Medical Sciences

10 pages, 800 KiB

Open AccessArticle

Relationship between Cardiovascular Risk Factors and Composite Cardiovascular Outcomes in Patients Hospitalized with Takotsubo Syndrome: A Nationwide Analysis

by Nanush Damarlapally, Rupak Desai, Aanchal Sawhney, Jyoti Verma, Harroop Singh Klair, Dhanush Kolli, Birimroz Singh Sibia, Vardhan Chalasani, Rasya Reddy, Jithin Kolli, Ikechukwu Ogbu and Jyotsna Gummadi

Med. Sci. 2023, 11(3), 62; https://doi.org/10.3390/medsci11030062 - 21 Sep 2023

Cited by 1 | Viewed by 1444

Abstract

The association of traditional cardiovascular disease (CVD) risk factors with outcomes of Takotsubo syndrome (TTS) is not well-defined. This study examined how modifiable CVD risk factors affect composite cardiovascular outcomes in TTS hospitalizations. TTS admissions were identified using ICD-10 codes and compared for [...] Read more.

The association of traditional cardiovascular disease (CVD) risk factors with outcomes of Takotsubo syndrome (TTS) is not well-defined. This study examined how modifiable CVD risk factors affect composite cardiovascular outcomes in TTS hospitalizations. TTS admissions were identified using ICD-10 codes and compared for demographics and comorbidities using the 2019 National Inpatient Sample. A multivariable regression examined the association of traditional CVD risk variables with adverse composite cardiovascular outcomes in TTS, controlling for confounders including sociodemographic or hospital-level characteristics and other relevant comorbidities. A total of 16,055 (38.1%) of the 41,855 adult TTS admissions had composite cardiovascular outcomes (TACCO). The TACCO cohort was 81.5% white, 77.3% female, and 72 years old. This group had higher rates of diabetes and peripheral vascular disease (PVD). The results showed that a higher prevalence of diabetes with chronic complications (OR = 1.18) and complicated hypertension (HTN) (OR = 1.1) predicted TACCO, whereas tobacco use disorder (OR = 0.84), hyperlipidemia (OR = 0.76), and uncomplicated HTN (OR = 0.65) (p < 0.001) showed a paradoxical effect with TACCO. TACCO had fewer routine discharges (35.3% vs. 63.4%), longer stays (6 vs. 3 days), and higher median hospital costs (78,309 USD vs. 44,966 USD). This population-based study found that complicated HTN and DM with chronic complications are strongly associated with adverse cardiovascular outcomes in TTS hospitalizations. But still, some risk factors, such as hyperlipidemia and uncomplicated HTN, have counterintuitive effects that require further evaluation. To prevent cardiac events in TTS patients, traditional CVD risk factors must be addressed. Full article

(This article belongs to the Section Cardiovascular Disease)

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14 pages, 1977 KiB

Open AccessReview

A Bibliometric Analysis of the Rise of ChatGPT in Medical Research

by Nikki M. Barrington, Nithin Gupta, Basel Musmar, David Doyle, Nicholas Panico, Nikhil Godbole, Taylor Reardon and Randy S. D’Amico

Med. Sci. 2023, 11(3), 61; https://doi.org/10.3390/medsci11030061 - 17 Sep 2023

Cited by 7 | Viewed by 2880

Abstract

The rapid emergence of publicly accessible artificial intelligence platforms such as large language models (LLMs) has led to an equally rapid increase in articles exploring their potential benefits and risks. We performed a bibliometric analysis of ChatGPT literature in medicine and science to [...] Read more.

The rapid emergence of publicly accessible artificial intelligence platforms such as large language models (LLMs) has led to an equally rapid increase in articles exploring their potential benefits and risks. We performed a bibliometric analysis of ChatGPT literature in medicine and science to better understand publication trends and knowledge gaps. Following title, abstract, and keyword searches of PubMed, Embase, Scopus, and Web of Science databases for ChatGPT articles published in the medical field, articles were screened for inclusion and exclusion criteria. Data were extracted from included articles, with citation counts obtained from PubMed and journal metrics obtained from Clarivate Journal Citation Reports. After screening, 267 articles were included in the study, most of which were editorials or correspondence with an average of 7.5 +/− 18.4 citations per publication. Published articles on ChatGPT were authored largely in the United States, India, and China. The topics discussed included use and accuracy of ChatGPT in research, medical education, and patient counseling. Among non-surgical specialties, radiology published the most ChatGPT-related articles, while plastic surgery published the most articles among surgical specialties. The average citation number among the top 20 most-cited articles was 60.1 +/− 35.3. Among journals with the most ChatGPT-related publications, there were on average 10 +/− 3.7 publications. Our results suggest that managing the inevitable ethical and safety issues that arise with the implementation of LLMs will require further research exploring the capabilities and accuracy of ChatGPT, to generate policies guiding the adoption of artificial intelligence in medicine and science. Full article

(This article belongs to the Section Translational Medicine)

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11 pages, 373 KiB

Open AccessArticle

Evaluation of a Multi-Gene Methylation Blood-Test for the Detection of Colorectal Cancer

by Joel Petit, Georgia Carroll, Henry Williams, Peter Pockney and Rodney J. Scott

Med. Sci. 2023, 11(3), 60; https://doi.org/10.3390/medsci11030060 - 15 Sep 2023

Viewed by 1728

Abstract

Circulating tumour DNA biomarkers are an expanding field in oncology research that offer great potential but are currently often limited in value by overall cost. The aim of this study was to evaluate the efficacy of a novel multi-gene methylation blood test for [...] Read more.

