Results 101 to 110 of about 1,256,915 (264)

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

Peritonitis generalizada de origen apendicular con hallazgo intraoperatorio de situs inversus abdominalis

Cirugía Paraguaya
El situs inversus es una enfermedad congénita muy rara que afecta a una de cada 10 000 personas. La revelación desitus inversuspor un síndrome peritoneal es un evento extremadamente raro.
Daisy Analía González Ayala
doaj   +1 more source

Situs inversus Totalis: Always recall the uncommon

Clinical Case Reports, 2019
Situs inversus totalis has been reported as a rare entity. The detailed knowledge of the human structure and its anatomical variations is of great importance for the daily clinical practice and even more critical in emergency medicine.
G. Tsoucalas, V. Thomaidis, A. Fiska
semanticscholar   +1 more source

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia [PDF]

, 2016
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring expensive equipment and experienced PCD scientists. This study aims to develop a
Behan, Laura, Carroll, Mary, Dimitrov, Borislav D., Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Packham, Samantha, Walker, Woolf T.   +10 more
core   +1 more source

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

Clinical 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, Tingting Zhao, Minghui Wei   +2 more
wiley   +1 more source

Laparoscopic Cholecystectomy in Situs Inversus Totalis.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2019
Situs inversus is a rare condition. It is characterised by reverse handed positioning of the internal viscera. Laparoscopic cholecystectomy is the standard procedure for cholelithiasis, but it may lead to technical difficulties in case of situs inversus,
Falak Sher Malik, U. I. Butt, W. Khan, S. Bilal, M. Umar, Said Umer   +5 more
semanticscholar   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Mechanical thrombectomy for cerebrovascular occlusion in a patient with situs inversus

Radiology Case Reports
Situs inversus is a rare congenital abnormality characterized by mirror-image transposition of the major visceral organs and vessels. Few reports have discussed the use of mechanical thrombectomy in acute ischemic stroke with situs inversus.
Takaaki Morimoto, MD, PhD, Naoya Yoshimoto, MD, Takashi Kuragaichi, MD, Junya Taki, MD, Keisuke Yamada, MD, PhD   +4 more
doaj   +1 more source

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]

, 2018
We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara   +10 more
core  

Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]

, 2017
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA, Amelia Shoemark, Hannah M Mitchison, Harrison MJ, Hirst R, Murcia NS, Piorunek T   +6 more
core   +3 more sources