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1.
Ind Eng Chem Res ; 61(9): 3272-3277, 2022 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-35295760

RESUMO

The use of Ca(OH)2 as a CO2 sorbent instead of CaO in calcium looping systems has the advantage of a much faster reaction rate of carbonation and a larger conversion degree to CaCO3. This work investigates the carbonation kinetics of fine Ca(OH)2 particles (<10 µm) in a range of reaction conditions (i.e., 350-650 °C and CO2 concentrations up to 25%v) that could be of interest for applications where a short contact time is expected between the solids and the gases (i.e., entrained bed carbonator reactors). For this purpose, experiments in a drop tube reactor with short reaction times (i.e., below 6 s) have been carried out. High carbonation conversions up to 0.7 have been measured under these conditions, supporting the viability of using entrained carbonator reactors. The experimental results have been fitted to a shirking core model, and the corresponding kinetic parameters for the carbonation reaction have been determined.

2.
Rev. chil. enferm. respir ; 38(1): 11-19, mar. 2022. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1388167

RESUMO

Resumen El uso de escalas de predicción clínica puede incrementar la detección temprana de enfermedad pulmonar obstructiva crónica (EPOC). Su rendimiento en población latinoamericana ha sido pobremente estudiado. Nuestro objetivo fue determinar la validez y reproducibilidad del cuestionario PUMA, como herramienta de tamización en atención primaria en población colombiana, mediante un estudio tipo corte transversal; donde se establecieron las características operativas del cuestionario, área bajo la curva de características operativas del receptor (ACOR) y el mejor punto de corte para esta población. 1.980 sujetos fueron incluidos en el análisis. La prevalencia de EPOC correspondió a 18,9%. La capacidad discriminatoria del cuestionario fue de 0,69 (IC95%: 0,66-0,72), para un punto de corte óptimo mayor de 5, con una sensibilidad del 60%, especificidad 66% y un valor predictivo negativo de 88%. La escala PUMA para tamizaje de pacientes en riesgo de EPOC tiene una capacidad discriminatoria moderada y una excelente reproducibilidad en la población estudiada.


The use of clinical prediction scales may increase the early detection of chronic obstructive pulmonary disease (COPD). The performance characteristics of these scales in the Latin American population is poorly studied. We aimed to evaluate validity and reproducibility of PUMA questionnaire as a screening tool in primary care in a Colombian population. A cross-sectional study was performed. Operational characteristics of the questionnaire, the area under the received operator curve (AUROC), and the best cut-off point of the score were calculated. 1,980 individuals were included in this analysis. Prevalence of COPD was 18.9%. AUROC of the questionary was 0.69 (CI95%: 0.66-0.72), with an optimal cut-off point greater than 5 (sensitivity 60%, specificity 66%); predictive negative value was 88%. PUMA's scale for the screening of patients at risk of COPD has a moderate accuracy and an excellent reproducibility in the studied population.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Atenção Primária à Saúde , Inquéritos e Questionários , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Programas de Rastreamento , Prevalência , Estudos Transversais , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Colômbia/epidemiologia
3.
J Psychopharmacol ; 34(9): 990-998, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32536252

RESUMO

BACKGROUND: Evidence suggests that the AKT1 gene may modulate the degree to which cannabis use induces cognitive alterations in patients with a psychotic disorder. AIM: To examine the interplay between AKT1 and cannabis use in terms of the cognitive performance of the general population. METHODS: Our sample consisted of 389 Spanish university students. Sustained attention was measured via the Continuous Performance Test-Identical Pairs, immediate and delayed verbal memory with the Logical Memory subtest of the Wechsler Memory Scale, and working memory with the Wisconsin Card Sorting Test. Lifetime cannabis use frequency was assessed and individuals were classified as cannabis users or non-users. Two single nucleotide polymorphisms of the AKT1 gene were genotyped and, according to previous studies, each subject was defined as a carrier of two, one or no copies of the haplotype (rs2494732(C)-rs1130233(A)). Multiple linear regressions were conducted to test the effect of the genetic variability and cannabis use (and their interaction) on cognitive performance. RESULTS: An effect of the AKT1 haplotype was found on attention scores: individuals with two copies of the haplotype performed better (ß=0.18, p<0.001 (adjusted for false discovery rate)), while neither cannabis nor the AKT1-cannabis interaction was associated with attention. No effect of AKT1, cannabis or the AKT1-cannabis interaction was found on verbal memory or working memory. CONCLUSIONS: Our study provides additional evidence that AKT1 modulates cognitive performance. However, in our non-clinical sample, the previously reported interaction between cannabis use and the AKT1 gene was not replicated.


