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Xiaojing Wang, Fan Ping, Cuijuan Qi, Xinhua Xiao
BACKGROUND: Autoimmune polyglandular syndrome type 2 (APS-2), also known as Schmidt's syndrome, is an uncommon disorder characterized by the coexistence of Addison's disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. Addison's disease as the obligatory component is potentially life-threatening. Unfortunately, the delayed diagnosis of Addison's disease is common owing to its rarity and the nonspecific clinical manifestation. METHODS: Here we reported a case of 38-year-old female patient who presented with 2 years' history of Hashimoto's thyroiditis and received levothyroxine replacement...
October 2016: Medicine (Baltimore)
Gabriela Barcenas-Morales, Peter Jandus, Rainer Döffinger
PURPOSE OF REVIEW: Concise overview of the field of anticytokine autoantibodies with a focus on recent developments. RECENT FINDINGS: Advances in particular in the analysis of autoantibodies to IFNγ, granulocyte-macrophage colony-stimulating factor (GM-CSF) and IFN-1 are presented. The target epitope for anti-IFNγ autoantibodies has been found to have high homology to a protein from Aspergillus suggesting molecular mimicry as a mechanism of breaking self-tolerance...
October 13, 2016: Current Opinion in Allergy and Clinical Immunology
Ivan Šterzl, Karolína Absolonová, Petr Matucha
Historically endocrinologists and psychiatrists are aware that disturbances in thyroid disease in beginning or even in clinically intensified states of thyrotoxicosis or hypothyroidism exhibit pathological mental manifestations, masking or potentiating the underlying disease. Immune system disorders cause thyroid organ-specific autoimmune process. This autoimmune thyroid disease binds with a number of disorders in both endocrine or non-endocrine organs. This appears in vascular, neurological, skin, connective tissue, gastrointestinal tract and mental pathology...
2016: Vnitr̆ní Lékar̆ství
Pratik Kishore, Bharti Sahni, Pratik Kishore
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Arun K Valsan, Amitabh Sagar
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Agnieszka Pazderska, Bergithe E Oftedal, Catherine M Napier, Holly F Ainsworth, Eystein S Husebye, Heather J Cordell, Simon Hs Pearce, Anna L Mitchell
CONTEXT: Autoimmune Addison's disease (AAD) is a rare but highly heritable condition. The BACH2 protein plays a crucial role in T lymphocyte maturation and allelic variation in its gene has been associated with a number of autoimmune conditions. OBJECTIVE: We aimed to determine whether alleles of the rs3757247 single nucleotide polymorphism (SNP) in the BACH2 gene are associated with AAD. DESIGN, SETTING AND PATIENTS: This case-control association study was performed in two phases using Taqman chemistry (Life Technologies)...
September 28, 2016: Journal of Clinical Endocrinology and Metabolism
Cheuk Wun Li, Roman Osman, Francesca Menconi, Erlinda S Concepcion, Yaron Tomer
Autoimmune polyglandular syndrome 3 variant (APS3v) refers to the co-occurrence of autoimmune thyroiditis (AITD) and type 1 diabetes (T1D) within the same individual. HLA class II confers the strongest susceptibility to APS3v. We previously identified a unique amino acid signature of the HLA-DR pocket (designated APS3v HLA-DR pocket) that predisposes to APS3v. We hypothesized that both thyroid and islet peptides can be presented by the unique APS3v HLA-DR pocket, triggering AITD + T1D together. To test this hypothesis we screened islet and thyroid peptides for their ability to bind to the APS3v HLA-DR pocket...
September 23, 2016: Journal of Autoimmunity
Emily Baumrin, Guy Webster, Victoria P Werth
No abstract text is available yet for this article.
October 2016: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
Valentina Perri, Elena Gianchecchi, Riccardo Scarpa, Mariella Valenzise, Maria Manuela Rosado, Ezio Giorda, Antonino Crinò, Marco Cappa, Susi Barollo, Silvia Garelli, Corrado Betterle, Alessandra Fierabracci
APECED is a T-cell mediated disease with increased frequencies of CD8+ effector and reduction of FoxP3+ T regulatory cells. Antibodies against affected organs and neutralizing to cytokines are found in the peripheral blood. The contribution of B cells to multiorgan autoimmunity in Aire-/- mice was reported opening perspectives on the utility of anti-B cell therapy. We aimed to analyse the B cell phenotype of APECED patients compared to age-matched controls. FACS analysis was conducted on PBMC in basal conditions and following CpG stimulation...
September 9, 2016: Immunobiology
Wei-Hsun Yang, Pau-Chung Chen, Ting-Chung Wang, Ting-Yu Kuo, Chun-Yu Cheng, Yao-Hsu Yang
Post-traumatic endocrine dysfunction is a complication of traumatic brain injury (TBI). However, there is lack of long-term follow-up and large sample size studies. This study included patients suffering from TBI registered in the Health Insurance Database. Endocrine disorders were identified using the ICD codes: 244 (acquired hypothyroidism), 253 (pituitary dysfunction), 255 (disorders of the adrenal glands), 258 (polyglandular dysfunction), and 259 (other endocrine disorders) with at least three outpatient visits within 1 year or one admission diagnosis...
