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Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.
Cureus
December 2024
Laboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.
X-linked severe combined immunodeficiency disease (X-SCID) is a form of inborn errors of immunity (IEI) associated with causal DNA variants of the gene. Patients with X-SCID are characterized by a combination of cellular and humoral immunodeficiencies associated with increased susceptibility to infections. The presented cases constituted two unrelated male patients from the Slovak population.
View Article and Find Full Text PDFA case of F-FDG PET/MR facilitates early diagnosis of anti-GFAP encephalitis disease.
Neurol Sci
January 2025
Department of Infectious Diseases, Shenzhen Nanshan People's Hospital, Shenzhen University Medical School, Shenzhen, 518052, China.
Background: Glial fibrillary acidic protein (GFAP) astrocytosis is a rare autoimmune encephalitis discovered in the last decade. The diagnosis depends on clinical symptoms, imaging, and antibody testing. However, most cases require several months or even longer to make a definite diagnosis.
View Article and Find Full Text PDFAnti-Amyloid Therapies for Alzheimer's Disease and Amyloid-Related Imaging Abnormalities: Implications for the Emergency Medicine Clinician.
Ann Emerg Med
January 2025
Departments of Emergency Medicine & Population Health, New York University Grossman School of Medicine, New York, NY; Geriatric Research, Education and Clinical Center, James J. Peters Veterans Affairs Medical Center, Bronx, NY.
Alzheimer's disease is the neurodegenerative disorder responsible for approximately 60% to 70% of all cases of dementia and is expected to affect 152 million by 2050. Recently, anti-amyloid therapies have been developed and approved by the Food and Drug Administration as disease-modifying treatments given as infusions every 2 to 5 weeks for Alzheimer's disease. Although this is an important milestone in mitigating Alzheimer's disease progression, it is critical for emergency medicine clinicians to understand what anti-amyloid therapies are and how they work to recognize, treat, and mitigate their adverse effects.
View Article and Find Full Text PDFImmunotherapy-related secondary hemophagocytosis in a glioblastoma patient: response to cytokine-directed therapy.
Immunotherapy
January 2025
Department of Internal Medicine, Division of Medical Oncology, Koc University School of Medicine, Istanbul, Türkiye.
Hemophagocytic Lymphohistiocytosis (HLH) is a severe and potentially life-threatening condition characterized by an excessive and uncontrolled activation of the immune system. ICI-related hemophagocytic lymphohistiocytosis (irHLH) is a rare immune-related adverse event with an incidence of 0.03% to 0.
View Article and Find Full Text PDFEvaluation of physical activity with the International Physical Activity Questionnaire among outpatients with type 2 diabetes mellitus in Japan.
J Rural Med
January 2025
Health Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Japan.
Objective: This study aimed to investigate the amount of physical activity, including daily movement, and the factors related to the amount of physical activity undertaken by patients with type 2 diabetes mellitus at an outpatient clinic.
Patients And Methods: A self-administered questionnaire was distributed to 111 patients, aged 20 years or older, with type 2 diabetes mellitus, who visited a diabetes outpatient clinic. The amount of physical activity was investigated using the International Physical Activity Questionnaire-Long Version.
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