Results 51 to 60 of about 2,459 (211)

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

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

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

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

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, Ibrahim Elmahalawy, Mohammed A Agha   +2 more
doaj   +1 more source

Cor triatriatum presenting as heart failure with reduced ejection fraction: a case report [PDF]

, 2011
Cor triatriatum is a rare congenital cardiac malformation and it usually refers to the left atrium. We report an unusual case of cor triatriatum in a 33 - year old woman presented with congestive heart failure caused by left ventricular systolic ...
John Kokotsakis, Vania Anagnostakou, George Almpanis, Ioannis Paralikas, Ioannis Nenekidis, Theodoros Kratimenos, Efi Prapa, Nikolitsa Tragotsalou, Achilleas Lioulias, Andreas Mazarakis   +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, Kojo Amanfo Ninson, Abdul Samed Sulemana, Richardson Edwin Annan, Vishnu Nene Limon Abayateye, Gifty Aba Donkor, Moses Dokurugu, Ninnang Tobias   +7 more
wiley   +1 more source

Exploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study

Medicina
Situs 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, Mariya Dimitrova, Desislava Makakova, Boris Tilov   +3 more
doaj   +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

Cor triatriatum sinister with situs inversus totalis in an infant. [PDF]

, 2012
Cor triatriatum sinister is a rare congenital cardiac malformation characterized by a membrane in the left atrium which separates the left atrium into the proximal and distal chambers.Association of cor triatriatum is extremely rare with situs inversus
Gadekar, A., Meshram, Sushant, Pathak, Swanand, Taksande, Amar M.   +3 more
core   +1 more source