Circulating tumour DNA biomarkers are an expanding field in oncology research that offer great potential but are currently often limited in value by overall cost. The aim of this study was to evaluate the efficacy of a novel multi-gene methylation blood test for the identification of colorectal cancer and throughout the spectrum of colorectal disease. Participants were recruited either prior to resection for known CRC or prior to screening colonoscopy after a positive faecal immunochemical test. Blood was collected from participants prior to their procedure being performed. The plasma was separated, and multiplex MethylLight droplet digital PCR was used to analyse for the presence of four methylated genes: SDC2, NPY, IKZF1 and SEPT9. A total of 537 participants underwent analysis. The SDC2/NPY genes showed a sensitivity of 33–54% and a specificity of 72–96%, whilst the IKZF1/SEPT9 genes showed a sensitivity of 19–42% and a specificity of 88–96%. Combining the two tests did not significantly increase the test accuracy. The sensitivity for advanced adenoma was 2–15%. There was a significant difference in the frequency of detectable methylation between the participants with CRC and those without CRC. However, neither the sensitivity nor the specificity was superior to current diagnostic screening tests. Full article

(This article belongs to the Section Cancer and Cancer-Related Research)

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12 pages, 1973 KiB

Open AccessArticle

Development of an Anthropomorphic Heterogeneous Female Pelvic Phantom and Its Comparison with a Homogeneous Phantom in Advance Radiation Therapy: Dosimetry Analysis

by Neha Yadav, Manisha Singh, Surendra P. Mishra and Shahnawaz Ansari

Med. Sci. 2023, 11(3), 59; https://doi.org/10.3390/medsci11030059 - 11 Sep 2023

Viewed by 1137

Abstract

Background: Accurate dosimetry is crucial in radiotherapy to ensure optimal radiation dose delivery to the tumor while sparing healthy tissues. Traditional dosimetry techniques using homogeneous phantoms may not accurately represent the complex anatomical variations in cervical cancer patients, highlighting the need to compare [...] Read more.

Background: Accurate dosimetry is crucial in radiotherapy to ensure optimal radiation dose delivery to the tumor while sparing healthy tissues. Traditional dosimetry techniques using homogeneous phantoms may not accurately represent the complex anatomical variations in cervical cancer patients, highlighting the need to compare dosimetry results obtained from different phantom models. Purpose: The aim of this study is to design and evaluate an anthropomorphic heterogeneous female pelvic (AHFP) phantom for radiotherapy quality assurance in cervical cancer treatment. Materials and method: Thirty RapidArc plans designed for cervical cancer patients were exported to both the RW3 homogeneous phantom and the anthropomorphic heterogeneous pelvic phantom. Dose calculations were performed using the anisotropic analytic algorithm (AAA), and the plans were delivered using a linear accelerator (LA). Dose measurements were obtained using a 0.6 cc ion chamber. The percentage (%) variation between planned and measured doses was calculated and analyzed. Additionally, relative dosimetry was performed for various target locations using RapidArc and IMRT treatment techniques. The AHFP phantom demonstrated excellent agreement between measured and expected dose distributions, making it a reliable quality assurance tool in radiotherapy. Results: The results reveal that the percentage variation between planned and measured doses for all RapidArc quality assurance (QA) plans using the AHFP phantom is 10.67% (maximum value), 2.31% (minimum value), and 6.89% (average value), with a standard deviation (SD) of 2.565 (t = 3.21604, p = 0.001063). Also, for the percentage of variation between homogeneous and AHFP phantoms, the t-value is −11.17016 and the p-value is <0.00001. The result is thus significant at p < 0.05. We can see that the outcomes differ significantly due to the influence of heterogeneous media. Also, the average gamma values in RapidArc plans are 0.29, 0.32, and 0.35 (g ≤ 1) and IMRT plans are 0.45, 0.44, and 0.42 (g ≤ 1) for targets 1, 2, and 3, respectively. Conclusion: The AHFP phantom results show more dose variability than homogenous phantom outcomes. Also, the AHFP phantom was found to be suitable for QA evaluation. Full article

(This article belongs to the Section Cancer and Cancer-Related Research)

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9 pages, 1294 KiB

Open AccessCommunication

The Anti-Inflammatory Action of Pulsed Radiofrequency—A Hypothesis and Potential Applications

by Menno E. Sluijter, Alexandre Teixeira, Kris Vissers, Luis Josino Brasil and Bert van Duijn

Med. Sci. 2023, 11(3), 58; https://doi.org/10.3390/medsci11030058 - 10 Sep 2023

Viewed by 1718

Abstract

In 2013, it was reported that pulsed radiofrequency (PRF) could be applied to obtain a systemic anti-inflammatory effect. Patients with chronic pain and patients with an inflammatory condition from other disciplines could potentially profit from this finding. At that time, intravenous application was [...] Read more.

