[Calcium antagonists and blood filterability].
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Biomedical subjects
Publications and source records attributed to F Testa.
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The effects of enalapril on plasma lipoproteins were evaluated in an open study of 12 normolipidemic outpatients with mild-to-moderate essential hypertension (World Health Organization stages I and II). After a two-week washout period, during which placebo was given, the patients received 20 to 40 mg/day of enalapril for 16 weeks. Treatment with enalapril was associated with significant increases in levels of HDL cholesterol (mean, 23%; P less than 0.001) and apoprotein A (mean, 11%; P less than 0.01), largely because of the increase in the subfraction HDL2 (mean, 43%; P less than 0.001), although the subfraction HDL3 also rose (mean, 14%; P less than 0.005). Total cholesterol and LDL cholesterol levels did not change, whereas triglycerides decreased significantly (mean, 26%; P less than 0.001). Apoprotein B was unchanged. Unlike diuretics and most beta-blockers, enalapril favorably affects plasma lipoprotein levels, thus improving the overall cardiovascular risk in hypertensive patients.
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OBJECTIVE: Apolipoprotein E (apoE) is an important regulator of cholesterol and lipid transport during compensatory synaptogenesis. Our purpose was to investigate the role of apoE gene polymorphisms in Italian patients with age-related macular degeneration (AMD). METHODS: We used the polymerase chain reaction technique to analyze apoE genotypes in 87 patients with AMD, in 47 age-matched controls and in 1,287 individuals from a general reference population. RESULTS: The frequency of allele epsilon4 carriers was significantly higher (p = 0.002) in the general population than in AMD patients, while the frequency of allele epsilon2 was higher in the patients (p = 0.069) with an increased risk for AMD in the patients versus the population-based controls (odds ratio = 1.7; 95% confidence interval: 1.0-2.9). Allele epsilon4 was associated with a decreased risk for AMD in the patients versus the population-based controls (odds ratio = 0.3; 95% confidence interval: 0.1-0.8). CLINICAL RELEVANCE: These data suggest that apoE testing may represent a tool for the evaluation of the relative risk of AMD. Consequently, a preventive strategy can be initiated at an early stage of the disorder. CONCLUSION: The apoE gene polymorphism showed a significant association with the risk of AMD. The lower frequency of the epsilon4 allele in AMD patients suggests that the apoE gene could play a protective role in the pathogenesis of the disease. In contrast, the epsilon2 allele was found associated with a slightly increased risk of AMD, although we did not find a statistically significant effect.
PURPOSE: To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene. METHODS: PRPF8 gene analysis and complete ophthalmologic examination in an ADRP family. RESULTS: Clinical examination revealed the typical RP phenotype in all family members. Electroretinography showed preserved ERG photopic responses. Genetic analysis showed that the P2301S missense mutation segregated with the disease in all subjects. CONCLUSIONS: Unlike previously reported families, the PRPF8 gene mutation in our family is associated with a mild phenotype in which cone function is partially preserved.
Sinding-Larsen-Johansson disease affects the patellar tendon in its attachment to the patella. It is quite frequent in adolescents, especially in young males practising sporting activities. The diagnosis is mainly clinical. The presence of tenderness and localized swelling of the lower pole of the patella are characteristic of the disorder. We analyzed three patients with Sinding-Larsen-Johansson disease. Ultrasound gave complete informations about the involvement of bone, cartilage and patellar tendon. In these patients the lower pole of the patella appeared irregular, fragmented, with swelling of the cartilage and thickening at the insertion of the patellar tendon. Ultrasonography is also suitable for periodical follow-up the course of the disease.