Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 269
Filtrar
1.
Emerg Infect Dis ; 27(11): 2856-2863, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34670647

RESUMO

We report a disease and mortality event involving swans, seals, and a fox at a wildlife rehabilitation center in the United Kingdom during late 2020. Five swans had onset of highly pathogenic avian influenza virus infection while in captivity. Subsequently, 5 seals and a fox died (or were euthanized) after onset of clinical disease. Avian-origin influenza A virus subtype H5N8 was retrospectively determined as the cause of disease. Infection in the seals manifested as seizures, and immunohistochemical and molecular testing on postmortem samples detected a neurologic distribution of viral products. The fox died overnight after sudden onset of inappetence, and postmortem tissues revealed neurologic and respiratory distribution of viral products. Live virus was isolated from the swans, seals, and the fox, and a single genetic change was detected as a potential adaptive mutation in the mammalian-derived viral sequences. No human influenza-like illness was reported in the weeks after the event.


Assuntos
Encefalite , Vírus da Influenza A Subtipo H5N8 , Influenza Aviária , Focas Verdadeiras , Animais , Centros de Reabilitação , Estudos Retrospectivos
2.
Rev Sci Tech ; 37(3): 925-936, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30964459

RESUMO

Wildlife health is important for conservation, healthy ecosystems, sustainable development and biosecurity. It presents unique challenges for national programme governance and delivery because wildlife health not only crosses jurisdictional responsibilities and authorities but also inherently spans multiple sectors of expertise. The World Organisation for Animal Health (OIE) encourages its Members to have wildlife disease monitoring and notification systems. Where national wildlife health surveillance programmes do exist, they vary in scope and size. Evidence-based guidance is lacking on the critical functions and roles needed to meet the OIE's recommendations and other expectations of a national programme. A literature review and consultation with national wildlife health programme leaders identified five key attributes of national programmes: 1) being knowledge and science based; 2) fostering cross-nation equivalence and harmonisation; 3) developing partnerships and national coordination; 4) providing leadership and administration of national efforts; and 5) capacity development. Proposed core purposes include: 1) establishment and communication of the national wildlife health status; 2) leading national planning; 3) centralising information and expertise; 4) developing national networks leading to harmonisation and collaborations; 5) developing wildlife health workforces; and 6) centralising administration and management of national programmes. A national wildlife health programme should aim to identify, effectively communicate and manage the risk to or from a country's wildlife populations. It should generate the appropriate knowledge required to improve the effectiveness of wildlife policies and systems, including identifying and assessing emerging priorities, thus facilitating early warning, preparedness and preventive actions.


La santé de la faune sauvage a un impact important sur la préservation des espèces et d'écosystèmes sains, sur le développement durable et sur la biosécurité. Les défis sont nombreux et complexes pour les programmes nationaux de gouvernance et de mise en oeuvre car les responsabilités et les compétences juridictionnelles sont croisées et les secteurs d'expertise sont multiples. L'Organisation mondiale de la santé animale (OIE) encourage ses Membres à mettre en place des systèmes de notification et de surveillance des maladies de la faune sauvage. Les programmes existants sont de tailles et de compétences variables et les orientations prises concernant les fonctions indispensables pour répondre aux recommandations de l'OIE et à ce qui est attendu d'un programme national ne sont pas toujours déterminées sur une base scientifique. Une revue de la littérature et des consultations auprès de responsables des programmes nationaux de santé de la faune sauvage ont permis d'identifier cinq attributs à proposer pour ces programmes nationaux. Ces programmes doivent :1) fonctionner sur la base de données scientifiques ; 2) favoriser l'équivalence et l'harmonisation transnationales ; 3) développer des partenariats et une coordination à l'échelle nationale ; 4) encadrer et administrer les efforts nationaux ; et 5) assurer le renforcement des capacités. Les missions essentielles sont : 1) déterminer et rendre publique la situation sanitaire de la faune sauvage dans le pays ; 2) encadrer le plan national ; 3) centraliser l'information et l'expertise ; 4) développer les réseaux nationaux d'harmonisation et de collaboration ; 5) former des personnels compétents dans le domaine de la faune sauvage ; et 6) centraliser l'administration et la gestion des programmes nationaux. Les objectifs d'un programme national de santé de la faune sauvage sont d'identifier, de rendre publics et de gérer les risques pour les populations d'animaux sauvages ainsi que les risques générés par ces mêmes populations. Ces programmes doivent promouvoir les connaissances nécessaires pour améliorer l'efficacité des politiques et des systèmes applicables à la faune sauvage, en particulier l'identification et l'évaluation des nouvelles priorités afin de faciliter la mise en oeuvre de systèmes d'alerte précoce, de préparation aux urgences et d'action préventive.


