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)

A case of Albright's disease in a 54-yr-old man is presented. A brief account of the nosological placement of the disease is followed by a review of the relevant literature, with particular reference to the clinical, anatomo-pathological, and aetiopathogenetic aspects. The salient points of the reported case were: 1) extensive cutaneous hyperpigmentation; 2) polyostotic fibrous dysplasia involving the skull, humeri, femurs, and pelvis; 3) voluminous bilateral costal cysts, with greater extension on the right; 4) right pleural effusion; 5) diabetes; 6) mental under-development; 7) 1/4 balanced translocation.
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PMID:[Albright's syndrome. Report of a case, complicated by pleural effusion and diabetes]. 707 96

In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. We have observed a brother and sister with the same disorder. The chondro-osseous lesions are those of a spondylo-epiphyseal dysplasia. The diabetes mellitus is relatively mild. Histologic and electron microscopic studies of chondro-osseous tissue show findings similar to those in other epiphyseal and spondylo-epiphyseal dysplasias. In addition, however, atypical collagen-like fibres are found inside and outside chondrocytes. Collagen production seems to be normal in cultured fibroblasts. From the available data it appears that the association of characteristic chondro-osseous and endocrine abnormalities is non-random and that the lesions are independent manifestations of a pleiotropic gene. We propose to call this disorder the Wolcott-Rallison Syndrome.
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PMID:Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia. 709 31

Septo-optic dysplasia was found at autopsy in an infant of a diabetic mother. Optic nerve hypoplasia and holoprosencephaly have been reported in other patients. These findings suggest a propensity for maternal diabetes to affect development of the forebrain. Head circumference should be measured and funduscopic examination performed in all infants of diabetic mothers, and additional tests should be performed as indicated. Mental and motor retardation and hypothalamopituitary dysfunction may be found in these patients.
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PMID:Septo-optic dysplasia in an infant of a diabetic mother. 727 39

A bizarre syndrome has hitherto masqueraded as leprechaunism, and although it is a quite different disorder it has been used as the prototype of leprechaunism in some birth defects atlases. It is proposed that this condition is designated the Patterson syndrome and details of a second case are reported. The features of this connective tissue and neuroendocrine disorder include bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, severe mental retardation, and major bony deformities. Radiographs revealed a unique and gross generalised skeletal dysplasia, unlikely to be confused with any other disorder. This endocrine abnormality comprised hyperadrenocorticism, cushingoid features, and diabetes mellitus in the first case, and premature adrenarche in the second case. The pathogenesis and aetiology of the Patterson syndrome are unknown, although quantitative and qualitative abnormalities of mucopolysaccharide excretion were found in the second case.
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PMID:The Patterson syndrome, leprechaunism, and pseudoleprechaunism. 727 24

Two of eight children born to unrelated parents were found to have cystic renal dysplasia, but no other malformations. A third sibling was presumed to have similar renal disease based upon typical clinical and radiographic findings. In addition to possible genetic causes, maternal diabetes mellitus is suggested as a potential etiologic factor.
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PMID:Familial renal cystic dysplasia associated with maternal diabetes mellitus. 735 Jun 87

1. Approximately half of the pediatric patients received grafts from their parents and half from cadaver donors. Pediatric recipients accounted for only 5% of cadaver-donor transplants. 2. Pediatric patients differed from adults in the incidence of primary disease, principally in the occurrence of diabetes (almost no juvenile diabetics had progressed to renal failure compared with 30% among adults). Obstructive uropathy and dysplasia were the primary diseases for about 37% of pediatric patients compared with 3% in adults. 3. Pediatric patients under the age of one had a markedly lower graft survival with cadaver donors. Such patients had much higher survival rates with parental donor kidneys. 4. Pediatric retransplants from parents had a graft survival comparable to adult grafts. Regraft survival in children given cadaveric kidneys were significantly lower than adult grafts. 5. Patients under the age of 18 with no diuresis on the first day or who required dialysis in the first week had a markedly lower graft survival rate compared with that of adults with comparable early dysfunction. 6. Kidneys from donors under 2 years old yielded a 67% one-year graft survival rate in infants, but an 87% survival in patients 16-18 years of age at 6 selected individual centers. These centers, that had performed more than 20 infant-donor renal transplants, achieved results comparable to those of transplants using grafts from older donors in recipients aged over 11 years. 7. Pediatric patients who received grafts mismatched for 5- and 6-HLA antigens had a significantly lower graft survival rate than those with better matches. 8. Black patients ages 11-18 years old had a lower graft survival rate than White patients in the same age group.
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PMID:Pediatric renal transplantation. 754 71

