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

During a prospective screening for proteinuria in diabetic patients, isolated Bence-Jones proteinuria was detected in 2 cases. The first patient, a 52-year-old black female, was seen for evaluation of a slow but progressive weight loss which was attributed to poor adjustment of insulin therapy. The patient gained weight after an increase of the daily insulin administration. She had plasmocytosis in a bone marrow aspirate, but no other evidence of myelomatosis. The second patient, a 59-year-old black male who was seen for routine evaluation of his diabetes, had no clinical or laboratory evidence of myelomatosis. Although precise definition of these cases as "benign" or "idiopathic" Bence-Jones proteinuria is impossible without prolonged follow-up, at the time of presentation they appeared to fit this classification. This observation is one further example that isolated Bence-Jones proteinuria may be seen without any evidence of malignant B-cell dyscrasia.
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PMID:"Idiopathic" Bence-Jones proteinuria. 10 Oct 13

Baboon and human articular and growth cartilage was extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8M urea pH 6.8 the proteins were separated from proteoglycans by ion-exchange chromatography. The concentrated and reduced protein fractions was analyzed by SDS-PAGE. Bands corresponding to collagen and to 6 major non-collegenous proteins were found. Two of the latter were identified with the link-proteins. By using small columns and microconcentration procedures, a gel-electrophoretic analysis of link-proteins extracted from small pieces of cartilage was performed and ten cases of osteochondrodysplasias were studied. No abnormalities were detected in the following syndromes: achondroplasia, diastrophic dwarfism, thanatophoric dwarfism, Jeune disease, spondyloepiphyseal dysplasia congenita, Kozlowski syndrome, osteogenesis imperfecta, polyepiphyseal dysplasia with diabetes mellitus.
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PMID:Link-proteins and non-collagenous proteins from normal and chondrodysplastic cartilages. 11 15

Fifty-seven cases admitted to the Karolinska Hospital 1973-1976 with the diagnosis transient cerebral ischemia were reviewed. Seventeen cases were excluded as not fulfilling the strict TIA definition. An analysis of the records and the supplementary questionnaire of the remaining cases showed considerable sex differences in the stroke-prone profile. In the male group arteriosclerosis in the extracranial cerebral arteries was demonstrated in 90% of these examined by angiography. In the female group factors recognized as interfering with the coagulation system were obvious in more than 70% and two women had fibromuscular dysplasia. These differences may have therapeutic and prognostic implications. In the total material only 35% had hypertension. Diabetes was not present in any of the patients. Of the men 46.6% had abnormal blood lipids against 15.4% of the women. Seventy-five percent of the patients with verified arteriosclerosis were regular smokers. At a mean follow-up time of 18.7 months only one patient, in the untreated group, developed completed stroke.
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PMID:Pathogenetic profile of TIA before 55. A three-year investigation. 68 66

In ten previously undiagnosed patients, we have found erstwhile-"primary" nonhereditary amyloidosis as an overlooked cause of a predominately sensory, painful, and hyperesthetic distal neuropathy occurring in middle-age and older patients. These symptoms, associated with orthostatic hypotension, diarrhea or constipation, cardiac abnormality, and male impotence are virtually diagnostic (in the absence of diabetes mellitus). Tissue diagnosis is quickly made by crystal-violet metachromasia of amyloid in fresh-frozen sections of a muscle biopsy specimen. Immunoglobulin and bone marrow evidence of plasma cell dyscrasia in eight of the ten patients suggests that the neuropathy in this form of amyloidosis is actually secondary to a plasma-cell-originating dysproteinemia. Therapy with melphalan and prednisone was not of benefit.
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PMID:Amyloidosis with plasma cell dyscrasia. An overlooked caused of adult onset sensorimotor neuropathy. 84 55

West, R. J., Lloyd, J. K., and Turner, W. M. L. (1975). Archives of Disease in Childhood, 50, 703. Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. A syndrome comprising unusual facies, dry skin, acanthosis nigricans, thickened nails, hirsutism, dental precocity and dysplasia, abdominal protuberance, and phallic enlargement is described in 2 sibs. Both have developed diabetic ketoacidosis with insulin resistance. The elder child, a girl, had recurrent septic episodes and died at the age of 7-8 years. At necropsy the pineal gland was hyperplastic, weighing 900 mg. Investigation of the younger sib over a 4-year period has shown decreasing glucose tolerance, and he was frankly diabetic with ketoacidosis by the age of 6-8 years. Serum insulin concentrations have always been grossly raised. Though the mechanism for insulin resistance has not been definitely established, a functional abnormality of the hypothalamus or pituitary is postulated to explain the many endocrine features of the syndrome.
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PMID:Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. 119 Aug 20

We present the unusual case of a 17-year-old female with insulin-resistant diabetes, acanthosis nigricans, hirsutism, amenorrhea, dental dysplasia and lipopexia on the extremities. She had been diagnosed as having border line diabetes with hyperinsulinemia at age 12 when she was not obese and diabetes mellitus at age 13. On admission, she was obese and had lipopexia only on the extremities. The presence of hyperinsulinemia and poor response to exogenous insulin suggested severe insulin resistance. Insulin binding to transformed B-lymphoblasts derived from her was extremely low compared to the normal control, showing decreased receptor affinity. Her parents and sister exhibited hypersecretion of insulin in response to a 75 g oral glucose tolerance test. Her mother was diabetic, and her father and sister had border line diabetes, whereas her brother had a normal response. These findings support strongly the diagnosis of a type A syndrome with severe insulin resistance associated with lipopexia on the extremities. A genetic defect in the insulin receptor gene may be responsible.
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PMID:Type A-insulin resistance with lipopexia on extremities: a case report. 144 50

