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11.
Mary Lou C. Thelmo Randolph Y. Fok Savita P. Shertukde 《Fetal and pediatric pathology》2007,26(5):235-242
Twin reversed-arterial-perfusion syndrome (TRAPS) is a rare complication of monochorionic twin pregnancies. TRAPS is characterized by the hemodynamic dependence of a “recipient” twin from a “pump” twin. The “recipient” twin exhibits lethal abnormalities, such as acardia and acephaly. Circulatory failure of the normal twin derives from the existence of arterio-arterial and veno-venous anastomoses within the placenta that allow retrograde perfusion of the acardiac twin by blood coming from the normal twin. Acardiac twinning is the most extreme manifestation of the twin-twin transfusion syndrome. This occurs in 1 in 100 monozygotic twin pregnancies and 1 in 35,000 births. We report a case of diamnionic monochorionic female twins in which the acardiac twin demonstrated severe hydrops fetalis and bilateral talipes varus deformity. Cesarean section was performed on a 27-year-old hypertensive gravida 2, para 1 mother for fetal indications at 32 6/7 weeks gestation. The acardiac fetus had a two-vessel umbilical cord measuring 43.5 cm in length and 0.8 cm in diameter. The proximal end inserted into the root of the normal twin's umbilical cord in an acute angle forming a “v” close to the placental disc. Structures rostral to the thorax were absent except for a round mass of flesh with three small buds in place of the head and neck, and bilateral upper extremities. Only the kidneys, right adrenal, small and large intestine, and rudimentary urinary bladder were present. Both feet demonstrated talipes varus deformity. The fetus was severely hydropic. The subcutaneous fat measured 4.5 cm in maximum thickness. The normal twin had a protracted course complicated with respiratory distress syndrome, moderate secundum atrial septal defect with left to right shunt, and thrombocytopenia of prematurity. The baby was eventually discharged after approximately 1 month. At the time of this report, 5 months postpartum, the neonate is growing and developing normally. To our knowledge, this is the first report of severe hydrops fetalis and talipes varus deformity in an acardiac twin. 相似文献
12.
Age is a potential source of variation that contributes to differences between, but not within, twin pairs. In most genetic analyses of twin data, linear and other functions of age are usually removed prior to model fitting. This correction is typically applied only within twin groups of the same sex and zygosity, and no heterogeneity test of age regressions is performed. Here we include age as a variable in the model-fitting procedure and allow for tests of heterogeneity of age regressions across sex and zygosity groups. The LISREL formulation of the approach is illustrated with data collected from Australian twins on subjective impressions of drunkenness following alcohol consumption. The results indicate significant negative covariation of impressions of drunkenness with age. The data support a simple model of additive genetic and unique environmental variation. No evidence was found for sex differences in genetic or environmental components of variation.The theoretical work and data analysis described in this paper were made possible by NATO Grant 86/0823 and grants from the Belgian National Research Fund, the State University of Gent, and the Catholic University of Leuven. We are also grateful to Drs. R. Vlietinck and R. Derom for excellent organization of the successful workshop. Data collection was made possible by a grant from the Australian Associated Brewers to N.G.M. and Drs. J. G. Oakeshott, J. B. Gibson, and G. A. Starmer and by grants from the Australian National Health and Medical Research Council. The authors were supported by NIH Grants MH-40828 and AA-06781. 相似文献
13.
Summary To define the glucose to insulin dose-response relationship before the onset of diabetes, we studied 22 nondiabetic co-twins of patients with Type 1 (insulin-dependent) diabetes mellitus and nine control subjects. All had intravenous glucose tests at 0.02, 0.1 and 0.5 g/kg and were followedup prospectively for at least 6 years. Seven twins developed diabetes a mean of 7 months later; the remaining 15 are now unlikely to develop diabetes. The seven pre-diabetic twins had higher fasting insulin levels than control subjects (4.2±2.0 vs 1.8±1.8 nmol/l; p<0.05); but lower glucose clearance (1.0±0.5 vs 1.9±0.7 %/min; p<0.05), first phase insulin response at 0.5 g/kg (21.1±23.2 vs 143±50 nmol/l; p<0.0001), and total insulin responses at 0.1 g/kg (p<0.05) and 0.5 g/kg (p<0.00005). Using a curve-fitting programme, the normal glucose to insulin relationship was lost in prediabetic twins who had lower coefficient of determination (R2) than control subjects (p<0.01). In contrast, 15 low-risk twins and their nine control subjects had similar fasting glucose and insulin levels, glucose clearance, R2 and insulin secretory responses to different glucose loads. The positive predictive values of subnormal R2 and subnormal first phase insulin response were 67 % and 58 % respectively. These observations demonstrate an altered glucose to insulin dose-response relationship and loss of maximum insulin secretory response to glucose before the onset of Type 1 diabetes. 相似文献
14.
Increased heritability for lower IQ levels? 总被引:1,自引:0,他引:1
Dettermanet al. (1990) presented evidence based on twins that the heritability of IQ may be higher in the lower part of the IQ range. We first offer an alternative test for differential heritability across the IQ range, based on the analysis of absolute intrapair differences of monozygotic versus dizygotic twins. We then review two previous studies, each containing more twins than the sample of Dettermanea al., which examined the distribution of intrapair absolute differences. In contrast to the study of Dettermanet al., both yielded results more compatible with higher heritability in the upper range of IQ. We discuss various interpretations of these findings and show how our proposed test might aid in distinguishing among them. 相似文献
15.
