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https://www.readbyqxmd.com/read/29108822/the-immunobiology-and-clinical-features-of-type-1-autoimmune-polyglandular-syndrome-aps-1
#1
REVIEW
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...
November 3, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29083330/peculiarities-of-autoimmune-polyglandular-syndromes-in-children-and-adolescents
#2
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
https://www.readbyqxmd.com/read/29073308/15-year-old-girl-with-aps-type-iiic-12-months-post-thymectomy-remission-of-myasthenia
#3
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
https://www.readbyqxmd.com/read/29062486/cardiac-tamponade-in-a-patient-with-autoimmune-polyglandular-syndrome-type-2
#4
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
https://www.readbyqxmd.com/read/29043872/a-rare-case-of-polyglandular-autoimmune-syndrome-type-iiic-with-primary-antibody-failure
#5
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
https://www.readbyqxmd.com/read/29037900/autoimmune-comorbidity-in-chronic-spontaneous-urticaria-a-systematic-review
#6
REVIEW
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
https://www.readbyqxmd.com/read/28990742/autoimmune-endocrine-diseases
#7
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
https://www.readbyqxmd.com/read/28966452/adrenal-crisis-and-autoimmune-polyglandular-syndromes
#8
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
https://www.readbyqxmd.com/read/28941288/autoantibodies-against-the-calcium-sensing-receptor-and-cytokines-in-autoimmune-polyglandular-syndromes-types-2-3-and-4
#9
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
https://www.readbyqxmd.com/read/28894436/serum-thyroid-hormone-antibodies-are-frequent-in-patients-with-polyglandular-autoimmune-syndrome-type-3-particularly-in-those-who-require-thyroxine-treatment
#10
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
https://www.readbyqxmd.com/read/28884339/altered-expression-of-circadian-clock-genes-in-polyglandular-autoimmune-syndrome-type-iii
#11
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
https://www.readbyqxmd.com/read/28819917/polyglandular-autoimmune-syndromes
#12
REVIEW
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...
August 17, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28782660/evaluation-and-management-of-primary-ovarian-insufficiency-in-adolescents-and-young-adults
#13
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
https://www.readbyqxmd.com/read/28609284/premature-ovarian-failure-could-be-an-alarming-sign-of-polyglandular-autoimmune-dysfunction
#14
Aasem Saif, M Assem
A 31-year-old lady, diagnosed to have premature ovarian failure in the gynecology clinic, was referred for endocrine assessment because of an abnormal thyroid function test. Clinical examination revealed hypotension, and fungal skin infection under her atrophic breasts. Thyroid stimulating hormone (TSH) level was very high. Assessment of the suprarenal function revealed evidence of Addison's disease. Polyglandular autoimmune dysfunction was diagnosed. She was treated with prednisone, fludrocortisone, and levothyroxine with significant improvement of her general condition and blood pressure...
April 25, 2017: Endocrine Regulations
https://www.readbyqxmd.com/read/28491051/hashimoto-s-thyroiditis-and-autoimmune-gastritis
#15
REVIEW
Miriam Cellini, Maria Giulia Santaguida, Camilla Virili, Silvia Capriello, Nunzia Brusca, Lucilla Gargano, Marco Centanni
The term "thyrogastric syndrome" defines the association between autoimmune thyroid disease and chronic autoimmune gastritis (CAG), and it was first described in the early 1960s. More recently, this association has been included in polyglandular autoimmune syndrome type IIIb, in which autoimmune thyroiditis represents the pivotal disorder. Hashimoto's thyroiditis (HT) is the most frequent autoimmune disease, and it has been reported to be associated with gastric disorders in 10-40% of patients while about 40% of patients with autoimmune gastritis also present HT...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28446858/a-case-of-autoimmune-polyglandular-syndrome-ype-2-associated-with-atypical-form-of-scleromyxedema
#16
Oleksander Prylutskyi, Olga Prylutska, Anatoliy Degonskyi, Kseniia Tkachenko
BACKGROUND: Autoimmune polyglandular syndrome type 2 represents an uncommon endocrine disorder composed by Addison's disease with autoimmune thyroid disease (Schmidt's syndrome) and/or type 1 diabetes mellitus. Scleromyxedema is a rare progressive cutaneous mucinosis usually associated with systemic involvement and paraproteinemia. To the best of our knowledge, there is no case report of Schmidt's syndrome associated with scleromyxedema. CASE DETAILS: A 34-year-old woman was admitted to Donetsk Clinical Territorial Medical Association due to acute general weakness, reduced vision, dryness of integuments, memory decline, fatigue, weight loss, rash on the face trunk and extremities...
September 2016: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28337240/autoimmune-pancreatitis-as-a-component-of-autoimmune-polyglandular-syndrome
#17
Grażyna Piotrowicz, Beata Stępień, Agnieszka Klufczyńska
No abstract text is available yet for this article.
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/28323927/exome-sequencing-reveals-mutations-in-aire-as-a-cause-of-isolated-hypoparathyroidism
#18
Dong Li, Elizabeth A Streeten, Alice Chan, Wint Lwin, Lifeng Tian, Renata Pellegrino da Silva, Cecilia E Kim, Mark S Anderson, Hakon Hakonarson, Michael A Levine
Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. Objective: The objective of this study was to identify the underlying genetic basis for isolated HYPO in a kindred in which 3 of 10 siblings were affected. Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Methods: We collected clinical and biochemical data and performed whole exome sequencing analysis on DNA from the three affected subjects after negative genetic testing for known causes of HYPO...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28245453/a-novel-clinical-entity-of-autoimmune-endocrinopathy-anti-pit-1-antibody-syndrome
#19
REVIEW
Genzo Iguchi, Hironori Bando, Yutaka Takahashi
Pituitary-specific transcription factor 1 (PIT-1; POU domain, class 1, transcription factor 1 (POU1F1)) is an essential transcription factor for the differentiation of somatotrophs, lactotrophs, and thyrotrophs, and for the expression of growth hormone (GH), prolactin (PRL), and thyroid-stimulating hormone (TSH). Mutations in PIT-1 cause congenital defects in GH and PRL secretion and severe TSH insufficiency. Anti-PIT-1 antibody syndrome, firstly reported in 2011, is characterized by acquired GH, PRL, and TSH deficiencies without PIT-1 mutation and is associated with the presence of the circulating antibody against PIT-1 protein as a marker...
2017: Frontiers of Hormone Research
https://www.readbyqxmd.com/read/28222993/effusive-constrictive-pericarditis-in-autoimmune-polyglandular-syndrome-type-ii
#20
David McNamara, Haru Yamamoto, Venetia Sarode, Vlad G Zaha
No abstract text is available yet for this article.
February 18, 2017: American Journal of Medicine
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