In 2013, it was reported that pulsed radiofrequency (PRF) could be applied to obtain a systemic anti-inflammatory effect. Patients with chronic pain and patients with an inflammatory condition from other disciplines could potentially profit from this finding. At that time, intravenous application was used, but since then, it became clear that it could be applied transcutaneously as well. This procedure was named RedoxPRF. This can be used both for regional and for systemic application. Recently, the basic element of the mode of action has been clarified from the analysis of the effects of PRF on a standard model of muscle injury in rats. The objective of this paper is to present a hypothesis on the mode of action of RedoxPRF now that the basic mechanism has become known. Cell stress causes an increased production of free radicals, disturbing the redox equilibrium, causing oxidative stress (OS) either directly or secondarily by other types of stress. Eventually, OS causes inflammation and an increased sympathetic (nervous) system activity. In the acute form, this leads to immune paralysis; in the chronic form, to immune tolerance and chronic inflammation. It is hypothesized that RedoxPRF causes a reduction of free radicals by a recombination of radical pairs. For systemic application, the target cells are the intravascular immune cells that pass through an activated area as on an assembly line. Hypothesis conclusions: 1. RedoxPRF treatment works selectively on OS. It has the unique position of having a point of engagement at the most upstream level of the train of events. 2. RedoxPRF has the potential of being a useful tool in the treatment of inflammatory diseases and possibly of stage 4 cancer. 3. In the treatment of chronic pain, RedoxPRF is an entirely new method because it is different from ablation as well as from stimulation. We propose the term “functional restoration”. 4. Controlled studies must be conducted to develop this promising new field in medicine further. Full article

(This article belongs to the Section Immunology and Infectious Diseases)

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8 pages, 764 KiB

Open AccessCase Report

Concurrence of Adenomyoepithelioma of the Breast and Gastrointestinal Stromal Tumor of the Stomach: A Case Report and Review of the Literature

by Fatma Althoubaity, Lamar A. Wazira, Hanin M. Y. Ahmad and Reyof T. Aljuhani

Med. Sci. 2023, 11(3), 57; https://doi.org/10.3390/medsci11030057 - 10 Sep 2023

Viewed by 1792

Abstract

Adenomyoepithelioma (AME) of the breast and gastrointestinal stromal tumors (GISTs) are rare benign (primarily) tumors observed in the breast and gastrointestinal tract, respectively. The coexistence of both of these rare tumors is extremely rare; therefore, the author describes the clinical presentation and pathophysiological [...] Read more.

Adenomyoepithelioma (AME) of the breast and gastrointestinal stromal tumors (GISTs) are rare benign (primarily) tumors observed in the breast and gastrointestinal tract, respectively. The coexistence of both of these rare tumors is extremely rare; therefore, the author describes the clinical presentation and pathophysiological findings of such a unique case in this study. A 56-year-old female patient with no medical history presented with a substantial right breast lump, severe nausea, and vomiting, and suffered from iron deficiency anemia. Radiological observation and a right breast excisional biopsy diagnosed the patient with AME associated with ductal carcinoma in situ (DCIS). Endoscopy and a CT scan of the stomach revealed the existence of GIST. This is the first reported case of concurrence of a huge mass of AME and GIST in a patient. Histological and immunohistochemistry tests using p63, SMA, calponin, and Ki67 markers for the breast tumor and DOG-1, CD34, and CD117 markers for the gastric tumor revealed the non-invasive benign state. The patient had a right breast mastectomy with a negative resection margin. AME of the breast and GIST pose diagnostic challenges due to their erratic morphological characteristics and can cause misinterpretation drawn solely from radiological tests. Effective and accurate diagnostics require assessing the histological and immunohistochemistry findings of the tumor to identify the invasiveness of the neoplasm and the associated risk levels. This report, thus, creates awareness among clinicians and pathologists for the consideration of such possibilities and, therefore, conducts the necessary diagnostics and prophylactic treatments. Full article

(This article belongs to the Topic Advances in Tumor Microenvironment)

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11 pages, 1061 KiB

Open AccessArticle

Effects of Two Exercise Programs on Neck Proprioception in Patients with Chronic Neck Pain: A Preliminary Randomized Clinical Trial

by Leila Rahnama, Manizheh Saberi, Pegah Kashfi, Mahsa Rahnama, Noureddin Karimi and Mark D. Geil

Med. Sci. 2023, 11(3), 56; https://doi.org/10.3390/medsci11030056 - 08 Sep 2023

Viewed by 2226

Abstract

Background: The purpose of this study was to compare the effects of specific neck muscle training and general neck-shoulder exercises on neck proprioception, pain, and disability in patients with chronic non-specific neck pain. Methods: Twenty-five patients with chronic non-specific neck pain were recruited [...] Read more.

