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1.
Questionnaire surveys, while more economical, typically achieve poorer response rates than interview surveys. We used data from a national volunteer cohort of young adult twins, who were scheduled for assessment by questionnaire in 1989 and by interview in 1996-2000, to identify predictors of questionnaire non-response. Out of a total of 8536 twins, 5058 completed the questionnaire survey (59% response rate), and 6255 completed a telephone interview survey conducted a decade later (73% response rate). Multinomial logit models were fitted to the interview data to identify socioeconomic, psychiatric and health behavior correlates of non-response in the earlier questionnaire survey. Male gender, education below University level, and being a dizygotic rather than monozygotic twin, all predicted reduced likelihood of participating in the questionnaire survey. Associations between questionnaire response status and psychiatric history and health behavior variables were modest, with history of alcohol dependence and childhood conduct disorder predicting decreased probability of returning a questionnaire, and history of smoking and heavy drinking more weakly associated with non-response. Body-mass index showed no association with questionnaire non-response. Despite a poor response rate to the self-report questionnaire survey, we found only limited sampling biases for most variables. While not appropriate for studies where socioeconomic variables are critical, it appears that survey by questionnaire, with questionnaire administration by telephone to non-responders, will represent a viable strategy for gene-mapping studies requiring that large numbers of relatives be screened.  相似文献   

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The death of a twin during pregnancy or around birth gives rise to a bewildering confusion of thoughts and feelings that can impede mourning and disturb the bereaved mother''s care of a surviving twin. Every effort should be made to give the parents and siblings an experience of the dead baby. Photographs especially can reduce confusion and assist reality testing and thus facilitate the grieving process and improve the care of the surviving twin.  相似文献   

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The Fanconi anemia (FA) pathway plays an important role in DNA repair. In a recent issue of Cell, Smogorzewska et al. (2007) now demonstrate that FANCD2 has a paralog, FANCI. FANCI and FANCD2 form the "ID" complex that loads onto chromatin after DNA damage. Like FANCD2, monoubiquitination of FANCI requires the FA core complex. Importantly, FANCI and FANCD2 monoubiquitination is co-dependent, suggesting a novel mechanism in ubiquitin conjugation.  相似文献   

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In this paper we review the evidence that fetuses gestated with a male co-twin are masculinized in development, perhaps due to the influence of prenatal androgens: the so-called twin testosterone transfer (TTT) hypothesis. Evidence from studies of behavioral, perceptual, cognitive, morphological and physiological traits in same- and opposite-sex human twins is considered. Apart from two studies reporting increases in aspects of sensation-seeking for females with a male rather than a female co-twin, there is sparse evidence supporting the TTT hypothesis in behavioral studies. Outcomes from studies of perception (in particular otoacoustic emissions) and cognition (in particular vocabulary acquisition and visuo-spatial ability) provide more consistent evidence in support of masculinized performance in twins with a male co-twin compared to twins with a female co-twin. The outcomes favorable to the TTT hypothesis for otoacoustic emissions and visuo-spatial ability are restricted to females. Studies of physiology and morphology (e.g., brain volume, tooth size and 2D:4D ratio) also show some influence of co-twin sex, but again these effects are often restricted to female twins. Because females produce little endogenous testosterone, the effects of gestation with a male co-twin may be more pronounced in females than males. Thus, while uneven, the evidence for the TTT hypothesis is sufficient to warrant further investigation, ideally using large samples of same- and opposite-sex twins, along with control groups of same- and opposite-sex siblings when the characteristics assessed are potentially open to social influences.  相似文献   

