Genome-wide association analysis identifies 20 loci that influence adult height.

Adult height is a model polygenic trait, but there has been limited success in identifying the genes underlying its normal variation. To identify genetic variants influencing adult human height, we used genome-wide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. We identified 20 variants associated with adult height (P < 5 x 10(-7), with 10 reaching P < 1 x 10(-10)). Combined, the 20 SNPs explain approximately 3% of height variation, with a approximately 5 cm difference between the 6.2% of people with 17 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. The loci we identified implicate genes in Hedgehog signaling (IHH, HHIP, PTCH1), extracellular matrix (EFEMP1, ADAMTSL3, ACAN) and cancer (CDK6, HMGA2, DLEU7) pathways, and provide new insights into human growth and developmental processes. Finally, our results provide insights into the genetic architecture of a classic quantitative trait.

Unintentional injuries among 16 to 20 year old students in Switzerland.

In our society, accidents constitute a major public health problem, especially among youth. The objective of this paper was to describe the incidence of nonfatal injuries that required medical care among 16 to 20 year-old in Switzerland, its distribution by type of injury and whether there were differences by gender or by academic track and whether these injuries had sequels (hospitalisation, physical and psychological sequels). Overall, 28.3% of the sample reported at least one accident needing medical care in the previous 12 months, with males having more accidents than females and apprentices more than students. By type of accident, sports were the most frequently reported, followed by traffic, leisure time and work accidents. Half of males and one-third of females reported more than one accident, and 16% and 8% of them, respectively, reported four or more. Both physical and psychological sequels were more frequent among females, while hospitalisation was more frequent among males. Accident prevalence rates remain high among adolescents. Safety counselling and environmental measures need to be implemented.

20 years of eosinophilic esophagitis in Olten county: population-based, prospective documentation of an increasing incidence

Background and Aims: Eosinophilic Esophagitis (EoE) is reported with increasing frequency over the last two decades. However, it is still unknown whether this reflects a true increase in incidence or just an increased awareness by gastroenterologists. Therefore, we evaluated the incidence and cumulative prevalence of EoE in Olten county over the last 20 years. Methods: Olten county is an area of approximately 91,000 inhabitants without pronounced demographic changes in the last two decades. EoE evaluation is based upon two gastroenterology centers and one pathology center. No public programs for increased EoE awareness were implemented in this region. All EoE patients diagnosed from 1989 to 2009 were entered prospectively into the Olten county database. Results: Fourty-six patients (76% males, mean age 41±16 yrs) were diagnosed with EoE from 1989 to 2009. Ninety-four percent presented with dysphagia. In 70% of the patients concomitant allergies were found. The number of upper endoscopies per year was stable during the entire observation period. An average annual incidence rate of 2/100,000 was found (range 0-8) with a marked increase in the period from 2001 to 2009. A current cumulative EoE prevalence of 43/100,000 inhabitants was calculated. The mean diagnostic delay (time from first symptoms to diagnosis) was 4.3 years from 1989 to 1998 and 4.8 years from 1999 to 2009. Conclusions: Over the last 20 years, a significant increase in EoE incidence was found in a stable indicator region of Switzerland. The constant rate of upper endoscopies, the constant diagnostic delay, as well as the lack of EoE awareness programs in Olten county indicate a true increase in EoE incidence.

20 Year Strategy for the Irish Language 2010 to 2030 Progress Report: 2010 - 2015

Over the last five years, the Department of Education and Skills (DES) has continued to fulfil the commitments set out in its implementation plan under the 20-Year Strategy for Irish on a phased and systematic basis. This report gives an insight into the progress made during this period under the following headings: Interdepartmental High-Level Group Gaeltacht education Curriculum development O Primary level O Post-primary level Assessment COGG - Support services and resources Teacher education Links with the use of the language outside of school O Irish language colleges Exemptions from Irish Provision for Irish-medium schools Policy for Irish in the public service.

20 Year Strategy for the Irish Language 2010 to 2030 Progress Report: July 2013 - Sept 2014

DES has commenced a review of education in the Gaeltacht with a view to identifying options for educational provision in primary and post-primary schools in Gaeltacht areas of varying linguistic profiles as well as clarifying the Department’s policy with regard to teaching through Irish in such schools. The review will also look at the impact of pre-school provision on primary education in Gaeltacht areas. Furthermore, the review will identify support measures for teachers’ practice that would be required to improve teaching through Irish in Gaeltacht schools. This review will complement the implementation of the Gaeltacht Act 2012.

