Results 81 to 90 of about 13,117 (209)
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
Polüspleeniaga heterotaksia sündroom [PDF]
Eesti Arst 2015; 94(11):675 ...
Tiivel, Marek
core +2 more sources
Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients
In this article, we investigate the pathogenesis of three unrelated Chinese children who exhibited mild to moderate developmental delay, mild intellectual disability, facial dysmorphism, mild speech delay, hypotonia, feeding difficulties, brain abnormalities, attention deficit hyperactivity disorder (ADHD), and autistic behaviors. Furthermore, both the
Shan Ou +14 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
Situs inversus is a challenge to the physician, both for the diagnostic and for the therapeutic. A combination of partial situs inversus, annular pancreas and polysplenia with bowel malrotation has been reported in a newborn who presented as duodenal ...
Y Ben Ahmed +6 more
doaj +1 more source
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Abete +150 more
core +1 more source
Incidental Finding of Dextrocardia with Situs Inversus in a 59-Year-Old Man
Dextrocardia with situs inversus is a rare congenital anomaly, which is characterized by right-sided heart apex and inversely rotated visceral organs of the abdomen.
Emmanuel Kobina Mesi Edzie +4 more
doaj +1 more source
Appendicular peritonitis in
Introduction Situs inversus is a congenital anomaly characterized by the transposition of the abdominal viscera. When associated with dextrocardia, it is known as situs inversus totalis.
Dia Abdarahmane +7 more
doaj +1 more source
Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis [PDF]
We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia.
Lopes, P, Silva, R, Vieira, JP
core
Noncompaction cardiomyopathy and heterotaxy syndrome [PDF]
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD).
Martinez, Hugo R. +3 more
core +1 more source

