Genome-wide association study of human body fatness in the population of the island of Vis

Pretilost je jedan od osnovnih faktora rizika za kardiovaskularna oboljenja, dijabetes, i zloćudne tumore. Iako su u pozadini porasta prevalencije pretilosti okolišni čimbenici, postoje značajne interindividualne varijacije u odgovoru na moderan stil života koje su dijelom posljedica razlika u genetičkoj predispoziciji pojedinca. Kako bi se istražili genetički i okolišni čimbenici koji utječu na pojavu pretilosti, provedena je cjelogenomska asocijacijska analiza udjela masti u tijelu, indeksa tjelesne mase i opsega struka u populaciji otočnog izolata Visa. Polimorfizam rs4954723 lociran blizu gena NXPH2 statistički je značajno povezan s indeksom tjelesne mase i opsegom struka. Niti jedan polimorfizam statistički ili nominalno značajan u ovom istraživanju nije potvrđen u replikacijskoj studiji. Među okolišnim čimbenicima kao značajni za udio masti u tijelu pokazali su se spol, način prehrane i pušački status, za indeks tjelesne mase način prehrane i pušački status, a za opseg struka spol, način prehrane, pušenje, tjelesna aktivnost i socioekomomski status.Obesity is one of the main risk factors for cardiovascular diseases, diabetes and cancer. Although the rise in the prevalence of obesity was mainly driven by the environmental factors, there are significant interindividual differences in the response to modern lifestyle, partly due to different genetic predisposition. In order to investigate genetic and environmental factors contributing to the incidence of obesity, genome-wide association analysis of body fatness, body mass index and waist circumference was conducted in the isolated population of Vis. Polymorphism rs4954723 located near NXPH2 gene was statistically significantly associated with body mass index and waist circumference. None of the statistically or nominally associated polymorphisms were confirmed in the replication study. Environmental factors which were significant predictors of body fatness were sex, diet and smoking status, for body mass index only diet and smoking status, while for waist circumference diet, smoking status, physical activity and socioeconomic status were significant

Are the Physically Active Adolescents Belonging to the »At Risk of Overweight« BMI Category Really Fat?

The adolescence is recognized as one of the critical periods for the development of obesity. Children and adolescents who practice sports regularly have higher muscle mass and lower percentage of body fat than their peers who are physically less active. Since body mass index (BMI) is a widely used indicator of overweight/obesity in spite of the fact that it directly measures excess in weight but not in fat, it often misclassifies athletic populations, both children and adults. The specific aim of this study was to evaluate whether BMI adequately assesses fatness in adolescents, especially physically active ones. The analysis was performed on anthropometric data from two surveys (1997 and 2009/2010) of Zagreb secondary school adolescents, 1315 girls and 1034 boys, aged 15–19 years. The group defined as »physically active« consisted of adolescents who practice organized sports (36.2% girls, 44.6% boys), while the »physically inactive« group was made of their peers who practice sport only as a part of physical education in schools. The standardized values, calculated within each sex by survey, were used for comparison of adolescents with different levels of physical activity. Physically active adolescents of both sexes had lower sum of skinfolds mean Z-values (pgirls<0.05, pboys<0.001); additionally, boys had higher Z-values for body weight (p<0.05) and triceps/subscapular ratio (indicating peripheral distribution of body fat) (p<0.05) than their less active peers. In order to evaluate whether BMI was adequate indicator for body composition during adolescence, we estimated the concordance of above-median category defined by BMI and the other body fat indicators. The largest discrepancy was found for sum of skinfolds in both sexes and was more pronounced in physically active adolescents. This finding was further confirmed in more extreme BMI category (85th – 95th percentile) which indicated that adolescents categorized as »at risk of overweight« were predominantly characterized by larger lean body mass and not by increased fatness

Anthropometric indices of nutritional status in Croatian oldest old: new equations to predict height and weight

