Results 71 to 80 of about 57,963 (216)
Does breastmilk with medium‐chain triglycerides (MCT) after Kasai support growth and improve surgical outcomes? Abstract Objective To relate post‐surgical feeding regimens to growth and surgical outcomes in children with biliary atresia (BA) after hepato‐portoenterostomy (Kasai).
Thora Wesenberg Helt +6 more
wiley +1 more source
Abstract Objective To evaluate neurodevelopment at 24 months in infants surgically treated for esophageal atresia (EA), using the ages and stages questionnaire (ASQ), and identify perinatal and early‐life factors associated with developmental delay. Methods Infants with EA were prospectively enrolled in a structured multidisciplinary follow‐up program.
Julia Tagmouti +8 more
wiley +1 more source
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
Histología de ovario en hembras vitelogénicas de Leptodactylus latinasus (Anura, Leptodactylidae)
Leptodactylus latinasus pertenece al grupo L. fuscus, cuyas especies construyen cámaras donde colocan un nido de espuma, donde luego se desarrollan los primeros estadios larvales.
Ana Pucci Alcaide +3 more
doaj
Sentinel events in pediatric hepatology: A pilot simulation curriculum
Abstract Objectives Sentinel hepatology events require robust prior experience to accurately diagnose and manage. Given the rarity of complex pediatric liver disease, gastroenterology (GI) fellows do not uniformly get exposure to these patients.
Anne Lyon +7 more
wiley +1 more source
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan +2 more
wiley +1 more source
ABSTRACT Liver transplantation (LT) is the standard treatment for end‐stage liver disease, yet the gap between the demand for organs and their availability is widening. In Taiwan, the scarcity of deceased donor organs highlights the need for optimized utilization strategies.
Jie‐Lan Jhang +11 more
wiley +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Four-Dimensional Computed Tomography Differentiates Congenital Right Pulmonary Vein Atresia From Suspected Arteriovenous Malformation: A Case Report. [PDF]
Congenital pulmonary vein atresia (PVA) is a rare condition often associated with vascular anomalies and complex pulmonary hemodynamics. We present a case in which 4D‐CT effectively differentiated congenital right PVA, presenting with a varix and abnormal vein, from a suspected pulmonary arteriovenous malformation.
Arano T +9 more
europepmc +2 more sources
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source

