1,720,974 research outputs found

    Omocisteina plasmatica e genotipo MTHFR in una popolazione di bambini con ipercolesterolemia familiare eterozigote

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    Livelli aumentati di omocisteina plasmatica sono un fattore di rischio indipendente per patologia cardiovascolare (CVD) in età adulta. L'obiettivo di questo studio è la valutazione dei livelli di tHcy e la correlazione con genotipo MTHFR in una popolazione di bambini con ipercolesterolemia familiare (FH) al primo accesso presso il nostro Centro di Dislipidemie Pediatriche. [...] Conclusioni: nella popolazione di bambini FH abbiamo riscontrato livelli di tHcy sempre nella norma; tali valori aumentano durante la fase puberale, in particolare nei soggetti TT. L'analisi genetica consente dunque di individuare precocemente quei soggetti che, in assenza di supplementazione vitaminica specifica (vitamina B12 e acido folico), svilupperanno iperomocisteinemia moderata in etá adulta

    THERAPY WITH CHOLESTYRAMINE IN CHILDREN : EVALUATION OF SAFETY, TOLERABILITY AND EFFICACY

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    Aim: Cholestyramine, a bile acid sequestrant, reduces serum LDL-cholesterol (C-LDL) but apparently is poorly tolerated for limited palatability. We aimed to evaluate its safety, tolerability and efficacy in children. Methods: In this retrospective study we reviewed the medical records of all hypercholesterolemic children treated with cholestyramine, followed at our Lipid Center from 1996 to 2009. We selected clinical and laboratory data about compliance, side effects and efficacy. Results: Cholestyramine was prescribed to 66 children (out of a total 480), 4 g every other day for one month and then 4 g/day. Lipid profile and coagulation tests were performed 3 months from the beginning of treatment and every 3-6 months afterwards. Drug was adjusted according to C-LDL levels.12/66 patients (18.1%) never started therapy, 11/66 (16.6%) were on therapy for 3-6 months, 43/66 (65.5%) for > 6 months. Low compliant children were more likely to be obese (p < 0.05). Mean reduction of C-LDL was 23.3% after 3 months of treatment (p < 0.01) and a further 5% after 12 months of treatment. Total and non-HDL cholesterol were also significantly lowered. No gastrointestinal adverse effects were reported. 8,6% of children showed triglyceride values greater than 90th percentile. 18.6% had abnormal coagulation tests (PT, aPTT) in the absence of symptoms. Conclusions: In this cohort of patients cholestyramine exhibited optimal safety and tolerability with a strong lipid-lowering effect. Thus we suggest that cholestyramine should not be overlooked as a therapeutic choice for high-LDL dyslipidemias of childhood

    STATIN THERAPY IN A POPULATION OF ITALIAN CHILDREN WITH FAMILIAL HYPERCHOLESTEROLEMIA: EFFECT ON BLOOD LIPID PROFILE

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    Aim: According to Italian Guidelines, statin therapy is recommended for children aged 10 or more who, despite 6-12 months of dietary treatment, present elevated LDL-C levels (LDL-C>190 mg/dl without other risk factors, LDL-C>160 with other risk factors). The aim of this study is to evaluate the effect of one month pravastatin therapy on lipidic profile of a population of chldren with familial hypercholesterolemia followed in our Lipid Clinic. Methods: We investigated a population of 15 children with familial hypercholesterolemia (14 genetical diagnosis, 1 clinical diagnosis; 9M, 6F, 14.6y), already put on a fat restricted diet for 12 months. Blood samples for measurements of lipid profile were collected at baseline and after one month of pravastatin treatment 20 mg/die. The lipid profile at the first determination was (mean values mg/dl): TC 292.3 (sd 39.6), LDL-C 219.7 (sd 46.9), HDL 50.6 (sd 9.9), Tryglicerides 92.8 (sd 46.1). Statistics: paired t-Student test. Results: After one month pravastatin therapy TC, LDL-C and tryglicerides were significantly reduced. Mean(sd) (mean values mg/dl) of TC, LDL-C, HDL-C and tryglicerides before and after treatment were, respectively, 292.3 (39.6) vs 226.8 (31), p < 0.0001; 219.7 (46.9) vs 168.7 (29.3), p< 0.0001; 50.6 (9.9) vs 50.5 (9.3), p = 0.975; 92.8 (46.1) vs 71.9 (28.5), p< 0.05. Conclusions: These preliminary findings suggest that pravastatin therapy, added to dietary and behavioural treatment, can significantly reduce CT, LDL-C and tryglicerides levels in a population of children with familial hypercholesterolemia, with no effect on HDL-C. This positive effect is worth further investigations

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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