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Results for “DEFICIENCY DISEASES”

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At least 253 records · Page 14Linked to original sources
PubMed1978

Clinical and experimental transplantation in enzymatic deficiency disease.

Allotransplantation provides another strategy for the treatment of metabolic diseases. In disorders which primarily affect a specific tissue or organ, appropriate allografts have already proved therapeutically effective. Most of these diseases presumably result from dominantly inherited structural genetic defects. Metabolic transplantation, the grafting of tissues for the continuous production of the normal gene products, can provide effective treatment in appropriate, inherited, metabolic diseases. However, it must be emphasized that this approach is exploratory, and further studies in experimental model systems must be continued. Future advances in immunology and transplantation biology may increase the potential effectiveness of allotransplantation for the treatment of metabolic diseases.

Animals↗
PubMed1986

Iodine deficiency disease in the GDR.

In the last decade several epidemiologic surveys were carried out in the GDR. The findings of all studies indicate consistently that the goiter is existing in the whole country increasing from the north to the south. Inhabitants of all ages are involved. The main cause appears to be an iodine deficiency of grade II. In the south of the GDR more than 90% of the groups examined are subjected to it. The introduction of iodinated salt prophylaxis is going on. An Interdisciplinary Iodine Commission has been established to control and coordinate these measures.

Adolescent↗
PubMed1980

Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease.

Activated protein C is an anticoagulant plasma protease enzyme that inactivates Factors V and VIII in plasma. Normal plasma contains a protein that inhibits activated protein C and that is distinct from previously described plasma protease inhibitors. Protein C inhibitory activity is not detectable in plasmas from four unrelated patients with combined Factor V/VIII deficiency but is present in normal amounts in plasmas from patients with simple factor V deficiency or Factor VIII deficiency. It is suggested that the molecular basis for combined Factor V/VIII deficiency that exhibits simple autosomal recessive inheritance is a deficiency of protein C inhibitor.

Blood Proteins↗
PubMed1981

Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

A girl with congenital limb weakness, mental retardation, and corneal ulceration died with respiratory insufficiency at age 4 years. Histochemistry of muscle biopsy showed only nonspecific myopathy, but electronmicroscopy revealed subsarcolemmal and intramyofibrillar accumulation of glycogen. Biochemical studies showed increased glycogen content of muscle with lack of phosphofructokinase. Phosphorylase b kinase activity was about 30% of normal. The relationship of the double enzyme deficiency to this unusual clinical picture is unclear.

Biopsy↗
PubMed2005

Association of 1.25 vitamin D3 deficiency, disease activity and low bone mass in ankylosing spondylitis.

Vertebral fractures due to osteoporosis are a common but frequently unrecognized complication in established ankylosing spondylitis (AS). It is known that inflammatory activity in rheumatic diseases (i.e., proinflammatory cytokines) itself plays a possible role in the pathophysiology of bone loss. The aim of this study was to analyze whether inflammatory activity and an alteration of the vitamin D metabolism play a substantial role in the loss of bone mass in AS. In this cross-sectional study, 58 patients with established AS and an age- and sex-matched control group were examined. The vitamin D status was investigated, as was, in parallel, the relationship to disease activity (erythrocyte sedimentation rate [ESR], C-reactive protein [CRP], Bath Ankylosing Spondylitis Disease Activity Index [BASDAI]), markers of bone metabolism (parathyroid hormone [PTH], 1.25 vitamin D3, 25 vitamin D3), calcium, bone alkaline phosphatase (bone-AP), urine cross-links, and plasma tumor necrosis factor alpha (TNFalpha). Bone mineral density was measured by quantitative computed tomography (QCT) of the lumbar spine. Osteoporosis was diagnosed in early as well as in progressive stages of AS (23/58=39.6%). Furthermore, serum levels of 1.25 vitamin D3 and PTH were negatively correlated with disease activity and TNFalpha. The excretion of cross-links showed a positive correlation with disease activity and TNFalpha, and 1.25 vitamin D3 and PTH were positively correlated with bone-AP. TNFalpha also positively correlated with disease activity. AS patients with osteoporosis showed significantly increased CRP, ESR, cross-links and PTH and a significantly decreased 1.25 D3. Osteoporosis is frequent in AS and high disease activity is associated with an alteration in vitamin D metabolites and increased levels of bone resorption in active AS. Our findings propose a close association of BMD, bone metabolism and inflammatory activity, possibly related to vitamin D inflammation interactions.

Adolescent↗
PubMed2006

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.

Cholesterol is an abundant lipid in eukaryotic membranes, implicated in numerous structural and functional capacities. Here, we have investigated the mechanism by which cholesterol affects secretory granule biogenesis in vivo using Dhcr7(-/-) and Sc5d(-/-) mouse models of the human diseases, Smith-Lemli-Opitz syndrome (SLOS) and lathosterolosis. These homozygous-recessive multiple-malformation disorders are characterized by the functional absence of one of the last two enzymes in the cholesterol biosynthetic pathway, resulting in the accumulation of precursors. Cholesterol-deficient mice exhibit a significant decrease in the numbers of secretory granules in the pancreas, pituitary and adrenal glands. Moreover, there was an increase in morphologically aberrant granules in the exocrine pancreas of Dhcr7(-/-) acinar cells. Regulated secretory pathway function was also severely diminished in these cells, but could be restored with exogenous cholesterol. Sterol precursors incorporated in artificial membranes resulted in decreased bending rigidity and intrinsic curvature compared with cholesterol, thus providing a cholesterol-mediated mechanism for normal granule budding, and an explanation for granule malformation in SLOS and lathosterolosis.

Animals↗