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A 7-year delayed diagnosis in a case of spinal muscular atrophy.
Brain Dev
January 2025
Department of Pediatrics, Aichi Medical University School of Medicine, Nagakute, Japan.
Background: Most cases of spinal muscular atrophy (SMA) can be diagnosed by copy number analysis of survival motor neuron (SMN) 1. However, a small number of cases of SMA can only be diagnosed by sequencing analysis. We present a case of SMA diagnosed 7 years after the onset of symptoms.
View Article and Find Full Text PDFMandibular lateral ectopia: A rare case presentation.
Natl J Maxillofac Surg
November 2024
Department of Oral and Maxillofacial Surgery, Mamata Dental College, Khammam, Telangana, India.
Ectopic thyroid is a rare congenital anomaly that results from failure of decent from the foramen cecum to the primitive thyroid during the stage of embryogenesis. The specific prevalence ranges from 1 in 100,000-300,000 population. Development, genetics, and mutation play a role in the formation of ectopic thyroid.
View Article and Find Full Text PDFSelective diet induced nutritional optic neuropathy in developmentally normal children.
Am J Ophthalmol Case Rep
March 2025
Department of Ophthalmology, Boston Children's Hospital, 300 Longwood Ave, Fegan 4, Boston, MA, 02115, USA.
Purpose: Nutritional deficiencies in developed countries are a rare but potentially intervenable cause of optic neuropathy in pediatric populations. To date, much of the literature on nutritional optic neuropathy has focused on children with developmental delay, however, a growing body of evidence supports other underreported risk factors.
Observations: We describe three pediatric patients with normal neurodevelopment, who presented with decreased vision and were subsequently found to have optic neuropathy attributed to vitamin deficiencies, predominantly vitamin B12.
Botulinum Therapy for Pain Caused by Spasticity in Advanced Stages of Brain Tumor in Adolescents: A Case Report.
Clin Med Insights Case Rep
January 2025
Department of Rehabilitation, Nara Prefectural General Medical Center, Nara, Japan.
Background: Spasticity is an upper motor neuron syndrome that exacerbates motor paralysis and is rarely associated with pain. This report elucidates the management of drug-resistant pain attributed to an adolescent brain tumor using botulinum therapy.
Case Presentation: A 15-year-old female patient experienced dizziness, developed muscle weakness in her upper extremities, and was diagnosed with diffuse glioblastoma of the pons.
A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss.
Am J Med Genet A
January 2025
Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Zhengzhou, China.
Hearing loss is one of the conditions characterized by a high degree of genetic heterogeneity, and whole exome sequencing (WES) serves as a key method for identifying pathogenic variants. To date, 155 genes have been reported to be associated with nonsyndromic hearing loss. Recently, a study by Velde et al.
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