Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

BACKGROUND: Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this study we estimate the proportion of these individuals within the general population, via the analyses of data from whole-genome sequencing. METHODOLOGY/PRINCIPAL FINDINGS: We screened complete and high-quality genome sequences from 46 control individuals from various world populations for HRD mutations, using bioinformatic tools developed in-house. All mutations detected in silico were validated by Sanger sequencing. We identified clear-cut, null recessive HRD mutations in 10 out of the 46 unaffected individuals analyzed (∼22%). CONCLUSIONS/SIGNIFICANCE: Based on our data, approximately one in 4-5 individuals from the general population may be a carrier of null mutations that are responsible for HRD. This would be the highest mutation carrier frequency so far measured for a class of Mendelian disorders, especially considering that missenses and other forms of pathogenic changes were not included in our assessment. Among other things, our results indicate that the risk for a consanguineous couple of generating a child with a blinding disease is particularly high, compared to other genetic conditions.

A cohort-based analysis of the evolution of lifetime prevalence of recourse to prostitution by men in the general population of Switzerland, 1987-2000

Background: Despite their relevance to the prevention of sexually transmitted infections, there are few data on the frequency of recourse to prostitution in the male population in Switzerland. Using data gathered for the evaluation of the Swiss AIDS prevention strategy, we analysed net aggregate change and cohort-based change in lifetime prevalence of recourse to prostitution. Methods: Seven repeated cross-sectional telephone surveys of the general population aged 17-45 years (17-30 years only for the 1987 and 1988 surveys) were undertaken from 1987 to 2000 providing information on sexual behaviour including men's recourse to prostitution (total n¼9318). Age categories were: 17-20, 21-25, 26-30, 31-35, 36-40 and 41-45 years. Prevalence at 17-30 years was available in all surveys and prevalence at 41-45 was available for 1989-2000, though not for the same cohorts. Intra-cohort increase in prevalence over 10 years was analysed using truncated information for cohorts aged 21-25 and 26-30 years in 1987 and 1990. Population estimates were computed with 95% confidence intervals (CI). Results: No net change occurred in the 17-45 years male population prevalence between 1989 (17.6%, CI ¼ 15.4; 20.0) and 2000 (17.7%, CI ¼ 15.6; 20.0). The median starting prevalence of recourse to prostitution at age 17-20 was 4.8% (in 1989, CI ¼ 2.0; 9.7) and the range was from 1.8 (in 1994) to 10.4% (in 1990). The median ending prevalence at age 41-45 was 21.9% (in 1994, CI 16.7; 27.9) and the range was from 17.9 (in 2000) to 26.1% (in 1992). No clear trend was observed in either starting or ending prevalence. Intra-cohort evolution of the 1997 and 1990 cohorts was very similar. Conclusions: Based on available data, there was no net (aggregate) change in the prevalence of recourse to prostitution by males in Switzerland between 1989 and 2000. Within the time frame available, intra-cohort evolution was also very similar.

Sleep structure and cardiometabolic disorders in the general population : the Hypnolaus study

Objectives: Previous studies using subjective assessments have reported associations between sleep quantity and quality and cardiometabolic disorders, but little is known regarding the associ-ations with objective sleep characteristics. The purpose of this study was to evaluate the association between objective sleep measure sand metabolic syndrome (MS), hypertension, diabetes and obesity. Methods: 2162 subjects (51.2% women, mean age 58,11.1) from the general population were evaluated for hypertension,diabetes, overweight/obesity and MS, and underwent a full polysom-nography (PSG). PSG measured variables included: Total sleep time(TST), percentage and time spent in slow wave sleep (SWS) and in rapid eye movement (REM) sleep, sleep efficiency and arousal index(ArI) Results: In univariate analyses, MS was associated with decreased TST, SWS, REM sleep, sleep efficiency and increased ArI. After adjustment for age, gender, smoking, alcohol, physical activity, drugsthat affect sleep and depression, the ArI remained significantly higher, but the difference disappeared in subjects without significant sleep disordered breathing (SDB). Differences in sleep structure were also found according to the presence or absence of hypertension, diabetes and overweight/obesity in univariate analysis. However, these differences were attenuated after multivariate adjustment and after excluding subjects with significant SDB. Conclusions: In this population-based sample we found significant associations between sleep structure and MS, hypertension, diabetes and obesity. However, these associations were cancelled after multivariate adjustment. We conclude that normal variations in sleep contribute little if any to MS and associated disorders.

