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1.
Psychiatry Res ; 305: 114211, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34601449

RESUMO

A major problem with longitudinal studies is the bias generated due to attrition, particularly apparent amongst patients suffering from psychotic disorders. Factors associated with study-participation were investigated as part of a larger research collaboration (STRATA). Out of 479 eligible participants, only 50 (10,4%) were successfully followed up. The present study investigated whether study participation differed depending on baseline characteristics. Results indicated that individuals who did not participate were more likely to report an alcohol use disorder while those who did respond were more likely to have been in full-time education for longer and be of white ethnicity. Participation did not differ depending on diagnosis, symptoms, GAF, age of onset or depression.


Assuntos
Transtornos Psicóticos , Esquizofrenia , Viés , Humanos , Estudos Longitudinais , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/epidemiologia , Esquizofrenia/diagnóstico
2.
PLoS One ; 15(11): e0228528, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33253190

RESUMO

Ecosystem effects of bottom trawl fisheries are of major concern. Although it is prohibited to catch fish using electricity in European Union waters, a number of beam trawlers obtained a derogation and switched to pulse trawling to explore the potential to reduce impacts. Here we analyse whether using electrical rather than mechanical stimulation results in an overall reduction in physical disturbance of the seafloor in the beam-trawl fishery for sole Solea solea. We extend and apply a recently developed assessment framework to the Dutch beam-trawl fleet and show that the switch to pulse trawling substantially reduced benthic impacts when exploiting the total allowable catch of sole in the North Sea. Using Vessel Monitoring by Satellite and logbook data from 2009 to 2017, we estimate that the trawling footprint decreased by 23%, the precautionary impact indicator of the benthic community decreased by 39%, the impact on median longevity of the benthic community decreased by 20%, the impact on benthic biomass decreased by 61%, and the amount of sediment mobilised decreased by 39%. The decrease in impact is due to the replacement of tickler chains by electrode arrays, a lower towing speed and higher catch efficiency for sole. The effort and benthic physical disturbance of the beam-trawl fishery targeting plaice Pleuronectes platessa in the central North Sea increased with the recovery of the plaice stock. Our study illustrates the utility of a standardized methodological framework to assess the differences in time trends and physical disturbance between gears.


Assuntos
Conservação dos Recursos Naturais/métodos , Ecossistema , Pesqueiros/normas , Peixes/fisiologia , Dinâmica Populacional , Animais , Estimulação Elétrica , Oceanos e Mares , Estimulação Física
3.
Trials ; 21(1): 711, 2020 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-32787910

RESUMO

BACKGROUND: A core outcome set (COS) represents the agreed minimum set of domains and measurement instruments that should be measured and reported in any clinical trial for a given condition. In BMS randomized controlled trials (RCTs), the outcomes identified in the existing literature regarding the efficacy of therapeutic interventions are numerous and diverse. Although the standardized IMMPACT core outcome domains has been developed for measurement of outcomes in chronic pain RCTs, no BMS-specific COS have been adopted and validated. With the evolving landscape of BMS management end points and the development of new therapies, a consensus on a COS for use in future BMS trials is paramount to reduce heterogeneity in outcome reporting. The aim of this study was to reach a consensus for adopting the standardized Initiative on Methods, Measurement, and Pain Assessment in Clinical Trials (IMMPACT) outcome domains, and their tools of assessment, for burning mouth syndrome (BMS) clinical trials and clinical practice. METHODS: A BMS-specific COS will be developed using the method recommended by the Core Outcome Measures in Effective Trials (COMET) initiative (Registration: http://www.comet-initiative.org/studies/details/1357 ). Selection of questionnaire outcome measures was informed by the IMMPACT consensus and previous systematic review of RCTs in BMS conducted by the consortium. An international group of clinicians and researchers will be invited to participate in several rounds of a Delphi survey. A consensus meeting will be held with the objective of ratifying the outcomes for inclusion in the COS. A finalized COS explanatory document will be drafted, including all outcomes and measurements as determined by the Delphi rounds and consensus meeting. DISCUSSION: A COS for the management of BMS will improve the quality of future RCTs, reduce outcome reporting heterogeneity, and facilitate more vigorous data synthesis of management interventions for systematic reviews and meta-analysis. This would ensure enhanced quality evidence for clinical management of the condition.


