Journal of Personalized Medicine

14 pages, 1283 KiB

Open AccessEditor’s ChoiceArticle

Sinonasal Biomarkers Defining Type 2-High and Type 2-Low Inflammation in Chronic Rhinosinusitis with Nasal Polyps

by Eugenio De Corso, Silvia Baroni, Stefano Settimi, Maria Elisabetta Onori, Rodolfo Francesco Mastrapasqua, Eliana Troiani, Giacomo Moretti, Donatella Lucchetti, Marco Corbò, Claudio Montuori, Alessandro Cantiani, Davide Paolo Porru, Simone Lo Verde, Giuseppe Alberto Di Bella, Cristiano Caruso and Jacopo Galli

J. Pers. Med. 2022, 12(8), 1251; https://doi.org/10.3390/jpm12081251 - 29 Jul 2022

Cited by 10 | Viewed by 2030

Abstract

The complex pathophysiology of chronic rhinosinusitis with nasal polyps (CRSwNP) generates a spectrum of phenotypes with a wide variety of inflammatory states. We enrolled 44 very-likely-to-be type 2 CRSwNP patients in order to evaluate the load of inflammation and to analyze human interleukins [...] Read more.

The complex pathophysiology of chronic rhinosinusitis with nasal polyps (CRSwNP) generates a spectrum of phenotypes with a wide variety of inflammatory states. We enrolled 44 very-likely-to-be type 2 CRSwNP patients in order to evaluate the load of inflammation and to analyze human interleukins in nasal secretion. Clinical data were collected to evaluate the severity of the disease. High levels of IL-5, IL-4, IL-6, and IL-33 were detected in all type 2 CRSwNP patients. By analyzing type 2 cytokine profiles and local eosinophil count, we identified two coherent clusters: the first was characterized by high levels of IL-4, IL-5, IL-6, and a high-grade eosinophil count (type 2-high); the second had lower levels of cytokines and poor or absent eosinophilic inflammation (type-2 low). IL-5 levels were significantly higher within the type 2 cytokine and it was the most reliable biomarker for differentiating the two clusters. In type 2-high inflammatory profile clinical scores, the mean number of previous surgeries and need for systemic corticosteroids were significantly higher compared to type 2-low. Our research demonstrated the potential role of type 2 biomarkers, and in particular, of IL-5 in identifying patients with a more severe phenotype based on a high inflammatory load. Full article

(This article belongs to the Section Clinical Medicine, Cell, and Organism Physiology)

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15 pages, 290 KiB

Open AccessEditor’s ChoiceArticle

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer

by Carla Pedrazzani, Monica Aceti, Reka Schweighoffer, Andrea Kaiser-Grolimund, Nicole Bürki, Pierre O. Chappuis, Rossella Graffeo, Christian Monnerat, Olivia Pagani, Manuela Rabaglio, Maria C. Katapodi and Maria Caiata-Zufferey

J. Pers. Med. 2022, 12(8), 1249; https://doi.org/10.3390/jpm12081249 - 29 Jul 2022

Cited by 10 | Viewed by 1915

Abstract

Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the [...] Read more.

Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands’ perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the “communication chain”, confirming the difficulties of proband-mediated communication. Provider–proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands’ decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands’ involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication. Full article

(This article belongs to the Special Issue Genetic Counseling and Genetic Testing in Precision Medicine)

15 pages, 345 KiB

Open AccessEditor’s ChoiceReview

CD24: A Novel Target for Cancer Immunotherapy

by Emmanouil Panagiotou, Nikolaos K. Syrigos, Andriani Charpidou, Elias Kotteas and Ioannis A. Vathiotis

J. Pers. Med. 2022, 12(8), 1235; https://doi.org/10.3390/jpm12081235 - 28 Jul 2022

Cited by 24 | Viewed by 5695

Abstract

Cluster of differentiation 24 (CD24) is a small, highly glycosylated cell adhesion protein that is normally expressed by immune as well as epithelial, neural, and muscle cells. Tumor CD24 expression has been linked with alterations in several oncogenic signaling pathways. In addition, the [...] Read more.

Cluster of differentiation 24 (CD24) is a small, highly glycosylated cell adhesion protein that is normally expressed by immune as well as epithelial, neural, and muscle cells. Tumor CD24 expression has been linked with alterations in several oncogenic signaling pathways. In addition, the CD24/Siglec-10 interaction has been implicated in tumor immune evasion, inhibiting macrophage-mediated phagocytosis as well as natural killer (NK) cell cytotoxicity. CD24 blockade has shown promising results in preclinical studies. Although there are limited data on efficacy, monoclonal antibodies against CD24 have demonstrated clinical safety and tolerability in two clinical trials. Other treatment modalities evaluated in the preclinical setting include antibody–drug conjugates and chimeric antigen receptor (CAR) T cell therapy. In this review, we summarize current evidence and future perspectives on CD24 as a potential target for cancer immunotherapy. Full article

(This article belongs to the Special Issue CD24 - a Novel Target for Cancer Therapy and a Biomarker for Cancer Prediction)

12 pages, 805 KiB

Open AccessEditor’s ChoiceArticle

High Neutrophil–Lymphocyte Ratio and Low Lymphocyte–Monocyte Ratio Combination after Thrombolysis Is a Potential Predictor of Poor Functional Outcome of Acute Ischemic Stroke

by Farzaneh Sadeghi, Ferenc Sarkady, Katalin S. Zsóri, István Szegedi, Rita Orbán-Kálmándi, Edina G. Székely, Nikolett Vasas, Ervin Berényi, László Csiba, Zsuzsa Bagoly and Amir H. Shemirani

J. Pers. Med. 2022, 12(8), 1221; https://doi.org/10.3390/jpm12081221 - 27 Jul 2022

Cited by 9 | Viewed by 1914

Abstract

(1) Background: Ischemic stroke is one of the leading causes of death and disability. An inflammatory response is observed in multiple stages of cerebral ischemia, particularly in the acute phase. Recent publications revealed that the neutrophil–lymphocyte ratio (NLR) and lymphocyte–monocyte ratio (LMR) may [...] Read more.

(1) Background: Ischemic stroke is one of the leading causes of death and disability. An inflammatory response is observed in multiple stages of cerebral ischemia, particularly in the acute phase. Recent publications revealed that the neutrophil–lymphocyte ratio (NLR) and lymphocyte–monocyte ratio (LMR) may be used to predict long-term prognosis in acute ischemic stroke (AIS) after thrombolysis. To test whether there is a relationship between the combination of these parameters and long-term prognosis, we analyzed the NLR–LMR combination in AIS patients treated with intravenous recombinant tissue plasminogen activator (rtPA); (2) Methods: The study included 285 adults with a diagnosis of AIS and rtPA treatment within a 4.5 h time window. Blood samples were obtained at admission and 24 h after thrombolysis to calculate pre- and post-thrombolysis NLR and LMR. Clinical data, including NIHSS was registered on admission and day 1. The long-term outcome was defined 90 days post-event by the modified Rankin Scale (mRS). Therapy-associated intracranial hemorrhage (ICH) was classified according to ECASS II. Receiver operating characteristic curve (ROC) analysis was performed to determine optimal cutoffs of NLR and LMR as predictors of therapy outcomes; (3) Results: Patients were stratified by cutoffs of 5.73 for NLR and 2.08 for LMR. The multivariate logistic regression model, including all possible confounders, displayed no significant association between NLR or LMR with 3-months functional prognosis. The combination of high NLR–low LMR vs. low NRL–high LMR as obtained 24 h after thrombolysis was found to be an independent predictor of poor 3-months functional outcome (mRS ≥ 2; OR 3.407, 95% CI 1.449 to 8.011, p = 0.005). The proportion of patients between low NLR–high LMR and high NLR–low LMR groups from admission to day 1 showed no significant change in the good outcome group. On the other hand, in the poor outcome group (mRS ≥ 2), low NLR–high LMR and high NLR–low LMR groups displayed a significant shift in patient proportions from 67% and 21% at admission (p = 0.001) to 36% and 49% at 24 h after thrombolysis (p < 0.001), respectively; (4) Conclusions: Our study demonstrated for the first time that a high NLR–low LMR combination as observed at 24 h after thrombolysis can serve as an independent predictor of 3-months poor outcome in AIS patients. This simple and readily available data may help clinicians to improve the prognostic estimation of patients and may provide guidance in selecting patients for personalized and intensified care post-thrombolysis. Full article

(This article belongs to the Special Issue Individualized Antithrombotic Risk Assessment & Therapy)

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20 pages, 1537 KiB

Open AccessEditor’s ChoiceReview

by Alessandro Trentini, Maria Cristina Manfrinato, Massimiliano Castellazzi and Tiziana Bellini

J. Pers. Med. 2022, 12(8), 1196; https://doi.org/10.3390/jpm12081196 - 22 Jul 2022

Cited by 12 | Viewed by 2377

Abstract

It is now established that sex differences occur in clinical manifestation, disease progression, and prognosis for both cardiovascular (CVDs) and central nervous system (CNS) disorders. As such, a great deal of effort is now being put into understanding these differences and turning them [...] Read more.

It is now established that sex differences occur in clinical manifestation, disease progression, and prognosis for both cardiovascular (CVDs) and central nervous system (CNS) disorders. As such, a great deal of effort is now being put into understanding these differences and turning them into “advantages”: (a) for the discovery of new sex-specific biomarkers and (b) through a review of old biomarkers from the perspective of the “newly” discovered sex/gender medicine. This is also true for matrix metalloproteinases (MMPs), enzymes involved in extracellular matrix (ECM) remodelling, which play a role in both CVDs and CNS disorders. However, most of the studies conducted up to now relegated sex to a mere confounding variable used for statistical model correction rather than a determining factor that can influence MMP levels and, in turn, disease prognosis. Consistently, this approach causes a loss of information that might help clinicians in identifying novel patterns and improve the applicability of MMPs in clinical practice by providing sex-specific threshold values. In this scenario, the current review aims to gather the available knowledge on sex-related differences in MMPs levels in CVDs and CNS conditions, hoping to shed light on their use as sex-specific biomarkers of disease prognosis or progression. Full article

(This article belongs to the Special Issue Personalized Medicine Interdisciplinary Aspects and Sex Gender-Specific Differences)

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26 pages, 555 KiB

Open AccessEditor’s ChoiceSystematic Review

Effect of Exercise on Inflammation in Hemodialysis Patients: A Systematic Review

by Erika Meléndez Oliva, Jorge H. Villafañe, Jose Luis Alonso Pérez, Alexandra Alonso Sal, Guillermo Molinero Carlier, Andrés Quevedo García, Silvia Turroni, Oliver Martínez-Pozas, Norberto Valcárcel Izquierdo and Eleuterio A. Sánchez Romero

J. Pers. Med. 2022, 12(7), 1188; https://doi.org/10.3390/jpm12071188 - 21 Jul 2022

Cited by 11 | Viewed by 2695

Abstract

Background: In recent years, physical exercise has been investigated for its potential as a therapeutic tool in patients with end-stage renal disease (ESRD) undergoing hemodialysis maintenance treatment (HD). It has been shown that regular practice of moderate-intensity exercise can improve certain aspects of [...] Read more.

