Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings

The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses. Excluding the latter, numbers diagnosed with trisomy 21, trisomy 18, trisomy 13, and other trisomies were, respectively, 470 (72.8%), 108 (16.7%), 36 (5.6%), and 32 (5.0%). Estimated maternal age-specific birth rates for trisomy 21 were close to published values from other jurisdictions. However, comparisons with a clinically based national register of congenital anomalies suggested that 3-4% of Down syndrome births were never karyotyped, most being early neonatal deaths. There was a striking increase over the period in the proportion of cases detected prenatally, associated with increased maternal serum screening in mothers <35 years old. Over the 3 final years (1992-1994), prenatal screening followed by elective termination was estimated to reduce the birth rate in trisomy 21 by 24% in mothers aged <35 years, by 57% in older mothers, and by 35% in all mothers. The crude incidence per 1,000 births fell from 1.08 in 1990-1991 to 0.77 in 1992-1994, in spite of an upward shift in the overall maternal age distribution. For trisomies 18 and 13, the estimated overall reductions in the birth rate over the whole 5-year period were respectively, 26 and 17%. In free trisomy 18, there was a significant reduction in the sex ratio (male/female) to 0.65, in line with earlier studies.     

Bioelectrical impedance methods in clinical research: a follow-up to the NIH Technology Assessment Conference

In 1994, the National Institutes of Health (NIH) convened a Technology Assessment Conference "to provide physicians with a responsible assessment of bioelectrical impedance analysis (BIA) technology for body composition measurement." In 1997, Serono Symposia USA, Inc., organized an invited panel of scientists and clinicians, with extensive research and clinical experience with BIA, to provide an update. Panel members presented reviews based on their own work and published studies for the intervening years. Updates were provided on the single and multifrequency BIA methods and models; continued clinical research experiences; efforts toward establishing population reference norms; and the feasibility of establishing guidelines for potential diagnostic use of BIA in a clinical setting. This report provides a summary of the panel's findings including a consensus on several technical and clinical issues related to the research use of BIA, and those areas that are still in need of additional study.     

First principles investigation of singly reduced cytochrome P450.

1. The application of novel ab initio quantum mechanical methods to the states in the catalytic cycle of cytochrome P450 following the first reduction step is described. 2. A good correlation was found between the calculated energy of reduction and the experimentally determined redox potential for a range of substrate- and substrate analogue-bound systems. 3. On reduction of the haem system, the ground state of Fe remains Fe3+. On binding of a CO molecule, Fe adopts a low-spin Fe2+ state, in agreement with experiment. However, on binding of an O2 molecule, calculations indicate that the system adopts a ferric superoxide ground state, in which the Fe is in a low-spin Fe3+ state.     

Postnatal hypothermia and cold stress among newborn infants in Nepal monitored by continuous ambulatory recording.

AIMS: To describe the pattern of hypothermia and cold stress after delivery among a normal neonatal population in Nepal; to provide practical advice for improving thermal care in a resource limited maternity hospital. METHODS: The principal government funded maternity hospital in Kathmandu, Nepal, with an annual delivery rate of 15,000 (constituting 40% of all Kathmandu Valley deliveries), severe resource limitations (annual budget Pounds 250,000), and a cold winter climate provided the setting. Thirty five healthy term neonates not requiring special care were enrolled for study within 90 minutes of birth. Continuous ambulatory temperature monitoring, using microthermistor skin probes for forehead and axilla, a flexible rectal probe, and a black ball probe placed next to the infant for ambient temperature, was carried out. All probes were connected to a compact battery powered Squirrel Memory Logger, giving a temperature reading to 0.2 degree C at five minute intervals for 24 hours. Severity and duration of hypothermia, using cutoff values of core temperature less than 36 degrees C, 34 degrees C, and 32 degrees C; and cold stress, using cutoff values of skin-core (forehead-axilla) temperature difference greater than 3 degrees C and 4 degrees C were the main outcome measures. RESULTS: Twenty four hour mean ambient temperatures were generally lower than the WHO recommended level of 25 degrees C (median 22.3 degrees C, range 15.1-27.5 degrees C). Postnatal hypothermia was prolonged, with axillary core temperatures only reaching 36 degrees C after a mean of 6.4 hours (range 0-21.1; SD 4.6). There was persistent and increasing cold stress over the first 24 hours with the core-skin (axillary-forehead) temperature gap exceeding 3 degrees C for more than half of the first 24 hours. CONCLUSIONS: Continuous ambulatory recording identifies weak links in the "warm chain" for neonates. The severity and duration of thermal problems was greater than expected even in a hospital setting where some of the WHO recommendations had already been implemented.     

