Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Fetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin-blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion at the dermal-epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR) amplification of exon 10 and parts of the flanking introns of the gene encoding the β3 chain of laminin 5 (LAMB3) and subsequent analysis by agarose gel electrophoresis showed a more slowly migrating band in the affected fetus compared with the normal control. Nucleotide sequencing of the abnormal PCR product revealed a homozygous 77 bp duplication within the exon, resulting in a premature termination codon 250 bp downstream from the 3′ end of the duplication. Maternal DNA was heterozygous for the mutant and wild-type alleles. These findings illustrate the genetic basis of the skin disease in this case and also offer the prospects of a simple, rapid, and reliable first-trimester DNA-based prenatal, or even preimplantation, diagnostic test for future pregnancies in this family.     

Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin

An electron microscopic DOPA reaction test of fetal skin was used for the prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA). The subject was a 34-year-old Japanese woman in her second pregnancy. Her first child, born in 1982, had been previously examined and confirmed to have tyrosinase-negative OCA. The parents requested a prenatal diagnosis and we sampled skin from the upper trunk of the fetus. On conventional electron microscopy, the development of melanosomes in interfollicular melanocytes had progressed no further than stage II. Fetal skin samples incubated with L-DOPA solution indicated a lack of tyrosinase activity and showed that the melanosomes had not progressed beyond stage II. In skin samples from the trunks of three Japanese fetuses aborted for other reasons at 19–20 weeks of gestation, most premature melanosomes were further melanized to stage IV after incubation with L-DOPA solution. A prenatal diagnosis of tyrosinase-negative OCA was made. The parents requested a termination and skin biopsies of the abortus confirmed the diagnosis. This study shows that tyrosinase is normally present in melanocytes of the fetal epidermis at 20 weeks' gestation, and that the electron microscopic DOPA reaction test of a fetal skin biopsy specimen is safe and practical, and provides reliable information for making a prenatal diagnosis of tyrosinase-negative OCA in the second trimester.     

Maternal serum markers in second-trimester oligohydramnios

The levels of the maternal serum markers alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated oestriol (uE₃) in 35 pregnant women with early second-trimester oligohydramnios differed from those in a reference population of 1699 singleton pregnancies. Maternal serum AFP levels above the 95th centile of the population distribution were observed in 80 per cent (16/20) of oligohydramnios cases with a normal fetus and in only 20 per cent (3/15) of the cases with a fetus displaying urogenital tract malformations. Elevated levels of hCG (above the 95th centile) and decreased levels of uE₃ (below the fifth centile) were encountered in 26 per cent (9/35) and 17 per cent (6/35) of the women, irrespective of the fetal condition. The abnormal profile of the serum markers in early second-trimester oligohydramnios resulted in 57 per cent (20 out of 35) of screen-positive cases for either fetal Down's syndrome or neural tube defects, compared with 8·4 per cent (143 out of 1699) in the reference population.     

Fetal ductus venosus flow velocity waveforms and maternal serum afp before and after first-trimester transabdominal chorionic villus sampling

Doppler flow velocity waveform recording in the fetal ductus venosus and umbilical artery as well as maternal blood sampling for serum alpha-fetoprotein (MSAFP) was performed before and after transabdominal chorion villus sampling (TACVS) in 36 women of advanced maternal age (≥ 36 years). Gestational age ranged between 11 and 13 weeks. No chromosomal anomaly was detected. No statistically significant difference was observed in ductus venosus velocity parameters or in the umbilical artery pulsatility index (PI) before and after CVS in 35 women with a normal pregnancy outcome. One case resulted in fetal loss. Post-CVS median MSAFP levels at 12 weeks (25 kIU/1) and 13 weeks (35 kIU/1) were significantly higher than pre-CVS levels. In three cases, post-CVS MSAFP levels were higher than 600 kIU/1, correlating with feto-maternal transfusions of approximately 1.0–1.4 ml, i.e., of around 40 per cent of feto-placental blood volume. One of these cases displayed absence of fetal peripheral blood flow velocities and fetal bradycardia following TACVS, resulting in fetal loss 1 week later. The remaining two cases had a normal pregnancy outcome, but showed a more than 50 per cent reduction in ductus venosus velocity after TACVS, whereas umbilical artery PI remained unchanged. However, similar velocity changes were associated with only small feto-maternal transfusions. Umbilical artery PI values remained unchanged.     

Selenium and arsenic content of agricultural soils from Bangladesh and Nepal

Arsenic (As) contamination of the available domestic drinking water from shallow aquifers to villagers in Bangladesh often exceeds the newest WHO standard of <10 µg As L^?1 and the older Bangladeshi standard of <50 µg As L^?1. An estimated 9.2 million shallow tube wells in Bangladesh deliver water to 97% of the rural population, placing an estimated 57 million people at risk for arsenicosis. The contamination of drinking water by As extends to W. Bengal, India and Nepal. The same shallow aquifers used for domestic water are also used to irrigate food crops, particularly rice. Irrigation adds As to soils and increases exposure of the population to additional As via foods consumed. Selenium (Se), an essential trace mineral found in soils, is absorbed by plants, entering the human food chain. It was suggested that a low dietary intake of Se may be contributing to the problem of human arsenicosis in Bangladesh. Dietary Se acts as a natural antidote to As by (1) accelerating As excretion, (2) sequestering As by complexation and (3) as an antioxidant component of the enzyme glutathione peroxidase that may counteract the prooxidant effects of As that contribute to arsenicosis and cancer. Analysis of 70 agricultural soil samples from Bangladesh by fluorimetry, ICP-AES and Neutron Activation Analysis showed the soils analyzed to be high in As (～33 µg g^?1) and biologically low in soluble Se (～0.02 µg g^?1). A low dietary intake of Se related to low soil content and this mineral in foods may be contributing to human arsenicosis in the Ganges–Brahmaputra delta.     

