380 resultados para TWINS, MONOZYGOTIC


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Dicephalus dipus dibrachius twins are a rare form of conjoined twins. An autopsy of conjoined dicephalus twins is reported. The diagnosis was performed during the pregnancy and the family received a judicial authorization for termination of pregnancy. The preterm newborn progressed to cardiac arrest and died following a court order to terminate the pregnancy. The conceptus presented two arms, two legs, a trunk, two heads, and a single umbilical cord. The two spinal columns presented vertebral fusion in the sacral region. The heart exhibited complex malformations. The external genitalia were female; and cytogenetic analysis confirmed female sex (46, XX). This analysis also corroborated the etiopathogenic hypotheses described for this abnormality, which proposes failures in embryonic formation rather than specific chromosomal alterations. Current identification of cases by ultrasound permits medical management and multidisciplinary action with the family, enabling the legal termination of pregnancy.

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The occurrence of white matter (WM) abnormalities in psychotic disorders has been suggested by several studies investigating brain pathology and diffusion tensor measures, but evidence assessing regional WM morphometry is still scarce and conflicting. In the present study, 122 individuals with first-episode psychosis (FEP) (62 fulfilling criteria for schizophrenia/schizophreniform disorder, 26 psychotic bipolar I disorder, and 20 psychotic major depressive disorder) underwent magnetic resonance imaging, as well as 94 epidemiologically recruited controls. Images were processed with the Statistical Parametric Mapping (SPM2) package, and voxel-based morphometry was used to compare groups (t-test) and subgroups (ANOVA). Initially, no regional WM abnormalities were observed when both groups (overall FEP group versus controls) and subgroups (i.e., schizophrenia/schizophreniform, psychotic bipolar I disorder, psychotic depression, and controls) were compared. However, when the voxelwise analyses were repeated excluding subjects with comorbid substance abuse or dependence, the resulting statistical maps revealed a focal volumetric reduction in right frontal WM, corresponding to the right middle frontal gyral WM/third subcomponent of the superior longitudinal fasciculus, in subjects with schizophrenia/schizophreniform disorder (n = 40) relative to controls (n = 89). Our results suggest that schizophrenia/schizophreniform disorder is associated with right frontal WM volume decrease at an early course of the illness. (c) 2012 Elsevier Ireland Ltd. All rights reserved.

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OBJECTIVE: The purpose of this study was to establish longitudinal reference ranges for fetal ultrasound biometry measurements and growth parameters in twin pregnancies. METHOD: A total of 200 uncomplicated twin pregnancies before 21 weeks of gestation were recruited for this prospective, longitudinal study. Women who abandoned follow-up, pregnancies with unknown outcomes or pregnancies with complications were excluded. Ultrasound scans were performed every three weeks, and biparietal and occipitofrontal diameters, head and abdominal circumferences, and femur diaphysis length measurements were obtained for each fetus at each visit. Estimated fetal weight, biparietal/occipitofrontal diameter, head circumference/abdominal circumference, and femur diaphysis length/abdominal circumference ratios were also calculated. Multilevel regression analysis was performed on normalized data. RESULTS: A total of 807 ultrasound examinations were performed in 125 twin pregnancies between 14 and 38 weeks of gestation (6.5 +/- 1.4 scans/pregnancy). Regression analysis demonstrated significant correlations for all variables with gestational age, namely log of the biparietal diameter (r = 0.98), log of the occipitofrontal diameter (r = 0.98), log of the head circumference (r = 0.99), log of the abdominal circumference (r = 0.98), square root of the femur length (r = 0.99), log of the estimated fetal weight (r = 0.99), biparietal/occipitofrontal ratio (r = -0.11), head/abdomen circumference ratio (r = -0.56), and log of the femur length/abdominal circumference ratio (r = 0.61). Values corresponding to the 10th, 50th, and 90th percentiles for estimated fetal weight at 28, 32, and 36 weeks, respectively, were as follows: 937, 1,096, 1,284 g; 1,462, 1,720, 2,025 g; and 2,020, 2,399, 2,849 g. CONCLUSION: In twin pregnancies, fetal ultrasound biometry measurements and growth parameters show a significant correlation with gestational age.

