Beyond biomass production: Enhancing biodiversity while capturing carbon in short rotation coppice poplar plantations.

Biodiversity is essential for the functioning of ecosystems and the provision of services. In recent years, the role of plantations in mitigating climate change through carbon sequestration has been highlighted. In the Mediterranean area, high-density poplar plantations in short-rotation with resprouting management (SRC) have been established for biomass purposes on mostly irrigated agricultural land, coexisting with rainfed and irrigated agricultural crops. This study aims to assess the contribution of these plantations to this type of agroforest ecosystem in terms of biodiversity. For this purpose, both flora and fauna diversity were evaluated both within and outside of the plantation. Additionally, the accumulated carbon in the biomass, as well as in the accompanying vegetation within the plantation, was assessed. Different indices were used to evaluate both the intrinsic diversity of the forest plantation and the degree of substitution and complementarity between the different communities of the landscape. Our findings reveal distinct biodiversity patterns in the land-use scenarios sampled. Specifically, we observed significantly higher flora-species richness in SRC plantations than in the adjacent agricultural land, whereas fauna richness showed a similar but slightly higher level in the forested area. A moderate level of complementarity between land uses was found for insects and mammals (around 45 %), contrasting with high complementarity for birds (87 %) and flora (90 %). This suggests substantial turnover and replacement among these ecological environments. Our results indicate that a second rotation (4 year) plantation could accumulate a total of 61.6 Mg C ha-1, and even though adventitious flora represents <2 % of the total carbon accumulated, its importance in providing ecosystem services is considerable. Hence, these findings evidence the fact that SRC poplar plantations can enhance biodiversity in Mediterranean agroforest ecosystems and actively contribute to various provisioning ecosystem services, including carbon sequestration, reflecting a multi-objective approach that extends beyond biomass production.

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

Molecular characterization of Maccallumtrema xiphiados (Trematoda: Azygiida) and Molicola sp. (Cestoda: Trypanorhyncha) infecting commercial frozen slices of Atlantic swordfish.

Muscle gross lesions, associated to parasites, were routinely found during self-inspection in a Spanish fish plant processing Atlantic swordfish. To determine the taxonomic status of these parasites, molecular analysis was performed based on 18S, ITS1, 5.8S, ITS2 and 28S rDNA sequences, obtaining a consensus sequences of 4581 bp for the cestode and 4200 bp for the trematode. Taxonomic affiliation was determined by phylogenetic analysis of combined SSU + LSU rDNA regions using maximum likelihood models. Molecular characterization allows us to identify the trematode Maccallumtrema xiphiados and the cestode Molicola sp. infecting the musculature of the Atlantic swordfish. Both parasites are responsible of significant economic loss to fish industry due to commercial rejection of parasitized products.

Self-perception of primary health-care staff about physical activity on prescription: A qualitative semi-structured interview / Autopercepción de los profesionales sanitarios de Atención Primaria sobre la promoción y prescripción de ejercicio físico: entrevista cualitativa semiestructurada

Objective This study aimed to analyze the self-perception at primary health-care (PHC) nurses and general practitioners (GPs) toward PAP implementation in PHC centers. Material and methods Two semi-structured group interviews were performed separately, with five GPs and nurses working in the PHC system in the region of Madrid (Spain). An expert psychologist guided each semi-structured session. The interviews were transcribed verbatim and consensually analyzed using a content analysis. Results Half of the PHC staff considered themselves physically active and were convinced that physically active staff behavior could facilitate PAP with patients. Both GPs and nurses showed a lack of knowledge of exercise prescription but were interested in PAP and motivational training courses, as well as leadership or to collaborate under a multidisciplinary or interdisciplinary PAP approach. Some of the most relevant self-perceived PAP barriers were a confident method to measure sedentary and physical activity levels. Besides lack of staff awareness, time of consultation, and improving local community relationships and PAP policies strategies. Conclusions There are some common self-perceptions, barriers, and facilitators among PHC nurses and GPs for PAP implementation. Following a socio-ecologic approach, this organizational data provides further insight to design a future cost-effective policy strategy to improve patient health and health-care system sustainability. (AU)

