Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (<= 8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families.

Evaluation of the prevalence and nutritional and social determinants of overweight in a population of schoolchildren: a cross-sectional analysis of 5,037 children

Objective: To evaluate the prevalence and nutritional and social determinants of overweight in a population of schoolchildren in Southern Brazil. Methods: Cross-sectional descriptive study of 5,037 children of both genders, between 6 and 10.9 years of age, from public and private schools of Maringa, Parana, Brazil. Evaluation of factors associated with excess weight (overweight and obesity) included gender, age, school type, socioeconomic level, education of the head of the family, eating habits, and means of commuting to school. After univariate analysis (Fisher's exact test), we adjusted a logistic regression model and used Wald's test for decision-making (p < 0.05). Results: The mean age was 8.7 +/- 1.3 years, with 52.8% females; 79.1% of the students attended public school and 54.6% had families of socioeconomic class A or B. Regarding nutritional status, 24% of children were overweight (7% obesity, 17% overweight). Being male, attending a private school, and having a head of the family with over four years of education were significantly associated with excess weight. In relation to food, inadequate intake of,carbohydrates was associated with a 48% greater chance of overweight/obesity (p < 0.001; OR: 1.48; 95% CI: 1.25-1.76), Conclusion: The prevalence of overweight found in this study is approximate to that reported in national studies. Its association with gender and inadequate food intake indicates that these factors should be considered in initiatives aimed at preventive measures in childhood.

Analysis of the association of an MMP1 promoter polymorphism and transcript levels with chronic periodontitis and end-stage renal disease in a Brazilian population

Chronic periodontitis (CP) and end-stage renal disease (ESRD) are complex inflammatory conditions. Higher levels of MMP-1 were found in fluids and gingival tissues from CP patients and in the blood and tissues from ESRD patients. MMP1-1607 (1G/2G) is a functional polymorphism, as it alters MMP-1 expression. Objective: The aim of this study was to investigate the association of the MMP1-1607 (1G/2G) polymorphism with CP and ESRD and evaluate differences in transcript levels between the groups. Design: A total of 254 individuals were divided into four groups: Group 1, without CP and without chronic kidney disease (CKD) (n = 67); Group 2, with CP and without CKD (n = 60); Group 3, without CP and with CKD stages (ESRD) (n = 52), and Group 4, with CP and with ESRD (n = 75). The MMP1-1607 polymorphism was analysed by PCR-RFLP. MMP1 gene transcripts from gingival tissues were analysed by real-time PCR. Results: No association was found between the MMP1-1607 polymorphism and CP or ESRD. Increased levels of MMP1 transcripts were observed in CP patients with or without ESRD. No differences were observed in the transcript levels according to the genotypes. Conclusion: It was concluded that the MMP1-1607 polymorphism was not associated with either CP or ESRD. However, higher levels of MMP1 gene transcripts were found at gingival sites of CP in patients both with and without ESRD. (C) 2012 Elsevier Ltd. All rights reserved.

Perceived neighborhood problems: multilevel analysis to evaluate psychometric properties in a Southern adult Brazilian population

Abstract Background Physical attributes of the places in which people live, as well as their perceptions of them, may be important health determinants. The perception of place in which people dwell may impact on individual health and may be a more telling indicator for individual health than objective neighborhood characteristics. This paper aims to evaluate psychometric and ecometric properties of a scale on the perceptions of neighborhood problems in adults from Florianopolis, Southern Brazil. Methods Individual, census tract level (per capita monthly familiar income) and neighborhood problems perception (physical and social disorders) variables were investigated. Multilevel models (items nested within persons, persons nested within neighborhoods) were run to assess ecometric properties of variables assessing neighborhood problems. Results The response rate was 85.3%, (1,720 adults). Participants were distributed in 63 census tracts. Two scales were identified using 16 items: Physical Problems and Social Disorder. The ecometric properties of the scales satisfactory: 0.24 to 0.28 for the intra-class correlation and 0.94 to 0.96 for reliability. Higher values on the scales of problems in the physical and social domains were associated with younger age, more length of time residing in the same neighborhood and lower census tract income level. Conclusions The findings support the usefulness of these scales to measure physical and social disorder problems in neighborhoods.

Agrofood chain analysis: production, commercialisation and consumption of healthy food for population at risk of poverty in Italy

Italy registers a fast increase of low income population. Academics and policy makers consider income inequalities as a key determinant for low or inadequate healthy food consumption. Thus the objective is to understand how to overcome the agrofood chain barriers towards healthy food production, commercialisation and consumption for population at risk of poverty (ROP) in Italy. The study adopts a market oriented food chain approach, focusing the research ambit on ROP consumers, processing industries and retailers. The empirical investigation adopts a qualitative methodology with an explorative approach. The actors are investigated through 4 focus groups for consumers and carrying out 27 face to face semi-structured interviews for industries and retailers’ representatives. The results achieved provide the perceptions of each actor integrated into an overall chain approach. The analysis shows that all agrofood actors lack of an adequate level of knowledge towards healthy food definition. Food industries and retailers also show poor awareness about ROP consumers’ segment. In addition they perceive that the high costs for producing healthy food conflict with the low economic performances expected from ROP consumers’ segment. These aspects induce a scarce interest in investing on commercialisation strategies for healthy food for ROP consumers. Further ROP consumers show other notable barriers to adopt healthy diets caused, among others, by a personal strong negative attitude and lack of motivation. The personal barriers are also negatively influenced by several external socio-economic factors. The solutions to overcome the barriers shall rely on the improvement of the agrofood chain internal relations to identify successful strategies for increasing interest on low cost healthy food. In particular the focus should be on improved collaboration on innovation adoption and marketing strategies, considering ROP consumers’ preferences and needs. An external political intervention is instead necessary to fill the knowledge and regulations’ gaps on healthy food issues.

