Search results for "WB"
showing 10 items of 1688 documents
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
2013
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…
Obesity after childhood craniopharyngioma--German multicenter study on pre-operative risk factors and quality of life.
2001
Craniopharyngiomas are tumorous embryogenic malformations. As the survival rate after craniopharyngioma is high (92 %), prognosis and quality of life (QoL) in survivors mainly depend on adverse late effects such as obesity.We analyzed 214 children and adolescents with craniopharyngioma. The records of 185 patients (86 %) were available for retrospective analysis of weight profiles and risk factors for obesity. Quality of life (QoL) was measured in 145 patients by the Fertigkeitenskala Münster/Heidelberg score (FMH) and in 77 patients by PEDQOL questionnaire.Eighty-two of 185 patients (44 %) developed severe obesity (body mass index [BMI]3 SD). Obese patients were compared with 79 patients (…
Pharmacoeconomic assessment of implementing a universal PCV-13 vaccination programme in the Valencian public health system (Spain).
2011
Background: Heptavalent pneumococcal conjugate vaccine (PCV-7) was licensed to provide immunity against pneumococcal disease caused by seven serotypes of S. pneumoniae. Thirteen-valent pneumococcal conjugate vaccine (PCV-13) includes 6 additional serotypes for preventing invasive pneumococcal disease. Objective: The objective of this study was to estimate the potential health benefits, costs, and cost-effectiveness of vaccination with PCV-13 in the Community of Valencia and to generate valuable information for policy makers at regional and country levels. Methods: A decision tree was designed to determine the health and economic outcomes in hypothetical cohorts of vaccinated and unvaccinate…
Parental Exposure to Polycyclic Aromatic Hydrocarbons and the Risk of Childhood Brain Tumors: The SEARCH International Childhood Brain Tumor Study
2004
Experimental evidence suggests that parental exposure to polycyclic aromatic hydrocarbons (PAH), which occurs primarily through tobacco smoke, occupational exposure, and air pollution, could increase the risk of cancer during childhood. Population-based case-control studies carried out in seven countries as part of the SEARCH Program compared data for 1,218 cases of childhood brain tumors and 2,223 controls (1976-1994). Parental occupational exposure to PAH during the 5-year period before birth was estimated with a job exposure matrix. Risk estimates were adjusted for child's age, sex, and study center. Paternal preconceptional occupational exposure to PAH was associated with increased risk…
Association of childhood cancer with factors related to pregnancy and birth
1999
It has been hypothesized that risk factors of childhood cancers may already operate during the prenatal and neonatal period. Results of previous epidemiological studies have been inconsistent.During 1992-1997 a large case-control study on childhood cancers and a variety of potential risk factors was conducted in Germany. Cases were ascertained by the German Childhood Cancer Registry. Each case was matched to a population-based control of the same age and gender, sampled from the district where the case lived at the date of diagnosis. For the analyses, 2358 cases and 2588 controls were available.Risk of childhood acute leukaemia increased with maternal ageor =20 years at time of delivery (od…
The impact of ten years of infant universal Varicella vaccination in Sicily, Italy (2003-2012).
2015
Introduction Universal varicella vaccination in Sicily was introduced in infant population since 2003, with a rapidly increasing coverage. Aim of the present study was to analyze changes in the epidemiology of varicella since the introduction of universal vaccination. Methods The study was performed by analyzing Sicilian administrative/clinical data on varicella case notifications and hospitalizations from 2003 to 2012 (ICD-9-CM discharge diagnosis codes 052 and 052.×). MMR+V and V coverage were also calculated for each birth cohort. Moreover, blood samples drawn in 2013/2014 from general population stratified by age were tested for varicella antibodies. Results From 2003 to 2012, 15 433 va…
Factors associated with exclusive breast-feeding and breast-feeding in Norway
2010
Objective: To identify factors associated with exclusive breast-feeding and breastfeeding during the first year of life among Norwegian infants. Design: Data on breast-feeding practices were collected by a semi-quantitative FFQ. Setting: In 2006–2007 about 3000 infants were invited to participate in a populationbased prospective cohort study in Norway. Subjects: A total of 1490 mothers/infants participated at both 6 and 12 months of age. Results: Exclusive breast-feeding at 4 months was associated with parental education, parity and geographical region, while exclusive breast-feeding at 5?5 months was associated only with maternal age. At both ages, a negative association with exclusive bre…
Associations of Birth Weight and Postnatal Weight Gain With Cardiometabolic Risk Parameters at 5 Years of Age
2014
The present prospective study assessed the impact of birth weight (BW) and postnatal weight gain on blood pressure and metabolic profile during the first 5 years of life. One hundred thirty-nine newborns (63 women) born at term after uncomplicated pregnancies and in the absence of perinatal illness were included. Subjects were divided according to size at birth in small, appropriate, and large for gestational age. After the initial evaluation on the second day of life, infants were followed up at 6 months and 2 and 5 years. Anthropometric parameters and blood pressure were measured at each visit and metabolic assessment was performed at 5 years of age. Among the BW groups, mothers did not d…
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study
2018
To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data …
Oxidant and antioxidant status in mothers and their newborns according to birthweight
2008
The aim of this study is to determine the oxidant and antioxidant status in Algerian mothers and their newborns according to birth weight.Subjects for the study were consecutively recruited from Tlemcen hospital. 139 pregnant women and their newborns were included. The plasma total antioxidant activity (ORAC), vitamins A, C, E, hydroperoxides, carbonyl proteins, and erythrocyte antioxidant enzyme activities (catalase, glutathione peroxidase, glutathione reductase and superoxide dismutase) were measured on mothers and their newborns. Lipid and lipoprotein parameters were also determined. The results were assessed in accordance with small for gestational age (SGA), appropriate (AGA) and large…