Causal effect of thyroid function on cortical brain structure: A two-sample Mendelian randomization study.
The causal relationship between variations in thyroid dysfunction and brain structure remains elusive. We intended to probe into this causal connection using a Mendelian randomization (MR) approach. Aggregated statistics from the genome-wide Association Study (GWAS) on Autoimmune thyroid dysfunction…
CCDC77 and SLC45A3 mediate the genetic mechanism of Hashimoto's thyroiditis through IL-6.
Hashimoto's thyroiditis (HT) is a common autoimmune thyroid disorder with a complex genetic background. Interleukin-6 (IL-6) has been implicated in its pathogenesis, but the genetic mechanisms remain unclear. Two-sample Mendelian randomization (MR) using expression quantitative trait loci (eQTL) and…
Suggestive causal associations between 17 autoimmune diseases and pancreatitis: A two-sample Mendelian randomization study.
The relationship between different autoimmune diseases (ADs) and pancreatitis has been reported in epidemiological studies. This study systematically investigated the causal effects of ADs factors on pancreatitis using Mendelian randomization (MR). We selected 17 common ADs as exposures from the lar…
Do not stop at the variant: a reversible cause of small-fiber neuropathy symptoms in an ATTRv carrier.
Presymptomatic genetic testing in relatives of hereditary transthyretin amyloidosis (ATTRv) index cases enables early carrier identification and timely treatment, but a confirmed pathogenic variant carries the risk of premature diagnostic closure when new symptoms arise. A 25-year-old asymptomatic c…
The Immunological Intersection of Psoriasis and Autoimmune Diseases: Shared Pathways and Clinical Implications.
Psoriasis is a chronic inflammatory disease associated with multiple autoimmune conditions. This article reviews the relationship between psoriasis and autoimmune blistering dermatoses, vitiligo, alopecia areata, autoimmune thyroid disorders, systemic lupus erythematosus, and celiac disease, highlig…
Beyond glycaemic control: autoimmune polyglandular syndrome type 3 as an emerging distinct entity rather than a mere comorbidity in paediatric type 1 diabetes.
Autoimmune polyglandular syndrome type 3 (APS-3) is the coexistence of autoimmune thyroid disease (AITD) with type 1 diabetes (T1D) or other autoimmune diseases, after exclusion of adrenal insufficiency. We aimed to evaluate the prevalence, timeline and features of APS-3 in children and adolescents…
Long-term rheumatologic comorbidities in familial Mediterranean fever.
Familial Mediterranean fever (FMF) is characterized by pyrin inflammasome dysregulation and chronic subclinical inflammation. Whether FMF carries an increased long-term burden of rheumatologic and autoimmune inflammatory disease is unclear. We evaluated baseline and long-term occurrence of rheumatol…
Assessing the Role of Patient-Physician Sex Concordance on Diagnostic Accuracy in Primary Care: A Randomized Factorial Survey Experiment.
While the impact of patient-physician sex concordance on patient perceptions and outcomes has been studied, less is known about its influence on diagnostic accuracy in primary care. Examine whether patient-physician sex concordance affects diagnostic accuracy among primary care physicians (PCPs…