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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The results of clinical and biochemical investigations on a girl with all obligatory signs of Mauriac syndrome already in infancy were compared with the different hypotheses suggested in order to explain the pathogenesis of this disease. One possible explanation for the origin of MS might be a decreased sensitivity of adenylate-cyclase to glucagon or adrenalin. Hypersensitivity to insulin, resulting in a decreased production of cyclic AMP and activation of glycogen synthetase could be excluded by measuring the urine excretion of cAMP with and without insulin. Furthermore no signs of dyspituarism were detectable on our case and the hypothesis of MS being a combination of primary glycogenosis and diabetes mellitus could also be refuted. Liver enzyme activities were normal.
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PMID:[Pathogenetic investigations on a case of mauriac syndrome (author's transl)]. 18 11

A juvenile-type diabetic patient of five years standing presented with a mononeuritis and gave a history of painful muscle swelling induced by exertion. Failure of the blood lactate to rise during ischaemic exercise and a normal blood glucose rise following intravenous glucagon confirmed the clinical diagnosis of muscle glycogenosis. The association of diabetes and McArdle's Syndrome has not previously been documented. An ulnar nerve palsy, which persisted for many months, followed the ischaemic exercise test possibly due to compression by muscular swelling, but may have been exacerbated by the co-existing diabetes.
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PMID:Neuropathy in a patient with McArdle's syndrome and diabetes mellitus. 27 Apr 56

The benign tumors hepatic adenoma and focal nodular hyperplasia are compared in their etiology, differential diagnosis, risk of transformation, and management. Hepatic adenomas range in size from 1-30 cm, averaged 8-10 cm in diameter, contain vacuoles and glycogen, but no Kupfer cells or bile ducts. Adenoma is usually symptomatic, causing pressure or hemorrhage. The risk of developing adenoma is increased with duration of oral contraceptive use, and chance of a larger tumor, a hemorrhage and mortality during pregnancy or surgery is also increased in pill users. Adenoma also occurs in people with Type Ia glycogen storage disease, and is associated with insulin-dependent diabetes. Often stopping oral contraceptives will cause an adenoma to regress. If not, It is best managed by elective resection, with 1% mortality, rather than 5-10% mortality due to spontaneous rupture. Adenomas can progress to adenomatosis, which are inoperable, or malignant transformation. Focal nodular hyperplasia is marked by a stellate scar, sometimes accompanied by hemangioma, but is asymptomatic. It is not increased in oral contraceptive users, but occurs in older women. It can transform to fibrolamellar hepatocellular carcinoma. The 2 benign lesions can be distinguished by radionuclide scanning and angiography. Only fine needle aspiration is advised for biopsy, because of the risk of hemorrhage with adenoma. Focal nodular hyperplasia takes up radionuclide, stains intensely on angiography, and is safe to biopsy percutaneously.
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PMID:Hepatic adenoma and focal nodular hyperplasia. 165 55

A prospective study of 14 patients (ages 6 months to 33 years) with glycogen storage disease, Type I (GSD-I) was carried out in order to define the character and frequency of renal dysfunction. A marked increase in the glomerular filtration rate (GFR) was documented in virtually all subjects, with the mean GFR raised by approximately 50%, to the range of 170 ml/min/1.73 m2. While this constituted the only renal abnormality found in the younger patients, a significant increase in urinary albumin excretion was seen in three teen-aged individuals; three patients over 20 years of age exhibited frank proteinuria (2 to 8 g/day). Renal biopsy on two of the proteinuric subjects revealed focal and global glomerulosclerosis and interstitial fibrosis. Evaluation of factors known to cause an increase in GFR did not define the precise etiology for its elevation in GSD-I. These studies suggest that: (1) glomerular damage and chronic renal disease are common in older patients with GSD-I; (2) the renal injury appears to be specifically related to GSD-I and is not secondary to the treatment of the disease; and (3) the natural history of the renal lesion in GSD-I may be analogous to that seen in insulin-dependent diabetes, with a "silent" period where hyperfiltration is the only demonstrable renal abnormality, followed by evidence of increasing glomerular damage progressing from microalbuminuria to frank proteinuria.
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PMID:Hyperfiltration and renal disease in glycogen storage disease, type I. 267 67