Background: In recent years, physical exercise has been investigated for its potential as a therapeutic tool in patients with end-stage renal disease (ESRD) undergoing hemodialysis maintenance treatment (HD). It has been shown that regular practice of moderate-intensity exercise can improve certain aspects of immune function and exert anti-inflammatory effects, having been associated with low levels of pro-inflammatory cytokines and high levels of anti-inflammatory cytokines. Purpose: The aim of this review is to examine the studies carried out in this population that analyzed the effect of intradialytic exercise on the inflammatory state and evaluate which exercise modality is most effective. Methods: The search was carried out in the MEDLINE, CINAHL Web of Science and Cochrane Central Register of Controlled Trials databases from inception to June 2022. The PEDro scale was used to assess methodological quality, and the Cochrane Risk of Bias Tool and MINORS were used to evaluate the risk of bias. The quality of evidence was assessed with GRADE scale. The outcome measures were systemic inflammation biomarkers. Results: Mixed results were found in terms of improving inflammation biomarkers, such as CRP, IL-6 or TNFα, after exercise. Aerobic exercise seems to improve systemic inflammation when performed at medium intensity while resistance training produced better outcomes when performed at high intensity. However, some studies reported no differences after exercise and these results should be taken with caution. Conclusions: The low quality of the evidence suggests that aerobic and resistance exercise during HD treatment improves systemic inflammation biomarkers in patients with ESRD. In any case, interventions that increase physical activity in patients with ESRD are of vital importance as sedentary behaviors are associated with mortality. More studies are needed to affirm solid conclusions and to make intervention parameters, such as modality, dose, intensity or duration, sufficiently clear. Full article

(This article belongs to the Special Issue Frontiers in Chronic Kidney Disease)

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20 pages, 751 KiB

Open AccessFeature PaperEditor’s ChoiceReview

Combination Therapies for Nonalcoholic Fatty Liver Disease

by Evangelia S. Makri, Eleftheria Makri and Stergios A. Polyzos

J. Pers. Med. 2022, 12(7), 1166; https://doi.org/10.3390/jpm12071166 - 18 Jul 2022

Cited by 19 | Viewed by 2937

Abstract

Nonalcoholic fatty liver disease (NAFLD) is considered a highly prevalent disease associated with various co-morbidities that lead to socioeconomic burden. Despite large-scale investigation, no pharmacological treatment has been approved specifically for NAFLD to date. Lifestyle modifications and diet are regarded as highly beneficial [...] Read more.

Nonalcoholic fatty liver disease (NAFLD) is considered a highly prevalent disease associated with various co-morbidities that lead to socioeconomic burden. Despite large-scale investigation, no pharmacological treatment has been approved specifically for NAFLD to date. Lifestyle modifications and diet are regarded as highly beneficial for the management of NAFLD, albeit with poor compliance, thus rendering pharmacological treatment highly important. Based on the current failure to discover a “magic bullet” to treat all patients with NAFLD and considering the multifaceted pathophysiology of the disease, combination therapies may be considered to be a rational alternative approach. In this regard, several drug categories have been considered, including, but not limited to, lipid-lowering, anti-hypertensive, glucose-lowering, anti-obesity, anti-oxidant, anti-inflammatory and anti-fibrotic medications. The aim of this review is, in addition to summarizing some of the multiple factors contributing to the pathophysiology of NAFLD, to focus on the efficacy of pharmacological combinations on the management of NAFLD. This may provide evidence for a more personalized treatment of patients with NAFLD in the future. Full article

(This article belongs to the Special Issue From Basic to Clinical Research: Toward Precision Medicine for Metabolic Diseases)

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17 pages, 596 KiB

Open AccessEditor’s ChoiceReview

Allergic Asthma in the Era of Personalized Medicine

by Niki Papapostolou and Michael Makris

J. Pers. Med. 2022, 12(7), 1162; https://doi.org/10.3390/jpm12071162 - 18 Jul 2022

Cited by 14 | Viewed by 4198

Abstract

Allergic asthma is the most common asthma phenotype and is characterized by IgE sensitization to airborne allergens and subsequent typical asthmatic symptoms after exposure. A form of type 2 (T2) airway inflammation underlies allergic asthma. It usually arises in childhood and is accompanied [...] Read more.

Allergic asthma is the most common asthma phenotype and is characterized by IgE sensitization to airborne allergens and subsequent typical asthmatic symptoms after exposure. A form of type 2 (T2) airway inflammation underlies allergic asthma. It usually arises in childhood and is accompanied by multimorbidity presenting with the occurrence of other atopic diseases, such as atopic dermatitis and allergic rhinitis. Diagnosis of the allergic endotype is based on in vivo (skin prick tests) and/or in vitro (allergen-specific IgE levels, component-resolved diagnosis (CRD)) documentation of allergic sensitization. Biomarkers identifying patients with allergic asthma include total immunoglobulin E (IgE) levels, fractional exhaled nitric oxide (FeNO) and serum eosinophil counts. The treatment of allergic asthma is a complex procedure and requires a patient-tailored approach. Besides environmental control involving allergen avoidance measurements and cornerstone pharmacological interventions based on inhaled drugs, allergen-specific immunotherapy (AIT) and biologics are now at the forefront when it comes to personalized management of asthma. The current review aims to shed light on the distinct phenotype of allergic asthma, ranging over its current definition, clinical characteristics, pathophysiology and biomarkers, as well as its treatment options in the era of precision medicine. Full article

(This article belongs to the Special Issue Asthma: From Phenotypes to Personalized Medicine)

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18 pages, 988 KiB

Open AccessEditor’s ChoiceReview

Closed-Loop Controlled Fluid Administration Systems: A Comprehensive Scoping Review

by Guy Avital, Eric J. Snider, David Berard, Saul J. Vega, Sofia I. Hernandez Torres, Victor A. Convertino, Jose Salinas and Emily N. Boice

J. Pers. Med. 2022, 12(7), 1168; https://doi.org/10.3390/jpm12071168 - 18 Jul 2022

Cited by 8 | Viewed by 1899

Abstract

Physiological Closed-Loop Controlled systems continue to take a growing part in clinical practice, offering possibilities of providing more accurate, goal-directed care while reducing clinicians’ cognitive and task load. These systems also provide a standardized approach for the clinical management of the patient, leading [...] Read more.

Physiological Closed-Loop Controlled systems continue to take a growing part in clinical practice, offering possibilities of providing more accurate, goal-directed care while reducing clinicians’ cognitive and task load. These systems also provide a standardized approach for the clinical management of the patient, leading to a reduction in care variability across multiple dimensions. For fluid management and administration, the advantages of closed-loop technology are clear, especially in conditions that require precise care to improve outcomes, such as peri-operative care, trauma, and acute burn care. Controller design varies from simplistic to complex designs, based on detailed physiological models and adaptive properties that account for inter-patient and intra-patient variability; their maturity level ranges from theoretical models tested in silico to commercially available, FDA-approved products. This comprehensive scoping review was conducted in order to assess the current technological landscape of this field, describe the systems currently available or under development, and suggest further advancements that may unfold in the coming years. Ten distinct systems were identified and discussed. Full article

(This article belongs to the Special Issue Personalized Medicine in Trauma Resuscitation and Treatment)

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15 pages, 2401 KiB

Open AccessEditor’s ChoiceArticle

A Deep Learning Algorithm for Detecting Acute Pericarditis by Electrocardiogram

by Yu-Lan Liu, Chin-Sheng Lin, Cheng-Chung Cheng and Chin Lin

J. Pers. Med. 2022, 12(7), 1150; https://doi.org/10.3390/jpm12071150 - 15 Jul 2022

Cited by 9 | Viewed by 3113

Abstract

(1) Background: Acute pericarditis is often confused with ST-segment elevation myocardial infarction (STEMI) among patients presenting with acute chest pain in the emergency department (ED). Since a deep learning model (DLM) has been validated to accurately identify STEMI cases via 12-lead electrocardiogram (ECG), [...] Read more.

(1) Background: Acute pericarditis is often confused with ST-segment elevation myocardial infarction (STEMI) among patients presenting with acute chest pain in the emergency department (ED). Since a deep learning model (DLM) has been validated to accurately identify STEMI cases via 12-lead electrocardiogram (ECG), this study aimed to develop another DLM for the detection of acute pericarditis in the ED. (2) Methods: This study included 128 ECGs from patients with acute pericarditis and 66,633 ECGs from patients visiting the ED between 1 January 2010 and 31 December 2020. The ECGs were randomly allocated based on patients to the training, tuning, and validation sets, at a 3:1:1 ratio. We used raw ECG signals to train a pericarditis-DLM and used traditional ECG features to train a machine learning model. A human–machine competition was conducted using a subset of the validation set, and the performance of the Philips automatic algorithm was also compared. STEMI cases in the validation set were extracted to analyze the DLM ability of differential diagnosis between acute pericarditis and STEMI using ECG. We also followed the hospitalization events in non-pericarditis cases to explore the meaning of false-positive predictions. (3) Results: The pericarditis-DLM exceeded the performance of all participating human experts and algorithms based on traditional ECG features in the human–machine competition. In the validation set, the pericarditis-DLM could detect acute pericarditis with an area under the receiver operating characteristic curve (AUC) of 0.954, a sensitivity of 78.9%, and a specificity of 97.7%. However, our pericarditis-DLM also misinterpreted 10.2% of STEMI ECGs as pericarditis cases. Therefore, we generated an integrating strategy combining pericarditis-DLM and a previously developed STEMI-DLM, which provided a sensitivity of 73.7% and specificity of 99.4%, to identify acute pericarditis in patients with chest pains. Compared to the true-negative cases, patients with false-positive results using this strategy were associated with higher risk of hospitalization within 3 days due to cardiac disorders (hazard ratio (HR): 8.09; 95% confidence interval (CI): 3.99 to 16.39). (4) Conclusions: The AI-enhanced algorithm may be a powerful tool to assist clinicians in the early detection of acute pericarditis and differentiate it from STEMI using 12-lead ECGs. Full article

(This article belongs to the Special Issue The Challenges and Prospects in Cardiology)

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27 pages, 1888 KiB

Open AccessEditor’s ChoiceArticle

Pressure Injuries and Management after Spinal Cord Injury

by Nicole M. Vecin and David R. Gater

J. Pers. Med. 2022, 12(7), 1130; https://doi.org/10.3390/jpm12071130 - 12 Jul 2022

Cited by 11 | Viewed by 12838

Abstract

Spinal cord injury (SCI) results in motor paralysis and sensory loss that places individuals at particularly high risk of pressure injuries. Multiple comorbidities associated with autonomic, cardiovascular, pulmonary, endocrine, gastrointestinal, genitourinary, neurological, and musculoskeletal dysfunction makes it even more likely that pressure injuries [...] Read more.

Spinal cord injury (SCI) results in motor paralysis and sensory loss that places individuals at particularly high risk of pressure injuries. Multiple comorbidities associated with autonomic, cardiovascular, pulmonary, endocrine, gastrointestinal, genitourinary, neurological, and musculoskeletal dysfunction makes it even more likely that pressure injuries will occur. This manuscript will review the structure and function of the integumentary system, and address the multidisciplinary approach required to prevent and manage pressure injuries in this vulnerable population. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

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20 pages, 935 KiB

Open AccessEditor’s ChoiceArticle

Pathophysiology, Classification and Comorbidities after Traumatic Spinal Cord Injury

by James Guest, Nilanjana Datta, George Jimsheleishvili and David R. Gater, Jr.

J. Pers. Med. 2022, 12(7), 1126; https://doi.org/10.3390/jpm12071126 - 11 Jul 2022

Cited by 22 | Viewed by 5886

Abstract

The spinal cord is a conduit within the central nervous system (CNS) that provides ongoing communication between the brain and the rest of the body, conveying complex sensory and motor information necessary for safety, movement, reflexes, and optimization of autonomic function. After a [...] Read more.

The spinal cord is a conduit within the central nervous system (CNS) that provides ongoing communication between the brain and the rest of the body, conveying complex sensory and motor information necessary for safety, movement, reflexes, and optimization of autonomic function. After a spinal cord injury (SCI), supraspinal influences on the spinal segmental control system and autonomic nervous system (ANS) are disrupted, leading to spastic paralysis, pain and dysesthesia, sympathetic blunting and parasympathetic dominance resulting in cardiac dysrhythmias, systemic hypotension, bronchoconstriction, copious respiratory secretions and uncontrolled bowel, bladder, and sexual dysfunction. This article outlines the pathophysiology of traumatic SCI, current and emerging methods of classification, and its influence on sensory/motor function, and introduces the probable comorbidities associated with SCI that will be discussed in more detail in the accompanying manuscripts of this special issue. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

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15 pages, 2787 KiB

Open AccessEditor’s ChoiceArticle

Autonomic Dysfunction and Management after Spinal Cord Injury: A Narrative Review

by Austin M. Henke, Zackery J. Billington and David R. Gater, Jr.

J. Pers. Med. 2022, 12(7), 1110; https://doi.org/10.3390/jpm12071110 - 07 Jul 2022

Cited by 16 | Viewed by 5654

Abstract

The autonomic nervous system (ANS), composed of the sympathetic and parasympathetic nervous systems, acts to maintain homeostasis in the body through autonomic influences on the smooth muscle, cardiac muscles, blood vessels, glands and organs of the body. The parasympathetic nervous system interacts via [...] Read more.