Assuntos
Síndrome da Ardência Bucal , Projetos de Pesquisa , Síndrome da Ardência Bucal/diagnóstico , Síndrome da Ardência Bucal/terapia , Técnica Delphi , Determinação de Ponto Final , Humanos , Metanálise como Assunto , Avaliação de Resultados em Cuidados de Saúde , Ensaios Clínicos Controlados Aleatórios como Assunto , Inquéritos e Questionários , Revisões Sistemáticas como Assunto , Resultado do Tratamento
4.
Schizophr Bull ; 44(suppl_2): S460-S467, 2018 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-29788473

RESUMO

The latent structure of schizotypy and psychosis-spectrum symptoms remains poorly understood. Furthermore, molecular genetic substrates are poorly defined, largely due to the substantial resources required to collect rich phenotypic data across diverse populations. Sample sizes of phenotypic studies are often insufficient for advanced structural equation modeling approaches. In the last 50 years, efforts in both psychiatry and psychological science have moved toward (1) a dimensional model of psychopathology (eg, the current Hierarchical Taxonomy of Psychopathology [HiTOP] initiative), (2) an integration of methods and measures across traits and units of analysis (eg, the RDoC initiative), and (3) powerful, impactful study designs maximizing sample size to detect subtle genomic variation relating to complex traits (the Psychiatric Genomics Consortium [PGC]). These movements are important to the future study of the psychosis spectrum, and to resolving heterogeneity with respect to instrument and population. The International Consortium of Schizotypy Research is composed of over 40 laboratories in 12 countries, and to date, members have compiled a body of schizotypy- and psychosis-related phenotype data from more than 30000 individuals. It has become apparent that compiling data into a protected, relational database and crowdsourcing analytic and data science expertise will result in significant enhancement of current research on the structure and biological substrates of the psychosis spectrum. The authors present a data-sharing infrastructure similar to that of the PGC, and a resource-sharing infrastructure similar to that of HiTOP. This report details the rationale and benefits of the phenotypic data collective and presents an open invitation for participation.


Assuntos
Conjuntos de Dados como Assunto , Modelos Teóricos , Transtornos Psicóticos/classificação , Esquizofrenia/classificação , Transtorno da Personalidade Esquizotípica/classificação , Humanos , Disseminação de Informação , Colaboração Intersetorial
5.
Psychiatry Res ; 252: 154-160, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28273630

RESUMO

It is not only unclear why hallucinations in schizophrenia occur with different prevalence by modality, but also to what extent they do. Reliable prevalence estimates of hallucinations by modality in schizophrenia are currently lacking, particularly for non-auditory hallucinations. Studies have also tended to report lifetime, not point prevalence by modality. This study assessed the prevalence and co-occurrence of hallucinations, for both lifetime and point prevalence, across the auditory, visual, olfactory, and tactile modalities, in people diagnosed with chronic schizophrenia-spectrum disorders in Ireland (N=693) and Australia (N=218). Lifetime prevalence was 64-80% auditory, 23-31% visual, 9-19% tactile, and 6-10% olfactory. Past month prevalence was 23-27% auditory, 5-8% visual, 4-7% tactile, and 2% olfactory. The majority of participants had only hallucinated in one modality, with this nearly always being the auditory. Approximately one-third had hallucinated in two modalities, most commonly the auditory and visual. Most currently hallucinating patients also hallucinated in a single modality, again, nearly always the auditory. Whereas 30-37% of patients with lifetime auditory hallucinations had experienced visual hallucinations, 83-97% of patients with experience of visual hallucinations had experienced auditory hallucinations. These findings help delineate the modality distribution of hallucinations in schizophrenia, and provide an explanatory target for theoretical models.


