Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features of a 7-year-old girl with enamel hypoplasia secondary to autoimmune hypoparathyroidism and chronic mucocutaneous candidiasis are detailed. The combination of features are typical of a rare, probably genetically determined immunodeficiency termed candidiasis endocrinopathy syndrome (CES). Affected individuals have chronic mucocutaneous candidiasis and a spectrum of autoimmune endocrinopathies, including hypoparathyroidism, adrenocortical hypofunction, and diabetes mellitus. Treatment includes long-term management of the candidal infection and correction of any associated endocrinopathy.
 ...
PMID:Enamel hypoplasia secondary to candidiasis endocrinopathy syndrome: case report. 761 99

Long-term blood transfusions lead to the accumulation of iron that in the absence of chelation therapy causes complications such as liver cirrhosis, growth failure, hypogonadism, hypothyroidism, hypoparathyroidism, diabetes and myocardiopathy. The last still represents the most frequent cause of death in haemosiderotic transfusion-dependent patients. At the moment the only chelator widely used is desferrioxamine (DFX). The drug works best when administered as a continuous infusion, mainly by the subcutaneous route. To patients with severe iron overload, impending organ failure, or poor compliance to chelation, DFX can be administered intravenously, through an externalized central catheter or, preferably, a subcutaneous port. Several studies have shown the effectiveness of DFX in reducing the iron burden, thus preventing the complications, once considered inevitable, of iron overload, and even in reverting some, but not all, of the iron-induced dysfunctions. Practical and psychological support are necessary to ensure satisfactory compliance with a therapy that is cumbersome and difficult. Toxic effects of DFX such as growth failure, hearing impairment and bone abnormalities seem to occur mainly in patients who have received high doses of DFX despite a low iron burden. Visual loss and renal and pulmonary toxicities, on the contrary, seem to be more directly related to high DFX peak doses administered irrespective of the patient's amount of iron overload. After bone marrow transplantation, phlebotomy or erythrocytoapheresis might be necessary to reduce further the iron accumulated during years of transfusions.
 ...
PMID:Clinical manifestations and therapy of transfusional haemosiderosis. 788 Nov 60

A 50-year-old man was admitted to our hospital for the evaluation of hypocalcemia and the treatment of diabetes mellitus. Seven months before admission, he sometimes felt thirst and polyuria, and 4 months before admission, he went to a doctor to check his blood glucose and was diagnosed as having diabetes mellitus which had suddenly developed. At that time he was treated with sulfonylurea, but his diabetic control was very poor. At the time of admission to our hospital, the patient's serum calcium (Ca) level was 5.7 mg/dl, phosphorus (P) 5.0 mg/dl, and fasting blood glucose 308 mg/dl, but urinary ketone bodies were not detected. High sensitive assay of parathyroid hormone (HS-PTH), intact PTH and C-terminus PTH concentrations were under the level of detection. TSH level was slightly high (6.1 mu U/ml) with positive antimicrosomal and antithyroglobulin antibodies but thyroid hormone levels were within normal limits. TRH test showed over-response of TSH. Based on Ellsworth-Howard test, we made the diagnosis of idiopathic hypoparathyroidism associated with primary hypothyroidism and diabetes mellitus. He was treated with insulin twice a day and reached good control, and he was also administered 1 alpha-OH-D3 and calcium lactate resulting in an increase of serum Ca level after 2 weeks. These findings suggest that this case may be a polyglandular autoimmune (PGA) syndrome type 1 reported by Neufeld, which is very rare in Japan. The type of diabetes mellitus of this case is controversial. It is, however, necessary to pay attention to the decrease of the patient's insulin-secreting activity because autoimmune disorders are accompanied by this case.
 ...
PMID:[A case of idiopathic hypoparathyroidism associated with primary hypothyroidism and diabetes mellitus]. 795 10

Point mutations in the mitochondrial gene tRNA leucine(UUR) have been associated with maternally inherited mitochondrial myopathies including the MELAS syndrome (Mitochondrial Myopathy Encephalopathy Lactic acidosis and Stroke-like episodes). We describe a further mutation in tRNA leucine(UUR) in a patient with mitochondrial encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism and diabetes mellitus. The mutation was heteroplasmic in the proband's blood (30%) and muscle (76%); it was present at high levels in the proband's affected mother (50% in muscle), and at low levels (< 10%) in blood, muscle and fibroblasts of an unaffected sister. The mutation was not found in 121 normal controls or 35 other patients with mitochondrial disorders. The mutation is at a highly conserved position in the tRNA molecule, close to the 3,243 mutation which is associated with more than 80% of MELAS cases. Further more, both mutations lie within a possible transcriptional control region. This finding adds further support to the evidence that mutations in this region and in other mitochondrial tRNA genes may cause disease.
 ...
PMID:A new point mutation associated with mitochondrial encephalomyopathy. 811 77

