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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.
Incidental 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.
Restoring hematopoietic stem and progenitor cell function in mice by delivery of RNA lipid nanoparticles.
Mol Ther Nucleic Acids
March 2025
Comprehensive Bone Marrow Failure Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Fanconi anemia (FA) is a congenital multisystem disorder characterized by early-onset bone marrow failure (BMF) and cancer susceptibility. While gene addition and repair therapies are being considered as treatment options, depleted hematopoietic stem cell (HSC) pools, poor HSC mobilization, compromised survival during transduction, and increased sensitivity to conventional conditioning strategies limit eligibility for FA patients to receive gene therapies. As an alternative approach, we explored protein replacement by mRNA delivery via lipid nanoparticles (LNPs).
View Article and Find Full Text PDFFat droplets in the cerebrospinal fluid (CSF) spaces of the brain.
AIMS Neurosci
November 2024
Clinical Sciences, California Northstate University College of Medicine, Elk Grove, CA, USA.
It is rare to find free floating fat droplets in the cerebral spinal fluid (CSF) spaces of the brain. When fat droplets are seen in the CSF spaces, the most common cause is the rupture of a dermoid cyst. Dermoid cysts are congenital inclusion cysts that form during the neural tube closure between the third and fifth weeks of embryogenesis.
View Article and Find Full Text PDFKyphectomy followed by self-sliding pedicle screw and translumbosacral rod impaction and fixation: a novel growth-friendly technique in myelomeningocele patients.
Spine Deform
January 2025
Pediatrics and Neurosurgery, Cedars Sinai Medical Center, Los Angeles, CA, USA.
Introduction: Congenital lumbar kyphosis is present in about 15% of patients with myelomeningocele. Worsening of deformity with complications such as chronic skin ulcers and bone exposure is common. In patients under 8 years of age, treatment becomes even more challenging: in addition to resecting the apex of the kyphotic deformity, we should ideally stabilize the spine with fixation methods that do not interrupt the growth of the rib cage, associated with the challenging pelvic fixation in this population.
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