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Immune Gene Expression Profiling in Individuals with Turner Syndrome, Graves' Disease, and a Healthy Female by Single-Cell RNA Sequencing: A Comparative Study.
Cells
January 2025
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.
View Article and Find Full Text PDFTHE SERUM CREATININE TO CYSTATIN RATIO IN THYROTOXICOSIS PATIENTS: A CASE-CONTROL STUDY.
Acta Endocrinol (Buchar)
January 2025
Zigong Fourth People's Hospital, Department of Endocrinology, Zigong, Sichuan, China.
Context: Previous studies have demonstrated a correlation between creatinine and cystatin levels and thyroid disorders.
Objective: To further investigate the diagnostic value of serum creatinine to cystatin C ratio in the diagnosis of thyrotoxicosis.
Design: One hundred eighty four thyrotoxicosis patients and 406 healthy controls were enrolled.
An Unusual and Severe Thyrotoxicosis in a Twin Pregnancy: Fortune Favors the Brave.
Case Rep Endocrinol
January 2025
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Graves' disease (GD) and gestational transient thyrotoxicosis (GTT) are the most common causes of thyrotoxicosis during pregnancy, with prevalence ranging from 0.1% to 1% and from 1% to 3%, respectively. Hyperthyroidism during pregnancy can have severe consequences if not promptly recognized and treated.
View Article and Find Full Text PDFSevere immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.
Biomedica
December 2024
Servicio de Inmunología y Alergología, Fundación Universitaria Ciencias de la Salud - FUCS, Bogotá, D. C., Colombia.
Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast's excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells.
View Article and Find Full Text PDFFirst part. A 45-year-old man with severe pneumonia, disseminated cytomegalovirus infection, and agammaglobulinemia.
Biomedica
December 2024
Departamento de Microbiología, Facultad de Salud, Universidad del Valle, Cali, Colombia; Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
A 45-year-old male patient presented with a persistent cough lasting four months, accompanied by fever and significant weight loss. A chest computed tomography revealed cryptogenic pneumonia, and subsequent investigations identified a positive cytomegalovirus (CMV) viral load in bronchoalveolar lavage. A transbronchial biopsy confirmed intranuclear basophilic inclusions indicative of CMV infection.
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