Showing papers by "Princess Anne Hospital published in 1992"

Regional cerebral blood flow velocity changes after indomethacin infusion in preterm infants.

Abstract: Cerebral blood flow velocity was assessed during infusion of indomethacin over 30 minutes. Eleven preterm infants with symptomatic patent ductus arteriosus were studied on 12 occasions. Indomethacin infusion was associated with a significant reduction in time averaged mean velocity (TAMV), peak systolic velocity (PSV), and end diastolic velocity in both the anterior cerebral artery and middle cerebral artery. The fall in the TAMV and PSV was gradual with maximal change 30-40 minutes after the start of the infusion. It was concluded that administration of indomethacin by slow infusion produces haemodynamic alterations to the cerebral circulation comparable in magnitude with changes described with bolus administration. Indomethacin remains a useful and effective treatment for patent ductus arteriosus in preterm infants, but should continue to be used with caution.

Major loci for atopy

Abstract: This issue of the journal contains four linkage studies [13, 27] thai fail to replicate reports of a dominant gene for atopy on chromosome 11 [4,5]. Other studies have been negative [6,7] or equivocal [8]. The older literature has claims of dominant [9], recessive [10], and poly genie inheritance of IgE level [11], with a suggestion that allergic expression is associated with dominance [12], Environmental factors during early childhood affect the incidence and severity of allergic disorders [13]. What is the evidence for genetic determinants of atopy? It has been shown that the incidence of allergic disorders is higher in monozygotic than in dizygotic twins [14] and increases with the number of atopic relatives [15]. The levels of IgE and other immunoglobulins have heritabilities of about 50% [16]. A recessive gene for suppression of IgE response has been studied in the mouse [17]. In man the major histocompatibility locus controls some specific Igfi responses [18] and at least two rare genes in man cause severe atopy [19]. The dysregulation of IgE response in atopic individuals is clearly multifactorial, demanding genetic methods capable of resolving major loci against a poorly characterized familial background that includes both genetic and environmental components. The most powerful paradigm is linkage to a candidate locus, several of which have been suggested. At least four approaches may be attempted:

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.

Abstract: In 2 families, propositi were investigated because of mild developmental delay and, in one case, behavior disorders. Seven males in the 2 families were found to have a fragile site at Xq27.3 but the usual insert in the FMR-1 gene was absent. The affected males had mild, or in some cases, no clear intellectual impairment and did not have the Martin-Bell phenotype. Carrier females in one family tended to show a high level of cytogenetic expression of the fragile site but were clinically normal. It is not yet clear whether these families have unusual mutations in the FMR-1 gene or whether their fragile sites are different, but cytogenetically indistinguishable from, that associated with inserts in the FMR-1 gene

Neonatal nurse practitioners--a view from perfidious Albion?

Abstract: Although the professional role of neonatal nurse practitioners (NNPs) has been fully integrated into many neonatal units outside the UK over the past decade,' 2 there has to date been no such development in this country. Indeed, there have been serious reservations among members of the neonatal nursing profession concerning the introduction of NNPs given the current structure and funding of neonatal care in the UK.3 Despite these reservations, it has for several years been the view of most of the paediatricians and of many neonatal nurses within the Wessex region that the care of sick newborn infants could be improved by extending the role of the neonatal nurse. The case for extending the role has now been accepted by medical and nurse managers within the region and plans are well advanced to establish an educational course in Southampton for the development of NNPs in Wessex. In planning this radical innovation it was felt that much could be learnt, and many problems possibly avoided, by examining the training and professional role of NNPs in North America. A study visit of six selected North American neonatal units and NNP training programmes was, therefore, undertaken by a group consisting of one paediatrician and four senior neonatal nurses. The two main aims of the visit were: (i) to study the NNP training programmes and (ii) to evaluate the clinical role of NNPs working in neonatal intensive care units.

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

Abstract: We have reinvestigated 33 fragile X families using probe StB12.3. In 31 families the affected individual showed an insert while in 2 families no insert was detected. The insert fell into two size categories: small ( 0.6 kb) accompanied by methylation of an EagI site. All individuals of either sex having a small insert were fra(X) negative and intellectually normal, while all males having a large insert were fra(X) positive and intellectually impaired. Females having a large insert were either fra(X) positive or negative and either intellectually normal or impaired. No new mutation was found. All daughters of males with a small insert had a small insert; females with a large insert produced males and females who had a large insert, while females with a small insert had offspring with either a large or a small insert. However, females with a small insert tended to fall into one of two categories: either they had only children with a small insert or only children with a large insert, there being only one exception to this rule. We found four unexpected small inserts, two in unrelated spouses and two in female carriers who proved to be compound heterozygotes, indicating that they had inherited an insert from both their parents. These observations suggest that individuals with a small insert must be not uncommon in the general population

A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome.

Abstract: Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness.

Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).

Abstract: A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).

Assessment of the accuracy of cytology in women referred for colposcopy and biopsy: the results of a 1 year audit.

Abstract: The results of weekly colposcopy review meetings have been audited for 1 year and cases where there was a discrepancy between the referral cervical smear and the initial colposcopy biopsy have been analysed. New referrals (n= 476) for colposcopy were studied. In the final outcome 80% of 326 women referred for moderate or severe dyskaryosis were found to have cervical intraepithelial neoplasia (CIN) grade II or III or invasive carcinoma. Three women found to have invasive carcinoma had been referred for severely dyskaryotic smears. Twenty women were referred for smears with cell changes suggesting glandular neoplasia: five were found to have adenocarcinoma in situ, whereas eight had CIN and seven had negative biopsies. the results justify the referral policy and demonstrate the need for further investigation when initial colposcopic biopsies are negative.