Hepatology Commons^™

Impact Of Genetic And Non-Genetic Factors On Phenotypic Diversity In Nbas-Associated Disease, Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier, Francois Feillet, Peter Freisinger, Maja Hempel, Anna L. Khoreva, Martin W. Laass, Yves Lacassie, Elke Lainka, Catherine Larson-Nath, Zhongdie Li, Patryk Lipiński, Eberhard Lurz, André Mégarbané, Susana Nobre, Giorgia Olivieri, Bianca Peters, Paolo Prontera, Lea D. Schlieben, Christine M. Seroogy, Cristina Sobacchi, Shigeru Suzuki, Christel Tran, Jerry Vockley

School of Medicine Faculty Publications

Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene; variants affecting the C-terminal region of NBAS result in SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), variants affecting the Sec 39 domain are associated with infantile liver failure syndrome type 2 (ILFS2) and variants affecting the ß-propeller domain give rise to a combined phenotype. However, there is still unexplained phenotypic diversity across the three subgroups, challenging the current concept of genotype-phenotype correlations in NBAS-associated disease. Therefore, besides examining the genetic …

A Case Report And A Review Of Pediatric Hepatoblastoma, Anthony D. Derenzi, Audrey Bowen

HCA Healthcare Journal of Medicine

Introduction

Hepatoblastoma is a rare pediatric cancer. Approximately 100 cases of hepatoblastoma are reported per year. Due to the limited incidence of this disorder an internationally agreed- upon criteria was developed to classify patients as standard or high-risk. Studies involving chemotherapeutic agents, surgery, and liver transplants have been demonstrated to improve the disease-free survival rate. The combination of chemotherapeutic agents and surgery demonstrated the ability of these regimens to downgrade the initial diagnostic staging of tumors and transform previously unresectable tumors into resectable tumors.

Case Presentation

The following case of hepatoblastoma presents a 4-year-old male who presented to the emergency …

Moving Through Loss: The Experience Of Ambiguous Loss With Hospitalized Children, The Development Of A Method, Peyton Edington

Expressive Therapies Capstone Theses

The current method examined the effects of ambiguous loss with medical transplant patients in a pediatric hospital by utilizing a dance/movement therapy intervention. The development of this method was based on ambiguous loss theory with a dance/movement therapy approach. The explored literature identified central themes of ambiguous loss, such as resilience. These themes were connected to the practice of dance/movement therapy, such as embodiment. With this connection, the intervention was developed and implemented with participants. The central themes that emerged from the intervention were change, loss, meaning-making, and hope. One child and two adolescents were participants in this intervention, and …

Biochemical Testing For The Diagnosis Of Wilson's Disease: A Systematic Review, Hafiz Muhammad Salman, Mahwish Amin, Javaria Syed, Zouina Sarfraz, Azza Sarfraz, Muzna Sarfraz, Maria Jose Farfán Bajaña, Miguel Felix, Ivan Cherrez-Ojeda

Department of Paediatrics and Child Health

Background: Wilson's disease (WD) is a rare inherited disorder that leads to copper accumulation in the liver, brain, and other organs. WD is prevalent worldwide, with an occurrence of 1 per 30,000 live births. Currently, there is no gold standard diagnostic test for WD. The objective of this systematic review is to determine the diagnostic accuracy for WD of three biochemical tests, namely hepatic copper, 24-hour urinary copper, and ceruloplasmin using the Leipzig criteria.
Methods: Adhering to PRISMA guidelines, databases including PubMed/MEDLINE, CINAHL Plus, Web of Science, and Cochrane were searched. Studies that comprised of confirmed or suspected WD along …

Post-Transplant Hepatic Graft Fibrosis In Pediatric Liver-Inclusive Transplant Recipients, Hanh D. Vo

Theses & Dissertations

Hepatic graft fibrosis is a common histologic finding following pediatric liver transplant (LT) that may affect the long-term graft outcome. Hence, it is essential to identify hepatic graft fibrosis at a stage where fibrosis is not yet clinically apparent but has the potential for progression to initiate appropriate intervention and prevent its progression. Liver biopsy is the gold standard for fibrosis staging, but it is invasive, requires general anesthesia in children, and has potential complications. Our long-term goal is to implement non-invasive tests to assess and monitor the progression of hepatic graft fibrosis in liver-inclusive transplant children. The work presented …

Classical Findings Of Infantile Hepatic Hemangiomas, Senayit Demie, Michael Bossak

HCA Healthcare Journal of Medicine

Introduction

Hemangiomas are benign vascular tumors that are common during infancy. They are most commonly noted as superficial bright red lesions on the skin but can also be found deeper as subcutaneous lesions. Patients with multifocal cutaneous hemangiomas are at risk of visceral involvement with the liver being most commonly affected. Most hemangiomas can be monitored clinically as they are self-limiting. Despite this, hepatic hemangiomas can have serious complications including large arteriovenous shunts leading to cardiac compromise as well as severe hepatomegaly which can cause abdominal compartment syndrome, impaired ventilation and renal vein compression.