The autonomic nervous system (ANS), composed of the sympathetic and parasympathetic nervous systems, acts to maintain homeostasis in the body through autonomic influences on the smooth muscle, cardiac muscles, blood vessels, glands and organs of the body. The parasympathetic nervous system interacts via the cranial and sacral segments of the central nervous system, and the sympathetic nervous system arises from the T1–L2 spinal cord segments. After a spinal cord injury (SCI), supraspinal influence on the ANS is disrupted, leading to sympathetic blunting and parasympathetic dominance resulting in cardiac dysrhythmias, systemic hypotension, bronchoconstriction, copious respiratory secretions and uncontrolled bowel, bladder, and sexual dysfunction. Further, afferent signals to the sympathetic cord elicit unabated reflex sympathetic outflow in response to noxious stimuli below the level of SCI. This article outlines the pathophysiology of SCI on the ANS, clinical ramifications of autonomic dysfunction, and the potential long-term sequelae of these influences following SCI. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

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17 pages, 2350 KiB

Open AccessEditor’s ChoiceReview

Management of Patients with Severe Asthma and Chronic Rhinosinusitis with Nasal Polyps: A Multidisciplinary Shared Approach

by Veronica Seccia, Maria D’Amato, Giulia Scioscia, Diego Bagnasco, Fabiano Di Marco, Gianluca Fadda, Francesco Menzella, Ernesto Pasquini, Girolamo Pelaia, Eugenio Tremante, Eugenio De Corso and Matteo Bonini

J. Pers. Med. 2022, 12(7), 1096; https://doi.org/10.3390/jpm12071096 - 01 Jul 2022

Cited by 12 | Viewed by 3305

Abstract

Chronic rhinosinusitis (CRS) is one of the most frequent comorbidities associated with asthma and it contributes to an amplified global disease burden in asthmatics. CRS prevalence is much higher in asthmatic patients compared to the general population and it is more frequently related [...] Read more.

Chronic rhinosinusitis (CRS) is one of the most frequent comorbidities associated with asthma and it contributes to an amplified global disease burden in asthmatics. CRS prevalence is much higher in asthmatic patients compared to the general population and it is more frequently related to severe asthma, especially in presence of nasal polyps (chronic rhinosinusitis with nasal polyps, CRSwNP). Moreover, asthma exacerbation has a higher occurrence in CRSwNP. From a pathologic point of view, CRS and asthma share similar and connected mechanisms (e.g., type-2 inflammation). A multidisciplinary approach represents a crucial aspect for the optimal management of patients with concomitant asthma and CRSwNP and improvement of patient quality of life. An Italian panel of clinicians with different clinical expertise (pulmonologists, ear, nose and throat specialists, immunologists and allergy physicians) identified three different profiles of patients with coexisting asthma and nasal symptoms and discussed the specific tracks to guide a comprehensive approach to their diagnostic and therapeutic management. Currently available biological agents for the treatment of severe asthma act either on eosinophil-centered signaling network or type-2 inflammation, resulting to be effective also in CRSwNP and representing a valid option for patients with concomitant conditions. Full article

(This article belongs to the Special Issue Personalized Medicine in Otorhinolaryngology)

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17 pages, 30587 KiB

Open AccessEditor’s ChoiceArticle

Hemostasis and Anti-Inflammatory Abilities of AuNPs-Coated Chitosan Dressing for Burn Wounds

by Juin-Hong Cherng, Cheng-An J. Lin, Cheng-Che Liu, Jue-Zong Yeh, Gang-Yi Fan, Hsin-Da Tsai, Chun-Fang Chung and Sheng-Der Hsu

J. Pers. Med. 2022, 12(7), 1089; https://doi.org/10.3390/jpm12071089 - 30 Jun 2022

Cited by 8 | Viewed by 2019

Abstract

Burn injuries are a common hazard in the military, as fire is likely to be weaponized. Thus, it is important to find an effective substance to accelerate burn wound healing. This study used chitosan and gold nanoparticles (AuNPs) as wound dressings and investigated [...] Read more.

Burn injuries are a common hazard in the military, as fire is likely to be weaponized. Thus, it is important to find an effective substance to accelerate burn wound healing. This study used chitosan and gold nanoparticles (AuNPs) as wound dressings and investigated their effectiveness in femoral artery hemorrhage swine and rat burn models. Chitosan dressing has significant hemostatic properties compared with gauze. Histological results showed that burn wounds treated with chitosan or AuNP-coated chitosan dressings exhibited more cells and a continuous structure of the epidermis and dermis than those of the control and untreated lesion groups. Furthermore, both chitosan dressings have been shown to positively regulate the expression of genes- and cytokines/chemokines-related to the wound healing process; AuNP-coated chitosan significantly lessened severe sepsis and inflammation, balanced the activities of pro-fibrotic and anti-fibrotic ligands for tissue homeostasis, regulated angiogenesis, and inhibited apoptosis activity, thereby being beneficial for the burn microenvironment. Hence, chitosan alone or in combination with AuNPs represents a prospective therapeutic substance as a burn dressing which might be helpful for burn wound care. This study provides a novel hemostasis dressing for modern warfare that is simple to use by most medical and paramedical personnel handling for burn treatment. Full article

(This article belongs to the Special Issue Personalized Medicine in Trauma Resuscitation and Treatment)

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18 pages, 1067 KiB

Open AccessEditor’s ChoiceReview

Eosinophilic Asthma, Phenotypes-Endotypes and Current Biomarkers of Choice

by Konstantinos Porpodis, Ioanna Tsiouprou, Apostolos Apostolopoulos, Polyxeni Ntontsi, Evangelia Fouka, Despoina Papakosta, Harissios Vliagoftis and Kalliopi Domvri

J. Pers. Med. 2022, 12(7), 1093; https://doi.org/10.3390/jpm12071093 - 30 Jun 2022

Cited by 14 | Viewed by 6190

Abstract

Asthma phenotyping and endotyping are constantly evolving. Currently, several biologic agents have been developed towards a personalized approach to asthma management. This review will focus on different eosinophilic phenotypes and Th2-associated endotypes with eosinophilic inflammation. Additionally, airway remodeling is analyzed as a key [...] Read more.

Asthma phenotyping and endotyping are constantly evolving. Currently, several biologic agents have been developed towards a personalized approach to asthma management. This review will focus on different eosinophilic phenotypes and Th2-associated endotypes with eosinophilic inflammation. Additionally, airway remodeling is analyzed as a key feature of asthmatic eosinophilic endotypes. In addition, evidence of biomarkers is examined with a predictive value to identify patients with severe, uncontrolled asthma who may benefit from new treatment options. Finally, there will be a discussion on the results from clinical trials regarding severe eosinophilic asthma and how the inhibition of the eosinophilic pathway by targeted treatments has led to the reduction of recurrent exacerbations. Full article

(This article belongs to the Special Issue Asthma: From Phenotypes to Personalized Medicine)

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32 pages, 2960 KiB

Open AccessEditor’s ChoiceReview

The Diagnosis and Management of Cardiometabolic Risk and Cardiometabolic Syndrome after Spinal Cord Injury

by Gary J. Farkas, Adam M. Burton, David W. McMillan, Alicia Sneij and David R. Gater, Jr.

J. Pers. Med. 2022, 12(7), 1088; https://doi.org/10.3390/jpm12071088 - 30 Jun 2022

Cited by 10 | Viewed by 3500

Abstract

Individuals with spinal cord injuries (SCI) commonly present with component risk factors for cardiometabolic risk and combined risk factors for cardiometabolic syndrome (CMS). These primary risk factors include obesity, dyslipidemia, dysglycemia/insulin resistance, and hypertension. Commonly referred to as “silent killers”, cardiometabolic risk and [...] Read more.

Individuals with spinal cord injuries (SCI) commonly present with component risk factors for cardiometabolic risk and combined risk factors for cardiometabolic syndrome (CMS). These primary risk factors include obesity, dyslipidemia, dysglycemia/insulin resistance, and hypertension. Commonly referred to as “silent killers”, cardiometabolic risk and CMS increase the threat of cardiovascular disease, a leading cause of death after SCI. This narrative review will examine current data and the etiopathogenesis of cardiometabolic risk, CMS, and cardiovascular disease associated with SCI, focusing on pivotal research on cardiometabolic sequelae from the last five years. The review will also provide current diagnosis and surveillance criteria for cardiometabolic disorders after SCI, a novel obesity classification system based on percent total body fat, and lifestyle management strategies to improve cardiometabolic health. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

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16 pages, 5564 KiB

Open AccessEditor’s ChoiceReview

Atlas of PD-L1 for Pathologists: Indications, Scores, Diagnostic Platforms and Reporting Systems

by Stefano Marletta, Nicola Fusco, Enrico Munari, Claudio Luchini, Alessia Cimadamore, Matteo Brunelli, Giulia Querzoli, Maurizio Martini, Elena Vigliar, Romano Colombari, Ilaria Girolami, Fabio Pagni and Albino Eccher

J. Pers. Med. 2022, 12(7), 1073; https://doi.org/10.3390/jpm12071073 - 29 Jun 2022

Cited by 37 | Viewed by 5347

Abstract

Background. Innovative drugs targeting the PD1/PD-L1 axis have opened promising scenarios in modern cancer therapy. Plenty of assays and scoring systems have been developed for the evaluation of PD-L1 immunohistochemical expression, so far considered the most reliable therapeutic predictive marker. Methods. By gathering [...] Read more.

Background. Innovative drugs targeting the PD1/PD-L1 axis have opened promising scenarios in modern cancer therapy. Plenty of assays and scoring systems have been developed for the evaluation of PD-L1 immunohistochemical expression, so far considered the most reliable therapeutic predictive marker. Methods. By gathering the opinion of acknowledged experts in dedicated fields of pathology, we sought to update the currently available evidence on PD-L1 assessment in various types of tumors. Results. Robust data were progressively collected for several anatomic districts and leading international agencies to approve specific protocols: among these, TPS with 22C3, SP142 and SP263 clones in lung cancer; IC with SP142 antibody in breast, lung and urothelial tumors; and CPS with 22C3/SP263 assays in head and neck and urothelial carcinomas. On the other hand, for other malignancies, such as gastroenteric neoplasms, immunotherapy has been only recently introduced, often for particular histotypes, so specific guidelines are still lacking. Conclusions. PD-L1 immunohistochemical scoring is currently the basis for allowing many cancer patients to receive properly targeted therapies. While protocols supported by proven data are already available for many tumors, dedicated studies and clinical trials focusing on harmonization of the topic in other still only partially explored fields are surely yet advisable. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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19 pages, 1715 KiB

Open AccessEditor’s ChoiceReview

Taking Advantages of Blood–Brain or Spinal Cord Barrier Alterations or Restoring Them to Optimize Therapy in ALS?

by Hugo Alarcan, Yara Al Ojaimi, Debora Lanznaster, Jean-Michel Escoffre, Philippe Corcia, Patrick Vourc’h, Christian R. Andres, Charlotte Veyrat-Durebex and Hélène Blasco

J. Pers. Med. 2022, 12(7), 1071; https://doi.org/10.3390/jpm12071071 - 29 Jun 2022

Cited by 9 | Viewed by 2004

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder that still lacks an efficient therapy. The barriers between the central nervous system (CNS) and the blood represent a major limiting factor to the development of drugs for CNS diseases, including ALS. Alterations of [...] Read more.

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder that still lacks an efficient therapy. The barriers between the central nervous system (CNS) and the blood represent a major limiting factor to the development of drugs for CNS diseases, including ALS. Alterations of the blood–brain barrier (BBB) or blood–spinal cord barrier (BSCB) have been reported in this disease but still require further investigations. Interestingly, these alterations might be involved in the complex etiology and pathogenesis of ALS. Moreover, they can have potential consequences on the diffusion of candidate drugs across the brain. The development of techniques to bypass these barriers is continuously evolving and might open the door for personalized medical approaches. Therefore, identifying robust and non-invasive markers of BBB and BSCB alterations can help distinguish different subgroups of patients, such as those in whom barrier disruption can negatively affect the delivery of drugs to their CNS targets. The restoration of CNS barriers using innovative therapies could consequently present the advantage of both alleviating the disease progression and optimizing the safety and efficiency of ALS-specific therapies. Full article

(This article belongs to the Special Issue Neuromuscular and Neurodegenerative Diseases: Towards Personalized Medicine, Therapeutics and Improved Mechanistic Understanding)

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28 pages, 3907 KiB

Open AccessEditor’s ChoiceReview

Modeling Endometrium Biology and Disease

by Nina Maenhoudt, Amber De Moor and Hugo Vankelecom

J. Pers. Med. 2022, 12(7), 1048; https://doi.org/10.3390/jpm12071048 - 27 Jun 2022

Cited by 10 | Viewed by 4233

Abstract

The endometrium, lining the uterine lumen, is highly essential for human reproduction. Its exceptional remodeling plasticity, including the transformation process to welcome and nest the embryo, is not well understood. Lack of representative and reliable study models allowing the molecular and cellular mechanisms [...] Read more.

