[An integrated prevention intervention for the management of SSUEm118 operator with hearing loss]. / Un intervento di prevenzione integrata per la gestione di un operatore SSUEm118 con disturbi uditivi.

Noise risk is moderate in hospital but there are some areas, as SSUEm118, where the background noise is not negligible. In this context it is important not to underestimate hearing loss even minimal, because the noise interference can cause errors of understanding, as the case in exam: an operator 118. The clinical assessment of this worker with liminar tonal audiometry and vocal audiometry revealed a mild unilateral mixed hearing loss with good voice response. The equivalent sound pressure level (Leq) throughout the SSUEm118 area is under the first attention level, the index NR is comparable to office type environments and the distance between speaker and listener for satisfactory face-to-face communication is suitable. The present study proposes a multi-multidisciplinary approach to define prevention and protection measures and health surveillance plan with audiometric testing and possible judgment of the unfitness to specific work. For this specific case advices given to SSUEm118 administrator allowed a good repositioning of the worker.

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.

OBJECTIVE: A study was conducted to explain the mechanism of an unusual discrepancy between short- and long-term culture examination methods of chorionic villus sampling (CVS). METHOD: In a 29-year-old Caucasian woman, transabdominal CVS was carried out at 12 weeks of gestation. Non-mosaic karyotype 46,XX,i(21q) was found on long-term CVS culture but number and morphology of chromosomes were normal on short-term culture, amniocyte culture, hygroma colli fluid and fetal fibroblast. RESULTS: Chromosomal aberration probably appeared after the trophoblast cell line differentiation, four days after fertilization, by means of a 21 centromere misdivision and formation of a i(21q) with secondary positive selection of the 46,XX,i(21q) cell line and loss of the 46,XX in the fetus. CONCLUSION: The restricted number of cases with this type of discrepancy limits the possibility of drawing generalised conclusions. In case of discrepancy, we recommend confirmation by amniocentesis or by fetal blood combined with sonographic examination to provide a more definitive diagnosis.

Epidermoptid mange in Laysan albatross fledglings in Hawaii.

Mange caused by the epidermoptid mite Myialges nudus (Acari: Epidermoptidae) is described in 31 dead fledgling Laysan albatrosses (Phoebastria immutabilis) from Midway Atoll (Hawaii, USA) sampled from 18 June to 10 July 1990 and from 21 June to 22 July 1991. This is the first record for this parasite from this host. Mites were collected from the skin; were located primarily in the stratum corneum; and were associated with mild to severe granulomatous inflammation, hyperkeratosis, dermal edema, ballooning degeneration of keratinocytes, neovascularization, and subdermal fibrosis. The severity of inflammation in some birds suggested that dermatitis due to M. nudus could be a significant cause of morbidity, or even mortality, in these birds.

Cartographic study: breakpoints in 1574 families carrying human reciprocal translocations.

Reciprocal translocations (rcp) are among the most common constitutional chromosomal aberrations in man. Using a European database of 1574 families carrying autosomal rcp, a cartographic study was done on the breakpoints involved. The breakpoints are non-randomly distributed along the different chromosomes, indicating "hot spots". Breakpoints of rcp that result in descendants that are unbalanced chromosomally at birth are more frequent in a distal position on chromosomal arms, and 65% of them are localised in R-bands. Among the R-bands, bands rich in GC islands and poor in Alu repetitive sequences are more frequently the site of breakpoints, as well as bands that include a fragile site. This result suggests that the variation in degree of methylation in GC islands could be involved in chromosomal breakage and hence in chromosomal rearrangements. The heterogeneity of the human chromosomal structure has been demonstrable by metaphase banding techniques since 1970. In contrast to G-bands, R-bands are sites of high gene concentration (Korenberg et al. 1978), are relatively rich in cytosine plus guanine (GC), and in Alu repetitive DNA sequences (Korenberg and Rykowski 1988). More recently Holmquist (1992) has proposed four types of R-bands, depending on their relative richness in GC and Alu DNA sequences. R-bands rich in GC correspond almost exactly to T-bands (Dutrillaux 1977). They contain 65% of all genes while they represent only 15% of the genome (Holmquist 1992). The aim of this study is to analyse the distribution of the breakpoints along chromosomes from a European database of autosomal rcp in order to relate it to the specificity of different chromosomal regions.

