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Numerous cultural adaptations of the Tampa Scale of Kinesiophobia 11-item version (TSK-11) scale have emerged since the original version was introduced. We conducted a (COnsensus-based Standards for the selection of health Measurement INstruments) COSMIN-informed systematic review of measurement properties to identify the cross-cultural adaptation of the TSK-11 and report, critically appraise, and systematize its measurement properties. Six databases were searched for studies published since 2005. Studies reporting on the measurement properties of culturally adapted versions of the TSK-11, published in English, Portuguese, and Spanish, were considered for inclusion. The results were synthesized by measurement properties and rated against the COSMIN criteria for good measurement properties. The quality of the evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluation approach and presented in a summary of findings table. Twenty-three studies were included, and cultural adaptations for 15 languages were identified: English, Chinese, Cantonese, Swedish, German, Dutch, Arabic, Turkish, Danish, Spanish, Japanese, Brazilian Portuguese, Marathi, Thai, and Persian. There is "high" certainty in the evidence for "sufficient" criterion validity (TSK-17, r = .84) and "insufficient" measurement error (small detectable change range 5.6-6.16). "Moderate" certainty in the evidence for "sufficient" construct validity (87.8% of hypotheses confirmed), test-retest reliability (intraclass correlation coefficient2,1 = .747-.87), and "low" certainty in evidence for "sufficient" responsiveness. The numerous sources of heterogeneity prevent conclusions from being drawn regarding structural validity. Measurement error, responsiveness, and structural validity of the TSK-11 require further investigation. Clinicians should complement the use of TSK-11 with other instruments. Future studies on the structural validity of the questionnaire should standardize the data analysis methods. PERSPECTIVE: This article presents the measurement properties of the cross-cultural adaptations of the TSK-11. Clinicians should be aware that cultural and clinical aspects may influence the structural validity of the questionnaire. Using the TSK-11 as a stand-alone instrument may omit relevant clinical progression in the patient's condition.
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BACKGROUND AND PURPOSE: In light of the fear avoidance model, kinesiophobia and fear avoidance (FA) can lead to physical inactivity and disability. Previous studies regarding kinesiophobia and FA in older adults have reported conflicting results. The purpose of this review was to identify the reported constructs and assessment instruments used in published studies on kinesiophobia and FA in older adults and to verify the alignment between the instruments used and the constructs under study. METHODS: Following the Preferred Reporting Items for Systematic reviews and Meta-Analyses 2020 statement (PRISMA-2020), 4 databases were searched from January 2005 to March 2020. All study types, except qualitative, were eligible for inclusion. The participants were 65 years and older. Studies were excluded in the absence of sufficient data on participant age. Study characteristics, constructs related to kinesiophobia, fear and/or avoidance, and instruments used were extracted independently by 2 reviewers. RESULTS: Fourteen articles were selected for inclusion in the study, in which 7 constructs were identified. The most reported constructs were "fear avoidance beliefs" (FAB) (50%; n = 7), "kinesiophobia" (35.7%; n = 5), and "fear of falling" (14.3%; n = 2). The remaining constructs were only approached, each in 7.1% (n = 1) of the included studies. Seven instruments were used to assess the constructs. The Fear Avoidance Beliefs Questionnaire (FABQ) was the most used instrument (n = 3) to evaluate "FAB," and the Tampa Scale for Kinesiophobia-11 (TSK-11) was the most reported (n = 3) to assess "kinesiophobia." CONCLUSION: This review identified a large diversity in the constructs and instruments used to study kinesiophobia and FA among older adults. Some constructs are used interchangeably although they do not share the same conceptual definition. There is poor standardization in the use of assessment tools in accordance with the construct under study. Clinical evaluation and study results can be biased owing to this ambiguity.