The endometrium, lining the uterine lumen, is highly essential for human reproduction. Its exceptional remodeling plasticity, including the transformation process to welcome and nest the embryo, is not well understood. Lack of representative and reliable study models allowing the molecular and cellular mechanisms underlying endometrium development and biology to be deciphered is an important hurdle to progress in the field. Recently, powerful organoid models have been developed that not only recapitulate endometrial biology such as the menstrual cycle, but also faithfully reproduce diseases of the endometrium such as endometriosis. Moreover, single-cell profiling endeavors of the endometrium in health and disease, and of derived organoids, start to provide deeper insight into cellular complexity and expression specificities, and in resulting tissue processes. This granular portrayal will not only help in understanding endometrium biology and disease, but also in pinning down the tissue’s stem cells, at present not yet conclusively defined. Here, we provide a general overview of endometrium development and biology, and the efforts of modeling both the healthy tissue, as well as its key diseased form of endometriosis. The future of modeling and deciphering this key tissue, hidden inside the womb, looks bright. Full article

(This article belongs to the Special Issue Endometrial Stem/Progenitor Cell Biology: Prospects and Challenges)

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12 pages, 284 KiB

Open AccessEditor’s ChoiceReview

Biologic Therapies in Pediatric Asthma

by Evanthia P. Perikleous, Paschalis Steiropoulos, Evangelia Nena and Emmanouil Paraskakis

J. Pers. Med. 2022, 12(6), 999; https://doi.org/10.3390/jpm12060999 - 18 Jun 2022

Cited by 13 | Viewed by 2676

Abstract

Undeniably, childhood asthma is a multifactorial and heterogeneous chronic condition widespread in children. Its management, especially of the severe form refractory to standard therapy remains challenging. Over the past decades, the development of biologic agents and their subsequent approval has provided an advanced [...] Read more.

Undeniably, childhood asthma is a multifactorial and heterogeneous chronic condition widespread in children. Its management, especially of the severe form refractory to standard therapy remains challenging. Over the past decades, the development of biologic agents and their subsequent approval has provided an advanced and very promising treatment alternative, eventually directing toward a successful precision medicine approach. The application of currently approved add-on treatments for severe asthma in children, namely omalizumab, mepolizumab, benralizumab, dupilumab, and tezepelumab have been shown to be effective in terms of asthma control and exacerbation rate. However, to date, information is still lacking regarding its long-term use. As a result, data are frequently extrapolated from adult studies. Thus, the selection of the appropriate biologic agent, the potential predictors of good asthma response, and the long-term outcome in the pediatric population are still to be further investigated. The aim of the present study was to provide an overview of the current status of the latest evidence about all licensed monoclonal antibodies (mAbs) that have emerged and been applied to the field of asthma management. The innovative future targets are also briefly discussed. Full article

(This article belongs to the Special Issue Asthma: From Phenotypes to Personalized Medicine)

12 pages, 285 KiB

Open AccessEditor’s ChoiceArticle

Pediatric Spina Bifida and Spinal Cord Injury

by Joslyn Gober, Sruthi P. Thomas and David R. Gater

J. Pers. Med. 2022, 12(6), 985; https://doi.org/10.3390/jpm12060985 - 17 Jun 2022

Cited by 9 | Viewed by 3733

Abstract

Pediatric spina bifida (SB) and spinal cord injury (SCI) are unfortunately common in our society, and their unique findings and comorbidities warrant special consideration. This manuscript will discuss the epidemiology, pathophysiology, prevention, and management strategies for children growing and developing with these unique [...] Read more.

Pediatric spina bifida (SB) and spinal cord injury (SCI) are unfortunately common in our society, and their unique findings and comorbidities warrant special consideration. This manuscript will discuss the epidemiology, pathophysiology, prevention, and management strategies for children growing and developing with these unique neuromuscular disorders. Growth and development of the maturing child places them at high risk of spinal cord tethering, syringomyelia, ascending paralysis, pressure injuries, and orthopedic abnormalities that must be addressed frequently and judiciously. Similarly, proper neurogenic bladder and neurogenic bowel management is essential not just for medical safety, but also for optimal psychosocial integration into the child’s expanding social circle. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

17 pages, 931 KiB

Open AccessEditor’s ChoiceReview

More than Meets the Eye: Using Textural Analysis and Artificial Intelligence as Decision Support Tools in Prostate Cancer Diagnosis—A Systematic Review

by Teodora Telecan, Iulia Andras, Nicolae Crisan, Lorin Giurgiu, Emanuel Darius Căta, Cosmin Caraiani, Andrei Lebovici, Bianca Boca, Zoltan Balint, Laura Diosan and Monica Lupsor-Platon

J. Pers. Med. 2022, 12(6), 983; https://doi.org/10.3390/jpm12060983 - 16 Jun 2022

Cited by 9 | Viewed by 1924

Abstract

(1) Introduction: Multiparametric magnetic resonance imaging (mpMRI) is the main imagistic tool employed to assess patients suspected of harboring prostate cancer (PCa), setting the indication for targeted prostate biopsy. However, both mpMRI and targeted prostate biopsy are operator dependent. The past decade has [...] Read more.

(1) Introduction: Multiparametric magnetic resonance imaging (mpMRI) is the main imagistic tool employed to assess patients suspected of harboring prostate cancer (PCa), setting the indication for targeted prostate biopsy. However, both mpMRI and targeted prostate biopsy are operator dependent. The past decade has been marked by the emerging domain of radiomics and artificial intelligence (AI), with extended application in medical diagnosis and treatment processes. (2) Aim: To present the current state of the art regarding decision support tools based on texture analysis and AI for the prediction of aggressiveness and biopsy assistance. (3) Materials and Methods: We performed literature research using PubMed MeSH, Scopus and WoS (Web of Science) databases and screened the retrieved papers using PRISMA principles. Articles that addressed PCa diagnosis and staging assisted by texture analysis and AI algorithms were included. (4) Results: 359 papers were retrieved using the keywords “prostate cancer”, “MRI”, “radiomics”, “textural analysis”, “artificial intelligence”, “computer assisted diagnosis”, out of which 35 were included in the final review. In total, 24 articles were presenting PCa diagnosis and prediction of aggressiveness, 7 addressed extracapsular extension assessment and 4 tackled computer-assisted targeted prostate biopsies. (5) Conclusions: The fusion of radiomics and AI has the potential of becoming an everyday tool in the process of diagnosis and staging of the prostate malignancies. Full article

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14 pages, 292 KiB

Open AccessEditor’s ChoiceReview

Biological Therapy of Severe Asthma and Nasal Polyps

by Agamemnon Bakakos, Florence Schleich and Petros Bakakos

J. Pers. Med. 2022, 12(6), 976; https://doi.org/10.3390/jpm12060976 - 16 Jun 2022

Cited by 14 | Viewed by 4163

Abstract

Chronic rhinosinusitis is a common disease worldwide and can be categorized into chronic rhinosinusitis with nasal polyps and chronic rhinosinusitis without nasal polyps. Chronic rhinosinusitis with nasal polyps is common in patients with asthma and, particularly, severe asthma. Severe asthma is effectively treated [...] Read more.

Chronic rhinosinusitis is a common disease worldwide and can be categorized into chronic rhinosinusitis with nasal polyps and chronic rhinosinusitis without nasal polyps. Chronic rhinosinusitis with nasal polyps is common in patients with asthma and, particularly, severe asthma. Severe asthma is effectively treated with biologics and the coexistence of severe asthma with chronic rhinosinusitis with nasal polyps presents a phenotype that is more likely to respond to such treatment. In this review, we focus on the link between asthma and nasal polyps, and we review the treatment effect of various monoclonal antibodies in patients with severe asthma and nasal polyps as well as in patients with nasal polyps without asthma or with mild-to-moderate asthma. With the enhancement of our armamentarium with new monoclonal antibodies the right choice of biologic becomes an important target and one that is difficult to achieve due to the lack of comparative head-to-head studies. Full article

(This article belongs to the Special Issue Asthma: From Phenotypes to Personalized Medicine)

14 pages, 935 KiB

Open AccessEditor’s ChoiceArticle

Sex Difference in the Associations among Obesity-Related Indices with Incident Hypertension in a Large Taiwanese Population Follow-Up Study

by Wen-Chi Lee, Pei-Yu Wu, Jiun-Chi Huang, Yi-Chun Tsai, Yi-Wen Chiu, Szu-Chia Chen, Jer-Ming Chang and Hung-Chun Chen

J. Pers. Med. 2022, 12(6), 972; https://doi.org/10.3390/jpm12060972 - 15 Jun 2022

Cited by 11 | Viewed by 1875

Abstract

Hypertension is a major risk factor for stroke, atherosclerosis, and other cardiovascular diseases, and obesity is a major risk factor for hypertension. The aim of this longitudinal study was to investigate sex differences in the correlations among obesity-related indices and incident hypertension in [...] Read more.

Hypertension is a major risk factor for stroke, atherosclerosis, and other cardiovascular diseases, and obesity is a major risk factor for hypertension. The aim of this longitudinal study was to investigate sex differences in the correlations among obesity-related indices and incident hypertension in a large Taiwanese cohort. We included 21,466 enrollees in the Taiwan Biobank and followed them for 4 years. Of the 21,466 patients enrolled in this study, 6899 (mean age, 49.6 ± 10.9 years) were male and 14,567 (mean age, 49.7 ± 10.0 years) were female. Data on visceral adiposity index (VAI), waist-to-height ratio (WHtR), waist-to-hip ratio (WHR), lipid accumulation product (LAP), conicity index (CI), body roundness index (BRI), body mass index (BMI), body adiposity index (BAI), and abdominal volume index (AVI) were collected and analyzed. The results showed that all of the studied obesity-related indices were significantly associated with incident hypertension. Among them, WHtR was the strongest predictor of hypertension in both sexes. In addition, interactions between VAI, LAP, CI, BMI, and AVI with sex on incident hypertension were also statistically significant. CI and AVI were more strongly associated with hypertension in the men than in the women, while VAI, LAP, and BMI were more strongly associated with hypertension in the women. In conclusion, the studied obesity-related indices were found to be predictors of incident hypertension, and there were differences in the associations between the male and female participants. Our findings may imply that reducing body weight may be associated with a lower risk of developing hypertension. Full article

(This article belongs to the Section Mechanisms of Diseases)

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15 pages, 1014 KiB

Open AccessEditor’s ChoiceArticle

Neurogenic Bladder Physiology, Pathogenesis, and Management after Spinal Cord Injury

by Nathalie Elisabeth Perez, Neha Pradyumna Godbole, Katherine Amin, Raveen Syan and David R. Gater, Jr.

J. Pers. Med. 2022, 12(6), 968; https://doi.org/10.3390/jpm12060968 - 14 Jun 2022

Cited by 11 | Viewed by 7567

Abstract

Urinary incontinence is common after spinal cord injury (SCI) due to loss of supraspinal coordination and unabated reflexes in both autonomic and somatic nervous systems; if unchecked, these disturbances can become life-threatening. This manuscript will review normal anatomy and physiology of the urinary [...] Read more.

