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1.
BMC Pregnancy Childbirth ; 14: 211, 2014 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-24950589

RESUMO

BACKGROUND: Childbirth is a challenging and emotive experience that is accompanied by strong positive and/or negative emotions. Memories of birth may be associated with how women cognitively process birth events postpartum and potentially their adaptation to parenthood. Characteristics of memories for birth may also be associated with postnatal psychological wellbeing. This paper reports the development and evaluation of a questionnaire to measure characteristics of memories of childbirth and to examine the relationship between memories for birth and mental health. METHODS: The Birth Memories and Recall Questionnaire (BirthMARQ) was developed by generating items from literature reviews and general measures of memory characteristics to cover dimensions relevant to childbirth. Fifty nine items were administered to 523 women in the first year after childbirth (M = 23.7 weeks) as part of an online study of childbirth. Validity of the final scale was checked by examining differences between women with and without probable depression and PTSD. RESULTS: Principal components analysis identified 23 items representing six aspects of memory accounting for 64% of the variance. These were: Emotional memory, Centrality of memory to identity, Coherence, Reliving, Involuntary recall, and Sensory memory. Reliability was good (M alpha = .80). Women with probable depression or PTSD reported more emotional memory, centrality of memories and involuntary recall. Women with probable depression also reported more reliving, and those with probable PTSD reported less coherence and sensory memory. CONCLUSION: The results suggest the BirthMARQ is a coherent and valid measure of the characteristics of memory for childbirth which may be important in postnatal mood and psychopathology. While further testing of its reliability and validity is needed, it is a measure capable of becoming a valuable tool for examining memory characteristics in the important context of childbirth.


Assuntos
Depressão Pós-Parto/psicologia , Rememoração Mental , Parto/psicologia , Transtornos de Estresse Pós-Traumáticos/psicologia , Inquéritos e Questionários , Adolescente , Adulto , Emoções , Feminino , Humanos , Pessoa de Meia-Idade , Análise de Componente Principal , Reprodutibilidade dos Testes , Adulto Jovem
2.
Hum Genet ; 131(4): 565-79, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21996756

RESUMO

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Haplótipos/genética , Adulto , Criança , Análise por Conglomerados , Estudos de Coortes , Variações do Número de Cópias de DNA , Feminino , Genótipo , Homozigoto , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Núcleo Familiar , Polimorfismo de Nucleotídeo Único
3.
Nature ; 444(7122): 1047-9, 2006 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-17183316

RESUMO

It is now accepted that long-duration gamma-ray bursts (GRBs) are produced during the collapse of a massive star. The standard 'collapsar' model predicts that a broad-lined and luminous type Ic core-collapse supernova accompanies every long-duration GRB. This association has been confirmed in observations of several nearby GRBs. Here we report that GRB 060505 (ref. 10) and GRB 060614 (ref. 11) were not accompanied by supernova emission down to limits hundreds of times fainter than the archetypal supernova SN 1998bw that accompanied GRB 980425, and fainter than any type Ic supernova ever observed. Multi-band observations of the early afterglows, as well as spectroscopy of the host galaxies, exclude the possibility of significant dust obscuration and show that the bursts originated in actively star-forming regions. The absence of a supernova to such deep limits is qualitatively different from all previous nearby long-duration GRBs and suggests a new phenomenological type of massive stellar death.

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