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Biomedical subjects

N Butler

Publications and source records attributed to N Butler.

At least 19 recordsLinked to original sources

4.0 Tesla magnetic resonance imaging of brainstem lesions with ocular motility deficits.

The authors studied six patients with brainstem ocular motility deficits with 4.0 Tesla (T) magnetic resonance imaging to investigate whether a higher field strength would produce superior images compared with 1.5T. In four patients whose lesions were evident on 1.5T, the increased signal-to-noise achieved with 4.0T allowed for better resolution at 1-mm slice thickness than was achieved at the standard 5-mm slice thickness with 1.5T. In the two patients with unremarkable 1.5T scan results, 4.0T also failed to demonstrate a lesion. Therefore, 4.0T imaging has superior resolution to 1.5T imaging and can provide more detailed images of lesions identified by 1.5T.

Adolescent↗

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1. RESULTS: the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy. DISCUSSION AND CONCLUSIONS: 18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.

Adult↗

Investigation into the increase in hay fever and eczema at age 16 observed between the 1958 and 1970 British birth cohorts.

OBJECTIVE: To investigate whether changes in certain perinatal and social factors explain the increased prevalence of hay fever and eczema among British adolescents between 1974 and 1986. DESIGN: Two prospective birth cohort studies. SETTING: England, Wales, and Scotland. SUBJECTS: 11,195 children born 3-9 March 1958 and 9387 born 5-11 April 1970. MAIN OUTCOME MEASURES: Parental reports of eczematous rashes and of hay fever or allergic rhinitis in the previous 12 months at age 16. RESULTS: The prevalence of the conditions over the 12 month period increased between 1974 and 1986 from 3.1% to 6.4% (prevalence ratio 2.04 (95% confidence interval 1.79 to 2.32)) for eczema and from 12.0% to 23.3% (prevalence ratio 1.93 (1.82 to 2.06)) for hay fever. Both conditions were more commonly reported among children of higher birth order and those who were breast fed for longer than 1 month. Eczema was more commonly reported among girls and hay fever among boys. The prevalence of hay fever decreased sharply between social classes I and V, increased with maternal age up to the early 30s, and was lower in children whose mothers smoked during pregnancy. Neither condition varied significantly with birth weight. When adjusted for these factors, the relative odds of hay fever (1986 v 1974) increased from 2.23 (2.05 to 2.43) to 2.40 (2.19 to 2.63). Similarly, the relative odds of eczema rose from 2.02 (1.73 to 2.36) to 2.14 (1.81 to 2.52). CONCLUSIONS: Taken together, changes between cohorts in sex, birth weight, birth order, maternal age, breast feeding, maternal smoking during pregnancy, and father's social class at birth did not seem to explain any of the observed rise in the prevalence of hay fever and eczema. However, correlates of these factors which have changed over time may still underlie recent increases in allergic disease.

Adolescent↗

Sports participation and emotional wellbeing in adolescents.

BACKGROUND: Regular physical activity may have psychological benefits. Our study assessed the association between extent of participation in regular sport or vigorous recreational activity and emotional wellbeing in adolescents aged 16 years. METHODS: Data were collected from a cohort of adolescents, born between April 5 and April 11, 1970, in England, Scotland, and Wales, who took part in the follow-up assessment at age 16 years. Emotional wellbeing was assessed by the general health questionnaire (GHQ) and the malaise inventory (divided into psychological and somatic subscales). Information was obtained about participation in ten team and 25 individual sports and vigorous recreational activities during the previous year. Non-vigorous recreations, such as darts and snooker, were assessed separately. Social class and health status (recent illness and use of hospital services) were included in our analyses as possible confounding factors. 2223 boys and 2838 girls with a mean age of 16.3 years (SD 0.38) were included in our analysis. Statistical analysis was by multiple linear and logistic regression. FINDINGS: The sport and vigorous recreational activity index was positively associated with emotional wellbeing independently of sex, social class, health status, and use of hospital services. These associations were significant for the psychological symptom subscale of the malaise inventory (regression coefficient -0.024, 95 percent Cl -0.036 to -0.011, p<0.001) and the GHQ (odds ratio of emotional distress per unit increase in vigorous physical activity 0.992, 95 percent Cl 0.985-0.998, p<O.O1). By contrast, participation in non-vigorous activities was associated with high psychological and somatic symptoms on the malaise inventory. INTERPRETATION: We conclude that emotional wellbeing is positively associated with extent of participation in sport and vigorous recreational activity among adolescents. Although causal associations cannot be assumed in this cross-sectional analysis, our results are consistent with experimental evidence that vigorous exercise has favourable effects on emotional state.