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Context. The Sun shows abundance anomalies relative to most solar twins. If the abundance peculiarities are due to the formation of inner rocky planets, that would mean that only a small fraction of solar type stars may host terrestrial planets. Aims. In this work we study HIP 56948, the best solar twin known to date, to determine with an unparalleled precision how similar it is to the Sun in its physical properties, chemical composition and planet architecture. We explore whether the abundances anomalies may be due to pollution from stellar ejecta or to terrestrial planet formation. Methods. We perform a differential abundance analysis (both in LTE and NLTE) using high resolution (R similar to 100 000) high S/N (600-650) Keck HIRES spectra of the Sun (as reflected from the asteroid Ceres) and HIP 56948. We use precise radial velocity data from the McDonald and Keck observatories to search for planets around this star. Results. We achieve a precision of sigma less than or similar to 0.003 dex for several elements. Including errors in stellar parameters the total uncertainty is as low as sigma similar or equal to 0.005 dex (1%), which is unprecedented in elemental abundance studies. The similarities between HIP 56948 and the Sun are astonishing. HIP 56948 is only 17 +/- 7 K hotter than the Sun, and log g, [Fe/H] and microturbulence velocity are only +0.02 +/- 0.02 dex, +0.02 +/- 0.01 dex and +0.01 +/- 0.01 km s(-1) higher than solar, respectively. Our precise stellar parameters and a differential isochrone analysis shows that HIP 56948 has a mass of 1.02 +/- 0.02 M-circle dot and that it is similar to 1 Gyr younger than the Sun, as constrained by isochrones, chromospheric activity, Li and rotation. Both stars show a chemical abundance pattern that differs from most solar twins, but the refractory elements (those with condensation temperature T-cond greater than or similar to 1000 K) are slightly (similar to 0.01 dex) more depleted in the Sun than in HIP 56948. The trend with T-cond in differential abundances (twins -HIP 56948) can be reproduced very well by adding similar to 3 M-circle plus of a mix of Earth and meteoritic material, to the convection zone of HIP 56948. The element-to-element scatter of the Earth/meteoritic mix for the case of hypothetical rocky planets around HIP 56948 is only 0.0047 dex. From our radial velocity monitoring we find no indications of giant planets interior to or within the habitable zone of HIP 56948. Conclusions. We conclude that HIP 56948 is an excellent candidate to host a planetary system like our own, including the possible presence of inner terrestrial planets. Its striking similarity to the Sun and its mature age makes HIP 56948 a prime target in the quest for other Earths and SETI endeavors.

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Background: The purpose of this study was to estimate the genetic influences on the initiation of cigarette smoking, the persistence, quantity and age-at-onset of regular cigarette use in Brazilian families. Methods: The data set consisted of 1,694 individuals enrolled in the Baependi Heart Study. The heritability and the heterogeneity in genetic and environmental variance components by gender were estimated from variance components approaches, using the SOLAR (Sequential Oligogenic Linkage Analysis Routines) computer package. The mixed-effects Cox model was used for the genetic analysis of the age-at onset of regular cigarette use. Results: The heritability estimates were high (> 50%) for smoking initiation and were intermediate, ranging from 23.4 to 31.9%, for smoking persistence and quantity. Significant evidence for heterogeneity in variance components by gender was observed for smoking initiation and age-at-onset of regular cigarette use. Genetic factors play an important role in the interindividual variation of these phenotypes in females, while in males there is a predominant environmental component, which could be explained by greater social influences in the initiation of tobacco use. Conclusions: Significant heritabilities were observed in smoking phenotypes for both males and females from the Brazilian population. These data add to the literature and are concordant with the notion of significant biological determination in smoking behavior. Samples from the Baependi Heart Study may be valuable for the mapping of genetic loci that modulate this complex biological trait.

