The prenatal diagnosis of the Walker-Warburg Syndrome

On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the Walker-Warburg Syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalo-cele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.     

Mining,water and human rights: making the connection

The minerals industry interacts with water in many different ways that can affect the environment and communities. In the context of emerging debates about the status of access to water as a distinct human right and the mining industry’s engagement with human rights discourses, this article highlights points of disconnection between technical, scientific and engineering-based approaches to water management on the one hand and human rights perspectives on the other. We argue that greater understanding and emphasis on the intersecting nature of water and human rights is important from a sustainable development perspective. Better connections will increase the likelihood that mining companies will respect human rights, avoid or mitigate adverse social and environmental risks that occur through their interaction with water and collaboratively identify water-related development opportunities. Discursive, organisational, political and conceptual barriers of these various disconnects are considered and strategies for strengthening points of connection provided.     

Temporal changes in blood lead levels of hazardous waste workers in New Jersey, 1984–1987

The blood lead levels of 568 New Jersey hazardous waste workers were determined at least once in the period 1984–1987. Workers almost always wore protective clothing in the field, which should have prevented exposure to lead. Therefore, despite their occupation, these workers are probably representative of the New Jersey suburban population in the mid-1980s. Blood lead levels ranged from 2.0–20.7 µg/dL, with an arithmetic mean value of 5.8 µg/dL, representing a decline from levels measured a decade earlier, but there was no clear change over the four years of the study. Blood lead levels increased with age of the worker up to age 60. Women showed lower levels than men in every age group.