Adolescent↗

Study of the aetiology of wheezing illness at age 16 in two national British birth cohorts.

BACKGROUND: Data from two national British birth cohorts were used to measure the increase in prevalence of wheezing illness at age 16 between 1974 and 1986, and to investigate the role of several potential risk factors in the increase. METHODS: The occurrence of self-reported asthma or wheezy bronchitis within the past year, and the frequency of attacks of wheezing illness at age 16, were compared in 11,262 and 9266 children born in one week of 1958 and 1970, respectively. The effects of several putative risk factors for asthma--including birth weight, maternal age, birth order, breast feeding, maternal smoking in pregnancy, child's personal smoking, and father's social class--on the change in occurrence of wheezing illness at age 16 were assessed by multiple logistic regression. RESULTS: The annual period prevalence of asthma or wheezy bronchitis at age 16 increased from 3.8% in 1974 to 6.5% in 1986 (prevalence ratio (PR) = 1.71, 95% CI 1.52 to 1.93). The proportion of children experiencing attacks more than once a week increased from 0.2% to 0.7% (PR = 3.77, 95% CI 2.28 to 6.23). The prevalence of self-reported eczema and hayfever within the past year doubled between 1974 and 1986, suggesting that the increase in asthma was part of a general increase in the prevalence of atopic disease. However, in the complete dataset, after adjustment for the effects of the risk factors studied, the prevalence odds ratio for asthma or wheezy bronchitis in 1986 compared with 1974 was virtually unchanged from the unadjusted value at 1.77 (95% CI 1.46 to 2.15). CONCLUSION: The prevalence of wheezing illness in British teenagers increased by approximately 70% between 1974 and 1986. This increase appears to have occurred in the context of a general increase in atopic disease and was largely unexplained by changes in the distribution of maternal age, birth order, birth weight, infant feeding, maternal smoking, active smoking by the child, or father's social class.

Adolescent↗

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

The objective of this study was to fully characterize the macular dystrophy phenotype and genotype in a large family of the Zermatt area of Switzerland. Clinical and molecular studies of the family included a comprehensive eye examination and a mutational analysis of the RDS, rhodopsin, and TIMP-3 genes. In selected cases, fluorescein angiography, perimetry, and electroretinography were performed. Forty-two family members at risk of expressing the maculopathy were studied. Of these, 24 were found to be clinically affected. The severity of macular disease in these patients was clearly age-related and different stages of progression were identified. Central pigmentary alterations were seen in adolescent patients, while patients in their late teens and twenties exhibited drusen-like deposits. Later, these defects formed focal areas of atrophy which eventually led to central geographic atrophy with severe visual loss by the fifth decade and cone-rod dysfunction. The transmission of this condition is autosomal dominant with complete penetrance. The underlying genetic defect is a mutation in codon 172 of the RDS/peripherin gene, a gene expressed in both rods and cones, which results in the substitution of tryptophan for an arginine residue at that position. 'Zermatt macular dystrophy' is a dominant, age-related, progressive macular dystrophy which in later stages resembles atrophic age-related macular degeneration. The size of the family studied allowed definition of the clinical spectrum of this condition and identification of the related genetic defect which allows more precise diagnosis and counseling.

Adult↗

Rehabilitation of ten soldiers with exertional rhabdomyolysis.