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Photometric data in the UBV(RI)(C) system have been acquired for 80 solar analog stars for which we have previously derived highly precise atmospheric parameters T-eff, log g, and [Fe/H] using high-resolution, high signal-to-noise ratio spectra. UBV and (RI)(C) data for 46 and 76 of these stars, respectively, are published for the first time. Combining our data with those from the literature, colors in the UBV(RI) C system, with similar or equal to 0.01 mag precision, are now available for 112 solar analogs. Multiple linear regression is used to derive the solar colors from these photometric data and the spectroscopically derived T-eff, log g, and [Fe/H] values. To minimize the impact of systematic errors in the model-dependent atmospheric parameters, we use only the data for the 10 stars that most closely resemble our Sun, i.e., the solar twins, and derive the following solar colors: (B - V)(circle dot) = 0.653 +/- 0.005, (U - B)(circle dot) = 0.166 +/- 0.022, (V - R)(circle dot) = 0.352 +/- 0.007, and (V - I)(circle dot) = 0.702 +/- 0.010. These colors are consistent, within the 1 sigma errors, with those derived using the entire sample of 112 solar analogs. We also derive the solar colors using the relation between spectral-line-depth ratios and observed stellar colors, i.e., with a completely model-independent approach, and without restricting the analysis to solar twins. We find (B - V)(circle dot) = 0.653 +/- 0.003, (U - B)(circle dot) = 0.158 +/- 0.009, (V - R)(circle dot) = 0.356 +/- 0.003, and (V - I)(circle dot) = 0.701 +/- 0.003, in excellent agreement with the model-dependent analysis.

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Abstract Background Family history is among the few established risk factors for testicular germ cell tumor (TGCT). Approximately 1.4% of newly diagnosed TGCT patients report a positive family history of TGCT. Sons and siblings of TGCT patients have four- to six fold and eight- to tenfold increase in TGCT risk, respectively. In twins of men with TGCT the relative risk of testicular cancer is 37.5 (12.3-115.6). Nevertheless, information about the occurrence of TGCT in relatives of patients with extragonadal germ cell tumor is limited. Case report A 24 year-old male patient was diagnosed with a mediastinum tumor and was submitted to image-guided biopsy, which revealed a seminoma. Two months later, his non-identical asymptomatic twin brother was submitted to an elective ultrasound of the testes, which showed a left testicular mass of 4.2 cm. This patient underwent orchiectomy revealing a seminoma of the left testis. There are no other cases of seminoma or other types of cancers reported in first-degree relatives in this family. Conclusions Although familial aggregations of TGCT have been well described, to the best of our knowledge, no data concerning the association of gonadal and extragonadal germ cell tumor in relatives has been previously reported. Further investigation on this association is warranted and may help in improving our knowledge of familial pattern inheritance.

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Vortex dynamics in two different classes of superconductors with anisotropic unidirected pinning sites was experimentally investigated by magnetoresistivity measurements: YBCO−films with unidirected twins and Nb-films deposited on faceted $mathrm Al_2O_3$ substrate surfaces. For the interpretation of the experimental results a theoretical model based on the Fokker-Planck equation was used. It was proved by X-ray measurements that YBCO films prepared on (001) $mathrm NdGaO_3$ substrates exhibit only one twin orientation in contrast to YBCO films grown on (100) $mathrm SrTiO_$3 substrates. The magnetoresistivity measurements of the YBCO films with unidirected twin boundaries revealed the existence of two new magnetoresistivity components, which is a characteristic feature of a guided vortex motion: an odd longitudinal component with respect to the magnetic field sign reversal and an even transversal component. However, due to the small coherence length in YBCO and the higher density of point-like defects comparing to high-quality YBCO single crystals, the strength of the isotropic point pinning was comparable with the strength of the pinning produced by twins. This smeared out all effects caused by the pinning anisotropy. The behaviour of the odd longitudinal component was found to be independent of the transport current direction with respect to the twin planes. The magnetoresistivity measurements of faceted Nb films demonstrated the appearance of an odd longitudinal and even transversal component of the magnetoresistivity. The temperature and magnetic field dependences of all relevant magnetoresistivity components were measured. The angles between the average vortex velocity vector and the transport current direction calculated from the experimental data for the different transport current orientations with respect to the facet ridges showed that the vortices moved indeed along the facet ridges. An anomalous Hall effect, i.e. a sign change of the odd transversal magnetoresistivity, has been found in the temperature and magnetic field dependences of the Hall resisitivity of the samples. The theory developed by V.~A.~Shklovskij was used for the explanation of the experimental data. It shows very good agreement with the experiment. The temperature dependence of the even longitudinal magnetoresistivity component of the samples could be very well fitted within the theoretical approach, using for the isotropic and anisotropic pinning potential simple potential with a symmetric triangular potential wells whose depths were estimated from the experimental data.

