Results 51 to 60 of about 1,222,131 (133)

Breaking patterns: Multiple spleens and the absent right kidney—A rare and unique case report in a 33-year-old burn victim

Rare
Polysplenia 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, Mohammed Iliyas Sheikh   +1 more
doaj   +1 more source

Biliary Atresia With Situs Inversus Abdominalis Managed by Kasai Portoenterostomy: A Case Report From Muhimbili National Hospital, Tanzania

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Biliary atresia associated with situs inversus abdominalis is a rare congenital combination that complicates diagnosis and surgical orientation. Early recognition, meticulous preoperative planning, and timely Kasai portoenterostomy can achieve favorable short‐term outcomes.
Rajabu Athumani Bakari, Alfred Chibwae, Brian Kimanthi, Tariq Aziz, Georvin Marco Haule, Novath Ngowi, Ally Hamisi Mwanga, Zaitun M. Bokhary   +7 more
wiley   +1 more source

Polysplenia with situs inversus totalis, azygos continuation of the inferior vena cava, and duplication of the superior vena cava in a healthy adult: A case report

Radiology Case Reports
Polysplenia syndrome is an embryological disorder whereby the usual left-right asymmetry of thoracic and abdominal viscera fails to develop. It is a rare entity, estimated to occur at a frequency of 1 in 40,000, and is often associated with cardiac and ...
Rahman Ladak, HBSc, William Magnuson, MD
doaj   +1 more source

Clinical and Genetic Study of a Pseudo‐Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1‐Associated Family Reported in Chinese Population

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report pseudo‐dominant PCD inheritance in a Chinese family due to novel DNAAF1 mutations. Affected members across two generations showed significant variability in lung disease progression and visceral arrangement. ABSTRACT Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal ...
Zhuoyao Guo, Ping Li, Gaoli Jiang, Weicheng Chen   +3 more
wiley   +1 more source

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, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa, Akiko Seki, Naomasa Makita, Jean‐Jacques Schott, Arthur A. M. Wilde   +7 more
wiley   +1 more source

Polysplenia syndrome in the adult patient. Case report with review of the literature

Annals of Hepatology, 2004
Aims: To report a case of polysplenia syndrome (PSS) in an adult patient. Background: The PSS is a form of situs ambiguos with multiple spleen, cardiac anomalies, abdominal heterotaxia, short pancreas, major venous system and bronquial malformations.
Juan José Plata-Muñoz, Daniel Hernández-Ramírez, Francisco Javier Anthón, Eitan Podgaetz, Francisco Avila-Flores, Carlos Chan   +5 more
doaj   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

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, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

Polysplenia and jejunal atresia with agenesis of the dorsal mesentery.

, 1989
Polysplenia syndrome has been well described. It is associated with gastrointestinal atresia in patients with situs inversus abdominus; however, it appears that this case represents the first occurrence of polysplenia with jejunal atresia having agenesis
Barber, G A, Whalen, Thomas V, MD, Moore, G   +2 more
core   +1 more source

Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult

Eurasian Journal of Medicine, 2019
Here we present the case of an adult male patient with the anomalies of polysplenia, Kartagener syndrome, dorsal pancreas agenesis, and adult polycystic kidney disease.
Mustafa Kemal Demir, Yavuz Furuncuoglu
doaj   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

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, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source