Results 51 to 60 of about 2,415 (196)
Medicine Bulletin, EarlyView.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
RarePolysplenia is a congenital condition characterized by the presence of multiple small accessory spleens with absent of primary spleen. While polysplenia may occur in isolation or may be present as part of Polysplenia syndrome.
Jayeshkumar Kanani +1 more
doaj +1 more source
Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome
Revista Portuguesa de Cardiologia, 2015 Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of ...
Ricardo Duarte, Humberto Morais
doaj +1 more source
Staging of biliary atresia at diagnosis by molecular profiling of the liver [PDF]
, 2010 Background Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression.
Anil G Jegga +12 more
core +1 more source
Clinical Genetics, EarlyView.CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab +7 more
wiley +1 more source
Non-cardiac issues in patients with heterotaxy syndrome
Annals of Pediatric Cardiology, 2014 Management of complex congenital heart disease in patients with Heterotaxy syndrome (HS) has steadily improved. However, there is an insufficient appreciation of various non-cardiac issues that might impact the overall status of these patients.
Shyam S Kothari
doaj +1 more source
Appropriate Route Selection for Extracardiac Total Cavopulmonary Connection in Apicocaval Juxtaposition [PDF]
, 2012 BACKGROUND:A malpositioned heart with apicocaval juxtaposition may complicate the management of patients with functional single ventricles when total cavopulmonary connection is performed.
Abe Masakazu +9 more
core +1 more source
Wandering Spleen, A Rare Cause of Acute Abdomen: A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT A wandering spleen (WS) is rare and often presents a diagnostic challenge to clinicians. We report a WS in a 16‐year‐old who presented with abdominal pain, vomiting, and peritonism. Imaging (ultrasound and CT scans), which usually facilitates a prompt diagnosis, was inconclusive, and the diagnosis was made by exploratory laparotomy.
John Kanyiri Yambah +7 more
wiley +1 more source
Malrotation and volvulus associated with heterotaxy syndrome
Journal of Indian Association of Pediatric Surgeons, 2012 A 2-year-old boy with heterotaxy syndrome with associated polysplenia, ventricular septal defect, and malrotation of gut with volvulus is presented. There was delay in diagnosis due to the unusual plain abdominal radiography findings.
Santosh K Mahalik +2 more
doaj +1 more source
Heterotaxy syndrome with left atrial isomerism and polysplenia is a unique entity: a case report
Egyptian Journal of Chest Disease and Tuberculosis, 2021 A state of a patient with heterotaxy syndrome with polysplenia was indiscriminately diagnosed through visualized estimation (computed tomography and pelviabdominal ultrasound) regardless of the pathological state.
Rana El-Helbawy +2 more
doaj +1 more source