Proteomics of Orbital Tissue in Thyroid-Associated Orbitopathy.

Context: A potentially altered protein expression profile in orbital tissue from patients with thyroid-associated orbitopathy (TAO) is suspected.

Objective: To detect for the first time changes in proteomic patterns of orbital connective tissue in TAO and compare these with control tissue using mass spectrometry.

Design: Proteomics cross-sectional, comparative study.

HLA Class II Differentiates Between Thyroid and Polyglandular Autoimmunity.

The HLA class II genes are susceptibility genes for autoimmune endocrine diseases; however, scarce data are available pertaining to the determinants of genetic susceptibility to polyglandular autoimmunity (PGA). A total of 300 consecutive and unselected patients with either PGA or monoglandular autoimmune thyroid disease (AITD) and 100 healthy control subjects were genotyped for the HLA class II DRB1, -DQA1, and -DQB1 alleles. Compared to patients with AITD and controls, the HLA-DRB1*03 (pc =0.

Prevalence, Phenotype, and Psychosocial Well-Being in Euthyroid/Hypothyroid Thyroid-Associated Orbitopathy.

Background: At the onset of thyroid-associated orbitopathy (TAO), most patients are hyperthyroid, while scarce data are available on euthyroid/hypothyroid TAO. The aim of this study was to assess the prevalence, phenotype, and psychosocial burden of patients with initially euthyroid/hypothyroid TAO.

Methods: The medical records of 461 consecutive and unselected patients with TAO followed at a specialized joint thyroid-eye clinic were analyzed within this retrospective cross-sectional study.

Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes.

Autoimmune thyroid diseases (AITD) and Type 1 diabetes (T1D) frequently occur in the same individual pointing to a strong shared genetic susceptibility. Indeed, the co-occurrence of T1D and AITD in the same individual is classified as a variant of the autoimmune polyglandular syndrome type 3 (designated APS3v). Our aim was to identify new genes and mechanisms causing the co-occurrence of T1D + AITD (APS3v) in the same individual using a genome-wide approach.

Proteomics Differentiate Between Thyroid-Associated Orbitopathy and Dry Eye Syndrome.

Purpose: In patients with thyroid-associated orbitopathy (TAO), the dry eye syndrome occurs frequently, and symptoms and signs of both disorders overlap making early and accurate differential diagnosis difficult. A differentiation via specific markers is warranted.

Methods: Tear fluid samples of 120 subjects with TAO, TAO + dry eye, dry eye, and controls were collected.

Thyroid-stimulating immunoglobulins indicate the onset of dysthyroid optic neuropathy.

Purpose: Recognition of dysthyroid optic neuropathy (DON) requires sensitive diagnostic tools. Clinical assessment may fail to reliably evaluate the acuteness of DON especially if signs for inflammation are missing. Aim of this cross-sectional study was to assess the relationship between thyroid-stimulating immunoglobulins (TSI) and onset of DON.

Type 1 diabetes and polyglandular autoimmune syndrome: A review.

Type 1 diabetes (T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1D as a monoglandular disease and the relation to polyglandular autoimmune syndrome (PAS) have also been well explored.

[The polyglandular autoimmune syndrome--quality of life and family clustering].

Background And Aim: For patients with polyglandular autoimmune syndrome (PGA), data pertaining to familial clustering and quality of life are missing. Therefore, we performed a prospective and controlled study to collect this information.

Patients And Methods: Clinical and serological evaluation of 75 consecutively recruited patients with PGA (mean age 47,5 ± 15,3 years; 65,3% women) and their 108 relatives (mean age 33,13 ± 20,08 years; 65,7% women) was performed.

HLA class II haplotypes differentiate between the adult autoimmune polyglandular syndrome types II and III.

Background: Genetics of the adult autoimmune polyglandular syndrome (APS) is poorly understood.

Aim: The aim of this study was to gain further insight into the genetics of the adult APS types. SITE: The study was conducted at a university referral center.

Proteomics of tear fluid in thyroid-associated orbitopathy.

Background: Proteomics and mass spectrometry are useful tools for peptide screening in body fluids. In thyroid-associated orbitopathy (TAO), evidence for lacrimal gland involvement with altered composition of tears has been reported. Our objective was to detect and evaluate potential changes in the proteomic patterns of tear fluid in TAO.