Beta-cell function and islet cell antibodies were studied in six patients with autoimmune polyendocrine syndrome type I. All suffered from mucocutaneous candidiasis, five had adrenocortical insufficiency and three hypoparathyroidism. All sera contained high titres of antibodies staining islets of Langerhans. Reactivity against glutamate decarboxylase, predominantly the 65 kDa isoform, was detected by immunoprecipitations and Western blots in five of the six sera, and all six sera immunoprecipitated a 51 kDa antigen from [35S]-methionine labelled rat islet cell lysates. No reactivity against this latter antigen was found in sera of patients with Type 1 (insulin-dependent) diabetes mellitus (n = 9), Graves' disease (n = 5), autoimmune gastritis (n = 4), idiopathic Addison's disease (n = 7), or stiff-man syndrome (n = 2). The 51 kDa antigen was also detected by Western blots using homogenates of rat islets and autoimmune polyendocrine syndrome type I patient sera, whereas no such reactivity was found with homogenates of testes, adrenals, small intestine, spleen, exocrine pancreas or brain. Moreover, the 51 kDa antigen was present in the rat insulinoma cell line RINm 5F but not in the SV-40 transformed, monkey kidney cell line COS, when examined by immunoprecipitations of [35S]-methionine labelled cell lysates and by Western blots. None of the patients with autoimmune polyendocrine syndrome type I had symptoms of diabetes and their insulin responses to glucose challenge were normal. The data illustrate that patients with autoimmune polyendocrine syndrome type I present an autoimmune response against islets of Langerhans, which is apparently different from that associated with classic Type 1 diabetes.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I. 815 Feb 32

We report a case of 26-year-old woman with Graves' disease and idiopathic hypoparathyroidism diagnosed at 11 years of age, who subsequently developed insulin-dependent diabetes mellitus (IDDM) at 17 years of age. Treatment with antithyroid agents had failed to control her Graves' disease and her IDDM was unmanageable despite insulin therapy. Surgical intervention was carried out, resulting in an improvement of both her hyperthyroidism and IDDM. This case is the first report of polyglandular autoimmune (PGA) syndrome, presenting the association of IDDM, Graves' disease and idiopathic hypoparathyroidism.
 ...
PMID:Insulin-dependent diabetes mellitus associated with Graves' disease and idiopathic hypoparathyroidism. 825 54

Autoimmune polyglandular syndrome is characterized by a failure of multiple endocrine organs and the presence of circulating organ-specific autoantibodies targeted against the failing organs. Here we describe a patient with autoimmune polyglandular syndrome type I with the endocrine manifestations of hypoparathyroidism, adrenocortical insufficiency, and insulin-dependent diabetes mellitus. Long-standing hypoparathyroidism led to extensive calcification of the basal ganglia which resulted in the clinical presentation of an extrapyramidal movement disorder (choreoathetotic and hemiballistic hyperkinesia of the left extremities). Interestingly, parallel to rehydration and the initiation of cortisol replacement therapy a complete reversion of the hyperkinetic signs was achieved. This case shows a rare multiendocrine organ failure with complex metabolic interactions resulting in marked neurological signs. Furthermore, this case demonstrates for the first time that a hyperkinetic syndrome--most likely due to hypoparathyroidism-induced basal ganglia calcification--can be reversed solely by adequate treatment of the concomitant endocrine failures.
 ...
PMID:Reversible hyperkinesia in a patient with autoimmune polyglandular syndrome type I. 831 86

Endocrine crises can occur in diabetes mellitus, in pituitary failure when there is a lack of ACTH, TSH or ADH secretion, in severe hyper- or hypothyroidism (thyroid storm and myxedema coma), severe hyper- or hypoparathyroidism (parathyroid crisis and tetany), in adrenal failure and in patients with pheochromocytoma or carcinoid tumors. Cushing's syndrome can be associated with psychotic crises. This review describes the most important clinical features and the basic diagnostic and therapeutic aspects of the non diabetic endocrine crises.
 ...
PMID:[Endocrine crises]. 848 76

Reduced bone mass occurring with increased frequency in diabetes mellitus has been attributed to poor blood glucose control but the pathogenetic mechanisms remain unknown. To evaluate the role of calcium metabolism, 59 patients with diabetes and normal renal function (22 Type 1, 37 Type 2) were studied. In all patients plasma calcium (Ca), serum phosphate (PO4), serum parathyroid hormone (PTH), and 24-h urinary calcium (uCa) were determined under both poor and improved control (for at least 7 days) as ascertained by four blood glucose determinations daily. Improvement of blood glucose control (p = 0.001) was associated with reduction of uCa both in Type 1 (6.9 +/- 1 vs 4.9 +/- 0.9 mmol day-1, mean +/- SEM, p = 0.02) and in Type 2 patients (4.2 +/- 0.4 vs 3.2 +/- 0.4 mmol day-1, mean +/- SEM, p = 0.002). Considerably more Type 1 patients (10 out of 22) had PTH values below the detection limit (1.5 pmol l-1) during poor than during improved control (2 out of 22). Comparison between the two types of diabetes showed that in Type 1 under poor control, Ca and PTH were lower (p = 0.03), while uCa was higher (p = 0.003), and after improved control, only uCa continued to be higher (p = 0.035). These findings suggest that increased uCa excretion in association with 'functional hypoparathyroidism' (especially in Type 1 diabetes) is observed during poor blood glucose control, and may be one of the factors leading to reduced bone mass in diabetes mellitus.
 ...
PMID:Calcium metabolism in diabetes mellitus: effect of improved blood glucose control. 850 17

We report a case of non-insulin-dependent diabetes mellitus (NIDDM) complicated with idiopathic hypoparathyroidism. A 74-year-old male was hospitalized because of diplopia. He was revealed to have NIDDM. The levels of serum Ca and intact-PTH were 6.3 mg/dl and < 5 pg/ml, respectively. Brain computed tomography revealed abnormal calcification in the cerebral basal ganglia and the cerebellum. After recovery from hypocalcemia, the endogenous insulin secretion was normalized. It is suggested that the pathogenesis of NIDDM in this patient may have been related to an insulin secretory defect as a result of hypocalcemia in addition to the hereditary risk.
 ...
PMID:Non-insulin-dependent diabetes mellitus complicated with idiopathic hypoparathyroidism. 858 May 67


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>