Prenatal diagnosis of fragile X in a heterozygous female fetus and postnatal follow-up

An apparently normal female infant was born after the prenatal diagnosis of fragile Xq27×28 present in about 4 per cent of amniocytes. The mildly retarded mother had been found in early pregnancy to be heterozygous for fragile X. The child, now 9 months old. showed about the same level of fragile X expression as her mother. Variations in the proportion of cells with fragile X appeared to be related to cell type and laboratory techniques. The infant's growth and development have been normal. Different techniques to induce or increase the expression of fragile X are discussed.     

Oviposition by butterflies on young leaves: Investigation of leaf volatiles

Summary Various butterflies select young foliage on which to lay their eggs; volatiles emitted by young and old leaves have been compared (by sorption enrichment, followed by GC-MS) to gauge possible qualitative and quantitative differences between the two age groups. The plants investigated are cabbage (Brassica oleracea), two milkweeds (Asclepias syriaca andA. curassavica), the bitter orange (Citrus aurantium) and the lime (C. aurantiifolia). The chemical compounds identified belong to three classes, isoprenoids, fatty acid derivatives and benzenoids. Quantitative differences were found between young and old leaves, of which a few may be characteristic of young leaves only. Thirty-four single trials withDanaus plexippus exposed to volatiles from young and old leaves are recorded.     

Trisomy 5 mosaicism detected prenatally with an affected liveborn

This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue-limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.     

Rating child passenger safety laws relative to best practice recommendations for occupant protection

Background: State laws regarding child passenger protection vary substantially.

Objectives: The objective of this study was to develop a scoring system to rate child passenger safety laws relative to best practice recommendations for each age of child.

Methods: State child passenger safety and seat belt laws were retrieved from the LexisNexis database for the years 2002–2015. Text of the laws was reviewed and compared to current best practice recommendations for child occupant protection for each age of child.

Results: A 0–4 scale was developed to rate the strength of the state law relative to current best practice recommendations. A rating of 3 corresponds to a law that requires a restraint that is sufficient to meet best practice, and a rating of 4 is given to a law that specifies several options that would meet best practice. Scores of 0, 1, or 2 are given to laws requiring less than best practice to different degrees. The same scale is used for each age of child despite different restraint recommendations for each age. Legislation that receives a score of 3 requires rear-facing child restraints for children under age 2, forward-facing harnessed child restraints for children aged 2 to 4, booster seats for children 5 to 10, and primary enforcement of seat belt use in all positions for children aged 11–13. Legislation requiring use of a “child restraint system according to instructions” would receive a score of 1 for children under age 2 and a 2 for children aged 2–4 because it would allow premature use of a booster for children weighing more than 13.6 kg (30 lb).

Conclusions: The scoring system developed in this study can be used in mathematical models to predict how child passenger safety legislation affects child restraint practices.     

Redesign of a component based on ecodesign practices: environmental impact and cost reduction achievements

This paper focuses on ecodesign and its application in the footwear industry aiming to identify how the ecodesign can be applied to the redesign of a shoe component in order to minimize the environmental impact and simultaneously reduce costs of production and assembling. The factors that influence the use of ecodesign, the benefits and the difficulties were also investigated. A longitudinal case study was developed in a company that produces shoe stiffeners. The process of ecodesign implementation and the practices of ecodesign considered during the product redesign were analyzed. A cost reduction of about 10% was observed (in relation to the use of natural fibers and polymers in its composition-31% of biomass and 69% of fossil material). Toxic materials were completely eliminated and a reduction of energy consumption was also noticed (during the injection process). The main contributions of this study are: ecodesign constructs to be further researched the conjoint analysis of technological ability and market potential in a redesign project, and the requirements to gain managerial support for a redesign project.     

Phosphorus retention in small constructed wetlands treating agricultural drainage water

The construction of artificial wetlands has become a measure increasingly applied to reduce nonpoint-source (NPS) pollution and to contribute to the restoration of eutrophic lakes and coastal waters. In a 2-yr study monitoring fluxes of particulate and dissolved phosphorus (P) in a small artificial wetland for the treatment of agricultural drainage water in Central Switzerland, water residence time was identified as the main factor controlling P retention in the system. Since most of the annual P load (62% as dissolved reactive phosphorus, DRP) was related to high discharge events, it was not average but minimum water residence time during flood events that determined the wetland's P retention. In agreement with a continuous stirred tank reactor (CSTR) model, our investigations suggest a minimum water residence time of 7 d to retain at least 50% of the bioavailable P. The investigated wetland retained only 2% of the bioavailable P, since the water residence time was shorter than 7 d during 61% of time in both years. Settling of phytoplankton rather than DRP uptake into phytoplankton limited the retention of bioavailable P. The overall retention efficiency of 23% total phosphorus (TP), corresponding to a surface related retention of 1.1 g P m(-2) yr(-1), was due to the efficient trapping of pedogenic particles.     

Plant-derived visual signals may protect beetle herbivores from bird predators

Insect herbivores often use chemical signals obtained from their food plants to deter enemies and/or attract sexual partners. Do plant-based visual signals act similarly, i.e., repel consumers' enemies and appeal to potential mates? We explored this question using the pollen-feeding beetle Pygopleurus israelitus (Glaphyridae), a specialized pollinator of Anemone coronaria's chemically defended red-morph flowers. We presented dead beetles, which had fed either on anemones or on cat food, to young domestic chicks on a red (anemone-like) or a green (leaf-like) background. We determined whether the beetles' background color and diet affected the chicks' feeding. Cuticle surface extracts from anemone-fed beetles, but not from cat food-fed beetles, contained a secondary metabolite characteristic of anemones. Latencies to the first picking up and consuming of beetles from green backgrounds were shorter than of beetles from red backgrounds. The picking up order of beetles also indicated that prey from the green background was preferred. The chicks retained this preference when re-tested, 3 days later. Handling times of anemone-fed beetles were longer than of cat food-fed beetles. A previous study showed that glaphyrids improve their mate-finding prospects by orienting to large red anemone flowers. Here, female beetles preferred cat food-fed to anemone-fed males in mate-choice assays, thus anemone-derived chemicals did not increase mating success. Instead, the combined results indicate that A. coronaria's red flowers provide a visual signal that may both deter its herbivore's predators and attract its mates. To our knowledge, this is the first experimental evidence for a potential protective role of plant-derived visual signals for insect herbivores/pollinators.     

Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P<0·03) in the incidence of DS live-births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women ≥ 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (≥37 years) alone (111:9604 versus 94:9810; P<0·06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.