Histologic findings are presented of 28 biopsies taken from 19 insulin-dependent children of either sex with long-standing diabetes who developed the Mauriac syndrome or forms frustes of it. Using this comprehensive material, probably the largest series of biopsies related to this problem, a detailed survey is given on morphologic liver findings associated with this rare type of chronic-diabetic decompensation of metabolism. Behaviour and extent of fat and glycogen deposits, including nuclear liver glycogen, showed marked variations. Not in all cases hepatomegaly, the main clinical symptom, was reflected by corresponding histologic findings. Liver glycogenosis alone is not pathognomonic of the Mauriac syndrome. In the decompensation phase of the disease however, liver glycogenosis is found fairly frequently, whereas in the recompensation phase hepatocytic lipid deposits are a common finding.
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PMID:Bioptical liver changes in Mauriac syndrome. 728 38

Type V hyperlipoproteinemia is an unusual entity in children. Only 6 cases have been described so far to our knowledge. Authors present a 9 year old male that came for diagnosis of a hepatosplenomegaly. There was no evidence of abdominal pain, xanthomas or pancreatitis. Secondary disorders such as uncontrolled insulinopenic diabetes mellitus, glycogen storage disease, administration of estrogen compounds, nephrotic syndrome or uremia, and dysglobulinemias were excluded. His father presented the same lipoprotein pattern suggesting a dominant mode of inheritance. The administration of heparin showed a good response of serum proteinlipase.
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PMID:[Primary hyperlipoproteinemia in childhood (author's transl)]. 728 88

The glycogen storage disorders (GSD)-I, -III, -VI and -VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol levels are generally accepted as a significant risk factor for coronary heart disease. However, clinical data show that one has to differentiate between metabolic conditions where triglycerides are atherogenic and those which are not significantly related to early onset of atherosclerosis but may cause other disorders such as pancreatitis. Among the disorders of carbohydrate metabolism patients with diabetes mellitus frequently have enhanced plasma triglycerides associated with a higher risk for coronary heart disease, while patients with certain types of glycogen storage disease have high triglyceride levels but do not seem to have an enhanced risk for atherosclerosis. Here we have compared the biochemical abnormalities and the atherogenic risk of three different disorders of glucose metabolism including GSD-I (glucose-6-phosphatase deficiency), favism (glucose-6-phosphate dehydrogenase deficiency), and diabetes mellitus which are related to either hyper- or hypolipidaemia. The available data indicate that glucose-6-phosphate (Glc-6-P) is a central molecule in cellular glucose metabolism which critically influences pentose phosphate cycle activity and, via NADPH2-generation, regulates glutathione peroxidase activity for radical detoxification and also cholesterol and triglyceride synthesis. Radical detoxification is a major protective factor for cell membrane integrity and together with an appropriate renewal of membrane lipids may protect against the development of atherosclerosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia. 831 30

Two adult patients with type I glycogen storage disease (I-GSD) had chronic renal disease with heavy proteinuria. Renal biopsies showed focal glomerular sclerosis, interstitial fibrosis, tubular atrophy or vacuolation, and prominent arteriosclerosis. Marked glomerular hypertrophy was demonstrated histometrically. Oil red O staining in one patient revealed numerous lipid deposits in the glomerular mesangium, tubular epithelial cells and interstitium. Electron microscopy in the other patient revealed diffuse thickening of the glomerular basement membrane (GBM) and lipid droplets within the mesangium. The glomerular hypertrophy, thickening of the GBM, and subsequent sclerosis were similar to those in insulin-dependent diabetes mellitus. These findings may explain the similarities between the natural histories of renal involvement in the two disorders. Particularly, glomerular hypertrophy may be a key step leading to glomerular sclerosis, which is the predominant finding I-GSD. Hyperlipidemia, which is commonly seen in I-GSD, may also accelerate the glomerular sclerosing process.
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PMID:Renal histology in two adult patients with type I glycogen storage disease. 844 18