La salud de los animales silvestres, tan importante para la conservación del medio, el buen funcionamiento de los ecosistemas, el desarrollo sostenible y la seguridad biológica, presenta singulares dificultades desde el punto de vista de la gobernanza y aplicación de programas nacionales, dado que la fauna silvestre no solo toca a múltiples responsabilidades y atribuciones jurisdiccionales sino que, por su propia naturaleza, convoca a una plétora de especialidades técnicas. La Organización Mundial de Sanidad Animal (OIE) alienta a sus Miembros a que se doten de sistemas de vigilancia y notificación de enfermedades de la fauna silvestre. Allí donde existen, los programas nacionales en la materia son muy variopintos en cuanto a sus dimensiones y alcance. Faltan pautas científicamente sólidas sobre las funciones y atribuciones básicas que se requieren para cumplir las recomendaciones de la OIE y otras expectativas a las que pueda responder un programa nacional. Tras efectuar un estudio bibliográfico y consultar a los directivos de programas nacionales en la materia, los autores determinaron cinco atributos clave que debe reunir todo programa nacional: 1) estar basado en el saber y la ciencia; 2) favorecer la equivalencia y la armonización entre naciones; 3) crear alianzas y mecanismos de coordinación nacional; 4) encabezar y administrar las actividades a escala nacional; y 5) desarrollar los medios de acción del país. Los objetivos básicos propuestos son: 1) determinar y dar a conocer la situación sanitaria de la fauna silvestre del país; 2) dirigir las labores de planificación a escala nacional; 3) centralizar la información y las competencias especializadas; 4) instituir redes nacionales que propicien la armonización y las iniciativas de colaboración; 5) desarrollar los recursos humanos dedicados a la sanidad de la fauna silvestre; y 6) centralizar la gestión y administración de los programas nacionales. Todo programa nacional de sanidad de la fauna silvestre debe responder a la finalidad de detectar, comunicar eficazmente y gestionar los riesgos que amenacen a las poblaciones de animales silvestres del país o que provengan de ellas. A tal efecto debe generar el conocimiento adecuado y necesario para conferir más eficacia a las políticas y sistemas tocantes a la fauna silvestre, lo que supone, entre otras cosas, determinar y evaluar las nuevas prioridades, facilitando con ello la alerta anticipada y las labores de preparación y prevención.


Assuntos
Animais Selvagens , Animais , Saúde Global , Liderança
3.
J Wound Care ; 26(11): 614-624, 2017 11 02.
Artigo em Inglês | MEDLINE | ID: mdl-29131754

RESUMO

OBJECTIVE: Surgical site infection (SSI) is a common cause of postoperative morbidity. Perioperative hypothermia may contribute to surgical complications including increased risk of SSI. In this systematic review and meta-analysis, the effectiveness of active and passive perioperative warming interventions to prevent SSI was compared with standard (non-warming) care. METHOD: Ovid MEDLINE; Ovid EMBASE; EBSCO CINAHL Plus; The Cochrane Wounds Specialised Register, and The Cochrane Central Register of Controlled Trials were searched, with no restrictions on language, publication date or study setting for randomised controlled trials (RCTs) and cluster RCTs. Adult patients undergoing elective or emergency surgery under general anaesthesia, receiving any active or passive warming intervention perioperatively were included. Selection, risk of bias assessment and data extraction were performed by two review authors, independently. Outcomes studied were SSI (primary outcome), inpatient mortality, hospital length of stay and pain (secondary outcomes). RESULTS: We identified four studies, including 769 patients. The risk ratio (RR) for SSI in warming groups was 0.36 [95% confidence interval (CI): 0.23, 0.56; p<0. 001]. Length of hospitalisation was 1.13 days less in warming groups [95% CI: -3.07, 5.33; p=0.600]. The RR for mortality in the warming groups was 0.77 [95% CI: 0.17, 3.43; p=0.730]. A meta-analysis for pain outcome could not be conducted. CONCLUSION: This review provides evidence in favour of active warming to prevent SSI, but insufficient evidence of active warming to reduce length of hospital stay and mortality. Benefits of passive warming remain unclear and warrant further research.


