Results 41 to 50 of about 1,849 (196)
Student's Journal of Health Research Africa, 2023 Biliary atresia is a destructive, idiopathic, and inflammatory cholangiopathy that affects intra and extra-hepatic bile ducts leading to fibrosis and obliteration of the biliary tract and development of liver cirrhosis.
Evalyne Tukwasibwe +3 more
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Polysplenia Syndrome and the Development of Heart Failure due to Associated Congenital Heart Defect. [PDF]
J Belg Soc RadiolKey message: Patients with polysplenia syndrome can develop pulmonary hypertension and heart failure due to underlying congenital heart disease, underscoring the need for early recognition and intervention to prevent further progression of the ...
Van Ballaer V, Meersman P, Hustings N.
europepmc +2 more sources
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
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Fetal polysplenia and situs inversus in siblings. Case reports
, 2001 Heterotaxy syndromes, otherwise laterality defects, are variations from anatomic left-right asymmetry. Situs inversus is the complete reversal of the normal situs, still situs ambiguus is the randomisation of the normal organ position. Situs ambiguus may
Papp, Z +4 more
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Anomalies of Abdominal Organs in Polysplenia Syndrome: Multidetector Computed Tomography Findings
대한영상의학회지, 2016 Polysplenia syndrome is a rare situs ambiguous anomaly associated with multiple spleens and anomalies of abdominal organs. Because most of the minor anomalies do not cause clinical symptoms, polysplenia syndrome is detected incidentally in the adults ...
Sungwon Kim, Yong Seok Lee, Jin-Hee Jung
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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
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Current Topics of Progressive Cardiac Conduction Disease
Journal of Arrhythmia, Volume 42, Issue 3, June 2026.Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo +7 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 5, Page 937-945, May 2026.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
Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.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
MedicinaSitus anomalies, including situs inversus and situs ambiguous (SAMB), are rare congenital conditions typically noted in pediatric populations, with SAMB being particularly uncommon in adults.
Pavel E. Stanchev +3 more
doaj +1 more source