1/580. magnesium deficiency in children with urolithiasis.In a group of 57 children with urolithiasis hypomagnesaemia was found in 15 cases (26.3%). All children but one with abnormally low serum magnesium levels had recurrent or bilateral nephrolithiasis or nephrocalcinosis. prevalence of hyperoxaluria and hypercalciuria, marked severity of the clinical features, abnormality of Ca metabolism and its responsiveness to MgO treatment were demonstrable in Mg deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/580. Recurring myocardial infarction in a 35 year old woman.A 35 year old woman presented with acute myocardial infarction without any of the usual risk factors: she had never smoked; she had normal blood pressure; she did not have diabetes; plasma concentrations of total cholesterol and high and low density lipoprotein cholesterol, fibrinogen, homocysteine, and Lp(a) lipoprotein were normal. She was not taking oral contraceptives or any other medication. coronary angiography showed occlusion of the left anterior descending coronary artery but no evidence of arteriosclerosis. Medical history disclosed a previous leg vein thrombosis with pulmonary embolism. Coagulation analysis revealed protein c deficiency. The recognition of protein c deficiency as a risk factor for myocardial infarction is important as anticoagulation prevents further thrombotic events, whereas inhibitors of platelet aggregation are ineffective.- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
3/580. Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.A woman had two pregnancies terminated in the 20th and 21st weeks of gestation after ultrasonographic detection of enlarged hyperechoic kidneys in both fetuses. The combination of polycystic kidneys and steatotic liver found at autopsy suggested glutaric aciduria type II (GA II), which was confirmed by biochemical investigation. GA II or multiple acyl-coa dehydrogenase deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism, which usually results in neonatal death. When pregnancy is terminated because of enlarged hyperechoic kidneys in the fetus, autopsy is crucial for establishing the correct diagnosis. The combination of polycystic kidneys and steatotic liver should bring GA II to mind, and prompt appropriate biochemical investigations so that genetic counselling and first trimester diagnosis can be offered in future pregnancies.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
4/580. Clinical therapeutic conference: recurrent venous thrombotic and thromboembolic disease.Recurrent venous thrombotic and thromboembolic disease, once thought to be an uncommon entity, is increasingly being recognized. Etiologies of recurrent deep venous thrombosis usually include elements of Virchow's triad. Venous stasis (e.g., immobilization, congestive heart failure, acute myocardial infarction, obesity), hypercoagulability (e.g., malignancy, inflammatory bowel disease, hyperhomocysteinemia, protein C resistance, antithrombin iii, protein C or S deficiency) and endothelial trauma (e.g., surgical trauma, venous trauma, in-dwelling venous instrumentation) are risk factors. diagnosis is dependent on objective testing, including venography duplex Doppler (color) ultrasonography and impedance plethysmography. Treatment is usually started with heparin or low-molecular-weight heparin and advanced to warfarin (adjusted to international normalized ratio). Prophylaxis may continue using low-molecular-weight heparin, warfarin, venacaval interruption (Greenfield filter), or concomitant use of the platelet-active agent indobufen and graduated compression stockings.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
5/580. Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy.We describe a dramatic response to antioxidant therapy in three patients with familial lipoprotein lipase deficiency complicated by frequent severe episodes of pancreatitis who had failed to respond to other dietary and pharmacological measures. Antioxidant therapy may be an important advance in the management of this type of patient.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/580. Treatment of cutaneous sarcoidosis using phonophoresis.sarcoidosis is a multiple-system disorder of unknown origin characterized histologically by epithelioid granulomas with little or no necrosis. We describe a 32-year-old female patient with a history of systemic sarcoidosis and common variable immunodeficiency with recurrent, multiple, soft, erythematous and violaceous nodules on the back of her left hand. Her lesions responded to phonophoresis after unsuccessful treatment with topical and intralesional corticosteroids. However, nodules appeared on other parts of her body after phonophoresis was stopped, which suggests that phonophoresis had a localized rather than systemic effect.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
7/580. Antiviral treatment for human immunodeficiency virus patients co-infected with hepatitis b virus: combined effect for both infections, an obtainable goal?A large percentage of human immunodeficiency virus (hiv) patients have serological evidence of a past or present hepatitis b virus infection (HBV). Long-term survival is increasing for hiv patients because of highly active antiretroviral therapy. Therefore, the chronic hepatitis B infection may become an important determinant of disease outcome in these co-infected patients. We describe two hiv/HBV co-infected patients who were treated with extended antiviral therapy, initially indicated for the hiv infection. lamivudine, a suppressor of viral replication in both infections, was one of these antiviral drugs. One patient showed a severe rebound of the HBV after withdrawal of lamivudine, the other patient developed a mutant hepatitis b virus after 18 months of treatment. This mutation was exclusively induced by lamivudine. These patients show that, with improved hiv-related survival, the HBV infection should be monitored carefully, thereby enabling the physician to interfere with therapy when necessary.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/580. A generalized seizure following initiation of nelfinavir in a patient with human immunodeficiency virus type 1 infection, suspected due to interaction between nelfinavir and phenytoin.nelfinavir, one of human immunodeficiency virus (hiv) specific protease inhibitors(PIs), is widely used for the treatment of hiv infection. nelfinavir, which is metabolized with the cytochrome p450 isoforms, elevate the phenytoin level theoretically because nelfinavir acts as an inhibitor of phenytoin metabolism through the enzyme. However, we encountered a case of seizure recurrence caused by a lowered phenytoin level after initiation of nelfinavir. We should be aware of the change in the phenytoin level in concomitant use of nelfinavir.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/580. Familial relapsing haemolytic uraemic syndrome and complement factor h deficiency.BACKGROUND: In a recent study of three families we have found that inherited haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for complement factor h. In one of these families and also in a case of sporadic D-HUS, we have identified mutations in the factor H gene. A further family with inherited HUS has therefore been investigated. methods: dna extracted from the family members and dna extracted from archival post-mortem material from a deceased family member, was studied. review of renal biopsies and study of complement components was also undertaken. RESULTS: This family demonstrates an inherited deficiency of complement factor h. Non-diarrhoeal HUS has affected at least two family members with half normal levels of factor H. CONCLUSION: These findings represent further evidence of the association between factor H dysfunction and HUS.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/580. MR imaging of intraventricular silicone: case report.A 42-year-old man with human immunodeficiency viral infection developed cytomegaloviral retinitis that was complicated by retinal detachment and was treated with an intravitreous injection of silicone. Fifteen months later, magnetic resonance imaging revealed intraocular and intraventricular silicone. Signal intensity characteristics and chemical shifts of silicone in the two locations were identical.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
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