Assuntos
Temperatura Alta/uso terapêutico , Hipotermia/prevenção & controle , Mortalidade , Assistência Perioperatória/métodos , Infecção da Ferida Cirúrgica/prevenção & controle , Humanos , Hipotermia/terapia
4.
Gene Ther ; 22(4): 316-24, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25588740

RESUMO

Intracerebral administration of recombinant adeno-associated vector (AAV) has been performed in several clinical trials. However, delivery into the brain requires multiple injections and is not efficient to target the spinal cord, thus limiting its applications. To assess widespread and less invasive strategies, we tested intravenous (IV) or intrathecal (that is, in the cerebrospinal fluid (CSF)) delivery of a rAAVrh10-egfp vector in adult and neonate rats and studied the effect of the age at injection on neurotropism. IV delivery is more efficient in neonates and targets predominantly Purkinje cells of the cerebellum and sensory neurons of the spinal cord and dorsal root ganglia. A single intra-CSF administration of AAVrh10, single strand or oversized self-complementary, is efficient for the targeting of neurons in the cerebral hemispheres, cerebellum, brainstem and spinal cord. Green fluorescent protein (GFP) expression is more widespread in neonates when compared with adults. More than 50% of motor neurons express GFP in the three segments of the spinal cord in neonates and in the cervical and thoracic regions in adults. Neurons are almost exclusively transduced in neonates, whereas neurons, astrocytes and rare oligodendrocytes are targeted in adults. These results expand the possible routes of delivery of AAVrh10, a serotype that has shown efficacy and safety in clinical trials concerning neurodegenerative diseases.


Assuntos
Gânglios Espinais/metabolismo , Técnicas de Transferência de Genes , Células de Purkinje/metabolismo , Células Receptoras Sensoriais/metabolismo , Medula Espinal/metabolismo , Administração Intravenosa , Animais , Animais Recém-Nascidos , Vetores Genéticos , Ratos Sprague-Dawley
5.
Neurogenetics ; 16(1): 65-7, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25418441

RESUMO

Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein, we describe a patient with early-onset epilepsy who subsequently developed a progressive neurological phenotype including parkinsonism in her early teens. A de novo mutation in STXBP1 (c.416C>T, p.(Pro139Leu)) was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings implicate a secondary impairment of mitochondrial function in the progressive nature of the disease phenotype.


Assuntos
Complexo I de Transporte de Elétrons/deficiência , Epilepsia/genética , Doenças Mitocondriais/genética , Proteínas Munc18/genética , Mutação de Sentido Incorreto , Transtornos Parkinsonianos/genética , Encéfalo/fisiopatologia , Criança , Progressão da Doença , Eletroencefalografia , Complexo I de Transporte de Elétrons/genética , Epilepsia/complicações , Exoma , Feminino , Humanos , Doenças Mitocondriais/complicações , Transtornos Parkinsonianos/complicações , Fenótipo
6.
Spinal Cord Ser Cases ; 7(1): 11, 2021 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-33574230

RESUMO

INTRODUCTION: Sustaining a spinal cord injury (SCI) has been shown to impose a significant physical and psychological challenge with threat to quality of life (QOL). Duff & Kennedy provide a SCI explanation of appraisals and the two-stage process of an individual's primary assessment of their experience, and their secondary appraisal of their perceived coping resource being key facilitators of adjustment and fundamental to longer term adaptation. King & Kennedy designed a group coping effectiveness training (CET) intervention with a framework of coping strategy selection fit to reduce use of threat appraisals/avoidance coping, and to promote development of challenge appraisals with consequent stress reduction and adjustment. CASE PRESENTATION: This CET approach was applied within individual psychological therapy with a 74-year old woman who presented with symptoms of anxiety, reactivated PTSD, mood disturbance and difficulty adjusting after sustaining SCI. Psychological adjustment treatment enabled resolution of post-trauma symptoms, re-evaluation of appraisals and perceived loss of identity, and development of positive coping strategies, and promoted a new conceptualisation of independence. DISCUSSION: Case studies of psychological treatment are rare within the SCI literature. This paper provides a detailed application of primary appraisals and coping strategy selection fit in individual therapy. Attention is drawn to the important impact appraisals have on long-term rehabilitation outcomes and the necessity of a multi-disciplinary team (MDT) approach to achieve optimal psychological and physical adjustment following SCI. Finally, the paper highlights the need for community education to reduce negative perceptions/taboo of disability.