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Nearly all twin registers are based in developed countries and there is no twin register in the developing world. Our objectives were to initiate the process of establishing a nationwide twin register in Sri Lanka by starting a volunteer register first and working towards a population-based register. Regular newspaper advertisements, feature articles, radio talks, and television programmes were used to publicise a competition for twins, their parents/relatives and friends requesting them to participate by sending in details of twins. The competition ran from 28 March 1997 for a period of 3 months. It offered prizes for three winners selected by drawing lots. Advertisements highlighted the objective of the competition as establishing a twin register for future research and emphasised that informed consent would be obtained for individual research projects. Those who registered comprise 4602 twin pairs (same sex: male--1564, female--1885; different sex--1153), 80 sets of triplets (same sex: male--17, female--31; different sex--42) and two sets of quadruplets (different sex). The oldest twins, triplets, quadruplets are 85, 46, and 5 years old, respectively; 88.0% of twins are less than 30 years old. Although others have previously used media publicity to enrol twins in twin registers, we believe this to be the first time that twins have been enrolled through competition. We have more young twins, and our gender and zygosity proportions after applying Weinburg's rule do not match the proportions expected from a volunteer twin sample. Establishing a twin register for research purposes has proved possible in a developing country.  相似文献   

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RNA double cleavage by a hairpin-derived twin ribozyme   总被引:4,自引:4,他引:0  
The hairpin ribozyme is a small catalytic RNA that catalyses reversible sequence-specific RNA hydrolysis in trans. It consists of two domains, which interact with each other by docking in an antiparallel fashion. There is a region between the two domains acting as a flexible hinge for interdomain interactions to occur. Hairpin ribozymes with reverse-joined domains have been constructed by dissecting the domains at the hinge and rejoining them in reverse order. We have used both the conventional and reverse-joined hairpin ribozymes for the design of a hairpin-derived twin ribozyme. We show that this twin ribozyme cleaves a suitable RNA substrate at two specific sites while maintaining the target specificity of the individual monoribozymes. For characterisation of the studied ribozymes we have evaluated a quantitative assay of sequence-specific ribozyme activity using fluorescently labelled RNA substrates in conjunction with an automated DNA sequencer. This assay was found to be applicable with hairpin and hairpin-derived ribozymes. The results demonstrate the potential of hairpin ribozymes for multi-target strategies of RNA cleavage and suggest the possibility for employing hairpin-derived twin ribozymes as powerful tools for RNA manipulation in vitro and in vivo.  相似文献   

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The objective of this study was to estimate how much of an individual's appreciation of humour is influenced by genetic factors, the shared environment or the individual's unique environment. A population-based classical twin study of 127 pairs of female twins (71 monozygous (MZ) and 56 dizygous (DZ) pairs) aged 20-75 from the St Thomas' UK Adult Twin Registry elicited responses to five 'Far Side' Larson cartoons on a scale of 0-10. Within both MZ and DZ twin pairs, the tetrachoric correlations of responses to all five cartoons were significantly greater than zero. Furthermore, the correlations for MZ and DZ twins were of similar magnitude and in some cases the DZ correlation was greater than that of the MZ twins. This pattern of correlations suggests that shared environment rather then genetic effects contributes to cartoon appreciation. Multivariate model-fitting confirmed that these data were best explained by a model that allowed for the contribution of the shared environment and random environmental factors, but not genetic effects. However, there did not appear to be a general humour factor underlying responses to all five cartoons and no effect of age was seen. The shared environment, rather than genetic factors, explains the familial aggregation of humour appreciation as assessed by the specific 'off the wall' cognitive type of cartoons used in this study.  相似文献   

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A case is presented of twin gestation in which one gestational sac was completely resorbed and the remaining twin was subsequently found to be sirenomelic. First-trimester prenatal ultrasound examination demonstrated a second gestational sac that disappeared 2 weeks later. The sonographic features that led to the diagnosis of sirenomelia in the remaining fetus included severe renal dysgenesis, persistently apposed lower extremities, and absence of fibulae. Postmortem examination, including angiographic studies of the fetus, revealed caudal dysgenesis and a single umbilical artery that arose from the abdominal aorta. Sirenomelia occurs more frequently in twin gestations than in singletons. This case suggests that the association between twinning and sirenomelia may be greater than is currently recognized. Two hypotheses are given to explain this association.  相似文献   

