Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability/developmental delay, microcephaly, cleft palate, growth delay, and hand/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14 individuals with deletions at 2q31.1 detected by microarray analysis for physical and developmental disabilities. Results: All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the HOXD cluster had hand/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the HOXD cluster, 5 of which encompassed DLX1/DLX2, none had clinically significant hand/foot anomalies. In contrast to previous reports, the individuals in our study did not display a characteristic gestalt of dysmorphic facial features. Conclusion: The absence of hand/foot anomalies in any of the individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions.

Mental health practice and the rhetoric-reality gap.

This paper had its genesis in a national project, sponsored by the English National Board for Nursing, Midwifery and Health Visiting, to explore team working within mental health practice. The project extended over a 2-year period and utilized various methods of data collection. However, this paper focused on data, from the national survey and informal interviews (based in eight regions), that addressed specific issues within the practitioner group. Of the 800 questionnaires sent out 26% were returned. Fifty-three percent of the returns were from practitioners, 14% user/carers and 33% educationalists. Our focus was that of the practitioners. This group had a response rate of 50% (i.e. 50% of the surveys sent out to practitioners were returned). A content analysis of 100 interviews was used to triangulate the data. Whilst the original brief was to explore team working the survey also highlighted data that indicated a common understanding of what mental health practitioners do and what they say they do and that, although there was a commonality of vocabulary, different practices existed between and within regions. This is the focus of this paper. We argue, from our findings, that different practice is a result of 'habitus'. Whilst practitioners reported that they subscribe to a national agreement of meaning, there is a rhetoric-reality gap: that which is said to be done is not what is, in fact, practised. At the local level we argue that working within the habitus (educationally) can address the rhetoric-reality gap. However, we recommend further studies in order to explore how working within the habitus can address this matter across regions.

Health implications of modern childhood.

Childhood has undergone many reconstructions since its 'recognition' in the 18th century. The medicalized child is rooted in eugenics, political economy and professional interests and has implication for practice. The modern child is now viewed as a stakeholder in a political sense. Childhood requires recognition in a 'health' sense if it is to survive as a category. Different medical expectations and models of childhood are likely to evolve.

Segment-specific pattern of sympathetic preganglionic projections in the chicken embryo spinal cord is altered by retinoids.

Sympathetic preganglionic neurons exhibit segment-specific projections. Preganglionic neurons located in rostral spinal segments project rostrally within the sympathetic chain, those located in caudal spinal segments project caudally, and those in midthoracic segments project either rostrally or caudally in segmentally graded proportions. Moreover, rostrally and caudally projecting preganglionic neurons are skewed toward the rostral and caudal regions, respectively, of each midthoracic segment. The mechanisms that establish these segment-specific projections are unknown. Here we show that experimental manipulation of retinoid signaling in the chicken embryo alters the segment-specific pattern of sympathetic preganglionic projections and that this effect is mediated by the somitic mesoderm. Application of exogenous retinoic acid to a single rostral thoracic somite decreases the number of rostrally projecting preganglionic neurons at that level. Conversely, disrupting endogenous synthesis of retinoic acid in a single caudal thoracic somite increases the number of rostrally projecting preganglionic neurons at that level. The number of caudally projecting neurons does not change in either case, indicating that the effect is specific for rostrally projecting preganglionic neurons. These results indicate that the sizes of the rostrally and caudally projecting populations may be independently regulated by different factors. Opposing gradients of such factors along the longitudinal axis of the thoracic region of the embryo could be sufficient, in combination, to determine the segment-specific identity of preganglionic projections.

Can nursing survive? A view through the keyhole.

Nursing in the United Kingdom is undergoing massive retrenchment. An increasing number of nurses are unable to obtain employment following qualification and agency nursing and short-term contracts are becoming the norm. Amalgamations of colleges of nursing have resulted in redundancies of nurse teachers and a significant reduction in student nursing places. The profession of nursing in the UK is in a state of crisis from which it may never recover. Nurses have generated and facilitated this situation in their self-interested quest for professional status. Essentially, nurses have turned their backs on many nursing skills and allowed others to take on the role. British nursing may find its survival through its health care assistants. Nurses in other countries should take note and take steps to safeguard the profession on an international level.

Mass transfer phenomena in an airlift reactor: effects of solids loading and temperature.

