Mosaicism for trisomy 12: Four cases with varying outcomes

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

Context dependency and generality of fever in insects

Fever can reduce mortality in infected animals. Yet, despite its fitness-enhancing qualities, fever often varies among animals. We used several approaches to examine this variation in insects. Texas field crickets (Gryllus texensis) exhibited a modest fever (1 °C increase in preferred body temperature, T _pref) after injection of prostaglandin, which putatively mediates fever in both vertebrates and invertebrates, but they did not exhibit fever during chronic exposure to heat-killed bacteria. Further, chronic food limitation and mating status did not affect T _pref or the expression of behavioural fever, suggesting limited context dependency of fever in G. texensis. Our meta-analysis of behavioural fever studies indicated that behavioural fever occurs in many insects, but it is not ubiquitous. Thus, both empirical and meta-analytical results suggest that the fever response in insects ‘is widespread, although certainly not inevitable’ (Moore 2002). We highlight the need for future work focusing on standardizing an experimental protocol to measure behavioural fever, understanding the specific mechanism(s) underlying fever in insects, and examining whether ecological or physiological costs often outweigh the benefits of fever and can explain the sporadic nature of fever in insects.     

Changes in functional structure of soil bacterial communities due to fungicide and insecticide applications in canola

The fungicide vinclozolin and insecticide λ-cyhalothrin are widely used to control canola (Brassica spp.) diseases and insect pests, respectively, in Canada. We investigated non-target effects of these pesticides, applied at recommended rates, on soil microbial biomass, functional bacterial diversity and functional community structure of soil bacteria (by evaluating patterns of C substrate utilization) in canola rhizosphere and bulk soil at three locations in Alberta from 2002 to 2004. Experimental treatments were (a) untreated control, (b) vinclozolin fungicide foliar application, (c) λ-cyhalothrin insecticide foliar application, and (d) vinclozolin and λ-cyhalothrin applications. No significant pesticide effects on soil microbial biomass or functional bacterial diversity were observed, but the functional structures of soil bacteria were altered. In 1 of 12 cases, the control treatment had a different soil bacterial community structure from the 3 pesticide treatments. The fungicide treatment had different bacterial community structures from the control or insecticide treatments in 3 of 12 cases, the insecticide treatment had different community structures from the control or fungicide treatments in 4 of 12 cases, and the combined fungicide and insecticide treatment had different community structures from the other treatments in 3 of 12 cases. Therefore, evaluating soil bacterial functional structures revealed pesticide effects that were not detected when bacterial diversity or microbial biomass were measured in canola rhizosphere or bulk soil.     

European scale application of atmospheric reactive nitrogen measurements in a low-cost approach to infer dry deposition fluxes

A European scale network was established in 2006 as part of the NitroEurope Integrated Project to infer reactive nitrogen (Nr) dry deposition fluxes, based on low-cost sampling of gaseous and aerosol species and inferential modelling. The network provides monthly measurements of NH₃, NH₄⁺, HNO₃ and NO₃⁻, as well as SO₂, SO₄²⁻, HCl, Cl⁻ and base cations at 58 sites. Measurements are made with an established low-cost denuder methodology (DELTA) as a basis to: (1) examine temporal trends and spatial patterns across Europe, (2) improve and calibrate inferential modelling techniques to estimate exchange of Nr species, (3) provide best estimates of atmospheric dry N deposition, and (4) permit an analysis of net GHG exchange in relation to atmospheric and agricultural N inputs at the European scale. Responsibility for measurements is shared among seven European laboratories. An inter-comparison of the DELTA implementation by 6 laboratories at 4 test sites (Montelibretti, Italy; Braunschweig, Germany; Paterna, Spain and Auchencorth, UK) from July to October 2006 provided training for the laboratories and showed that good agreement was achieved in different climatic conditions (87% of laboratory site-means within 20% of the inter-laboratory median). Results obtained from the first year of measurements show substantial spatial variability in atmospheric Nr concentrations, illustrating the major local (NH₃) and regional (HNO₃, NO₃⁻, and NH₄⁺) differences in Nr concentrations. These results provide the basis to develop future estimates of site-based Nr dry deposition fluxes across Europe, and highlight the role of NH₃, largely of agricultural origin, which was the largest single constituent and will dominate dry Nr fluxes at most sites.     

