ABSTRACT
The genetic variation of the European population at a macro-geographic scale follows genetic gradients which reflect main migration events. However, less is known about factors affecting mating patterns at a micro-geographic scale. In this study we have analyzed 726,718 autosomal single nucleotide variants in 435 individuals from the catalan Pyrenees covering around 200 km of a vast and abrupt region in the north of the Iberian Peninsula, for which we have information about the geographic origin of all grand-parents and parents. At a macro-geographic scale, our analyses recapitulate the genetic gradient observed in Spain. However, we also identified the presence of micro-population substructure among the sampled individuals. Such micro-population substructure does not correlate with geographic barriers such as the expected by the orography of the considered region, but by the bishoprics present in the covered geographic area. These results support that, on top of main human migrations, long ongoing socio-cultural factors have also shaped the genetic diversity observed at rural populations.
ABSTRACT
The area of the Spanish Pyrenees is particularly interesting for studying the demographic dynamics of European rural areas given its orography, the main traditional rural condition of its population and the reported higher patterns of consanguinity of the region. Previous genetic studies suggest a gradient of genetic continuity of the area in the West to East axis. However, it has been shown that micro-population substructure can be detected when considering high-quality NGS data and using spatial explicit methods. In this work, we have analyzed the genome of 30 individuals sequenced at 40× from five different valleys in the Spanish Eastern Pyrenees (SEP) separated by less than 140 km along a west to east axis. Using haplotype-based methods and spatial analyses, we have been able to detect micro-population substructure within SEP not seen in previous studies. Linkage disequilibrium and autozygosity analyses suggest that the SEP populations show diverse demographic histories. In agreement with these results, demographic modeling by means of ABC-DL identify heterogeneity in their effective population sizes despite of their close geographic proximity, and suggests that the population substructure within SEP could have appeared around 2500 years ago. Overall, these results suggest that each rural population of the Pyrenees could represent a unique entity.
Subject(s)
Gene Pool , Reproductive Isolation , Rural Population , Haplotypes , Humans , Linkage Disequilibrium , Polymorphism, Genetic , Spain , Whole Genome Sequencing/statistics & numerical dataABSTRACT
BACKGROUND: Biosecurity is a key measure to reduce and prevent the introduction of diseases to farms and minimise spread of diseases within a herd. The aim of the study was to characterise the current application of biosecurity measures on dairy cattle farms in Spain along with their bovine viral diarrhoea and infectious bovine rhinotracheitis status. METHODS: Data on biosecurity measures for 124 dairy herds were collected using a questionnaire. The sanitary status of these farms for bovine viral diarrhoea and infectious bovine rhinotracheitis was also assessed using antibody ELISA. Data were analysed using multiple correspondence analysis and a two-step cluster analysis. RESULTS: Three main clusters of farms were identified: clusters 1 and 2 included herds of small and intermediate sizes. These, particularly cluster 1, showed the most deficiencies in the control of vehicles and visitors. However, laboratory tests were always performed on purchased animals. Cluster 3 had the largest herd sizes, with somewhat better biosecurity control of vehicles and visitors. However, farms in this cluster also purchased the most animals, sometimes without testing, and hired external workers more often. CONCLUSION: The study indicated that, in the study population, there are serious shortcomings in the application of biosecurity measures on dairy farms, exposing them to disease transmission. This survey also highlights regional and herd size-related differences in the implementation of biosecurity. Collecting data is an important first step to identification of specific weaknesses in different farm typologies, and an adequate follow-up is needed to ensure that measures are implemented correctly on farms.
Subject(s)
Humans , Male , Infant , Facial Asymmetry/complications , Facial Asymmetry/diagnosis , Facial Asymmetry/therapy , Clavicle/injuries , Focal Dermal Hypoplasia/complications , Focal Dermal Hypoplasia/diagnosis , Apgar Score , Gestational Age , /trends , Facial Muscles/injuries , Facial Muscles/pathology , Facial MusclesABSTRACT
Web-based interventions are effective on the patient empowerment. Guiametabolica.org constitutes an interface for people involved in inherited metabolic diseases, trying to facilitate access to information and contact with professionals and other patients, offering a platform to develop support groups. Guiametabolica.org is widely considered for Spanish-speaking patients and caregivers with inherited metabolic diseases. Preliminary evaluations show changes in their habits, decrease in their senses of isolation and improvement regarding self-efficacy. Specific inherited metabolic diseases websites, especially participative websites, should be considered as a complement to more traditional clinical approaches. Their contribution lies in patient's general well-being, without interfering with traditional care.
