UK case of congenital rubella can be linked to Greek cases.
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Biomedical subjects
Publications and source records attributed to P Helms.
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BACKGROUND: Raised serum immunoglobulin E (IgE) and bronchial hyperreactivity (BHR) are risk factors for the expression of the asthma phenotype. Previous studies have reported evidence for linkage between these traits and markers on the 5q23-33 cytokine gene cluster. OBJECTIVE: To test for linkage between total serum IgE/BHR and microsatellite markers which map to the 5q23-33 region in an ethnically distinct cohort of families from Aberdeen, Scotland. METHODS: We performed a linkage study between five polymorphic markers (spanning the chromosome 5q23-33 region) and total serum IgE and BHR traits. A cohort of 67 families, who were recruited originally to study the natural history of wheeze, were clinically characterized and genotyped for D5S404, IL4, IRF-1, IL9, D5S436 markers. Linkage analyses were performed using the nonparametric Haseman-Elston algorithm for the quantitative trait log IgE, and the nonparametric LOD score (NPL-score) of the GENEHUNTER package for the qualitative traits serum IgE and BHR. RESULTS: The results of the nonparametric linkage analysis using either the Haseman-Elston algorithm or NPL-score were consistent and showed no evidence for linkage with IgE. There was also no evidence for linkage between the BHR traits (at cut-off values of PD20FEV1 < 8 mmol and 16 mmol) and any of the tested five microsatellite markers. CONCLUSIONS: This study presents evidence against the presence of a gene with a major effect on total serum IgE or BHR in the 5q23-33 region, in this ethnic group.
We report the seventh case of Mulvihill-Smith progeria-like syndrome in a 5-year-old boy with a thin, pinched face, failure to thrive, and cutaneous pigmented nevi. The patient's motor and intellectual development were normal. His immune function tests demonstrate evidence of lymphopenia with no selective loss of a major subpopulation, low immunoglobulin (Ig)G2 and IgG4 subclasses, and an absent in vitro proliferative response to pokeweed mitogen. Chromosomal mitomycin and radiation sensitivity were normal. The skin fibroblast growth in culture was slow, and the fibroblasts appeared morphologically different from normal controls in their size and large number of inclusions. In addition, primary cilia, which normally issue from the centrosome, were absent-a new finding in fibroblasts in this disorder. It remains to be seen if the relative absence of centrosomal cilia in cultured fibroblasts in early passages is a consistent finding in this progeria syndrome.
A signal processing technique has been developed to determine respiratory function parameters by processing displacement data obtained from the abdomen and the rib cage of infants using respiratory inductive plethysmography. The technique transforms time-variant signals into the frequency domain, where they are filtered to reduce unwanted signal components. The phase relationship between the abdominal displacement and the rib cage displacement is determined from the phases of the filtered signals. Flow-volume loops, which are currently of great interest in respiratory medicine, are obtained from waveforms representing respiratory tidal flow and respiratory tidal volume. The index of respiratory timing is determined from a waveform representing respiratory tidal flow. The technique has been verified by statistical comparison with data simultaneously obtained using pneumotachography in a clinical study involving 49 infants.
A key point that the UK General Medical Council addressed in its recommendations on the undergraduate medical education was the concept of 'core curriculum' (General Medical Council 1993). Although enthusiastic for the idea of reducing factual overload, many medical teachers found themselves facing the task of how to define what a core curriculum is, what should be included and why. Predictably, our initial response is to include common and important topics, but how common is common, and how does one determine the relative importance of topics? We do not claim to have unravelled all the ambiguities surrounding the subject nor to have resolved all the controversies that are inevitably encountered. We hope, however, to describe some of the principles that governed our approach and put forward some guidelines, that may contribute to the debate.
The departments of Child Health and Mental Health of Aberdeen University's Medical Faculty recently took part in a 3 month trial assessing the potential of videoconferencing as a medium for teaching students on peripheral hospital attachments. The equipment used was British Telecom's VC7000 Videoconferencing System and an ISDN2 (integrated services digital network) connection, which was installed between two sites. The locations used were a teaching room in the Royal Aberdeen Children's Hospital and the Paediatric Unit at Raigmore Hospital in Inverness. This paper describes the resources required to support the trial, the methods used to run it and the results of staff and student evaluation of the trial. Evaluation forms were completed and returned by eight members of staff and by 30 fourth- and fifth-year medical students. The results indicated that, although after this particular trial both staff and students rated the overall usefulness as low, they attributed this to technical problems and limitations specific to the type of equipment used rather than to the method itself. The overall impression was that videoconferencing with ISDN has potential as a teaching tool in the medical undergraduate course but that further improvements in image quality and voice switching are required.
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A health diary was administered for 28 consecutive days over 3 non-consecutive months to 53 children and adolescents with Cystic Fibrosis (age 11-17 years). Response rates were 96% for the first, 84% for the second and 58% for the third month. Ill health actions such as missing school or staying in bed, ranged from 0 to 21% of diary days and showed an apparent seasonal variation being highest in the month of May. Analysis of variance demonstrated significant association between health actions, use of additional medicines and disease severity although no such associations were found for worries and concerns and overall assessment of the day. Most were not very bothered by symptoms or complaints, the highest visual analogue score on a scale of 0-10 in a single patient was 2.4 for coughing. A striking finding was the disparity between perceived vulnerability and subsequent experience with predictions of common symptoms such as cough and shortness of breath scoring 4-5 times higher than actually experienced. These children and adolescents were coping very successfully with their disease although the disparity between perceived vulnerability and subsequent experience indicates some uncertainty about the effects of the disease and/or lack of understanding about medical therapy.
