Development and evaluation of RAMP I – a practitioner’s tool for screening of musculoskeletal disorder risk factors in manual handling

RAMP I is a screening tool developed to support practitioners in screening for work-related musculoskeletal disorder risk factors related to manual handling. RAMP I, which is part of the RAMP tool, is based on research-based studies combined with expert group judgments. More than 80 practitioners participated in the development of RAMP I. The tool consists of dichotomous assessment items grouped into seven categories. Acceptable reliability was found for a majority of the assessment items for 15 practitioners who were given 1?h of training. The usability evaluation points to RAMP I being usable for screening for musculoskeletal disorder risk factors, i.e., usable for assessing risks, being usable as a decision base, having clear results and that the time needed for an assessment is acceptable. It is concluded that RAMP I is a usable tool for practitioners.     

Progress in Restoration of the Mauritius Kestrel

In the 1970s, the Mauritius Kestrel ( Falco punctatus ) was the most endangered bird of prey in the world, at one time with only two known pairs surviving in the remnant native forest of the Black River Gorges (ca. 4,000 ha). At the end of the 1991–1992 breeding season, a minimum of 30 nesting pairs and more than 170 individuals were distributed in four separate forested areas, thanks mainly to manipulation of the reproductive potential of the wild pairs, to captive propagation, and to reintroduction (restocking). Since 1984, 139 young have been reared from 618 eggs laid by captive kestrels, and 147 from 265 wild eggs incubated and hatched in the laboratory; 235 young kestrels have been released on Mauritius by hacking and fostering. Adjustments in feeding and nesting habits of kestrels hacked and released outside the Black River Gorges in areas dominated by exotic vegetation and agriculture have allowed these kestrels to survive and reproduce in an array of previously unused habitats. Now that the kestrels have been released from dependence on the remnant and dying native forest, a viable population of more than 100 nesting pairs should be achievable in a few more years.     

Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Climate change in mountain regions: a marginal issue?

Summary Mountain regions comprise one-fifth of the world's land surface. They are home to a tenth and important in the lives of half of humankind. Yet mountains are often regarded as physically, politically and economically marginal; their importance has only recently been globally recognized. The potential impacts of climate change in mountain regions will vary considerably between different types of regions. These are briefly described, as an introduction to an evaluation of the potential impacts with regard to agriculture, forestry, water resources, tourism, energy, transport and health. It is concluded that climate change cannot be considered a marginal issue and that the ability of mountain and downstream people to adapt and respond in the long term will require attention to the maintenance and use of local knowledge and cooperative social networks, as well as considerable scientific research.Dr Martin Price obtained his Ph.D from the University of Colorado at Boulder, following a first degree at the University of Sheffield and an MSc from the University of Calgary, Canada. He is currently the Programme Leader for the Mountain Regions Programme at the Environmental Change Unit at the University of Oxford. This paper was presented at the Global Forum '94 Academic Conference and it represents a revision of an article by the author in Beniston (1994).     

Exencephaly in autosomal dominant brachydactyly syndrome

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of ‘anencephaly’. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.     

Fetal cholecystomegaly: A prenatal marker of aneuploidy

The fetal gall bladder can now be easily identified during the second and third trimesters using high-resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19–31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one woman underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.     

An investigation of methods for enriching trophoblast from maternal blood

Trophoblast deportation is known to occur in normal human pregnancy, but it is not yet clear whether these cells routinely enter the maternal peripheral circulation and are available as a source of fetal DNA for non-invasive prenatal diagnosis of genetic disorders. To resolve this issue requires an efficient method of enriching trophoblast from maternal blood combined with a means to confirm its identity. Five different techniques were tested on ten retroplacental blood samples to determine the most sensitive and operator-efficient method. Lysis of red cells alone gave the best recovery of trophoblast but had to be discounted, together with Ficoll density gradient centrifugation, due to the very low purity and the excessive time required. Fluorescence-activated cell sorting (FACS) of pre-enriched trophoblast resulted in the lowest recovery rate (8 per cent) despite a 3250-fold enrichment and a very high purity. Immunomagnetic beads (Dynabeads) coated with anti-CD 16 antibody proved to be the best method for the subsequent immunocytochemical characterization of deported trophoblast. However, IO beads coated with anti-CD45 antibody may be more useful for isolating trophoblast for prenatal diagnosis due to the high purity, enrichment (32-fold), and recovery rate (78 per cent) obtained with this method.     

Fetal nuchal oedema and antenatal diagnosis of trisomy 10

Trisomy 10 was detected at amniocentesis undertaken following observation of fetal nuchal oedema. This is the first report of fetal trisomy 10 in association with nuchal oedema. The physical features of fetal trisomy 10 are described.