Autoimmune polyglandular syndrome type 2 shows the same HLA class II pattern as type 1 diabetes.

Autoimmune polyglandular syndrome (APS) type 2 is defined by the manifestation of at least two autoimmune endocrine diseases. Only few data exist on genetic associations of APS type 2. In this controlled study, 98 patients with APS type 2, 96 patients with type 1 diabetes (T1D), and 92 patients with autoimmune thyroid disease, both as a single autoimmune endocrinopathy, were tested for association with alleles of the human leukocyte antigen (HLA) class II loci DRB1, DQA1, and DQB1.

Impaired psychometric testing in polyglandular autoimmunity.

Objective: Patients with the autoimmune polyglandular syndrome (APS) could be exposed to many limitations in daily life owing to their illness. To quantify the degree of physical and emotional distress, the psychometric profile of these patients was evaluated prospectively.

Design, Patients And Measurements: After a complete endocrine investigation, three international validated self-assessment questionnaires were applied in 75 patients with APS: the health-related quality of life Short-Form 36 (SF-36), the Giessen Complaint List (GBB-24) and the Hospital Anxiety and Depression Scale (HADS).

A novel thyroid stimulating immunoglobulin bioassay is a functional indicator of activity and severity of Graves' orbitopathy.

Context: Immunoglobulins stimulating the TSH receptor (TSI) influence thyroid function and likely mediate extrathyroidal manifestations of Graves' disease (GD).

Objectives: The aim of this study was to assess the clinical relevance of TSI in GD patients with or without Graves' orbitopathy (GO), to correlate the TSI levels with activity/severity of GO, and to compare the sensitivity/specificity of a novel TSI bioassay with TSH receptor (TSH-R) binding methods (TRAb).

Design: TSI were tested in two reporter cell lines designed to measure Igs binding the TSH-R and transmitting signals for cAMP/CREB/cAMP regulatory element complex-dependent activation of luciferase gene expression.

CTLA-4 CT60 polymorphism in thyroid and polyglandular autoimmunity.

Autoimmune thyroid diseases (AITDs) frequently occur together with other endocrine autoimmune conditions, denominated as polyglandular autoimmunity (PGA). The cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene was recently associated with AITD and PGA, and the CTLA-4 protein is a strong inhibitor of T-cells.The tumor necrosis factor alpha (TNF-alpha) is a proinflammatory cytokine.

Proteomics in autoimmune thyroid eye disease.

Ocular and systemic autoimmune diseases impair the proteome patterns of tear fluid. To learn more about the complex pathological processes in autoimmune thyroid eye disease (TED) it is essential to get detailed information on these proteins. Therefore, the purpose of this prospective and controlled study was to detect and evaluate possible changes in the proteomic patterns in tear fluid of patients with TED.

The protein tyrosine phosphatase non-receptor type 22 C1858T polymorphism is a joint susceptibility locus for immunthyroiditis and autoimmune diabetes.

Background: The lymphoid tyrosine phosphatase (LYP) encoded by the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene is a strong inhibitor of T cells. The single nucleotide polymorphism (SNP) C1858T within the PTPN22 gene was recently associated with autoimmune thyroid disease (AITD) and type I diabetes (T1D). The purpose of this study was to examine the joint association of this polymorphism with the co-occurrence of AITD and T1D.

A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity.

A deficiency in the DNase enzyme, and thereby, a failure to remove DNA from nuclear antigens promotes disease susceptibility to autoimmune disorders. This study examined in patients with autoimmune thyroid disease (AITD) whether a reduced DNase activity is associated with sequence variations in the DNASE1 gene. The study included 18 patients with AITD, their 10 relatives, and 111 unrelated healthy controls.

Activation tagging in tomato identifies a transcriptional regulator of anthocyanin biosynthesis, modification, and transport.

We have developed a high-throughput T-DNA insertional mutagenesis program in tomato using activation tagging to identify genes that regulate metabolic pathways. One of the activation-tagged insertion lines (ant1) showed intense purple pigmentation from the very early stage of shoot formation in culture, reflecting activation of the biosynthetic pathway leading to anthocyanin accumulation. The purple coloration resulted from the overexpression of a gene that encodes a MYB transcription factor.