Objetivo Este estudio tiene como objetivo analizar la autopercepción de las enfermeras y médicos de Atención Primaria para implementar la promoción y prescripción de ejercicio físico en sus centros. Material y métodos Dos entrevistas grupales semiestructuradas, con cinco enfermeras y cinco médicos que se encontraban trabajando en ese momento en el Sistema de Salud de la Comunidad de Madrid (España), fueron desarrolladas de forma independiente. Un psicólogo experto guio cada una de las sesiones. Las entrevistas grabadas, fueron transcritas y analizado su contenido de forma consensuada. Resultados La mitad de los profesionales sanitarios entrevistados se consideraron a sí mismos físicamente activos y convencidos de que dicho comportamiento podría facilitar la promoción y prescripción de ejercicio físico hacía sus pacientes. Ambos grupos mostraron una falta de conocimiento para prescribir ejercicio físico, pero se sentían interesados en adquirir la formación mediante cursos, así como de recibir formación para entrevistar de forma motivacional a sus pacientes. También mostraron liderazgo o colaboración para implementar la promoción y prescripción de ejercicio físico bajo un enfoque multi o interdisciplinar con otros profesionales. Algunas de las barreras sugeridas por ambos profesionales fue la falta de un método seguro para comprobar los niveles de actividad física y sedentarismo de sus pacientes. Además, de la falta de concienciación de sus compañeros de profesión, el limitado tiempo de consulta que poseen con cada paciente, y mejorar la colaboración con otros recursos comunitarios y desarrollar estrategias políticas adecuadas. Conclusiones Existen autopercepciones, barreras y facilitadores comunes entre los médicos y enfermeras de Atención Primaria para implementar la promoción y prescripción de ejercicio físico... (AU)

Self-perception of primary health-care staff about physical activity on prescription: A qualitative semi-structured interview.

OBJECTIVE: This study aimed to analyze the self-perception at primary health-care (PHC) nurses and general practitioners (GPs) toward PAP implementation in PHC centers. MATERIAL AND METHODS: Two semi-structured group interviews were performed separately, with five GPs and nurses working in the PHC system in the region of Madrid (Spain). An expert psychologist guided each semi-structured session. The interviews were transcribed verbatim and consensually analyzed using a content analysis. RESULTS: Half of the PHC staff considered themselves physically active and were convinced that physically active staff behavior could facilitate PAP with patients. Both GPs and nurses showed a lack of knowledge of exercise prescription but were interested in PAP and motivational training courses, as well as leadership or to collaborate under a multidisciplinary or interdisciplinary PAP approach. Some of the most relevant self-perceived PAP barriers were a confident method to measure sedentary and physical activity levels. Besides lack of staff awareness, time of consultation, and improving local community relationships and PAP policies strategies. CONCLUSIONS: There are some common self-perceptions, barriers, and facilitators among PHC nurses and GPs for PAP implementation. Following a socio-ecologic approach, this organizational data provides further insight to design a future cost-effective policy strategy to improve patient health and health-care system sustainability.

Methodological approach to spatial analysis of agricultural pest dispersal in olive landscapes.

The effectiveness of a Geographical Information Systems cost-distance tool for detecting landscape permeability in relation to the movement of pests in olive landscapes was established. The simplification of agricultural systems is linked to an increased incidence of pests on crops. Therefore, it is important to understand the impact of different land uses surrounding olive groves on pests. In this work, we analysed the effect of the structure of the olive landscape on the movement of two main olive pests-the olive fruit fly, Bactrocera oleae (Rossi) (Diptera: Tephritidae) and the olive moth, Prays oleae (Bernard) (Lepidopetera: Praydidae). We applied linear mixed effects models to analyse the relationship between pest abundance and cost-distance, using different hypotheses to evaluate those land uses that are favourable or unfavourable for the movement of these pests. The results show that this methodology is effective in detecting possible unfavourable land uses with a barrier effect, such as woodland and artificial land uses, and favourable land uses with a corridor effect such as olive groves. Whether other land uses, such as scrubland or riverbanks, act as a barrier or corridor depends on the pest and its life cycle stage. The effect that different land uses have in maintaining low levels of pest populations and ensuring the long-term sustainability of these agricultural systems are discussed. The implications of landscape permeability for the physical structure of the landscape and the dispersal of organisms, and the potential of that landscape to impact the continuous flow of natural processes are also addressed.

Iron nanoparticles to recover a co-contaminated soil with Cr and PCBs.