Prevalence, awareness, treatment and control of hypertension in a Swiss general population: the CoLaus Study

Objective: To assess the prevalence levels of awareness, treatment and control of hypertension and associated factors in Switzerland. Methods: Population-based cross-sectional study of 6,182 subjects (52.5% women) aged 35-75 years living in Lausanne, Switzerland. Hypertension was defined as blood pressure ≥140/90 mm Hg or current antihypertensive medication. Results: The overall prevalence of hypertension was 36% (95% CI: 35-38%). Among hypertensive participants, 63% were aware of having hypertension. Among aware hypertensives, 78% were treated, and among treated hypertensives 48% were controlled (BP <140/90 mmHg). In multivariate analysis, prevalence of hypertension was associated with older age, male gender, low educational level, high alcohol intake, awareness of diabetes, awareness of dyslipidaemia, obesity and parental history of myocardial infarction (MI). Awareness of hypertension was associated with older age, female gender, awareness of diabetes, awareness of dyslipidaemia, obesity and parental history of MI. Control was associated with younger age, higher educational level and no alcohol intake. Alone or in combination, sartans were the most often prescribed antihypertensive medication category (41%), followed by diuretics, beta-blockers, ACE inhibitors and calcium channel blockers. Only 31% of treated hypertensives were taking ≥2 antihypertensive medications. Conclusion: Although more than half of the participants with hypertension were aware of being hypertensive and more than three quarters of them received a pharmacological treatment, less than half of those treated were adequately controlled. Treated hypertensive subjects should be followed up more closely.

A general multiserver state-dependent queueing system

The work studies a general multiserver queue in which the service time of an arriving customer and the next interarrival period may depend on both the current waiting time and the server assigned to the arriving customer. Stability of the system is proved under general assumptions on the predetermined distributions describing the model. The proof exploits a combination of the Markov property of the workload process with a regenerative property of the process. The key idea leading to stability is a characterization of the limit behavior of the forward renewal process generated by regenerations. Extensions of the basic model are also studied.

Política pública en Francia: prohibición general o parcial del velo integral en el territorio nacional: Proyecto de ley del martes 11 de mayo de 2010

La República francesa se ofende por los burkas y de los niqab deambulando por las calles. Ve a sus principios rectores de Liberté, Égalité, Fraternité mofados, a su democracia desafiada, a su convivencia arriesgada. Por ello, el Gobierno francés ha impulsado desde hace un año una política pública que persigue la prohibición del velo integral -llámese burka o niqab- en el conjunto del espacio público. Años atrás, Francia, país que tanto aprecia los debates, se vio inmersa en la cuestión más general de la identidad nacional desde las reacciones de las banlieues en el 2005. Y por ello, Nicolas Sarkosy, en su programa electoral camino de las presidenciales en el 2007, ya incluía como una prioridad el tema de los valores y principios genuinamente franceses y europeos. Y en esta perspectiva, el Ministerio de Inmigración añadió sus calificativos de Integración e Identidad Nacional. El burka en el espacio público ha asaltado los medios de comunicación y la sociedad en su conjunto, especialmente desde hace dos o tres años. Es un problema sin precedentes en las democracias asentadas -aunque podríamos recordar el motín de Esquilache en 1766 bajo el reinado de Carlos III- sin una Jurisprudencia asentada al respecto, ni un marco normativo que lo prevea directamente. Y por ello, la élite política se divide estos días entre los prudentes y los atrevidos, los que se conforman con una prohibición parcial y los que persiguen una prohibición absoluta. Se trata de una política pública atípica, pues los bienes afectados son en realidad valores, principios y conceptos abstractos. Es la República francesa y la cohesión social los que se ven desafiados. Veremos en un primer momento, la etapa de identificación como problema público y su inclusión en la agenda política, por ende desde un punto de vista técnico, analizaremos brevemente esta política pública Top down limitada, y en el último apartado compararemos los argumentos de las dos alternativas que dispone actualmente el Parlamento para aprobar o no una ley al respecto. Por su parte, la Comisión Parlamentaria alegará principios de índole más filosófica que pragmática, mientras que el Consejo de Estado se centrará exclusivamente en los términos jurídicos y en la Jurisprudencia reduciendo en gran medida el impulso inicial del Gobierno. Quedará por ver estos días de debate en l’Assemblée Nationale1 si la prohibición será total o parcial.