Anthropometry is an essential tool in the geriatric nutritional assessment. Measuring height and weight can be quite problematic in the old age so they can be estimated using theWHO equations. The purpose of this study was to: (a) show anthropometric indices of nutritional status of the ambulatory institutionalized oldest old in Zagreb, Croatia; (b) examine the adequacy of WHO equations for predicting height and weight of oldest old persons; (c) develop population-specific equations for estimating height and weight. The sample of this cross-sectional study comprised 314 examinees (F/M=234/80, 85-101 years). The classic anthropometric parameters (height, weight, extremities\u27 circumferences, knee height and skinfolds) were measured. The adequacy of WHO equations for predicting height and weight in Croatian oldest old was assessed using the paired t-test. Multiple linear regression analysis was performed to derive population-specific equations for predicting height and weight. The sexual dimorphismwas found in several anthropometric indices;men were taller, had larger weight and knee height, while women had larger triceps skinfold thickness. In women, most indices declined with age and in men the negative relation of knee height with age indicated a secular trend. The WHO equations for elderly acceptably predicted nothing but height in oldest old women. The presently developed equations, using the sameWHO\u27s predictor variables, proved to be more adequate for the studied population. The equations developed for estimating height and weight of non-ambulatory oldest old Croatians proved to be more appropriate than WHO equations and are therefore proposed for use in the everyday practice

E2 allele of the Apolipoprotein E gene polymorphism is predictive for obesity status in Roma minority population of Croatia

<p>Abstract</p> <p>Background and Aims</p> <p>The Roma (Gypsies) are a transnational minority, founder population characterized by unique genetic background modeled by culturally determined endogamy. The present study explores whether the widely found cardiovascular diseases (CVD) risk effects of ACE I/D, APOE (ε2, ε3, ε4), eNOS-VNTR and LEP G2548A polymorphisms can be replicated in this specific population.</p> <p>Methods and Results</p> <p>The community-based study was carried on 208 adult Bayash Roma living in rural settlements of eastern and northern Croatia. Risk effect of four CVD candidate polymorphisms are related to the most prominent classical CVD risk phenotypes: obesity indicators (body mass index and waist circumference), hypertension and hyperlipidemia (triglycerides, HDL and LDL cholesterol). For all of them the standard risk cut-offs were applied. The extent to which the phenotypic status is related to genotype was assessed by logistic regression analysis. The strongest associations were found for ε2 allele of the APOE as a predictor of waist circumference (OR 3.301; 95%CI 1.254-8.688; p = 0.016) as well as for BMI (OR 3.547; 95%CI 1.471-8.557; p = 0.005). It is notable that ε3 allele of APOE gene turned out to be a protective genetic factor determining low lipid levels.</p> <p>Conclusion</p> <p>The strength of the relation and the similarity of the results obtained for both tested indicators of obesity provide firm evidence that APOE plays an important role in obesity development in the Roma population.</p

Gender-Specific Growth Patterns of Transversal Body Dimensions in Croatian Children and Youth (2 to 18 Years of Age)

In a cross-sectional study of growth, 5,260 healthy children of both sexes from Zagreb (Croatia) aged 2 to 18 years were measured. Six transversal body dimensions were studied: biacromial, transverse chest, antero-posterior chest, biiliocristal, bicondylar humerus and bicondylar femur diamters. A significant increase in body diameters has been observed until the age of 14 to 15 in girls and until the age of 16 in boys, showing that girls have a 1 to 2 years shorter period of growth. Compared to boys of the same age, they achieved larger amounts of final transversal bone size throughout the whole growth period. The most pronounced example was the knee diameter that in girls attained 95% of adult size as early as the age of 10. In both genders, the adult size is achieved earlier in widths of the extremities than in those of the trunk. The studied transversal body segments showed different growth dynamics, which is gender-specific. While sexual dimorphism in pelvic and shoulder diameters emerged with pubertal spurt, gender differences in chest and extremities’ diameters started early in life. In all ages, boys had larger chest, elbow and knee diameters. In pubertal age boys gained a significantly larger biacromial diameter (from the age of 13 onwards), while girls exceeded them in biiliocristal diameter (from 10 to 14 years). The findings of gender differences were compared to those reported for other European populations and their growth patters were discussed comparing viewpoints