Assuntos
Atenção/fisiologia , Uso da Maconha/efeitos adversos , Memória/fisiologia , Proteínas Proto-Oncogênicas c-akt/genética , Desempenho Psicomotor/fisiologia , Adulto , Feminino , Voluntários Saudáveis , Humanos , Masculino , Testes Neuropsicológicos , Polimorfismo de Nucleotídeo Único , Adulto Jovem
5.
Behav Res Methods ; 52(6): 2489-2505, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32462604

RESUMO

In self-report surveys, it is common that some individuals do not pay enough attention and effort to give valid responses. Our aim was to investigate the extent to which careless and insufficient effort responding contributes to the biasing of data. We performed analyses of dimensionality, internal structure, and data reliability of four personality scales (extroversion, conscientiousness, stability, and dispositional optimism) in two independent samples. In order to identify careless/insufficient effort (C/IE) respondents, we used a factor mixture model (FMM) designed to detect inconsistencies of response to items with different semantic polarity. The FMM identified between 4.4% and 10% of C/IE cases, depending on the scale and the sample examined. In the complete samples, all the theoretical models obtained an unacceptable fit, forcing the rejection of the starting hypothesis and making additional wording factors necessary. In the clean samples, all the theoretical models fitted satisfactorily, and the wording factors practically disappeared. Trait estimates in the clean samples were between 4.5% and 11.8% more accurate than in the complete samples. These results show that a limited amount of C/IE data can lead to a drastic deterioration in the fit of the theoretical model, produce large amounts of spurious variance, raise serious doubts about the dimensionality and internal structure of the data, and reduce the reliability with which the trait scores of all surveyed are estimated. Identifying and filtering C/IE responses is necessary to ensure the validity of research results.


Assuntos
Personalidade , Viés , Humanos , Reprodutibilidade dos Testes , Autorrelato , Inquéritos e Questionários
6.
J Mycol Med ; 30(1): 100916, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31843296

RESUMO

Here, we describe an invasive infection due to Trichosporon coremiiforme in an HIV positive patient with neutropenia. The strain was first erroneously identified as Trichosporon asahii by conventional methods, but correctly identified by mass spectrometry using matrix-assisted laser desorption/ionization time-of-flight technology (MALDI-TOF MS) and ribosomal DNA sequencing. The infection was successfully resolved after antifungal treatment with amphotericin B and fluconazole. This case report is a contribution to the study of T. coremiiforme infections and reinforces its relevance as a species capable of causing invasive human infection in immunocompromised patients and also contributes to the study of its susceptibility profile against antifungal drugs.


Assuntos
Infecções Relacionadas a Cateter/diagnóstico , Infecções por HIV/complicações , Neutropenia/complicações , Tricosporonose/diagnóstico , Infecções Oportunistas Relacionadas com a AIDS/sangue , Infecções Oportunistas Relacionadas com a AIDS/diagnóstico , Infecções Oportunistas Relacionadas com a AIDS/tratamento farmacológico , Infecções Oportunistas Relacionadas com a AIDS/microbiologia , Anfotericina B/administração & dosagem , Antituberculosos/administração & dosagem , Bacteriemia/diagnóstico , Bacteriemia/tratamento farmacológico , Bacteriemia/microbiologia , Infecções Relacionadas a Cateter/complicações , Infecções Relacionadas a Cateter/tratamento farmacológico , Infecções Relacionadas a Cateter/microbiologia , Cateteres Venosos Centrais/efeitos adversos , Cateteres Venosos Centrais/microbiologia , Quimioterapia Combinada , Feminino , Fluconazol/administração & dosagem , HIV , Infecções por HIV/diagnóstico , Infecções por HIV/microbiologia , Humanos , Hospedeiro Imunocomprometido , Pessoa de Meia-Idade , Neutropenia/diagnóstico , Neutropenia/microbiologia , Neutropenia/virologia , Trichosporon/isolamento & purificação , Tricosporonose/tratamento farmacológico , Tricosporonose/etiologia , Tuberculose Pulmonar/complicações , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/microbiologia
7.
J Affect Disord ; 255: 15-22, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31195252