This case study describes the rehabilitation of 10 active duty U.S. soldiers with exertional rhabdomyolysis. The pathophysiology of rhabdomyolysis is discussed. The initial management is concerned with accurate diagnosis and monitoring of laboratory values to prevent complications. Active and passive range of motion, strength, and induration were used as indicators of recovery. The goal of rehabilitation was to safely return patients to their basic training units without activity restrictions as quickly as possible. All 10 soldiers were able to pass the Army Physical Fitness Test at the end of their training cycle. For those patients with rhabdomyolysis who desire to return to a high level of function, close monitoring of exercise intensity appears to allow for a safe, expedient return to previous levels of function. This description of a rare disorder will increase awareness and stimulate discussion so that more specific guidelines for rehabilitation can be developed.

Adolescent↗

Reversible hepatic dysfunction in association with cyclophosphamide therapy.

A 5.5-year-old child with nephrotic syndrome was treated with cyclophosphamide. After 9 weeks of therapy she developed jaundice and abnormal liver function tests. No infective aetiology was found and the abnormal liver function tests resolved within 5 weeks of discontinuing cyclophosphamide. Cyclophosphamide has rarely been reported to cause liver dysfunction, but not in children treated for nephrotic syndrome, and paediatricians should therefore be aware of its potential for inducing reversible hepatic dysfunction.

Child, Preschool↗

Prospective study of risk factors for early and persistent wheezing in childhood.

The object of this study was to determine the relative importance of low birth weight, preterm birth, low maternal age, household size, exposure to maternal smoking, personal smoking at 16 yrs of age, early termination of breastfeeding and socioeconomic status in the aetiology of wheezing illness in the first 5 yrs of life, and on the persistence of this illness at 16 yrs of age. In 15,712 children born in Britain during one week of April 1970, the occurrence of wheezing by 5 yrs of age, and of wheezing in the past year at 16 yrs of age within this group were analysed in multivariate logistic regression against each potential risk factor. The independent determinants of wheezing by 5 yrs of age were male sex, maternal smoking during pregnancy (odds ratio (OR) for 15+ cigarettes.day-1 = 1.39; 95% confidence interval (95% CI) 1.22-1.58) and low birthweight (OR for birthweight < 2.5 kg = 1.26; 95% Cl 1.07-1.50). Of children who had wheezed by 5 yrs of age, 15% reported wheezing in the past 12 months at 16 yrs of age. The persistence of symptoms at 16 yrs of age was independently related to low maternal age (OR for 20 vs 40 yrs of age = 1.96; 95% CI 1.08-3.45) and to high social status (OR for most vs least advantaged = 1.95; 95% CI 1.13-3.38). We conclude that low birth weight and maternal smoking in pregnancy are independent risk factors for early childhood wheezing, but in 85% of children with early wheezing it resolves by 16 yrs of age.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

A high incidence of asthma and respiratory symptoms in 4-11 year old children.

A study assessing the prevalence of respiratory symptoms in two primary schools in Birmingham, U.K. was performed. A questionnaire was delivered to pupils in both schools after which three open days were conducted in one of the schools, where probable asthmatics were identified and referred to their General Practitioner, Chest Clinic or a school asthma clinic. In this school 49% of responders and 52.9% in the control school were symptomless on questionnaire: 31% and 20.8%, respectively, had probable asthma, falling to 20% and 15.5% if a positive response to the question on recent recurrent wheeze was disregarded as indicating asthma. Using the total population as a denominator, the overall asthma prevalence was 20% which is significantly higher compared to previous English rates. Forty-two were seen at the Chest Clinic, 14 being followed for more than two visits. None were on regular anti-asthma treatment initially; 12/14 were taking prophylactic treatment on follow-up. In the two schools, 10.0% and 14.2% of responders were 'chesty' with 'colds' having no other typical asthmatic symptoms: these children should be studied further. This high incidence of respiratory symptoms in primary school children could represent a national trend or just a local increase.

Ambulatory Care Facilities↗

Child behavior and accidental injury in 11,966 preschool children.