CROATIAN GUIDELINES FOR THE PHARMACOTHERAPY OF TYPE 2 DIABETES

Uvod: Hrvatsko društvo za dijabetes i bolesti metabolizma Hrvatskoga liječničkog zbora izradilo je 2011. godine prve nacionalne smjernice o prehrani, edukaciji i samokontroli te farmakološkom liječenju šećerne bolesti tipa 2. Sukladno povećanom broju dostupnih lijekova te novim spoznajama o učinkovitosti i sigurnosti primjene već uključenih lijekova, pokazala se potreba za obnovom postojećih smjernica za farmakološko liječenje šećerne bolesti tipa 2 u Republici ­Hrvatskoj. Sudionici: Kao koautori Smjernica navedeni su svi članovi Hrvatskog društva za dijabetes i bolesti metabolizma Hrvatskoga liječničkog zbora, kao i ostalih uključenih stručnih društava, koji su svojim komentarima i prijedlozima pridonijeli izradi Smjernica. Dokazi: Ove su Smjernice utemeljene na dokazima, prema sustavu GRADE (engl. Grading of Recommendations, Assessment, Development and Evaluation) koji uz razinu dokaza opisuje i snagu preporuke. Zaključci: Individualan pristup temeljen na fiziološkim principima regulacije glikemije nuždan je u liječenju osoba sa šećernom bolesti. Ciljeve liječenja i odabir medikamentne terapije treba prilagoditi oboljeloj osobi, uzimajući u obzir životnu dob, trajanje bolesti, očekivano trajanje života, rizik od hipoglikemije, komorbiditete, razvijene vaskularne i ostale komplikacije, kao i ostale čimbenike. Zbog svega navedenoga od nacionalnog je interesa imati praktične, racionalne i provedive smjernice za farmakološko liječenje šećerne bolesti tipa 2.Introduction: The Croatian Association for Diabetes and Metabolic Disorders of the Croatian Medical Association has issued in 2011 the first national guidelines for the nutrition, education, self-control, and pharmacotherapy of ­diabetes type 2. According to the increased number of available medicines and new evidence related to the effectiveness and safety of medicines already involved in the therapy there was a need for update of the existing guidelines for the ­pharmacotherapy of type 2 diabetes in the Republic of Croatia. Participants: as co-authors of the Guidelines there are listed all members of the Croatian Association for Diabetes and Metabolic Diseases, as well as other representatives of professional societies within the Croatian Medical Association, who have contributed with comments and suggestions to the development of the Guidelines. Evidence: These guidelines are evidence-based, according to the GRADE system (eng. Grading of Recommendations, Assessment, Development and Evaluation), which describes the level of evidence and strength of recommendations. Conclusions: An individual patient approach based on physiological principles in blood glucose control is essential for diabetes’ patients management. Glycemic targets and selection of the pharmacological agents should be tailored to the patient, taking into account the age, duration of disease, life expectancy, risk of hypoglycemia, comorbidities, developed vascular and other complications as well as other factors. Because of all this, is of national interest to have a practical, rational and applicable guidelines for the pharmacotherapy of type 2 diabetes

Hrvatske smjernice za farmakološko liječenje šećerne bolesti tipa 2 [Croatian guidelines for the pharmacotherapy of type 2 diabetes]

Introduction: The Croatian Association for Diabetes and Metabolic Disorders of the Croatian Medical Association has issued in 2011 the first national guidelines for the nutrition, education, self-control, and pharmacotherapy of diabetes type 2. According to the increased number of available medicines and new evidence related to the effectiveness and safety of medicines already involved in the therapy there was a need for update of the existing guidelines for the pharmacotherapy of type 2 diabetes in the Republic of Croatia. Participants: as co-authors of the Guidelines there are listed all members of the Croatian Association for Diabetes and Metabolic Diseases, as well as other representatives of professional societies within the Croatian Medical Association, who have contributed with comments and suggestions to the development of the Guidelines. Evidence: These guidelines are evidence-based, according to the GRADE system (eng. Grading of Recommendations, Assessment, Development and Evaluation), which describes the level of evidence and strength of recommendations. Conclusions: An individual patient approach based on physiological principles in blood glucose control is essential for diabetes' patients management. Glycemic targets and selection of the pharmacological agents should be tailored to the patient, taking into account the age, duration of disease, life expectancy, risk of hypoglyce- mia, comorbidities, developed vascular and other complications as well as other factors. Because of all this, is of national interest to have a practical, rational and applicable guidelines for the pharmacotherapy of type 2 diabetes