Assuntos
Pessoas com Deficiência , Traumatismos da Medula Espinal , Adaptação Psicológica , Idoso , Feminino , Humanos , Qualidade de Vida , Inquéritos e Questionários
7.
Epidemiol Infect ; 138(7): 941-50, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20412610

RESUMO

The dramatic decline of the native red squirrel in the UK has been attributed to both direct and disease-mediated competition with the grey squirrel where the competitor acts as a reservoir host of squirrelpox virus (SQPV). SQPV is threatening red squirrel conservation efforts, yet little is known about its epidemiology. We analysed seroprevalence of antibody against SQPV in grey squirrels from northern England and the Scottish Borders in relation to season, weather, sex, and body weight using Generalized Linear Models in conjunction with Structural Equation Modelling. Results indicated a heterogeneous prevalence pattern which is male-biased, increases with weight and varies seasonally. Seroprevalence rose during the autumn and peaked in spring. Weather parameters had an indirect effect on SQPV antibody status. Our findings point towards a direct disease transmission route, which includes environmental contamination. Red squirrel conservation management options should therefore seek to minimize squirrel contact points.


Assuntos
Parapoxvirus , Infecções por Poxviridae/veterinária , Doenças dos Roedores/epidemiologia , Sciuridae/virologia , Animais , Peso Corporal , Inglaterra/epidemiologia , Feminino , Masculino , Vigilância da População , Infecções por Poxviridae/epidemiologia , Escócia/epidemiologia , Estações do Ano , Fatores Sexuais , Tempo (Meteorologia)
8.
Contemp Nurse ; 56(4): 297-308, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32799620

RESUMO

Nurses and midwives of Australia now is the time for change! As powerfully placed, Indigenous and non-Indigenous nursing and midwifery professionals, together we can ensure an effective and robust Indigenous curriculum in our nursing and midwifery schools of education. Today, Australia finds itself in a shifting tide of social change, where the voices for better and safer health care ring out loud. Voices for justice, equity and equality reverberate across our cities, our streets, homes, and institutions of learning. It is a call for new songlines of reform. The need to embed meaningful Indigenous health curricula is stronger now than it ever was for Australian nursing and midwifery. It is essential that nursing and midwifery leadership continue to build an authentic collaborative environment for Indigenous curriculum development. Bipartisan alliance is imperative for all academic staff to be confident in their teaching and learning experiences with Indigenous health syllabus. This paper is a call out. Now is the time for Indigenous and non-Indigenous nurses and midwives to make a stand together, for justice and equity in our teaching, learning, and practice. Together we will dismantle systems, policy, and practices in health that oppress. The Black Lives Matter movement provides us with a 'now window' of accepted dialogue to build a better, culturally safe Australian nursing and midwifery workforce, ensuring that Black Lives Matter in all aspects of health care.


Assuntos
Pessoal Administrativo/psicologia , Negro ou Afro-Americano/psicologia , Assistência à Saúde Culturalmente Competente/organização & administração , Tocologia/educação , Cuidados de Enfermagem/psicologia , Recursos Humanos de Enfermagem Hospitalar/psicologia , Racismo/prevenção & controle , Estudantes de Enfermagem/psicologia , Adulto , Austrália , Currículo , Bacharelado em Enfermagem , Feminino , Humanos , Liderança , Masculino , Pessoa de Meia-Idade , Recursos Humanos de Enfermagem Hospitalar/educação , Gravidez , Racismo/psicologia
9.
J Microsc ; 233(3): 423-31, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19250463

RESUMO

Grain boundary engineering has been proposed to increase the lifetime performance of sensitized austenitic stainless steel in aggressive environments. Increased microstructure resistance is typically associated with higher fractions of twin (Sigma3) grain boundaries, but there is uncertainty about the properties and role of other boundaries. To develop predictive models for stress corrosion crack nucleation, more information is required about how grain boundary crystallography and the orientations of the grain boundary plane and its surrounding grains affect crack development. Digital image correlation combined with electron backscatter diffraction has been used to characterize the microstructure and to observe, in situ, the nucleation and propagation of short stress corrosion cracks in thermo-mechanically processed type 304 stainless steel. The crack path and its growth rate have been determined and are found to be influenced by the microstructure.

