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)

A 9-year-old girl and an 11-year-old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged-red fibers and Southern analysis demonstrated a distinct heteroplasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) gene recently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These 2 children had combined features of Kearns-Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.
 ...
PMID:Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. 189 71

Life-long hormone replacement therapy is today the only form of therapy for several endocrine insufficiencies. Transplantation of endocrine tissues could represent a more physiological approach to the treatment of different syndromes such as adrenal insufficiency, diabetes or hypoparathyroidism. Successful experimental islet transplantation across major histocompatibility barriers using cultural pretreatment of the insulin producing tissue in conjunction with temporary immunosuppression of the recipients, encouraged us to attempt similar approaches with parathyroids, adrenal cortex and adrenal medulla. Either bilateral parathyroidectomy or bilateral adrenalectomy were performed on the recipient rats before transplantation, followed by the implantation of parathyroid, adrenal cortical or adrenal medullary tissue beneath the renal capsule. The tissue was transplanted either immediately after its dissection or after pretreatment with 1 week culture. Some of the recipients received a short term cyclosporine treatment. The results indicated that parathyroid and adrenal medulla transplants were often infiltrated by mononuclear cells 30 days after transplantation. In contrast, adrenal cortical tissue was well preserved 4 weeks after transplantation, without showing any sign of rejection when a combination of pre-transplant culture of the adrenal tissue and temporary cyclosporine treatment of the recipients was used.
 ...
PMID:Transplantation of parathyroid, adrenal cortex and adrenal medulla using procedures which successfully prolonged islet allograft survival. 208 53

A case of a 29-year-old woman with idiopathic hypoparathyroidism was reported. There were neither endocrine nor neurological disorders among her family, except for her mother's hearing loss. She had been suffering from insulin-dependent diabetes mellitus since 21 years of age, and was noticed to be hard of hearing for several years, but never been examined. At the age of 27, choreic movement on her left upper limb and gait disturbance appeared. A year before admission, gait disturbance gradually developed and she could not walk any more. On admission, her height was 137.2 cm and her weight 36.5 kg. She had a round face, uneven teeth and borderline metacarpal sign on her right hand. On neurological examination, Parkinsonism, bucco-lingo-masticatory dyskinesia and bilateral extensor planter reflex were present, but tetany was not observed anywhere. Serum calcium was 3.9 mEq/l, and serum phosphorus 5.3 mEq/l. A CT scan of brain revealed calcifications in the bilateral basal ganglia and thalami, low density area in the left putamen, and atrophy of both caudate nuclei. Serum PTH was less than 100 pg/ml. Ellsworth-Howard's test showed hyperresponsiveness in the secretion of urinary phosphorus and cyclic-AMP. Other endocrinological studies showed no abnormality except for hyporesponsiveness in the secretion of insulin on glucose tolerance test. On the basis of these results, a diagnosis of idiopathic hypoparathyroidism with insulin-dependent diabetes mellitus was made. Administration of alfacalcidol returned serum calcium and phosphorus to normal with considerable clinical benefit. Parkinsonism was gradually improved and she became to be able to walk with a cane after one year of treatment. But buco-lingo-masticatory dyskinesia were not reduced.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[A case of idiopathic hypoparathyroidism with extrapyramidal signs and insulin-dependent diabetes mellitus]. 222 58

Iron-chelating treatment is indicated in all children on prolonged transfusion therapy (i.e., chiefly patients with thalassemia and Blackfan-Diamond anemia). The purpose of iron-chelating treatment is to prevent the development of manifestations of iron overload including cardiac hemosiderosis and insulin-dependent diabetes mellitus (which are two potentially fatal complications), hepatic cirrhosis, hypoparathyroidism, hypothyroidism, and delayed puberty. Deferoxamine is the only effective iron-chelating agent and should be given in a daily dose of 40 mg/kg at initiation of the transfusion program. Administration is by subcutaneous infusions from 8 to 10 hours per day. The goal of iron-chelating treatment is to maintain serum ferritin levels between 500 and 1,000 ng/ml. This long-term treatment is a significant burden for patients and it can be hoped that non-toxic iron-chelating agents, active by mouth, will become available.
 ...
PMID:[Iron chelation in children]. 268 51