A.B.R. was employed to examine auditory pathways in a group of 78 newborn infants at risk and one of 20 normal infants. The impaired newborn group suffered of various risk factors or pathologies: 20 premature infants, 12 undersize (small for date), 12 with breathing distress, 11 hiv positive, 5 with neonatal jaundice, 4 suffered of convulsion, 4 at risk for hereditary deafness, 4 born by mothers with mellitus diabetes, 2 with dolichocefalia, 1 with the Albers-Schomberg syndrome, 1 with congenital heart disease and 1 with congenital glycogenosis. The results of A.B.R. of the risk group were compared statistically employing the "t Student's test" with those of the group of normal infants. The influence of risk factors in the first group on alterated A.B.R. parameters was then examined using a step-by-step logistic regression analysis method. The result showed a significant increase in a latency of waves V and III and inter-waves I-V and III-V in risk infants, while wave I and I-III internals were normal. These findings appear to demonstrate that in infants at risk, brainstem acoustic pathways are more sensitive to damage than the cochlea and acoustic nerve. This could be explained by the different degree of maturation that exists between the central acoustic pathways and the coclea and acoustic nerve. Analysis of the influence of pathologies and risk factors on A.B.R. indicate that birth weight followed by chronological age and length of the gestation period are significant in the development of A.B.R. alterations. The Albers-Schomberg syndrome, dolicocephalia, microcephalia, congenital glicogenosys, hiv infection, breathing difficulty and neonatal jaundice proved to be the main pathologies responsible for bringing about A.B.R. alterations.
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PMID:[The study of factors affecting ABR in high risk newborn infants]. 892 57

In adults with diabetes mellitus, hepatomegaly and abnormalities of liver enzymes occur as a consequence of hepatocellular glycogen accumulation, as has been well described in children. During periods of hyperglycemia glucose freely enters the hepatocytes driving glycogen synthesis, which is augmented further by administration of insulin to supraphysiologic levels. The accumulation of excessive amounts of glycogen in the hepatocytes is a function of intermittent episodes of hyperglycemia and hypoglycemia and the use of excessive insulin. Hepatic glycogenosis occurs in patients with poorly controlled insulin-dependent type I or type II diabetes. The clinical manifestations of this phenomenon may include abdominal pain and obstructive symptoms such as early satiety, nausea, and vomiting. Ascites has rarely been reported. The typical biochemical findings are mildly to moderately elevated aminotransferases, with or without mild elevations of alkaline phosphatase. Liver synthetic function is usually normal. All these abnormalities, including the hepatomegaly, are readily reversible with sustained euglycemic control. The other major cause of hepatomegaly in patients with diabetes is steatosis. This is a function of the body habitus and state of insulin resistance rather than glycemic control. However, the distinction between steatosis and glycogenosis is important: whereas steatosis may progress to fibrosis and cirrhosis, glycogenosis does not, but reflects the need for better diabetic control. Glycogenosis and steatosis cannot be distinguished reliably on ultrasound examination. The histology, however, is definitive. In glycogenosis, as in primary glycogen storage diseases, there is excess glycogen in the cytoplasm, and often also in the nucleus, of hepatocytes. The hepatocytes throughout the lobule appear pale and swollen with clearly defined cell boundaries. Ultrastructural examination reveals cytoplasmic glycogen in clumps displacing organelles to the periphery of the cell, and there is little if any steatosis. We have shown that hepatomegaly due to glycogenosis in adults with diabetes is similar in all respects to the condition seen in children. As in children, liver enzyme abnormalities are unreliable in predicting the presence or the extent of glycogenosis. Hepatic glycogenosis can occur at any age, and therefore should be included in the differential diagnosis of hepatomegaly in all insulin-requiring diabetics.
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PMID:Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes. 898 49


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