Soil microbial response to herbicides applied to glyphosate-resistant canola

Adoption of glyphosate-resistant canola (Brassica napus L.) has increased glyphosate applications to this crop, and concerns have been raised about unintended consequences of these multiple applications. A field trial was conducted to evaluate the effects of pre-seed and in-crop glyphosate and alternative herbicides on soil microbial community functional structure, diversity and biomass. Pre-seed treatments were 2,4-D, glyphosate and 2,4-D + glyphosate, and in-crop treatments were glyphosate applied once, glyphosate applied twice, ethalfluralin, ethalfluralin + sethoxydim + ethametsulfuron + clopyralid, and sethoxydim + ethametsulfuron. Rhizosphere and bulk soil was collected at flowering stage of canola and analyzed for bacterial community-level substrate utilization patterns and microbial biomass C (MBC). Where differences were significant, pre-seed application of both 2,4-D and glyphosate altered the functional structure and reduced the functional diversity of soil bacteria, but increased MBC. These effects were not necessarily concurrent. The reduction in functional diversity was due to reduction in evenness, which means that the soil where both pre-seed herbicides had been applied was dominated by only few functional groups. In 1 year, two in-crop applications of glyphosate also reduced the functional diversity of soil bacteria when applied after pre-seed 2,4-D, as did in-crop sethoxydim + ethametsulfuron following pre-seed glyphosate. Even though significant differences between herbicides were fewer than non-significant differences, i.e., there were no changes in soil microbial community structure, diversity or biomass in response to glyphosate or alternative herbicides applied to glyphosate-resistant canola in most cases, the observed changes in soil microbial communities could affect soil food webs and biological processes.     

Validating an evidence-based, self-rated fall risk questionnaire (FRQ) for older adults

Background

Falls are a common, serious, and often unrecognized problem facing older adults. The objective of this study was to provide an initial clinical and statistical validation for a public health strategy of fall risk self-assessment by older adults using a Fall Risk Questionnaire (FRQ).

Methods

Adults age 65 + (n = 40) were recruited at a Los Angeles Veterans Affairs (VA) medical facility and at a local assisted living facility. Participants completed the FRQ self-assessment and results were compared to a “gold standard” of a clinical evaluation of risks using the American/British Geriatrics Society guidelines to assess independent predictors of falls: history of previous falls, fear of falling, gait/balance, muscle weakness, incontinence, sensation and proprioception, depression, vision, and medications. For the comparison, we used an iterative statistical approach, weighing items based on relative risk.

Results

There was strong agreement between the FRQ and clinical evaluation (kappa = .875, p < .0001). Individual item kappa values ranged from .305-.832. After dropping one FRQ item (vision risk) because of inadequate agreement with the clinical evaluation (kappa = .139, p = .321), the final FRQ had good concurrent validity.

Conclusions

The FRQ goes beyond existing screening tools in that it is based on both evidence and clinical acceptability and has been initially validated with clinical examination data. A larger validation with longitudinal follow-up should determine the actual strength of the FRQ in predicting future falls.     

Effects of significant damage of flame gap surfaces in flameproof electrical apparatus on flame gap efficiency

Electrical apparatus for use in the presence of explosive gas atmospheres has to be specially designed to prevent the apparatus from igniting the gas. Flameproof design is one of several options, and one requirement is then that any holes and slits in the enclosure wall be designed to prevent a possible gas explosion inside the enclosure from being transmitted to an explosive gas cloud outside it. Current standards (IEC) require that joint surfaces have a surface roughness of <6.3 μm. Any damaged joint surface has be restored to this quality. The present investigation has demonstrated that flame gap surfaces in flameproof electrical apparatuses can suffer considerable mechanical and corrosive damage before the flame gaps no longer function satisfactorily. In some cases very significant mechanical surface damage in fact improves the gap performance. This indicates that current high costs of repairing and replacing flameproof electrical apparatus in process plants offshore and onshore can be reduced considerably without any increase of the explosion risk.     

The nature of the redshift and directly observed quasar statistics

The nature of the cosmic redshift is one of the most fundamental questions in modern science. Hubble's discovery of the apparent Expansion of the Universe is derived from observations on a small number of galaxies at very low redshifts. Today, quasar redshifts have a range more than 1000 times greater than those in Hubble's sample, and represent more than 100 times as many objects. A recent comprehensive compilation of published measurements provides the basis for a study indicating that quasar observations are not in good agreement with the original predictions of the Expanding Universe theory, but are well fit by the predictions of an alternative theory having fewer adjustable parameters.