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Roberto Perniola
About two decades ago, cloning of the autoimmune regulator ( AIRE ) gene materialized one of the most important actors on the scene of self-tolerance. Thymic transcription of genes encoding tissue-specific antigens (ts-ags) is activated by AIRE protein and embodies the essence of thymic self-representation. Pathogenic AIRE variants cause the autoimmune polyglandular syndrome type 1, which is a rare and complex disease that is gaining attention in research on autoimmunity. The animal models of disease, although not identically reproducing the human picture, supply fundamental information on mechanisms and extent of AIRE action: thanks to its multidomain structure, AIRE localizes to chromatin enclosing the target genes, binds to histones, and offers an anchorage to multimolecular complexes involved in initiation and post-initiation events of gene transcription...
2018: Frontiers in Immunology
Toshie Iijima, Takafumi Niitani, Seiichi Tanaka, Kazunori Yanagi, Teruo Jojima, Kunihiro Suzuki, Isao Usui, Yoshimasa Aso
We describe a very rare case of concurrent variant type 3 autoimmune polyglandular syndrome (APS) and pulmonary arterial hypertension (PAH). A previously healthy 65-year-old Japanese woman was referred to our university hospital with a 2-month history of general fatigue and hyperglycemia. Laboratory tests revealed severe hyperglycemia (plasma glucose 543 mg/dL and HbA1c 10.7%) with ketonuria (3+). Glutamic acid decarboxylase (GAD) and IA-2 antibodies were positive, and the serum C peptide level was markedly decreased to 0...
February 16, 2018: Endocrine Journal
Juliane Houcken, Christina Degenhart, Klaus Bender, Jochem König, Lara Frommer, George J Kahaly
Context: Single nucleotide polymorphisms (SNP) of various genes increase susceptibility to monoglandular autoimmunity. Scarce data are available in autoimmune polyglandular syndromes (APS). Objective: Evaluate potential associations of eight SNP with APS. Setting: Academic referral endocrine clinic. Patients: A total of 543 patients with APS, monoglandular autoimmunity and controls. Intervention: The SNP protein tyrosine phosphatase non-receptor type 22 (PTPN22) rs2476601 (+1858), cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) rs3087243 (CT60) and rs231775 (AG49), Vitamin D Receptor (VDR) rs1544410 (Bsm I), rs7975232 (Apa I), rs731236 (Taq I), tumor necrosis factor alpha rs1800630 (-863) and Interleukin-2 receptor alpha rs10795791 were tested by single base extension in all subjects...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
A A Zulfiqar, E Andres
OBJECTIVE: To investigate the association between pernicious anemia and other autoimmune diseases. METHODS: This retrospective and bicentric study was conducted at Reims and Strasbourg University Hospitals and involved 188 patients with pernicious anemia examined between 2000 and 2010 in order to search for other autoimmune diseases and to evaluate the role of pernicious anemia in autoimmune polyglandular syndrome. RESULTS: A total of 74 patients with a combination of pernicious anemia and other autoimmune diseases were included in the study...
October 2017: Journal of Medicine and Life
Cristen P Page, Brian Fitzgerald, Emily M Hawes
Background: Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families. Case presentation: A 49-year-old Caucasian female with history of pituitary adenoma and Graves' disease with history of thyroid ablation presented in the outpatient setting due to hand tingling of her right middle finger that was worse in the mornings and improved throughout the day...
2017: Clinical Diabetes and Endocrinology
Michael Lause, Alisha Kamboj, Esteban Fernandez Faith
The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures...
October 2017: Translational pediatrics
Nobumasa Ohara, Kazumasa Ohashi, Toshiya Fujisaki, Chiyumi Oda, Yohei Ikeda, Yuichiro Yoneoka, Takehisa Hashimoto, Go Hasegawa, Kazuo Suzuki, Toshinori Takada
A 63-year-old Japanese woman with advanced lung adenocarcinoma developed isolated adrenocorticotropin deficiency caused by immune checkpoint inhibitor (ICI)-related hypophysitis following 8 months of nivolumab therapy. Prompt corticosteroid replacement therapy effectively relieved her secondary adrenal insufficiency symptoms and allowed her to pursue nivolumab therapy, which had been effective for the control of lung adenocarcinoma. Human leukocyte antigen (HLA) typing revealed the presence of the DRB1*04:05-DQA1*03:03-DQB1*04:01 haplotype, which is associated with susceptibility to autoimmune polyglandular syndrome with pituitary disorder in the Japanese population...
