Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The objective of this study was to evaluate the polymorphonuclear leukocyte (PMN) function in a poorly controlled adult insulin-dependent diabetic patient (IDDM) with severe recurrent periodontitis, while describing the microbiological and clinical findings. Chemotaxis, superoxide production, and phagocytosis and killing of Porphyromonas (Bacteroides) gingivalis by the IDDM PMN were evaluated 1 week before treatment relative to a healthy, matched control. These analyses revealed a significant (P less than .05) depression in the number of IDDM PMNs migrating along an FMLP gradient (Boyden chamber assay). In addition, a significant (P less than .05) enhancement of IDDM PMN superoxide production in response to opsonized zymosan (cytochrome C reduction) was observed. Phagocytosis and killing (fluorochrome phagocytosis assay) by IDDM PMN of two P. gingivalis strains was also impaired significantly (P less than .05). The subgingival microflora contained significant levels of P. gingivalis, Actinobacillus actinomycetemcomitans, Eikenella corrodens, and Peptostreptococcus micros. Periodontal treatment consisted of extraction of hopeless teeth, scaling and root planing and 3 weeks of Augmentin therapy. The antibiotic therapy resulted in unrecoverable numbers of the putative pathogens and a reduction in both gingival inflammation and disease progression. The IDDM healing response to previous surgical treatment and extractions was poor, presumably due to a marked thrombocytopenia (91 x 10(3) platelets/mm3).
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PMID:Defective neutrophil function in an insulin-dependent diabetes mellitus patients. A case report. 165 89

A 21-year-old patient, since the age of 16, presented a familial type of chronic autoimmune thrombocytopenia that responded only partially to various types of immunosuppressive treatment. His prolonged survival, compared to his decreased siblings, was complicated by the appearance of a severe enteropathy. High doses of corticosteroids induced a type 1 diabetes as a major side effect. The introduction of cyclosporine resulted in both a continuous complete clinical remission and a partial hematological remission and allowed the discontinuation of all other medication for 18 months. In uncommon complex autoimmune disease, cyclosporine may represent a safe and effective alternate therapy when other immunosuppressive agents have failed.
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PMID:Prolonged remission induced by cyclosporine in a patient with familial thrombocytopenia and enteropathy. 764 Jan 83

We report a 34-year-old woman with sequentially occurring autoimmune diseases that are possibly triggered by numerous ovulation inductions. At the ages of 26-32 years, she experienced 27 uncontrolled ovulation induction cycles using clomiphene citrate (CC) or CC plus human menopausal gonadotropin plus human chorionic gonadotropin. She became pregnant at the ages of 27, 30 and 31 with subsequent pregnancy loss in the 28th, 8th and 10th week of gestation, respectively. Insulin-dependent diabetes mellitus (IDDM) developed at the age of 28. During the second year of ovulation induction, at the age of 27, she developed arthralgia that worsened and became migratory from the age of 31. Thrombocytopenia appeared at the age of 33. The diagnosis of systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) was established at the age of 34. To the best of our knowledge, this is the first case of concurrent IDDM, SLE and APS in a patient associated with ovulation inductions. Excessive levels of estradiol achieved during the ovulation inductions could play a role in the expression of multiple autoimmune diseases in the susceptible woman.
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PMID:Ovulation induction and early pregnancy loss in a woman susceptible to autoimmune diseases: a possible interrelationship. 1092 74

The aim of the study was to evaluate association of type 1 diabetes in children and adolescents with positive family history of type 1 diabetes, type 2 diabetes, and thyroid, adrenal, rheumatic, allergic, celiac and some other diseases. A case-control study was conducted in Belgrade. The case group comprised 105 subjects < or = 16 years old who were for the first time hospitalized because of type 1 diabetes during the period 1994-1997. For each case, two controls were chosen among children and adolescents treated for skin diseases. Cases and controls were individually matched by age (+/- one year), sex and place of residence (all were from Belgrade). In the statistical analyses we used chi(2)-test, Fisher's exact test and univariate and multivariate logistic regressions. According to multivariate logistic regression analysis, risk of type 1 diabetes was significantly associated with a positive family history for type 1 diabetes (OR = 4.04; 95% CI, 2.31-7.07), allergic diseases (OR = 3.32; 95% CI, 1.63-6.76), celiac and Crohn's diseases (OR = 11.02; 95% CI, 1.14-106.89) and other diseases (thrombocytopenia, alopecia areata, psoriasis, chronic uveitis and pernicious anemia; OR = 3.63; 95% CI, 1.05-12.48).
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PMID:Family history and risk of type 1 diabetes mellitus. 1235 94