Urinary incontinence is common after spinal cord injury (SCI) due to loss of supraspinal coordination and unabated reflexes in both autonomic and somatic nervous systems; if unchecked, these disturbances can become life-threatening. This manuscript will review normal anatomy and physiology of the urinary system and discuss pathophysiology secondary to SCI. This includes a discussion of autonomic dysreflexia, as well as its diagnosis and management. The kidneys and the ureters, representing the upper urinary tract system, can be at risk related to dyssynergy between the urethral sphincters and high pressures that lead to potential vesicoureteral reflux, urinary tract infections, and calculi associated with neurogenic lower urinary tract dysfunction (NLUTD). Recent guidelines for diagnosis, evaluation, treatment and follow up of the neurogenic bladder will be reviewed and options provided for risk stratification and management. Mechanical, pharmacological, neurolysis and surgical management will be discussed. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

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12 pages, 1731 KiB

Open AccessEditor’s ChoiceArticle

Prognostic Significance of Perineural Invasion in Patients with Stage II/III Gastric Cancer Undergoing Radical Surgery

by Yi-Fu Chen, Shan-Yu Wang, Puo-Hsien Le, Tsung-Hsing Chen, Chia-Jung Kuo, Chun-Jung Lin, Wen-Chi Chou, Ta-Sen Yeh and Jun-Te Hsu

J. Pers. Med. 2022, 12(6), 962; https://doi.org/10.3390/jpm12060962 - 12 Jun 2022

Cited by 11 | Viewed by 1754

Abstract

The prognostic significance of perineural invasion in patients with gastric cancer (GC) is controversial. This study aimed to determine the prognostic value of perineural invasion in patients with stage II/III GC undergoing radical surgery. A total of 1913 patients with stage II/III GC [...] Read more.

The prognostic significance of perineural invasion in patients with gastric cancer (GC) is controversial. This study aimed to determine the prognostic value of perineural invasion in patients with stage II/III GC undergoing radical surgery. A total of 1913 patients with stage II/III GC who underwent curative resection between 1994 and 2015 were recruited. Clinicopathological factors, tumor recurrence patterns, disease-free survival, and cancer-specific survival were compared in terms of perineural invasion. The prognostic factors of disease-free survival and cancer-specific survival were determined using univariate and multivariate analyses. Perineural invasion was found in 57.1% of the patients. Age of <65 years, female sex, large tumor size, upper tumor location, total gastrectomy, advanced tumor invasion depth and nodal involvement, greater metastatic to examined lymph node ratio, undifferentiated tumor, and presence of lymphatic or vascular invasion were significantly associated with perineural invasion. The patients with perineural invasion had higher locoregional/peritoneal recurrence rates than those without. Perineural invasion was independently associated with disease-free survival and cancer-specific survival. In conclusion, perineural invasion positivity is associated with aggressive tumor behaviors and higher locoregional/peritoneal recurrence rates in patients with stage II/III GC undergoing curative surgery. It is an independent unfavorable prognostic factor of disease recurrence and cancer-specific survival. Full article

(This article belongs to the Special Issue Upper Digestive Surgical Oncology)

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15 pages, 750 KiB

Open AccessEditor’s ChoiceArticle

Robustness Evaluation of a Deep Learning Model on Sagittal and Axial Breast DCE-MRIs to Predict Pathological Complete Response to Neoadjuvant Chemotherapy

by Raffaella Massafra, Maria Colomba Comes, Samantha Bove, Vittorio Didonna, Gianluca Gatta, Francesco Giotta, Annarita Fanizzi, Daniele La Forgia, Agnese Latorre, Maria Irene Pastena, Domenico Pomarico, Lucia Rinaldi, Pasquale Tamborra, Alfredo Zito, Vito Lorusso and Angelo Virgilio Paradiso

J. Pers. Med. 2022, 12(6), 953; https://doi.org/10.3390/jpm12060953 - 10 Jun 2022

Cited by 16 | Viewed by 1970

Abstract

To date, some artificial intelligence (AI) methods have exploited Dynamic Contrast-Enhanced Magnetic Resonance Imaging (DCE-MRI) to identify finer tumor properties as potential earlier indicators of pathological Complete Response (pCR) in breast cancer patients undergoing neoadjuvant chemotherapy (NAC). However, they work either for sagittal [...] Read more.

To date, some artificial intelligence (AI) methods have exploited Dynamic Contrast-Enhanced Magnetic Resonance Imaging (DCE-MRI) to identify finer tumor properties as potential earlier indicators of pathological Complete Response (pCR) in breast cancer patients undergoing neoadjuvant chemotherapy (NAC). However, they work either for sagittal or axial MRI protocols. More flexible AI tools, to be used easily in clinical practice across various institutions in accordance with its own imaging acquisition protocol, are required. Here, we addressed this topic by developing an AI method based on deep learning in giving an early prediction of pCR at various DCE-MRI protocols (axial and sagittal). Sagittal DCE-MRIs refer to 151 patients (42 pCR; 109 non-pCR) from the public I-SPY1 TRIAL database (DB); axial DCE-MRIs are related to 74 patients (22 pCR; 52 non-pCR) from a private DB provided by Istituto Tumori “Giovanni Paolo II” in Bari (Italy). By merging the features extracted from baseline MRIs with some pre-treatment clinical variables, accuracies of 84.4% and 77.3% and AUC values of 80.3% and 78.0% were achieved on the independent tests related to the public DB and the private DB, respectively. Overall, the presented method has shown to be robust regardless of the specific MRI protocol. Full article

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18 pages, 2347 KiB

Open AccessEditor’s ChoiceArticle

Machine Learning-Assisted FTIR Analysis of Circulating Extracellular Vesicles for Cancer Liquid Biopsy

by Riccardo Di Santo, Maria Vaccaro, Sabrina Romanò, Flavio Di Giacinto, Massimiliano Papi, Gian Ludovico Rapaccini, Marco De Spirito, Luca Miele, Umberto Basile and Gabriele Ciasca

J. Pers. Med. 2022, 12(6), 949; https://doi.org/10.3390/jpm12060949 - 10 Jun 2022

Cited by 17 | Viewed by 2981

Abstract

Extracellular vesicles (EVs) are abundantly released into the systemic circulation, where they show remarkable stability and harbor molecular constituents that provide biochemical information about their cells of origin. Due to this characteristic, EVs are attracting increasing attention as a source of circulating biomarkers [...] Read more.

Extracellular vesicles (EVs) are abundantly released into the systemic circulation, where they show remarkable stability and harbor molecular constituents that provide biochemical information about their cells of origin. Due to this characteristic, EVs are attracting increasing attention as a source of circulating biomarkers for cancer liquid biopsy and personalized medicine. Despite this potential, none of the discovered biomarkers has entered the clinical practice so far, and novel approaches for the label-free characterization of EVs are highly demanded. In this regard, Fourier Transform Infrared Spectroscopy (FTIR) has great potential as it provides a quick, reproducible, and informative biomolecular fingerprint of EVs. In this pilot study, we investigated, for the first time in the literature, the capability of FTIR spectroscopy to distinguish between EVs extracted from sera of cancer patients and controls based on their mid-IR spectral response. For this purpose, EV-enriched suspensions were obtained from the serum of patients diagnosed with Hepatocellular Carcinoma (HCC) of nonviral origin and noncancer subjects. Our data point out the presence of statistically significant differences in the integrated intensities of major mid-IR absorption bands, including the carbohydrate and nucleic acids band, the protein amide I and II bands, and the lipid CH stretching band. Additionally, we used Principal Component Analysis combined with Linear Discriminant Analysis (PCA-LDA) for the automated classification of spectral data according to the shape of specific mid-IR spectral signatures. The diagnostic performances of the proposed spectral biomarkers, alone and combined, were evaluated using multivariate logistic regression followed by a Receiving Operator Curve analysis, obtaining large Areas Under the Curve (AUC = 0.91, 95% CI 0.81–1.0). Very interestingly, our analyses suggest that the discussed spectral biomarkers can outperform the classification ability of two widely used circulating HCC markers measured on the same groups of subjects, namely alpha-fetoprotein (AFP), and protein induced by the absence of vitamin K or antagonist-II (PIVKA-II). Full article

(This article belongs to the Special Issue Cancer Biomarker Research and Personalized Medicine 2.0)

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16 pages, 612 KiB

Open AccessEditor’s ChoiceReview

Gender and Autoimmune Liver Diseases: Relevant Aspects in Clinical Practice

by Federica Invernizzi, Marta Cilla, Silvia Trapani, Maria Guarino, Valentina Cossiga, Martina Gambato, Maria Cristina Morelli, Filomena Morisco, Patrizia Burra and Annarosa Floreani

J. Pers. Med. 2022, 12(6), 925; https://doi.org/10.3390/jpm12060925 - 02 Jun 2022

Cited by 12 | Viewed by 2535

Abstract

Autoimmune liver diseases (AILDs) include autoimmune hepatitis, primary biliary cholangitis and primary sclerosing cholangitis. The etiologies of AILD are not well understood but appear to involve a combination of genetic and environmental factors. AILDs commonly affect young individuals and are characterized by a [...] Read more.

Autoimmune liver diseases (AILDs) include autoimmune hepatitis, primary biliary cholangitis and primary sclerosing cholangitis. The etiologies of AILD are not well understood but appear to involve a combination of genetic and environmental factors. AILDs commonly affect young individuals and are characterized by a highly variable clinical course. These diseases significantly influence quality of life and can progress toward liver decompensation or the onset of hepatocellular or cholangiocarcinoma; a significant number of patients eventually progress to end-stage liver disease, requiring liver transplantation. In this review, we focus on the sex characteristics and peculiarities of AILD patients and highlight the relevance of a sex-specific analysis in future studies. Understanding the sex differences underlying AILD immune dysregulation may be critical for developing more effective treatments. Full article

(This article belongs to the Special Issue Personalized Medicine Interdisciplinary Aspects and Sex Gender-Specific Differences)

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23 pages, 1603 KiB

Open AccessEditor’s ChoiceReview

Metabolic Profiling in Rheumatoid Arthritis, Psoriatic Arthritis, and Psoriasis: Elucidating Pathogenesis, Improving Diagnosis, and Monitoring Disease Activity

by Erika Dorochow, Michaela Köhm, Lisa Hahnefeld and Robert Gurke

J. Pers. Med. 2022, 12(6), 924; https://doi.org/10.3390/jpm12060924 - 02 Jun 2022

Cited by 9 | Viewed by 2974

Abstract

Immune-mediated inflammatory diseases (IMIDs), such as rheumatoid arthritis (RA), psoriatic arthritis (PsA), and psoriasis (Ps), represent autoinflammatory and autoimmune disorders, as well as conditions that have an overlap of both categories. Understanding the underlying pathogeneses, making diagnoses, and choosing individualized treatments remain challenging [...] Read more.

Immune-mediated inflammatory diseases (IMIDs), such as rheumatoid arthritis (RA), psoriatic arthritis (PsA), and psoriasis (Ps), represent autoinflammatory and autoimmune disorders, as well as conditions that have an overlap of both categories. Understanding the underlying pathogeneses, making diagnoses, and choosing individualized treatments remain challenging due to heterogeneous disease phenotypes and the lack of reliable biomarkers that drive the treatment choice. In this review, we provide an overview of the low-molecular-weight metabolites that might be employed as biomarkers for various applications, e.g., early diagnosis, disease activity monitoring, and treatment-response prediction, in RA, PsA, and Ps. The literature was evaluated, and putative biomarkers in different matrices were identified, categorized, and summarized. While some of these candidate biomarkers appeared to be disease-specific, others were shared across multiple IMIDs, indicating common underlying disease mechanisms. However, there is still a long way to go for their application in a routine clinical setting. We propose that studies integrating omics analyses of large patient cohorts from different IMIDs should be performed to further elucidate their pathomechanisms and treatment options. This could lead to the identification and validation of biomarkers that might be applied in the context of precision medicine to improve the clinical outcomes of these IMID patients. Full article

(This article belongs to the Special Issue Research of Metabolomics in Clinical Immunology)

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17 pages, 784 KiB

Open AccessEditor’s ChoiceReview

by Mirabela Romanescu, Valentina Buda, Adelina Lombrea, Minodora Andor, Ionut Ledeti, Maria Suciu, Corina Danciu, Cristina Adriana Dehelean and Liana Dehelean

J. Pers. Med. 2022, 12(6), 907; https://doi.org/10.3390/jpm12060907 - 31 May 2022

Cited by 16 | Viewed by 4809

Abstract

In the last decades, both animal and human studies have neglected female subjects with the aim of evading a theorized intricacy of feminine hormonal status. However, clinical experience proves that pharmacological response may vary between the two sexes since pathophysiological dissimilarities between men [...] Read more.