Assuntos
Alucinações/epidemiologia , Alucinações/psicologia , Percepção , Esquizofrenia/epidemiologia , Psicologia do Esquizofrênico , Adulto , Percepção Auditiva , Austrália/epidemiologia , Comorbidade , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Percepção Olfatória , Prevalência , Percepção do Tato , Percepção Visual
6.
Artigo em Inglês | MEDLINE | ID: mdl-27579048

RESUMO

This study evaluated membrane stabilization and detoxification potential of ethyl acetate fraction of Zea mays L., Stigma maydis in acetaminophen-induced oxidative onslaughts in the kidneys of Wistar rats. Nephrotoxic rats were orally pre- and posttreated with the fraction and vitamin C for 14 days. Kidney function, antioxidative and histological analyses were thereafter evaluated. The acetaminophen-mediated significant elevations in the serum concentrations of creatinine, urea, uric acid, sodium, potassium, and tissue levels of oxidized glutathione, protein-oxidized products, lipid peroxidized products, and fragmented DNA were dose-dependently assuaged in the fraction-treated animals. The fraction also markedly improved creatinine clearance rate, glutathione, and calcium concentrations as well as activities of superoxide dismutase, catalase, glutathione reductase, and glutathione peroxidase in the nephrotoxic rats. These improvements may be attributed to the antioxidative and membrane stabilization activities of the fraction. The observed effects compared favorably with that of vitamin C and are informative of the fraction's ability to prevent progression of renal pathological conditions and preserve kidney functions as evidently supported by the histological analysis. Although the effects were prominently exhibited in the fraction-pretreated groups, the overall data from the present findings suggest that the fraction could prevent or extenuate acetaminophen-mediated oxidative renal damage via fortification of antioxidant defense mechanisms.

7.
J Ethnopharmacol ; 183: 1-8, 2016 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-26902829

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: Corn silk (Zea mays L., Stigma maydis) is an important herb used traditionally in many parts of the world to treat array of diseases including diabetes mellitus. Inhibitors of α-amylase and α-glucosidase offer an effective strategy to modulate levels of post prandial hyperglycaemia via control of starch metabolism. AIM OF THE STUDY: This study evaluated α-amylase and α-glucosidase inhibitory potentials of corn silk aqueous extract. Active principles and antioxidant attributes of the extract were also analysed. MATERIALS AND METHODS: The α-amylase inhibitory potential of the extract was investigated by reacting its different concentrations with α-amylase and starch solution, while α-glucosidase inhibition was determined by pre-incubating α-glucosidase with different concentrations of the extract followed by addition of p-nitrophenylglucopyranoside. The mode(s) of inhibition of the enzymes were determined using Lineweaver-Burke plot. RESULTS: In vitro analysis of the extract showed that it exhibited potent and moderate inhibitory potential against α-amylase and α-glucosidase, respectively. The inhibition was concentration-dependent with respective half-maximal inhibitory concentration (IC50) values of 5.89 and 0.93mg/mL. Phytochemical analyses revealed the presence of alkaloids, flavonoids, phenols, saponins, tannins and phytosterols as probable inhibitory constituents. Furthermore, the extract remarkably scavenges reactive oxygen species like DPPH and nitric oxide radicals, elicited good reducing power and a significant metal chelating attributes. CONCLUSION: Overall, the non-competitive and uncompetitive mechanism of action of corn silk extract is due to its inhibitory effects on α-amylase and α-glucosidase, respectively. Consequently, this will reduce the rate of starch hydrolysis, enhance palliated glucose levels, and thus, lending credence to hypoglycaemic candidature of corn silk.


