Results 31 to 40 of about 570 (99)
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 +3 more
wiley +1 more source
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 +7 more
wiley +1 more source
Research Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis
BioMed 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
Case 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
Kartagener syndrome: A review of three cases
Sahel Medical Journal, 2015 Kartagener's syndrome (KS) is an autosomal recessive subgroup of primary ciliary dyskinesia (PCD) which presents as sinusitis, bronchiectasis, and dextrocardia .The deficit in the coordination of ciliary motion results in mucus retention and recurrent ...
Avadhesh Kumar +6 more
doaj +1 more source
Case 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
Primary ciliary dyskinesia [PDF]
Vojnosanitetski Pregled, 2004 In patients with chronic respiratory diseases that last since the early childhood, primary ciliary dyskinesia (PCD) needs to be considered. Four patients reviewed in this paper were with typical disease history and clinical picture, as well as clear ...
Plavec Goran +4 more
doaj +1 more source
National Journal of Medical Research, 2012 Background: Genetically determined syndromes of ciliary dyskinesia prevent normal transport of mucus from the bronchial tree to the mouth and result in serious impairment of lung defence system.male infertility was sometimes associated with Immotile ...
Palaparti Jayakar Babu +2 more
doaj
Pediatric Pulmonology, Volume 60, Issue 12, December 2025.ABSTRACT Background In cystic fibrosis (CF), the defect of the CF transmembrane conductance regulator (CFTR) can also affect sensory nerve cell function, as recently demonstrated in animal models. The aim of this prospective cohort study was to investigate whether taste and smell disorders in CF correlate with persistent CFTR dysfunction detectable by ...
Lea Christiane Beermann +9 more
wiley +1 more source