Clinical Findings

A six-month-old female, born …

Luspatercept Diminishes The Need For Red Blood Cell Replacement In Transfusion-Dependent Β-Thalassemia Patients, Joudeh B. Freij

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising:

Cappellini MD, Viprakasit V, Taher AT, et al. A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia. N Engl J Med. 2020;382(13):1219-1231. https://doi.org/10.1056/NEJMoa1910182

for a patient with transfusion-dependent beta-thalassemia.

Ontogeny Related Changes In The Pediatric Liver Metabolome., Christopher M. Wilson, Qian Li, R Gaedigk, Chengpeng Bi, Saskia N. De Wildt, J Steven Leeder, Brooke L. Fridley

Manuscripts, Articles, Book Chapters and Other Papers

Background: A major challenge in implementing personalized medicine in pediatrics is identifying appropriate drug dosages for children. The majority of drug dosing studies have been based on adult populations, often with modification of the dosing for children based on size and weight. However, the growth and development experienced by children between birth and adulthood represents a dynamically changing biological system, with implications for effective drug dosing, efficacy as well as potential drug toxicity. The purpose of this study was to apply a metabolomics approach to gain preliminary insights into the ontogeny of liver function from newborn to adolescent.

Methods: Metabolites …

Alternative Splicing Of The Slco1b1 Gene: An Exploratory Analysis Of Isoform Diversity In Pediatric Liver., Bianca D. Van Groen, Chengpeng Bi, Roger Gaedigk, Vincent S. Staggs, Dick Tibboel, Saskia N. De Wildt, J Steven Leeder

Manuscripts, Articles, Book Chapters and Other Papers

The hepatic influx transporter OATP1B1 (SLCO1B1) plays an important role in the disposition of endogenous substrates and drugs prescribed to children. Alternative splicing increases the diversity of protein products from > 90% of human genes and may be triggered by developmental signals. As concentrations of several endogenous OATP1B1 substrates change during growth and development, with this exploratory study we investigated age-dependent alternative splicing of SLCO1B1 mRNA in 97 postmortem livers (fetus-adolescents). Twenty-seven splice variants were detected; 10 were confirmed by additional bioinformatic analyses and verified by quantitative polymerase chain reaction, and selected for detailed analysis based on relative abundance, association with …

All Ttg Positive Patient Do Not Have Celiac Disease, Pankaj Vohra, Kalyan Ray Parashette, Rajmohan Dharmaraj, Angela Deubel, Richardo Castillo, Jacqueline Fridge

Pediatrics Research and Scholarship

Tissue transglutaminase antibody IgA level (tTG) is an excellent screening test for celiac disease in the presence of adequate IgA levels. Most labs while screening for Celiac disease (CD) will do the IgA levels automatically. However the serological test is not a diagnostic test.

Cow's Milk Protein-Induced Villous Atrophy And Elevated Celiac Autoimmunity In Children With Celiac Disease On A Glutten-Free Diet: A Report Of Three Cases, Kristin Capone, Naire Sansotta, Pankaj Vohra, Stefano Guandalini

Pediatrics Research and Scholarship

Objective: To describe the serologic and histologic response of three patients with celiac disease who had persistent autoimmunity and villous atrophy despite a strict gluten-free diet, to the elimination of cow's milk protein.

Practice Survey: Adherence Monitoring And Intervention In Pediatric Gastroenterology And Hepatology., Michele H. Maddux, Shawna Ricks, Julie A. Bass, James F. Daniel, Ellen Carpenter, Kimberely Radford

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Despite significant medication nonadherence rates among youth with pediatric gastroenterology and hepatology disorders, little is known about current adherence practices in pediatric gastroenterology care. This study summarizes current practices surrounding adherence monitoring and intervention in pediatric gastrointestinal (GI) and hepatologic care in the USA.

Participants and methods: One hundred and fifty-four pediatric GI providers completed an online survey designed to examine current practices surrounding adherence monitoring and intervention, specific strategies used to monitor and treat poor adherence, and the barriers currently experienced in relation to adherence monitoring and intervention.

Results: Practices varied greatly in terms of when and how …

Prevalence Of Fatty Liver In Japanese Children Ages 4 To 12 Years Old : Relationship To Obesity : An Epidemiological Ultrasonographic Survey, Kunihiko Tominaga

Loma Linda University Electronic Theses, Dissertations & Projects

The prevalence of fatty liver disease in children is not well established and its relationship to childhood obesity is poorly defined. The present study of 810 northern Japanese school-aged children (4-12 years old), determined the prevalence of fatty liver and its relationship to gender and degree of obesity. Diagnosis of fatty liver was assessed by real-time ultrasonography.

RESULTS: 1. The overall prevalence of fatty liver is 2.6 %. 2. Fatty liver prevalence is higher for boys (3.4 %) than for girls (1.8 %), although not statistically significant (P = 0.15). 3. Fatty liver occurs in children as young as 6 …