Tuberous sclerosis (TS) is an autosomal-dominant disorder characterized by a variety of hamartomatous lesions in various organs. Various organ involvements can be detected with radiology: neurologic involvement (cortical tubers, subependymal nodules and white matter abnormalities), renal involvement (angiomyolipoma) and pulmonary involvement (pulmonary lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia). Here, we are reporting a case of tuberous sclerosis with multiple organ involvement and massive bilateral AMLs in a 49-year-old female patient.
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Frontal lobe intra-axial schwannoma harboring a CHD7::VGLL3 fusion and heterozygous TSC2 p.F1510del mutation in a young child.
Mol Biol Rep
January 2025
Department of Pathology and Laboratory Medicine, Baylor Scott and White Medical Center, Baylor College of Medicine, Temple, TX, USA.
Background: Brain intraparenchymal schwannoma is a rare clinical entity, generally curable with adequate resection.
Methods And Results: We describe a case in a male patient first presenting at 19 months of age, the youngest reported age for this lesion. It also appears to be the first case connected to a germline TSC2 p.
Repeated sevoflurane exposure causes hypomyelination in the prefrontal cortex of adult male mice.
Sci Rep
January 2025
Department of Anesthesiology, Affiliated Hospital of Zunyi Medical University, Zunyi, 563000, China.
As one of the most commonly used general anesthetics (GAs) in surgery, numerous studies have demonstrated the detrimental effects of sevoflurane exposure on myelination in the developing and elderly brain. However, the impact of sevoflurane exposure on intact myelin structure in the adult brain is barely discovered. Here, we show that repeated sevoflurane exposure, but not single exposure, causes hypomyelination and abnormal ultrastructure of myelin sheath in the prefrontal cortex (PFC) of adult male mice, which is considered as a critical brain region for general anesthesia mediated consciousness change.
View Article and Find Full Text PDFUtility of word embeddings from large language models in medical diagnosis.
J Am Med Inform Assoc
January 2025
Kennewick, WA 99338, United States.
Objective: This study evaluates the utility of word embeddings, generated by large language models (LLMs), for medical diagnosis by comparing the semantic proximity of symptoms to their eponymic disease embedding ("eponymic condition") and the mean of all symptom embeddings associated with a disease ("ensemble mean").
Materials And Methods: Symptom data for 5 diagnostically challenging pediatric diseases-CHARGE syndrome, Cowden disease, POEMS syndrome, Rheumatic fever, and Tuberous sclerosis-were collected from PubMed. Using the Ada-002 embedding model, disease names and symptoms were translated into vector representations in a high-dimensional space.
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.
Epidemiol Serv Saude
January 2025
Universidade Positivo, Departamento de Medicina, Curitiba, PR, Brazil.
Objective: To analyze the first referral service for rare diseases accredited by the Brazilian Ministry of Health, focusing on referral from the primary healthcare network through to diagnosis.
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A Distinctive Plaque in a Tuberous Sclerosis Patient.
Pediatr Dermatol
January 2025
Department of Dermatology, Venereology and Leprology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
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