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Diagnostics
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Pediatric Liver Diseases
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Special Issue "Pediatric Liver Diseases"

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 31671

Special Issue Editors

Prof. Dr. Susan M. Gilmour
E-Mail Website
Guest Editor
University of Alberta, Edmonton, AB, Canada
Interests: pediatric liver diseases
Prof. Dr. Consolato M. Sergi

E-Mail Website
Guest Editor
Department of Pathology and Laboratory Medicine, University of Ottawa, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada
Interests: gastrointestinal/biliary diseases; metabolic diseases; congenital heart disease; mitochondrial DNA-related cardiomyopathies; carcinogenesis (bone/liver)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pediatric hepatology has expanded in the last couple of decades as the amount of information of genetics, developmental biology, and metabolic studies has increased exponentially. This new Special Issue focusing on pediatric liver diseases has the intent to conglomerate research and review articles on several fields of the developing and damaged liver. The influence of the environment on liver diseases has grabbed our attention because of climate change but also because of the number of toxins that a child may be exposed to in developed and underdeveloped countries. The perspective of new clinical trials for autoimmune hepatitis and infectious liver diseases will be also part of this Special Issue. A section will also be reserved for imaging diagnostics. Digital images through a multitude of social media platforms and the introduction of new algorithms in artificial intelligence will help to efficiently and effectively implement new platforms of electronic medical records and approaches to personalized medicine.

Prof. Susan M. Gilmour
Prof. Consolato M. Sergi
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • liver
  • metabolism
  • cholangiopathy
  • cholestasis
  • radiology
  • pathology
  • therapy

Published Papers (7 papers)

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Editorial

Jump to: Research, Review, Other

3 pages, 179 KiB  
Editorial
Acute Hepatitis of Unknown Origin (AHUO)—The Puzzle Ahead
by
Consolato M. Sergi
Diagnostics 2022, 12(5), 1215; https://doi.org/10.3390/diagnostics12051215 - 12 May 2022
Cited by 3 | Viewed by 4108
Abstract
An intriguing form of hepatitis has been detected in more than a hundred children worldwide [...] Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)

Research

Jump to: Editorial, Review, Other

9 pages, 1191 KiB  
Article
Health-Related Quality of Life 10 Years after Liver Transplantation: A Longitudinal Retrospective Review
by
Amber Hager
,
Diana Mager
,
Cheri Robert
,
David Nicholas
and
Susan Gilmour
Diagnostics 2021, 11(1), 111; https://doi.org/10.3390/diagnostics11010111 - 12 Jan 2021
Cited by 4 | Viewed by 1796
Abstract
As survival post-liver transplantation (LTx) improves, it becomes increasingly important to understand how long-term health-related quality of life (HRQOL) is impacted. This was a longitudinal review examining HRQOL measured by Pediatric Liver Transplant Quality of Life (PeLTQL) in children between 8-17 years who [...] Read more.
As survival post-liver transplantation (LTx) improves, it becomes increasingly important to understand how long-term health-related quality of life (HRQOL) is impacted. This was a longitudinal review examining HRQOL measured by Pediatric Liver Transplant Quality of Life (PeLTQL) in children between 8-17 years who underwent LTx (1.4 [0.8–3.3] years) at least one year prior to assessment. Demographic, medical, anthropometric, and HRQOL data (self-reported and parent proxy) were retrospectively collected over four years (2014–2017) at annual LTx clinic visits. The study included 35 patients (18M, 17F) and their parents/guardians. Parent-proxy and child PeLTQL scores (total, subdomain) showed good to excellent agreement (p > 0.05) and did not change over four years (p > 0.05). Younger age (<12 years) and Caucasian ancestry were associated with higher parental and self-reported perceptions of HRQOL, respectively (future health, coping and adjustment, total scores). Parent perceived lower HRQOL in social–emotional sub-domain (p = 0.03) and the child reported lower sub-domain scores related to coping and adjustment (p = 0.04) when the child was noted to have co-morbid conditions related to mental health and neurocognitive development (25.7%). While child–parent perceptions of HRQOL in a multi-ethnic population of pediatric LTx recipients remain unchanged 10 years post-LTx, adolescents of non-Caucasian ancestry remain a population at risk for lower HRQOL. Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)
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Review