Nematode parasites of Brazilian Ciconiiformes Birds: a general survey with new records for the species

This report deals with the identification of one hundred and fifty-nine samples of nematodes recovered from Brazilian egrets and herons. Contracaecum microcephalum, C. multipapillatum, C. plagiaticium, Desportesius invaginatus, D. longevaginatus, Desmidocercella ardeae, Eustrongylides ignotus, Porrocaecum reticulatum, Tetrameres micropenis, Capillaria sp., Contracaecum sp., Porrocaecum sp., Procyrnea sp., Tetrameres sp. and Viktorocara sp. were studied. The genus Viktorocara and the species C. microcephalum, C. plagiaticium, D. invaginatus, D. ardeae and P. reticulatum are referred in Brazil for the first time.

Colocaciones léxicas en dicconarios monolingües generales del español

El objetivo de la presente investigación es analizar el tratamiento que algunos de los diccionarios generales monolingües del español aparecidos en los últimos diez años han dado al fenómeno de las colocaciones léxicas, a saber, aquellas combinaciones de palabras que, desde el punto de vista de la norma, presentan ciertas restricciones combinatorias, esencialmente de carácter semántico, impuestas por el uso (Corpas: 1996). Los repertorios objeto de análisis han sido: el "Diccionario Salamanca de la lengua española", dirigido por Juan Gutiérrez (1996); el "Diccionario del español actual", de Manuel Seco, Olimpia Andrés y Gabino Ramos (1999); la vigésima segunda edición del diccionario de la RAE (2001); y el "Gran diccionario de uso del español actual. Basado en el corpus Cumbre", dirigido por Aquilino Sánchez (2001). Nuestro estudio se ha fundamentado en un corpus de 52 colocaciones léxicas confeccionado a partir del análisis de las subentradas contenidas en la letra "b" de cada uno de los diccionarios seleccionados. Posteriormente, hemos examinado las entradas correspondientes a cada uno de los elementos que constituyen la colocación (base y colocativo) con el fin de observar si los diccionarios estudiados dan cuenta de estas mismas combinaciones en otras partes del artículo lexicográfico, como son las definiciones o los ejemplos. A la hora de analizar la información lexicográfica hemos centrado nuestra atención en cuatro aspectos: a) la información contenida en las páginas preliminares de cada una de las obras; b) la ubicación de las colocaciones en el artículo lexicográfico; c) la asignación de la colocación a un artículo determinado; y d) la marcación gramatical.

The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population.

OBJECTIVE: To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population. METHODS: Analysis for comparison of proportional differences to a previous publication between anomaly subgroups, according to subgroup definitions of the European Surveillance of Congenital Anomalies (EUROCAT), a population-based database. RESULTS: Most EUROCAT subgroups belonging to the VACTERL association contained only one or 2 records of TNF-α antagonist exposure, so comparison of proportions was imprecise. Only the category "limb abnormalities" showed a significantly higher proportion in the general population. CONCLUSION: The high number of congenital anomalies belonging to the VACTERL association from a report of pregnancies exposed to TNF-α antagonists could not be confirmed using a population-based congenital anomaly database.

L'ús dels clítics pronominals del català i la seva adquisició per parlants de romanès i de tagal

El nostre estudi ha analitzat els mecanismes de transferència de la L1 en dos grups de parlants, un que té el romanès i l’altre el tagal com a llengües mare, en el procés d’aprenentatge del català com a L2. En concret ens hem centrat en l’estudi de l’ús dels clítics pronominals, una de les parts de la gramàtica catalana més apassionant per les seves idiosincràsies i la seva diversitat formal. L’ús d’aquest tipus de pronoms és un aspecte que resulta complicat d’adquirir per parlants de llengües en què no existeixen o on l’ús que en fan és diferent. En el nostre estudi, ens hem basat inicialment en la descripció de les característiques fonamentals dels clítics pronominals del català, del romanès i del tagal, a partir de bibliografia especialitzada i més general, i, en el cas del català, fent servir també la pròpia competència. Després d’aquest apartat més descriptiu, hem utilitzat un corpus d’entrevistes fetes en català a dos grups de parlants, el primer amb aprenents de català que tenen el romanès com a L1 i el segon amb aprenents de català que tenen el tagal com a L1, per analitzar quantitativament i qualitativament l’ús dels clítics pronominals. Un altre grup d’entrevistes, aquesta vegada a persones autòctones (català L1), ens ha servit com a grup de control. El nostre estudi dóna suport a la hipòtesi que atorga una importància especial a la transferència de la L1 en l’adquisició d'una segona llengua en general, i en la dels clítics pronominals d’una llengua romànica, en particular. Els resultats mostren que hi ha diferències entre els dos grups d'aprenents que són estadísticament significatives (ús del programa SPSS) i poden ser atribuïdes a les característiques de la L1.