Little attention has been given to the development of remediation strategies for soils polluted with mixture of pollution (metal(loid)s and organic compounds). The present study evaluates the effectiveness of different types of commercial iron nanoparticles (nanoscale zero valent iron (nZVI), bimetallic nZVI-Pd, and nano-magnetite (nFe3O4)), for the remediation of an industrial soil co-contaminated with Cr and PCBs. Soil samples were mixed with nZVI, nZVI-Pd, or nFe3O4 at doses selected according to their reactivity with PCBs, homogenized, saturated with water and incubated at controlled conditions for 15, 45 and 70 days. For each sampling time, PCBs and chromium were analyzed in aqueous and soil fractions. Cr(VI) and Cr leachability (TCLP test) were determined in the soil samples. The treatment with the three types of iron nanoparticles showed significant reduction in Cr concentration in aqueous extracts at the three sampling times (> 98%), compared to the control samples. The leachability of Cr in treated soil samples also decreased and was stable throughout the experiment. Results suggested that nZVI and nZVI-Pd immobilized Cr through adsorption of Cr(VI) on the shell and reduction to Cr(III). The mechanism of interaction of nFe3O4 and Cr(VI) included adsorption and reduction although its reducing character was lower than those of ZVI nanoparticles. PCBs significantly decreased in soil samples (up to 68%), after 15 days of treatment with the three types of nanoparticles. However, nFe3O4 evidenced reversible adsorption of PCBs after 45 days. In general, nZVI-Pd reduced PCB concentration in soil faster than nZVI. Control soils showed a similar reduction in PCBs concentration as those obtained with nZVI and nZVI-Pd after a longer time (45 days). This is likely due to natural bioremediation, although it was not effective for Cr remediation. Results suggest that the addition of nZVI or nZVI-Pd and pseudo-anaerobic conditions could be used for the recovery of soil co-contaminated with Cr and PCBs.

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.

[The experience of caring for people with eating disorders: a qualitative study of nurses' perspectives].

BACKGROUND: Eating disorders (ED) are an increasingly prevalent problem with serious consequences for different spheres of life. This study aims to analyze nurses' perspectives and experiences of the care provided to people diagnosed with an ED. METHODS: Hermeneutical phenomenological qualitative study. Nineteen nurses from Alcalá de Henares (Madrid) collab-orated in the research sharing their experience through interviews and stories, which were recorded, transcribed and analyzed thematically. RESULTS: Three issues were obtained: a fight between the heart and mind, conscious reflection: the body says what the head keeps silent and learning how to care holistically. Nurses experience a struggle with their feelings of transference / countertransference when caring for patients. They set out to combine skills acquired from their experience with new research, without losing sight of the individual and the factors involved (family, society and work), which are key to understand the patient's experience and recovery. CONCLUSIONS: Nurses need more specialization, ongoing training, coordination and teamwork with other professionals to provide people with holistic care. Gender perspectives should be taken into account to enable care to be adapted to the needs of men and women. This study takes an in-depth look at the care relationship between nurse and patient, to obtain a hitherto unknown perspective of care, which makes it possible to expand knowledge and individualize the care provided.

La experiencia de cuidar a personas con trastornos alimentarios: un estudio cualitativo desde la perspectiva del profesional de enfermería / The experience of caring for people with eating disorders: a qualitative study of nurses' perspectives

FUNDAMENTO: Los trastornos de la conducta alimentaria (TCA), cada vez más prevalentes, tienen graves consecuencias sobre las diferentes esferas de la vida. El objetivo es analizar la visión y experiencia de profesionales de Enfermería sobre los cuidados prestados a personas diagnosticadas de un TCA. MÉTODO: Estudio cualitativo fenomenológico hermenéutico. Diecinueve enfermeras de Alcalá de Henares (Madrid) colaboraron en la investigación aportando su experiencia a través de entrevistas y relatos que fueron grabados, transcritos y analizados temáticamente. RESULTADOS: Se obtuvieron tres temas: una lucha entre cabeza y corazón, una reflexión consciente: el cuerpo dice lo que la cabeza calla, y aprender a cuidar de manera holística. El profesional experimenta una lucha con sus sentimientos de transferencia / contratransferencia a la hora de cuidar a los pacientes, trata de combinar los conocimientos fruto de la experiencia con las nuevas investigaciones, y considera la individualidad de la persona y todos los elementos implicados (familia, sociedad u ocupación) que resultan claves para el entendimiento de la vivencia del paciente y su recuperación. CONCLUSIONES: Es necesaria la especialización de las enfermeras, la formación continuada, la coordinación y el trabajo en equipo con otros profesionales para cuidar de manera holística a la persona. La perspectiva de género debe tenerse en cuenta para adaptar los cuidados a las necesidades de hombres y mujeres. Este estudio profundiza en la relación de cuidados entre enfermera y paciente, obteniendo una perspectiva desconocida de cuidados que posibilita ampliar el conocimiento e individualizar los cuidados prestados

