Results 51 to 60 of about 1,222,414 (189)
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 +3 more
wiley +1 more source
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
Surgical Challenges in Papillary Thyroid Cancer Patient With Kartagener's Syndrome: A Case Report
ABSTRACT Kartagener's syndrome is a rare disorder defined by situs inversus, chronic sinusitis, and bronchiectasis, with mirror‐image anatomy that may alter recurrent laryngeal nerve course and vascular structures. No previous reports have described thyroid cancer surgery details in this population.
Jianhao Huang +2 more
wiley +1 more source
Kartagener's syndrome in pregnancy
(2002). Kartagener's syndrome in pregnancy. Journal of Obstetrics and Gynaecology: Vol. 22, No. 1, pp. 89-90.
Sharon, Cooley +2 more
openaire +2 more sources
ABSTRACT Kartagener's Syndrome (KS), a rare autosomal recessive disorder and a subset of Primary Ciliary Dyskinesia (PCD), is characterized by chronic sinusitis, bronchiectasis, and, in approximately 50% of cases, situs inversus. This condition arises from genetic mutations that impair motile cilia function, leading to defective mucociliary clearance ...
Ibrahim Khalil +3 more
wiley +1 more source
ABSTRACT Kartagner syndrome is a rare congenital autosomal recessive disorder of ciliary movement, characterized by triad of chronic sinusitis, situs inversus and bronchiectasis leading to recurrent chest and sinuses infections. The primary objectives of this case report is to highlight the presentation of this rare disorder, its surgical challenge ...
Pakeezah Tabasum +5 more
wiley +1 more source
Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis
Purpose This study conducted a comprehensive bibliometric analysis of research hotspots and development trends in ciliopathies to provide an overview of the global research landscape. Methods The study retrieved relevant literature on ciliopathies from the Web of Science Core Collection up to July 27, 2024.
Qian Dong +4 more
wiley +1 more source
Background Congenital cardiac anomalies present unique challenges for adult cardiac electrophysiologists, particularly when attempting complex ablation procedures. Case Summary We report the case of a 60‐year‐old male with situs inversus totalis who presented with symptomatic, high‐burden premature ventricular complexes (PVCs) refractory to medical ...
Eduardo Sanhueza +8 more
wiley +1 more source
Background Heterotaxy syndrome—polysplenia variant (left isomerism) with dextrocardia is a rare constellation of laterality defects characterized by left‐isomerism, multiple splenic nodules, and associated vascular and visceral anomalies. This report describes an adult Ethiopian woman who presented with nonspecific abdominal pain and was found to have ...
Kedir Negesso Tukeni +6 more
wiley +1 more source
Cardiac Surgery for Kartagener Syndrome
Two patients (one girl, one boy) with Kartagener syndrome (situs inversus, bronchiectasis, sinusitis), despite pulmonary problems and associated congenital cardiac anomalies, were operated on at the ages of 4 years and 7 years, respectively. They had had
U. Bauersfeld +14 more
core +1 more source