Assuntos
Inibidores de Glicosídeo Hidrolases/química , Inibidores de Glicosídeo Hidrolases/farmacologia , Extratos Vegetais/química , Poaceae/química , Zea mays/química , alfa-Amilases/antagonistas & inibidores , alfa-Glucosidases/metabolismo , Alcaloides/química , Antioxidantes/química , Antioxidantes/farmacologia , Flavonoides/química , Hiperglicemia/tratamento farmacológico , Hipoglicemiantes/química , Hipoglicemiantes/farmacologia , Cinética , Óxido Nítrico/metabolismo , Fenóis/química , Fitosteróis/química , Extratos Vegetais/farmacologia , Espécies Reativas de Oxigênio/metabolismo , Saponinas/química , Taninos/química
8.
Clin Oncol (R Coll Radiol) ; 27(8): 445-53, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25971646

RESUMO

1p19q co-deletion is a chromosomal alteration associated with primary brain tumours of oligodendroglial histology. It is an established predictive and prognostic biomarker that informs whether patients are offered radiotherapy, chemotherapy or both. In the near future, 1p19q co-deletion status may also be incorporated into the reclassification of gliomas. Analysis is commonly carried out using fluorescence in situ hybridisation (FISH) because it is a reliable and validated laboratory technique. The result is generally considered to be dichotomous (1p19q co-deletion present or absent), but there are subtleties in interpretation that are of clinical relevance. Separate centres may interpret certain chromosome deletion patterns differently. Pivotal trials in mixed and pure anaplastic oligodendrogliomas have used slightly different FISH probe ratios as the cut-off for chromosome deletion. Here we review the clinical implications of this variability and review the process of 1p19q co-deletion assessment using FISH in gliomas from a clinician's perspective. We also consider common alternative methods of analysis.


Assuntos
Neoplasias Encefálicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 19/genética , Cromossomos Humanos Par 1/genética , Glioma/genética , Hibridização in Situ Fluorescente/métodos , Neoplasias Encefálicas/terapia , Glioma/terapia , Humanos , Prognóstico
9.
Schizophr Res ; 164(1-3): 181-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25778617

RESUMO

Empirically derived phenotypic measurements have the potential to enhance gene-finding efforts in schizophrenia. Previous research based on factor analyses of symptoms has typically included schizoaffective cases. Deriving factor loadings from analysis of only narrowly defined schizophrenia cases could yield more sensitive factor scores for gene pathway and gene ontology analyses. Using an Irish family sample, this study 1) factor analyzed clinician-rated Operational Criteria Checklist items in cases with schizophrenia only, 2) scored the full sample based on these factor loadings, and 3) implemented genome-wide association, gene-based, and gene-pathway analysis of these SCZ-based symptom factors (final N=507). Three factors emerged from the analysis of the schizophrenia cases: a manic, a depressive, and a positive symptom factor. In gene-based analyses of these factors, multiple genes had q<0.01. Of particular interest are findings for PTPRG and WBP1L, both of which were previously implicated by the Psychiatric Genomics Consortium study of SCZ; results from this study suggest that variants in these genes might also act as modifiers of SCZ symptoms. Gene pathway analyses of the first factor indicated over-representation of glutamatergic transmission, GABA-A receptor, and cyclic GMP pathways. Results suggest that these pathways may have differential influence on affective symptom presentation in schizophrenia.


Assuntos
Redes Reguladoras de Genes/genética , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Transtornos Psicóticos/etiologia , Transtornos Psicóticos/genética , Esquizofrenia/complicações , Análise Fatorial , Feminino , Genótipo , Humanos , Masculino , Esquizofrenia/diagnóstico
11.
Insights Imaging ; 5(2): 217-30, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24500656