20 Year Strategy for the Irish Language 2010-2030

The objective of Government policy in relation to Irish is to increase on an incremental basis the use and knowledge of Irish as a community language. Specifically, the Government’s aim is to ensure that as many citizens as possible are bilingual in both Irish and English. It is an integral component of the Government’s Irish language policy that close attention be given to its place in the Gaeltacht, particularly in light of research which indicates that the language’s viability as a household and community language in the Gaeltacht is under threat. The aim of Government policy is also to: increase the number of families throughout the country who use Irish as the daily language of communication; provide linguistic support for the Gaeltacht as an Irish-speaking community and to recognise the issues which arise in areas where Irish is the household and community language; ensure that in public discourse and in public services the use of Irish or English will be, as far as practical, a choice for the citizen to make and that over time more and more people throughout the State will choose to do their business in Irish; and ensure that Irish becomes more visible in our society, both as a spoken language by our citizens and also in areas such as signage and literature

Cumulative risk factors for adolescent alcohol misuse and its perceived consequences among 16 to 20 year old adolescents in Switzerland

Rapport de synthèse : OBJECTIF: évaluer l'impact cumulatif des facteurs individuels et environnementaux associés au mésusage d'alcool chez les adolescents et leurs corrélations avec ses conséquences perçues. METHODE : enquête scolaire transversale d'un échantillon représentatif de la population nationale, incluant 7548 apprentis et élèves ayant terminé l'école obligatoire âgés de 16 à 20 ans, en Suisse, en 2002. Le mésusage de l'alcool est fondé sur les réponses aux questions portant sur la fréquence 1) de sa consommation, 2) des épisodes d'ivresse et 3) de la conduite d'un véhicule sous son emprise. RÉSULTATS : quinze facteurs de risque significatifs ont été identifiés pour les adolescents des deux sexes. Un score individuel de facteurs de risques cumulés a été calculé en les additionnant. L'association entre ce score et la probabilité d'être engagé dans le mésusage d'alcool s'est révélée hautement significative et dose dépendante (p<0.001). Une proportion importante des adolescents rapporte des conséquences subjectives néfastes liées à leur consommation d'alcool. Il existe une corrélation linéaire (p<0.001) entre le score de facteurs de risque et la proportion d'adolescents rapportant des problèmes liés à la consommation d'alcool tels que mauvaises performances scolaires, comportements à risque, problèmes relationnels et comportements sexuels à risques. CONCLUSION : les facteurs de risque du mésusage d'alcool chez les adolescents sont cumulatifs et peuvent être synthétisés par un score individuel corrélé à la tendance à ce mésusage. La relation linéaire de ce score avec des problèmes subjectifs consécutifs à ce mésusage est un indicateur supplémentaire de sa validité.

Central corneal thickness, intraocular pressure, and degree of myopia in an adult myopic population aged 20 to 40 years in southeast Spain: determination and relationships

Objective: To determine the values of, and study the relationships among, central corneal thickness (CCT), intraocular pressure (IOP), and degree of myopia (DM) in an adult myopic population aged 20 to 40 years in Almeria (southeast Spain). To our knowledge this is first study of this kind in this region. Methods: An observational, descriptive, cross-sectional study was done in which a sample of 310 myopic patients (620 eyes) aged 20 to 40 years was selected by gender- and age-stratified sampling, which was proportionally fixed to the size of the population strata for which a 20% prevalence of myopia, 5% epsilon, and a 95% confidence interval were hypothesized. We studied IOP, CCT, and DM and their relationships by calculating the mean, standard deviation, 95% confidence interval for the mean, median, Fisher’s asymmetry coefficient, range (maximum, minimum), and the Brown-Forsythe’s robust test for each variable (IOP, CCT, and DM). Results: In the adult myopic population of Almeria aged 20 to 40 years (mean of 29.8), the mean overall CCT was 550.12 μm. The corneas of men were thicker than those of women (P = 0.014). CCT was stable as no significant differences were seen in the 20- to 40-year-old subjects’ CCT values. The mean overall IOP was 13.60 mmHg. Men had a higher IOP than women (P = 0.002). Subjects over 30 years (13.83) had a higher IOP than those under 30 (13.38) (P = 0.04). The mean overall DM was −4.18 diopters. Men had less myopia than women (P < 0.001). Myopia was stable in the 20- to 40-year-old study population (P = 0.089). A linear relationship was found between CCT and IOP (R2 = 0.152, P ≤ 0.001). CCT influenced the IOP value by 15.2%. However no linear relationship between DM and IOP, or between CCT and DM, was found. Conclusions: CCT was found to be similar to that reported in other studies in different populations. IOP tends to increase after the age of 30 and is not accounted for by alterations in CCT values.