Relevance of <i>CYP2D6</i> Gene Variants in Population Genetic Differentiation

A significant portion of the variability in complex features, such as drug response, is likely caused by human genetic diversity. One of the highly polymorphic pharmacogenes is CYP2D6, encoding an enzyme involved in the metabolism of about 25% of commonly prescribed drugs. In a directed search of the 1000 Genomes Phase III variation data, 86 single nucleotide polymorphisms (SNPs) in the CYP2D6 gene were extracted from the genotypes of 2504 individuals from 26 populations, and then used to reconstruct haplotypes. Analyses were performed using Haploview, Phase, and Arlequin softwares. Haplotype and nucleotide diversity were high in all populations, but highest in populations of African ancestry. Pairwise FST showed significant results for eleven SNPs, six of which were characteristic of African populations, while four SNPs were most common in East Asian populations. A principal component analysis of CYP2D6 haplotypes showed that African populations form one cluster, Asian populations form another cluster with East and South Asian populations separated, while European populations form the third cluster. Linkage disequilibrium showed that all African populations have three or more haplotype blocks within the CYP2D6 gene, while other world populations have one, except for Chinese Dai and Punjabi in Pakistan populations, which have two

Comparison of Injectable Biphasic Calcium Phosphate and a Bovine Xenograft in Socket Preservation: Qualitative and Quantitative Histologic Study in Humans

This study is the first histologic evaluation of an injectable biphasic calcium phosphate (IBCP) in humans six months after socket preservation according to the principles of guided bone regeneration. After tooth extraction, the alveolar ridge of 21 patients was augmented with IBCP (maxresorb® inject) in the test group, while 20 patients in the control group received a bovine xenograft (BX) (cerabone®). Six months after augmentation, a reentry procedure was performed to collect biopsies of regenerated bone for qualitative and quantitative histologic analysis. A total of 20 biopsies were taken for analysis. Qualitative histologic analysis showed complete integration of the biomaterial and no inflammatory tissue reaction, indicating the biocompatibility of the bone grafts and the surrounding tissue in both groups. Histomorphometric analysis showed comparable results in terms of newly formed bone (IBCP: 26.47 ± 14.71%, BX: 30.47 ± 16.39%) and residual biomaterial (IBCP: 13.1 ± 14.07%, BX: 17.89 ± 11.81%), with no significant difference found across groups (p > 0.05, Mann—Whitney U test). Statistical significance between groups was found in the result of soft tissue percentage (IBCP: 60.43 ± 12.73%, BX: 51.64 ± 14.63%, p = 0.046, Mann—Whitney U test). To conclude, IBCP and BX showed good osteoconductivity and biocompatibility with comparable new bone formation six months after alveolar ridge preservation

Histological and Radiological Features of a Four-Phase Injectable Synthetic Bone Graft in Guided Bone Regeneration: A Case Report

Background and objective: Injectable synthetic bone grafts (ISBG) are widely used biomaterials for regeneration purposes. The aim of this case report was to examine the efficacy of ISBG in the management of buccal fenestration in the case of a 25-year-old female. Case report: After a traumatic tooth extraction, the defect was filled with ISBG and covered with a resorbable membrane. The ISBG showed easy handling and the patient had no complications during healing. Six months after augmentation, a bone biopsy was taken during implant bed preparation. The histological results showed good integration of ISBG into the newly formed bone and no signs of tissue inflammation. Additionally, a CBCT (cone beam computed tomography) analysis was performed to support the histological results. Conclusion: The use of the examined ISBG led to successful treatment of the buccal fenestration defect