RESUMO

OBJECTIVES: The aim was to assess the performance of low-dose non-contrast CT of the urinary tract (LD-CT) acquired at radiation exposures close to that of abdominal radiography using adaptive statistical iterative reconstruction (ASiR). METHODS: Thirty-three patients with clinically suspected renal colic were prospectively included. Conventional dose (CD-CT) and LD-CT data sets were contemporaneously acquired. LD-CT images were reconstructed with 40 %, 70 % and 90 % ASiR. Image quality was subjectively and objectively measured. Images were also clinically interpreted. RESULTS: Mean ED was 0.48 ± 0.07 mSv for LD-CT compared with 4.43 ± 3.14 mSv for CD-CT. Increasing the percentage ASiR resulted in a step-wise reduction in mean objective noise (p < 0.001 for all comparisons). Seventy % ASiR LD-CT images had higher diagnostic acceptability and spatial resolution than 90 % ASiR LD-CT images (p < 0.001). Twenty-seven calculi (diameter = 5.5 ± 1.7 mm), including all ureteric stones, were correctly identified using 70 % ASiR LD-CT with two false positives and 16 false negatives (diameter = 2.3 ± 0.7 mm) equating to a sensitivity and specificity of 72 % and 94 %. Seventy % ASiR LD-CT had a sensitivity and specificity of 87 % and 100 % for detection of calculi >3 mm. CONCLUSION: Reconstruction of LD-CT images with 70 % ASiR resulted in superior image quality than FBP, 40 % ASIR and 90 % ASIR. LD-CT with ASIR demonstrates high sensitivity and specificity for detection of calculi >3 mm. TEACHING POINTS: • Low-dose CT studies for urinary calculus detection were performed with a mean dose of 0.48 ± 0.07 mSv • Low-dose CT with 70 % ASiR detected calculi >3 mm with a sensitivity and specificity of 87 % and 100 % • Reconstruction with 70 % ASiR was superior to filtered back projection, 40 % ASiR and 90 % ASiR images.

12.
Mol Psychiatry ; 19(1): 37-40, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24217254

RESUMO

A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2--the reciprocal of the well-known, risk-inducing deletion of this locus--are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.


Assuntos
Anormalidades Múltiplas/genética , Duplicação Cromossômica/genética , Variações do Número de Cópias de DNA/genética , Síndrome de DiGeorge/genética , Predisposição Genética para Doença , Esquizofrenia/genética , Anormalidades Múltiplas/epidemiologia , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/epidemiologia , Feminino , Humanos , Masculino , Esquizofrenia/epidemiologia
13.
Schizophr Bull ; 40(1): 60-5, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23970557

RESUMO

BACKGROUND: Early descriptive work and controlled family and adoption studies support the hypothesis that a range of personality and nonschizophrenic psychotic disorders aggregate in families of schizophrenic probands. Can we validate, using molecular polygene scores from genome-wide association studies (GWAS), this schizophrenia spectrum? METHODS: The predictive value of polygenic findings reported by the Psychiatric GWAS Consortium (PGC) was applied to 4 groups of relatives from the Irish Study of High-Density Schizophrenia Families (ISHDSF; N = 836) differing on their assignment within the schizophrenia spectrum. Genome-wide single nucleotide polymorphism data for affected and unaffected relatives were used to construct per-individual polygene risk scores based on the PGC stage-I results. We compared mean polygene scores in the ISHDSF with mean scores in ethnically matched population controls (N = 929). RESULTS: The schizophrenia polygene score differed significantly across diagnostic categories and was highest in those with narrow schizophrenia spectrum, lowest in those with no psychiatric illness, and in-between in those classified in the intermediate, broad, and very broad schizophrenia spectrum. Relatives of all of these groups of affected subjects, including those with no diagnosis, had schizophrenia polygene scores significantly higher than the control sample. CONCLUSIONS: In the relatives of high-density families, the observed pattern of enrichment of molecular indices of schizophrenia risk suggests an underlying, continuous liability distribution and validates, using aggregate common risk alleles, a genetic basis for the schizophrenia spectrum disorders. In addition, as predicted by genetic theory, nonpsychotic members of multiply-affected schizophrenia families are significantly enriched for replicated, polygenic risk variants compared with the general population.