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Obliterative bronchiolitis (OB) continues to be a major cause of morbidity and mortality following heart-lung transplantation. We compared the incidence of death from obliterative bronchiolitis in 19 children and 72 adults following heart-lung transplantation at our institutes. The incidence of death from OB at 2 years was 38% for children compared with 17% for adults, this difference was significant (Cox-Mantel Z value = 2.243, P < 0.05). The frequency of acute lung rejection and persistent lung rejection, previously described as risk factors for OB in adults, were significantly more common in children, P = 0.004 and P = 0.001, respectively. Average forced expiratory volume in 1 s was lower in children than in adults for each 3-month period after transplantation (P < 0.001). In conclusion, identified risk factors for the development of OB were more common, and the risk of death from OB was greater in children than in adults following heart-lung transplantation.
Using a mixed longitudinal design, the incidence of injuries, and the development of flexibility and isometric strength of the upper and lower limbs were studied for 2 years in 453 élite young athletes (aged between 9 and 18 years) practising football, gymnastics, swimming or tennis. The children suffered from a low incidence of injuries. Strength and flexibility did not exert a significant role in determining injuries. The rate of injury was not significantly different between the 2 years of the study. Young swimmers showed a greater generalized flexibility. Girls were more flexible than boys between the ages of 13 to 16 years. Athletic children are able to exert greater isometric strength than normal schoolchildren. Boys diverged from the normal population at 14 years, while athletic girls were stronger at all ages. Girls were stronger than boys up to age 12, who were still increasing their muscle strength at 19 years. The average maximal isometric strength exerted in both upper and lower limbs in the four sports was not significantly different. Male gymnasts over 11 years old were significantly stronger than all other athletes.
Reported presence or absence of night cough was compared with tape recorded cough in 15 children with perennial asthma (median age, 9 years; range, 7-14) who reported troublesome nocturnal symptoms. Measurements were made and diaries kept for 7 consecutive nights. Cough was reported on 66 of 105 (66%) and recorded on 93 (90%) available nights with poor overall agreement (Cohen's coefficient of assessment, kappa +0.30, range -0.17 to +1). The poor agreement between subjective and objective assessment of an important symptom of nocturnal asthma raises questions on the validity of symptom reporting and may in part explain the not infrequent disagreement between medical and patient assessment of disease severity.
A group of 453 elite young athletes (231 boys, 222 girls) in five two year age groups from 8-16 years of age was followed up for two years in order to identify self reported injuries over that period. Four sports were studied, namely football (soccer), gymnastics, tennis, and swimming. The injury rate was low with just over half the children suffering one or more injuries per year, with the majority of those injured sustaining one injury only. Over the two year period of intensive sporting activity this amounted to less than one injury per 1000 hours of training. The highest risk of injuries was in football (67%) and the lowest in swimming (37%). Most injuries (70%) were acute and of a minor nature, although overuse injuries did require longer periods off training and competition than acute injuries (20 v 13 days). Footballers appeared to sustain more significant injuries than other sports as judged by the time required to resume training and/or competition (16 days after acute and 57 after overuse). No significant associations were found between injury rate, injury severity, sex, and pubertal status with the single exception of female gymnasts in whom more injuries occurred in the latter stages of puberty. Only four of the 453 athletes reported injury as a reason for retiring from their chosen sports. Most injuries in elite young athletes are minor, their prevalence is low and, at least in the short to medium term, do not constitute a significant health problem.
OBJECTIVE: A study was performed to produce reference standards for spirometric lung function in white children and to calculate standard deviation scores adjusted for gender and pubertal stage. METHODS: A cross sectional study was made of 772 white children aged 4.6 to 18.8 years (455 male) tested on an OHIO 840 spirometer and assessed anthropometrically and pubertally. RESULTS: Before puberty there was a linear increase in all lung function measurements with height. During puberty a sudden increase occurred, but subsequently the relationship was again linear. No simple single equation described this pattern. Advanced puberty in younger children conferred a respiratory advantage, whilst delayed puberty resulted in the converse. Girls had poorer volumes per unit height, but young girls had superior airflow/unit lung volume. In both sexes lung volumes and flows bore a constant relationship to external thoracic dimensions. CONCLUSIONS: Puberty has a dramatic effect on lung function. Regression equations for predicted values of lung function measurements and for calculation of standard deviation scores are given (with pubertal correction factors) for each gender.
Previous studies investigating the effects of training in children have been hampered in their interpretation by the confounding effects of growth and development. We followed the development of maximal aerobic power (VO2max) in 453 athletes drawn from soccer, swimming, gymnastics, and tennis. Study design was of a mixed longitudinal type with five age cohorts (8, 10, 12, 14 and 16 yr) followed for 3 consecutive years. A multilevel regression modeling procedure was used to identify the independent effects of predictor variables while accounting for the effects of growth, such as changes in body size. When age, height, and weight were controlled for, VO2max in males significantly increased with pubertal status, indicated by the coefficient value of 0.15 l/min being greater than its associated SE of 0.07 l/min. Females showed a similar pattern, with a coefficient value of 0.13 +/- 0.07 l/min, although the significant increase in VO2max (P < 0.05) found in males in the latter stages of puberty was not shown in females. Swimmers had the highest VO2max values (P < 0.001) at all ages.
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