Subject(s)
Genetic Diseases, Inborn/genetics , Internet , Metabolic Diseases/genetics , Patient Education as Topic , Power, Psychological , Genetic Diseases, Inborn/psychology , Humans , Metabolic Diseases/psychologyABSTRACT
Fundamento. Dado el déficit de pediatras, existen dificultades para la cobertura pediátrica en diferentes zonas, obligando a buscar nuevas alternativas. Objetivo. Presentamos los resultados de dos años de funcionamiento de un modelo innovador de autogestión, basado en una cooperativa de profesionales ligada a un hospital docente de referencia. Métodos. En octubre de 2009 se realizó un convenio entre la Fundació Sant Hospital de la Seu dUrgell (FSH), el Institut Català de la Salut, el Hospital Sant Joan de Déu de Barcelona y el Departament de Salut, para prestar asistencia pediátrica (primaria y hospitalaria) en la comarca del Alt Urgell. Los pediatras se constituyeron en una sociedad cooperativa catalana limitada professional, Pediatria dels Pirineus, asumiendo las decisiones asistenciales, organizativas, económicas y legales. Resultados. Se ha conseguido cubrir el 100% de la asistencia pediátrica, dotar de una excelente accesibilidad en el ambulatorio (100% de éxito para visitas pediátricas <48 horas y 0,46-0,66 días de demora para cita previa), incrementar notablemente los estándares de calidad asistencial y disminuir en un 30% las visitas pediátricas en el Servicio de Urgencias de la FSH (del 66% en horarios de obertura del ambulatorio). Se ha objetivado una disminución del 33% de las derivaciones a otros centros y del 41% de los traslados interhospitalarios. A nivel docente se han consolidado las sesiones en el territorio y mejorado la asistencia de los profesionales a los cursos formativos (media de 6,5 cursos/profesional año 2010 y 5,6 año 2011). Conclusiones. Este modelo permite una mejor cobertura pediátrica, con visión territorial, continuidad en la atención, integración en el sistema de salud y sostenibilidad(AU)
Background. The shortage of pediatricians makes universal pediatric coverage of some areas difficult to achieve; new approaches are needed. Objective. We present the results of two years of operation of an innovative model of self-management, based on a cooperative of health care professionals linked to a tertiary academic center. Method. An agreement was signed in October 2009 between the Sant Hospital Foundation of La Seu dUrgell (SHF), the Catalan Institute of Health, the Sant Joan de Deu Hospital in Barcelona, and the Department of Health, to provide primary and hospital pediatric care in the Alt Urgell county. As part of this agreement, pediatricians were organized around the professional cooperative society Pyrenees Pediatrics, assuming the patient care, organizational, legal, and financial responsibilities. Results. Pyrenees Pediatrics provides coverage to 100% of children in the region, with excellent access to primary clinics. There has been a 100% success rate for pediatric visits in < 48 hours, and 0.46-0.66 days delay for appointments, a remarkable improvement in the quality of care standards, and a decrease from 60% to 30% in the pediatric visits to the Emergency Department at SHF during primary clinic hours. There has been a decrease of referrals to centers outside the region and hospital transfers of 33% and 41%, respectively. Finally, there has been a significant improvement in attendance to continuing medical education courses (average of 6.5 and 5.6 courses/professional in 2010 and 2011, respectively). Conclusions. This model allows for the provision of a better pediatric coverage, with a regional vision, continuity in care, integration within the health care system, and sustainability(AU)
Subject(s)
Humans , Male , Female , Child , /organization & administration , Maternal-Child Health Services , Pediatrics/methods , Pediatrics/organization & administration , Community Networks/organization & administration , Community Networks , Self Administration/methods , Self Administration/trends , Pediatrics/ethics , Pediatrics , Pediatrics/trends , Cooperative Behavior , Commission on Professional and Hospital Activities/organization & administration , Professional Review Organizations/organization & administrationABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Radiography, Thoracic/methods , Radiography, Thoracic , Fever/etiology , Fever , Cough/etiology , Cough , Chilaiditi Syndrome/complications , Chilaiditi Syndrome/etiology , Chilaiditi Syndrome/physiopathology , Chilaiditi SyndromeABSTRACT
No disponible
Subject(s)
Male , Adolescent , Humans , Mercury Poisoning/diagnosis , Dermatitis, Allergic Contact/diagnosis , Erythema/diagnosis , Edema/diagnosisABSTRACT
No disponible
