Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Paleoecology and dynamics of forest ecosystems in Central Evenkia during the past 2400 years

New data on the composition of surface assemblages of plant macroremains from soil and swamp samples have been obtained in the study of geomorphologically different localities in the middle reaches of the Nizhnyaya Tunguska River. The results of paleocarpological analysis of forest soil sections supported by relevant palynological and geochronological data are presented. Natural changes of the forest cover over the past 2400 years and quantitative characteristics of the paleoclimate during each stage are described.Translated from Ekologiya, No. 1, 2005, pp. 3–10.Original Russian Text Copyright © 2005 by Koshkarova, Koshkarov.     

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.     

Towards a smallholder hydrology for equitable and sustainable water management

Situations of water scarcity challenge sustainability and threaten small users' access to water. In response to this problem, there has been a search for a method of hydrological analysis that can better represent the needs of small water users. While this search is rooted in the debate favouring a more participatory and inclusive allocation of the resource, it also requires a new focus on smallholder hydrology that can confront the gaps and biases found in current hydrological practices in many countries. This article looks at past hydrological practices and also at results of recent studies, highlighting the perspective of smallholder irrigators in surface water planning in Zimbabwe, and groundwater planning in India. These case studies show that wider social forces, not always best science, drive hydrological practices. However, new frameworks focusing on the water user can emerge for more equitable and sustainable water management.     

Design and validation of a practical index for trauma assessment

In the past 20 years a variety of indices have been suggested for measuring the severity of trauma, however none of them meets the requirement of being a simple and objective instrument that can be utilized efficiently by lay persons and providers of health services without previous experience in triaging. A new system has been proposed which meets this requirement and which has been validated with 197 injured persons at the emergency ward of the Valle University Hospital in Call, Colombia. The instrument showed a high level of concordance with the conventional triaging method and classifies victims into four categories: critical with recovery unlikely, critical but recoverable, moderately serious, and ambulatory. There is discussion on the reliability of this instrument and it is recommended that it be validated with victims from larger disasters. Regardless, it has the advantage of being specific and free of the subjectivity that characterizes other indices.