RESUMO

BACKGROUND: Around 8% of bipolar disorder (BD) patients die by suicide every year, accounting for the highest rate among the psychiatric population. Suicidal behavior (SB) is mediated by an intertwining system of extrinsic and intrinsic factors. Childhood trauma (CT) and gene variants of the stress-management hypothalamic-pituitary-adrenal (HPA) axis have been reported as risk factors for SB. The aim of this study was to elucidate the association of CT and HPA axis genetic variants with SB. METHODS: 135 BD patients were recruited for clinical assessment of CT and SB by means of the Childhood Trauma Questionnaire (CTQ) and the Columbia Suicide Severity Rating Scale (C-SSRS), respectively. A total of 28 single nucleotide polymorphisms (SNPs) from 8 HPA axis genes (POMC, NR3C2, CRH-BP, NR3C1, FKBP5, CRHR2, CRHR1, and MC2R) were genotyped. RESULTS: The analyses showed an association of total CTQ score (p = 0.003), emotional abuse (p = 0.001), sexual abuse (p = 0.005) and emotional neglect (p = 0.005) with SB. CRH-BP rs7728378-C carriers (p = 0.004; OR = 3.05), FKBP5 rs3777747-AA (p = 0.039; OR = 0.34) and FKBP5 rs2766533-GG genotypes (p = 0.001; OR = 2.93) were associated with SB although only rs2766533 survived multiple test correction. No gene-environment interaction was found. LIMITATIONS: The relatively small sample size limits the statistical power to detect smaller environmental and genetic effects. Cross-sectional data collection in psychometric assessments can yield biased data. CONCLUSIONS: The present study characterizes novel SB risk factors and replicates previous findings in BD patients. CT and variability in CRH-BP and FKBP5 genes should be further studied for a better understanding of SB and ultimately help in suicide prevention.


Assuntos
Transtorno Bipolar/genética , Transtorno Bipolar/psicologia , Proteínas de Transporte/genética , Maus-Tratos Infantis/psicologia , Ideação Suicida , Suicídio , Proteínas de Ligação a Tacrolimo/genética , Adulto , Criança , Estudos Transversais , Feminino , Interação Gene-Ambiente , Genótipo , Humanos , Sistema Hipotálamo-Hipofisário , Masculino , Pessoa de Meia-Idade , Sistema Hipófise-Suprarrenal , Polimorfismo de Nucleotídeo Único , Fatores de Risco
8.
Rev Chilena Infectol ; 36(1): 26-31, 2019 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-31095201

RESUMO

BACKGROUND: Early viral detection in acute respiratory infections (ARI) is essential to establish appropriate therapy and prevent nosocomial transmission. OBJECTIVE: To compare the efficacy of indirect immunofluorescence technique (IIF) with the polymerase chain reaction (PCR) to identify respiratory viruses in children hospitalized for ARI. METHODS: 47 nasopharyngeal aspirates of children ≤ 2 years with ARI were included. IFI included respiratory syncytial virus (RSV), adenovirus, influenza A and B and parainfluenza. PCR also included the detection of metapneumovirus, enterovirus/rhinovirus, bocavirus and coronavirus. Sensitivity, specificity, positive and negative predictive value (VPP/NPV) and kappa correlation for RSV were estimated by IIF compared to PCR. RESULTS: The IIF detected only RSV (29; 61.7%). PCR detected several viruses, including RSV in 26 cases (55.3%), followed by bocavirus (29.8%), rhinovirus/enterovirus (21.3%), adenovirus (14.9%) and parainfluenza (4,3%) among others, with 35.5% of coinfection. The IIF presented sensitivity: 85.7%, specificity: 73.6%, PPV: 82.7%, NPV: 77.7% and kappa: 0.5990 (95% CI, 0.3636-0.8346) for RSV. CONCLUSION: The IIF presents good sensitivity, but moderate specificity for RSV. However, IIF fails to detect other respiratory viruses. The introduction of PCR would improve the etiological diagnosis of ARI of viral origin.