Background: The purpose of this study was to compare the effects of specific neck muscle training and general neck-shoulder exercises on neck proprioception, pain, and disability in patients with chronic non-specific neck pain. Methods: Twenty-five patients with chronic non-specific neck pain were recruited into this preliminary single-blinded randomized clinical trial. They were randomly assigned to either a specific neck exercise (n = 13, mean aged 24 years) or a general neck exercise group (n = 12, mean aged 25 years). Specific neck exercises included eye-head coordination and isometric deep neck muscle exercises. General neck exercises included neck and shoulder free range of motion and shoulder shrug. Pain, disability, and neck proprioception, which was determined using the joint repositioning error, were measured at baseline and after eight weeks of training in both groups. Results: Both training groups showed significant improvements in joint repositioning error (p < 0.001, F = 24.144, ES = 0.8), pain (p < 0.001, F = 61.118, ES = 0.31), and disability (p = 0.015, F = 6.937, ES = 0.60). However, the specific neck exercise group showed larger variability in joint repositioning error (p = 0.006, F = 0.20, F critical = 0.36). Conclusions: Either specific neck exercise or a general neck-shoulder range of motion exercise could be effective in improving neck proprioception. Therefore, exercises could be recommended based on patient comfort and patients’ specific limitations. Full article

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11 pages, 1058 KiB

Open AccessArticle

Melatonin Use in Pediatric Intensive Care Units: A Single-Center Experience

by Jessica L. Jacobson, Joanna Tylka, Savannah Glazer, Yanyu Zhang, Rosario Cosme, Jean M. Silvestri and Pallavi P. Patwari

Med. Sci. 2023, 11(3), 55; https://doi.org/10.3390/medsci11030055 - 28 Aug 2023

Viewed by 2268

Abstract

Growing evidence indicates that altered melatonin secretion during critical illness may influence the quality and quantity of sleep, delirium, and overall recovery. However, limited data exist regarding the use of melatonin in pediatric critical illness. Data were reviewed over a 5-year period at [...] Read more.

Growing evidence indicates that altered melatonin secretion during critical illness may influence the quality and quantity of sleep, delirium, and overall recovery. However, limited data exist regarding the use of melatonin in pediatric critical illness. Data were reviewed over a 5-year period at a tertiary pediatric intensive care unit for pediatric patients (ages 0–18 years) who were prescribed melatonin with the aim of identifying the frequency of and indications for use. Data collection included the hospital day of initiation, the dose, the frequency, the duration of use, and the length of stay. The results demonstrate that melatonin was infrequently prescribed (6.0% of patients admitted; n = 182) and that the majority of patients received melatonin as continuation of home medication (46%; n = 83 of 182). This group had significantly earlier melatonin use (0.9 ± 2.3 day of hospitalization; p < 0.0001) and significantly reduced lengths of stay compared to the other groups (mean LOS 7.2 ± 9.3 days; p < 0.0001). Frequently, clear documentation of indication for melatonin use was absent (20%; n = 37). In conclusion, given that melatonin is infrequently used within a tertiary PICU with the most common indication as the continuation of home medication, and often without clear documentation for indication, this presents an opportunity to emphasize a more attentive and strategic approach regarding melatonin use in the PICU population. Full article

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12 pages, 255 KiB

Open AccessArticle

Outcomes of Patients with Gastrointestinal Stromal Tumors in the Past Decade

by Ayrton Bangolo, Pierre Fwelo, Tha’er Al-Qatish, John Bukasa-Kakamba, Tiffany Lee, Akira G. Cayago, Sarah Potiguara, Vignesh K. Nagesh, Jessica Kawall, Rashid Ahmed, Muhammad Asjad Abbas, Narissa Nursjamsi, Stacy H. Lee, Shagi Meti, Georgemar V. Arana, Chrishanti A. Joseph, Abdifitah Mohamed, Arthur Alencar, Huzaifa G. Hassan, Pramanu Aryal, Aleena Javed, Maksim Kalinin, Gbenga Lawal, Ibtihal Y. Khalaf, Midhun Mathew, Praveena Karamthoti, Bhavna Gupta and Simcha Weissman Show full author list Hide full author list

Med. Sci. 2023, 11(3), 54; https://doi.org/10.3390/medsci11030054 - 28 Aug 2023

Viewed by 1774

Abstract

Background: Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the gastrointestinal tract (GIT) that represent approximately 1 to 2 percent of primary gastrointestinal (GI) cancers. Owing to their rarity, very little is known about their overall epidemiology, and the prognostic factors of [...] Read more.

