Results 71 to 80 of about 316,235 (202)

The Brazilian Alagille syndrome study: New insights from a multicenter national cohort

JPGN Reports, EarlyView.
Abstract Objectives To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data.
Elisa Carvalho, Gilda Porta, Irene Kazue Miura, Cristina Helena Targa Ferreira, Luciana Rodrigues Silva, Natascha Silva Sandy, Eleonora Druve Tavares Fagundes, Eliene Oliveira, Aline Falleiros Freitas, Adriana Maria Alves de Tommaso, Regina Sawamura, Melina Utz Melere, Sandra Maria Goncalves Vieira, Renata Belém Pessoa de Melo Seixas, Isadora de Carvalho Trevizoli, Alexandre Rodrigues Ferreira, Adriana Porta Miche Hirschfeld, Renata Pereira Sustovich Pugliese, Cibele Dantas Ferreira Marques, Maria Angela Bellomo Brandão, Raquel Borges Pinto, Leticia Helena Caldas Lopes, Jussara Melo de Cerqueira Maia, Ana Cristina Vieira de Melo, Carolina Sores Silva, Luiza Salgado Nader, Maria Tereza Guiotti, Roberta Vacari Alcântara, Leonardo Resende, Bruno Pereira Ribeiro Rocha, Nilza Maria Medeiros Perin, Adriana Teixeira Rodrigues, Vera Lúcia Baggio Danesi, Gabriel Hessel, Themis Reverbel Silveira   +34 more
wiley   +1 more source

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice

JPGN Reports, EarlyView.
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
Andrea E. DeBarber, Maya Fowler, P. Barton Duell, Eric Dybbro   +3 more
wiley   +1 more source

Shaping the research agenda of pediatric gastroenterology, hepatology, and nutrition: The proposal from an Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) expert group

JPGN Reports, EarlyView.
Abstract The Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) recognized the need to define research priorities and identify knowledge gaps to guide future investigations in pediatric digestive health. Following international examples, SIGENP aimed to provide a structured framework that aligns scientific innovation with ...
Carlo Agostoni, Daniele Alberti, Renata Auricchio, Maria Elisabetta Baldassarre, Osvaldo Borrelli, Matteo Bramuzzo, Teresa Capriati, Carlo Catassi, Sabrina Cenni, Marco Crocco, Salvatore Cucchiara, Luigi Dall'Oglio, Paola De Angelis, Marco Deganello Saccomani, Fabiola Di Dato, Angelo Di Giorgio, Antonella Diamanti, Valeria Dipasquale, Enrico Felici, Ruggiero Francavilla, Valentina Giorgio, Luigi Greco, Raffaele lorio, Flavio Labriola, Paolo Lionetti, Elena Lionetti, Giuseppe Maggiore, Monica Malamisura, Claudia Mandato, Antonio Marseglia, Emanuele Nicastro, Lorenzo Norsa, Salvatore Oliva, Licia Pensabene, Elena Sofia Pieri, Paolo Quitadamo, Giusy Ranucci, Sara Renzo, Claudio Romano, Silvia Salvatore, Luca Scarallo, Maria Immacolata Spagnuolo, Annamaria Staiano, Caterina Strisciuglio, Renato Tambucci, Riccardo Troncone, Pietro Vajro   +46 more
wiley   +1 more source

Nutritional status of infants with neonatal cholestasis

, 2008
Purpose We constructed a study to determine the association of anthropometric measurements, biochemical parameters and bone mineral content with nutritional status in infants with neonatal cholestasis. Methods The study included 38 children with neonatal
Arikan, Cigdem, Yuksekkaya, Hasan Ali, Cakir, Murat, Tumgor, Gokhan, Yagci, Rasit Vural, Baran, Masallah, Aydogdu, Sema   +6 more
core   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Emphysema in an 11‐month‐old boy with alpha‐1 antitrypsin deficiency

Pediatric Investigation, EarlyView.
Pediatric development of emphysema in Alpha‐1 Antitrypsin Deficiency (A1ATD) has been rarely described. In this case report, we document an 11‐month boy with A1ATD phenotype PiZZ with basilar centrilobular emphysema, the earliest such documented case.
Irvin Yi, Rachel Williams, Leela Chandrasekar, Saif Al‐Qatarneh   +3 more
wiley   +1 more source

Diversity of Disorders Causing Neonatal Cholestasis – The Experience of a Tertiary Pediatric Center in Germany [PDF]

, 2020
Background and Objective: Rapidly establishing the cause of neonatal cholestasis is an urgent matter. The aim of this study was to report on the prevalence and mortality of the diverse disorders causing neonatal cholestasis in an academic center in ...
Dechêne, Alexander, Gerner, Patrick, Hoerning, André, Hoyer, Peter F., Kathemann, Simone, Raub, Simon, Brosch, Michelle N.   +6 more
core   +1 more source

Severe hepatopulmonary syndrome with end-stage liver cirrhosis associated with pan-hypopituitarism in a pediatric patient

Journal of Clinical and Translational Endocrinology Case Reports
Cholestasis in the neonatal period requires a prompt and thorough evaluation. Panhypopituitarism is an uncommon but known cause of cholestasis. Here we present a rare and late complication of liver disease secondary to congenital hypopituitarism ...
Shawn A. Haupt, Jessica C. Chang, Roya Zarpak, Arash R. Zandieh, Nada A. Yazigi, Udeme D. Ekong, Juan F. Guerra, Thomas M. Fishbein, Cal S. Matsumoto, Alexander H. Kroemer, Khalid M. Khan   +10 more
doaj   +1 more source

Macular Rash, Thrombocytopenia, and Hyperbilirubinemia in a Preterm Infant

Case Reports in Pediatrics, 2019
Neonatal hyperthyroidism is usually caused by the passage of maternal thyroid receptor antibodies. This relatively rare condition has various manifestations including cholestasis, prematurity, and cardiomegaly.
Nurin Chatur, Marina Castro, Kin Fan Young Tai   +2 more
doaj   +1 more source

Cholestatic jaundice in infancy: struggling with many old and new phenotypes

Italian Journal of Pediatrics, 2019
Background Clinical diagnosis of neonatal cholestasis is considered to be an extremely challenging process. Here we highlight the importance not only of the prompt distinction between extrahepatic and intrahepatic cholestasis forms, but also of the ...
Claudia Mandato, Giada Zollo, Pietro Vajro   +2 more
doaj   +1 more source