BACKGROUND: Eating disorders (ED) are an increasingly prevalent problem with serious consequences for different spheres of life. This study aims to analyze nurses' perspectives and experiences of the care provided to people diagnosed with an ED. METHODS: Hermeneutical phenomenological qualitative study. Nineteen nurses from Alcalá de Henares (Madrid) collaborated in the research sharing their experience through interviews and stories, which were recorded, transcribed and analyzed thematically. RESULTS: Three issues were obtained: a fight between the heart and mind, conscious reflection: the body says what the head keeps silent and learning how to care holistically. Nurses experience a struggle with their feelings of transference / countertransference when caring for patients. They set out to combine skills acquired from their experience with new research, without losing sight of the individual and the factors involved (family, society and work), which are key to understand the patient's experience and recovery. CONCLUSIONS: Nurses need more specialization, ongoing training, coordination and teamwork with other professionals to provide people with holistic care. Gender perspectives should be taken into account to enable care to be adapted to the needs of men and women. This study takes an in-depth look at the care relationship between nurse and patient, to obtain a hitherto unknown perspective of care, which makes it possible to expand knowledge and individualize the care provided

Outcomes of primary total hip arthroplasty using 3D image-based custom stems in unselected patients: a systematic review.

To report clinical and radiographic outcomes of primary THA using three-dimensional (3D) image-based custom stems. This systematic review was performed according to PRISMA guidelines and registered with PROSPERO (CRD42020216079). A search was conducted using MEDLINE, Embase and Cochrane. Clinical studies were included if they reported clinical or radiographic outcomes of primary THA using 3D image-based custom stems. Studies were excluded if specific to patients with major hip anatomical deformities, or if not written in English. Fourteen studies were eligible for inclusion (n = 1936 hips). There was considerable heterogeneity in terms of manufacturer, proximal geometry, coating and length of custom stems. Revision rates ranged from 0% to 1% in the short-term, 0% to 20% in the mid-term, and 4% to 10% in the long-term, while complication rates ranged from 3% in the short-term, 0% to 11% in the mid-term and 0% to 4% in the long-term. Post-operative Harris hip scores ranged from 95 to 96 in the short-term, 80 to 99 in the mid-term, and 87 to 94 in the long-term. Radiographic outcomes were reported in eleven studies, although none reported 3D implant sizing or positioning, nor compared planned and postoperative hip architecture. Primary THA using 3D image-based custom stems in unselected patients provides limited but promising clinical and radiographic outcomes. Despite excellent survival, the evidence available in the literature remains insufficient to recommend their routine use. Future studies should specify proximal geometry, length, fixation, material and coating, as well as management of femoral offset and anteversion. The authors propose a classification system to help distinguish between custom stem designs based primarily on their proximal geometry and length.

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

BACKGROUND AND PURPOSE: Mutations in the early growth response 2 gene (EGR2) cause demyelinating, but also axonal, neuropathies differing in severity and age of onset. Except for one family, all reported cases have autosomal dominant inheritance and mutations are localized within the three zinc finger (ZNF) DNA-binding domain. The aim of this study was to provide a clinical and molecular analysis of a novel recessive mutation in EGR2. METHODS: Clinical and electrophysiological assessments of three affected patients, from a consanguineous family, were performed. Genetic analyses of EGR2 were carried out by Sanger sequencing. Functional effects of clinical recessive mutations were assessed using a mammalian two-hybrid assay. RESULTS: A novel missense mutation (c.791C>T; p.P264L) in the homozygous state was detected outside the ZNF domains of the EGR2 gene. Three affected siblings presented with distal demyelinating polyneuropathy with severe sensory loss, progressive thoracolumbar scoliosis and trigeminal neuralgia. Respiratory compromise and cranial nerve dysfunction were also found. Our data indicate that the p.P264L mutation prevents interaction of EGR2 transcription factor with NAB corepressors, suggesting that a disruption of the NAB-EGR2 protein interactions can result in dramatic neuropathy. CONCLUSION: Mutations in, or next to, the R1 domain of EGR2 should be considered with extreme caution for genetic counseling, since these could cause a severe neuropathy with an autosomal recessive manner of transmission.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

[Cannabidiol: its use in refractory epilepsies]. / Cannabidiol: uso en epilepsias refractarias.