Assuntos
Técnica Indireta de Fluorescência para Anticorpo/métodos , Nasofaringe/virologia , Reação em Cadeia da Polimerase/métodos , Vírus/isolamento & purificação , Adolescente , Criança , Pré-Escolar , Chile , Estudos Transversais , Vírus de DNA/isolamento & purificação , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Vírus de RNA/isolamento & purificação , Reprodutibilidade dos Testes , Infecções Respiratórias/virologia , Sensibilidade e Especificidade
9.
Rev. chil. infectol ; 36(1): 26-31, feb. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1003653

RESUMO

Resumen Introducción: La temprana detección viral en infecciones respiratorias agudas (IRA) es esencial para establecer una terapia apropiada y prevenir el contagio intrahospitalario. Objetivo: Comparar la eficacia de la técnica de inmunofluorescencia indirecta (IFI) con la reacción de polimerasa en cadena (RPC) para identificar virus respiratorios en niños hospitalizados por IRA. Métodos: Se incluyeron 47 aspirados nasofaríngeos de niños ≤ 2 años con IRA. La IFI incluyó virus respiratorio sincicial (VRS), adenovirus, influenza A y B y parainfluenza. La RPC incluyó, además, la detección de metapneumovirus, enterovirus/rinovirus, bocavirus y coronavirus. Se estimó sensibilidad, especificidad, valor predictor positivo y negativo (VPP/VPN) y correlación kappa para VRS mediante IFI en comparación a la RPC. Resultados: La IFI detectó únicamente VRS (29; 61,7%). La RPC detectó diversos virus, entre ellos VRS en 26 casos (55,3%), seguido por bocavirus (29,8%), enterovirus/ rinovirus (21,3%), adenovirus (14,9%) y parainfluenza (4,3%) entre otros, con 35,5% de co-infección. La IFI presentó sensibilidad: 85,7%, especificidad: 73,6%, VPP: 82,7%, VPN: 77,7% y kappa: 0,5990 (IC 95%; 0,36360,8346) para VRS. Conclusión: La IFI presenta buena sensibilidad, pero moderada especificidad para VRS. Sin embargo, falla en la detección de otros virus respiratorios. La introducción de RPC permitiría mejorar el diagnóstico etiológico de las IRA de origen viral.


Background: Early viral detection in acute respiratory infections (ARI) is essential to establish appropriate therapy and prevent nosocomial transmission. Objective: To compare the efficacy of indirect immunofluorescence technique (IIF) with the polymerase chain reaction (PCR) to identify respiratory viruses in children hospitalized for ARI. Methods: 47 nasopharyngeal aspirates of children ≤ 2 years with ARI were included. IFI included respiratory syncytial virus (RSV), adenovirus, influenza A and B and parainfluenza. PCR also included the detection of metapneumovirus, enterovirus/rhinovirus, bocavirus and coronavirus. Sensitivity, specificity, positive and negative predictive value (VPP/NPV) and kappa correlation for RSV were estimated by IIF compared to PCR. Results: The IIF detected only RSV (29; 61.7%). PCR detected several viruses, including RSV in 26 cases (55.3%), followed by bocavirus (29.8%), rhinovirus/enterovirus (21.3%), adenovirus (14.9%) and parainfluenza (4,3%) among others, with 35.5% of coinfection. The IIF presented sensitivity: 85.7%, specificity: 73.6%, PPV: 82.7%, NPV: 77.7% and kappa: 0.5990 (95% CI, 0.3636-0.8346) for RSV. Conclusion: The IIF presents good sensitivity, but moderate specificity for RSV. However, IIF fails to detect other respiratory viruses. The introduction of PCR would improve the etiological diagnosis of ARI of viral origin.


