Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs

Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated serum creatine kinase activity. Two affected dogs also showed poor development, learning difficulties and episodes of abnormal behaviour. In these two dogs, investigations into forebrain structural and metabolic diseases were unremarkable; electromyography demonstrated fibrillation potentials and complex repetitive discharges in the infraspinatus, supraspinatus and epaxial muscles. Histopathological, immunohistochemical and immunoblotting analyses of muscle biopsies were consistent with dystrophin-deficient muscular dystrophy. DNA samples were obtained from all four full-sibling male Poodles, a healthy female littermate and the dam, which was clinically normal. Whole genome sequencing of one affected dog revealed a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene. The exact deletion breakpoints could not be experimentally ascertained, but we confirmed that this region was deleted in all affected males, but not in the unaffected dogs. Quantitative polymerase chain reaction confirmed all three affected males were hemizygous for the mutant X chromosome, while the wildtype chromosome was observed in the unaffected male littermate. The female littermate and the dam were both heterozygous for the mutant chromosome. Forty-four Miniature Poodles from the general population were screened for the mutation and were homozygous for the wildtype chromosome. The finding represents a naturally-occurring mutation causing dystrophin-deficient muscular dystrophy in the dog

Alcances e obstáculos do accountability midiático na América Latina após a Terceira Onda da Democratização

Una de las más clásicas funciones normativas de los medios de comunicación en las democracias es la de ser vigilantes del poder, tanto para servir como defensores de la ciudadanía como para que la opinión pública tome correctas decisiones. El presente trabajo discute desde una posición crítica la accountability mediática en América Latina tras la Tercera Ola de la Democracia hasta el presente, la que si bien ha tenido una importante labor denunciante e investigativa en determinados casos de corrupción política, se postula como limitada por dos razones: la primera, la alta concentración de la propiedad de los sistemas de medios regionales ha provocado un bajo pluralismo informativo que puede poner en duda los verdaderos alcances e intenciones de la vigilancia que realizan los medios al poder y su aporte a las democracias. Por otra parte, y como segunda razón, las reformas de los últimos años llevadas a cabo por algunos gobiernos de liderazgo progresista o populista no han creado un ambiente propicio para esta función, al contrario, han propiciado carencias para la libertad informativa, principio básico para la accountability mediática. A modo de conclusión, se reflexiona sobre la importancia de fomentar el pluralismo informativo y la libertad de expresión como bases para la vigilancia de los medios al poder en la región latinoamericana.One of the most classic normative functions of media in democracies is to be vigilant of power, both to serve as defenders of the citizens and for the public opinion to make correct decisions. This paper discusses from a critical perspective the accountability of the media in Latin America from the Third Wave of Democracy up to date, which has been important in denouncing and investigating certain cases of political corruption, but has been limited for two reasons: the first is the high concentration of ownership of regional media systems, have led to a very low level of informative pluralism which calls into question the true scope and intentions of the surveillance that the media can carry out of power and its contribution to democracy. On the other hand, the second reason is the reforms carried out in recent years by the leadership of some progressive or populist governments that have not created a proper environment for this function, and on the contrary, have provided shortcomings for the freedom of information, a basic principle for media accountability. As a conclusion, this paper reflects on the importance of promoting informative pluralism and freedom of expression as the basis of media surveillance of power in the Latin American region.Uma das mais clássicas funções normativas dos meios de comunicação nas democracias é a de ser vigilantes do poder, tanto para servir como defensores da cidadania quanto para que a opinião pública tome decisões corretas. Este trabalho discute, sob uma posição crítica, o accountability midiático na América Latina após a Terceira Onda da Democratização até o presente, a que, embora tenha tido um importante trabalho denunciante e investigativo em determinados casos de corrupção política, apresenta-se como limitada por duas razões: a alta concentração da propriedade dos sistemas de meios regionais que provoca um baixo pluralismo informativo que pode colocar em dúvida os verdadeiros alcances e intenções da vigilância realizados pelos meios ao poder e sua contribuição para a democracia; por outro lado, e como segunda razão, as reformas dos últimos anos realizadas por alguns governos de liderança progressista ou populista que não criaram um ambiente propício para essa função; ao contrário, promoveram carências para a liberdade informativa, princípio básico para o accountability midiático. Como conclusão, reflexiona-se sobre a importância de fomentar o pluralismo informativo e a liberdade de expressão como bases para a vigilância dos meios ao poder na região latino-americana.https://revistas.udem.edu.co/index.php/anagramas/article/view/194

Remitido : en un litigio que en 2ª instancia sigue el presbitero D. pedro Beltran con D. Pedro de Barrios sobre la posesion del patronato ...

Se trata de un escrito acerca de lo ocurrido con el juez del partido de La Orotava, Antonio González Crespo, en el litigio que sobre posesión de un patronato sigue el presbítero Pedro Beltrán contra Pedro de BarriosTexto firmado por Vicente Perdomo BethencourtDatos de imp. tomados del colofónTexto fechado en el Realejo de abajo el 24 de enero de 1840Texto a dos col

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of α-dystroglycan. Compound heterozygous LARGE mutations have been reported in a single human patient, manifesting with mild congenital muscular dystrophy (CMD) and severe mental retardation. These mutations are likely to retain some residual LARGE glycosyltransferase activity as indicated by residual α-dystroglycan glycosylation in patient cells. We hypothesized that more severe LARGE mutations are associated with a more severe CMD phenotype in humans. Here we report a 63-kb intragenic LARGE deletion in a family with Walker-Warburg syndrome (WWS), which is characterized by CMD, and severe structural brain and eye malformations. This finding demonstrates that LARGE gene mutations can give rise to a wide clinical spectrum, similar as for other genes that have a role in the post-translational modification of the α-dystroglycan protein