Assuntos
Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Herança Multifatorial/genética , Linhagem , Esquizofrenia/genética , Genótipo , Humanos , Irlanda/epidemiologia , Irlanda do Norte/epidemiologia , Polimorfismo de Nucleotídeo Único/genética , Valor Preditivo dos Testes , Esquizofrenia/classificação , Esquizofrenia/epidemiologia
14.
Mar Environ Res ; 90: 104-12, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23871519

RESUMO

We present the results of experiments to assess the immediate impact of scallop dredging on the seabed sediment and on the inhabiting infauna. The passage of the scallop dredge is shown to homogenise the seabed, flattening sand ripples. The turbulent wake entrains up to the equivalent of a 1 mm layer of sediment per unit of swept width, although an analysis of the finer particles material implies that the suspended silt material must originate from depths of at least 10 mm. The species most abundant in the sediment plume either swim actively in the water column or are found in, or on, the upper layers of the substrate, whereas those most abundant in core samples taken from the sediment, but not present in the net samples, are almost all tube-building or deep burrowing. The vertical stratification of sediment concentration and of animal numbers in the water column suggests that even if some of these species respond actively to the presence of the dredge, once entrained, they are transported more or less passively in the same way as the larger sediment particles. There was no difference between the core samples taken before or after towing suggesting that animals mobilised by the dredge resettle in the tow path. Our analysis does not provide any information regarding the fate of these animals.


Assuntos
Organismos Aquáticos/fisiologia , Biota , Conservação dos Recursos Naturais , Sedimentos Geológicos/análise , Pectinidae , Animais , Monitoramento Ambiental , Escócia
15.
Eur J Trauma Emerg Surg ; 39(3): 249-55, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26815231

RESUMO

BACKGROUND: The dynamic hip screw (DHS) has been widely adopted as the implant of choice in the treatment of intertrochanteric fractures. There have been attempts over the years to improve on the DHS lag screw design in order to reduce failure in the form of "cut out". The purpose of this study was to investigate how two new design variations of the DHS, the DHS blade and the X-BOLT, behave within bone, and if these design modifications do indeed improve the fixation achieved and lead to a reduction in failure due to cut out. METHODS: "Pushout" tests were chosen as the means of investigating the failure modes and patterns for these implants that lead to cut out. These pushout studies were performed in artificial bone substrate in the form of polyurethane foam blocks and in cadaveric femoral heads. RESULTS: The results demonstrated that each individual implant produces its own specific distinct force-displacement curve or pattern of failure, and that despite the very different implant designs and methods of fixation, all of the implants tested reached very similar peak forces in each of the test materials used. CONCLUSION: The results demonstrated that implant design only influences the pattern of failure, and that the peak forces reached by each implant are determined by the quality of the bone or test material into which they are placed. However, altering the force-displacement curve or pattern of failure may be enough to improve the fixation achieved and to provide an increased resistance to cut out.

16.
Neurosci Lett ; 532: 33-8, 2013 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-22982201

RESUMO

OBJECTIVE: The Schizophrenia Psychiatric Genome-wide Association (GWAS) Consortium recently reported on five novel schizophrenia susceptibility loci. The most significant finding mapped to a micro-RNA, MIR-137, which may be involved in regulating the function of other schizophrenia and bipolar disorder susceptibility genes. METHOD: We genotyped 821 patients with confirmed DSM-IV diagnoses of schizophrenia, bipolar affective disorder I and schizoaffective disorder for the risk SNP (rs1625579) and investigated the clinical profiles of risk allele carriers using a within-case design. We also assessed neurocognitive performance in a subset of cases (n=399) and controls (n=171). RESULTS: Carriers of the risk allele had lower scores for an OPCRIT-derived positive symptom factor (p=0.04) and lower scores on a lifetime measure of psychosis incongruity (p=0.017). Risk allele carriers also had more cognitive deficits involving episodic memory and attentional control. CONCLUSION: This is the first evidence that the MIR-137 risk variant may be associated with a specific subgroup of psychosis patients. Although the effect of this single SNP was not clinically relevant, investigation of the impact of carrying multiple risk SNPs in the MIR-137 regulatory network on diagnosis and illness profile may be warranted.