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Vírus/isolamento & purificação , Nasofaringe/virologia , Reação em Cadeia da Polimerase/métodos , Técnica Indireta de Fluorescência para Anticorpo/métodos , Infecções Respiratórias/virologia , Vírus de RNA/isolamento & purificação , Chile , Estudos Transversais , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Vírus de DNA/isolamento & purificação
10.
Hum Reprod ; 34(3): 568-573, 2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30597018

RESUMO

Although most XYY men have normal sperm counts and are fertile (supposedly due to the loss of the extra Y before meiosis), there is a minority who are infertile. In these cases, the XYY spermatocytes are able to enter meiosis and form different synaptic configurations. With regard to mosaics, there is scarce well-defined information on the presence of the second Y and its meiotic behaviour. In this study, the chromosome constitution and the synaptic behaviour of pachytene spermatocytes from an azoospermic man with testicular hypotrophy and non-mosaic 47,XYY karyotype were analysed. Furthermore, we determined the chromosome constitution of the somatic Sertoli cells. Five karyotypically normal men with obstructive azoospermia, but having complete spermatogenesis, were included as controls. Immuno-FISH using specific protein markers of synapsis and recombination (SYCP3, SYCP1, BRCA1, MLH1, CREST) and a specific Yq12 DNA probe were used. In addition, we used the newly developed Super-Resolution Structured Illumination Microscopy (SR-SIM) to clearly define the synaptic configurations. FISH analysis was also performed on Sertoli cells. The histopathological analysis showed variable degrees of spermatogenesis development in the testicular tissue of the propositus. Immuno-FISH analysis showed that most of the primary spermatocytes were euploid 46, XY. The use of SR-SIM confirmed the existence of this euploidy. Only a few pachytene spermatocytes showed an aneuploid X + YY constitution. Sertoli cells showed two different populations with one or two Y chromosomes, in similar proportions. Thus an abnormal niche of sex-trisomic Sertoli cells should be also considered when searching for the origin of spermatogenesis failure in XYY men.


Assuntos
Azoospermia/genética , Infertilidade Masculina/genética , Mosaicismo , Transtornos dos Cromossomos Sexuais/genética , Espermatócitos , Cariótipo XYY/genética , Adulto , Aneuploidia , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Meiose , Células de Sertoli , Espermatogênese , Espermatozoides , Testículo
11.
Eur Neuropsychopharmacol ; 28(7): 863-874, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29807846

RESUMO

The presence of abnormalities in emotional decision-making and reward processing among bipolar patients (BP) has been well rehearsed. These disturbances are not limited to acute phases and are common even during remission. In recent years, the existence of discrete cognitive profiles in this psychiatric population has been replicated. However, emotional decision making and reward processing domains have barely been studied. Therefore, our aim was to explore the existence of different profiles on the aforementioned cognitive dimensions in BP. The sample consisted of 126 euthymic BP. Main sociodemographic, clinical, functioning, and neurocognitive variables were gathered. A hierarchical-clustering technique was used to identify discrete neurocognitive profiles based on the performance in the Iowa Gambling Task. Afterward, the resulting clusters were compared using ANOVA or Chi-squared Test, as appropriate. Evidence for the existence of three different profiles was provided. Cluster 1 was mainly characterized by poor decision ability. Cluster 2 presented the lowest sensitivity to punishment. Finally, cluster 3 presented the best decision-making ability and the highest levels of punishment sensitivity. Comparison between the three clusters indicated that cluster 2 was the most functionally impaired group. The poorest outcomes in attention, executive function domains, and social cognition were also observed within the same group. In conclusion, similarly to that observed in "cold cognitive" domains, our results suggest the existence of three discrete cognitive profiles concerning emotional decision making and reward processing. Amongst all the indexes explored, low punishment sensitivity emerge as a potential correlate of poorer cognitive and functional outcomes in bipolar disorder.