Aspectes de l'adquisició de la quantificació en català

Aquest estudi té dos objectius principals. Per una banda, vol contribuir a la caracterització de l'adquisició dels quantificadors en llengua catalana i, per l'altra, pretén comprovar si hi ha diferències en l'adquisició dels quantificadors universals tots i cada entre els infants amb un desenvolupament típic i els infants amb trastorn específic del llenguatge

Planificació general a l'aula inclusiva. El cas del Solsonès

El present treball de recerca es centra en l’estudi de la programació general de l’aula en entorns inclusius. Concretament, s’ha dut a terme un estudi de cas a la comarca del Solsonès ja que les característiques demogràfiques i educatives d’aquesta comarca han facilitat la inclusió escolar de tot l’alumnat amb discapacitat a l’aula ordinària. Els principals objectius de la investigació són descriure les pràctiques de planificació general del professorat de la comarca del Solsonès que ha atès a alumnat amb necessitats educatives especials i conèixer els aspectes relacionats amb la programació didàctica que es poden millorar a partir de processos de formació permanent i assessorament. L’anàlisi de la informació recollida a través de qüestionaris realitzats al professorat del Solsonès i un grup de discussió als professionals dels serveis externs, ens ha permès conèixer les pràctiques de planificació del professorat del Solsonès i fins a quin punt són similars a bones pràctiques, com l’Ensenyament Multinivell o el Disseny Universal de l’Aprenentatge, desenvolupades en altres contextos; així com, quins són els principals problemes i dificultats amb què es troben els i les professionals a l’hora de dur a terme les programacions a l’aula.

Nematode parasites of Brazilian piciformes birds: a general survey with description of Procyrnea anterovulvata n. sp. (Habronematoidea, Habronematidae)

Thirty species of nematodes recovered from Piciformes hosts are reported. Procyrnea anterovulvata n. sp. from Chelidoptera tenebrosa brasiliensis is described and compared to P. colaptes and P. pileata. The considered morphometric parameters are mainly related to the ratio between length of the body/distance of the vulva to the anterior end. It is approximately 1:0.5 in P. colaptes and P. pileata compared to 1:0.1 in the new species. The male of Synhimantus (Dispharynx) crassissima is described for the first time. Thelazia (Thelaziella) spizaeti is revalidated and new records are reported for some species.

Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.

Genetic determinants of blood pressure are poorly defined. We undertook a large-scale, gene-centric analysis to identify loci and pathways associated with ambulatory systolic and diastolic blood pressure. We measured 24-hour ambulatory blood pressure in 2020 individuals from 520 white European nuclear families (the Genetic Regulation of Arterial Pressure of Humans in the Community Study) and genotyped their DNA using the Illumina HumanCVD BeadChip array, which contains ≈50 000 single nucleotide polymorphisms in >2000 cardiovascular candidate loci. We found a strong association between rs13306560 polymorphism in the promoter region of MTHFR and CLCN6 and mean 24-hour diastolic blood pressure; each minor allele copy of rs13306560 was associated with 2.6 mm Hg lower mean 24-hour diastolic blood pressure (P=1.2×10(-8)). rs13306560 was also associated with clinic diastolic blood pressure in a combined analysis of 8129 subjects from the Genetic Regulation of Arterial Pressure of Humans in the Community Study, the CoLaus Study, and the Silesian Cardiovascular Study (P=5.4×10(-6)). Additional analysis of associations between variants in gene ontology-defined pathways and mean 24-hour blood pressure in the Genetic Regulation of Arterial Pressure of Humans in the Community Study showed that cell survival control signaling cascades could play a role in blood pressure regulation. There was also a significant overrepresentation of rare variants (minor allele frequency: <0.05) among polymorphisms showing at least nominal association with mean 24-hour blood pressure indicating that a considerable proportion of its heritability may be explained by uncommon alleles. Through a large-scale gene-centric analysis of ambulatory blood pressure, we identified an association of a novel variant at the MTHFR/CLNC6 locus with diastolic blood pressure and provided new insights into the genetic architecture of blood pressure.