In summary, there are a number of important respiratory manifestations of endocrine diseases. Hypothyroidism may be associated with respiratory failure that can be caused by a reduction in central respiratory drive, upper airway obstruction, and associated restrictive pulmonary function from pleural effusions or an intrinsic decrease in lung volumes. Hyperthyroidism can present with dyspnea as a major clinical manifestation because of the increase in central respiratory drive associated with thyrotoxicosis. Cardiac dysfunction associated with hyperthyroidism may lead to pulmonary edema in some patients. Hypoparathyroidism may occur acutely, especially after thyroid surgery and be associated with hypocalcemia and acute tetany, laryngeal stridor, and muscle weakness. Ovarian tumors, both benign and malignant, may present with unilateral or bilateral effusions. Finally, patients with diabetes mellitus are at increased risk of developing a variety of pulmonary disorders. Acute and chronic pulmonary infections are the most common respiratory abnormalities in patients with diabetes, although cardiogenic and noncardiogenic pulmonary edema can also be a complication of their disease.
 ...
PMID:Pulmonary manifestations of endocrine and metabolic disorders. 268 69

Sixty three patients with chronic candidiasis of external genitalia (CCEG) were studied. There was no evidence of hypoparathyroidism or adrenal failure in females with CCEG. The possible role of documented hypothyroidism or diabetes mellitus in these patients' condition should be considered. Though the impairment of the B-or T-immune systems failed to be revealed in the aforementioned patients, some of them demonstrated autoimmune processes in some endocrine glands without any significant impairment of their functional performance.
 ...
PMID:[Functional status of the endocrine and immune systems in women with chronic candidiasis of external genital organs]. 280 68

Recent evidence suggests that the protein osteocalcin is like the bone alkaline phosphatase produced by osteoblasts and circulates in human blood. With the introduction of a radioimmunoassay for serum osteocalcin it was hoped that this test would provide a useful index of altered bone metabolism. Therefore serum osteocalcin was measured in 88 controls and 112 patients with disorders of calcium and phosphate metabolism, isolated elevation of alkaline serum phosphatase in the absence of disease (isolated hyperphosphatasaemia) and children prone to osteopenia. In the controls serum osteocalcin was higher in children less than 15 years (median and range: 11.9, 7.7-15.3 ng/ml) than in adults (3.7, 2.6-5.2 ng/ml) and was highly correlated to alkaline serum phosphatase activity (r = 0.87, n = 88, P less than 0.01). Osteocalcin was elevated in primary hypoparathyroidism, low in untreated hypoparathyroidism but normal in hypoparathyroidism (including pseudohypoparathyroidism) during vitamin D treatment. The bone protein was low-normal and increased to high-normal levels during vitamin D therapy in vitamin D deficiency rickets and familial hypophosphataemic rickets, but remained low in patients with end organ resistance to 1,25-dihydroxyvitamin D. Osteocalcin (and urinary hydroxyproline) were not elevated in isolated hyperphosphatasaemia, indicating that mechanisms other than increased bone turnover may account for the markedly elevated serum alkaline phosphatase activity in these subjects. Osteocalcin was decreased in children with diabetes mellitus type I and in patients on glucocorticoid treatment, indicating decreased bone formation. It is concluded that the measurement of serum osteocalcin seems to be a reliable index of bone formation provided that the vitamin D status and renal function are normal.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Evaluation of serum osteocalcin as an index of altered bone metabolism. 301 28