Background: Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms of the gastrointestinal tract (GIT) that represent approximately 1 to 2 percent of primary gastrointestinal (GI) cancers. Owing to their rarity, very little is known about their overall epidemiology, and the prognostic factors of their pathology. The current study aimed to evaluate the independent determinants of mortality in patients diagnosed with GISTs over the past decade. Methods: Our study comprised 2374 patients diagnosed with GISTs from 2000 to 2017 from the Surveillance, Epidemiology, and End Results (SEER) database. We analyzed the baseline characteristics, and overall mortality (OM), as well as the cancer-specific mortality (CSM) of GISTs. Variables with a p value < 0.01 in the univariate Cox regression were incorporated into the multivariate Cox model, to determine the independent prognostic factors. Results: Multivariate Cox proportional hazard regression analyses of factors affecting the all-cause mortality and GIST-related mortality among US patients between 2010 and 2017 revealed a higher overall mortality in non-Hispanic Black patients (HR = 1.516, 95% CI 1.172–1.961, p = 0.002), patients aged 80+ (HR = 9.783, 95% CI 4.185–22.868, p = 0), followed by those aged 60–79 (HR = 3.408, 95% CI 1.488–7.807, p = 0.004); male patients (HR = 1.795, 95% CI 1.461–2.206, p < 0.001); patients with advanced disease with distant metastasis (HR = 3.865, 95% CI 2.977–5.019, p < 0.001), followed by cases with regional involvement via both direct extension and lymph node involvement (HR = 3.853, 95% CI 1.551–9.57, p = 0.004); and widowed patients (HR = 1.975, 95% CI 1.494–2.61, p < 0.001), followed by single patients (HR = 1.53, 95% CI 1.154–2.028, p = 0.003). The highest CSM was observed in the same groups, except widowed patients and patients aged 60–79. The highest CSM was also observed among patients that underwent chemotherapy (HR = 1.687, 95% CI 1.19–2.392, p = 0.003). Conclusion: In this updated study on the outcomes of patients with GISTs, we found that non-Hispanic Black patients, male patients, and patients older than 60 years have a higher mortality with GISTs. Furthermore, patients who have received chemotherapy have a higher GIST-specific mortality, and married patients have a lower mortality. However, we do not know to what extent these independent prognostic factors interact with each other to influence mortality. This study paves the way for future studies addressing these interactions. The results of this study may help treating clinicians to identify patient populations associated with a dismal prognosis, as those may require closer follow-up and more intensive therapy; furthermore, with married patients having a better survival rate, we hope to encourage clinicians to involve family members of the affected patients early in the disease course, as the social support might impact the prognosis. Full article

3 pages, 166 KiB

Open AccessEditorial

Editorial to the Special Issue on “Polyamine Metabolism in Health and Disease: Potential for Polyamine-Targeted Therapies and Prevention”

by Tracy Murray Stewart

Med. Sci. 2023, 11(3), 53; https://doi.org/10.3390/medsci11030053 - 19 Aug 2023

Viewed by 870

Abstract

To introduce this Special Issue, I refer the reader to the timely review by Zahedi and colleagues [...] Full article

(This article belongs to the Special Issue Polyamine Metabolism in Disease and Polyamine-Targeted Therapies)

9 pages, 2570 KiB

Open AccessCase Report

Recurrent Multidrug-Resistant Clostridium difficile Infection Secondary to Ulcerative Colitis a Case Report

by Arturo P. Jaramillo, Javier Castells, Sabina Ibrahimli and Steven Siegel

Med. Sci. 2023, 11(3), 52; https://doi.org/10.3390/medsci11030052 - 16 Aug 2023

Viewed by 1729

Abstract

IBD consists of two diseases—CD and UC—that affect the digestive tract, with a greater affinity for the large bowel. In this case report, we focus on one of its most common complications. CDI is a pathology that is mostly secondary to UC. Another [...] Read more.

IBD consists of two diseases—CD and UC—that affect the digestive tract, with a greater affinity for the large bowel. In this case report, we focus on one of its most common complications. CDI is a pathology that is mostly secondary to UC. Another cause of this bacterial infection is established after the use of antibiotics, most commonly at the hospital level. Around 20 percent of CDI persists because of a chronic dysbiosis of the microbiota and low levels of antibodies against CD toxins. In this case report, we demonstrated mdCDI in a young woman after treatment with multiple drug therapies as well as with semi-invasive procedures as follows: antibiotics (vancomycin, fidaxomicin), anti-inflammatory agents (mesalamine, sulfasalazine), corticosteroids (budesonide, prednisone), integrin receptor antagonists (vedolizumab), several semi-invasive procedures such as fecal transplant microbiota (FMT), aminosalicylates (5-ASA), treatment with tumor necrosis factor (TNF) blockers (adalimumab, golimumab), and immunomodulators (upadcitinib, tofacitinib). This leads us to establish how rCDI and its resistance to different treatments make this a challenge for the health system, both for hospitals and for outpatients, as well as how time-consuming each treatment is from the first intake of the drug until its total efficacy or until patients reach a dose-response and time-response to the disease. Accordingly, this case report and other similar cases reflect the need for randomized control trials or meta-analyses to establish therapeutic guidelines for cases of mdCDI in the near future. Full article

(This article belongs to the Special Issue Pathogenesis and Treatment of Inflammatory Bowel Diseases)

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12 pages, 301 KiB

Open AccessReview

Overview of Ankle Arthropathy in Hereditary Hemochromatosis

by Sara Calori, Chiara Comisi, Antonio Mascio, Camillo Fulchignoni, Elisabetta Pataia, Giulio Maccauro, Tommaso Greco and Carlo Perisano

Med. Sci. 2023, 11(3), 51; https://doi.org/10.3390/medsci11030051 - 15 Aug 2023

Cited by 3 | Viewed by 1451

Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and [...] Read more.

Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and mainly involves the metacarpophalangeal and ankle joints, and more rarely, the hip and knee. Symptoms in ankle joints are in most cases non-specific, and they can range from pain and swelling of the ankle to deformities and joint destruction. Furthermore, the main radiological signs do not differ from those of primary osteoarthritis (OA). Limited data are available in the literature regarding treatment; surgery seems to be the gold standard for ankle arthropathy in HH. Pharmacological treatments used to maintain iron homeostasis can also be undertaken to prevent the arthropathy, but conclusive data are not yet available. This review aimed to assess the ankle arthropathy in the context of HH, including all its aspects: epidemiology, physiopathology, clinical and imaging presentation, and all the treatments available to the current state of knowledge. Full article

12 pages, 596 KiB

Open AccessReview

Review of the Case Reports on Metformin, Sulfonylurea, and Thiazolidinedione Therapies in Type 2 Diabetes Mellitus Patients

by Elis Susilawati, Jutti Levita, Yasmiwar Susilawati and Sri Adi Sumiwi

Med. Sci. 2023, 11(3), 50; https://doi.org/10.3390/medsci11030050 - 15 Aug 2023

Cited by 5 | Viewed by 2869

Abstract

Type 2 diabetes mellitus (T2DM) is the world’s most common metabolic disease. The development of T2DM is mainly caused by a combination of two factors: the failure of insulin secretion by the pancreatic β-cells and the inability of insulin-sensitive tissues to respond to [...] Read more.

Type 2 diabetes mellitus (T2DM) is the world’s most common metabolic disease. The development of T2DM is mainly caused by a combination of two factors: the failure of insulin secretion by the pancreatic β-cells and the inability of insulin-sensitive tissues to respond to insulin (insulin resistance); therefore, the disease is indicated by a chronic increase in blood glucose. T2DM patients can be treated with mono- or combined therapy using oral antidiabetic drugs and insulin-replaced agents; however, the medication often leads to various discomforts, such as abdominal pain, diarrhea or constipation, nausea and vomiting, and hypersensitivity reactions. A biguanide drug, metformin, has been used as a first-line drug to reduce blood sugar levels. Sulfonylureas work by blocking the ATP-sensitive potassium channel, directly inducing the release of insulin from pancreatic β-cells and thus decreasing blood glucose concentrations. However, the risk of the failure of sulfonylurea as a monotherapy agent is greater than that of metformin or rosiglitazone (a thiazolidinedione drug). Sulfonylureas are used as the first-line drug of choice for DM patients who cannot tolerate metformin therapy. Other antidiabetic drugs, thiazolidinediones, work by activating the peroxisome proliferator-activated receptor gamma (PPARγ), decreasing the IR level, and increasing the response of β-cells towards the glucose level. However, thiazolidines may increase the risk of cardiovascular disease, weight gain, water retention, and edema. This review article aims to discuss case reports on the use of metformin, sulfonylureas, and thiazolidinediones in DM patients. The literature search was conducted on the PubMed database using the keywords ‘metformin OR sulfonylureas OR thiazolidinediones AND case reports’, filtered to ‘free full text’, ‘case reports’, and ‘10 years publication date’. In some patients, metformin may affect sleep quality and, in rare cases, leads to the occurrence of lactate acidosis; thus, patients taking this drug should be monitored for their kidney status, plasma pH, and plasma metformin level. Sulfonylureas and TZDs may cause a higher risk of hypoglycemia and weight gain or edema due to fluid retention. TZDs may be associated with risks of cardiovascular events in patients with concomitant T2DM and chronic obstructive pulmonary disease. Therefore, patients taking these drugs should be closely monitored for adverse effects. Full article

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23 pages, 1894 KiB

Open AccessReview

Venous Thromboembolism Prophylaxis in Major Orthopedic Surgeries and Factor XIa Inhibitors

by Aaryana Jones and Rami A. Al-Horani

Med. Sci. 2023, 11(3), 49; https://doi.org/10.3390/medsci11030049 - 11 Aug 2023

Cited by 3 | Viewed by 2943

Abstract

Venous thromboembolism (VTE), comprising pulmonary embolism (PE) and deep vein thrombosis (DVT), poses a significant risk during and after hospitalization, particularly for surgical patients. Among various patient groups, those undergoing major orthopedic surgeries are considered to have a higher susceptibility to PE and [...] Read more.

Venous thromboembolism (VTE), comprising pulmonary embolism (PE) and deep vein thrombosis (DVT), poses a significant risk during and after hospitalization, particularly for surgical patients. Among various patient groups, those undergoing major orthopedic surgeries are considered to have a higher susceptibility to PE and DVT. Major lower-extremity orthopedic procedures carry a higher risk of symptomatic VTE compared to most other surgeries, with an estimated incidence of ~4%. The greatest risk period occurs within the first 7–14 days following surgery. Major bleeding is also more prevalent in these surgeries compared to others, with rates estimated between 2% and 4%. For patients undergoing major lower-extremity orthopedic surgery who have a low bleeding risk, it is recommended to use pharmacological thromboprophylaxis with or without mechanical devices. The choice of the initial agent depends on the specific surgery and patient comorbidities. First-line options include low-molecular-weight heparins (LMWHs), direct oral anticoagulants, and aspirin. Second-line options consist of unfractionated heparin (UFH), fondaparinux, and warfarin. For most patients undergoing knee or hip arthroplasty, the initial agents recommended for the early perioperative period are LMWHs (enoxaparin or dalteparin) or direct oral anticoagulants (rivaroxaban or apixaban). In the case of hip fracture surgery, LMWH is recommended as the preferred agent for the entire duration of prophylaxis. However, emerging factor XI(a) inhibitors, as revealed by a recent meta-analysis, have shown a substantial decrease in the occurrence of VTE and bleeding events among patients undergoing major orthopedic surgery. This discovery poses a challenge to the existing paradigm of anticoagulant therapy in this specific patient population and indicates that factor XI(a) inhibitors hold great promise as a potential strategy to be taken into serious consideration. Full article