The Student Volunteer Army: a ‘repeat emergent’ emergency response organisation

This paper seeks to contribute to understanding of the factors associated with an effective emergent emergency response organisation and to provide new insights into this understudied area. It examines, through an analysis of a range of textual resources, the emergence and re‐emergence of the Student Volunteer Army (SVA) during the devastating earthquakes in Canterbury, New Zealand, in 2010–11. This evaluation is conducted in relation to the four key features of an effective emergency response organisation: adaptability; direction; leadership; and communication. In addition, the paper aims to further understanding of ‘emergency entrepreneurship’ and thus of the values and strategies that underpin social entrepreneur organisations in times of normalcy. The paper concludes that the unique position of the SVA as a ‘repeat emergent’ emergency response organisation enabled it to innovate continually and to improve repeatedly its systems, relationships, and image, such that it exhibited features common to emergent and established emergency response organisations.     

Human rights and proactive displacement: determining the appropriate balance between the duty to protect and the right to remain

The proactive displacement by public authorities of populations from areas perceived to be exposed to a high risk of disaster presents complex human rights challenges. Provided that no ulterior motive is at play, the use of compulsory evacuations and relocations as policy responses to such risk is mandated by the duty to protect the right to life. However, proactive displacement in the interest of saving lives can be problematic as such measures can lead to the limitation of other human rights, resulting in an intricate assessment of whether compulsory evacuation or permanent relocation is proportional in any given circumstance. Such an analysis demands critical attention by public authorities to the perception of the disaster risk in question and problematises claims to objectivity of official risk assessments. Furthermore, it poses the question as to whether measures designed to address the disaster risk in question that are less intrusive than relocation may be available to public authorities.     

The changing face of public concern about pollution in the United States: A case study of New Jersey

National surveys and a survey conducted by the authors in March and April 2004 revealed that the public’s concerns about air, water and land pollution have declined during the last four years in the United States and more specifically in the State of New Jersey. In New Jersey pollution remains a major concern of most residents, even during a period of a war, anxiety about terrorism and the economy. Those most anxious about pollution do not believe that government is doing enough to protect the environment, want to maintain current environmental laws, and are worried about the future. Disproportionately they are African and White Americans, middle income, and college graduates, in other words, part of the American mainstream. Direct attempts to weaken environmental protection are likely to be resisted by this core of the population, which does not trust current federal, state and local governments to protect the environment. We expect concerns for the environment to continue and yet change as production processes in the United States continue a trend toward pollution prevention, and we wait for the public’s mental models to catch up with this evolving reality.     

Examining the impacts of disaster resettlement from a livelihood perspective: a case study of Qinling Mountains,China

Disaster resettlement, as a mitigation and preparedness measure, entails significant economic, physical, and social impacts, which continue to challenge understanding of recovery from major events, especially regarding the extent of the context and environmental efforts to rebuild livelihoods. Based on a case study of Qinling Mountains, China, this research investigates the effects of disaster resettlement from a livelihoods perspective. Methodologically, it proposes a framework that combines the pressure–state–response framework and the sustainable livelihoods approach, and it employs a structural equation model to examine how specific factors affect disaster resettlement. The results indicate that conflicts may occur during and after resettlement owing to the difference or disparity between the concerns of resettled peasants and those of the government. Consequently, the risks related to livelihoods need to be taken seriously. Effective risk communication is critical to bridge the gap between different stakeholders. The paper concludes with some practical and policy recommendations.     

Variation in prenatal cytogenetic diagnosis: Policies in 13 european countries, 1989–1991

The livebirth prevalence of autosomal chromosomal anomalies is determined by several factors, including maternal age distribution and the impact of prenatal cytogenetic diagnosis (PCD). The impact of PCD varies between countries, as the indications and the uptake vary. In a previous study we described differences in Down syndrome prevalence and the proportion of older mothers. We have now made a survey of the official PCD policies in 25 regions in 13 European countries for the period 1989–1991. In two countries, termination of pregnancy was not available. In the other 11 countries, international agreement existed on five indications: advanced maternal age, a previous child with a chromosomal anomaly, parents who are carriers of a balanced translocation, mothers who are carriers of an X-linked disorder, and malformations at ultrasound. The exact limit for advanced maternal age varied from 35 to 38 years. There was a considerable variation for the indications advanced paternal age, amniocentesis for AFP or DNA, parental anxiety, a previous child with a congenital anomaly, abnormal maternal serum markers, and exposure to radiation/chemotherapy. The PCD uptake for mothers above the maternal age limit varied from 10 to 88 per cent. International harmonization of the indications for PCD is not considered feasible at present, because of the rapid changes in PCD policies even within countries.