We studied HLA-A, -B, -C, and -DR antigens in 45 patients (from among 34 families), aged 10.2-60 yr, with polyglandular autoimmune disease type I (APG I) and in other family members. HLA-A28 was more frequent in the patients (25%) than in unaffected siblings (16%; P less than 0.05) or in normal Finnish subjects (8.8%; P less than 0.005, corrected P less than 0.2). Compared with the normal subjects, HLA-A28 was more frequent in the patients with hypoparathyroidism (31%; P less than 0.001, corrected P less than 0.04), adrenocortical failure (27%; P less than 0.01), insulin-dependent diabetes mellitus (IDDM; 66%; P less than 0.01), keratopathy (53%; P less than 0.001, corrected P less than 0.04), and alopecia (40%; P less than 0.001, corrected P less than 0.04), but not in the patients with ovarian failure (9%; P = NS). HLA-A28 was more frequent in the patients with hypoparathyroidism (31%) than in APG I patients without it (13%; P less than 0.005, corrected P less than 0.2). It was also more frequent in the patients with IDDM (66%) than in those without it (21%; P less than 0.05). HLA-A3 was more frequent in the patients with ovarian failure (82%) than in APG I patients with normal ovarian function (22%; P less than 0.025) and in normal subjects (45.5%; P less than 0.05). HLA-A9 was less frequent in the patients with ovarian failure (0%) than in those with normal ovarian function (55%; P less than 0.005, corrected P less than 0.2), and it was less frequent (P less than 0.025) in the patients with adrenocortical failure than in those with normal adrenal function. No association was found with any single DR antigen, but of 4 DR-typed IDDM patients, 3 were DR3 or DR4 positive (P = NS). The occurrence of adrenocortical failure, but not hypoparathyroidism, was familial and associated with HLA haploidentity among sets of affected siblings.
 ...
PMID:The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR. 316 97

Endocrinologic disorders occasionally manifest themselves by their associated or induced cutaneous abnormalities. In some instances the initial and most prominent complaints of the patient are related to alterations in the skin, and thus the dermatologist will at times be the first physician consulted. In this article we describe the cutaneous lesions that occur in patients with acromegaly, hypopituitarism, hypothyroidism, hyperthyroidism, diabetes mellitus, glucagonomas, hypercalcemia, hypoparathyroidism, and fibrous dysplasia. In addition, we also discuss the role of the skin in vitamin D metabolism. Whenever possible and where known, we have attempted to point out the pathophysiologic mechanisms that account for the cutaneous changes.
 ...
PMID:Endocrine-skin interactions. Cutaneous manifestations of pituitary disease, thyroid disease, calcium disorders, and diabetes. 332 73

The inherited susceptibility to autoimmune Addison's disease was found to be strongly associated with human leukocyte antigens (HLA)-DR3 and DR4 alleles. In a study of 45 white patients from the United States with the disease, the relative risks (the number of times that an individual is at risk for Addison's disease if they had a marker, compared to those without such marker) were found to be 6.0, 4.6, and 26.5 for the DR3 allele, the DR4 allele, and for DR3/DR4 heterozygotes, respectively. Frequencies of DR2, DR5, and DR7 in the patients with Addison's disease were significantly decreased in comparison to 265 individuals in the control population. These HLA-DR frequencies in patients with Addison's disease were similar to those for 723 patients with insulin-dependent diabetes (IDD). However, the above HLA-DR associations persisted even when only data from the 37 patients with Addison's disease who did not have IDD were considered. Adrenocortical autoantibodies in 23 patients with IDD who did not have Addison's disease were equally frequent among those with DR4 and DR3 alleles. In contrast, HLA-DR frequencies in 17 patients with type I autoimmune polyglandular syndrome (chronic mucocutaneous moniliasis, hypoparathyroidism, Addison's disease, etc.) were not different from control. We conclude that genetic susceptibility to autoimmune Addison's disease may involve the same HLA-associated genetic determinants as IDD, except when Addison's disease occurs as part of type I autoimmune polyglandular syndrome.
 ...
PMID:Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. 348 49


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