(This article belongs to the Special Issue 10th Anniversary of Medical Sciences — Advances in Basic, Translational and Clinical Research)

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9 pages, 983 KiB

Open AccessArticle

Effectiveness of Two Transcutaneous Electrical Nerve Stimulation (TENS) Protocols in Women with Provoked Vestibulodynia: A Randomized Controlled Trial

by Filippo Murina, Dario Recalcati, Stefania Di Francesco and Irene Cetin

Med. Sci. 2023, 11(3), 48; https://doi.org/10.3390/medsci11030048 - 02 Aug 2023

Viewed by 1608

Abstract

Background: Vestibulodynia (VBD) is the most common form of vulvodynia. Because VBD is a pain disorder, transcutaneous electrical nerve stimulation (TENS) can be used as treatment. This study aims to evaluate the effects of two-parameter combinations (frequency and pulse duration) of TENS in [...] Read more.

Background: Vestibulodynia (VBD) is the most common form of vulvodynia. Because VBD is a pain disorder, transcutaneous electrical nerve stimulation (TENS) can be used as treatment. This study aims to evaluate the effects of two-parameter combinations (frequency and pulse duration) of TENS in reducing pain intensity and dyspareunia in VBD. Methods: A randomized, double-blind, controlled trial was conducted to study the effect of two different electrical stimulation treatment regimens on women with VBD receiving domiciliary TENS. Outcomes were the mean change from baseline at 60 and 120 days of burning/pain and dyspareunia (VAS), Vulvar Pain Functional Questionnaire (V-Q), Female Sexual Functioning Index (FSFI) and vaginal electromyography measurements. Results: A total of 78 subjects, 39 in each group, completed the trial. Patients in Groups 1 and 2 received a mean of 46.9 and 48.4 TENS sessions. By day 120, there was a 38.2% reduction in the burning/pain and a 52.1% reduction in the dyspareunia VAS scores in Group 1, as compared to 21.3% (p = 0.003) and 23.1% in Group 2 (p = 0.01), respectively. FSFI, V-Q, and muscle-strength measures also improved but were not statistically significant. Conclusions: Our findings showed the potential of TENS in the treatment of VBD. Full article

(This article belongs to the Section Gynecology)

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8 pages, 238 KiB

Open AccessReview

Nutritional Management of Idiopathic Nephrotic Syndrome in Pediatric Age

by Graziana Lella, Luca Pecoraro, Elisa Benetti, Olivia Chapin Arnone, Giorgio Piacentini, Milena Brugnara and Angelo Pietrobelli

Med. Sci. 2023, 11(3), 47; https://doi.org/10.3390/medsci11030047 - 28 Jul 2023

Viewed by 2341

Abstract

Nephrotic syndrome (NS) is a common pediatric disease characterized by a dysfunction in the glomerular filtration barrier that leads to protein, fluid, and nutrient loss in urine. Corticosteroid therapy is the conventional treatment in children. Long-term complications of NS and prolonged exposure to [...] Read more.

Nephrotic syndrome (NS) is a common pediatric disease characterized by a dysfunction in the glomerular filtration barrier that leads to protein, fluid, and nutrient loss in urine. Corticosteroid therapy is the conventional treatment in children. Long-term complications of NS and prolonged exposure to steroids affect bones, growth, and the cardiovascular system. Diet can play an important role in preventing these complications, but there is a scarcity of scientific literature about nutritional recommendations for children with NS. They need individualized nutrition choices not only during the acute phase of the disease but also during remission to prevent the progression of kidney damage. The correct management of diet in these children requires a multidisciplinary approach that involves family pediatricians, pediatric nephrologists, dietitians, and parents. Full article

11 pages, 280 KiB

Open AccessReview

Selective HIF2A Inhibitors in the Management of Clear Cell Renal Cancer and Von Hippel–Lindau-Disease-Associated Tumors

by Cristina Suárez, Maria Vieito, Augusto Valdivia, Macarena González and Joan Carles

Med. Sci. 2023, 11(3), 46; https://doi.org/10.3390/medsci11030046 - 30 Jun 2023

Cited by 4 | Viewed by 2425

Abstract

Von Hippel–Lindau (VHL) loss is the hallmark event characterizing the clear cell renal cancer subtype (ccRCC). Carriers of germinal VHL mutations have an increased prevalence of kidney cysts and ccRCC as well as hemangioblastoma, pheochromocytoma and pancreatic neuroendocrine tumors. In both sporadic and [...] Read more.

