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Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Parents' views and experiences of raising babies born with cleft lip and palate: a qualitative study.
BMC Pediatr
January 2025
Research Center for Caries Prevention, Dentistry Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Parents of children born with cleft lip/palate encounter numerous challenges. This study aims to provide a deeper understanding for authorities to better support these parents by exploring the views and experiences of Iranian parents raising babies with cleft lip/palate through qualitative research.
Methods: This qualitative study collected data through face-to-face, in-depth, semi-structured interviews.
Congenital urethral diverticulum with a large stone in a 16-year-old male: a case report.
BMC Urol
January 2025
Department of Urology, Hama National Hospital, Hama, Syria.
Background: Urethral diverticulum is a sac-like dilation that extends from the urethral lumen and is connected to it. It can either be congenital or acquired, with the latter being more common. The development of calculi is rare in such patients.
View Article and Find Full Text PDFIncidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Prenat Diagn
January 2025
Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d'Hebron, Institut Català de la Salut, Barcelona, Spain.
Objective: The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Method: A retrospective review of 4219 consecutive prenatal microarrays performed within the network from 2018 to 2023 was conducted, including all referral reasons. To develop consensus recommendations, several discussion meetings were held along with an extensive review of the existing literature.
Practical approach to extracardiac findings in CT and MR for the non-radiologist.
Pediatr Radiol
January 2025
Department of Radiology, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Cross-sectional cardiac imaging plays an essential role in the evaluation of pediatric patients with congenital and acquired heart disease. While the focus of cardiac imaging is primarily on evaluating cardiac structures, it also provides valuable insights into extracardiac structures and associated abnormalities. The radiologists and cardiologists interpreting these exams play a critical role in recognizing these findings and providing recommendations for follow-up testing when indicated.
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