Ruxolitinib in Aicardi-Goutières syndrome

Metabolic Brain Disease - Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It...     

Combination of renin-angiotensin system polymorphisms is associated with altered renal sodium handling and hypertension

Genes of the renin-angiotensin-aldosterone system (RAAS) are natural candidates for sodium homeostasis and blood pressure regulation. To investigate the effect of a combination of polymorphisms of RAAS genes on renal sodium handling and blood pressure, 918 participants to the Olivetti Heart Study were genotyped for the following polymorphisms: I/D of angiotensin converting enzyme (ACE), M235T of angiotensinogen (AGT), A1166C of angiotensin II type-1 receptor (AT1R), and C-344T of aldosterone synthase (CYP11B2). The segmental renal sodium handling was evaluated by the fractional excretions of exogenous lithium (FE-Li), uric acid (FE-UA), and sodium (FE-Na). Twenty-eight carriers of triple homozygosity for M (AGT), A (AT1R), and C (CYP11B2) in the presence of the D allele of ACE (DD/ID) showed lower FE-Li (20.0%+/-5.9% versus 25.0%+/-7.5%; P=0.004; mean+/-sD), FE-UA (6.3%+/-2.0% versus 8.2%+/-2.7%; P=0.001), and FE-Na (0.96%+/-0.41% versus 1.22%+/-0.61%; P=0.004) as compared with all other allelic combinations (n=890), independently from age and body mass, suggesting an enhanced rate of proximal tubular sodium reabsorption. The carriers of the MM, AA, CC, DD/ID combination showed a substantially higher probability of being hypertensive (OR: 3.4 [(99% CI: 1.1 to 10.1]), independently of age and body mass. This relatively rare combination of allelic variants of candidate genes of the RAAS is associated with a significant alteration in proximal renal sodium handling and with higher risk of hypertension, suggesting that a combination of polymorphic variants at different candidate loci may affect phenotypic expression even in the absence of detectable effects of each variant at any single locus.     

Development of a low-cost DICOM-server for teaching and research purposes

PURPOSE: This paper describes our experience in developing a DICOM (Digital Imaging and Communications in Medicine) server based on widely available personal computers enabling to use X-ray digital images for teaching and scientific purposes. MATERIALS AND METHODS: The system is based on a DICOM server running on a widely used personal computer. The selected DICOM images are collected directly from the radiological equipment or from a dedicated 3D image processing workstation through a LAN connection and converted into one of the standard formats (JPEG or GIF) to allow their direct importing into multimedia presentations for teaching or scientific purposes. RESULTS: This system allows fast and easy collection of radiological images in DICOM format directly from the diagnostic equipment or from the graphical workstation. These images may be used for scientific and teaching presentations without loss of image quality and colour characteristics in 3D images as there is no off-line acquisition process. CONCLUSIONS: The extensive possibilities of implement the system described on widely used PCs makes the system extremely versatile and facilitates the preparation of teaching material and scientific publications.     

Television habits in relation to overweight, diet and taste preferences in European children: the IDEFICS study

Early television exposure has been associated with various health outcomes including childhood obesity. This paper describes associations between patterns of television viewing, on one hand, and diet, taste preference and weight status, on the other, in European preschoolers and schoolchildren. The IDEFICS baseline survey was conducted at examination centers in Italy, Estonia, Cyprus, Belgium, Sweden, Germany, Hungary, and Spain. 15,144 children aged 2–9 completed the basic protocol, including anthropometry and parental questionnaires on their diets and television habits. A subsample of 1,696 schoolchildren underwent further sensory testing for fat and sweet taste preferences. Three dichotomous indicators described: children’s habitual television exposure time; television viewing during meals; and having televisions in their bedrooms. Based on these variables we investigated television habits in relation to overweight (IOTF) and usual consumption of foods high in fat and sugar. A possible role of taste preference in the latter association was tested in the sensory subgroup. All television indicators were significantly associated with increased risk of overweight, with odds ratios ranging from 1.21 to 1.30, in fully adjusted models. Children’s propensities to consume high-fat and high-sugar foods were positively and, in most analyses, monotonically associated with high-risk television behaviors. The associations between television and diet propensities were not explained by preference for added fat or sugar in test foods. To summarize, in addition to being more overweight, children with high-risk television behaviors may, independent of objectively measured taste preferences for fat and sugar, passively overconsume higher-fat and particularly higher-sugar diets.     

Calcium-channel blockers and sodium intake: A controlled study in patients with essential hypertension

Summary Thirteen patients with mild to moderate essential hypertension and whose average supine blood pressure with no treatment was 165/104 mmHg were studied as inpatients for 3 consecutive one-week periods on different sodium intakes. On the last day of each dietary period, they received a single, 20-mg nitrendipine tablet and blood pressure was monitored every 10 minutes for 2 hours after drug administration.Nitrendipine significantly lowered blood pressure independently of the level of sodium intake, and the maximum blood-pressure lowering effect was achieved approximately 1 hour after the dose. The blood-pressure lowering effect of nitrendipine was greater on high sodium intake as compared to low sodium intake (p<0.02), and it was also greater with higher initial blood pressures. However, the sodium-related effect on blood pressure was, at least in part, independent of the pretreatment blood pressure.These results suggest that calcium antagonists, such as nitrendipine, are effective in reducing blood pressure in patients with essential hypertension and could be drugs of choice in those who are unable to restrict their salt intake.     

Relationship Between Markers of Body Fat and Calcaneal Bone Stiffness Differs Between Preschool and Primary School Children: Results from the IDEFICS Baseline Survey

The aim of this study was to investigate the relationship between markers of body fat and bone status assessed as calcaneal bone stiffness in a large sample of European healthy pre- and primary school children. Participants were 7,447 children from the IDEFICS study (spread over eight different European countries), age 6.1?±?1.8?years (range 2.1-9.9), 50.5?% boys. Anthropometric measurements (weight, height, bioelectrical impedance, waist and hip circumference, and tricipital and subscapular skinfold thickness) as well as quantitative ultrasonographic measurements to determine calcaneal stiffness index (SI) were performed. Partial correlation analysis, linear regression analysis, and ANCOVA were stratified by sex and age group: preschool boys (n?=?1,699) and girls (n?=?1,599) and primary school boys (n?=?2,062) and girls (n?=?2,087). In the overall study population, the average calcaneal SI was equal to 80.2?±?14.0, ranging 42.4-153. The results showed that preschool children with higher body fat had lower calcaneal SI (significant correlation coefficients between -0.05 and -0.20), while primary school children with higher body fat had higher calcaneal SI (significant correlation coefficients between 0.05 and 0.13). After adjusting for fat-free mass, both preschool and primary school children showed an inverse relationship between body fat and calcaneal stiffness. To conclude, body fat is negatively associated with calcaneal bone stiffness in children after adjustment for fat-free mass. Fat-free mass may confound the association in primary school children but not in preschool children. Muscle mass may therefore be an important determinant of bone stiffness.