11.
J Phys Chem A ; 113(40): 10795-802, 2009 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-19757785

RESUMO

The work of Noid et al. [ J. Chem. Phys. 1977 , 67 , 404 ] has shown that sharp molecular spectra can be obtained through a Fourier transform of the autocorrelation function of a classical trajectory. In the present work, we extend this idea to obtain a spectrum by Fourier transform of the dipole moment function of collision product trajectories. We show that this "classical collision spectrum" (CCS) is related to the cross section for creating the product times an Einstein A factor. As a test case, we analyze product CO trajectories obtained from O + CO collisions at 8 km/s and focus on the spectral resolution of the CCS. The CCS of these trajectories shows rich quantum-like features, including well-separated vibrational overtones and rotational band heads, which become more pronounced with particular trajectory weighting methods. For polyatomic cases, the hope is that the CCS can be deconvolved into ro-vibrational specific probabilities and cross sections for quasi-periodic trajectories, which would otherwise overlap in a conventional classical trajectory energy analysis. Chaotic trajectories are expected to broaden and decrease the achievable resolution of the CCS. Chaotic motion will therefore impact the ability to separate ro-vibrational specific cross sections, an issue that will be addressed in future work.

12.
Rev Med Suisse ; 5(230): 2574-7, 2009 Dec 16.
Artigo em Francês | MEDLINE | ID: mdl-20085207

RESUMO

In order to prevent adjacent segment degeneration following spinal fusion new techniques are being used. Lumbar disc arthroplasty yields mid term results equivalent to those of spinal fusion. Cervical disc arthroplasty is indicated in the treatment of cervicobrachialgia with encouraging initial results. The ability of arthroplasty to prevent adjacent segment degeneration has yet to be proven. Although dynamic stabilization had not been proven effective in treating chronic low back pain, it might be useful following decompression of lumbar spinal stenosis in degenerative spondylolisthesis. Interspinal devices are useful in mild lumbar spinal stenosis but their efficacy in treating low back pain is yet to be proven. Confronted with a growing number of new technologies clinicians should remain critical while awaiting long term results.


Assuntos
Coluna Vertebral/cirurgia , Humanos , Procedimentos Ortopédicos/métodos
13.
Vet Rec ; 184(17): 520-521, 2019 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-31023947

RESUMO

The need for wildlife surveillance is as great now as it ever has been. Here, members of the APHA's Diseases of Wildlife Scheme explain why their work is important.


Assuntos
Doenças dos Animais/epidemiologia , Animais Selvagens , Monitoramento Epidemiológico/veterinária , Animais , Reino Unido/epidemiologia
14.
J Wildl Dis ; 55(4): 908-911, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31081737

RESUMO

Most reports of neoplasia in bats are in captive Egyptian fruit bats (Rousettus aegyptiacus), a megachiropteran species. Only three reports of neoplasia in microchiropteran species have been reported. We report the detection of a tumor in a wild brown long-eared bat (Plecotus auritus), a microchiropteran species, in England. Histolopathology indicated the mass was a spindle cell tumor, likely of smooth muscle origin, which was confirmed by immunohistochemistry.


Assuntos
Quirópteros , Leiomiossarcoma/veterinária , Animais , Feminino , Leiomiossarcoma/patologia
15.
J Wildl Dis ; 55(1): 3-43, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30284963