November 20, 2017: Internal Medicine
Can-Jie Guo, Patrick S C Leung, Weici Zhang, Xiong Ma, M Eric Gershwin
Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance...
January 2018: Autoimmunity Reviews
Giuseppina Zirilli, Simona Santucci, Chiara Cuzzupè, Domenico Corica, Elda Pitrolo, Giuseppina Salzano
BACKGROUND: no reviews have specifically addressed , to now, whether autoimmune polyglandular syndromes (APSs) may have a peculiar epidemiology and phenotypical expression in pediatric ageObjectives: to review the most recent literature data about the specific epidemiological and clinical peculiarities of APSs in childhood and adolescenceDesign: the main features of the different APSs in pediatric age were compared among them. CONCLUSIONS: 1) Among the different APSs, the one that is most typical of pediatric age is APS-1; 2) APS-1 is not characterized only by the classical triad (chronic moniliasis-hyposurrenalism-hypoparathyroidism) and its clinical spectrum is enlarging over time; 3)APS-2 may have a different epidemiological and clinical expression according to two different nosological classifications...
October 23, 2017: Acta Bio-medica: Atenei Parmensis
Milena Jamiołkowska, Artur Bossowski
Polyglandular autoimmune syndromes (PAS) is a group of heterogenous conditions characterized by the association of at least two organ-specific autoimmune disorders, concerning both endocrine and non-endocrine organs. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition (other than Addison's disease) and is divided into four subtypes. We describe a teenage female patient - with the family history of autoimmune diseases, who has simultaneously developed the symptoms of autoimmune thyroid disease with the clinical picture of hyperthyroidism and myasthenia gravis at the age of fifteen...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
Andromachi Vryonidou, Stavroula A Paschou, Fotini Dimitropoulou, Panagiotis Anagnostis, Vasiliki Tzavara, Apostolos Katsivas
We describe a case of a 40-year-old woman who was admitted to the intensive care unit with a rapid onset of dyspnea and orthopnea. She presented progressive weakness, weight loss and secondary amenorrhea during last year, while intermittent fever was present for the last two months. Initial biochemical evaluation showed anemia, hyponatremia and increased C-reactive protein levels. Clinical and echocardiographic evaluation revealed cardiac tamponade, which was treated with pericardiocentesis. Pleural fluid samples were negative for malignancy, tuberculosis or bacterial infection...
2017: Endocrinology, Diabetes & Metabolism Case Reports
Adina Elena Stanciu, Florentina Sava, Gergely Toldi
Primary antibody deficiency syndromes are a rare group of disorders present at any age, with complex polygenic disorders. We report the forth case of polyglandular autoimmune syndrome (PAS) type IIIc worldwide with complex clinical features and no family history of endocrine disorders or primary immunodeficiencies. Our patient, a 44-year-old Caucasian female was diagnosed with PAS type IIIc due to the presence of autoimmune thyroiditis, autoimmune alopecia diffusa and primary ovarian insufficiency, associated with lymphoproliferative disease and primary antibody failure...
October 18, 2017: Gynecological Endocrinology
Pavel Kolkhir, Elena Borzova, Clive Grattan, Riccardo Asero, Dmitry Pogorelov, Marcus Maurer
BACKGROUND AND OBJECTIVE: Numerous autoimmune diseases (AIDs) have been linked to chronic spontaneous urticaria (CSU). Here, we provide the first extensive and comprehensive evaluation of the prevalence of AIDs in patients with CSU and vice versa. METHODS: A Pubmed and Google Scholar search was performed to identify studies reporting the prevalence of various AIDs in CSU and vice versa published before April 2017. RESULTS: The prevalence of individual AIDs in CSU is increased (≥1% in most studies vs ≤1% in the general population)...