A survey for selected viral, chlamydial, and parasitic diseases in wild dusky-headed parakeets (Aratinga weddellii) and tui parakeets (Brotogeris sanctithomae) in Peru.

Thirty-eight free-ranging dusky-headed parakeets (Aratinga weddellii) and 13 tui parakeets (Brotogeris sanctithomae) were caught and released in Parque Nacional del Manu in southeastern Peru from 19 July to 5 August 1993. Blood and fecal samples were collected and sera were evaluated for titers to Pacheco's disease herpesvirus, psittacine polyomavirus, paramyxovirus-1, and Chlamydia psittaci. Fecal samples were examined for evidence of ascarid or coccidial infection by fecal flotation, and blood smears were examined for hemoparasites. Five (50%) of 10 A. weddellii serum samples tested by complement fixation (CF) for psittacine polyomavirus antibodies were positive, and three (19%) of 16 A. weddellii samples tested by virus neutralization (VN) for psittacine polyomavirus antibodies were positive, yielding a total of 8 (38%) of the 21 A. weddellii samples positive for psittacine polyomavirus. Based on CF for herpesvirus, four (11%) of 38 A. weddellii samples had antibodies against herpesvirus. All B. sanctithomae were negative for psittacine polyomavirus and psittacine herpesvirus. Thirty-five of the A. weddellii tested were negative for Chlamydia psittaci by CF, latex agglutination, and elementary body agglutination, and all B. sanctithomae were negative for Chlamydia psittaci by the CF test. Nine A. weddellii and eight B. sanctithomae evaluated for paramyxovirus-1 titers by the hemagglutination inhibition test were negative. All fecal samples were negative for ascarids or coccidia by fecal flotation, and all blood smears were negative for hemoparasites by direct microscopic examination. This is the first known description of psittacine polyomavirus and psittacine herpesvirus in free-ranging parrots. Serologic evidence of Pacheco's disease herpesvirus in wild A. weddellii is interesting in light of the fact that Aratinga spp. are considered to be possible carriers of this virus in captivity.

[Human familial autosomal reciprocal translocations]. / Les translocations réciproques autosomiques familiales humaines.

Reciprocal translocations are one of the most frequently observed structural chromosome abnormalities. They are defined by a segment exchange between two non-homologous chromosomes. A great number of different translocations exist since any chromosome can be involved in the translocation and the position of the breakpoint can vary. Though generally silent these translocations can be expressed in the form of reproduction failure or, more seriously, as offspring showing mental retardation/malformation syndromes. Since the risk of malformation varies from one translocation to the next, genetic counselling and prenatal diagnosis strategies should be adopted to suit the particular malformation risks of each individual translocation. This is currently not the case. Different prediction methods (for the most probable mode of unbalance at birth, the risk of unbalance at term) are presented. A computer system, called Reci-Conseil brings these different functionalities together to create a new aid for genetic counselling. The data base on which it is founded (approx 2000 families) offers interesting perspectives for genomic mapping of partial trisomies and monosomies.

Child protection in a south London district.

Jean Gilardi's study of health visitors' child protection training needs in Lewisham and North Southwark shows that 97 per cent of health visitors have been directly involved in at least one case where a child's name was on the child protection register and over 70 per cent in five cases or more. In 42 per cent of 112 cases the health visitor was the first to suspect abuse and nearly 40 per cent of health visitors had been involved in some preparation for court proceedings. The study also found that a clear majority of the health visitors felt their initial training in child protection was less than adequate.