Delusional misidentification of inanimate objects: a literature review and neuropsychological analysis of cognitive deficits in two cases

Following a brief review of the literature on Delusions of Inanimate Doubles (DID), compared with other similar delusions, two cases are presented. Each completed a battery of tests designed to explore their cognitive abilities. In both cases, familiar and unfamiliar face-processing skills remained intact and word memory was unaffected. Their abilities to identify famous buildings and recognise unfamiliar houses were impaired. We propose that an extension of Ellis and Young's (1990) account of Capgras delusion can explain the cognitive impairments in case of DID. A comparison of the hypotheses of Staton et el. (1982), Ellis and Young (1990), and Van Lancker (1991) is also made. The last two have obvious similarities and seem to provide the best general approach. Finally, we caution the need to consider how a mood of suspiciousness may be needed to distort attribution processes that sustain delusional thinking.     

Site-dependent expression of vascular endothelial growth factor, angiogenesis and proliferation in human gastric carcinoma

To determine the role of site of tumor implantation on tumor angiogenesis, we implanted gastric cancer cells in the orthotopic (stomach) and ectopic (subcutaneous) locations in nude mice. Tumors in the stomach demonstrated greater vascularization, higher levels of vascular endothelial growth factor (VEGF) expression, and greater proliferation compared with tumors in the subcutaneous tissues. These data suggest that the relationships among the expression of VEGF, vascularization, and proliferation of human gastric cancer cells are regulated by the organ microenvironment. In addition, VEGF may provide a target for anti-angiogenic therapy for gastric cancers.     

Microcirculation of the skeletal muscle

There are certain claudications deriving from over-intense or over-prolonged muscular activity, caused by excessive tissular pressure in the fascial cavity of the leg, anterior rather than lateral. This usually occurs in young subjects who are athletic, sportive, or soldiers. The clinical symptom is a sudden jab, like a whip-crack, both painful and paretic. The direct measurement of tissular pressure, using the needle method, confirms the excess of pressure already high when the patient is resting; it rises manifestly with muscular effort and slowly falls again after it. The pressure-gradient calls for fasciotomy in hyperalgetic cases from a certain tissular pressure-gradient onwards. Phlebography has shown the venous collapse and clinical attention is often in these cases to the presence of "muscular hernia" in the leg. Clinical data are self-explanatory and Reneman recently recalled this with a case of capillaro-venular stasis, followed by an excess of permeability and the formation of interstitial oedema which has a restraining effect. Structures and functions of the microcirculation of the skeletal muscle enable us to understand the phenomena.     

Early psychiatry in Western Australia: Dr. Nicholas Langley--a born loser.

Dr. Nicholas Langley was the first recorded "psychiatric" patient in Western Australia. His story provides an insight into the difficulty experienced in managing cases of violent behaviour in a small, isolated group without facilities or expertise. Langley recovered from his symptoms, and was accepted into the local community without undue stigma. He practised as a surgeon in Fremantle, and died at the age of 35, from what was apparently a cerebrovascular accident.     

Uses of an empirically derived client typology based on level of functioning: twelve years of the CCAR

The Colorado Client Assessment Record (CCAR) is a problem checklist and level of functioning rating instrument used to describe admission to a public mental health system. A brief, non-technical summary of recent research and administrative applications involving this instrument is presented. A stable factor structure, generalizable to several diverse client populations, is reported. Scaling procedures for measuring these procedures and a client typology based on this scaling are described. The client typology is differentially related to the types of services received and the costs of treatment episodes. The typology is also used to understand differences in case mixes and lengths of stay at two state hospitals.     

Poor outlook for childhood acute lymphoblastic leukaemia with relapse.

Results of treatment in 72 children with a relapse of acute lymphoblastic leukaemia were analysed. A second remission was induced in 57 children (79%). Remission rates were significantly higher in males, and in patients with white cell counts less than 30 X 10(9)/L. The median duration of the second remission was only four months, and the median duration of survival from the time of relapse was nine months. The median duration of survival from the time of diagnosis was 27 months. Among children who suffered a relapse was a small group who had prolonged survival and prolonged second remissions. It is uncertain whether some of these may have a chance of "cure".