Results 51 to 60 of about 636,740 (211)

Rolling stones: an instructive case of neonatal cholestasis

BMC Pediatrics, 2022
Background Jaundice within the first 1–2 weeks of a neonate’s life will generally self-resolve; however, if it lasts longer than this time frame it warrants further work up.
Paige Killelea, Shruti Sakhuja, Jose Hernandez, M. John Hicks, Sanjiv Harpavat   +4 more
doaj   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Défice de glicose-6-fosfato desidrogenase, ictericia neonatal e sindroma de Gilbert.

Acta Médica Portuguesa, 2002
The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns.
Elísio Costa, Emilia Vieira, Esmeralda Cleto, José M Cabeda, Luciana Pinho, Eduarda Coimbra, Rosário Dos Santos, José Barbot   +7 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Severe neonatal hyperbilirubinemia in Crigler‐Najjar syndrome model mice can be reversed with zinc protoporphyrin

Hepatology Communications, 2017
Neurotoxic bilirubin is solely conjugated by UDP‐glucuronosyltransferase (UGT) 1A1. Due to an inadequate function of UGT1A1, human neonates develop mild to severe physiological hyperbilirubinemia. Accumulation of bilirubin in the brain leads to the onset
Ryoichi Fujiwara, Ryo Mitsugi, Asuka Uemura, Tomoo Itoh, Robert H. Tukey   +4 more
doaj   +1 more source

A single-center experience on exchange transfusion therapy in 123 full-term cases of severe neonatal hyperbilirubinemia in Wuhan

Journal of Maternal-Fetal & Neonatal Medicine, 2020
Objective To describe the clinical experience in application of exchange transfusion therapy (ETT) in the treatment of severe neonatal hyperbilirubinemia.
Ling Duan, Shan Gan, Hongbing Hu
semanticscholar   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Evaluation of cord blood alkaline phosphatase levels as an indicator of neonatal jaundice

Al-Azhar Assiut Medical Journal, 2020
Introduction Neonatal jaundice remains an important neonatal issue, and the condition is mostly benign. Jaundice is a complex disease of high bilirubin levels in the body and yellowing of the skin and mucous membranes.
Doha Mohammed El-Amin, Yasser Abd El-Rheman Ahmed, ALaa Mohammed Hashim, Ahmed Hagag Asmail   +3 more
doaj   +1 more source

A Retrospective Study of High‐Risk Infants: Insights From a Regional Hospital in Victoria, Australia

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim To determine the magnitude of high‐risk infants cared for at a regional hospital in Victoria, Australia and to identify the resources required to care for them. Methods A retrospective study was conducted between January 2017 and December 2019 in a regional hospital in Victoria, Australia.
Romanie Rodrigo, Reji Thomas, Jennifer You, Shizar Nahidi, Sheikh Arif Maqbool Kozgar   +4 more
wiley   +1 more source

Clinical study to determine the predictability of significant rebound hyperbilirubinemia in neonates after phototherapy and conditions likely to be associated with it: Prospective observational study in a teaching hospital in Eastern India

Journal of Family Medicine and Primary Care, 2023
Aim: Neonatal hyperbilirubinemia is defined as yellowish discoloration of the skin, conjunctive, and sclera from the elevated serum or plasma bilirubin in the newborn. The standard of care for the management of neonatal hyperbilirubinemia is phototherapy
Shivakumar Belide, Md Waseem Uddin, Sushil Kumar, Rajesh Kumar Sethi, Kumar Diwakar, Sandeep Jhajra   +5 more
doaj   +1 more source