scholarly journals Autoimmune Polyendocrinopathy

2019 ◽  
Vol 104 (10) ◽  
pp. 4769-4782 ◽  
Author(s):  
Lara Frommer ◽  
George J Kahaly
Keyword(s):  
Cytotoxic T Lymphocyte ◽  
Tyrosine Phosphatase ◽  
Type I ◽  
Serological Screening ◽  
Autoimmune Thyroid ◽  
Aire Gene ◽  
Addison Disease ◽  
Autoimmune Polyendocrinopathy ◽  
Recent Developments

Abstract Context This mini-review offers an update on the rare autoimmune polyendocrinopathy (AP) syndrome with a synopsis of recent developments. Design and Results Systematic search for studies related to pathogenesis, immunogenetics, screening, diagnosis, clinical spectrum, and epidemiology of AP. AP (orphan code ORPHA 282196) is defined as the autoimmune-induced failure of at least two glands. AP is divided into the rare juvenile type I and the adult types II to IV. The prevalence is 1:100,000 and 1:20,000 for types I and types II to IV, respectively. Whereas type I (ORPHA 3453) is a monogenetic syndrome with an autosomal recessive transmission related to mutations in the autoimmune regulator (AIRE) gene, types II to IV are genetically complex multifactorial syndromes that are strongly associated with certain alleles of HLA genes within the major histocompatibility complex located on chromosome 6, as well as the cytotoxic T lymphocyte antigen 4 and the protein tyrosine phosphatase nonreceptor type 22 genes. Addison disease is the major endocrine component of type II (ORPHA 3143), whereas the coexistence of type 1 diabetes and autoimmune thyroid disease is characteristic for type III (ORPHA 227982). Genetic screening for the AIRE gene is useful in patients with suspected type I, whereas serological screening (i.e., diabetes/adrenal antibodies) is required in patients with monoglandular autoimmunity and suspected AP. If positive, functional endocrine testing of the antibody-positive patients as well as serological screening of their first-degree relatives is recommended. Conclusion Timely diagnosis, genetic counseling, and optimal long-term management of AP is best offered in specialized centers.

scholarly journals Polyglandular autoimmune syndromes

2009 ◽  
Vol 161 (1) ◽  
pp. 11-20 ◽  
Author(s):  
George J Kahaly
Keyword(s):  
Cytotoxic T Lymphocyte ◽  
Wide Spectrum ◽  
Tyrosine Phosphatase ◽  
Immunological Tolerance ◽  
Autoimmune Disorders ◽  
Chromosome 21 ◽  
Endocrine Disorders ◽  
Type I ◽  
Adult Type ◽  
Testing Management

The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (PAS type I) and a relatively common adult type with (PAS II) or without adrenal failure (PAS III). First clinical manifestation of PAS I usually occurs in childhood, whereas PAS II mostly occurs during the third and fourth decades. PAS I is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations in the AIRE gene result in defect proteins which cause autoimmune destruction of target organs by disturbing the immunological tolerance of the patients. Genetic testing may identify patients with PAS I, but not those with PAS II/III. For PAS II/III, susceptibility genes are known which increase the risk for developing autoimmune disorders, but must not be causative. These are certain HLA genes, the cytotoxic T lymphocyte antigen gene, and the protein tyrosine phosphatase non-receptor type 22 gene on chromosomes 6, 2 and 1 respectively. Actual diagnosis of PAS involves serological measurement of organ-specific autoantibodies and subsequent functional testing. Management of patients with PAS including their family relatives is best performed in centres with special expertise in autoimmune endocrine disorders.

scholarly journals Celiac Disease-Associated Autoimmune Endocrinopathies

2001 ◽  
Vol 8 (4) ◽  
pp. 678-685 ◽  
Author(s):  
Vijay Kumar ◽  
Manoj Rajadhyaksha ◽  
Jacobo Wortsman
Keyword(s):  
Celiac Disease ◽  
Type I Diabetes ◽  
Tissue Transglutaminase ◽  
Autoimmune Disorder ◽  
Autoimmune Disorders ◽  
Type I ◽  
Susceptible Population ◽  
Autoimmune Thyroid ◽  
Onset Of Diabetes

ABSTRACT Celiac disease (CD) is an autoimmune disorder induced by gluten intake in genetically susceptible individuals. It is characterized by the presence of serum antibodies to endomysium, reticulin, gliadin, and tissue transglutaminase. The incidence of CD in various autoimmune disorders is increased 10- to 30-fold in comparison to the general population, although in many cases CD is clinically asymptomatic or silent. The identification of such cases with CD is important since it may help in the control of type I diabetes or endocrine functions in general, as well as in the prevention of long-term complications of CD, such as lymphoma. It is believed that CD may predispose an individual to other autoimmune disorders such as type I diabetes, autoimmune thyroid, and other endocrine diseases and that gluten may be a possible trigger. The onset of type I diabetes at an early age in patients with CD, compared to non-CD, and the prevention or delay in onset of diabetes by gluten-free diet in genetically predisposed individuals substantiates this antigen trigger hypothesis. Early identification of CD patients in highly susceptible population may result in the treatment of subclinical CD and improved control of associated disorders.

Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases

1995 ◽  
Vol 41 (3) ◽  
pp. 375-380 ◽  
Author(s):  
J Colls ◽  
C Betterle ◽  
M Volpato ◽  
L Prentice ◽  
B R Smith ◽  
...  
Keyword(s):  
Lupus Erythematosus ◽  
Insulin Dependent Diabetes Mellitus ◽  
Dependent Diabetes Mellitus ◽  
Type I ◽  
Immunoprecipitation Assay ◽  
Autoimmune Thyroid ◽  
Addison Disease ◽  
Low Concentrations ◽  
Insulin Dependent ◽  
Good Agreement

Abstract Adrenal autoantibodies characteristic of autoimmune Addison disease are directed towards steroid 21-hydroxylase (21-OH; EC 1.14.99.10). We describe a new assay to measure 21-OH autoantibodies (21-OH Abs), based on immunoprecipitation by the antibodies of 35S-labeled human 21-OH. Using this immunoprecipitation assay (IPA), we detected 21-OH Abs in 42 of 64 (66%) patients with Addison disease and in 14 of 19 (74%) patients with autoimmune polyendocrine syndromes type I and type II. No 21-OH Abs were detected by the IPA in any patients with Addison disease attributable to tuberculosis (n = 9) or adrenoleukodystrophy (n = 9) or in patients with autoimmune thyroid disease (n = 28), systemic lupus erythematosus (n = 10), myasthenia gravis (n = 10), rheumatoid arthritis (n = 10), or insulin-dependent diabetes mellitus (n = 12). None of the 26 sera from healthy normal blood donors was positive for 21-OH Abs by the assay. We found good agreement between 21-OH Abs measured by IPA and by Western blotting (r = 0.83, n = 123, P < 0.001). The inter- and intraassay CVs for IPA were well < 10% at high, medium, and low concentrations of 21-OH Abs. Overall, our studies indicate that the IPA provides a specific, sensitive, and convenient system for measuring 21-OH Abs.

Comparative Study of effectiveness of mobilization with movement (MWM) and End range mobilization (ERM) techniques in frozen shoulder

2018 ◽  
Vol 4 (4) ◽  
pp. 519-522
Author(s):  
Jeyakumar S ◽  
Jagatheesan Alagesan ◽  
T.S. Muthukumar
Keyword(s):  
Range Of Motion ◽  
Frozen Shoulder ◽  
Type I ◽  
Mean Values ◽  
Functional Activities ◽  
Group A ◽  
The Mean ◽  
Group B

Background: Frozen shoulder is disorder of the connective tissue that limits the normal Range of motion of the shoulder in diabetes, frozen shoulder is thought to be caused by changes to the collagen in the shoulder joint as a result of long term Hypoglycemia. Mobilization is a therapeutic movement of the joint. The goal is to restore normal joint motion and rhythm. The use of mobilization with movement for peripheral joints was developed by mulligan. This technique combines a sustained application of manual technique “gliding” force to the joint with concurrent physiologic motion of joint, either actively or passively. This study aims to find out the effects of mobilization with movement and end range mobilization in frozen shoulder in Type I diabetics. Materials and Methods: 30 subjects both male and female, suffering with shoulder pain and clinically diagnosed with frozen shoulder was recruited for the study and divided into two groups with 15 patients each based on convenient sampling method. Group A patients received mobilization with movement and Group B patients received end range mobilization for three weeks. The outcome measurements were SPADI, Functional hand to back scale, abduction range of motion using goniometer and VAS. Results: The mean values of all parameters showed significant differences in group A as compared to group B in terms of decreased pain, increased abduction range and other outcome measures. Conclusion: Based on the results it has been concluded that treating the type 1 diabetic patient with frozen shoulder, mobilization with movement exercise shows better results than end range mobilization in reducing pain and increase functional activities and mobility in frozen shoulder.

Effects of long-term optimization and short-term deterioration of glycemic control on glucose counterregulation in type I diabetes mellitus

Diabetes ◽  
1984 ◽  
Vol 33 (4) ◽  
pp. 394-400 ◽  
Author(s):  
G. Bolli ◽  
P. De Feo ◽  
S. De Cosmo ◽  
G. Perriello ◽  
G. Angeletti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Glycemic Control ◽  
Type I Diabetes ◽  
Type I Diabetes Mellitus ◽  
Type I ◽  
Short Term

Review of Recent Developments in Surface Nanocrystallization of Metallic Biomaterials

Nanoscale ◽  
2021 ◽  
Author(s):  
Srijan Acharya ◽  
Satyam Suwas ◽  
Kaushik Chatterjee
Keyword(s):  
Human Body ◽  
Surface Characteristics ◽  
Metallic Materials ◽  
Short Term ◽  
Surface Nanocrystallization ◽  
Metallic Biomaterials ◽  
Recent Developments

