Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

Coffin-Lowry syndrome is a rare X-linked, semi-dominant mental retardation syndrome resulting from mutations of the ribosomal S6 kinase 2 (RSK2) gene. In the present report, a male patient affected with Coffin-Lowry syndrome is shown to have a nonsense mutation of the RSK2 gene. His unaffected mother does not have this mutation in her lymphocytes. In her third pregnancy prenatal diagnosis by mutation analysis has detected gonadal mosaicism. As this is the second report of germinal mosaicism in Coffin-Lowry syndrome, the finding has important implication for genetic counselling. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of hunter syndrome

Sixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2-sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels were observed in either amniotic fluid, cells or cord blood for four female fetuses. Such fetuses are likely to be carriers expressing reduced enzyme levels. The affected male fetus had reduced enzyme activity in amniotic fluid; insufficient cells were cultured for enzyme estimation, however no enzyme activity was detected in fetal liver after termination. Eight cord blood enzyme estimations have been performed, five confirming normal male infants.     

Prenatally diagnosed non-immune hydrops caused by congenital transient leukaemia

Congenital transient leukaemia (CTL) is a haematological disorder characterized by proliferation of myeloblasts within the bone marrow and peripheral blood of affected newborns. Infants with Down syndrome are most frequently affected and although the disorder can result in fetal death due to hydrops, it typically resolves spontaneously after birth. We present a case of prenatally diagnosed fetal hydrops accompanied by splenomegaly and an enlarged, echogenic liver in a fetus identified with CTL after birth.     

First trimester serum screening for down's syndrome

Screening for Down's Syndrome has been shown to be effective at 10 weeks of pregnancy. A multicentre study (the First trimester serum screening study) has shown that there are two biochemical markers of choice at this time in pregnancy, namely pregnancy associated placental protein A (PAPP-A) and the free β-sub-unit of human chorionic gonadotrophin (free β-hCG). When used together with maternal age these two biochemical markers have an estimated detection rate of 62% and a 5% false-positive rate. The results are consistent with those obtained from a systematic review of the world literature. Other markers are less predictive of Down's syndrome though there is still some uncertainty over the value of dimeric inhibin-A at 10 weeks of pregnancy. Nuchal translucency measurement, from an ultrasound examination performed at about 10 weeks of pregnancy, is associated with Down's syndrome and is emerging as an important potential screening marker. At present there is uncertainty over its quantitative performance and performance when combined with biochemical markers. The resolution of these issues is currently the subject of active research. Ten week screening for Down's syndrome is an advance that is now technically possible though there is still insufficient information to justify its use in routine screening practice.     

Determining indoor air quality and identifying the origin of odour episodes in indoor environments

A methodology for identifying volatile organic compounds (VOC) and determining air quality of indoor air has been developed. The air samples are collected using pump samplers by the inhabitants when they perceive odorous and/or discomfort episodes. Glass multi-sorbent tubes are connected to the pump samplers for the retention of VOC. The analysis is performed by automatic thermal desorption (ATD) coupled with gas chromatography-mass spectrometry (GC/MS). This methodology can be applied in cases of sick building syndrome (SBS) evaluation, in which building occupants experience a series of varied symptoms that appear to be linked to time spent in the building. Chemical pollutants concentrations (e.g., VOC) have been described to contribute to SBS. To exemplify the methodology, a qualitative determination and an evaluation of VOC present were performed in a dwelling where the occupants experienced the SBS symptoms. Higher total VOC (TVOC) value was detected in episodes in indoor air (1.33 ( 1.53 mg/m3) compared to outdoor air (0.71 ( 0.46 mg/m3). The concentrations of individual VOCs, such as ethanol, acetone, isopropanol, 1-butanol, acetic acid, acetonitrile and 1-metoxy-2-propanol, were also higher than the expected for a standard dwelling. The external source of VOC was found to be a not declared activity of storage and manipulation of solvents located at the bottom of a contiguous building.     

What is “Chernobyl Syndrome?” The Use of Radiophobia in Nuclear Communications

This article examines the use of “radiophobia,” “Chernobyl syndrome,” “irrationality,” and other similar concepts in communications on nuclear issues. Historically, these terms have been used in two ways: to describe psychological effects among people affected by nuclear disasters such as Hiroshima or Chernobyl, and to explain the concerns of the unaffected lay public about radiation or nuclear power projects. The latter was actively used in the Soviet Union and in post-Soviet countries such as Belarus to rejects citizens’ complaints and to denounce the arguments of the anti-nuclear camp. This study argues that although the terms can legitimately be used in many situations, their use in communications about nuclear issues can be problematic.     

Symptoms prevalence among office workers of a sealed versus a non-sealed building: Associations to indoor air quality

ObjectivesAn increasing number of complaints related to time spent in artificially ventilated buildings have been progressively reported and attributed, at least in part, to physical and chemical exposures in the office environment. The objective of this research was to investigate the association between the prevalence of work-related symptoms and the indoor air quality, comparing a sealed office building with a naturally ventilated one, considering, specially, the indoor concentration of TPM, TVOCs and the main individual VOCs.MethodsA cross-sectional study was performed to compare the prevalence of sick building syndrome (SBS) symptoms among 1736 office workers of a sealed office building and 950 of a non-sealed one, both in Rio de Janeiro's downtown. The prevalence of symptoms was obtained by a SBS standardized questionnaire. The IAQ of the buildings was evaluated through specific methods, to determine the temperature, humidity, particulate matter and volatile organic compound (VOC) concentrations.ResultsUpper airways and ophthalmic symptoms, tiredness and headache were highly prevalent in both buildings. Some symptoms were more prevalent in the sealed building: “eye dryness” 33.3% and 27.1% (p: 0.01); “runny nose” 37.3% and 31.3% (p: 0.03); “dry throat” 42% and 36% (p: 0.02); and “lethargy” 58.5% and 50.5% (p: 0.03) respectively. However, relative humidity and indoor total particulate matter (TPM) concentration as well as total volatile organic compounds (TVOCs) were paradoxically greater in the non-sealed building, in which aromatic compounds had higher concentration, especially benzene. The analysis between measured exposure levels and resulting symptoms showed no association among its prevalence and TPM, TVOCs, benzene or toluene concentration in none of the buildings.ConclusionsOther disregarded factors, like undetected VOCs, mites, molds and endotoxin concentrations, may be associated to the greater prevalence of symptoms in the sealed building.