RESUMO

Many infectious diseases originating from, or carried by, wildlife affect wildlife conservation and biodiversity, livestock health, or human health. We provide an update on changes in the epidemiology of 25 selected infectious, wildlife-related diseases in Europe (from 2010-16) that had an impact, or may have a future impact, on the health of wildlife, livestock, and humans. These pathogens were selected based on their: 1) identification in recent Europe-wide projects as important surveillance targets, 2) inclusion in European Union legislation as pathogens requiring obligatory surveillance, 3) presence in recent literature on wildlife-related diseases in Europe since 2010, 4) inclusion in key pathogen lists released by the Office International des Epizooties, 5) identification in conference presentations and informal discussions on a group email list by a European network of wildlife disease scientists from the European Wildlife Disease Association, or 6) identification as pathogens with changes in their epidemiology during 2010-16. The wildlife pathogens or diseases included in this review are: avian influenza virus, seal influenza virus, lagoviruses, rabies virus, bat lyssaviruses, filoviruses, canine distemper virus, morbilliviruses in aquatic mammals, bluetongue virus, West Nile virus, hantaviruses, Schmallenberg virus, Crimean-Congo hemorrhagic fever virus, African swine fever virus, amphibian ranavirus, hepatitis E virus, bovine tuberculosis ( Mycobacterium bovis), tularemia ( Francisella tularensis), brucellosis ( Brucella spp.), salmonellosis ( Salmonella spp.), Coxiella burnetii, chytridiomycosis, Echinococcus multilocularis, Leishmania infantum, and chronic wasting disease. Further work is needed to identify all of the key drivers of disease change and emergence, as they appear to be influencing the incidence and spread of these pathogens in Europe. We present a summary of these recent changes during 2010-16 to discuss possible commonalities and drivers of disease change and to identify directions for future work on wildlife-related diseases in Europe. Many of the pathogens are entering Europe from other continents while others are expanding their ranges inside and beyond Europe. Surveillance for these wildlife-related diseases at a continental scale is therefore important for planet-wide assessment, awareness of, and preparedness for the risks they may pose to wildlife, domestic animal, and human health.


Assuntos
Animais Selvagens , Doenças Transmissíveis/veterinária , Animais , Doenças Transmissíveis/epidemiologia , Europa (Continente)/epidemiologia , Humanos , Vigilância da População , Zoonoses
16.
Acta Neurochir (Wien) ; 150(7): 729-31, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18536992

RESUMO

We report a 45-year old woman with a pilomyxoid astrocytoma (PMA) of the cervical spinal cord with a rapid clinical course and fatal outcome. Moreover, two family members of the patient were reported to have brainstem tumours with similar histopathological features. This may be the first report of familial PMAs.


Assuntos
Astrocitoma/genética , Neoplasias da Medula Espinal/genética , Astrocitoma/complicações , Astrocitoma/diagnóstico , Astrocitoma/terapia , Vértebras Cervicais , Evolução Fatal , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Quadriplegia/etiologia , Insuficiência Respiratória/etiologia , Neoplasias da Medula Espinal/complicações , Neoplasias da Medula Espinal/diagnóstico , Neoplasias da Medula Espinal/terapia
17.
Rev Sci Instrum ; 87(11): 11E115, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27910623

RESUMO

Measuring high-frequency fluctuations (above tearing mode frequencies) is important for diagnosing instabilities and transport phenomena. The Madison Symmetric Torus interferometer-polarimeter system has been upgraded to utilize improved planar-diode mixer technology. The new mixers reduce phase noise and allow more sensitive measurements of fluctuations at high frequency. Typical polarimeter rms phase noise values of 0.05°-0.07° are obtained with 400 kHz bandwidth. The low phase noise enables the resolution of fluctuations up to 250 kHz for polarimetry and 600 kHz for interferometry. The importance of probe beam alignment for polarimetry is also verified; previously reported tolerances of ≤0.1 mm displacement for equilibrium and tearing mode measurements minimize contamination due to spatial misalignment to within acceptable levels for chords near the magnetic axis.

20.
Neurol Genet ; 2(6): e110, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27830184

RESUMO

OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c.387C>G, p.Asp129Glu) segregated with the phenotype and was predicted to alter the conserved α-crystallin domain common to small heat shock proteins. At baseline, there was no difference in HSPB1 protein levels nor its binding partner αB-crystallin. Heat shock treatment increased HSPB1 protein levels in both patient-derived and control fibroblasts, but the associated increase in αB-crystallin expression was greater in patient-derived than control fibroblasts. CONCLUSIONS: The HSPB1 variant (c.387C>G, p.Asp129Glu) is the likely cause of distal neuromyopathy in this pedigree with pathogenic effects mediated through binding to its partner heat shock protein αB-crystallin. Mutations in HSBP1 classically cause a motor axonopathy, but this family shows that the distal weakness can be both myopathic and neuropathic. The traditional clinical classification of distal weakness into "myopathic" or "neuropathic" forms may be misleading in some instances, and future treatments need to address the pathology in both tissues.

SELEÇÃO DE REFERÊNCIAS
Detalhe da pesquisa