Urological complications in renal transplantation from cadaveric donor grafts : a retrospective analysis of 20 years

Résumé : Introduction Cette étude est une analyse rétrospective des complications urétérales et de leurs prises en charge à partir d'une série monocentrique de 277 transplantations rénales consécutives. Matériel et méthode De septembre 1979 à juin 1999, 277 transplantations rénales (origine cadavérique) ont été pratiquées chez 241 patients. L'uretère provenant de la greffe rénale a été inséré dans la vessie selon la technique d'implantation extravésicale décrite par Lich-Gregoir et Campos-Freire. L'étude a analysé la date de survenue et le genre de complications observés. Les différentes procédures pour restaurer le tractus urinaire transplanté sont présentées dans cette étude. Résultats Des complications sont survenues chez 43/277 transplantations rénales (15,5%). Les fuites urinaires sur l'anastomose ou les sténoses urétérales étaient les plus fréquentes. La date de survenue de ces complications étaient soit précoce (< 1 mois) soit tardive (> 1 mois) dans un nombre similaire de cas. La plupart des cas ont été pris en charge chirurgicalement 33/43 cas (76,7%). La réparation chirurgicale la plus fréquente a été la réimplantation urétérovésicale (n-13), suivie par : l'anastomose urétérourétérale termino-terminale (uretère natif-uretère greffé, n-5) ; l'anastomose pyélourétérale (uretère natif-bassinet rénal greffé, n=5) ; la simple révision de l'implantation urétérovésicale (n=4) ; la résection et l'anastomose termino-terminale de l'uretère greffé (n=2) ; la calico-vésicostomie (vessie greffée, n=1) ; l'implantation selon Boari (n=1) ; la pyélovésicostomie avec bipartition de la vessie (n-1), et la pyéloiléocystoplastie avec greffe iléale détubularisée (n=1). Aucun décès en relation avec les complications urologiques n'a été rapporté. Cependant, 2 reflux vésico-rénaux consécutifs ont conduit à distance à la perte du greffon. Conclusion Le taux de complications constaté dans cette analyse rétrospective est similaire à celui observé dans d'autres études. Il se situe entre 2 et 20%. Si l'implantation urétérovésicale extravésicale classique reste une technique attractive en raison de sa simplicité, l'équipe chirurgicale dans un centre de formation doit rester attentive à toute mesure de prévention des complications urétérales, comme le choix d'une autre technique d'implantation de l'uretère et/ou de l'insertion transitoire d'un stent urétéral. Abstract Introduction: This study is a retrospective analysis of ureteral complications and their management from a monocenter series of 277 consecutive renal transplantations. Materials and Methods: From September 1979 to June 1999, 277 renal transplantations (cadaveric origin) were performed in 241 patients. The ureter from the kidney graft was inserted into the bladder according to the technique of extravesical implantation described by Lich-Gregoir and Campos-Freire. The study analyzed the time of occurrence and the type of complications observed. The different procedures to restore the transplanted urinary tract are presented. Results: Complications occurred in 431277 renal transplantations (15.5%). Anastomotic urine leakage or ureteral stricture were the most frequent. The time to appearance of these complications was either short (<1 month) or late (>1 month) in a similar number of cases. Most cases were managed surgically: 33/43 cases (76.7%). The most frequent surgi cal repair was ureterovesical reimplantation n =13), Followed by: ureteroureteral end, to end anastomosis (native ureter-ureter transplant, n =, 5); pyeloureteral anastomosis (native ureter-renal pelvis transplant n = 5): simple revision of ureterovesical implantation (n=4): resection and end-to end anastomosis of the transplant ureter (n=2); calico-vesicostomy graft-bladder, n = 1); implantation according to Boari (n= 1); pyelovesicostomy with bipartition of bladder (n = 1), and pyeloileocystoplasty with detubularized ileal graft (n=1). No deaths related to any of the urological complications were reported However, 2 consecutive vesico-renal refluxes led to the loss of the kidney graft in the long-term. Conclusion: The rate of complications observed in this retrospective analysis is similar to the experience of other studies, ranging from 2 to 20% If the classical extravesical ureteral bladder implantation is to remain an attractive technique due to its simplicity, the surgical team at the training center should be aware of all the means to prevent any ureteral complications, such as the choice of another implantation technique and/or insertion of a transient ureteral stent.