Assuntos
Transtorno Bipolar/psicologia , Tomada de Decisões , Emoções , Recompensa , Adulto , Atenção , Análise por Conglomerados , Função Executiva , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Punição/psicologia , Adulto Jovem
12.
J Affect Disord ; 211: 92-98, 2017 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-28107668

RESUMO

BACKGROUND: Neuritin-1 is a neurotrophic factor involved in synaptic plasticity that has been associated with depressive disorders, schizophrenia and cognitive performance. The study of genotype-phenotype relationships in healthy individuals is a useful framework to investigate the etiology of brain dysfunctions. We therefore aimed to investigate in a non-clinical sample whether NRN1 gene contributes to the psychopathological profile, with a particular focus on the clinical dimensions previously related to the NRN1 gene (i.e. depressive and psychotic). Furthermore, we aimed to analyze: i) the role of NRN1 on executive functions, ii) whether the association between either NRN1-psychopathological profile or NRN1-cognitive performance is moderated by the BDNF gene. METHODS: The sample comprised 410 non-clinical subjects who filled in the self-reported Brief Symptom Inventory (BSI) and were assessed for executive performance (Verbal Fluency, Wisconsin Card Sorting Test (WCST) and Letter-Number subscale (WAIS-III)). Genotyping included nine SNPs in NRN1 and one in BDNF. RESULTS: i) GG homozygotes (rs1475157-NRN1) showed higher scores on BSI depressive dimension and on total scores compared to A carriers (corrected p-values: 0.0004 and 0.0003, respectively). ii) a linear trend was detected between GG genotype of rs1475157 and a worse cognitive performance in WCST total correct responses (uncorrected p-value: 0.029). iii) Interaction between rs1475157-NRN1 and Val66Met-BDNF was found to modulate depressive symptoms (p=0.001, significant after correction). LIMITATIONS: Moderate sample size; replication in a larger sample is needed. CONCLUSIONS: NRN1 is associated with depressive symptoms and executive function in a non-clinical sample. Our results also suggest that the role of NRN1 seems to be modulated by BDNF.


Assuntos
Fator Neurotrófico Derivado do Encéfalo/genética , Depressão/genética , Transtorno Depressivo/genética , Polimorfismo Genético , Adulto , Função Executiva , Feminino , Predisposição Genética para Doença , Genótipo , Heterozigoto , Humanos , Masculino , Plasticidade Neuronal , Esquizofrenia/genética
13.
Eur Psychiatry ; 40: 60-64, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27855309

RESUMO

BACKGROUND: The interest in studying gene-gene interactions is increasing for psychiatric diseases such as schizophrenia-spectrum disorders (SSD), where multiple genes are involved. Dysbindin-1 (DTNBP1) and Neuritin-1 (NRN1) genes have been previously associated with SSD and both are involved in synaptic plasticity. We aimed to study whether these genes show an epistatic effect on the risk for SSD. METHODS: The sample comprised 388 SSD patients and 397 healthy subjects. Interaction was tested between: (i) three DTNBP1 SNPs (rs2619537, rs2743864, rs1047631) related to changes in gene expression; and (ii) an haplotype in NRN1 previously associated with the risk for SSD (rs645649-rs582262: HAP-risk C-C). RESULTS: An interaction between DTNBP1 rs2743864 and NRN1 HAP-risk was detected by using the model based multifactor dimensionality reduction (MB-MDR) approach (P=0.0049, after permutation procedure), meaning that the risk for SSD is significantly higher in those subjects carrying both the A allele of rs2743864 and the HAP-risk C-C. This interaction was confirmed by using a logistic regression model (P=0.033, OR (95%CI)=2.699 (1.08-6.71), R2=0.162). DISCUSSION: Our results suggest that DTNBP1 and NRN1 genes show a joint effect on the risk for SSD. Although the precise mechanism underlying this effect is unclear, the fact that these genes have been involved in synaptic maturation, connectivity and glutamate signalling suggests that our findings could be of value as a link to the schizophrenia aetiology.


