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Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFThe role of the axonal guidance cue Semaphorin3A in innervation of the postnatal heart in health and disease.
Can J Cardiol
December 2024
Dept. of Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
During cardiac development the heart is innervated by the autonomous nervous system. After development, neurons of the autonomic nervous system have limited capacity for growth and regeneration. However, in the past decades, it has become clear that cardiac nerves can regenerate after cardiac damage.
View Article and Find Full Text PDFThe Pseudoinflammatory Pattern Revisited.
J Cutan Pathol
November 2024
Section of Dermatology, The University of Chicago Medicine, Chicago, Illinois, USA.
In 1973, Dr. Martin C. Mihm, Jr.
View Article and Find Full Text PDFPacinioma of Lumbosacral Skin in Closed Spinal Dysraphism.
J Cutan Pathol
January 2025
Department of Pathology and Laboratory Medicine, College of Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.
Closed spinal dysraphism (CSD) is a congenital condition caused by a failure in secondary neurulation during embryogenesis. CSD is associated with characteristic cutaneous stigmata often identified clinically. Rarely, such stigmata have been reported to occur with complex congenital intraspinal lipomas containing Pacinian corpuscle hyperplasia.
View Article and Find Full Text PDFManagement of cloacal exstrophy: Experience from tertiary hospital, Tanzania. Case series.
Int J Surg Case Rep
November 2024
Department of Surgery, School of Medicine, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Introduction And Importance: Cloacal exstrophy (CE) is defined as a complex anomaly that affects the urogenital and intestinal tracts. It is the most serious form of anomaly that is described within the so-called exstrophy-epispadias complex. These malformations usually present a challenge in the management of particular conditions, as most of these forms require multiple surgeries, resulting in the use of multidisciplinary approaches, including reconstructive urologists, pediatric surgeons, orthopedic surgeons, endocrinologists, pediatricians, psychologists and nutritionists.
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