Calidad de vida en pacientes con fosfatasa alcalina persistentemente baja portadores o no de mutaciones del gen ALPL

Introducción: Los niveles bajos de fosfatasa alcalina (FAlc) en suero son el sello distintivo de la hipofosfatasia, un trastorno debido a variantes patogénicas del gen ALPL. Nuestro objetivo fue determinar la calidad de vida relacionada con la salud en adultos con fosfatasa alcalina baja y explorar las diferencias entre pacientes con y sin mutaciones en ALPL. Material y métodos: Estudiamos 35 pacientes adultos con FAlc persistentemente baja en los que se excluyeron causas adquiridas y se secuenció ALPL. Se compararon con 35 controles de igual edad. Se completaron tres cuestionarios sobre dolor (Brief Pain Inventory, BPI), discapacidad física (Health Assessment Questionnaire Disability Index, HAQ-DI) y calidad de vida relacionada con la salud (36-item Short-Form Health Survey, SF-36). Resultados: Las puntuaciones medias de intensidad e interferencia del dolor en el BPI fueron mayores en el grupo de pacientes (p=0,04 y 0,004, respectivamente). Todos los dominios del instrumento HAQ tendieron a puntuar peor en los pacientes, con diferencias significativas en la puntuación de "alcance" (p=0,037) y la puntuación media general (0,23 frente a 0,09; p=0,029). Los pacientes puntuaron peor que los controles en varias dimensiones del SF-36 (rol físico, p=0,039; dolor corporal p=0,046; rol emocional, p=0,025). Sin embargo, los pacientes con y sin variantes patogénicas puntuaron de manera similar en todas las pruebas, sin diferencias significativas entre los grupos. Conclusiones: Los pacientes con niveles persistentemente bajos de FAlc tienen puntuaciones significativamente peores en dolor corporal y otras dimensiones de calidad de vida relacionadas con la salud, sin diferencias entre pacientes con y sin variantes patogénicas en el gen ALPL. Esto es consistente con la hipótesis de que estos últimos presenten mutaciones en regiones reguladoras, habitualmente no secuenciadas, del gen ALPL

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.RP is supported by a postdoctoral fellowship (SFRH/BPD/81986/2011) awarded by the Portuguese Foundation for Science and Technology (FCT) and co-financed by the European Social Fund (Human Potential Thematic Operational Programme – POPH

Effects of transportation, transport medium and re-housing on Xenopus laevis (Daudin)

Understanding the immediate and longer-term effects of transportation and re-housing in a laboratory species is crucial in order to refine the transfer process, enable the optimal introduction of new animals to a novel environment and to provide a sufficient acclimatisation period before usage. Whilst consideration of animal welfare in most model vertebrate species has received attention, little quantitative evidence exists for the optimal care of the common laboratory amphibian Xenopus laevis. Techniques for the non-invasive welfare assessment of amphibians are also limited and here a non-invasive physiological assay was developed to investigate the impacts of transportation, transport medium and re-housing on X. laevis. First the impacts of transportation and transport medium (water, damp sponge or damp sphagnum moss) were investigated. Transportation caused an increase in waterborne corticosterone regardless of transport medium. Frogs transported in damp sphagnum moss also had a greater decrease in body mass in comparison to frogs not transported, suggesting that this is the least suitable transport medium for X. laevis. Next the prolonged impacts of transportation and re-housing were investigated. Frogs were transported between research facilities with different housing protocols. Samples were collected prior to and immediately following transportation, as well as 1 day, 7 days and 35 days after re-housing. Water-borne corticosterone increased following transportation and remained high for at least 7 days, decreasing to baseline levels by 35 days. Body mass decreased following transportation and remained lower than baseline levels across the entire 35 day observation period. These findings suggest the process of transportation and re-housing is stressful in this species. Together these findings have important relevance for both improving animal welfare and ensuring optimal and efficient scientific research

El día en que el "rock" llegó a Burgos

"Este Artículo pertenece a la sección Arte, Letras, Espectáculos.

Impact of technological creep on fishing effort and fishing mortality, for a selection of European fleets

Face-to-face interviews were conducted to identify the main changes in gear and vessel technology that may have improved the fishing efficiency of a number of French, Danish, and Basque fleets over the past few decades. Important changes include the gradual appearance of twin trawls (Danish and French trawlers) and trammel-nets (French gillnetters), and the increased polyvalence of Basque bottom trawlers. The results suggest that fishing effort descriptors that are not traditionally measured (gear type, groundrope type, length of net used per day, headline length, crew size, number of winch or net drums) may have a substantial impact on catch rates. Adjusting fishing effort using such descriptors may generally improve the relationship between fishing effort and fishing mortality

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

Background: Low serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown. We aimed to determine health-related quality of life in adults with low alkaline phosphatase and explore the differences between patients with and without ALPL mutations. Methods: We studied 35 adult patients with persistently low alkaline phosphatase unrelated to secondary acquired causes who had ALPL sequenced, and 35 controls of similar age. Three questionnaires about body pain (Brief Pain Inventory, BPI), physical disability (Health Assessment Questionnaire Disability Index, HAQ-DI), and health-related quality of life (36-item Short-Form Health Survey, SF-36) were delivered by telephone interviews. Results: The mean BPI intensity and interference scores were higher in the patient group (p=0.04 and 0.004, respectively). All domains of the HAQ instrument tended to score better in the control group, with significant differences in the ?reach? score (p=0.037) and the overall mean score (0.23 vs 0.09; p=0.029). Patients scored worse than controls in several SF-36 dimensions (Role physical, p=0.039; Bodily pain p=0.046; Role emotional, p=0.025). Patients with and without pathogenic variants scored similarly across all tests, without between-group significant differences. Conclusions: Patients with persistently low levels of alkaline phosphatase have significantly worse scores in body pain and other health-related quality of life dimensions, without differences between patients with and without pathogenic variants identified in ALPL gene. This is consistent with the latter ones carrying mutations in regulatory regions.HypophosphatasiaAlkaline phosphataseQuality of lifePatient-reported outcomesPainDisabilit