Von Hippel–Lindau (VHL) loss is the hallmark event characterizing the clear cell renal cancer subtype (ccRCC). Carriers of germinal VHL mutations have an increased prevalence of kidney cysts and ccRCC as well as hemangioblastoma, pheochromocytoma and pancreatic neuroendocrine tumors. In both sporadic and inherited ccRCC, the primary mechanism of VHL-mediated carcinogenesis is the abnormal stabilization of hypoxia-inducible factors (HIF1A and HIF2A). While HIF1A acts as a tumor suppressor and is frequently lost through inactivating mutations/14q chromosome deletions, HIF2A acts as an oncogene promoting the expression of its target genes (VEGF, PDGF, CAIX Oct4, among others). Selective HIF2a inhibitors block the heterodimerization between HIF2A and ARNT, stopping HIF2A-induced transcription. Several HIF2A inhibitors have entered clinical trials, where they have shown a favorable toxicity profile, characterized by anemia, fatigue and edema and promising activity in heavily pretreated ccRCC patients. Belzutifan, a second-generation HIF2a inhibitor, was the first to receive FDA approval for the treatment of unresectable ccRCC in VHL syndrome. In this review, we recapitulate the rationale for HIF2a blockade in ccRCC, summarize the development of HIF2a inhibitors from preclinical models up to its introduction to the clinic with emphasis on Belzutifan, and discuss their role in VHL disease management. Full article

10 pages, 541 KiB

Open AccessArticle

A Pilot Test of the Measures of the Greek Version of Upper Extremity Functional Index in Patients with Lateral Elbow Tendinopathy

by Eleftherios Paraskevopoulos, George Plakoutsis and Maria Papandreou

Med. Sci. 2023, 11(3), 45; https://doi.org/10.3390/medsci11030045 - 28 Jun 2023

Cited by 1 | Viewed by 964

Abstract

Lateral elbow tendinopathy (LET) is a common upper limb pathology in people involved in manual occupations. The upper extremity functional index (UEFI) was specifically designed to evaluate functional limitations in patients with upper limb pathology. The UEFI was developed in English and has [...] Read more.

Lateral elbow tendinopathy (LET) is a common upper limb pathology in people involved in manual occupations. The upper extremity functional index (UEFI) was specifically designed to evaluate functional limitations in patients with upper limb pathology. The UEFI was developed in English and has been translated into several languages, including Greek. However, it has been assessed only in patients with shoulder pathology. Thus, the aim of this study was to pilot-test the Greek version of the UEFI (GV-UEFI) questionnaire and assess its measurement properties in patients with LET. Thirty patients with LET were recruited and asked to fill in the GV-UEFI twice and the disabilities of arm, shoulder, and hand questionnaire (DASH) once. The internal consistency and test–retest reliability were examined using Cronbach’s alpha and the intraclass correlation coefficient (ICC). The standard error of measurement (SEM) and the minimum detectable change (MDC) were calculated and possible ground or ceiling effects were also examined. Convergent validity was evaluated with the Greek DASH using Pearson’s correlation. Lastly, the unidimensionality of the scale was examined through principal component analysis to verify construct validity. Internal consistency was high for the GV-UEFI (Cronbach’s a = 0.98) and test–retest reliability was excellent (ICC = 0.98). The SEM was 2.95 and the MDC was 6.85. Test–retest reliability of each item was good (ICC > 0.87). The correlation analysis demonstrated a strong correlation between the GV-UEFI and the DASH. No floor or ceiling effects were found. Principal component analysis verified the construct validity and the unidimensionality of the scale. The GV-UEFI was successfully tested in patients with LET. It seems that the GV-UEFI can be used reliably in Greek-speaking patients with LET. However, the measurement properties of this scale should be examined in a larger sample of LET patients. Full article

(This article belongs to the Section Neurosciences)

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24 pages, 1799 KiB

Open AccessArticle

Multi-Omics Data Analysis Identifies Prognostic Biomarkers across Cancers

by Ezgi Demir Karaman and Zerrin Işık

Med. Sci. 2023, 11(3), 44; https://doi.org/10.3390/medsci11030044 - 27 Jun 2023

Cited by 3 | Viewed by 2507

Abstract

Combining omics data from different layers using integrative methods provides a better understanding of the biology of a complex disease such as cancer. The discovery of biomarkers related to cancer development or prognosis helps to find more effective treatment options. This study integrates [...] Read more.

Combining omics data from different layers using integrative methods provides a better understanding of the biology of a complex disease such as cancer. The discovery of biomarkers related to cancer development or prognosis helps to find more effective treatment options. This study integrates multi-omics data of different cancer types with a network-based approach to explore common gene modules among different tumors by running community detection methods on the integrated network. The common modules were evaluated by several biological metrics adapted to cancer. Then, a new prognostic scoring method was developed by weighting mRNA expression, methylation, and mutation status of genes. The survival analysis pointed out statistically significant results for GNG11, CBX2, CDKN3, ARHGEF10, CLN8, SEC61G and PTDSS1 genes. The literature search reveals that the identified biomarkers are associated with the same or different types of cancers. Our method does not only identify known cancer-specific biomarker genes, but also proposes new potential biomarkers. Thus, this study provides a rationale for identifying new gene targets and expanding treatment options across cancer types. Full article

(This article belongs to the Section Cancer and Cancer-Related Research)

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Med. Sci., Volume 11, Issue 3 (September 2023) – 19 articles

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