Drosophila Crumbs (Crb), Stardust (Sdt), Discs large (Dlg), Scribble (Scrib) and Lethal giant larvae (Lgl) are involved in the establishment and the maintenance of apicobasal polarity in epithelial tissues. Because epithelial polarity is disrupted in tumors, human homologs of Drosophila crb, sdt, dlg, scrib, and lgl are potential cancer-associated genes. MPP1/EMP55, MPP2, MPP3, MPP4, MPP5/PALS1 and MPP6/PALS2 genes are human homologs of Drosoplila sdt. Here, we identified and characterized a novel member of MPP gene family, MPP7, by using bioinformatics. Uncharacterized FLJ32798 cDNAs (BC038105 and AK057360) were derived from human MPP7 gene. BC038105 was a representative MPP7 cDNA, while AK057360 was an aberrant MPP7 cDNA with a frame shift. Human MPP7 mRNA was expressed in placenta, brain, testis as well as in uterus tumor, bladder tumor, and lymphoma. Microsatellite marker D10S588, linked to IDDM and hereditary thrombocytopenia, was located within the MPP7 gene at human chromosome 10p12.1. Nucleotide sequence of mouse Mpp7 cDNA was determined in silico by assembling 3'-truncated cDNA AK078849, genome clone RP24-255J24, and EST AV260217. Human MPP7 showed 92.9% total-amino-acid identity with mouse Mpp7, and 75.7% total-amino-acid identity with zebrafish humpback. MPP7 orthologs were MAGUK proteins with two L27 domains, PDZ domain, SH3 domain, and GuKc domain. MPP7 was most related to MPP3 among MPP family members, functioning as adopter molecules assembling Crb homologs (CRB1, CRB3), Dlt homologs (INADL/PATJ, MPDZ/MUPP1), and Lin-7 homologs (LIN7A, LIN7B, LIN7C). This is the first report on identification and characterization of human MPP7 and mouse Mpp7 genes.
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PMID:Identification and characterization of human MPP7 gene and mouse Mpp7 gene in silico. 1471 43

Haemolytic-uraemic syndrome (HUS) is a rare cause of insulin-dependent diabetes mellitus during the acute stage. We previously reported the case of a 3-year-old girl having presented with typical HUS with diarrhea, microangiopathic anaemia, thrombocytopenia and acute renal failure (17 days of anuria). Transient hyperglycaemia (highest level: 513 mg/dl) was observed, requiring continuous intravenous insulin infusion for 9 days. Subcutaneous insulin injections were stopped after 24 days. Oral glucose tolerance test performed 4 months after normalization of blood glucose was normal. HLA DQ genotype (DQA1-DQB1.AZH/DQA3-DQB3.1) was not at risk for type 1 diabetes and there were no auto-antibodies (ICA and IAA). The 3-years follow-up was marked by persistent arterial hypertension, proteinuria and slight renal insufficiency despite angiotensin-converting enzyme inhibitor treatment. Ten years after HUS occurred (the patient had been lost to follow-up for 7 years), she came back with complaints of headache but neither polyurodipsia nor weight loss. She was found to have arterial hypertension. Chronic renal impairment had moderately progressed with decreased glomerular filtration rate (63 ml/min/1.73 m2) and proteinuria (2 g/24 hours). Fasting blood glucose was 189 mg/dl and reached 315 mg/dl during an oral glucose tolerance test. HbA1c level was 8.2% (N<6.2%) and diabetes mellitus was diagnosed without any signs of autoimmunity (IAA, ICA, GADA and IA2B were negative). Good glycaemic control was obtained with 0.5 U/kg/day of insulin. In conclusion, transient beta-cell dysfunction complicating HUS acute stage may evolve to overt non-autoimmune diabetes mellitus (microangiopathic process?), even after a long free interval. This case emphasizes the need for a long-term follow-up of patients with HUS.
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PMID:Insulin-dependent diabetes mellitus as long term complication of haemolytic-uraemic syndrome. 1679 6

