Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.

CONCLUSION: We determined etiologies in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Nowadays, advanced molecular analyse can be utilized to establish a specific genetic diagnosis of PAI for patients who have no specific diagnostic features. PMID: 32938577 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Related Links:

Publication date: Available online 9 October 2020Source: Journal of OrthopaedicsAuthor(s): K. Siddarth Kamath, K.N. Jayakrishna, Ashwath Acharya, Anil K. Bhat
Source: Journal of Orthopaedics - Category: Orthopaedics Source Type: research
CONCLUSIONS: As the present study was the first investigation on the coagulation status in patients with AA, elevated D-dimer levels in alopecia areata may suggest a deficient coagulation in these patients that may contribute to an increase in the risk of thrombosis. Further studies are needed to evaluate this hypothesis using a larger sample size. PMID: 33034439 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
AbstractRheumatoid arthritis (RA) is a progressive autoimmune inflammatory disease affecting 1% of the population with three times as many women as men. As many as 86% of patients suffering from RA have cervical spine involvement. Synovial inflammation in the cervical spine causes instability and injuries including atlantoaxial subluxation, retroodontoid pannus formation, cranial settling, and subaxial subluxation. While many patients with cervical spine involvement are asymptomatic, symptomatic patients often present with nonspecific symptoms resulting from inflammation and additional secondary symptoms that are due to co...
Source: Neurosurgical Review - Category: Neurosurgery Source Type: research
This article reviews the recent advances of SFKs in B lymphocytes in autoimmune diseases.
Source: Inflammation - Category: Allergy & Immunology Source Type: research
ConclusionsWith the experience we gained from our recent studies, we think that miRNA-204 may be a significant biomarker in autoimmune diseases. Our study is the first study between IgAV and miRNAs in children. More studies are needed to reveal this relationship.Key Points•This is the first paper to show the relationship between miRNAs and childhood IgAV.•It will provide a new perspective to evaluate the pathogenesis of the disease.
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
Authors: Lu Y, Yang Q, Hu W, Dong J Abstract Type 1 diabetes (T1D) is one of the most common autoimmune diseases in children. Previous studies have suggested that endothelial progenitor cells (EPCs) might be engaged in the regulating of the biological processes in T1D and folic acid (FA) might be engaged in regulating EPC function. The present study has identified 716 downregulated genes and 617 upregulated genes in T1D EPC cases after treated with FA. Bioinformatics analysis has shown that these DEGs were engaged in regulating metabolic processes, cell proliferation-related processes, bone marrow development, cell...
Source: Computational and Mathematical Methods in Medicine - Category: Statistics Tags: Comput Math Methods Med Source Type: research
Conclusions: We conclude that TSLP may activate DC-SIGN-positive DCs directly, which may be involved in the pathogenesis of BP. PMID: 33029540 [PubMed - in process]
Source: Journal of Immunology Research - Category: Allergy & Immunology Tags: J Immunol Res Source Type: research
Authors: Min Y, Wang X, Chen H, Yin G Abstract Hashimoto's thyroiditis (HT) is the most prevalent autoimmune thyroid disease (ATD) worldwide and is strongly associated with miscarriage and even recurrent miscarriage (RM). Moreover, with a deepening understanding, emerging evidence has shown that immune dysfunctions caused by HT conditions, including imbalanced subsets of CD4+ T-helper cells, B regulatory (Breg) cells, high expression levels of CD56dim natural killer (NK) cells, and cytokines, possibly play an important role in impairing maternal tolerance to the fetus. In recent years, unprecedented progress has be...
Source: International Journal of Medical Sciences - Category: Biomedical Science Tags: Int J Med Sci Source Type: research
Conclusion: To the best of our knowledge, this is the first description of autoimmune adrenalitis in a patient with 3βHSD2 deficiency and suggests a possible association between AAD and inborn errors of the steroidogenesis.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
AbstractThe aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their files. The study population consisted of 120 children (73 boys, 47 girls) and comprised 904 patient years. Median age at diagnosis was 0.3  years (0–17.5). Thirty-one AC events in 26 children occurred during the study period, accounting for a frequency of 3.4 crises/100 patient years. Fifty-t...
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
More News: Addison's Disease | Adrenal Insufficiency | Autoimmune Disease | Children | Congenital Adrenal Hyperplasia | Endocrinology | Genetics | Laboratory Medicine | Pediatrics | Skin