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Autism is considered by many to be the most strongly genetically influenced multifactorial childhood psychiatric disorder. In the absence of any known gene or genes, the main support for this is derived from family and twin studies. Two recent studies (Greenberg et al. 2001; Betancur et al. 2002) suggested that the twinning process itself is an important risk factor in the development of autism. If true, this would have major consequences for the interpretation of twin studies. Both studies compared the number of affected twin pairs among affected sib pairs to expected values in two separate samples of multiplex families and reported a substantial and significant excess of twin pairs. Using data from our epidemiological study in Western Australia, we investigated the possibility of an increased rate of autism in twins. All children born between 1980 and 1995 with autism, Asperger syndrome, or pervasive developmental disorder not otherwise specified (PDD-NOS) were ascertained. Of the 465 children with a diagnosis, 14 were twin births (rate 30.0/1,000) compared to 9,640 children of multiple births out of a total of 386,637 births in Western Australia between 1980 and 1995 (twin rate weighted to number of children with autism or PDD per year 26.3/1,000). These data clearly do not support twinning as a substantial risk factor in the etiology of autism. We demonstrate that the high proportion of twins found in affected-sib-pair studies can be adequately explained by the high ratio of concordance rates in monozygotic (MZ) twins versus siblings and the distribution of family size in the population studied. Our results are in agreement with those of two similar studies by Croen et al. (2002) in California and Hultman et al. (2002) in Sweden.  相似文献   

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Estimates suggest up to 15% of multiples grow up as singleton survivors. Few studies have reported how bereaved multiple birth mothers with a surviving multiple cope with their bereavement. Using the population-based Western Australian Twin Child Health study database and other sources, we interviewed 66 bereaved mothers with at least one surviving multiple. For many, this contact was the first acknowledgement of their status as multiple birth mothers since their loss. The Beck Depression Inventory 2nd Edition (BDI) showed significant reduction in depression between the time of loss and our interview. For mothers as a group there was a high correlation between current and retrospective BDI, and retrospective BDI and all three Perinatal Grief Scales (PGS). There was a significant correlation between the three grief factors on the PGS. When subdivided, this held for mothers who suffered a loss at or before the neonatal period, but not for those whose loss occurred later. Bereaved mothers of multiples scored significantly higher on the PGS than the PGS norm for bereaved mothers of singletons, which we attribute to others not acknowledging their grief, and/or recruitment differences. There were no significant differences in PGS scores related to cause, the time since death, or sibling number or age. Spiritual beliefs and finding meaning in loss were positively related to scores for adjustment and acceptance. Although traumatised, most mothers accommodated their losses meaningfully in their lives. Their own support recommendations are included.  相似文献   

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2003 年,圈养大熊猫“梅梅”首例哺育成活一胎二仔,通过对其近半年的育幼行为观察,结果发现:1) 母兽主要以同时衔2 仔、同时衔和抱2 仔二种方式将幼仔抱入怀中哺育;60 d 内, 育幼姿势以坐位为主,倦卧其次, 其它姿势更少, 其中坐位随日龄增加逐渐减少, 倦卧变化不大。2) 母兽活动时间在产仔当天最多, 之后显著下降并维持在35.2 ± 0.6% 的低水平, 47 d 后再缓慢上升到108 d 后的54.8 ± 0.9% 。3) 双胞胎幼仔间哺乳的日均次数和时间无显著差异。4) 7 d 内2 幼仔“仔在母身上” 的时间占100%, 21 ~ 23 d 后显著减少, 而“母体盖仔”、“仔在母身边”和“母仔自然分离”的时间显著增加, 但“母体盖仔” 的时间在32 d 左右后又显著减少;双胞胎分别在与母兽的此四种位置变化的时间上无显著差异。5) 母兽的活动、幼仔哺乳日均次数、“母仔自然分离”在全天的日均时间分布有峰、谷变化。6) 随幼仔活动能力的逐渐增强,幼仔离“育幼窝”的距离也逐渐增加,双胞胎幼仔离“育幼窝”的远近也有差别。7)母兽分别与其雄性双胞胎幼仔玩耍的时间有显著差异,而两幼仔自玩的时间无差异,此两双胞胎自玩和一起玩耍所用时间远大于分别与母兽玩耍的时间。该研究丰富了大熊猫育幼行为内容,并为以后的大熊猫双胞胎育幼提供了可供参考的行为资料。  相似文献   

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