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A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
Am J Med Genet A
January 2025
Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine & National Clinical Research Center for Child Health, Hangzhou, China.
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant genetic disorder characterized by specific clinical features, including dysmorphic facial traits, congenital heart defects, skeletal abnormalities, joint issues, and failure to thrive. The novelty of this case lies in the identification of a novel mutation in the ABL1 gene, expanding the genetic spectrum associated with this syndrome. A 5.
View Article and Find Full Text PDFMagnetic resonance imaging glenohumeral joint analysis before and after muscle transfer in children with obstetric brachial plexus palsy: a cross-sectional study of 10 cases.
Pan Afr Med J
January 2025
Department of Orthopedic Surgery, Habib Bourguiba University Hospital, Sfax, Tunisia.
This study aims to analyze the impact of muscle transfer on the glenohumeral joint in children with obstetric brachial plexus palsy (OBPP) using MRI by comparing preoperative and 5-year follow-up postoperative imaging findings to determine whether tendon transfers affect the alignment and configuration of the glenohumeral joint. Ten children with obstetric brachial plexus palsy (OBPP) participated in our prospective observational study, and we performed a tendon transfer technique. Every patient had an MRI of both shoulders done at preoperative and at the 5-year mark following the procedure.
View Article and Find Full Text PDFHigh-Throughput Zebrafish Screening Reveals Cardiotoxic Effects of Organophosphate Flame Retardants.
Environ Res
January 2025
International Research Center for Marine Biosciences, Shanghai Ocean University, Ministry of Science and Technology, Shanghai 201306, P.R. China; Key Laboratory of Exploration and Utilization of Aquatic Genetic Resources, Ministry of Science and Technology, Shanghai Ocean University, Shanghai 201306, P.R. China; Marine Biomedical Science and Technology Innovation Platform of Lin-gang Special Area, Shanghai 201306, P.R. China. Electronic address:
The toxicity of organophosphorus flame retardants (OPFRs) remains poorly understood, despite their widespread environmental presence and potential risks to human and ecological health. This study aimed to characterize the cardiovascular developmental toxicity of OPFRs using a high-throughput zebrafish screening model. Over thirty representative OPFRs, classified into three major groups-alkyl, aryl, and halogenated-were evaluated.
View Article and Find Full Text PDFGeneration of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1.
Stem Cell Res
January 2025
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers.
View Article and Find Full Text PDFReport of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
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