Assuntos
Transtornos Cognitivos/genética , MicroRNAs/genética , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adolescente , Adulto , Transtorno Bipolar/genética , Estudos de Casos e Controles , Estudos de Associação Genética , Genótipo , Heterozigoto , Humanos , Polimorfismo de Nucleotídeo Único , Transtornos Psicóticos/genética , Adulto Jovem
17.
Mol Psychiatry ; 18(6): 708-12, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22614287

RESUMO

The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC) highlighted 81 single-nucleotide polymorphisms (SNPs) with moderate evidence for association to schizophrenia. After follow-up in independent samples, seven loci attained genome-wide significance (GWS), but multi-locus tests suggested some SNPs that did not do so represented true associations. We tested 78 of the 81 SNPs in 2640 individuals with a clinical diagnosis of schizophrenia attending a clozapine clinic (CLOZUK), 2504 cases with a research diagnosis of bipolar disorder, and 2878 controls. In CLOZUK, we obtained significant replication to the PGC-associated allele for no fewer than 37 (47%) of the SNPs, including many prior GWS major histocompatibility complex (MHC) SNPs as well as 3/6 non-MHC SNPs for which we had data that were reported as GWS by the PGC. After combining the new schizophrenia data with those of the PGC, variants at three loci (ITIH3/4, CACNA1C and SDCCAG8) that had not previously been GWS in schizophrenia attained that level of support. In bipolar disorder, we also obtained significant evidence for association for 21% of the alleles that had been associated with schizophrenia in the PGC. Our study independently confirms association to three loci previously reported to be GWS in schizophrenia, and identifies the first GWS evidence in schizophrenia for a further three loci. Given the number of independent replications and the power of our sample, we estimate 98% (confidence interval (CI) 78-100%) of the original set of 78 SNPs represent true associations. We also provide strong evidence for overlap in genetic risk between schizophrenia and bipolar disorder.


Assuntos
alfa-Globulinas/genética , Autoantígenos/genética , Canais de Cálcio Tipo L/genética , Predisposição Genética para Doença/genética , Proteínas de Neoplasias/genética , Polimorfismo de Nucleotídeo Único/genética , Polimorfismo de Nucleotídeo Único/imunologia , Esquizofrenia/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Antipsicóticos/uso terapêutico , Transtorno Bipolar/tratamento farmacológico , Transtorno Bipolar/genética , Clozapina/uso terapêutico , Feminino , Estudo de Associação Genômica Ampla , Humanos , Complexo Principal de Histocompatibilidade/genética , Masculino , Pessoa de Meia-Idade , Esquizofrenia/tratamento farmacológico , População Branca/genética , Adulto Jovem
18.
Ir Med J ; 105(9): 306, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23240284

RESUMO

Patients that sustain pelvic and/or acetabular trauma in Ireland and require surgical intervention are treated at the Adelaide and Meath National Children's Hospital (AMNCH). For this study an audit was conducted of all pelvic and acetabular fractures referred to the AMNCH over a 12 month period from July 2010 to June 2011. This study was conducted with the purpose of recording the different fracture patterns, methods of injury and surgical procedures performed over this time frame. The results demonstrate that 109 patients were referred to the AMNCH with the majority of these fractures being sustained as the result of an RTA (43) or a fall from a height (45). Seventy one patients suffered an acetabular fracture while 43 patients suffered a fracture of their pelvic ring with some patients suffering both. There were 129 surgical procedures performed with 25 patients having more than one surgical procedure.