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Dor Lombar , Humanos , Idoso , Psicometria/métodos , Reprodutibilidade dos Testes , Medo , Inquéritos e QuestionáriosRESUMO
A scoping review was performed to examine the extent and nature of research activity on kinesiophobia and fear avoidance in older adults and summarize research findings. Four databases were searched from January 2006 to May 2021. Eleven papers were selected for inclusion, with a predominance of cross-sectional design (54.5%; n = 6). Most of the studies were associated with chronic pain (n = 9; 81.8%). Higher levels of kinesiophobia were found among frailer and older people, predominantly living in care homes. Kinesiophobia and fear avoidance have been related to other constructs of the fear avoidance model, and the conclusions partially support the assumptions derived from it in older adults. Nevertheless, kinesiophobia proved to be a more dominant factor in determining the level of physical activity than pain in this population. None of the studies aimed to test the effectiveness of interventions directly targeting kinesiophobia or fear avoidance.
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Dor Crônica , Medo , Humanos , Idoso , Estudos Transversais , Medição da Dor , Pesquisa , Inquéritos e QuestionáriosRESUMO
A teenage girl had the rare combined phenotype of xeroderma pigmentosum and trichothiodystrophy, resulting from mutations in the XPD (ERCC2) gene involved in nucleotide excision repair (NER). After treatment with antibiotics, including metronidazole for recurrent infections, she showed signs of acute and severe hepatotoxicity, which gradually resolved after withdrawal of the treatment. Cultured skin fibroblasts from the patient revealed cellular sensitivity to killing by metronidazole compared with cells from a range of other donors. This reveals that the metronidazole sensitivity was an intrinsic property of her cells. It is well recognized that patients with Cockayne syndrome, another NER disorder, are at high risk of metronidazole-induced hepatotoxicity, but this had not been reported in individuals with other NER disorders. We would urge extreme caution in the use of metronidazole in the management of individuals with the xeroderma pigmentosum and trichothiodystrophy overlap or trichothiodystrophy phenotypes.
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Antibacterianos/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Metronidazol/efeitos adversos , Síndromes de Tricotiodistrofia/complicações , Xeroderma Pigmentoso/complicações , Adolescente , Feminino , Fibroblastos/efeitos dos fármacos , Humanos , Mutação , Síndromes de Tricotiodistrofia/genética , Xeroderma Pigmentoso/genética , Proteína Grupo D do Xeroderma Pigmentoso/genéticaRESUMO
Introduction: The use of oral appliances to enhance sports performance has been advocated by some authors, however, studies addressing the effectiveness of these strategies are inconclusive. Methods: Here we investigate the effects of dental occlusions on shoulder strength. Fourteen healthy male subjects (age = 21.67 ± 0.86 years) without temporomandibular joint (TMJ) disorder participated in this study. Isokinetic strength was evaluated in shoulder abduction/adduction and arm external/internal rotation tests. Three randomised conditions were assessed: (1) occlusal splint (OS), which repositioned the TMJ in centric relation; (2) placebo splint (PS); and (3) no-splint (N). The strength tests were performed at a speed of 60°/sec in concentric mode. Muscle activity was measured by surface electromyography (EMG) in the main muscles engaged in the movements. Results: Significant differences in peak torque between OS and both of the other experimental conditions were found in some of the analyzed variables. Moreover, there was significantly higher muscular EMG activation in the OS condition when compared to the other conditions for some of the tested muscles. These data suggest that splints may have a positive ergogenic effect on shoulder muscular strength in healthy male subjects. Conclusion: OS may provide an advantage for healthy subjects engaged in sports whereby shoulder and arm strength are important for performance. Key messages Occlusal splints in centric relation position have an ergogenic effect, by increasing strength and muscle activation on shoulder in healthy subjects. These results could have implications for sports or other physical activities were arm and shoulder strength are important.
