In northern Europe, about 90% of patients with hereditary haemochromatosis (HH) are homozygous for a single mutation (C282Y) of the HFEgene and approximately 1 in 150 people in the general population carries this genotype. However, the clinical significance of HFE mutations remains uncertain, as is the proportion of people homozygous for C282Y who will develop clinical symptoms leading to a diagnosis of HH. A systematic review of patients with HH over a 2-year period within a defined UK region has revealed that only 1.2% of adult C282Y homozygotes have been diagnosed with iron overload and received treatment. In those in whom body iron load could be estimated, only 51% has more than 4 g iron (the diagnostic threshold for iron overload).
This study aimed to examine whether pregnant women made informed decisions based on an accurate understanding of the antenatal screening process and to explore their attitude to screening and termination of a Down syndrome fetus. Women's aspirations were the keystone that informed the development of the first strategy for antenatal screening for congenital anomalies. Semi-structured interviews were carried out with a sample of pregnant women in South Wales in 1995. A total of 34 women aged less than 35 years, who were 20 weeks pregnant, were interviewed. These women were selected because the screening policy differed between hospitals for this age group. The majority of women were not aware that screening tests were voluntary: tests were presented as routine. About half of the sample were not well informed to make decisions. Only five out of a sampling frame of 101 women refused screening; they tended to be better educated and of higher social class. All women wanted to be given the choice whether to be screened. Seven out of 34 would not terminate an affected fetus. Staff communication skills, especially in delivering risk estimate, were criticized. The survey findings supported the view that women required an information package tailored to their individual needs.
Objectives-To identify risk factors for transmission of verocytotoxin producing Escherichia coli O157 (VTECO157) and means of prevention. Study design-Outbreak investigation: retrospective cohort study. Setting-A nursery (child care centre) in North Wales. Subjects-Children attending (n = 104). Methods-Faeces were examined using sorbitol MacConkey agar (SMAC), with cefixime, tellurite, and rhamnose; enrichment in modified tryptone soya broth; and immunomagnetic separation. Symptoms and exposure data were obtained from questionnaires to parents/guardians and children's toiletting and feeding records kept at the nursery. Main outcome measure-A "case" was defined as a child with verocytotoxin producing E coli O157 isolated from faeces, or a history of haemolytic uraemic syndrome (HUS) and antibodies to E coli O157 lipopolysaccharide, during the period 10 August to 30 September 1995. Results-The attack rate was 31 in 104. Two children developed HUS. There were higher attack rates among girls and friends who played together. Cases were more likely to attend the nursery more frequently. The mean number of recorded bowel motions/child/half day was 0.51 in cases and 0.21 in well children. Child to staV ratios were high preceding and during the outbreak. Conclusions-A sick child is the most plausible source of infection with subsequent person to person transmission. The record of children's toiletting discriminated between cases and well children and might have allowed earlier detection of the outbreak. This simple record could be considered by other child care facilities as a means of giving early warning of problems with infectious intestinal diseases. (Arch Dis Child 1999;81:60-63)
Coronarv heart disease and drinking water. A search in two Finnish male cohorts for epidemiologic evidence of a water factor. J Chronic Dis 1975 ;28:259-87.
Information on parents' attitudes towards neonatal screening for cystic fibrosis (CF) and antenatal diagnosis by chorion villus biopsy (CVS) has been derived from a detailed questionnaire administered to parents of CF babies diagnosed early following newborn screening (18 babies), and later on account of clinical criteria (11 babies). Screening was by measurement of immunoreactive trypsin (IRT) on Guthrie card blood spots, which was the basis of the Wales/West Midlands IRT Screening Survey, 1985–1989. Families questioned were from Wales. Most parents supported screening: parents of 15/18 (83%) screened babies and 10/11 (91%) unscreened babies. Following antenatal diagnosis, 15/29 (52%) of families would abort a CF foetus. Neither standard of education nor social class correlated with attitudes to screening or antenatal diagnosis, although these factors were related to the parents' knowledge of CF in general. Several families emphasised the importance of minimal delay between the initial mention of the possibility of CF on IRT testing and confirmation (or otherwise) of the diagnosis. Four mothers acknowledged temporary rejection of their babies during the period of uncertainty or following the procedures of diagnosis, emphasising that neonatal screening for CF can have a psychological impact on the parent‐child bonding. Although most families supported neonatal screening for CF, this study underlines some of the difficulties which may be encountered during the procedure of screening for CF by IRT.
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