Gas holdups and volumetric mass transfer coefficients were measured in a concentric tube airlift reactor designed for the microbial desulfurization of coal. The solutions studied were comprised of an acidified basal salts solution containing thirteen different weight percentages (0 to 40) of coal (74 microm Ohio #1) at three different temperatures (30, 50, and 72 degrees C). Gas holdup epsilon(G) decreased with solids loading for the entire range studied. An enhancement in the volumetric mass transfer coefficient K(L)a with respect to that in pure solution was observed from zero to approximately 5 wt % (solids volume fraction epsilon(s) = 0.035), the maximum enhancement occurring at approximately 2 wt % (epsilon(s) = 0.014). At higher solids fractions, the mass transfer coefficient decreased with further solids additions. Gas holdups and the mass transfer coefficients increased with temperature over the studied range. The K(L)a and epsilon(G) were correlated to three process variables separately and the separate correlations combined to yield generalized correlations for the mass transfer coefficient and gas holdup for this system. The correlations may be used for design, operation, and ost estimation of such systems.

Hormone and hemodynamic responses to atrial natriuretic peptide in conscious sheep and effect of hemorrhage.

The effect of rat atrial natriuretic peptide (ANP) on basal hemodynamic and hormonal function and on the response to acute hemorrhage was studied in eight conscious sheep. ANP infusions (3 micrograms/kg BW bolus, followed by 50 ng/kg.min for 70 min) increased plasma immunoreactive ANP levels from less than 12 pmol/liter to steady state levels of 523 +/- 20 pmol/liter, reduced arterial pressure by 14% (P less than 0.002), increased heart rate by 26% (P less than 0.06), and increased plasma norepinephrine levels (P less than 0.015) compared to control values. These changes were associated with a significant increase in plasma cortisol (P less than 0.05) and smaller increases in plasma ACTH and arginine vasopressin (AVP), but plasma angiotensin II (AII) and aldosterone were unaffected. When hemorrhage (15 ml/kg BW over 10 min) was performed during ANP or control infusions, hypotension was greater (P less than 0.0004) during ANP treatment and the responses of plasma ACTH, AVP, catecholamines, and AII were enhanced compared with those to control hemorrhage. Plasma immunoreactive ANP during ANP infusions was significantly higher after hemorrhage (mean, 833 +/- 46; P less than 0.003), but the disappearance rate after the termination of ANP infusion was the same (3.1 min) with or without hemorrhage. These studies show that ANP infusions, achieving plasma levels observed in pathological states such as congestive heart failure, inhibit the expected responses of plasma AII and aldosterone to mild acute hypotension, but do not inhibit the responses of plasma AVP, ACTH, AII, and aldosterone associated with acute moderate hemorrhage in conscious sheep.

Incidence of ovulation in the years after the menarche.

Urine for the analysis of pregnanediol was collected weekly for 3 months from 209 menstruant women aged 11-24 years who lived with their parents and from 59 women aged 17-23 years who had left the parental home. Menstrual cycles were classed as ovulatory if the 24-h pregnanediol output in the 12 days preceding menstruation was greater than or equal to 5 mumol on a single occasion or if the total excreted on 2 days, 1 week apart, was greater than or equal to 7 mumol. In the first group, ovulatory incidence increased with menarchal age. Unfailing ovulation occurred in 22.9, 25.0, 44.8, 42.9, 63.2, 71.8 and 82.6% of those who were less than 1, 1- less than 2, 2- less than 3, 3- less than 4, 4- less than 5, 5-8 and 9-12 years from menarche. Comparable figures for the women who lived in flats and hostels were 40.0% (menarchal age, 5-8 years) and 78.6% (9-12 years). It is concluded that a regular pattern of ovulatory menstrual cycles is established in most young women within 5 years of the menarche, and that departure from the family home is often associated with a regression to a juvenile pattern of anovulatory menstrual cycles.

Influence of human skin surface lipids on protection time of topical mosquito repellent.

Skin surface lipids were extracted from volunteers who had been ranked according to the duration of protection from mosquitoes by diethyltoluamide. These lipids were analyzed by GLC-mass spectrometry for their fatty acid contents. Correlations were found between total skin lipid content and protection time of diethyltoluamide and between certain fatty acid concentrations in the skin lipids and the protection time of diethyltoluamide.