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Contração Isométrica/fisiologia , Força Muscular/fisiologia , Músculo Esquelético/fisiologia , Placas Oclusais , Manguito Rotador/fisiologia , Articulação do Ombro/fisiologia , Eletromiografia , Voluntários Saudáveis , Humanos , Masculino , Amplitude de Movimento Articular/fisiologia , Adulto JovemRESUMO
There are limited reports of radiologically confirmed fractures and bone health monitoring in with Duchenne muscular dystrophy. We performed a retrospective study of 91 boys, with a median age of 11.0 years, who are currently managed in Scotland with the aim to assess the frequency of radiologically confirmed fractures and report on bone health monitoring in relation to International Care Consensus Guidance. Of these boys, 59 (65%) were receiving glucocorticoid (GC) therapy and 23 (25%) had received previous treatment. Of those currently on GC, 37 (63%) had an assessment of bone mineral density and none had routine imaging for vertebral fractures during the study period. Of the 91 boys, 44 (48%) had sustained at least one symptomatic radiographically confirmed fracture. The probability of sustaining a first symptomatic fracture was 50% by 12.8 years old (95%CI: 12.1, 13.6). The most common sites for non-vertebral fracture were the femur and tibia. In this review of boys with DMD, almost half had sustained at least one radiologically confirmed symptomatic fracture. There is a need for standardized bone health monitoring in DMD that includes routine imaging of the spine to identify vertebral fractures, given the persistence of insult to the skeleton in these boys.
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Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/terapia , Distrofia Muscular de Duchenne/diagnóstico por imagem , Distrofia Muscular de Duchenne/terapia , Adolescente , Densidade Óssea/efeitos dos fármacos , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/efeitos dos fármacos , Criança , Fraturas Ósseas/complicações , Fraturas Ósseas/epidemiologia , Glucocorticoides/efeitos adversos , Glucocorticoides/uso terapêutico , Humanos , Masculino , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/epidemiologia , Estudos Retrospectivos , EscóciaAssuntos
Imunossupressores/uso terapêutico , Helicase IFIH1 Induzida por Interferon/genética , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Mutação/genética , Doenças do Sistema Nervoso/tratamento farmacológico , Pirazóis/uso terapêutico , Alopecia , Anticorpos Antinucleares/sangue , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Interferon Tipo I/genética , Janus Quinase 1/antagonistas & inibidores , Janus Quinase 2/antagonistas & inibidores , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/genética , Transtornos Motores , Neopterina/líquido cefalorraquidiano , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Nitrilas , Pirazóis/farmacologia , Pirimidinas , Regulação para CimaRESUMO
[This corrects the article DOI: 10.1371/journal.pone.0197627.].
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The hydrography and dynamics of NW Iberian margin were explored for July 2009, based on a set of in situ and remote sensing observations. Zonal sections of standard CTD casts, towed CTD (SeaSoar), Acoustic Doppler Current Profilers (ADCP) and Lagrangian surveys were made to characterize cycles of upwelling and relaxation in this region. Two periods of northerly winds, bounded by relaxation periods, were responsible for the formation of an upwelling front extending to the shelf edge. An equatorward flow was quickly set up on the shelf responding to the northerly wind pulses. South of Cape Silleiro, the development and subsequent relaxation of an upwelling event was intensively surveyed in the shelf, following a Lagrangian drifter transported by the upwelling jet. This region is part of an upwelling center extending from Cape Silleiro to Porto, where the surface temperature was colder than the neighboring regions, under upwelling favorable winds. As these winds relaxed, persistent poleward flow developed, originating south of the upwelling center and consisting in an inner-shelf tongue of warm waters. During an event of strong southerly wind, the poleward flow was observed to extend to the whole continental shelf. Although the cruise was executed during summertime, the presence of river-plumes was observed over the shelf. The interaction of the plumes with the circulation on the shelf was also described in terms of coastal convergence and offshore advection. The sampling of the offshore and slope regions showed the presence of the Iberian poleward current offshore and a persistent equatorward flow over the upper slope.