Assuntos
Disbindina/genética , Neuregulina-1/genética , Polimorfismo de Nucleotídeo Único/genética , Esquizofrenia/genética , Adulto , Alelos , Proteínas de Transporte/genética , Proteínas Associadas à Distrofina/genética , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Plasticidade Neuronal
14.
Forensic Sci Int Genet ; 25: 63-72, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27500650

RESUMO

Since 1992, the Spanish and Portuguese-Speaking Working Group of the ISFG (GHEP-ISFG) has been organizing annual Intercomparison Exercises (IEs) coordinated by the Quality Service at the National Institute of Toxicology and Forensic Sciences (INTCF) from Madrid, aiming to provide proficiency tests for forensic DNA laboratories. Each annual exercise comprises a Basic (recently accredited under ISO/IEC 17043: 2010) and an Advanced Level, both including a kinship and a forensic module. Here, we show the results for both autosomal and sex-chromosomal STRs, and for mitochondrial DNA (mtDNA) in two samples included in the forensic modules, namely a mixture 2:1 (v/v) saliva/blood (M4) and a mixture 4:1 (v/v) saliva/semen (M8) out of the five items provided in the 2014 GHEP-ISFG IE. Discrepancies, other than typos or nomenclature errors (over the total allele calls), represented 6.5% (M4) and 4.7% (M8) for autosomal STRs, 15.4% (M4) and 7.8% (M8) for X-STRs, and 1.2% (M4) and 0.0% (M8) for Y-STRs. Drop-out and drop-in alleles were the main cause of errors, with laboratories using different criteria regarding inclusion of minor peaks and stutter bands. Commonly used commercial kits yielded different results for a micro-variant detected at locus D12S391. In addition, the analysis of electropherograms revealed that the proportions of the contributors detected in the mixtures varied among the participants. In regards to mtDNA analysis, besides important discrepancies in reporting heteroplasmies, there was no agreement for the results of sample M4. Thus, while some laboratories documented a single control region haplotype, a few reported unexpected profiles (suggesting contamination problems). For M8, most laboratories detected only the haplotype corresponding to the saliva. Although the GHEP-ISFG has already a large experience in IEs, the present multi-centric study revealed challenges that still exist related to DNA mixtures interpretation. Overall, the results emphasize the need for further research and training actions in order to improve the analysis of mixtures among the forensic practitioners.


Assuntos
Cromossomos Humanos X , Cromossomos Humanos Y , Impressões Digitais de DNA , DNA Mitocondrial/genética , Laboratórios/normas , Repetições de Microssatélites , Amelogenina/genética , Análise Química do Sangue , Feminino , Genética Forense , Marcadores Genéticos , Haplótipos , Humanos , Masculino , Saliva/química , Sêmen/química
15.
Acta Psychiatr Scand ; 133(4): 266-76, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26726104

RESUMO

OBJECTIVE: Our aim was to analyse sociodemographic and clinical differences between non-suicidal (NS) bipolar patients (BP), BP reporting only suicidal ideation (SI) and BP suicide attempters according to Columbia-Suicide Severity Rating Scale (C-SRSS) criteria. Secondarily, we also investigated whether the C-SRSS Intensity Scale was associated with emergence of suicidal behaviour (SB). METHOD: A total of 215 euthymic bipolar out-patients were recruited. Semistructured interviews including the C-SRSS were used to assess sociodemographic and clinical data. Patients were grouped according to C-SRSS criteria: patients who scored ≤1 on the Severity Scale were classified as NS. The remaining patients were grouped into two groups: 'patients with history of SI' and 'patients with history of SI and SB' according to whether they did or did not have a past actual suicide attempt respectively. RESULTS: Patients from the three groups differed in illness onset, diagnosis, number of episodes and admissions, family history, comorbidities, rapid cycling and medication, as well as level of education, functioning, impulsivity and temperamental profile. CONCLUSION: Our results suggest that increased impulsivity, higher rates of psychiatric admissions and a reported poor controllability of SI significantly increased the risk for suicidal acts among patients presenting SI.


Assuntos
Transtorno Bipolar/psicologia , Comportamento Impulsivo , Tentativa de Suicídio/psicologia , Temperamento , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Estudos Retrospectivos , Ideação Suicida
17.
Rev Calid Asist ; 30(5): 243-50, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-26346582