In the last decades, both animal and human studies have neglected female subjects with the aim of evading a theorized intricacy of feminine hormonal status. However, clinical experience proves that pharmacological response may vary between the two sexes since pathophysiological dissimilarities between men and women significantly influence the pharmacokinetics and pharmacodynamics of drugs. Sex-related differences in central nervous system (CNS) medication are particularly challenging to assess due to the complexity of disease manifestation, drugs’ intricate mechanisms of action, and lack of trustworthy means of evaluating the clinical response to medication. Although many studies showed contrary results, it appears to be a general tendency towards a certain sex-related difference in each pharmacological class. Broadly, opioids seem to produce better analgesia in women especially when they are administered for a prolonged period of time. On the other hand, respiratory and gastrointestinal adverse drug reactions (ADRs) following morphine therapy are more prevalent among female patients. Regarding antidepressants, studies suggest that males might respond better to tricyclic antidepressants (TCAs), whereas females prefer selective serotonin reuptake inhibitors (SSRI), probably due to their tolerance to particular ADRs. In general, studies missed spotting any significant sex-related differences in the therapeutic effect of antiepileptic drugs (AED), but ADRs have sex variations in conjunction with sex hormones’ metabolism. On the subject of antipsychotic therapy, women appear to have a superior response to this pharmacological class, although there are also studies claiming the opposite. However, it seems that reported sex-related differences regarding ADRs are steadier: women are more at risk of developing various side effects, such as metabolic dysfunctions, cardiovascular disorders, and hyperprolactinemia. Taking all of the above into account, it seems that response to CNS drugs might be occasionally influenced by sex as a biological variable. Nonetheless, although for each pharmacological class, studies generally converge to a certain pattern, opposite outcomes are standing in the way of a clear consensus. Hence, the fact that so many studies are yielding conflicting results emphasizes once again the need to address sex-related differences in pharmacological response to drugs. Full article

(This article belongs to the Special Issue Personalized Treatment and Diagnosis Strategies in Psychiatry)

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13 pages, 1849 KiB

Open AccessEditor’s ChoiceReview

Digital Anthropometry for Body Circumference Measurements: European Phenotypic Variations throughout the Decades

by Marco Alessandro Minetto, Angelo Pietrobelli, Chiara Busso, Jonathan P. Bennett, Andrea Ferraris, John A. Shepherd and Steven B. Heymsfield

J. Pers. Med. 2022, 12(6), 906; https://doi.org/10.3390/jpm12060906 - 30 May 2022

Cited by 15 | Viewed by 3964

Abstract

This review summarizes body circumference-based anthropometrics that are in common use for research and in some cases clinical application. These include waist and hip circumference-based central body indices to predict cardiometabolic risk: waist circumference, waist-to-hip ratio, waist-to-height ratio, waist-to-thigh ratio, body adiposity index, [...] Read more.

This review summarizes body circumference-based anthropometrics that are in common use for research and in some cases clinical application. These include waist and hip circumference-based central body indices to predict cardiometabolic risk: waist circumference, waist-to-hip ratio, waist-to-height ratio, waist-to-thigh ratio, body adiposity index, a body shape index (ABSI), hip index (HI), and body roundness index (BRI). Limb circumference measurements are most often used to assess sarcopenia and include: thigh circumference, calf circumference, and mid-arm circumference. Additionally, this review presents fascinating recent developments in optic-based imaging technologies that have elucidated changes over the last decades in average body size and shape in European populations. The classical apple and pear shape concepts of body shape difference remain useful, but novel and exciting 3-D optical “e-taper” measurements provide a potentially powerful new future vista in anthropometrics. Full article

(This article belongs to the Special Issue Personalized Medicine Interdisciplinary Aspects and Sex Gender-Specific Differences)

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13 pages, 1979 KiB

Open AccessEditor’s ChoiceArticle

Survey on Use of Local and Systemic Corticosteroids in the Management of Chronic Rhinosinusitis with Nasal Polyps: Identification of Unmet Clinical Needs

by Eugenio De Corso, Carlotta Pipolo, Elena Cantone, Giancarlo Ottaviano, Stefania Gallo, Frank Rikki Mauritz Canevari, Alberto Macchi, Giulia Monti, Carlo Cavaliere, Ignazio La Mantia, Sara Torretta, Francesco Bussu, Emanuele Scarano, Paolo Petrone, Angelo Ghidini, Daniela Lucidi, Massimiliano Garzaro, Matteo Trimarchi, Veronica Seccia, Giulio Cesare Passali, Daria Salsi, Domenico Cuda, Ernesto Pasquini, Luca Malvezzi, Stefano Settimi, Gaetano Paludetti and Jacopo Galli Show full author list Hide full author list

J. Pers. Med. 2022, 12(6), 897; https://doi.org/10.3390/jpm12060897 - 29 May 2022

Cited by 21 | Viewed by 2706

Abstract

Background: Local and systemic corticosteroids have long been the workhorse in management of chronic rhinosinusitis with nasal polyps (CRSwNP), although there is no universally accepted modality of prescription. We carried out a survey in Italy to capture current trends in the use [...] Read more.

Background: Local and systemic corticosteroids have long been the workhorse in management of chronic rhinosinusitis with nasal polyps (CRSwNP), although there is no universally accepted modality of prescription. We carried out a survey in Italy to capture current trends in the use of topical and systemic corticosteroids in patients with CRSwNP. Methods: A survey was set up on Survey Monkey^®. Each author distributed the link to the survey in an ad hoc manner and a total of 437 participants filled out the survey. Results: Mometasone furoate (79.3%) was the most frequently prescribed, administered daily by 61.9% of participants; the remaining preferred to discontinue treatment for brief periods to reduce side effects or to modulate the therapy in mild cases. The majority believe that a short cycle of systemic steroids should be prescribed for re-exacerbation of symptoms and that the number of cycles in the previous year should be evaluated to define control of the disease even if international guidelines do not provide clear indications on this topic. A certain degree of divergence emerged from responses regarding how long and the maximal dose of systemic steroids which place patients at high risk for adverse events. Finally, systemic corticosteroids seem to offer only temporary benefit on recovery of smell without guaranteeing long-term control even if the patient is adherent to topical corticosteroids. Conclusions: Our results highlight the need for clear guidelines on oral steroids, which could help supporting the use of a precision medicine approach, including indications for new biological agents. Full article

(This article belongs to the Special Issue Personalized Medicine in Otorhinolaryngology)

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22 pages, 855 KiB

Open AccessEditor’s ChoiceReview

From Skin Barrier Dysfunction to Systemic Impact of Atopic Dermatitis: Implications for a Precision Approach in Dermocosmetics and Medicine

by Laura Maintz, Thomas Bieber, Helen D. Simpson and Anne-Laure Demessant-Flavigny

J. Pers. Med. 2022, 12(6), 893; https://doi.org/10.3390/jpm12060893 - 28 May 2022

Cited by 12 | Viewed by 3746

Abstract

Atopic dermatitis (AD) affects up to 20% of children and is considered the starting point of the atopic march with the development of food allergy, asthma, and allergic rhinitis. The heterogeneous phenotype reflects distinct and/or overlapping pathogenetic mechanisms with varying degrees of epidermal [...] Read more.

Atopic dermatitis (AD) affects up to 20% of children and is considered the starting point of the atopic march with the development of food allergy, asthma, and allergic rhinitis. The heterogeneous phenotype reflects distinct and/or overlapping pathogenetic mechanisms with varying degrees of epidermal barrier disruption, activation of different T cell subsets and dysbiosis of the skin microbiome. Here, we review current evidence suggesting a systemic impact of the cutaneous inflammation in AD together with a higher risk of asthma and other comorbidities, especially in severe and persistent AD. Thus, early therapy of AD to restore the impaired skin barrier, modified microbiome, and target type 2 inflammation, depending on the (endo)phenotype, in a tailored approach is crucial. We discuss what we can learn from the comorbidities and the implications for preventive and therapeutic interventions from precision dermocosmetics to precision medicine. The stratification of AD patients into biomarker-based endotypes for a precision medicine approach offers opportunities for better long-term control of AD with the potential to reduce the systemic impact of a chronic skin inflammation and even prevent or modify the course, not only of AD, but possibly also the comorbidities, depending on the patient’s age and disease stage. Full article

(This article belongs to the Special Issue Precision Medicine in Childhood Asthma)

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16 pages, 3109 KiB

Open AccessEditor’s ChoiceArticle

MDMF: Predicting miRNA–Disease Association Based on Matrix Factorization with Disease Similarity Constraint

by Jihwan Ha

J. Pers. Med. 2022, 12(6), 885; https://doi.org/10.3390/jpm12060885 - 27 May 2022

Cited by 15 | Viewed by 1965

Abstract

MicroRNAs (miRNAs) have drawn enormous attention owing to their significant roles in various biological processes, as well as in the pathogenesis of human diseases. Therefore, predicting miRNA–disease associations is a pivotal task for the early diagnosis and better understanding of disease pathogenesis. To [...] Read more.

MicroRNAs (miRNAs) have drawn enormous attention owing to their significant roles in various biological processes, as well as in the pathogenesis of human diseases. Therefore, predicting miRNA–disease associations is a pivotal task for the early diagnosis and better understanding of disease pathogenesis. To date, numerous computational frameworks have been proposed to identify potential miRNA–disease associations without escalating the costs and time required for clinical experiments. In this regard, I propose a novel computational framework (MDMF) for identifying potential miRNA–disease associations using matrix factorization with a disease similarity constraint. To evaluate the performance of MDMF, I calculated the area under the ROC curve (AUCs) in the framework of global and local leave-one-out cross-validation (LOOCV). In conclusion, MDMF achieved reliable AUC values of 0.9147 and 0.8905 for global and local LOOCV, respectively, which was a significant improvement upon the previous methods. Additionally, case studies were conducted on two major human cancers (breast cancer and lung cancer) to validate the effectiveness of MDMF. Comprehensive experimental results demonstrate that MDMF not only discovers miRNA–disease associations efficiently but also deciphers the underlying roles of miRNAs in the pathogenesis of diseases at a system level. Full article

(This article belongs to the Topic Big Data in Healthcare, Bioinformatics and Precision Medicine)

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15 pages, 38588 KiB

Open AccessEditor’s ChoiceArticle

Diagnostic Challenge of Invasive Lobular Carcinoma of the Breast: What Is the News? Breast Magnetic Resonance Imaging and Emerging Role of Contrast-Enhanced Spectral Mammography

by Melania Costantini, Rino Aldo Montella, Maria Paola Fadda, Vincenzo Tondolo, Gianluca Franceschini, Sonia Bove, Giorgia Garganese and Pierluigi Maria Rinaldi

J. Pers. Med. 2022, 12(6), 867; https://doi.org/10.3390/jpm12060867 - 25 May 2022

Cited by 10 | Viewed by 2656

Abstract

Invasive lobular carcinoma is the second most common histologic form of breast cancer, representing 5% to 15% of all invasive breast cancers. Due to an insidious proliferative pattern, invasive lobular carcinoma remains clinically and radiologically elusive in many cases. Breast magnetic resonance imaging [...] Read more.

Invasive lobular carcinoma is the second most common histologic form of breast cancer, representing 5% to 15% of all invasive breast cancers. Due to an insidious proliferative pattern, invasive lobular carcinoma remains clinically and radiologically elusive in many cases. Breast magnetic resonance imaging (MR) is considered the most accurate imaging modality in detecting and staging invasive lobular carcinoma and it is strongly recommended in pre-operative planning for all ILC. Contrast-enhanced spectral mammography (CESM) is a new diagnostic method that enables the accurate detection of malignant breast lesions similar to that of breast MR. CESM is also a promising breast imaging method for planning surgeries. In this study, we compare the ability of contrast-enhanced spectral mammography (CESM) with breast MR in the preoperative assessment of the extent of invasive lobular carcinoma. All patients with proven invasive lobular carcinoma treated in our breast cancer center underwent preoperative breast MRI and CESM. Images were reviewed by two dedicated breast radiologists and results were compared to the reference standard histopathology. CESM was similar and in some cases more accurate than breast MR in assessing the extent of disease in invasive lobular cancers. Further evaluation in larger prospective randomized trials is needed to validate our preliminary results. Full article

(This article belongs to the Section Personalized Therapy and Drug Delivery)

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22 pages, 1899 KiB

Open AccessEditor’s ChoiceReview

CFTR and Gastrointestinal Cancers: An Update

by Rahul Bhattacharya, Zachary Blankenheim, Patricia M. Scott and Robert T. Cormier

J. Pers. Med. 2022, 12(6), 868; https://doi.org/10.3390/jpm12060868 - 25 May 2022

Cited by 8 | Viewed by 3160

Abstract

Cystic Fibrosis (CF) is a disease caused by mutations in the CFTR gene that severely affects the lungs as well as extra-pulmonary tissues, including the gastrointestinal (GI) tract. CFTR dysfunction resulting from either mutations or the downregulation of its expression has been shown [...] Read more.

