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Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFEvaluation of endocrine changes and insulin release in patients with hereditary spherocytosis.
J Paediatr Child Health
December 2024
Department of Physiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
Aim: To evaluate endocrinological changes and insulin secretion in patients with hereditary spherocytosis (HS).
Methods: The study included 30 patients with HS and 30 healthy control groups who were of similar age and gender. Routine tests, including hemogram, biochemical and hormonal tests were conducted on both patients with HS and the control group.
Risk of secondary autoimmune diseases with alemtuzumab treatment for multiple sclerosis: a systematic review and meta-analysis.
Front Immunol
May 2024
Rheumatology and Immunology Department, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, Shandong, China.
Article Synopsis
- - The study aims to analyze the risk of secondary autoimmune diseases in multiple sclerosis patients undergoing treatment with alemtuzumab by conducting a meta-analysis of relevant research.
- - A thorough search yielded 3530 papers, with 37 studies meeting the criteria for inclusion, revealing a pooled incidence rate of secondary autoimmune events at 28.24%.
- - Key findings indicated a significant incidence of autoimmune thyroid events, particularly Graves’ disease and Hashimoto thyroiditis, alongside a lower overall incidence of hematological events.
Thyroid and Adrenal Dysfunction in Hemoglobinopathies Before and After Allogeneic Hematopoietic Cell Transplant.
J Endocr Soc
November 2023
Cellular and Molecular Therapeutics Branch, National Heart, Lung, and Blood Institute/National Institutes of Health, Bethesda, MD 20892, USA.
Purpose: To determine the rate and clinical characteristics associated with abnormal thyroid and adrenal function in recipients of nonmyeloablative hematopoietic cell transplantation (HCT) for sickle cell disease (SCD) and beta-thalassemia.
Methods: We retrospectively reviewed patients who enrolled in 4 nonmyeloablative HCT regimens with alemtuzumab and total body irradiation (TBI). Baseline and annual post-HCT data were compared, which included age, sex, sickle phenotype, thyroid panel (total T3, free T4, thyroid stimulating hormone, antithyroid antibodies), cortisol level, ACTH stimulation testing, ferritin, medications, and other relevant medical history.
Associated Bacterial Coinfections in COVID-19-Positive Patients.
Medicina (Kaunas)
October 2023
Department of Microbiology, Faculty of Medicine, Multidiciplinary Research Center on Antimicrobial Resistance (MULTI-REZ), "Victor Babeș" University of Medicine and Pharmacy Timișoara, 2 Eftimie Murgu Sq., 300041 Timisoara, Romania.
: The aim of this study was to identify specific rhino- and oropharyngeal microbiological pathogens as well as associated comorbidities that favor SARS-CoV-2 infection and corelate them. : This prospective clinical study enrolled 61 patients (28 COVID-19-positive and 33 controls) who were tested for other comorbidities and co-existence of associated oral pathogenic microbiota. : A total of 247 bacterial isolates were identified in the bacterial cultures in both groups.
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