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Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Neurogenetics
December 2024
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.
View Article and Find Full Text PDFSemi-segmented lumbar supernumerary hemivertebra resection in congenital scoliosis: a case report.
J Med Case Rep
December 2024
"Carol Davila" University of Medicine and Pharmacology, Bucharest, Romania.
Background: Congenital scoliosis with progressive potential is a controversial subject in early-onset spinal deformities. The presence of a hemivertebra may produce severe spinal deformities. The evolution of a scoliotic curve in these cases is unpredictable and requires careful follow-up dependent on multiple variables, such as the location of the hemivertebra, the age of the patient at the time of diagnosis, and the degree of deformity already present in both sagittal and frontal planes.
View Article and Find Full Text PDFClinical and genetic characterization of patients with late onset Wilson's disease.
NPJ Genom Med
December 2024
Experimental Center of Clinical Research, the First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Wilson's disease (WD) typically manifests in children and young adults, with little knowledge of its late-onset forms. In this study, we performed a retrospective cohort study of 105 WD patients (99 index cases, 6 siblings) with an onset age ≥35 years. We compared 99 index late-onset patients with 1237 early-onset patients and analyzed the ATP7B variant penetrance referring to the Genome Aggregation Database (gnomAD).
View Article and Find Full Text PDFVitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.
Pediatr Dermatol
December 2024
Paediatric Endocrinology Division, Department of Paediatrics, Christian Medical College Vellore, Vellore, Tamil Nadu, India.
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.
View Article and Find Full Text PDFTrends, age shifts, and potential delayed peaks post-pandemic of early-onset brain and central nervous system cancers in individuals aged 20-49: a cross-sectional study.
Int J Surg
December 2024
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China.
Background: Central nervous system (CNS) cancers are highly lethal and increasingly affect younger populations aged 20-49, posing significant challenges to global healthcare systems. Current research on early-onset CNS cancer trends is limited and outdated, with uncertain impacts from the COVID-19 pandemic. This study explores the epidemiology of early-onset CNS cancer and the pandemic's effects.
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