October 14, 2017: Autoimmunity Reviews
Rosaria M Ruggeri, Giuseppe Giuffrida, Alfredo Campennì
The endocrine system is interested by several autoimmune diseases, characterized by different impact and severity, according to the organs involved. Autoimmune thyroid disorders (i.e. Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), premature ovarian failure and hypoparathyroidism represent quite rare conditions. Autoimmune endocrine diseases can also coexist in the same individuals and cluster in families...
October 9, 2017: Minerva Endocrinologica
Zachary K Freeland, Richard Lueking, Ginger Tsai-Nguyen, Thoris Pan, Adan Mora
We report a 67-year-old woman who presented with adrenal crisis as a manifestation of autoimmune polyglandular syndrome 2, a polygenic disorder characterized by concurrent primary adrenal insufficiency and either autoimmune thyroid disease or type 1 diabetes mellitus.
October 2017: Proceedings of the Baylor University Medical Center
E Helen Kemp, George J Kahaly, Julie A Porter, Lara Frommer, Anthony P Weetman
OBJECTIVE: The frequency of autoimmunity against the parathyroid glands in patients with polyglandular autoimmunity that is not due to autoimmune polyendocrine syndrome type 1 (APS1) is unclear. To investigate this, this study aimed to determine the prevalence of autoantibodies against parathyroid autoantigens, calcium-sensing receptor (CaSR) and NACHT leucine-rich-repeat protein 5 (NALP5), in a large group of patients with non-APS1 polyendocrine autoimmunity. Possible occult APS1 was investigated by cytokine autoantibody measurement and AIRE gene analysis...
September 23, 2017: Clinical Endocrinology
Roberto Vita, Maria Giulia Santaguida, Camilla Virili, Maria Segni, Marina Galletti, Mattia Mandolfino, Flavia Di Bari, Marco Centanni, Salvatore Benvenga
Polyglandular autoimmune syndrome (PAS) type 3 consists of autoimmune thyroid disease (AITD) coexisting with ≥1 non-thyroidal autoimmune disease (NTAID) other than Addison's disease and hypoparathyroidism. We evaluated the prevalence and repertoire of thyroid hormones antibodies (THAb) in PAS-3 patients. Using a radioimmunoprecipation technique, we measured THAb (T3IgM, T3IgG, T4IgM, and T4IgG) in 107 PAS-3 patients and 88 controls (patients with AITD without any NTAID). Based on the selective coexistence of AITD with one NTAID (chronic autoimmune gastritis, non-segmental vitiligo or celiac disease), patients were divided into group 1 (chronic autoimmune gastritis positive, n = 64), group 2 (non-segmental vitiligo positive, n = 24), and group 3 (celiac disease positive, n = 15)...
2017: Frontiers in Endocrinology
Anna Angelousi, Narjes Nasiri-Ansari, Eliana Spilioti, Emilia Mantzou, Vasiliki Kalotyxou, George Chrousos, Gregory Kaltsas, Eva Kassi
PURPOSE: Circadian timing system is a highly conserved, ubiquitous molecular "clock" which creates internal circadian rhythmicity. Dysregulation of clock genes expression is associated with various diseases including immune dysregulation. In this study we investigated the circadian pattern of Clock-related genes in patients with polyglandular autoimmune syndrome type III (PAS type III). METHODS: Nineteen patients diagnosed with PAS type III and 12 healthy controls were enrolled...
September 7, 2017: Endocrine
G J Kahaly, L Frommer
BACKGROUND: In recent years, scientific knowledge pertaining to the rare ORPHAN polyglandular autoimmune syndrome (registered code ORPHA 282196) has accumulated. OBJECTIVE: To offer current demographic, clinical, serological and immunogenic data on PAS. METHODS: Review of the pertinent and current literature. RESULTS: Polyglandular autoimmune syndromes (PAS) are multifactorial diseases with at least two coexisting autoimmune-mediated endocrinopathies...
January 2018: Journal of Endocrinological Investigation
Rula V Kanj, Nana Ama Ofei-Tenkorang, Mekibib Altaye, Catherine M Gordon
STUDY OBJECTIVE: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received. DESIGN: Retrospective chart review. Data abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. SETTING: Urban children's hospital in Cincinnati, Ohio. PARTICIPANT: s: 50 females, age 11-26 years, with initial presentation of POI between January 1, 2006-December 31, 2015...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
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