We describe structural studies of the human leukocyte antigen DR52a, HLA-DRA/DRB3*0101, in complex with an N-terminal human platelet integrin alphaII(B)betaIII glycoprotein peptide which contains a Leu/Pro dimorphism. The 33:Leu dimorphism is the epitope for the T cell directed response in neonatal alloimmune thrombocytopenia and post-transfusion purpura in individuals with the alphaII(B)betaIII 33:Pro allele, and defines the unidirectional alloimmune response. This condition is always associated with DR52a. The crystallographic structure has been refined to 2.25 A. There are two alphabeta heterodimers to the asymmetric unit in space group P4(1)2(1)2. The molecule is characterized by two prominent hydrophobic pockets at either end of the peptide binding cleft and a deep, narrower and highly charged P4 opening underneath the beta 1 chain. Further, the peptide in the second molecule displays a sharp upward turn after pocket P9. The structure reveals the role of pockets and the distinctive basic P4 pocket, shared by DR52a and DR3, in selecting their respective binding peptide repertoire. We observe an interesting switch in a residue from the canonically assigned pocket 6 seen in prior class II structures to pocket 4. This occludes the P6 pocket helping to explain the distinctive "1-4-9" peptide binding motif. A beta57 Asp-->Val substitution abrogates the salt-bridge to alpha76 Arg and along with a hydrophobic beta37 is important in shaping the P9 pocket. DRB3*0101 and DRB1*0301 belong to an ancestral haplotype and are associated with many autoimmune diseases linked to antigen presentation, but whereas DR3 is susceptible to type 1 diabetes DR52a is not. This dichotomy is explored for clues to the disease.
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PMID:Crystallographic structure of the human leukocyte antigen DRA, DRB3*0101: models of a directional alloimmune response and autoimmunity. 1758 34

The era of interferon (IFN) administration in the treatment of patients with chronic viral hepatitis creates an essential turning point for therapy of these diseases. Incessant progress of the new, more efficient and lower side effects of interferon causes decrease in treatment withdrawal. The side effects like myalgia, nausea, fatigue and loss of appetite, usually with good reaction for symptomatic treatment and intensity of the symptoms decreases during treatment continuation. Due to strong immuno-modulatory activities and long-lasting therapy, autoimmune diseases are observed in some cases. Therefore treatment process should be carefully and trifle monitored especially in autoantibodies appearance aspect. To the most common interferon mediated autoimmune diseases belong thyroiditis, autoimmune hepatitis and thrombocytopenia. Interstitial pneumonitis, systemic lupus erythematosus, type I diabetes mellitus, asthma and sarcoidosis exacerbation as well as glomerular diseases are observed rarely. In our paper we discus an issue of autoimmune diseases induction phenomena caused by interferon therapy administrated in the treatment of chronic viral hepatitis.
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PMID:[Interferon therapy in chronic viral hepatitis; an autoimmunity dilemma]. 1794 66

LRBA (lipopolysaccharide-responsive and beige-like anchor protein) deficiency associates immune deficiency, lymphoproliferation, and various organ-specific autoimmunity. To date, prevalent symptoms are autoimmune cytopenias and enteropathy, and lymphocytic interstitial lung disease. In 2 siblings from a consanguineous family presenting with early onset polyautoimmunity, we presumed autosomal recessive inheritance and performed whole exome sequencing. We herein report the first case of early-onset, severe, chronic polyarthritis associated with LRBA deficiency. A novel 1bp insertion in the LRBA gene, abolishing protein expression, was identified in this family. Among the 2 brothers homozygous for LRBA mutation, one developed Evans syndrome and deceased at age 8.5 from complications of severe autoimmune thrombocytopenia. His brother, who carried the same homozygous LRBA mutation, early-onset erosive polyarthritis associated with chronic, bilateral, anterior uveitis and early onset type 1 diabetes mellitus. This report widens the clinical spectrum of LRBA deficiency and, in lights of the variable phenotypes described so far, prompts us to screen for this disease in patients with multiple autoimmune symptoms in the family, including severe, erosive, polyarticular juvenile arthritis.
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PMID:LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis. 2705 99

Celiac disease is a multisystem immune-mediated disorder caused by exposure to dietary gluten in genetically predisposed individuals. The clinical presentation is characterized by a multitude and diversity of symptoms and complications. The coexistence of celiac disease with other autoimmune disorders has been established, most frequently with type 1 diabetes mellitus and autoimmune thyroiditis. The association of celiac disease with immune-mediated hematologic conditions has been rarely reported. This case study describes a pair of identical twin sisters with celiac disease associated with Evans syndrome in one sibling, and with isolated immune thrombocytopenia in the other.
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PMID:Celiac disease with Evans syndrome and isolated immune thrombocytopenia in monozygotic twins: a rare association. 2731 69


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