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1.
Hum Fertil (Camb) ; 26(1): 2-16, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36970984

RESUMO

This article reviews the evidence regarding human oocyte cryopreservation by slow freezing and vitrification and provides evidence-based clinical and laboratory guidelines on the effectiveness and safety of these technologies. The guidelines address the stage of oocyte maturity; cryopreservation and thawing/warming using slow cooling or vitrification; techniques used for insemination of thawed/warmed oocytes; information and support counselling. These are an update of previous guidelines. The following outcome measures were examined: cryosurvival, fertilisation rate, cleavage rate, implantation and clinical pregnancy rate, miscarriage rate, live birth rate, psychosocial wellbeing, health of resulting children. This update does not include recommendations specific to fertility preservation for defined patient groups and specific ovarian stimulation regimens as they are covered in detail in recent guidance from the European Society of Human Reproduction and Embryology (ESHRE).


Assuntos
Criopreservação , Oócitos , Gravidez , Criança , Feminino , Humanos , Criopreservação/métodos , Vitrificação , Congelamento , Taxa de Gravidez
3.
Psychiatr Genet ; 19(4): 165-70, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19451863

RESUMO

BACKGROUND: Recent studies have reported large common regions of homozygosity (ROHs) that are the result of autozygosity, that is, the cooccurrence within individuals of long haplotypes that have a high frequency in the population. A recent study reports that such regions are found more commonly in individuals with schizophrenia compared with controls, and identified nine 'risk ROHs' that were individually more common in cases. Of these, four contained or neighboured genes associated with schizophrenia (NOS1AP/UHMK1, ATF2, NSF and PIK3C3). METHODS: We have applied the same methodology to a UK sample of 506 cases with bipolar disorder and 510 controls. RESULTS: There was no overall excess of common ROHs among bipolar individuals. With one exception, the haplotypes accounting for the ROHs appeared to be distributed according to the Hardy-Weinberg equilibrium. One ROH was individually more common among cases (uncorrected P = 0.0003). This ROH spanned the chromosome 2p23.3 gene ITSN2 (the gene for intersectin 2 isoform 2). However, inspection of the homozygous haplotypes and haplotype-based tests for association failed to provide a clearer understanding of why this ROH was occurring more commonly. CONCLUSION: Overall, we conclude that, in contrast with schizophrenia, common ROHs are rarely associated with susceptibility to bipolar disorder. This supports the idea that predominantly different genes are increasing susceptibility to schizophrenia and bipolar affective disorders.


Assuntos
Transtorno Bipolar/genética , Homozigoto , Estudos de Casos e Controles , Haplótipos , Heterozigoto , Humanos
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