Results 71 to 80 of about 10,375 (181)
Journal of Pediatric Surgery Case Reports, 2016 A case of monozygotic twins, one of whom suffered from biliary atresia and the other one was apparently healthy, is described herein. Children with biliary atresia appear to be vulnerable to developmental lags in the physical and cognitive performance ...
Yang Chen, Jianghua Zhan
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American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
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PROTEOMICS – Clinical Applications, Volume 20, Issue 4, July 2026.ABSTRACT Background and aims Non‐alcoholic Fatty Liver Disease (NAFLD) affects about a quarter of the world's population. Liver biopsy remains the gold standard for diagnosing the progressive form of NAFLD called Non‐alcoholic Steatohepatitis (NASH) but it is invasive, prone to sampling errors and observer variability, and impractical for widespread ...
Anna Negroni +5 more
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Liver International, Volume 46, Issue 7, July 2026.ABSTRACT Liver fibrosis is a shared pathological phenotype of chronic liver diseases of diverse etiologies, including viral hepatitis, alcohol‐associated liver disease and metabolic dysfunction–associated steatohepatitis (MASH), as well as cholestatic liver diseases such as primary biliary cholangitis and primary sclerosing cholangitis, and may ...
Kiminori Kimura, Michinori Kohara
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly +3 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
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Microstructural Evidence for Early Childhood Stress in a Community in Transition at Hisban, Jordan
American Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.ABSTRACT Objectives Identification of stress across infancy and childhood can reflect maternal and environmental influences on early life health. In the 19th century community of Hisban, many infants died before 2 years of age with evidence of metabolic disease, including rickets, that likely ties with maternal health.
Kristina Cockerille +4 more
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N6‐Methyladenosine (m6A) in Liver Disease: Pathogenic Mechanisms and Therapeutic Potential
iNew Medicine, Volume 2, Issue 2, June 2026.ABSTRACT Accumulating evidence highlights the critical role of epigenetic modifications, particularly N6‐methyladenosine (m6A), in liver disease. As the most abundant RNA modification in eukaryotic cells, m6A is dynamically regulated by multicomponent m6A methyltransferases (e.g., METTL3 and METTL14), demethylases (FTO and ALKBH5), and m6A‐binding ...
Yingfen Chen +6 more
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Retrospective chart review of immobilized lipase cartridge use in children with short bowel syndrome
Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 6, Page 1488-1494, June 2026.Abstract This retrospective, single‐center chart review studied the use of an in‐line, immobilized lipase cartridge (ILC) in children with short bowel syndrome (SBS) at Children's Mercy Hospital. For parenteral nutrition (PN)‐dependent patients, the primary endpoint was enteral feeding progression, evaluated by comparing monthly change from baseline in
Elizaveta Khenner +6 more
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Biliary atresia associated with choledochal cyst
African Journal of Paediatric Surgery, 2009 Choledochal cyst and biliary atresia are rare but important causes of neonatal jaundice. Both present with jaundice and acholic stool in neonatal period. Treatment and prognosis of both entities are very different.
Obaidah Abu +3 more
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