Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.reuma.2020.02.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
Case Rep Genet
January 2025
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, 2825 50th Street, Davis, Sacramento 95817, California, USA.
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.
View Article and Find Full Text PDFRed flags to suspect inborn errors of immunity in patients with autoimmune diseases.
Biomedica
December 2024
Grupo de Inmunología Celular y Molecular - InmuBo, Universidad El Bosque, Bogotá, D. C., Colombia; Reumatología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Grupo de Inmunología, Escuela de Medicina, Universidad Militar Nueva Granada, Bogotá, D. C., Colombia; Departamento de Reumatología e Inmunología, Hospital Militar Central, Bogotá, D. C., Colombia.
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases, are increasingly recognized as phenotypes of inborn errors of immunity. The objective of this article was to identify red flags or clinical/laboratory markers to suspect inborn errors of immunity in patients with autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel diseases through a systematic literature review.
View Article and Find Full Text PDFZebrafish modeling of atypical PML-RARA isoform from acute promyelocytic leukemia patient and its implications for clinical treatment.
Ann Hematol
January 2025
Department of Hematology, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou, 510180, China.
Acute promyelocytic leukemia (APL) is driven by the specific fusion gene PML-RARA produced by chromosomal translocation. Three classic isoforms, L, V, and S, are found in more than 95% of APL patients. However, atypical PML-RARA isoforms are usually associated with uncertain disease progression and treatment prognosis.
View Article and Find Full Text PDFUncommon metastatic journey: unusual breast metastases of medullary thyroid carcinoma: a case report.
BMC Womens Health
January 2025
Department of Surgical Oncology, Salah Azaiez Institute, Faculty of Medicine of Tunis, University of Tunis El Manar, Boulevad 9 Avril Bab Saadoun 1006, Tunis, Tunisia.
Medullary thyroid carcinoma is a neuroendocrine tumor derived from thyroid C-cells. It is a rare aggressive tumor, known to metastasize to lymph nodes, liver, bones, and lungs. We report a case of a young patient with a family history of breast cancer, who developed breast metastases six months post-treatment for medullary thyroid carcinoma.
View Article and Find Full Text PDFProgressive supranuclear palsy: an updated approach on diagnosis, treatment, risk factors and outlook in Mexico.
Gac Med Mex
January 2025
Laboratorio de Reprogramación Celular y Enfermedades Crónico-Degenerativas, Department of Physiology, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Progressive supranuclear palsy (PSP) is a rare, atypical parkinsonism, characterized by the presence of intracerebral tau protein aggregates and determined by a wide spectrum of clinical features. The definitive diagnosis is postmortem and is identified through the presence of neuronal death, gliosis, and aggregates of the tau protein presented in the form of neurofibrillary tangles (MNF) with a globose appearance in regions such as the subthalamic nucleus, the substantia nigra, and the globus pallidus The findings in ancillary imaging studies, as well as fluids biomarkers, are not sufficient to support diagnosis of PSP but are used to rule out similar pathologies because there are still no specific or validated biomarkers for this disease. The current treatment of PSP is focused on reducing symptoms, although emerging therapies seek to counteract its pathophysiological mechanisms.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!