Results 51 to 60 of about 1,222,414 (189)

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

open access: yesMolecular 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   +3 more
wiley   +1 more source

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

open access: yesClinical 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

Surgical Challenges in Papillary Thyroid Cancer Patient With Kartagener's Syndrome: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
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

open access: yesJournal of Obstetrics and Gynaecology, 2002
(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

Unraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
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

Surgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9‐Year‐Old Female

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
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

open access: yesBioMed Research International, Volume 2026, Issue 1, 2026.
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

Zero‐Fluoroscopy Radiofrequency Ablation of a Right Ventricular Outflow Tract PVC in a Patient With Situs Inversus Totalis: When Precision Matters

open access: yesCase Reports in Cardiology, Volume 2026, Issue 1, 2026.
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

Dextrocardia in Heterotaxy Syndrome (Polysplenia Variant) in a 36‐Year‐Old Ethiopian Woman: A Case Report and Literature Review

open access: yesCase Reports in Cardiology, Volume 2026, Issue 1, 2026.
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

open access: yes, 1997
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

Home - About - Disclaimer - Privacy