Cystic Fibrosis (CF) is a disease caused by mutations in the CFTR gene that severely affects the lungs as well as extra-pulmonary tissues, including the gastrointestinal (GI) tract. CFTR dysfunction resulting from either mutations or the downregulation of its expression has been shown to promote carcinogenesis. An example is the enhanced risk for several types of cancer in patients with CF, especially cancers of the GI tract. CFTR also acts as a tumor suppressor in diverse sporadic epithelial cancers in many tissues, primarily due to the silencing of CFTR expression via multiple mechanisms, but especially due to epigenetic regulation. This review provides an update on the latest research linking CFTR-deficiency to GI cancers, in both CF patients and in sporadic GI cancers, with a particular focus on cancer of the intestinal tract. It will discuss changes in the tissue landscape linked to CFTR-deficiency that may promote cancer development such as breakdowns in physical barriers, microbial dysbiosis and inflammation. It will also discuss molecular pathways and mechanisms that act upstream to modulate CFTR expression, such as by epigenetic silencing, as well as molecular pathways that act downstream of CFTR-deficiency, such as the dysregulation of the Wnt/β-catenin and NF-κB signaling pathways. Finally, it will discuss the emerging CFTR modulator drugs that have shown promising results in improving CFTR function in CF patients. The potential impact of these modulator drugs on the treatment and prevention of GI cancers can provide a new example of personalized cancer medicine. Full article

(This article belongs to the Special Issue Cystic Fibrosis: Diagnosis, Treatment, and Related Disorders)

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16 pages, 440 KiB

Open AccessEditor’s ChoiceReview

Immunotherapy for Squamous Esophageal Cancer: A Review

by Angelica Petrillo and Elizabeth C. Smyth

J. Pers. Med. 2022, 12(6), 862; https://doi.org/10.3390/jpm12060862 - 25 May 2022

Cited by 10 | Viewed by 3901

Abstract

Esophageal squamous cell carcinoma (ESCC) is a rare gastrointestinal tumour with high mortality. A multimodality treatment based on chemoradiotherapy followed by surgery is the standard of care in the case of non-metastatic disease; chemotherapy has historically been the gold standard in the metastatic [...] Read more.

Esophageal squamous cell carcinoma (ESCC) is a rare gastrointestinal tumour with high mortality. A multimodality treatment based on chemoradiotherapy followed by surgery is the standard of care in the case of non-metastatic disease; chemotherapy has historically been the gold standard in the metastatic setting. However, the rate of relapse after curative treatment is high and the prognosis of ESCC is poor. In this context, immunotherapy is a novel and intriguing chance to improve survival. Therefore, in this narrative review, we depict the current scenario in the field of immunotherapy for ESCC according to the stage of disease and alongside the discussion of promising biomarkers and future perspectives. The Checkmate-577 trial showed that nivolumab is the best option as adjuvant treatment in patients with non-metastatic ESCC and residual disease after a multimodality approach. In the metastatic setting, nivolumab, pembrolizumab, camrelizumab, sintilimab and toripalimab improved survival outcomes as a first-line treatment in addition to chemotherapy. In the second-line, nivolumab, pembrolizumab, camrelizumab and tislelizumab showed positive results, with differences according to the subgroups, agents and study population included in the trials. Then, the finding of valid molecular biomarkers is crucial in selecting patients for immunotherapy. Full article

(This article belongs to the Special Issue The Present and Future of Personalized Medicine in Oncology)

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22 pages, 3223 KiB

Open AccessEditor’s ChoiceReview

Precision Medicine in Head and Neck Cancers: Genomic and Preclinical Approaches

by Giacomo Miserocchi, Chiara Spadazzi, Sebastiano Calpona, Francesco De Rosa, Alice Usai, Alessandro De Vita, Chiara Liverani, Claudia Cocchi, Silvia Vanni, Chiara Calabrese, Massimo Bassi, Giovanni De Luca, Giuseppe Meccariello, Toni Ibrahim, Marco Schiavone and Laura Mercatali

J. Pers. Med. 2022, 12(6), 854; https://doi.org/10.3390/jpm12060854 - 24 May 2022

Cited by 13 | Viewed by 3131

Abstract

Head and neck cancers (HNCs) represent the sixth most widespread malignancy worldwide. Surgery, radiotherapy, chemotherapeutic and immunotherapeutic drugs represent the main clinical approaches for HNC patients. Moreover, HNCs are characterised by an elevated mutational load; however, specific genetic mutations or biomarkers have not [...] Read more.

Head and neck cancers (HNCs) represent the sixth most widespread malignancy worldwide. Surgery, radiotherapy, chemotherapeutic and immunotherapeutic drugs represent the main clinical approaches for HNC patients. Moreover, HNCs are characterised by an elevated mutational load; however, specific genetic mutations or biomarkers have not yet been found. In this scenario, personalised medicine is showing its efficacy. To study the reliability and the effects of personalised treatments, preclinical research can take advantage of next-generation sequencing and innovative technologies that have been developed to obtain genomic and multi-omic profiles to drive personalised treatments. The crosstalk between malignant and healthy components, as well as interactions with extracellular matrices, are important features which are responsible for treatment failure. Preclinical research has constantly implemented in vitro and in vivo models to mimic the natural tumour microenvironment. Among them, 3D systems have been developed to reproduce the tumour mass architecture, such as biomimetic scaffolds and organoids. In addition, in vivo models have been changed over the last decades to overcome problems such as animal management complexity and time-consuming experiments. In this review, we will explore the new approaches aimed to improve preclinical tools to study and apply precision medicine as a therapeutic option for patients affected by HNCs. Full article

(This article belongs to the Special Issue Personalized Medicine in Cancer Therapy: Mechanism, Approaches and Techniques)

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22 pages, 982 KiB

Open AccessEditor’s ChoiceReview

Personalized Management of Patients with Chronic Rhinosinusitis with Nasal Polyps in Clinical Practice: A Multidisciplinary Consensus Statement

by Eugenio De Corso, Maria Beatrice Bilò, Andrea Matucci, Veronica Seccia, Fulvio Braido, Matteo Gelardi, Enrico Heffler, Manuela Latorre, Luca Malvezzi, Girolamo Pelaia, Gianenrico Senna, Paolo Castelnuovo and Giorgio Walter Canonica

J. Pers. Med. 2022, 12(5), 846; https://doi.org/10.3390/jpm12050846 - 23 May 2022

Cited by 14 | Viewed by 3871

Abstract

Chronic rhinosinusitis (CRS) is a sino-nasal chronic inflammatory disease, occurring in 5–15% of the general population. CRS with nasal polyps (CRSwNP) is present in up to 30% of the CRS population. One-third of CRSwNP patients suffer from disease that is uncontrolled by current [...] Read more.

Chronic rhinosinusitis (CRS) is a sino-nasal chronic inflammatory disease, occurring in 5–15% of the general population. CRS with nasal polyps (CRSwNP) is present in up to 30% of the CRS population. One-third of CRSwNP patients suffer from disease that is uncontrolled by current standards of care. Biologics are an emerging treatment option for patients with severe uncontrolled CRSwNP, but their positioning in the treatment algorithm is under discussion. Effective endotyping of CRSwNP patients who could benefit from biologics treatment is required, as suggested by international guidelines. Other issues affecting management include comorbidities, such as allergy, non-steroidal anti-inflammatory drug–exacerbated respiratory disease, and asthma. Therefore, the choice of treatment in CRSwNP patients depends on many factors. A multidisciplinary approach may improve CRSwNP management in patients with comorbidities, but currently there is no shared management model. We summarize the outcomes of a Delphi process involving a multidisciplinary panel of otolaryngologists, pulmonologists, and allergist-immunologists involved in the management of CRSwNP, who attempted to reach consensus on key statements relating to the diagnosis, endotyping, classification and management (including the place of biologics) of CRSwNP patients. Full article

(This article belongs to the Special Issue Personalized Medicine in Otorhinolaryngology)

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13 pages, 869 KiB

Open AccessEditor’s ChoiceReview

Paucigranulocytic Asthma: Potential Pathogenetic Mechanisms, Clinical Features and Therapeutic Management

by Andriana I. Papaioannou, Evangelia Fouka, Polyxeni Ntontsi, Grigoris Stratakos and Spyridon Papiris

J. Pers. Med. 2022, 12(5), 850; https://doi.org/10.3390/jpm12050850 - 23 May 2022

Cited by 8 | Viewed by 2965

Abstract

Asthma is a heterogeneous disease usually characterized by chronic airway inflammation, in which several phenotypes have been described, related to the age of onset, symptoms, inflammatory characteristics and treatment response. The identification of the inflammatory phenotype in asthma is very useful, since it [...] Read more.

Asthma is a heterogeneous disease usually characterized by chronic airway inflammation, in which several phenotypes have been described, related to the age of onset, symptoms, inflammatory characteristics and treatment response. The identification of the inflammatory phenotype in asthma is very useful, since it allows for both the recognition of the asthmatic triggering factor as well as the optimization of treatment The paucigranulocytic phenotype of asthma (PGA) is characterized by sputum eosinophil levels <1–3% and sputum neutrophil levels < 60%. The precise characteristics and the pathobiology of PGA are not fully understood, and, in some cases, it seems to represent a previous eosinophilic phenotype with a good response to anti-inflammatory treatment. However, many patients with PGA remain uncontrolled and experience asthmatic symptoms and exacerbations, irrespective of the low grade of airway inflammation. This observation leads to the hypothesis that PGA might also be either a special phenotype driven by different kinds of cells, such as macrophages or mast cells, or a non-inflammatory phenotype with a low grade of eosinophilic inflammation. In this review, we aim to describe the special characteristics of PGA and the potential therapeutic interventions that could be offered to these patients. Full article

(This article belongs to the Special Issue Asthma: From Phenotypes to Personalized Medicine)

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28 pages, 2862 KiB

Open AccessEditor’s ChoiceReview

Diffuse Intrinsic Pontine Glioma: Molecular Landscape, Evolving Treatment Strategies and Emerging Clinical Trials

by Sudarshawn Damodharan, Montserrat Lara-Velazquez, Brooke Carmen Williamsen, Jeffrey Helgager and Mahua Dey

J. Pers. Med. 2022, 12(5), 840; https://doi.org/10.3390/jpm12050840 - 20 May 2022

Cited by 16 | Viewed by 6920

Abstract

Diffuse intrinsic pontine glioma (DIPG) is a type of intrinsic brainstem glial tumor that occurs primarily in the pediatric population. DIPG is initially diagnosed based on clinical symptoms and the characteristic location on imaging. Histologically, these tumors are characterized by a heterogenous population [...] Read more.

Diffuse intrinsic pontine glioma (DIPG) is a type of intrinsic brainstem glial tumor that occurs primarily in the pediatric population. DIPG is initially diagnosed based on clinical symptoms and the characteristic location on imaging. Histologically, these tumors are characterized by a heterogenous population of cells with multiple genetic mutations and high infiltrative capacity. The most common mutation seen in this group is a lysine to methionine point mutation seen at position 27 (K27M) within histone 3 (H3). Tumors with the H3 K27M mutation, are considered grade 4 and are now categorized within the H3 K27-altered diffuse midline glioma category by World Health Organization classification. Due to its critical location and aggressive nature, DIPG is resistant to the most eradicative treatment and is universally fatal; however, modern advances in the surgical techniques resulting in safe biopsy of the lesion have significantly improved our understanding of this disease at the molecular level. Genomic analysis has shown several mutations that play a role in the pathophysiology of the disease and can be targeted therapeutically. In this review, we will elaborate on DIPG from general aspects and the evolving molecular landscape. We will also review innovative therapeutic options that have been trialed along with new promising treatments on the horizon. Full article

(This article belongs to the Special Issue Personalized Medicine in Brain Tumors)

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16 pages, 988 KiB

Open AccessEditor’s ChoiceSystematic Review

BMI at Discharge from Treatment Predicts Relapse in Anorexia Nervosa: A Systematic Scoping Review

by Stein Frostad, Natalia Rozakou-Soumalia, Ştefana Dârvariu, Bahareh Foruzesh, Helia Azkia, Malina Ploug Larsen, Ehsan Rowshandel and Jan Magnus Sjögren

J. Pers. Med. 2022, 12(5), 836; https://doi.org/10.3390/jpm12050836 - 20 May 2022

Cited by 13 | Viewed by 5203

Abstract

Background: Anorexia nervosa (AN) has high rates of enduring disease and mortality. Currently, there is insufficient knowledge on the predictors of relapse after weight normalization and this is why a systematic literature review was performed. Methods: PubMed, EMBASE, PsychInfo, and Cochrane databases were [...] Read more.