Hybrid speciation in Heliconius butterflies? A review and critique of the evidence

The evidence supporting the recent hypothesis of a homoploid hybrid origin for the butterfly species Heliconius heurippa is evaluated. Data from selective breeding experiments, mate-choice studies, and a wide variety of DNA markers are reviewed, and an alternative hypothesis for the origin of the species and its close relatives is proposed. A scenario of occasional red wing-pattern mutations in peripheral populations of Heliconius cydno with subsequent adaptive convergence towards sympatric mimicry rings involving H. melpomene and H. erato is offered as an alternative to the HHS hypothesis. Recent twists of this tale are addressed in a postscript

Adenocarcinoma arising in a cystic duplication of the small bowel: case report and review of literature

Enteric duplications are rare, but can occur anywhere along the digestive tract. Most of the patients become symptomatic in early childhood and only a few cases of adult patients have been reported in literature. Here we report a unique case of an adenocarcinoma arising in a coincidentally found cystic duplication of the small bowel

The effects of thiopurine therapy on health-related quality of life in Inflammatory Bowel Disease patients

<p>Abstract</p> <p>Background</p> <p>The effect of thiopurine immunomodulators on health-related quality of life (HRQoL) in patients with inflammatory bowel disease (IBD) has been controversial. The aims were to evaluate the HRQoL in patients with IBD treated with thiopurines and assess the short- and long-term impacts of the treatment on HRQoL.</p> <p>Methods</p> <p>Ninety-two consecutive patients who started treatment with thiopurines were prospectively included. Evaluation of HRQoL was performed at months 0, 6, and 12 using two questionnaires, the Short-Form Health Survey (SF-36) and the Inflammatory Bowel Disease Questionnaire (IBDQ).</p> <p>Results</p> <p>Baseline score of IBDQ was 4,6, range (2,31-6,84), with an impairment of the five dimensions of HRQoL compared with inactive patients. Results obtained in 8 dimensions of SF-36 showed worse HRQoL than Spanish general population. At 6 months patients had a significant improvement in overall IBDQ score -5,8 (1,58 -6,97)- and also in all IBDQ dimensions. All the 8 dimensions of SF-36 obtained a significant improvement. At twelve months score of IBDQ was 6,1, range (2,7-6,98), with improvement in all dimensions compared with baseline and 6 months. SF-36 showed a similar significant improvement in all subscales.</p> <p>Conclusions</p> <p>Thiopurine immunomodulators alone or with other treatments have a positive and long lasting impact on HRQoL of IBD patients.</p

Bovine Tuberculosis in Doñana Biosphere Reserve: The Role of Wild Ungulates as Disease Reservoirs in the Last Iberian Lynx Strongholds

Doñana National Park (DNP) in southern Spain is a UNESCO Biosphere Reserve where commercial hunting and wildlife artificial feeding do not take place and traditional cattle husbandry still exists. Herein, we hypothesized that Mycobacterium bovis infection prevalence in wild ungulates will depend on host ecology and that variation in prevalence will reflect variation in the interaction between hosts and environmental risk factors. Cattle bTB reactor rates increased in DNP despite compulsory testing and culling of infected animals. In this study, 124 European wild boar, 95 red deer, and 97 fallow deer were sampled from April 2006 to April 2007 and analyzed for M. bovis infection. Modelling and GIS were used to identify risk factors and intra and inter-species relationships. Infection with M. bovis was confirmed in 65 (52.4%) wild boar, 26 (27.4%) red deer and 18 (18.5%) fallow deer. In the absence of cattle, wild boar M. bovis prevalence reached 92.3% in the northern third of DNP. Wild boar showed more than twice prevalence than that in deer (p<0.001). Modelling revealed that M. bovis prevalence decreased from North to South in wild boar (p<0.001) and red deer (p<0.01), whereas no spatial pattern was evidenced for fallow deer. Infection risk in wild boar was dependent on wild boar M. bovis prevalence in the buffer area containing interacting individuals (p<0.01). The prevalence recorded in this study is among the highest reported in wildlife. Remarkably, this high prevalence occurs in the absence of wildlife artificial feeding, suggesting that a feeding ban alone would have a limited effect on wildlife M. bovis prevalence. In DNP, M. bovis transmission may occur predominantly at the intra-species level due to ecological, behavioural and epidemiological factors. The results of this study allow inferring conclusions on epidemiological bTB risk factors in Mediterranean habitats that are not managed for hunting purposes. Our results support the need to consider wildlife species for the control of bTB in cattle and strongly suggest that bTB may affect animal welfare and conservation

Factors affecting survival in Mediterranean populations of the Eurasian eagle owl

The survival rate is a key parameter for population management and the monitoring of populations. Thus, an analysis of survival rate variations and the factors influencing the same is essential for understanding population dynamics. Here, we study the factors determining the survival and the causes of mortality of the Eurasian eagle owl (Bubo bubo) in two Spanish Mediterranean populations (Murcia and Seville) where the species has a high population density and breeding success; yet its survival rates and the factors that affect them are unknown. Between 2003 and 2010, 63 breeding owls were captured and radio-tracked. Three monthly (quarterly) survival rates were estimated using known-fate models in the program MARK. The mean overall annual survival rate was 0.776 (95 % CI: 0.677, 0.875). We observed survival differences between sexes, and between the breeding and non-breeding periods, although no overwhelming support was found for any particular model. We concluded that (i) females have a lower survival rate than males, probably due to their larger home ranges, which increase the risk of mortality; (ii) the survival rates of both sexes were lower during the non-breeding period; and (iii) the causes of mortality differed significantly between the two populations, gunshot being the main cause in Seville and electrocution in Murcia.Peer Reviewe