Prenatal diagnosis of a de novo unbalanced translocation (4p + ) following in vitro fertilization

We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.     

Parental response to mid-trimester therapeutic abortion following amniocentesis

This article reports the results of a retrospective study designed to examine the responses of couples to genetic amniocentesis and subsequent therapeutic abortions due to birth defects. Fourteen women and 12 men were interviewed by experienced interviewers using a structured format designed by the authors, and each interview was audiotaped for later rating. The 5 raters (all women) were instructed to independently rate each interview using forms designed by the authors to elicit information about many aspects of the participant's individual responses as well as perceptions of spouse's responses to the process of pregnancy, amniocentesis, therapeutic abortion, and sequelae. Ratings of all 5 raters were conjoined and an homogeneous narrative was constructed for each interview. Results indicate, in general, that the respondent couples coped well with this experience. In fact 70 per cent of the respondent couples described their marital relationships as becoming closer as a result of their experience. Only a few participants reported long-term deleterious effects. Most couples coped by relying on relatives, friends, and occasionally, professional counsellors. In addition, most participants in this study suggested ways to improve the medical and psychological aspects of this experience.     

45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones

Amniocyte clones from a mid-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.     

Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein

A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.     

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

Research in the War Zones of Eritrea and Northern Ethiopia

The paper engages in the discussion of conducting research in war zones, initiated in Disasters by Barakat and Ellis. It looks specifically at possibilities for research in the war zones of Eritrea and Northern Ethiopia during the 1980s, and notes the ways in which this context differs from wars in the former Yugoslavia to which Barakat and Ellis mainly refer. The authors suggest that the unique context of every internal war, and the institutional actors that converge around this context, create both the potential and the demand for particular kinds of information, especially when humanitarian programmes involving international donors are under way. De-contexualising research in war zones from the specific context in which it occurs, in order to derive general guidelines, can thus be problematic.     

THE ARMA MODELS APPLIED TO THE FLOW OF KARSTIC SPRINGS1

ABSTRACT: Autoregressive moving average (ABMA) models have been applied to study the flow series of the karstic springs of La Villa, Fuente Mayor (Spain), and Aliou (France). The theoretical meaning of the parameters involved in the model upon applying it to a simplified scheme of the emptying of a karstic aquifer is first analyzed. The types of transformations necessary to apply these models to the flow series that lack normality and have strong periodic components are also indicated, as are the advantages of this type of model and the physical significance of the parameters obtained, with respect to the standpoint of hydraulics, ranging from rather homogeneous aquifers (La Villa) to extremely karstic (Aliou), including aquifers with intermediate characteristics (Fuente Mayor).     

Comparison of Soil Extraction Isotherms of Soil Samples Saturated With Nonpolar Liquids

In multiphase systems capillary pressures play a significant role on fluid movement and retention. The facility to predict the effect of different thermal remediation strategies requires the knowledge of the effect of temperature on capillary pressure-saturation relationships in the soils. The objective of recent study was (a) to develop a technique for routinely measuring the pressure-saturation curves of soil samples saturated with a nonpolar liquid at different regulated temperatures (b) to build a database using the measured pressure-saturation curves and the physical, chemical properties of the model soils (c) to establish the dependence of nonaqueous phase liquid retention on the soil properties and the temperature. The retention curves (extraction isotherms) with nonaqueous phase liquid were determined using a modified pressure plate extractor. The wetting phase was a non-aromatic hydrocarbon distillation product. Pressure plates were designed and constructed in the laboratory of our department. The temperature was held constant at 20, 40 and 60 ^∘C. Statistical analysis was performed involving selected soil parameters and the measured nonaqueous phase liquid retention data. The results show that knowing some easily measurable soil parameters (bulk density, particle size distribution, humus and lime content) we can estimate the nonaqueous phase liquid retention of the soils. The measured “extraction isotherms” provide essential information about the temperature-dependency of pressure-saturation curves.     

The effect of an ergonomic intervention on musculoskeletal, psychosocial, and visual strain of VDT data entry work: the Polish part of the international study.

A group of routine data entry operators (female) was included in the Polish MEPS (musculoskeletal--eyestrain--psychosocial--stress) study. Before the intervention, ergonomic assessment revealed improper working conditions such as inadequate lighting, uncomfortable chairs, and lack of forearm and wrist support while medical examination revealed that trapezius muscle load along with upper arm, head and back angles were higher than advisable. Subjects complained about neck and shoulder pain, visual problems, and psychosocial conditions. The ergonomic intervention included installation of new luminaires and Venetian blinds, new chairs, repair of ventilators, and optometric corrections. The results after the intervention showed mainly improvement in chair comfort, lighting conditions, visual strain, and sitting posture. However, financial limitations did not allow satisfactory completion of the intervention leading to a mixed interpretation of the results.     

A cross-country comparison of short- and long-term effects of an ergonomic intervention on musculoskeletal discomfort, eyestrain and psychosocial stress in VDT operators: selected aspects of the international project.

Three groups of data entry female visual display terminal (VDT) workers from Norway (n = 30), Poland (n = 33) and the USA (n = 29) were compared. Before intervention, the Norwegian group reported more neck pain compared with the Polish group. The Polish group reported less shoulder pain than both the U.S. and the Norwegian groups. The clinical examination documented fewer symptoms and signs of musculoskeletal illness among the Polish participants compared with the Norwegian and the U.S. groups. After intervention, the Norwegian group reported a reduction in neck pain while the U.S. group reported a reduction in shoulder pain. The Polish group reported an increase in neck, shoulder and forearm pain at follow-up compared to after intervention. The Polish group recorded higher flexion of the upper arm at follow-up parallel with an increase of pain in the upper part of the body. Visual discomfort showed variable results in the 3 countries.