INTRODUCTION: Some epileptic syndromes are characterised by seizures that are difficult to control and are associated to delayed neuropsychomotor development, which results in a deterioration in the patient's quality of life as well as in that of his or her family. AIM: To evaluate the use of cannabidiol as adjuvant therapy in patients with refractory epilepsies. PATIENTS AND METHODS: An observational study was conducted by means of a survey addressed to the patient's caregiver. Data collected included information about the patient and the caregiver, changes observed in the seizures, neuropsychological effects, side effects and the family's overall perception following the use of cannabidiol. RESULTS: The evaluation examined 15 patients with refractory epilepsies, who received cannabidiol over a period ranging from one month to one year. The frequency of seizures decreased in 40% of the patients, 60% of the patients were seen to have control over 50% of their seizures and in 27% of them the seizures disappeared completely. Neurocognitive changes were also reported: behaviour improved in 73%; 60% reported an improvement in language; in 50% sleep improved; 43% reported improvements in eating habits; and 100% said their mood had improved. The overall perception of the illness was that there had been improvements in 73% of respondents. The most common side effects were drowsiness and fatigue. CONCLUSIONS: These results suggest a possible beneficial effect of cannabidiol on the control of seizures and on the improvement of certain neurocognitive aspects in patients with refractory epilepsies.

TITLE: Cannabidiol: uso en epilepsias refractarias.Introduccion. Algunos sindromes epilepticos se caracterizan por crisis de dificil control y asocian un retraso en el desarrollo neuropsicomotor, lo que conlleva un deterioro en la calidad de vida del paciente y su familia. Objetivo. Evaluar el uso del cannabidiol como tratamiento adyuvante en pacientes con epilepsias refractarias. Pacientes y metodos. Se realizo un estudio observacional por medio de una encuesta dirigida a la persona cuidadora del paciente. Se valoro la informacion sobre el paciente y el cuidador, cambios observados sobre las crisis, efectos neuropsicologicos, efectos adversos y percepcion global de la familia tras el uso del cannabidiol. Resultados. Se evaluo a 15 pacientes con epilepsias refractarias, quienes recibieron cannabidiol durante un periodo de un mes a un año. En el 40% de los pacientes hubo una disminucion en la frecuencia de las crisis, en el 60% de los pacientes se observo un control de mas del 50% de las crisis y en el 27% las crisis desaparecieron totalmente. Tambien se comunicaron cambios neurocognitivos: en el 73% hubo una mejoria del comportamiento; el 60% notifico una mejoria en el lenguaje; el 50%, en el sueño; el 43%, en la alimentacion; y el 100%, en el estado de animo. La percepcion global sobre la enfermedad notifico una mejoria en el 73%. Los efectos adversos mas frecuentes fueron somnolencia y fatiga. Conclusiones. Estos resultados sugieren un posible efecto beneficioso del cannabidiol sobre el control de las crisis y en la mejoria de ciertos aspectos neurocognitivos en pacientes con epilepsias refractarias.

Microsporidians xenomas of anglerfish from NE Atlantic waters.

The presence of emergent visible parasites at commercial valuable fish species is increasingly causing problems at fisheries and seafood industries. Microsporidians have been previously reported to appear forming apparent xenomas complexes in anglerfish species, but no effort has been carried out to simultaneously integrate epidemiological data, phenotypic, genotypic and fine structural characterizations in the same parasite sample. In this work, specimens of Lophius budegassa and Lophius piscatorius from NE Atlantic waters were sampled and examined to provide information about specific site of infection and demographic data of two groups of different sizes of xenomas present at both fish species. Histological descriptions and scanning and transmission electron microscopy were carried out on fresh spores of Lophius budegassa for ultrastructural studies. In both types of xenomas, it was observed simultaneously the microsporidian genus Spraguea in the form of two different types of spores. Molecular analyses of both xenomas from the two fish species, based on the small subunit ribosomal DNA gene, were also performed to genetically support the morphological diagnostic provided.

[Possible treatments for infantile spinal atrophy]. / Posibilidades de tratamiento en la atrofia espinal infantil.