2016: Scientific Reports
Aleksandra Krzewska, Iwona Ben-Skowronek
Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases developing in childhood. The incidence of the disease in children increases for unknown reasons at a rate from 3 to 5% every year worldwide. The background of T1DM is associated with the autoimmune process of pancreatic beta cell destruction, which leads to absolute insulin deficiency and organ damage. Complex interactions between environmental and genetic factors contribute to the development of T1DM in genetically predisposed patients...
2016: BioMed Research International
J A Cartwright, J Stone, M Rick, M D Dunning
A three-year-old, female neutered, Dobermann pinscher was presented for investigation of lethargy, episodic collapse, ataxia and myxoedema. Primary hypothyroidism and primary cortisol-deficient hypoadrenocorticism were diagnosed based on history, physical examination and compatible hormonal analysis. Increased serum concentrations of thyroglobulin autoantibodies and 21-hydroxylase autoantibodies indicated an immune-mediated aetiology. The case was complicated by lymphadenopathy with hand-mirror lymphocytes, classically identified in lymphoma...
September 2016: Journal of Small Animal Practice
Yoshiyuki Ban, Teruaki Tozaki, Yasuko Nakano
While the past genome-wide association study (GWAS) for autoimmune thyroid diseases (AITDs) was done in Caucasians, a recent GWAS in Caucasian patients with both AITD and type 1 diabetes [a variant of autoimmune polyglandular syndrome type 3 (APS3v)] identified five non-HLA genes: BCL2L15, MAGI3, PHTF1, PTPN22, and GPR103. The aim of our study was to replicate these associations with AITD in a Japanese population. Since analyzing the rs2476601 single-nucleotide polymorphism (SNP) within the PTPN22 gene revealed no polymorphism in the Japanese, we analyzed four SNPs, rs2358994 (in BCL2L15), rs2153977 (in MAGI3), rs1111695 (in PHTF1), and rs7679475 (in GPR103) genotypes in a case-control study based on 447 Japanese AITD patients [277 Graves' disease (GD) and 170 Hashimoto's thyroiditis (HT) patients] and 225 matched Japanese controls using the high-resolution melting and unlabeled probe methods...
2016: Frontiers in Endocrinology
Nisha Jose, George Prashanth Kurian
Autoimmune polyglandular syndrome type 2 also known as Schmidt syndrome. It is a rare disorder involving a combination of Addison's disease with autoimmune thyroid disease with or without type 1 diabetes mellitus. In this case report one such patient with this rare syndrome is described who presented with hyperpigmentation of knuckles, palms and soles with significant weight loss for 2 months. At presentation she also had severe hypercalcaemia. Severe hypercalcaemia is rare and hypercalcaemia at the initial presentation of Addison's disease is also unusual...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Zhiyuan Zhao, Jing Zou, Lingling Zhao, Yan Cheng, Hanqing Cai, Mo Li, Edwin Liu, Liping Yu, Yu Liu
The prevalence of celiac disease autoimmunity or tissue transglutaminase autoantibodies (TGA) amongst patients with type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) in the Chinese population remains unknown. This study examined the rate of celiac disease autoimmunity amongst patients with T1D and AITD in the Chinese population. The study included 178 patients with type 1 diabetes and 119 with AITD where 36 had both T1D and AITD, classified as autoimmune polyglandular syndrome type 3 variant (APS3v)...
2016: PloS One
Alessandra Fierabracci
Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age. While a high prevalence for this rare syndrome is reported in Finland and Scandinavia (Norway), autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) cohorts of patients are also detected in continental Italy and Sardinia, among Iranian Jews, as well as in other countries...
2016: International Journal of Molecular Sciences
Omar Bjanid, Piotr Adamczyk, Małgorzata Stojewska, Dagmara Roszkowska-Bjanid, Magdalena Paszyna-Grześkowiak, Agnieszka Jędzura, Joanna Oświęcimska, Katarzyna Ziora, Aurelia Morawiec-Knysak, Maria Szczepańska
A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia...
July 6, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Amitabh Sagar, Arun Valson, Manish Bhartiya
No abstract text is available yet for this article.
July 2016: Indian Journal of Endocrinology and Metabolism
Camilla H F Hansen, Leonid A Yurkovetskiy, Alexander V Chervonsky
Polyglandular autoimmune inflammation accompanies type 1 diabetes (T1D) in NOD mice, affecting organs like thyroid and salivary glands. Although commensals are not required for T1D progression, germ-free (GF) mice had a very low degree of sialitis, which was restored by colonization with select microbial lineages. Moreover, unlike T1D, which is blocked in mice lacking MyD88 signaling adaptor under conventional, but not GF, housing conditions, sialitis did not develop in MyD88(-/-) GF mice. Thus, microbes and MyD88-dependent signaling are critical for sialitis development...
August 1, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Sikarin Upala, Wai Chung Yong, Anawin Sanguankeo
CONTEXT: Autoimmune polyglandular syndrome is a rare condition that causes a variety of clinical symptoms due to autoimmune processes involving multiple endocrine organs. Its vague presentation can cause missed or delayed treatment for adrenal insufficiency, resulting in a life-threatening adrenal crisis. CASE REPORT: A 21-yr-old man presented with lethargy, hypotension, hyponatremia, hypoglycemia, and an elevated thyroid-stimulating hormone level. He was binge drinking the day before presentation...
May 2016: North American Journal of Medical Sciences
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