We experienced 41 cases of Cushing's syndrome (12 males and 29 females, 15 years old - 65 years old) during the last 20 years. These included 20 patients with unilateral adrenal adenoma (Cushing's syndrome), 19 patients with bilateral adrenal hyperplasia (Cushing's disease), one patient with adrenal carcinoma and one patient with primary adrenocortical nodular dysplasia (PAND). Moreover, these cases included some special ones, i.e. 5 cases with destructive thyroiditis after treatment, 2 cases with aggravation of arthritis after treatment, a case of Carney's complex with PAND, one case with paradoxical response to dexamethasone, and one case combined with empty sella syndrome. The most specific clinical signs were moon face (95% occurrence), hypertension (95%) and subcutaneous bruising (80%). Other significant signs were eye edema (66%), buffalo hump (68%), subcutaneous purpura (63%) and osteoporosis (49%). Skin striae was not a common sign in our cases (41%). Renal stone was observed in only 20% of our patients but was a significant sign in this syndrome. There was no difference in the occurrence of each clinical sign between Cushing's syndrome and Cushing's disease. The elevation of white blood cell count (WBC) and serum sodium, a decrease of serum potassium, and a decrease of reabsorption of phosphate (%TRP) were observed. Thyroid-stimulating hormone (TSH) and human growth hormone (HGH) were suppressed in patients with Cushing's syndrome and patients with Cushing's disease. These results were consistent with those of previous reports. However, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and prolactin (PRL) were high in those patients with Cushing's syndrome and those with Cushing's disease. Oral glucose tolerance test was carried out in 34 patients before and after treatment. Thirty-one percent of those had diabetes mellitus and 26% had impaired glucose tolerance (IGT). The response of IRI in this test was high in patients with Cushing's syndrome and patients with Cushing's disease, and decreased 4 weeks after treatment in those with Cushing's syndrome but remained high in those with Cushing's disease. Plasma ACTH level and urinary 17-OHCS excretion were significantly higher in Cushing's disease than in Cushing's syndrome. During an 8mg-high-dose dexamethasone suppression test, urinary 17-OHCS excretion in 13 of 14 patients with Cushing's disease (93%) was suppressed by more than 50% of baseline on the second day of testing. However, all of 18 patients with Cushing's syndrome, who had an 8mg-dexamethasone suppression test, failed to suppress urinary 17-OHCS by 50% of baseline.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Forty-one cases of Cushing's syndrome: a comparison between Cushing's syndrome (adrenal adenoma) and Cushing's disease (adrenal hyperplasia)]. 163 31

Pancreatic adenocarcinoma occurred in 22 of 266 patients with tropical pancreatitis presenting over an 8-yr period (8.3%). We compared the data on three groups: group 1, patients with tropical pancreatitis (benign, n = 82); group 2, tropical pancreatitis with super-imposed malignancy (n = 22), and group 3, those with de novo cancer (n = 76). Factors associated with high risk for cancer in tropical pancreatitis were age greater than 40 yr, short symptom duration, weight loss, mass on ultrasound, and ductal block on endoscopic retrograde cholangiopancreatography. Tropical pancreatic cancers had distinct differences from de novo cancers: younger mean age (47 vs. 61 yr), calculi in all (vs. none in group 3), diabetes in 16 of 22 (73%) versus 18 of 76 (24%), and tumors in body and tail in 16 of 22 (73%) versus 26 of 76 patients (34%). In group 2, survival was poorer (10 vs. 17 months, p less than 0.01) than in group 3 (those with de novo cancer). Two of five resected specimens in group 2 showed features of dysplasia, in addition to cancer. Tropical pancreatitis has a high association with cancer. Malignancy occurring in tropical pancreatitis is distinct from de novo cancer. When considered in the light of the low incidence of pancreatic cancer in southern India, the above evidence suggests a possible etiological relationship.
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PMID:Is tropical pancreatitis premalignant? 164 1

A kindred with a diabetic mother is described with one sibling with a radial deficiency (type 1 radial dysplasia (Bayne) with a hypoplastic thumb type 3 of Blauth) and one with an ulnar ray deficiency (type 2 of Ogden or type 1 of Swanson). A metabolic cause is probable, although the diabetes was well controlled during pregnancy.
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PMID:Radial ray deficiency and ulnar ray deficiency in two sibs. 164 17

Two unrelated male infants presented with brittle insulin-dependent diabetes mellitus in the first days of life. Subsequently they each developed severe secretory diarrhea, with stool volumes of more than 100 ml/kg/day. Extensive biochemical and serological investigation failed to reveal the etiology of the diarrhea. The infants, cared for at different institutions, underwent therapeutic trials of various agents including loperamide, cholestyramine, prednisone, indomethacin, and somatostatin analogue, without response. Both infants succumbed to septicemia and malnutrition related to diarrhea and poor control of glycemia. At autopsy, both were found to have absence of islets of Langerhans in the pancreas, and diffuse dysplastic changes in small and large intestinal mucosae. In particular, the entire alimentary tract in each case was lined by epithelia most typical of foregut mucosa: secretory-type glands, absent crypts of Lieberkuhn, and absent villi. These cases are contrasted with previously-reported infants with congenital diabetes mellitus, and the possible interrelation of these two highly unusual findings, congenital diabetes mellitus and diffuse intestinal dysplasia, is examined.
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PMID:Congenital diabetes mellitus and fatal secretory diarrhea in two infants. 177 17


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