The new treatments of spinal muscular atrophy (SMA) due by SMN1 gene deletions are reviewed. There are several ways to increase the protein SMN, its activity and persistence in the tissues. Neuroprotective drugs as olesoxime or riluzole, and drugs acting by epigenetic mechanisms, as histone deacetylase inhibitors, have shown positive effects in preclinical studies but no clear efficacy in clinical trials. They might give in the future added benefits when used associated to other genetic modifying drugs. The best improvements in murine models of SMA and in clinical trials have been reached with antisense oligonucleotides, drugs that modify the splicing of SMN2, and they are expected to get better in the near future. Nusinersen, a methoxi-ethyl phosphotioate antisense oligonucleotide has recently approved for treatment of patients with SMA type 1 after having proved its efficacy in clinical trial phase 3. The results of nusinersen are reviewed. New modifications of antisense oligonucleotides with better access to brain, spinal cord and peripheral tissues are on the way. There are data of the efficacy of the genetic therapy with SMN1 gene through adenoassociated virus, now in phase 1 trial. A constant feature of these new treatments is that the earlier the treatment, the best are the results, and they are even better in presymptomatic stage. The general standards of care, particularly nutrition and respiratory management are needed in order to reach optimal results with the new therapies.

TITLE: Posibilidades de tratamiento en la atrofia espinal infantil.Se revisan los nuevos tratamientos de la atrofia muscular espinal (AME) producida por delecion del gen SMN1. Se describen las diferentes posibilidades de incrementar la proteina SMN, de su actividad y persistencia en el organismo. Farmacos neuroprotectores, como olesoxime y riluzol, y farmacos que actuan epigeneticamente, como inhibidores de histona deacetilasa, han mostrado cierto efecto positivo en fases preclinicas pero no han conseguido eficacia en los ensayos clinicos. Podrian proporcionar en un futuro un beneficio añadidos a otros farmacos modificadores geneticos. Los mayores cambios en estudios de modelos del raton SMA y en fases clinicas se han encontrado con oligonucleotidos antisentido que modifican el splicing del gen SMN2, y se espera que mejoren en el futuro proximo. Recientemente se ha aprobado el nusinersen, un metoxietilo fosforotioato-oligonucleotido antisentido, para uso en pacientes con AME de tipo I una vez demostrada su eficacia en pacientes en el ensayo en fase 3. Se revisan los resultados de este farmaco. Estan en marcha modificaciones de oligonucleotidos antisentido que amplien la liberacion en el sistema nervioso y en tejidos perifericos. Hay datos que sugieren eficacia de la terapia genica introduciendo el gen SMN1 mediante virus adenoasociados, actualmente en fase clinica 1. Una constante en estos nuevos tratamientos es que los resultados se optimizan en las etapas precoces de la enfermedad y, mejor aun, en estadio presintomatico. Se subraya la importancia de los cuidados generales optimos, especialmente nutricionales y respiratorios, para conseguir los mejores resultados con las nuevas terapias.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.

BACKGROUND AND PURPOSE: Pompe disease is a rare inheritable muscle disorder for which enzyme replacement therapy (ERT) has been available since 2006. Uniform criteria for starting and stopping ERT in adult patients were developed and reported here. METHODS: Three consensus meetings were organized through the European Pompe Consortium, a network of experts from 11 European countries in the field of Pompe disease. A systematic review of the literature was undertaken to determine the effectiveness of ERT in adult patients on a range of clinical outcome measures and quality of life. A narrative synthesis is presented. RESULTS: Consensus was reached on how the diagnosis of Pompe disease should be confirmed, when treatment should be started, reasons for stopping treatment and the use of ERT during pregnancy. This was based on expert opinion and supported by the literature. One clinical trial and 43 observational studies, covering a total of 586 individual adult patients, provided evidence of a beneficial effect of ERT at group level. At individual patient level, the response to treatment varied, but factors associated with a patient's response to ERT were not described in many studies. Eleven observational studies focused on more severely affected patients, suggesting that ERT can also be beneficial in these patients. There are no studies on the effects of ERT in pre-symptomatic patients. CONCLUSIONS: This is the first European consensus recommendation for starting and stopping ERT in adult patients with Pompe disease, based on the extensive experience of experts from different countries.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had 2 novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin-like phospholipase domain of the PLA2G6 protein.