Background: Anorexia nervosa (AN) has high rates of enduring disease and mortality. Currently, there is insufficient knowledge on the predictors of relapse after weight normalization and this is why a systematic literature review was performed. Methods: PubMed, EMBASE, PsychInfo, and Cochrane databases were searched for literature published until 13 July 2021. All study designs were eligible for inclusion if they focused on predictors of relapse after weight normalization in AN. Individual study definitions of relapse were used, and in general, this was either a drop in BMI and/or reccurrence of AN symptoms. Results: The database search identified 11,507 publications, leaving 9511 publications after the removal of duplicates and after a review of abstracts and titles; 191 were selected for full-text review. Nineteen publications met the criteria and included 1398 AN patients and 39 healthy controls (HC) from adults and adolescents (ages range 11–73 years). The majority used a prospective observational study design (12 studies), a few used a retrospective observational design (6 studies), and only one was a non-randomized control trial (NRCT). Sample sizes ranged from 16 to 191 participants. BMI or measures of body fat and leptin levels at discharge were the strongest predictors of relapse with an approximate relapse rate of 50% at 12 months. Other predictors included signs of eating disorder psychopathology at discharge. Conclusions: BMI at the end of treatment is a predictor of relapse in AN, which is why treatment should target a BMI well above 20. Together with the time to relapse, these outcomes are important to include in the evaluation of current and novel treatments in AN and for benchmarking. Full article

(This article belongs to the Special Issue Biomarkers and Clinical Research in Eating Disorders)

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12 pages, 1959 KiB

Open AccessEditor’s ChoiceArticle

Spasticity Management after Spinal Cord Injury: The Here and Now

by Zackery J. Billington, Austin M. Henke and David R. Gater, Jr.

J. Pers. Med. 2022, 12(5), 808; https://doi.org/10.3390/jpm12050808 - 17 May 2022

Cited by 9 | Viewed by 3956

Abstract

Spasticity is a common comorbidity of spinal cord injury (SCI) that is characterized by velocity dependent tone and spasms manifested by uninhibited reflex activity of muscles below the level of injury. For some, spasticity can be beneficial and facilitate functional standing, transfers, and [...] Read more.

Spasticity is a common comorbidity of spinal cord injury (SCI) that is characterized by velocity dependent tone and spasms manifested by uninhibited reflex activity of muscles below the level of injury. For some, spasticity can be beneficial and facilitate functional standing, transfers, and some activities of daily living. For others, it may be problematic, painful, and interfere with mobility and function. This manuscript will address the anatomy and physiology of neuromuscular reflexes as well as the pathophysiology that occurs after SCI. Spasticity assessment will be discussed in terms of clinical history and findings on physical examinations, including responses to passive and active movement, deep tendon reflexes, and other long tract signs of upper motor neuron injury, as well as gait and function. Management strategies will be discussed including stretch, modalities, pharmacotherapy, neurolysis, and surgical options. Full article

(This article belongs to the Special Issue Pathophysiology and Treatment of Secondary Conditions after Spinal Cord Injury)

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29 pages, 1462 KiB

Open AccessEditor’s ChoiceReview

Dysregulated miRNAs as Biomarkers and Therapeutical Targets in Neurodegenerative Diseases

by Giulia Gentile, Giovanna Morello, Valentina La Cognata, Maria Guarnaccia, Francesca Luisa Conforti and Sebastiano Cavallaro

J. Pers. Med. 2022, 12(5), 770; https://doi.org/10.3390/jpm12050770 - 10 May 2022

Cited by 22 | Viewed by 5206

Abstract

Alzheimer’s disease (AD), Parkinson’s disease (PD), and Amyotrophic Lateral Sclerosis (ALS) are representative neurodegenerative diseases (NDs) characterized by degeneration of selective neurons, as well as the lack of effective biomarkers and therapeutic treatments. In the last decade, microRNAs (miRNAs) have gained considerable interest [...] Read more.

Alzheimer’s disease (AD), Parkinson’s disease (PD), and Amyotrophic Lateral Sclerosis (ALS) are representative neurodegenerative diseases (NDs) characterized by degeneration of selective neurons, as well as the lack of effective biomarkers and therapeutic treatments. In the last decade, microRNAs (miRNAs) have gained considerable interest in diagnostics and therapy of NDs, owing to their aberrant expression and their ability to target multiple molecules and pathways. Here, we provide an overview of dysregulated miRNAs in fluids (blood or cerebrospinal fluid) and nervous tissue of AD, PD, and ALS patients. By emphasizing those that are commonly dysregulated in these NDs, we highlight their potential role as biomarkers or therapeutical targets and describe the use of antisense oligonucleotides as miRNA therapies. Full article

(This article belongs to the Section Omics/Informatics)

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21 pages, 472 KiB

Open AccessEditor’s ChoiceReview

Non-Pharmacological Nursing Interventions to Prevent Delirium in ICU Patients—An Umbrella Review with Implications for Evidence-Based Practice

by Sandra Lange, Wioletta Mędrzycka-Dąbrowska, Adriano Friganovic, Ber Oomen and Sabina Krupa

J. Pers. Med. 2022, 12(5), 760; https://doi.org/10.3390/jpm12050760 - 07 May 2022

Cited by 13 | Viewed by 9591

Abstract

Delirium in ICU patients is a complication associated with many adverse consequences. Given the high prevalence of this complication in critically ill patients, it is essential to develop and implement an effective management protocol to prevent delirium. Given that the cause of delirium [...] Read more.

Delirium in ICU patients is a complication associated with many adverse consequences. Given the high prevalence of this complication in critically ill patients, it is essential to develop and implement an effective management protocol to prevent delirium. Given that the cause of delirium is multifactorial, non-pharmacological multicomponent interventions are promising strategies for delirium prevention. (1) Background: To identify and evaluate published systematic review on non-pharmacological nursing interventions to prevent delirium in intensive care unit patients. (2) Methods: An umbrella review guided by the Joanna Briggs Institute was utilized. Data were obtained from PubMed, Scopus, EBSCO, Web of Science, Cochrane Library, and Google Scholar. The last search was conducted on 1 May 2022. (3) Results: Fourteen reviews met the inclusion criteria. Multicomponent interventions are the most promising methods in the fight against delirium. The patient’s family is an important part of the process and should be included in the delirium prevention scheme. Light therapy can improve the patient’s circadian rhythm and thus contribute to reducing the incidence of delirium. (4) Conclusions: Non-pharmacological nursing interventions may be effective in preventing and reducing the duration of delirium in ICU patients. Full article

(This article belongs to the Special Issue Advances in Personalized Nursing Care)

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16 pages, 8790 KiB

Open AccessEditor’s ChoiceReview

Patterns of Recurrent Disease in Cervical Cancer

by Maura Miccò, Michela Lupinelli, Matteo Mangialardi, Benedetta Gui and Riccardo Manfredi

J. Pers. Med. 2022, 12(5), 755; https://doi.org/10.3390/jpm12050755 - 06 May 2022

Cited by 9 | Viewed by 7040

Abstract

Uterine cervical cancer is one of the most common causes of cancer-related deaths among women worldwide. Patients with cervical cancer are at a high risk of pelvic recurrence or distant metastases within the first few years after primary treatment. However, no definitive agreement [...] Read more.

Uterine cervical cancer is one of the most common causes of cancer-related deaths among women worldwide. Patients with cervical cancer are at a high risk of pelvic recurrence or distant metastases within the first few years after primary treatment. However, no definitive agreement exists on the best post-treatment surveillance in these patients. Imaging may represent an accurate method of detecting relapse early, right when salvage treatment could be effective. In patients with recurrent cervical cancer, the correct interpretation of imaging may support the surgeon in the proper selection of patients prior to surgery to assess the feasibility of radical surgical procedure, or may help the clinician plan the most adaptive curative therapy. MRI can accurately define the extension of local recurrence and adjacent organ invasion; CT and 18F-FDG PET/CT may depict extra-pelvic distant metastases. This review illustrates different patterns of recurrent cervical cancer and how imaging, especially MRI, accurately contributes towards the diagnosis of local recurrence and the assessment of the extent of disease in patients with previous cervical cancer. Normal post-therapy pelvic appearance and possible pitfalls related to tissue changes for prior treatments will be also illustrated. Full article

(This article belongs to the Special Issue Diagnostics and Interventional Procedures in Gynecological Tumors)

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16 pages, 901 KiB

Open AccessEditor’s ChoiceArticle

Important Risk Factors in Patients with Nonvalvular Atrial Fibrillation Taking Dabigatran Using Integrated Machine Learning Scheme—A Post Hoc Analysis

by Yung-Chuan Huang, Yu-Chen Cheng, Mao-Jhen Jhou, Mingchih Chen and Chi-Jie Lu

J. Pers. Med. 2022, 12(5), 756; https://doi.org/10.3390/jpm12050756 - 06 May 2022

Cited by 11 | Viewed by 3002

Abstract

Our study aims to develop an effective integrated machine learning (ML) scheme to predict vascular events and bleeding in patients with nonvalvular atrial fibrillation taking dabigatran and identify important risk factors. This study is a post-hoc analysis from the Randomized Evaluation of Long-Term [...] Read more.

Our study aims to develop an effective integrated machine learning (ML) scheme to predict vascular events and bleeding in patients with nonvalvular atrial fibrillation taking dabigatran and identify important risk factors. This study is a post-hoc analysis from the Randomized Evaluation of Long-Term Anticoagulant Therapy trial database. One traditional prediction method, logistic regression (LGR), and four ML techniques—naive Bayes, random forest (RF), classification and regression tree, and extreme gradient boosting (XGBoost)—were combined to construct our scheme. Area under the receiver operating characteristic curve (AUC) of RF (0.780) and XGBoost (0.717) was higher than that of LGR (0.674) in predicting vascular events. In predicting bleeding, AUC of RF (0.684) and XGBoost (0.618) showed higher values than those generated by LGR (0.605). Our integrated ML feature selection scheme based on the two convincing prediction techniques identified age, history of congestive heart failure and myocardial infarction, smoking, kidney function, and body mass index as major variables of vascular events; age, kidney function, smoking, bleeding history, concomitant use of specific drugs, and dabigatran dosage as major variables of bleeding. ML is an effective data analysis algorithm for solving complex medical data. Our results may provide preliminary direction for precision medicine. Full article

(This article belongs to the Special Issue Big Data Analysis in Personalized Medicine)

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18 pages, 4822 KiB

Open AccessEditor’s ChoiceReview

FFPE-Based NGS Approaches into Clinical Practice: The Limits of Glory from a Pathologist Viewpoint

by Filippo Cappello, Valentina Angerilli, Giada Munari, Carlotta Ceccon, Marianna Sabbadin, Fabio Pagni, Nicola Fusco, Umberto Malapelle and Matteo Fassan

J. Pers. Med. 2022, 12(5), 750; https://doi.org/10.3390/jpm12050750 - 05 May 2022

Cited by 13 | Viewed by 4664

Abstract

The introduction of next-generation sequencing (NGS) in the molecular diagnostic armamentarium is deeply changing pathology practice and laboratory frameworks. NGS allows for the comprehensive molecular characterization of neoplasms, in order to provide the best treatment to oncologic patients. On the other hand, NGS [...] Read more.

The introduction of next-generation sequencing (NGS) in the molecular diagnostic armamentarium is deeply changing pathology practice and laboratory frameworks. NGS allows for the comprehensive molecular characterization of neoplasms, in order to provide the best treatment to oncologic patients. On the other hand, NGS raises technical issues and poses several challenges in terms of education, infrastructures and costs. The aim of this review is to give an overview of the main NGS sequencing platforms that can be used in current molecular diagnostics and gain insights into the clinical applications of NGS in precision oncology. Hence, we also focus on the preanalytical, analytical and interpretative issues raised by the incorporation of NGS in routine pathology diagnostics. Full article

(This article belongs to the Section Methodology, Drug and Device Discovery)

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