Social and behavioral characteristics of 11,966 British children, aged 5 years, and mothers' reports of accidental injuries between birth and age 5 years were analyzed. Aggressive behavior was associated with all accidental injuries after controlling psychosocial variables including social class; crowding; mother's psychological distress, age, and marital status; and child's sex. Overactivity was associated only with injuries not resulting in hospitalization after control of the covariates. The relative risk of injuries resulting in hospitalization was 1.9 among children with both high activity and high aggression scores compared with children with low scores on both behavioral scales. The findings support the inference that aggression and overactivity are independently associated with accidents. The associations between child behavior and injuries were stronger than the associations between injuries and the social factors including social class and crowding. This finding suggests that interventions aimed at high-risk groups may be effective supplements to environmental interventions.

Accident Proneness↗

The influence of family type on children's behaviour and development at five years.

Development and behaviour at five years were assessed in children from a national cohort; comparisons were drawn between those living in one-parent families, in step-parent families and with both natural parents. On average, children from one-parent families scored worst and children from two-parent families best on tests of behaviour, vocabulary and visuomotor co-ordination. The differences remained significant after allowing for associated influences. The behaviour of children from one-parent families and step-parent families was perceived on average as more 'anti-social' than that of children from two-parent families. Children in one-parent families were seen on average as marginally more 'neurotic' than children in two-parent families.

Child Behavior↗

Educational attainment of 10-year-old children with treated and untreated visual defects.

Children with visual defects who took part in a 10-year survey were compared with their peers on measures of intelligence, reading, mathematics and sporting ability. Results are consistent with earlier findings of increased intelligence among children with myopia and slightly reduced intelligence among children with amblyopia. Those with other visual defects had normal intelligence scores. Once intelligence had been taken into account, only children with mild hypermetropia were under-achieving at reading. Those with severe myopia were reading better than expected. None of the children could be shown to be over- or under-achieving at maths, any variation being due to intelligence. The mothers of children with visual defects perceived them to be less able at sport. Comparison of the performances of children with minor visual defects who had and had not been prescribed spectacles did not suggest any disadvantage for those without spectacles, with the possible exception of children with mild hypermetropia. It is concluded that the majority of visual defects do not affect children's learning, and that current indications for prescribing spectacles need to be validated.

Achievement↗

Visual acuity in a national sample of 10 year old children.

The prevalence of defects of visual acuity among the 10 year old children in the 1970 birth cohort was 22.1%, but only in one third of these children was the defect more severe than 6/9. Defects were more common among girls. The relation of defects to social class was complex. Comparison with data collected on the children of the 1958 cohort when they were 11 years old suggests that although the prevalence of 6/9 visual acuity has remained constant over the last decade, the prevalence of more severe defects has declined from 12.9% to 7.3%. These findings have a number of implications for the provision of screening programmes and of ophthalmic services for children.

Amblyopia↗

Teenage mothering: child development at five years.

Developmental outcome at 5 yr was compared in 1031 singleton children of teenage mothers and 10,950 singleton children of older mothers in a national longitudinal study. Children born to teenage mothers and living with them through the first 5 yr performed less well than other children in tests of vocabulary and behaviour at 5 yr of age; they were also shorter on average and had a smaller head circumference. These differences remained significant after allowing for certain social and biological factors, whereas a difference on visuomotor coordination did not. Teenage mothering thus appears somewhat disadvantageous to children's development.

Adolescent↗

Evidence for increasing prevalence of diabetes mellitus in childhood.

The prevalence of diabetes mellitus among the cohort of children in the Child Health and Education Study studied at age 10 was 1.3/1000. Comparison with prevalences found in the two previous British birth cohort studies suggested that the prevalence of diabetes is doubling roughly every decade. The data suggested that childhood diabetics are a socially advantaged group. These findings have important implications and should be taken into account by health service planners if the needs of these children are to be met in the future.

Child↗

Family type and accidents in preschool children.

Children living in single-parent families or stepfamilies were found to be more likely to suffer accidental injuries in their first five years of life than children living with two natural parents. Frequent household moves, low maternal age, and perceived poor behaviour in the child were all more strongly associated with overall accident rates than family type, and these disadvantages were more common in atypical families. Family type appeared to be the most important influence on hospital admission after accidents. Overall, there was a close similarity in accident rates between children of single-parent families and stepfamilies, and both groups were more at risk than children living with both natural parents.

Accidents↗