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Movimentos da Água , Oceano Atlântico , Periodicidade , Estações do Ano , Água do Mar , Temperatura , VentoAssuntos
Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/imunologia , RNA Helicases DEAD-box/genética , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/imunologia , Neuromielite Óptica/genética , Neuromielite Óptica/imunologia , Aquaporina 4/imunologia , Autoanticorpos/sangue , Autoanticorpos/líquido cefalorraquidiano , Doenças Autoimunes do Sistema Nervoso/complicações , Criança , Feminino , Humanos , Helicase IFIH1 Induzida por Interferon , Mutação , Malformações do Sistema Nervoso/complicações , Neuromielite Óptica/sangue , Neuromielite Óptica/líquido cefalorraquidiano , Neuromielite Óptica/complicaçõesRESUMO
Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures. PP2A comprises catalytic (C), scaffolding (A), and regulatory (B) subunits that determine subcellular anchoring, substrate specificity, and physiological function. Ten patients had mutations within a highly conserved acidic loop of the PPP2R5D-encoded B56δ regulatory subunit, with the same E198K mutation present in 6 individuals. Five patients had mutations in the PPP2R1A-encoded scaffolding Aα subunit, with the same R182W mutation in 3 individuals. Some Aα cases presented with large ventricles, causing macrocephaly and hydrocephalus suspicion, and all cases exhibited partial or complete corpus callosum agenesis. Functional evaluation revealed that mutant A and B subunits were stable and uncoupled from phosphatase activity. Mutant B56δ was A and C binding-deficient, while mutant Aα subunits bound B56δ well but were unable to bind C or bound a catalytically impaired C, suggesting a dominant-negative effect where mutant subunits hinder dephosphorylation of B56δ-anchored substrates. Moreover, mutant subunit overexpression resulted in hyperphosphorylation of GSK3ß, a B56δ-regulated substrate. This effect was in line with clinical observations, supporting a correlation between the ID degree and biochemical disturbance.
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Agenesia do Corpo Caloso , Corpo Caloso , Transtornos Mentais , Mutação de Sentido Incorreto , Proteína Fosfatase 2 , Adolescente , Adulto , Agenesia do Corpo Caloso/enzimologia , Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/patologia , Substituição de Aminoácidos , Criança , Pré-Escolar , Corpo Caloso/enzimologia , Corpo Caloso/patologia , Feminino , Quinase 3 da Glicogênio Sintase/genética , Quinase 3 da Glicogênio Sintase/metabolismo , Glicogênio Sintase Quinase 3 beta , Humanos , Lactente , Masculino , Transtornos Mentais/enzimologia , Transtornos Mentais/genética , Transtornos Mentais/patologia , Pessoa de Meia-Idade , Fosforilação/genética , Proteína Fosfatase 2/genética , Proteína Fosfatase 2/metabolismo , Estrutura Secundária de Proteína , Estrutura Terciária de ProteínaRESUMO
This study aimed to develop a valid and reliable scale to assess the perception of stretching intensity below and above the maximal range of motion. Experiments were conducted through a passive leg extension angle-torque assessment to healthy population (n = 90). In the study's first phase, the visual, numerical, and description of the stretching intensity scale (SIS) components were developed. The visual analog scale (VAS) score, absolute magnitude estimation (AME) score, and verbal stretching intensity symptom descriptors were assessed for different stretching intensities. In the second phase, the SIS was tested for validity, reliability, scale production, and estimation properties as well as responsiveness to stretching. In the first phase, a high correlation was found between SIS score and range of motion (ROM), as well as SIS and torque in both submaximal (intraclass correlation coefficient [ICC] = 0.89-0.99, r = 0.88-0.99) and supramaximal (ICC = 0.75-0.86, r = 0.68-0.88) stretching intensities. The AME and VAS scores fitted well in an exponential model for submaximal stretching intensities (y = 14.829e, ICC = 0.97 [0.83-0.99], r = 0.98), and in a linear model for supramaximal stretching intensities (y = 0.7667x - 25.751, ICC = 0.97 [0.89-0.99], r = 0.9594). For the second phase, a high correlation was found between SIS score and ROM (r = 0.70-0.76, ICC = 0.76-0.85), as well as SIS and torque (r = 0.62-0.88, ICC = 0.57-0.85). The interday reliability was high to produce (r = 0.70, ICC = 0.70 [0.50-0.83]) or estimate (r = 0.89, ICC = 0.89 [0.82-0.93]) stretching intensities. The acute stretching effects on ROM and passive torque were detectable using the SIS. It is expected a high application in assessing the stretch intensity using the SIS in future studies and practical interventions.