Assuntos
Acetábulo/lesões , Fixação de Fratura/métodos , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/cirurgia , Ossos Pélvicos/lesões , Acidentes por Quedas/estatística & dados numéricos , Acidentes/estatística & dados numéricos , Adolescente , Adulto , Traumatismos em Atletas/epidemiologia , Traumatismos em Atletas/cirurgia , Criança , Feminino , Humanos , Irlanda , Masculino , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
19.
Health Technol Assess ; 16(8): iii-iv, 1-76, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22364962

RESUMO

OBJECTIVE: To examine the clinical effectiveness and cost-effectiveness of referral to group art therapy plus standard care, compared with referral to an activity group plus standard care and standard care alone, among people with schizophrenia. DESIGN: A three-arm, parallel group, single-blind, pragmatic, randomised controlled trial. Participants were randomised via an independent and remote telephone randomisation service using permuted blocks, stratified by study centre. SETTING: Study participants were recruited from secondary care mental health and social services in four UK centres. PARTICIPANTS: Potential participants were aged 18 years or over, had a clinical diagnosis of schizophrenia, confirmed by an examination of case notes, and provided written informed consent. We excluded those who were unable to speak sufficient English to complete the baseline assessment, those with severe cognitive impairment and those already receiving arts therapy. INTERVENTIONS: Group art therapy was delivered by registered art therapists according to nationally agreed standards. Groups had up to eight members, lasted for 90 minutes and ran for 12 months. Members were given access to a range of art materials and encouraged to use these to express themselves freely. Activity groups were designed to control for the non-specific effects of group art therapy. Group facilitators offered various activities and encouraged participants to collectively select those they wanted to pursue. Standard care involved follow-up from secondary care mental health services and the option of referral to other services, except arts therapies, as required. MAIN OUTCOME MEASURES: Our co-primary outcomes were global functioning (measured using the Global Assessment of Functioning Scale - GAF) and mental health symptoms (measured using the Positive and Negative Syndrome Scale - PANSS) at 24 months. The main secondary outcomes were level of group attendance, social functioning, well-being, health-related quality of life, service utilisation and other costs measured 12 and 24 months after randomisation. RESULTS: Four hundred and seventeen people were recruited, of whom 355 (85%) were followed up at 2 years. Eighty-six (61%) of those randomised to art therapy and 73 (52%) of those randomised to activity groups attended at least one group. No differences in primary outcomes were found between the three study arms. The adjusted mean difference between art therapy and standard care at 24 months was -0.9 [95% confidence interval (CI) -3.8 to 2.1] on the GAF Scale and 0.7 (95% CI -3.1 to 4.6) on the PANSS Scale. Differences in secondary outcomes were not found, except that those referred to an activity group had fewer positive symptoms of schizophrenia at 24 months than those randomised to art therapy. Secondary analysis indicated that attendance at art therapy groups was not associated with improvements in global functioning or mental health. Although the total cost of the art therapy group was lower than the cost of the two comparison groups, referral to group art therapy did not appear to provide a cost-effective use of resources. CONCLUSIONS: Referring people with established schizophrenia to group art therapy as delivered in this randomised trial does not appear to improve global functioning or mental health of patients or provide a more cost-effective use of resources than standard care alone. TRIAL REGISTRATION: Current Controlled Trials ISRCTN 46150447. FUNDING: This project was funded by the NIHR Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 16, No. 8. See the HTA programme website for further project information.


Assuntos
Arteterapia/métodos , Psicoterapia de Grupo/métodos , Esquizofrenia/reabilitação , Adolescente , Adulto , Idoso , Arteterapia/economia , Análise Custo-Benefício , Inglaterra , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Irlanda do Norte , Avaliação de Processos e Resultados em Cuidados de Saúde , Psicoterapia de Grupo/economia , Anos de Vida Ajustados por Qualidade de Vida , Esquizofrenia/economia , Adulto Jovem
20.
J Surg Case Rep ; 2012(9): 11, 2012 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-24960797

RESUMO

A case is presented of a healthy 57 year old female who slipped and fell awkwardly into what is known in athletic terms as the front splits. As a result of her fall she sustained bilateral crescent and superior and inferior rami pelvic fractures. Successful operative fixation was undertaken by a combination of open and percutaneous techniques. To our knowledge this is the first reported case of bilateral crescent fractures, and of a pelvic fracture as a result of this mechanism of injury.

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