Jump to: Editorial, Research, Other

13 pages, 1963 KiB  
Review
Pediatric Echinococcosis of the Liver in Austria: Clinical and Therapeutical Considerations
by
Josef Hager
and
Consolato M. Sergi
Diagnostics 2023, 13(7), 1343; https://doi.org/10.3390/diagnostics13071343 - 04 Apr 2023
Viewed by 1274
Abstract
Echinococcosis is considered a neglected disease in most European countries. However, migratory flows of populations, long-term stays in endemic areas, uninterrupted tourism (travel to Echinococcus-endemic countries), traveling dogs and dog translocations from endemic areas, and inappropriate hygiene practices are potential factors that [...] Read more.
Echinococcosis is considered a neglected disease in most European countries. However, migratory flows of populations, long-term stays in endemic areas, uninterrupted tourism (travel to Echinococcus-endemic countries), traveling dogs and dog translocations from endemic areas, and inappropriate hygiene practices are potential factors that alarm public health officials. Identifying a cyst-like mass in the liver or lung of an individual with a travel history of likely exposure to sheepdogs in an area where the parasite Echinococcus (E.) granulosus (sive cysticus) is endemic advocates for a prompt preliminary diagnosis of cystic echinococcosis (CE), no matter the age of the affected individuals. Routine imaging techniques, including ultrasonography, computed tomography (CT) scans, and magnetic resonance imaging (MRI) scans, are used to detect cysts. After a cyst has been discovered, serologic investigations are used to confirm the diagnosis. Typically, alveolar echinococcosis (AE) is found in older individuals. Yet young people are also affected because frequent oral exploration of the environment is a regular behavior for infants and toddlers. In this review, therapeutic considerations for pediatric echinococcosis—drug-based benzimidazole therapy; AE: atypical liver resection, the resection of individual or multiple segments, a right or left hemi-hepatectomy, or an extended hemi-hepatectomy; CE: PAIR-technique, cyst excision, liver segment(s) resection (laparoscopically or conventionally)—are revised following experience in one of the most affected regions of Europe. In addition, we performed a systematic review using three databases (i.e., PubMed, EMBASE, and Scopus) to evaluate the quality of evidence in published studies on pediatric echinococcosis. Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)
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13 pages, 1954 KiB  
Review
Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis
by
Consolato M. Sergi
and
Susan Gilmour
Diagnostics 2022, 12(2), 330; https://doi.org/10.3390/diagnostics12020330 - 27 Jan 2022
Cited by 3 | Viewed by 3559
Abstract
The diagnosis of biliary atresia is still terrifying at the 3rd decade of the 21st century. In a department of neonatal intensive care unit, parents and physicians face a challenge with a jaundiced baby, who may or may not have a surgically correctable [...] Read more.
The diagnosis of biliary atresia is still terrifying at the 3rd decade of the 21st century. In a department of neonatal intensive care unit, parents and physicians face a challenge with a jaundiced baby, who may or may not have a surgically correctable hepatopathy. The approach has been systematically evaluated, but the etiology remains ambiguous. The study of families with recurrent biliary atresia has been undertaken at a molecular level. The primary interest with this disease is to identify the etiology and change the treatment from symptomatic to curative. The occurrence of this obstructive cholangio-hepatopathy in well-known genetic syndromes has suggested just coincidental finding, but the reality can be more intriguing because some of these diseases may have some interaction with the development of the intrahepatic biliary system. Several genes have been investigated thoroughly, including ADD3 and GPC1 shifting the interest from viruses to genetics. In this review, the intriguing complexities of this hepatobiliary disease are highlighted. Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)
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30 pages, 7348 KiB  
Review
Pediatric Primary Hepatic Tumors: Diagnostic Considerations
by
Bryony Lucas
,
Sanjita Ravishankar
and
Irina Pateva
Diagnostics 2021, 11(2), 333; https://doi.org/10.3390/diagnostics11020333 - 18 Feb 2021
Cited by 16 | Viewed by 7634
Abstract
The liver is the third most common site of abdominal tumors in children. This review article aims to summarize current evidence surrounding identification and diagnosis of primary hepatic tumors in the pediatric population based upon clinical presentation, epidemiology, and risk factors as well [...] Read more.
The liver is the third most common site of abdominal tumors in children. This review article aims to summarize current evidence surrounding identification and diagnosis of primary hepatic tumors in the pediatric population based upon clinical presentation, epidemiology, and risk factors as well as classical imaging, histopathological, and molecular diagnostic findings. Readers will be able to recognize the features and distinguish between benign and malignant hepatic tumors within different age groups. Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)
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18 pages, 2978 KiB  
Review
Alagille Syndrome: Diagnostic Challenges and Advances in Management
by
Mohammed D. Ayoub
and
Binita M. Kamath
Diagnostics 2020, 10(11), 907; https://doi.org/10.3390/diagnostics10110907 - 06 Nov 2020
Cited by 25 | Viewed by 10572
Abstract
Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our [...] Read more.
Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our understanding of the molecular mechanisms underlying ALGS. However, the variable expressivity of the clinical phenotype and the lack of genotype-phenotype relationships creates significant diagnostic and therapeutic challenges. In this review, we provide a comprehensive overview of the clinical characteristics and management of ALGS, and the molecular basis of ALGS pathobiology. We further describe unique diagnostic considerations that pose challenges to clinicians and outline therapeutic concepts and treatment targets that may be available in the near future. Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)
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Other

9 pages, 1806 KiB  
Commentary
Pediatric Hepatic Angiosarcoma (PHAS) and Vinyl Chloride—A Ghost of the Past May Loom over East Palestine, OH, and beyond: A Critical Commentary
by
Consolato M. Sergi
Diagnostics 2023, 13(8), 1412; https://doi.org/10.3390/diagnostics13081412 - 14 Apr 2023
Cited by 1 | Viewed by 1261
Abstract
Road accidents are not infrequent everywhere in the world, but when they involve poisonous and dangerous chemical compounds, they represent a hazard and an issue for public health. In this commentary, we briefly review a recent East Palestine event and one of the [...] Read more.
Road accidents are not infrequent everywhere in the world, but when they involve poisonous and dangerous chemical compounds, they represent a hazard and an issue for public health. In this commentary, we briefly review a recent East Palestine event and one of the chemicals primarily involved with a predisposition to initiate a carcinogenetic process. The author reviewed, as a consultant, numerous chemical compounds for the International Agency for Research on Cancer, a trusted agency of the World Health Organization. Something is looming over the territories of East Palestine, Ohio, United States, draining water from the soil. We speculate that there is a dark and opprobrious fate for this area of the United States due to the potential increase in cases of pediatric hepatic angiosarcoma, which will also be revised in this commentary. Full article
(This article belongs to the Special Issue Pediatric Liver Diseases)
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