Conservation genetics of European wildcat (Felis silvestris silvestris): a wide and integrating analysis protocol for admixture inferences and population structure

Introgression of domestic cat genes into European wildcat (Felis silvestris silvestris) populations and reduction of wildcats’ range in Europe, leaded by habitat loss and fragmentation, are considered two of the main conservation problems for this endangered feline. This thesis addressed the questions related with the artificial hybridization and populations’ fragmentation, using a conservation genetics perspective. We combined the use of highly polymorphic loci, Bayesian statistical inferences and landscape analyses tools to investigate the origin of the geographic-genetic substructure of European wildcats (Felis silvestris silvestris) in Italy and Europe. The genetic variability of microsatellites evidenced that European wildcat populations currently distributed in Italy differentiated in, and expanded from two distinct glacial refuges during the Last Glacial Maximum. The genetic and geographic substructure detected between the eastern and western sides of the Apennine ridge, resulted by adaptation to specific ecological conditions of the Mediterranean habitats. European wildcat populations in Europe are strongly structured into 5 geographic-genetic macro clusters corresponding to: the Italian peninsular & Sicily; Balkans & north-eastern Italy; Germany eastern; central Europe; and Iberian Peninsula. Central European population might have differentiated in the extra-Mediterranean Würm ice age refuge areas (Northern Alps, Carpathians, and the Bulgarian mountain systems), while the divergence among and within the southern European populations might have resulted by the Pleistocene bio geographical framework of Europe, with three southern refugia localized in the Balkans, Italian Peninsula and Iberia Peninsula. We further combined the use of most informative autosomal SNPs with uniparental markers (mtDNA and Y-linked) for accurately detecting parental genotypes and levels of introgressive hybridization between European wild and domestic cats. A total of 11 hybrids were identified. The presence of domestic mitochondrial haplotypes shared with some wild individuals led us to hypnotize the possibility that ancient introgressive events might have occurred and that further investigation should be recommended.

Improving Outcomes After Laparoscopic Appendectomy: A Population-based, 12-year Trend Analysis of 7446 Patients

Laparoscopic appendectomy for acute appendicitis has become increasingly used over the past decade. The objective of this trend analysis is to assess whether clinical outcomes after laparoscopic appendectomy have improved over the past 12 years.

Population-based trend analysis of laparoscopic Nissen and Toupet fundoplications for gastroesophageal reflux disease

The Nissen and Toupet fundoplications are the most commonly used techniques for surgical treatment of gastroesophageal reflux disease. To date, no population-based trend analysis has been reported examining the choice of procedure and short-term outcomes. This study was designed to analyze trends in the use of Nissen versus Toupet fundoplications, and corresponding short-term outcomes during a 10-year period between 1995 and 2004.

Population-based trend analysis of 2813 patients undergoing laparoscopic sigmoid resection

The use of laparoscopic sigmoid resection for diverticular disease has become increasingly popular. The objective of this trend analysis was to assess whether clinical outcomes following laparoscopic sigmoid resection for diverticular disease have improved over the past 10 years.

Segregation analysis of overweight body condition in an experimental cat population

The goal of this study was to analyze the mode of inheritance of an overweight body condition in an experimental cat population. The cat population consisted of 95 cats of which 81 cats could be clearly classified into lean or overweight using the body condition scoring system according to Laflamme. The lean or overweight classification was then used for segregation analyses. Complex segregation analyses were employed to test for the significance of one environmental and 4 genetic models (general, mixed inheritance, major gene, and polygene). The general genetic model fit the data significantly better than the environmental model (P

Concomitant Vascular Reconstruction During Pancreatectomy for Malignant Disease: A Propensity Score-Adjusted, Population-Based Trend Analysis Involving 10 206 Patients

OBJECTIVE To assess trends in the frequency of concomitant vascular reconstructions (VRs) from 2000 through 2009 among patients who underwent pancreatectomy, as well as to compare the short-term outcomes between patients who underwent pancreatic resection with and without VR. DESIGN Single-center series have been conducted to evaluate the short-term and long-term outcomes of VR during pancreatic resection. However, its effectiveness from a population-based perspective is still unknown. Unadjusted, multivariable, and propensity score-adjusted generalized linear models were performed. SETTING Nationwide Inpatient Sample from 2000 through 2009. PATIENTS A total of 10 206 patients were involved. MAIN OUTCOME MEASURES Incidence of VR during pancreatic resection, perioperative in-hospital complications, and length of hospital stay. RESULTS Overall, 10 206 patients were included in this analysis. Of these, 412 patients (4.0%) underwent VR, with the rate increasing from 0.7% in 2000 to 6.0% in 2009 (P < .001). Patients who underwent pancreatic resection with VR were at a higher risk for intraoperative (propensity score-adjusted odds ratio, 1.94; P = .001) and postoperative (propensity score-adjusted odds ratio, 1.36; P = .008) complications, while the mortality and median length of hospital stay were similar to those of patients without VR. Among the 25% of hospitals with the highest surgical volume, patients who underwent pancreatic surgery with VR had significantly higher rates of postoperative complications and mortality than patients without VR. CONCLUSIONS The frequency of VR during pancreatic surgery is increasing in the United States. In contrast with most single-center analyses, this population-based study demonstrated that patients who underwent VR during pancreatic surgery had higher rates of adverse postoperative outcomes than their counterparts who underwent pancreatic resection only. Prospective studies incorporating long-term outcomes are warranted to further define which patients benefit from VR.