Results 51 to 60 of about 4,922 (170)

Prevalence, Clinical Profile, and Factors Associated With Congenital Heart Disease in Children Diagnosed at National Referral Hospital, Bhutan: A Cross‐Sectional Study

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background Congenital heart disease is a structural or functional abnormality of the heart. The prevalence of congenital heart disease varies between countries, and mortality and morbidities are high in children with congenital heart diseases.
Nima Phuntsho, Yeshey Dorjey, Kuenley Pedon   +2 more
wiley   +1 more source

4. Database of dextrocardiac patients in KFSH & RC: Retrospective analysis of 360 patients over the past 20 years

Journal of the Saudi Heart Association, 2017
Clinical research. Presentation Type: Oral Presentation Introduction: Dextrocardia is the right-sided positioning of the human heart during embryological development. It may be isolated or associated with visceral dextroposition or malformations.
Naif Alghasab, Bander Alsheri, Suliman ALMosned, Hasan Alharbi, Reem Alameer, Fahad Alsheri, Ahmad Alzeid, Meshari ALZahrani, Yasmin ALTwaijri, K. BinKhuthaila Alanoud, Abdelmoneim Mahgoub Eldali, Fahad Alobaid, Shisamma Emmanual, Suleiman M. Kharabsheh   +13 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Situs inversus totalis with azoospermia in a patient presenting with liver abscess [PDF]

Journal of Clinical and Scientific Research, 2014
Situs inversus with dextrocardia is a rare congenital anomaly. Azoospermia and situs inversus may be encountered in ciliary dyskinesia syndromes.
P. Mohan Rao, A. Sridhar, I.V. Renuka, M. Venugopal, C. Aparna   +4 more
doaj   +1 more source

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

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, Ping Li, Gaoli Jiang, Weicheng Chen   +3 more
wiley   +1 more source

Early Structural Lung Changes in Primary Ciliary Dyskinesia (PCD)

Pediatric Pulmonology, Volume 61, Issue 7, July 2026.
ABSTRACT Introduction Primary Ciliary Dyskinesia (PCD) is an inherited disorder commonly presenting as an autosomal recessive condition causing dysfunction of muco‐ciliary clearance, which can lead to bronchiectasis. As newborn screening is not available for PCD, diagnosis is frequently delayed, often resulting in a degree of structural lung disease ...
Phil Robinson, Megumi Yokote
wiley   +1 more source

How to facilitate ultrasound examination of the fetal heart: the 5‐4‐3‐2‐1 method

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 124-129, July 2026.
ABSTRACT We propose a new standardized, systematic method of fetal cardiac screening, the step‐by‐step ‘5‐4‐3‐2‐1’ method. This method is based on understanding the cardiac structures through a process of navigating between the different recommended views during an abdominothoracic sweep, following a user‐friendly checklist to identify the main ...
M. Levy, B. Stos
wiley   +1 more source

Kartagener Syndrome: A Rare Genetic Disorder

Journal of Nepal Medical Association, 2009
Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure ...
Kunjan Shakya
doaj   +1 more source

Evidence‐based guideline for clinical practice in the diagnosis, treatment, management, and prevention of recurrent wheezing in infants and toddlers in China

Pediatric Investigation, Volume 10, Issue 3, Page 199-218, June 2026.
ABSTRACT Wheezing is a common respiratory symptom in infants and toddlers, and recurrent wheezing is a significant respiratory disorder affecting this age group. Given the multifactorial etiology of recurrent wheezing, clinical practice lacks standardized diagnostic and therapeutic protocols. Recent years have witnessed substantial progress in clinical
Committee of Pediatrics, China Medical Education Association, Cooperative Group of Asthma, the Subspecialty Group of Respiratory, the Society of Pediatrics, Chinese Medical Association, Pediatric Respiratory Work Committee, Society of Pulmonologists, Chinese Medical Doctor Association, Committee of Pediatrics, Chinese Research Hospital Association, Pediatric Professional Committee of the Chinese Non‐public Medical Institutions Association, Professional Committee of Children's Health and Pharmaceutical Research, China Association of Traditional Chinese Medicine, Children's Safe Medication Branch of China News of Drug Information Association, Pediatric Expert Committee of China Primary Health Care Foundation, China International Medical Foundation   +16 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source