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Compound heterozygous mutations (p.L68R∗37 and p.T241N) lead to abnormal protein levels and structures in hereditary FVII deficiency.
Blood Coagul Fibrinolysis
December 2024
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Jiangnan, Chongqing, China.
Background: Congenital factor VII (FVII) deficiency is a genetic disorder characterized by decreased FVII activity, which sometimes leads to fatal bleeding. Numerous variants have been found in FVII deficiency, but mutations vary among patients. Each mutation deserves further exploration for each patient at risk of bleeding.
View Article and Find Full Text PDFChild Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFHypermobile type Ehlers-Danlos syndrome and generalized hypermobile spectrum disorder treatment preferences - a cross-sectional survey of patients.
Rheumatol Int
January 2025
Department of Internal Medicine & Office of Research, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
We aimed to assess the typical experiences, desired outcomes, satisfaction with clinical and anticipated outcomes, and the importance of improvements for individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD). A cross-sectional survey was conducted among adults aged 18 and above with hEDS and G-HSD. The survey included the Patient-Centered Outcome Questionnaire and an adapted version addressing common concerns in these individuals.
View Article and Find Full Text PDFIntroduction: Fibular- and tibiofibular-based reconstructions are the gold standard treatment for posterolateral corner (PLC) injuries of the knee. This is the first report describing a wholly tibial-based PLC reconstruction.
Case Report: A 50-year-old female presented with knee instability following proximal fibular resection for a benign tumor, associated with chronic anterior cruciate ligament (ACL) deficiency from a previous injury.
Retrospective analysis of custom 3D-printed drill guides and titanium plate use in spinal stabilization of eleven dogs.
Front Vet Sci
December 2024
Veterinary Referral Hospital, Dandenong, VIC, Australia.
Introduction: Congenital vertebral malformations are common developmental abnormalities in screw-tailed brachycephalic dog breeds. Subsequent vertebral instability and/or vertebral canal stenosis caused by these malformations can lead to spinal cord compression manifesting in pain, paraparesis, ataxia and/or paralysis. Various methods for spinal stabilization are in common use.
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