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With life expectancies increasing around the world, populations are getting age and neurodegenerative diseases have become a global issue. For this reason we have focused our attention on the two most important neurodegenerative diseases: Parkinson’s and Alzheimer’s. Parkinson’s disease is a chronic progressive neurodegenerative movement disorder of multi-factorial origin. Environmental toxins as well as agricultural chemicals have been associated with PD. Has been observed that N/OFQ contributes to both neurotoxicity and symptoms associated with PD and that pronociceptin gene expression is up-regulated in rat SN of 6-OHDA and MPP induced experimental parkinsonism. First, we investigated the role of N/OFQ-NOP system in the pathogenesis of PD in an animal model developed using PQ and/or MB. Then we studied Alzheimer's disease. This disorder is defined as a progressive neurologic disease of the brain leading to the irreversible loss of neurons and the loss of intellectual abilities, including memory and reasoning, which become severe enough to impede social or occupational functioning. Effective biomarker tests could prevent such devastating damage occurring. We utilized the peripheral blood cells of AD discordant monozygotic twin in the search of peripheral markers which could reflect the pathology within the brain, and also support the hypothesis that PBMC might be a useful model of epigenetic gene regulation in the brain. We investigated the mRNA levels in several genes involve in AD pathogenesis, as well DNA methylation by MSP Real-Time PCR. Finally by Western Blotting we assess the immunoreactivity levels for histone modifications. Our results support the idea that epigenetic changes assessed in PBMCs can also be useful in neurodegenerative disorders, like AD and PD, enabling identification of new biomarkers in order to develop early diagnostic programs.

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The uncommon simultaneous occurrence of an exuberant, angioma-like proliferation of superficial cerebral microvessels along with absence of the kidneys has been proposed to constitute a syndromic complex for which the term "meningocerebral angiodysplasia (or angiomatosis) with renal agenesis" (MCA-RA) is being descriptively used. We observed this constellation in one of a pair of dichorionic male twins following postpartal death in the 38th week of pregnancy. General autopsy revealed rudimentary metanephric anlagen made up of few residual glomeruli, cysts lined by flattened tubular epithelium, and islands of cartilage - corresponding to renal aplastic dysplasia. Largely inconspicuous with respect to its gyral pattern, as well as the configuration of the ventricular system, the brain microscopically showed extensive replacement of the cortex by a lattice of proliferating capillaries with necrosis of the intervening parenchyma. Minute foci of calcified necrosis were scattered in the deep subcortical white matter as well, while the ventricular ependyma and the subventricular germ cell layer remained remarkably intact. The cerebellum and brain stem appeared unaffected as well. Karyotyping of skin fibroblasts indicated a normal chromosome set of 46XY without gross structural anomalies. We interpret these findings as ones apt to being reasonably accommodated within the spectrum of MCA-RA. Although exceedingly rare, accurate identification of individual cases of MCA-RA is relevant both to differential diagnosis from its prognostically different look-alike "proliferative vasculopathy and hydranencephaly-hydrocephaly" (PVHH), and to refine the nosology of unconventional pediatric vascular malformations, for which the rather nonspecific label "angiodysgenetic necrotizing encephalopathy" is still commonly used.

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Umbilical vein pulsations (UV-P) are due to various etiologies. The aim of the present study was to investigate the incidence and type of UV-P in monochorionic twins with twin-twin transfusion syndrome (TTTS).

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Clinicians and researchers have characterized early life experiences as permanent and stable influences on the personality and subsequent life experiences of an individual. Recent conceptualizations have suggested that personal and environmental factors influencing development are not deterministic. Multiple pathways into adulthood are possible. Adoption is one potential early life stressor that may illustrate the usefulness of such conceptualizations for assessing long-term effects in adulthood. Previous studies of adoption have characterized the effects of adoption into adolescence and young adulthood. The purpose of this study was to provide an initial assessment of the long-term impact of adoption. The participants were taken from the Swedish Adoption/Twin Study of Aging. From the original sample, we identified a subsample of 60 pairs of twins who were separated and reared apart, with one member being raised by a biological parent or parents and the other by an adoptive parent or parents with no biological relationship. A series of univariate and multivariate analyses were undertaken to assess the elements associated with being reared in either an adoptive home or the home of biological parent(s). The results suggest few significant effects of adoption on the adult adjustment of adoptees. In particular, the results reflect the important mediating role of childhood socioeconomic status, suggesting that the stress of adoption itself is mediated by the type of rearing environment provided by the adoption process.

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Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.