Results 121 to 130 of about 4,180,741 (282)

Pattern of diagnostic evaluation for the causes of pediatric acute liver failure: an opportunity for quality improvement

Objective: To describe the frequency of diagnostic testing for the 4 most common causes of pediatric acute liver failure (PALF) (drugs, metabolic disease, autoimmune process, and infections) in indeterminate PALF within the PALF Study Group Database ...
Pediatric Acute Liver Failure Study Group
core  

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India

Gastro Hep Advances
Background and Aims: Wilson's disease (WD) is a disorder of copper metabolism caused by a mutation in the ATP7B gene. We aimed to comprehensively evaluate the clinical and genetic profiles of patients with WD.
Anand V. Kulkarni, Govardhan Bale, Ravikanth Vishnubotla, Anuhya Rambhatla, Mithun Sharma, Swapnali Sabhapandit, Archana Chintam, Manasa Alla, Shantan Venishetty, Sowmya Iyengar, Ravi Babu Komalla, Sumana Kolar Ramachandran, Balachandran Menon, Rakesh Kalapala, Rajesh Gupta, Padaki Nagaraj Rao, Duvvur Nageshwar Reddy, Michael L. Schilsky, K.Rajender Reddy   +18 more
doaj   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Adeno-Associated Virus Type 2 and Human Adenovirus Species F Type 41 Co-infection Associated with Acute Severe Hepatitis in Children, California, USA

Emerging Infectious Diseases
Since late 2021, clusters of acute severe hepatitis of unknown etiology in previously healthy children, including some requiring liver transplantation, have been reported worldwide.
Ran Zhuo, Colette J. Matysiak Match, Sanchi Malhotra, Huan Vinh Dong, Kristina Adachi, Robert S. Venick, Grace Aldrovandi, Shangxin Yang   +7 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

PEDIATRIC ACUTE LIVER FAILURE AS A COMMON COMPLICATION IN HOSPITALIZED CHILDREN DIAGNOSED WITH ACUTE HEPATITIS A

Background: Acute hepatitis A is one of the leading causes of acute viral hepatitis in children and is generally a self-limiting illness. However, a small proportion of affected children may develop pediatric acute liver failure (PALF), a life ...
MJ KHAN, R GUL, A FAROOQ, F ZUHRA, Z MUHAMMAD, Z ULLAH   +5 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Some clinical and humoral aspects of liver failure in children and adolescents

Medisan, 2020
Introduction: The acute liver failure is an entity of multifactorial origin that is presented in previously healthy children and has direct repercussion in the synthesis, clotting and purification functions.
Pablo Antonio Hernández Dinza, Elizabeth Aurora Cabrera Cabrales, Rosario Guerra Cosme, Marlen Quesada Castillo, Aloima Reifes Martén   +4 more
doaj