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Exercícios de Alongamento Muscular , Adulto , Eletromiografia , Humanos , Masculino , Músculo Esquelético/fisiologia , Amplitude de Movimento Articular/fisiologia , Reprodutibilidade dos Testes , Escala Visual Analógica , Adulto JovemRESUMO
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials.
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Adenosina Desaminase/genética , Doenças Autoimunes do Sistema Nervoso/diagnóstico , Doenças Autoimunes do Sistema Nervoso/genética , RNA Helicases DEAD-box/genética , Exodesoxirribonucleases/genética , Proteínas Monoméricas de Ligação ao GTP/genética , Mutação , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Fenótipo , Fosfoproteínas/genética , Ribonuclease H/genética , Estudos de Associação Genética , Genótipo , Humanos , Helicase IFIH1 Induzida por Interferon , Interferons/sangue , Interferons/líquido cefalorraquidiano , Pterinas/líquido cefalorraquidiano , Proteína 1 com Domínio SAM e Domínio HDRESUMO
PURPOSE: The instep soccer kick is a pre-programmed ballistic movement with a typical agonist-antagonist coordination pattern. The coordination pattern of the kick can provide insight into deficient neuromuscular control. The purpose of this study was to investigate knee kinematics and hamstrings/quadriceps coordination pattern during the knee ballistic extension phase of the instep kick in soccer players after anterior cruciate ligament reconstruction (ACL reconstruction). METHODS: Seventeen players from the Portuguese Soccer League participated in this study. Eight ACL-reconstructed athletes (experimental group) and 9 healthy individuals (control group) performed three instep kicks. Knee kinematics (flexion and extension angles at football contact and maximum velocity instants) were calculated during the kicks. Rectus femoris (RF), vastus lateralis, vastus medialis, biceps femoralis, and semitendinosus muscle activations were quantified during the knee extension phase. RESULTS: The ACL-reconstructed group had significantly lower knee extension angle (-1.2 ± 1.6, p < 0.021) and increased variability (1.1 ± 1.2, p < 0.012) when compared with the control group. Within the EMG variables, the RF had a significantly greater activity in the ACL-reconstructed group than in the control group (79.9 ± 27.7 % MVC vs. 49.2 ± 20.8 % MVC, respectively, p < 0.034). No other statistically significant differences were found. CONCLUSIONS: The findings of this study demonstrate that changes in ACL-reconstructed individuals were observed on knee extension angle and RF muscle activation while performing an instep kick. These findings are in accordance with the knee stability recovery process after ACL reconstruction. No differences were observed in the ballistic control movement pattern between normal and ACL-reconstructed subjects. Performing open kinetic chain exercises using ballistic movements can be beneficial when recovering from ACL reconstruction. The exercises should focus on achieving multi-joint coordination and full knee extension (range of motion). LEVEL OF EVIDENCE: III.
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Reconstrução do Ligamento Cruzado Anterior , Atletas , Traumatismos do Joelho/cirurgia , Articulação do Joelho/fisiopatologia , Músculo Esquelético/fisiopatologia , Amplitude de Movimento Articular , Recuperação de Função Fisiológica/fisiologia , Futebol/lesões , Adulto , Fenômenos Biomecânicos , Humanos , Traumatismos do Joelho/fisiopatologia , Articulação do Joelho/cirurgia , Masculino , Adulto JovemRESUMO
BACKGROUND: Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined. METHODS: We identified a series of patients with a phenotype of nonsyndromic spastic paraplegia in whom no diagnosis had been reached before exome sequencing. We measured the expression of interferon stimulated genes (ISGs) in peripheral blood from these patients. RESULTS: Five patients from four families with previously unexplained spastic paraplegia were identified with mutations in either ADAR1 (one patient), IFIH1 (one patient), or RNASEH2B (three patients from two families). All patients were developmentally normal before the onset of features beginning in the second year of life. All patients remain of normal intellect. Four patients demonstrated normal neuroimaging, while a single patient had features of nonspecific dysmyelination. The patients with ADAR1 and IFIH1-related disease showed a robust interferon signature. The patients with mutations in RNASEH2B demonstrated no (two patients) or a minimal (one patient) upregulation of ISGs compared with controls. CONCLUSIONS: Mutations in ADAR1, IFIH1, and RNASEH2B can cause a phenotype of spastic paraplegia with normal neuroimaging, or in association with nonspecific dysmyelination. Although the presence of an interferon signature can be helpful in interpreting the significance of gene variants in this context, patients with pathogenic mutations in RNASEH2B may demonstrate no upregulation of ISGs in peripheral blood. However, it remains possible that type I interferons act as a neurotoxin in the context of all genotypes.
