870 resultados para Sib-pair Families


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A brochure describing how a family may request an autopsy from the Iowa Office of the State Medical Examiner.

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Methods Ten patients with aniridia from 3 families of Egyptian origin underwent full ophthalmologic, general and neurological examination, and blood drawing. Cerebral MRI was performed in the index case of each family. Genomic DNA was prepared from venous leukocytes and direct sequencing of all the exons and intron-exon junctions of the PAX6 gene was performed after PCR amplification. Results Common features observed in the three families included absence of iris tissue, corneal pannus with different degrees of severity and foveal hypoplasia with severely reduced visual acuity. In families 2 and 3, additional findings such as lens dislocation, lens opacities or polar cataract and glaucoma were observed. We identified two novel (c.170-174delTGGGC [p.L57fs17] and c.475delC [p.R159fs47]) and one known (c.718C>T) PAX6 mutations in the affected members of the 3 families. Systemic and neurological examination was normal in all ten affected patients. Cerebral MRI showed absence of the pineal gland in all three index patients. Severe hypoplasia of the brain anterior commissure was associated to the p.L57fs17mutation, absence of the posterior commissure to both p.R159fs47 and p.R240X, and optic chiasma atrophy and almost complete agenesis of the corpus callosum to p.R240X. Conclusions We identified two novel PAX6 mutations in families with severe aniridia from Northern Egypt, an ethnic group which is not well studied. In addition to common phenotype of aniridia and despite normal neurological examination, absence of the pineal gland was observed in all 3 index patients. The heterogeneity of brain anomalies related to PAX6 mutations is underexplored and is highlighted in this study.

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BACKGROUND: The psychological transmission of the noxious effects of a major trauma from one generation to the next remains unclear. The present study aims to identify possible mechanisms explaining this transmission among families of Holocaust Survivors (HS). We hypothesized that the high level of depressive and anxiety disorders (DAD) among HS impairs family systems, which results in damaging coping strategies of their children (CHS) yielding a higher level of DAD. METHODS: 49 CHS completed the Resilience Scale for Adults, the Hopkins Symptom Check List-25, the 13-Item Sense of Coherence (SOC) scale, and the Family Adaptability and Cohesion Scale. We test a mediation model with Family types as the predictor; coping strategies (i.e. Resilience or SOC) as the mediator; and DAD as the outcome variable. RESULTS: Results confirm that the CHS׳ family types are more often damaged than in general population. Moreover, growing in a damaged family seems to impede development of coping strategies and, therefore, enhances the occurrence of DAD. LIMITATIONS: The present investigation is correlational and should be confirmed by other prospective investigations. CONCLUSIONS: At a theoretical level we propose a mechanism of transmission of the noxious effects of a major trauma from one generation to the next through family structure and coping strategies. At a clinical level, our results suggest to investigate the occurrence of trauma among parents of patients consulting for DAD and to reinforce their coping strategies.

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In the assignment game framework, we try to identify those assignment matrices in which no entry can be increased without changing the coreof the game. These games will be called buyer¿seller exact games and satisfy the condition that each mixed¿pair coalition attains the corresponding matrix entry in the core of the game. For a given assignment game, a unique buyerseller exact assignment game with the same core is proved to exist. In order to identify this matrix and to provide a characterization of those assignment games which are buyer¿seller exact in terms of the assignment matrix, attainable upper and lower core bounds for the mixed¿pair coalitions are found. As a consequence, an open question posed in Quint (1991) regarding a canonical representation of a ¿45o¿lattice¿ by means of the core of an assignment game can now be answered

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Arising from M. A. Nowak, C. E. Tarnita & E. O. Wilson 466, 1057-1062 (2010); Nowak et al. reply. The paper by Nowak et al. has the evolution of eusociality as its title, but it is mostly about something else. It argues against inclusive fitness theory and offers an alternative modelling approach that is claimed to be more fundamental and general, but which, we believe, has no practical biological meaning for the evolution of eusociality. Nowak et al. overlook the robust empirical observation that eusociality has only arisen in clades where mothers are associated with their full-sibling offspring; that is, in families where the average relatedness of offspring to siblings is as high as to their own offspring, independent of population structure or ploidy. We believe that this omission makes the paper largely irrelevant for understanding the evolution of eusociality.

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We calculate the production of two b-quark pairs in hadron collisions. Sources of multiple pairs are multiple interactions and higher order perturbative QCD mechanisms. We subsequently investigate the competing effects of multiple b-pair production on measurements of CP violation: (i) the increase in event rate with multiple b-pair cross sections which may reach values of the order of 1 b in the presence of multiple interactions and (ii) the dilution of b versus b tagging efficiency because of the presence of events with four B mesons. The impact of multiple B-meson production is small unless the cross section for producing a single pair exceeds 1 mb. We show that even for larger values of the cross section the competing effects (i) and (ii) roughly compensate so that there is no loss in the precision with which CP-violating CKM angles can be determined.

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This study examines differences in sibling relationships among native Dutch and immigrant groups in the Netherlands. It uses a large national dataset to compare adult sibling relationships among Moroccan, Turkish, Caribbean and native Dutch groups, focusing on the varying importance of gender composition and age structure for the sibling relationship in the ethnic minority groups and the native Dutch families. Results show that, on average, ethnic minorities in the Netherlands have more involved sibling relationships in adulthood, with more contact, more emotional support, practical support (except Turks and Antilleans), a higher relationship quality, but also more conflict (among the Turks and Antilleans) compared to the Dutch. Gender constellation and hierarchical position were not of equal influence in all groups, although no clear patterns emerged.

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We use the method of Bogolubov transformations to compute the rate of pair production by an electric field in (1+1)-dimensional de Sitter space. The results are in agreement with those obtained previously using the instanton methods. This is true even when the size of the instanton is comparable to the size of the de Sitter horizon.

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We argue that production of charged black hole pairs joined by a cosmic string in the presence of a magnetic field can be analyzed using the Ernst metric. The effect of the cosmic string is to pull the black holes towards each other, opposing to the background field. An estimation of the production rate using the Euclidean action shows that the process is suppressed as compared to the formation of black holes without strings.

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This safety checklist is designed to help you protect your children and everyone else in the family, from unintentional injuries. It is designed to be an easy, room-by-room survey that will quickly point out possible dangers. When you find a hazardous situation, change it – NOW!! Of course, no checklist will identify all the possible dangers, so use this process to look for other hazards. After you have read through the listed items for a room take a few minutes to look at the room from the view-point of a child.

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SUMMARY: A top scoring pair (TSP) classifier consists of a pair of variables whose relative ordering can be used for accurately predicting the class label of a sample. This classification rule has the advantage of being easily interpretable and more robust against technical variations in data, as those due to different microarray platforms. Here we describe a parallel implementation of this classifier which significantly reduces the training time, and a number of extensions, including a multi-class approach, which has the potential of improving the classification performance. AVAILABILITY AND IMPLEMENTATION: Full C++ source code and R package Rgtsp are freely available from http://lausanne.isb-sib.ch/~vpopovic/research/. The implementation relies on existing OpenMP libraries.