Mosaicism of autosomes and sex chromosomes in morphologically normal,monospermic preimplantation human embryos

We have previously detected chromosome abnormalities in human embryos whilst identifying the sex for preimplantation diagnosis of X-linked disease. In this study we assess the incidence of these abnormalities, both for sex chromosomes and autosomes 1 and 17, using dual fluorescent in situ hybridization (FISH). Sixty-nine normally fertilized embryos of good morphology at the 6–10 cell stage (day 3 post-insemination) were examined. The embryos were spread whole using HCl and Tween 20 to dissolve the cytoplasm. Thirty-four embryos were analysed for the sex chromosomes and 35 for autosomes 1 and 17. All probes were directly labelled with fluorochromes allowing analysis in 2 h. Control lymphocytes demonstrated that the probes were of high specificity. For the sex chromosomes, five embryos were mosaic (15 per cent) with the remaining 29 being uniformly XX or XY. In no case was an XX nucleus found in an otherwise XY embryo, indicating that even though mosaicism for the sex chromosomes is present, such abnormalities would not lead to a misdiagnosis of sex. For the autosomes, 16 embryos were abnormal (46 per cent); one embryo was triploid, one was monosomic for chromosome 1, and ten others were diploid mosaics (three diploid/aneuploid, three diploid/polyploid, and four diploid/haploid). A further four embryos had variable chromosome numbers in the majority of nuclei which appeared to be the result of uncontrolled mitotic division. The presence of haploidy or double monosomy, which occurred in 15 per cent of nuclei, has important implications for the diagnosis of trisomies and dominant disorders.     

Syndromes identified in fetuses with prenatally diagnosed cephaloceles

An evaluation of all fetuses from our institution with prenatally diagnosed cephaloceles was conducted to determine the frequency and spectrum of genetic syndromes associated with this abnormality. Review of the sonographic images, postnatal autopsy or pathology reports, delivery room records, paediatric neurosurgical findings, radiographs, and cytogenetic data were collected. Fifteen postnatally confirmed cases of prenatally diagnosed cephaloceles and two misdiagnosed cases were identified. Thirteen were midline occipital lesions, one was frontoparietal, and one was frontoethmoidal. Excluding microcephaly, hydrocephaly, and distortion of intracranial anatomy, 9 of 15 (60 per cent) had other associated anomalies, including two fetuses with aneuploidy. The prenatal diagnosis of a cephalocele should initiate a thorough search for other abnormalities. In this series, there were three multifactorial, two chromosomal, two sporadic, and two autosomal recessive syndromes identified. An accurate diagnosis is critical in determining the prognosis and providing appropriate genetic counselling.     

To see or not to see: does previewing a future opponent affect the contest behavior of green swordtail males (<Emphasis Type="Italic">Xiphophorus helleri</Emphasis>)?

Animals assess the fighting ability of conspecifics either by engaging in aggressive interactions or observing contests between others. However, whether individuals assess physical prowess outside the context of aggressive interactions remains unknown. We examined whether male green swordtails (Xiphophorus helleri) extract information about the fighting ability of solitary individuals via observation and whether acquiring such information elicits behavioral modifications. Contests preceded by mutual visual assessment were significantly shorter than fights where only one or neither of the two individuals was informed in advance. Focal animals initiated aggressive behavior more often against larger opponents only after previewing their adversary, indicating that swordtails can extract information about relative body size from watching solitary conspecifics. When a fighting disadvantage is perceived, observers adopt tactics that increase their probability of winning the contest.     

The prenatal determination of glucose-6-phosphatase activity by fetal liver biopsy

Two fetuses at risk for glucose-6-phosphatase deficiency had in utero liver biopsies. Analysis of each showed this enzyme activity to be in the normal range and the pregnancies continued. Neither child has any clinical or metabolic evidence of glucose-6-phosphatase deficiency.     

Hydrodynamic Modeling Improves Green River Reconnection with Floodplain Wetlands for Endangered Fish Species Recovery

We performed two‐dimensional (2D) hydrodynamic modeling to aid recovery of the endangered razorback sucker (Xyrauchen texanus) by reconnecting the Green River with its historic bottomland floodplain wetlands at Ouray National Wildlife Refuge, Utah. Reconnection allows spring flood flows to overtop the river levee every two to three years, and passively transport razorback sucker larvae to the wetlands to grow in critical habitat. This study includes (1) river hydrologic analysis, (2) simulation of a levee breach/weir, overtopping of river flood flows, and 2D flow through the wetlands using Hydrologic Engineering Center River Analysis System 2D, and (3) modeling flow and restoration scenarios. Indicators of hydrologic alteration were used to evaluate river flow metrics, in particular flood magnitudes, frequency, and duration. Results showed a target spring flow of 16,000 cfs (453 m³/s) and a levee breach elevation of 4,663 ft (1,421 m) amsl would result in a median flow >6,000 acre‐feet (7.4 million m³) over five days into the wetlands, which is adequate for razorback sucker larvae transport and rearing. Modeling of flow/restoration scenarios showed using gated water control structures and passive low‐water crossings between wetland units can provide adequate control of flow movement into and storage in multiple units. Levee breaching can be a relatively simple, cost‐effective method to reconnect rivers and historic floodplains, and hydrodynamic modeling is an important tool for analyzing and designing wetland reconnection.     

Goal striving,idiosyncratic deals,and job behavior

Two important gaps remain to be filled in the idiosyncratic deals (i‐deals) literature. First, it is unclear which employees are predisposed to seek and receive i‐deals. Second, it is unclear how employees' perceptions of whether their coworkers are receiving i‐deals affect their own i‐deal experiences. This study proposed a theoretical model suggesting that (a) three key motivational goals identified in human development research, that is, achievement, status, and communion striving, predispose employees to seek and receive i‐deals; (b) employees' perceptions of whether their coworkers are receiving i‐deals moderate these relationships; and (c) employees' i‐deals are related to their job behavior. Data collected from more than 400 working adults in Italy showed that employees' motivational goals (particularly achievement and status striving) were positively related to the levels of i‐deals they received, and that these i‐deals were in turn positively related to supervisors' assessments of their in‐role job performance, voice behavior, and interpersonal citizenship behavior. High perceptions of the extent to which coworkers received i‐deals further strengthened the relationship between status striving and employees' perceptions of their own i‐deals, highlighting a trait‐situation interactionist perspective on employees' i‐deal experiences. Copyright © 2015 John Wiley & Sons, Ltd.