Two sibs with early onset diabetes and epiphysed dysplasia (Wolcott-Rallison syndrome) are described. The epiphyseal changes were radiologically apparent at 6 months of age in one of them, and both developed insulin dependent diabetes in the first few weeks of life. The clinical and radiological features of this syndrome are reviewed.
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PMID:Wolcott-Rallison syndrome. 755 Nov 59

The authors report the case of a child born at the Fatebenefratelli Hospital in Benevento with spondylo-costal dysplasia (SCD). SCD ia a rare association of vertebral and costal anomalies which was first described in 1938 by Jarcho and Levin. The fundamental characteristic of SCD is the anomalous nature of the vertebrae and ribs and, for this reason, subjects affected by SCD are above all short stature and present major physical malformations. In genetic terms, the pathology can be subdivided into three sub-groups based on the type of transmission: a) a dominant autosomic form, benign evolution; b) a recessive autosomic form, very severe; c) a recessive autosomic version with a relatively benign evolution. The case in question concerned a newborn suffering from severe bodily disharmony with dysmorphic features. Family medical history only showed diabetes mellitus and kyphoscoliosis in the paternal grandfather. The physiological anamnesis was completely negative (born at term, elective cesarean section) except for the fact that the mother had received estroprogestin therapy between the 2nd and 5th month of pregnancy due to partial placenta previa. The radiographic examination of the skeleton showed profound alterations of the vertebral column due to the presence of numerous hemispondyls, multiple costal malformations with segmentary synostosis and brachycephaly.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Jarcho-Levin syndrome. Description of a clinical case with familial 14;21 translocation]. 780 66

Hyperlipidemia and lipoprotein abnormalities are often encountered in patients with nephrotic syndrome or chronic renal disease and also in those undergoing haemodialysis and with renal transplant. Even though the significance of lipid deposition in renal tissue and the role of lipoproteins in the pathogenesis of renal disease in man is unclear, experimental and clinical data indicate a possible damaging effect of a disturbed lipid metabolism on the kidney. In humans, glomerular lipid deposition is observed in genetic diseases such as Fabry's disease, lecithin:cholesterol acyltransferase activity (LCAT) deficiency and arteriohepatic dysplasia, and in diseases with acquired disturbance of lipid metabolism such as nephrotic syndrome and cholestatic liver disease. Studies on animals with lupus nephritis, aminonucleoside nephrosis, reduced renal mass, diabetes mellitus or systemic hypertension have shown that cholesterol can increase the incidence of glomerulosclerosis. As most of these studies have been performed in the rat, which has a different lipoprotein profile to that of man, these results should be carefully interpreted with regard to their relevance for humans. In vitro cell culture studies on human glomerular cells have given some preliminary insights into the cellular mechanisms of lipid induced glomerular damage. Apo E-containing lipoproteins, which are pathologically elevated in many renal diseases, are avidly taken up by human mesangial cells. These cells seem to play a central role in the initiation of glomerulosclerosis by inducing proliferation and production of excess extracellular matrix. Lipoproteins are able to stimulate DNA synthesis in these cells, and increase the synthesis of mitogens and extracellular matrix protein. The pathogenic role of oxidized lipoproteins has not yet been defined. Human mesangial cells do not seem to take up these modified lipoproteins. However, macrophages infiltrate glomeruli and may constitute the stimulus for the generation of minimally modified lipoproteins and their cellular uptake. The data from animal experiments suggest that treatment that corrects hyperlipidemia may have an ameliorative effect on renal function. Thus, there are strong indications that lipoproteins may play a critical role in mediating the development of glomerulosclerosis.
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PMID:The role of lipids in nephrosclerosis and glomerulosclerosis. 794 52

A 37-yr-old woman was admitted to our hospital for evaluation of diabetes mellitus, liver cirrhosis and primary amenorrhea. Serological and hematological examinations revealed that she suffered from hemochromatosis secondary to congenital dyserythropoietic anemia (CDA), characterized by ineffective hematopoiesis and erythropoietic dysplasia. Iron deposition was suggested by MRI on the pancreas, liver and pituitary gland. Endocrinological examinations demonstrated that she had isolated gonadotropin deficiency and ovarian failure, resulting in hypogonadotropic hypogonadism. In addition, despite normal responses of serum cortisol and plasma aldosterone to ACTH and furosemide-standing tests, respectively, serum dehydroepiandrosterone (DHEA) responded poorly to ACTH test, suggesting selective damage of zona reticularis in adrenocortical steroidogenesis in association with hemochromatosis.
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PMID:[Isolated gonadotropin deficiency and secretory discrepancy of cortisol and adrenal androgen by hemochromatosis secondary to congenital dyserythropoietic anemia]. 795 84


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