Genetic susceptibility of increased intestinal permeability is associated with progressive liver disease and diabetes in patients with non-alcoholic fatty liver disease

Abstract Background and aim Increased intestinal permeability plays a key role in the pathogenesis of fat deposition in the liver. The aim of our study was to assess whether a single nucleotide polymorphism of protein tyrosine phosphatase non-receptor type 2 (PTPN2) (rs2542151 T→G), involved in intestinal permeability, may be associated with non-alcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). Methods and results We recruited a prospective cohort of NAFLD subjects and matched controls. Clinical data, PTPN2 genotype and laboratory data were collected for each patient. Results were stratified according to liver histology and diabetes. We enrolled 566 cases and 377 co…

Distance learning training in genetics and genomics testing for Italian health professionals: results of a pre and post-test evaluation

BackgroundProgressive advances in technologies for DNA sequencing and decreasing costs are allowing an easier diffusion of genetic and genomic tests. Physicians’ knowledge and confidence on the topic is often low and not suitable for manage this challenge. Tailored educational programs are required to reach a more and more appropriate use of genetic technologies.MethodsA distance learning course has been created by experts from different Italian medical associations with the support of the Italian Ministry of Health. The course was directed to professional figures involved in prescription and interpretation of genetic tests. A pretest-post-test study design was used to assess knowledge impr…

Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers

Abstract Background A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. Methods A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014. The survey was closed in November 2015. Results CMOs response rate was 65.5% (19/29). Twelve (63.2%) reported that their countries had a policy for genomics in healthcare in place, and 15 (78.9%) rep…

Steatohepatitis and type 2 diabetes mellitus are influenced by genetic susceptibility to increased intestinal permeability in patients with non-alcoholic fatty liver disease

Policy determinants of physical activity across the life course: a ‘DEDIPAC’ umbrella systematic literature review

Background\ud Despite the large number of studies and reviews available, the evidence regarding the policy determinants of physical activity (PA) is inconclusive. This umbrella systematic literature review (SLR) summarizes the current evidence on the policy determinants of PA across the life course, by pooling the results of the available SLRs and meta-analyses (MAs).\ud \ud Methods\ud A systematic online search was conducted on MEDLINE, ISI Web of Science, Scopus and SPORTDiscus databases up to April 2016. SLRs and MAs of observational studies investigating the association between policy determinants of PA and having PA as outcome were considered eligible. The extracted data were assessed …

Public Health Genomics education in post-graduate schools of hygiene and preventive medicine: a cross-sectional survey.

Background The relevance of Public Health Genomics (PHG) education among public health specialists has been recently acknowledged by the Association of Schools of Public Health in the European Region. The aim of this cross-sectional survey was to assess the prevalence of post-graduate public health schools for medical doctors which offer PHG training in Italy. Methods The directors of the 33 Italian public health schools were interviewed for the presence of a PHG course in place. We stratified by geographical area (North, Centre and South) of the schools. We performed comparisons of categorical data using the chi-squared test. Results The response rate was 73% (24/33 schools). Among respond…

Cost effectiveness analysis of childhood obesity primary prevention programmes: a systematic review

Background. Childhood obesity is associated with enormous health consequences and costs to society. This study aims to systematically review the studies on Cost Effectiveness Analysis (CEA) of primary prevention programmes of childhood obesity, discussing the gaps and providing recommendations for future research. Methods. All the studies on the cost effectiveness evaluation of primary prevention of obesity among children were included. Studies were retrieved from MEDLINE and Google Scholar, up to 31st March 2012, with only English language papers being eligible. The quality of the retrieved studies was evaluated by using the Drummond scale. Re…

Glucokinase Regulatory Protein Gene Polymorphism Affects Liver Fibrosis in Non-Alcoholic Fatty Liver Disease

BACKGROUND AND AIMS: Variant in glucokinase regulatory protein (GCKR), associated with lipid and glucose traits, has been suggested to affect fatty liver infiltration. We aimed to assess whether GCKR rs780094 C-->T SNP influences the expression of steatosis, lobular inflammation and fibrosis in NAFLD patients, after correction for PNPLA3 genotype. METHODS: In 366 consecutive NAFLD patients (197 from Sicily, and 169 from center/northern Italy), we assessed anthropometric, biochemical and metabolic features; liver biopsy was scored according to Kleiner. PNPLA3 rs738409 C>G and GCKR rs780094 C>T single nucleotide polymorphisms were also assessed. RESULTS: At multivariate logistic regression an…