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Adenosina Desaminase/genética , RNA Helicases DEAD-box/genética , Mutação , Proteínas de Ligação a RNA/genética , Ribonuclease H/genética , Paraplegia Espástica Hereditária/genética , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Interferon Tipo I/metabolismo , Helicase IFIH1 Induzida por Interferon , Masculino , Irmãos , Paraplegia Espástica Hereditária/sangueRESUMO
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome and of other undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer gain of function such that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.
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Doenças Autoimunes do Sistema Nervoso/genética , RNA Helicases DEAD-box/genética , Interferon Tipo I/imunologia , Modelos Moleculares , Mutação/genética , Malformações do Sistema Nervoso/genética , Fenótipo , Transdução de Sinais/genética , Análise de Variância , Doenças Autoimunes do Sistema Nervoso/imunologia , Sequência de Bases , RNA Helicases DEAD-box/química , Ensaio de Desvio de Mobilidade Eletroforética , Exoma/genética , Células HEK293 , Humanos , Helicase IFIH1 Induzida por Interferon , Repetições de Microssatélites/genética , Dados de Sequência Molecular , Malformações do Sistema Nervoso/imunologia , Reação em Cadeia da Polimerase em Tempo Real , Análise de Sequência de DNA , Análise EspectralRESUMO
There is a growing interest on physical and biogeochemical oceanic hindcasts and forecasts from a wide range of users and businesses. In this contribution we present an operational biogeochemical forecast system for the Portuguese and Galician oceanographic regions, where atmospheric, hydrodynamic and biogeochemical variables are integrated. The ocean model ROMS, with a horizontal resolution of 3 km, is forced by the atmospheric model WRF and includes a Nutrients-Phytoplankton-Zooplankton-Detritus biogeochemical module (NPZD). In addition to oceanographic variables, the system predicts the concentration of nitrate, phytoplankton, zooplankton and detritus (mmol N m(-3)). Model results are compared against radar currents and remote sensed SST and chlorophyll. Quantitative skill assessment during a summer upwelling period shows that our modelling system adequately represents the surface circulation over the shelf including the observed spatial variability and trends of temperature and chlorophyll concentration. Additionally, the skill assessment also shows some deficiencies like the overestimation of upwelling circulation and consequently, of the duration and intensity of the phytoplankton blooms. These and other departures from the observations are discussed, their origins identified and future improvements suggested. The forecast system is the first of its kind in the region and provides free online distribution of model input and output, as well as comparisons of model results with satellite imagery for qualitative operational assessment of model skill.
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Ecossistema , Modelos Teóricos , Oceano Atlântico , Atmosfera/química , Clorofila/metabolismo , Oceanografia , Fitoplâncton/crescimento & desenvolvimento , VentoRESUMO
Neurofibromatosis type 2 (NF2) remains a challenging diagnosis in childhood where there may be no neurological involvement. A 12-month-old male in whom NF2 was suspected because of characteristic ophthalmological and cutaneous lesions is reported. Cranial MRI showed no tumours. A pathogenic mutation was identified on NF2 gene analysis. The child developed hypertension due to renal vascular disease. Although renal vascular disease is a recognized complication of neurofibromatosis type 1 (NF1), it has not been reported in NF2.