We report on a case of keratoconus in identical twins who were brought up in Christchurch, New Zealand. Videokeratoscopy using an EyeSysa (EyeSys Laboratories, Houston, Texas, USA) revealed not only marked differences in severity of keratoconus between the sisters, but also non-equivalent cone types. Both twin sisters reported an exacerbation of their keratoconus during pregnancy and during breast feeding. Various factors affecting the development and progression of keratoconus are discussed. (Clin Exp Optom 1995; 78: 4: 125–129) 相似文献
16.
17.
Langerhans cell histiocytosis includes three clinical forms of histocytosis X. We describe a disseminated form of Langerhans cell histiocytosis (Letterer-Siwe disease) in monozygotic twins. The twins showed simultaneous onset of disease, almost identical clinical follow-up and findings on cranial CT. The cause of this phenomenon remains unknown. 相似文献
18.
Data from 2,903 adult same-sex twin pairs were analysed to investigate whether the genetic determinants of symptoms of panic are different from those underlying the neuroticism personality trait. Our results suggest that much of the genetic variation influencing the physical symptoms associated with panic is of the nonadditive type, perhaps due to dominance or epistasis. In both sexes these nonadditive genetic effects on physical symptoms influence the reporting of "feelings of panic". In males they also account for as much as half the genetic variance in neuroticism. The remainder is additive and also accounts for the balance of genetic variation in "feelings of panic". In females genetic variance in neuroticism is entirely additive but is not an important source of covariation with either panic symptom. Thus, symptoms of panic seem to be shaped in part by unique genetic influences which do not affect other anxiety symptoms. That a substantial part of the genetic variance in neuroticism in males may be due to the nonadditive effects on physical symptoms of panic may help to explain the rather low correlation between the genetic influences found to affect neuroticism in males and their counterparts in females. 相似文献
19.
Lifestyle factors in monozygotic and dizygotic twins 总被引:1,自引:0,他引:1
R F Heller D L O'Connell D C Roberts J R Allen J C Knapp P L Steele D Silove 《Genetic epidemiology》1988,5(5):311-321
In examining genetic influences on biological variables using twins, it may be important to examine the distribution between and within twin pairs of demographic and lifestyle factors that may themselves affect the biological variable being studied. We explored the distribution of demographic and lifestyle factors that may affect blood lipid levels or ischaemic heart disease (IHD) risk among a sample of 106 monozygotic (MZ) and 94 like-sex dizygotic (DZ) twin pairs. In our sample, MZ twins were statistically significantly different from DZ twins only in marital status, cigarette smoking habits, and the ratio of polyunsaturated to saturated fat (P:S ratio) in their dietary intake. The latter variable was among many dietary variables examined (using 4-day weighed food diaries), and the size of the difference in intake was small. When comparisons were made of the similarities within twin pairs, we found members of MZ twin pairs to be statistically significantly closer than DZ twins in educational achievement, occupation, cigarette smoking, and exercise habits, and the number of days a week on which alcohol was consumed. These last three variables were consistently closer among twins with closer contact than among those with a smaller degree of current shared environment. For 12 of the 13 nutrients examined, the within-pair correlations were higher for MZ than for DZ twins, although our test for significant genetic variance showed statistical significance only for intake of complex carbohydrates. We conclude that MZ twins share demographic and lifestyle factors that might influence the risk of IHD and blood lipid levels to a greater degree than do DZ twins, although it is difficult to say if these similarities in lifestyle result from genetic influences or not. Nevertheless, ascribing differences between correlations in MZ and DZ twin pairs for lipid levels as being purely "genetic"--as implicit in conventional measures of heritability--is likely to overestimate the influence of genetic factors. 相似文献
20.
Peeters MW Thomis MA Maes HH Loos RJ Claessens AL Vlietinck R Beunen GP 《Behavior genetics》2005,35(5):551-563
Purpose: To determine whether the observed phenotypic stability in explosive strength during adolescence, as measured by inter-age
correlations in vertical jump (VTJ), is mainly caused by genetic and/or environmental factors. Methods: Subjects are from the Leuven Longitudinal Twin Study (LLTS) (n = 105 pairs, equally divided over five zygosity groups). VTJ data were aligned on age at peak height velocity (APHV) to attenuate
the temporal fluctuations in inter-age correlations caused by differences in timing of the adolescent growth spurt. Simplex
models were fitted using structural equation modelling. Results: After aligning the data on APHV, the annual inter-age correlations show a clear simplex structure over a 4 year interval.
The best fitting models included additive genetic and unique environmental sources of variation. Heritability estimates ranged
between 60.8% (CI 37.7%–77.2%) and 87.3% (CI 74.2%–94.0%) for boys and between 76.5% (CI 56.7%–89.0%) and 88.6% (CI 77.8%–94.1%)
for girls. Up to 56.4% and 62.8% of the total variation at the last measurement occasion is explained by additive genetic
factors that already explained a significant amount of variation at previous measurement occasions in boys and girls respectively.
It thus can be concluded that the observed stability of explosive strength during adolescence is mainly caused by a stable
genetic influence in boys and girls. Conclusions: Additive genetic factors seem to be the main cause of the observed phenotypic stability in VTJ performance in boys and girls
during adolescence. 相似文献