Metallic materials are widely used to prepare implants for both short-term and long-term use in the human body. The performance of these implants is greatly influenced by their surface characteristics,...

scholarly journals Cellular stress signaling activates type-I IFN response through FOXO3-regulated lamin posttranslational modification

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Inah Hwang ◽  
Hiroki Uchida ◽  
Ziwei Dai ◽  
Fei Li ◽  
Teresa Sanchez ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Environmental Changes ◽  
Type I ◽  
Neurogenic Differentiation ◽  
Forkhead Box ◽  
Nuclear Lamin ◽  
Neural Stem Progenitor Cells ◽  
Subsequent Activation ◽  
Methyl Group Transfer

AbstractNeural stem/progenitor cells (NSPCs) persist over the lifespan while encountering constant challenges from age or injury related brain environmental changes like elevated oxidative stress. But how oxidative stress regulates NSPC and its neurogenic differentiation is less clear. Here we report that acutely elevated cellular oxidative stress in NSPCs modulates neurogenic differentiation through induction of Forkhead box protein O3 (FOXO3)-mediated cGAS/STING and type I interferon (IFN-I) responses. We show that oxidative stress activates FOXO3 and its transcriptional target glycine-N-methyltransferase (GNMT) whose upregulation triggers depletion of s-adenosylmethionine (SAM), a key co-substrate involved in methyl group transfer reactions. Mechanistically, we demonstrate that reduced intracellular SAM availability disrupts carboxymethylation and maturation of nuclear lamin, which induce cytosolic release of chromatin fragments and subsequent activation of the cGAS/STING-IFN-I cascade to suppress neurogenic differentiation. Together, our findings suggest the FOXO3-GNMT/SAM-lamin-cGAS/STING-IFN-I signaling cascade as a critical stress response program that regulates long-term regenerative potential.

scholarly journals Minimal Invasive Surgery for Gastroesophageal Reflux Disease and Hiatus Hernia—Our Experience: A Case Series with Review of Literature

2021 ◽  
Author(s):  
Rafique Umer Harvitkar ◽  
Abhijit Joshi
Keyword(s):  
Retrospective Study ◽  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Operating Time ◽  
Type I ◽  
Type Ii ◽  
The Mean ◽  
Gerd Symptoms

Abstract Introduction Laparoscopic fundoplication (LF) has almost completely replaced the open procedure performed for gastroesophageal reflux disease (GERD) and hiatus hernia (HH). Several studies have suggested that long-term results with surgery for GERD are better than a medical line of management. In this retrospective study, we outline our experience with LF over 10 years. Also, we analyze the factors that would help us in better patient selection, thereby positively affecting the outcomes of surgery. Patients and Methods In this retrospective study, we identified 27 patients (14 females and 13 males) operated upon by a single surgeon from 2010 to 2020 at our institution. Out of these, 25 patients (12 females and 13 males) had GERD with type I HH and 2 (both females) had type II HH without GERD. The age range was 24 to 75 years. All patients had undergone oesophago-gastro-duodenoscopy (OGD scopy). A total of 25 patients had various degrees of esophagitis. Two patients had no esophagitis. These patients were analyzed for age, sex, symptoms, preoperative evaluation, exact procedure performed (Nissen’s vs. Toupet’s vs. cruroplasty + gastropexy), morbidity/mortality, and functional outcomes. They were also reviewed to examine the length of stay, length of procedure, complications, and recurrent symptoms on follow-up. Symptoms were assessed objectively with a score for six classical GERD symptoms preoperatively and on follow-up at 1-, 4- and 6-weeks postsurgery. Further evaluation was performed after 6 months and then annually for 2 years. Results 14 females (53%) and 13 males (48%) with a diagnosis of GERD (with type I HH) and type II HH were operated upon. The mean age was 46 years (24–75 years) and the mean body mass index (BMI) was 27 (18–32). The range of duration of the preoperative symptoms was 6 months to 2 years. The average operating time dropped from 130 minutes for the first 12 cases to 90 minutes for the last 15 cases. The mean hospital stay was 3 days (range: 2–4 days). In the immediate postoperative period, 72% (n = 18) of the patients reported improvement in the GERD symptoms, while 2 (8%) patients described heartburn (grade I, mild, daily) and 1 (4%) patient described bloating (grade I, daily). A total of 5 patients (20%) reported mild dysphagia to solids in the first 2 postoperative weeks. These symptoms settled down after 2 to 5 weeks of postoperative proton-pump inhibitor (PPI) therapy and by adjusting consistency of oral feeds. There was no conversion to open, and we observed no perioperative mortality. There were no patients who underwent redo surgeries in the series. Conclusion LF is a safe and highly effective procedure for a patient with symptoms of GERD, and it gives long-term relief from the symptoms. Stringent selection criteria are necessary to optimize the results of surgery. Experience is associated with a significant reduction of operating time.

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