Results 41 to 50 of about 1,338 (153)

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

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

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

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

Incidental Diagnosis of Situs Inversus Totalis in a 45‐Year‐Old Male Who Presented With Acute Asthma Exacerbation: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Incidental situs inversus totalis (SIT) requires thorough anatomical mapping to exclude associated syndromes (e.g., Kartagener) and congenital anomalies. Early identification, patient education on mirrored anatomy, and multidisciplinary coordination are essential to prevent iatrogenic errors during future interventions, even in asymptomatic ...
Ragasa Getachew Bayisa, Lensa Million Baharu, Mohammed Mecha Abafogi, Yosef Bekele Bonsa, Mohammed Kedir Shukri, Tamirat Godebo Woyimo   +5 more
wiley   +1 more source

Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report

Journal of Nepal Medical Association, 2019
Persistent Mullerian duct syndrome is a rare entity and usually presents with common symptoms of undescended testis and hernia. The syndrome is caused by an insufficient amount of Mullerian inhibiting substance or due to the insensitivity of the target ...
Umesh Kumar Sharma, Dinesh Kumar Thapa, Dinesh Pokhrel, Amit Kumar Shah   +3 more
doaj   +1 more source

Massive Hemoptysis in a Patient With Eisenmenger Syndrome, Polysplenia and Transverse Liver

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Hemoptysis is defined as blood‐streaked sputum from the lower parts of the respiratory tract. Hemoptysis, even in small amounts, is a frightening and alarm sign for possible underlying conditions such as infections, pulmonary diseases, neoplastic conditions, cardiovascular alterations, vasculitis, traumatic events, hematological derangements ...
Mohsen Shafiepour, Behnam Dalfardi, Ali Nemati, Sina Bakhshaei, Elahenaz Parsi mood   +4 more
wiley   +1 more source

Performance of Prenatal Ultrasound Screening for the Relative Positioning of Mesenteric Vessels

Journal of Ultrasound in Medicine, Volume 44, Issue 1, Page 35-45, January 2025.
Objectives Abnormal relative positioning of the superior mesenteric artery (SMA) and vein (SMV) can lead to intestinal malrotation that predisposes to midgut volvulus. The aim of this study was to assess the prenatal ultrasound ability to visualize the relative position of SMA and SMV in normal pregnancies. Methods Prospective cohort study performed in
Jean Michel Faure, Anne Larroque‐Devigne, Dominique Forgues, Eve Mousty, Alain Couture, Nicolas Kalfa, Olivier Prodhomme, Florent Fuchs   +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

Vitamin K deficiency bleeding and optimal prophylaxis methods in biliary atresia: A surveillance study in Japan

Pediatrics International, Volume 67, Issue 1, January/December 2025.
Abstract Background Vitamin K (VK) prophylaxis refers to the administration of VK to newborns to prevent neonatal VK deficiency bleeding (VKDB), which is characterized by intracranial hemorrhage (ICH). This study investigated the relationship between VK prophylaxis methods and VKDB in biliary atresia (BA).
Ryuji Okubo, Chiyoe Shirota, Motoshi Wada, Masato Shinkai, Hirofumi Tomita, Satoshi Umeda, Hiromu Miyake, Toshiharu Matsuura, Shigehisa Fumino, Akio Odaka, Taizo Hibi, Toshio Harumatsu, Akiko Yokoi, Tomoro Hishiki, Shigeru Ono, Kohei Matsushita, the Japanese Biliary Atresia Society   +16 more
wiley   +1 more source