RESUMO

OBJECTIVE: To determine the design and comfort in the Intensive Care Units (ICUs), by analysing visiting hours, information, and family participation in patient care. DESIGN: Descriptive, multicentre study. SETTING: Spanish ICUs. METHODS: A questionnaire e-mailed to members of the Spanish Society of Intensive Care Medicine, Critical and Coronary Units (SEMICYUC), subscribers of the Electronic Journal Intensive Care Medicine, and disseminated through the blog Proyecto HU-CI. RESULTS: A total of 135 questionnaires from 131 hospitals were analysed. Visiting hours: 3.8% open 24h, 9.8% open daytime, and 67.7% have 2 visits a day. Information: given only by the doctor in 75.2% of the cases, doctor and nurse together in 4.5%, with a frequency of once a day in 79.7%. During weekends, information is given in 95.5% of the cases. Information given over the phone 74.4%. Family participation in patient care: hygiene 11%, feeding 80.5%, physiotherapy 17%. Personal objects allowed: mobile phone 41%, computer 55%, sound system 77%, and television 30%. Architecture and comfort: all individual cubicles 60.2%, natural light 54.9%, television 7.5%, ambient music 12%, clock in the cubicle 15.8%, environmental noise meter 3.8%, and a waiting room near the ICU 68.4%. CONCLUSIONS: Visiting policy is restrictive, with a closed ICU being the predominating culture. On average, technological communication devices are not allowed. Family participation in patient care is low. The ICU design does not guarantee privacy or provide a desirable level of comfort.


Assuntos
Arquitetura Hospitalar , Unidades de Terapia Intensiva , Política Organizacional , Conforto do Paciente , Visitas a Pacientes , Enfermagem de Cuidados Críticos , Família , Número de Leitos em Hospital , Humanos , Unidades de Terapia Intensiva/estatística & dados numéricos , Médicos , Privacidade , Relações Profissional-Família , Relações Profissional-Paciente , Espanha , Inquéritos e Questionários
19.
J Intellect Disabil Res ; 59(10): 925-41, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26018763

RESUMO

BACKGROUND: The operationalisation of quality of life for people with more severe disabilities has been acknowledged in the published research for more than two decades. This study aims to contribute to our knowledge and understanding of the quality of life of adults with severe disabilities by developing a set of quality of life indicators appropriate to this population using a Delphi method and the eight-domain conceptual model proposed by Schalock & Verdugo (2002). METHOD: The participating panel in the Delphi method included 12 experts who evaluated each proposed item according to four criteria: suitability, importance, observability and sensitivity. Descriptive analyses were used to select the best items in each of the four rounds of this Delphi study, as well as examining the coefficients of concordance that were calculated for the final pool of items. RESULTS: The four rounds of the Delphi study resulted in a final pool of 118 items (91 that were considered valid in the first round plus 27 items proposed, reformulated or discussed in the following rounds). Importance and sensitivity were the criteria that received the highest and lowest ratings, respectively, but also the ones that had the highest and lowest mean coefficients of concordance. Experts showed the strongest agreement for items related to material well-being, while the weakest was found for items related to personal development. CONCLUSIONS: This study further contributes to our understanding of how to operationalise and measure quality of life in adults with severe disabilities. The item pool generated may prove helpful in the development of instruments for the measurement of quality of life-related outcomes in this population.


Assuntos
Técnica Delphi , Pessoas com Deficiência/psicologia , Psicometria/instrumentação , Qualidade de Vida/psicologia , Inquéritos e Questionários/normas , Adulto , Humanos , Pessoa de Meia-Idade , Psicometria/métodos
20.
Res Dev Disabil ; 36C: 600-610, 2015 01.
Artigo em Inglês | MEDLINE | ID: mdl-25462520

RESUMO

This paper documents the validation of a comprehensive scale designed to assess quality-of-life related personal outcomes for people with intellectual and developmental disabilities who receive support in social organizations. The INICO-FEAPS Scale was administered to 1627 people whose ages ranged between 16 and 72 years old. The instrument comprises 72 parallel items organized around eight quality-of-life domains in each of the two forms: a self-report and a report by others. Several internal consistence indexes showed a good reliability of the scale. CFA was used to compare the goodness-of-fit to the data of alternative models. The eight-correlated first-order factors showed the best fit to the data in comparison to the unidimensional solution and hierarchical models. The instrument serves as a helpful tool for organizations to operate as bridges to the community, develop person-centered planning and individualized support, and implement evidence-based practices for quality improvement.

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