摘要:

Human gene therapy is two things. It is the concept that human disease might be treated at the level of underlying genetic targets rather than at the level of aberrant metabolism, and it is the implementation of that concept toward a clinical reality. The conceptual aspect is established gene therapy has become an accepted central driving force in medicine. The second aspect—that of converting the concepts into practical tools for human gene therapy—is maturing rapidly. Over the past several years, the level of expectation had risen to unrealistic proportions and recent initial clinical trials produced disappointment. These early clinical results should, however, be viewed not as failures, but rather as deliberate progress along the learning curve in this new and difficult field of biomedical scie

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13908.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Attention‐deficit Hyperactivity Disorder (ADHD), defined as a disorder of awareness with impul‐sivity, has lately been characterized as a dysfunction of the striatum (neostriatum = globus pallidus + putamen). This structure is in a unique position for contextual analysis and samples information from almost the entire cortex through its spiny neurons. The etiology is heterogeneous, with genetic as well as lesional factors. Among the latter, pre‐ and perinatal events are prominent. Advances in the understanding of the role of fetal circulatory insufficiency with loss of autoregulation and systemic hypotension have drawn attention to the vulnerability of watershed regions, including the striatum. Not only circulatory facts are important for this selectivity, however. The anatomical characteristics, with convergent glutaminergic afferent synaptic transmission from almost the entire cortex contribute to the vulnerability in ischemia‐induced liberation of glutamate: The striatum becomes the victim of its virtue. Repeated hypoxic‐ischemic events are particularly common in prematurity, a fact which seems to explain the high incidence of ADHD in this patient group. The magnitude of the problem is increasing with the increased survival rate among prematur

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13909.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

The breastfeeding practice of 312 mothers attending mother and child health centres in Oslo, Norway, was measured using self‐administered questionnaires. Having started with supplements at 3 months postpartum was related to having a spouse/cohabitant, smoking, and having only one child (logistic‐regression with civil state, age, education, smoking, number of children, social support, smoking × civil state, and education × civil state as independent variables). The frequency of having started with supplements increased with increasing maternal cigarette consumption. Among non‐smoking, married/cohabiting mothers, the frequency of having started with supplements at 3 months postpartum was 41% if the spouse/cohabitant smoked, compared with 18% if he did not smoke (

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13910.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Fifty‐two children aged 18 months who had fallen across two weight centile lines were compared to 52 controls. Five years after the initial study, 89% of these children were traced. At follow‐up, four of the cases but none of the controls had been placed in care and cases were significantly shorter and lighter than controls. Reanalysis of the early weight data revealed that the screening criterion had been over‐inclusive, identifying a majority with only borderline failure to thrive (FTT). Although the mean IQ was lower in the cases than in controls, the difference was not statistically significant. However, a significant association was found within the cases between severity of FTT and IQ. There was no difference in the number of behaviour problems reported. The use of a simple centile shift‐based definition of FTT, while proving to be over‐sensitive, has identified a subgroup of children who suffered adverse long‐term cogniti

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13911.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Objective: To compare the growth curves based on measurements of body weight for male and female infants dying of sudden infant death syndrome (SIDS) with those of male and female controls.Methods: The data were drawn from a large case control study of SIDS carried out in New Zealand between 1987 and 1990.Results: The mean birthweight for the cases was 3049 g and for the controls 3526 g. The mean growth curves for the male and female controls were close to the 50th centile of growth charts used in New Zealand. The growth curve for the male cases diverged from that of the controls, being closer to the 25th percentile. The differences between the female cases and controls were less pronounced. The differences in weekly weight increments derived from the curves for the cases and controls for nine 4‐week periods were not statistically significant after taking into account race, manner of feeding and maternal smoking for any 4‐week period.Conclusions: SIDS cases were lighter at birth, but their growth velocity was normal postnata

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13912.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Objectives: To determine the efficacy of antimicrobial treatment in non‐dysenteric persistent diarrhoea in a community setting.Methods: In this double‐blind field trial, 156 children aged 4 36 months with persistent diarrhoea not associated withGiardia lambliainfestation seeking treatment in a community outpatient clinic, were randomized to receive a combination of nalidixic acid and metronidazole, metronidazole alone, or placebo for 7 days.Results: In comparison with placebo, metronidazole treatment did not result in a significant reduction in the mean post‐enrolment diarrhoeal duration and stool frequency, increase in the proportion of patients recovered by days 3, 5 and 7 of treatment, and increase in weight gain at days 7 and 14. Comparing the combination of nalidixic acid and metronidazole with metronidazole alone, 17.5% more children treated with the combination recovered by day 3 of treatment (p= 0.08) and the mean stool frequency ascertained on day 7 for the previous 24 h was 26.8% less in them (p= 0.05). The weight gains at days 7 and 14 were similar in the two groups.Conclusions: These findings indicate that metronidazole offers no therapeutic benefit in persistent diarrhoea not associated withGiardia lambliaand nalidixic acid has only a modest clinical benefit, which is not substantial enough to warrant its routin

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13913.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

All fourth‐grade school children in Munich and the surrounding districts (age 9 11 years,n= 9403) were surveyed with a questionnaire, lung function testing and bronchial provocation. Croup was reported in 9.8%. In these children, lung function was decreased even after controlling for asthma and other confounding factors. Only recurrent croup had an increased prevalence in children with asthma. When a family history for asthma, maternal smoking and social status were included into a logistic multiple regression model, the odds ratio to develop asthma was 2.91 (confidence interval (CI) 2.19 3.86) for children with a history of croup, 2.60 (CI 1.93‐3.51) for a family history for asthma and 8.60 (CI 4.99‐14.80) for the combination of family history and croup. Asthma was diagnosed in 37.3% of children with croup and a positive family hi

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13914.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

In a nationwide study in Finland, 78 patients, 38 male and 40 female in 25 families, were found to have Alport's syndrome, corresponding to 1 in 53 000 live births. This frequency of clinically manifest Alport's syndrome was much lower than expected from earlier reports. The first sign of the disease was most often haematuria, but was sometimes proteinuria or hearing loss. These signs were detected at a similar median age in both boys and girls, namely 6.2 and 6.0 years, respectively. The patients were followed up over a median period of 12.1 years (range 0.1‐34.0 years). The clinical course of the disease was more severe in the male subjects than in the female subjects: 53% of the males and 13% of the females developed terminal renal failure at median ages of 24.9 and 31.1 years, respectively. At the last observation, 34% males and 78% females were free of renal insufficiency at median ages of 10.3 and 26.8 years. Hearing loss was detected in 74% of the males and 5% of the females. Regarding the rate of deterioration of renal function, no statistically significant difference was noticed between males and females. The routine use of dialysis and transplantations has dramatically changed the life expectancy of the patient

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13915.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Objective: To assess psychosocial concerns of families with familial hypercholesterolaemia.Methods: One‐hundred‐and‐fifty‐four single or pairs of parents of children age 6‐16 years responded to a specifically designed questionnaire. One child from each family was interviewed.Results: Eleven percent of parents thought that their quality of life would have been better had they not known about the disease. None agreed totally that they wished that the diagnosis had not been made. However, 20% reported familial conflicts and 8% that their child's emotional or social life had been adversely affected. Conflicts and adverse effects were associated with higher scores on the Child Behaviour Checklist (CBCL). Among the children, worry about cardiovascular disease (affirmed by 22%) was related to male sex and CBCL score.Relevance: Most families do not indicate that they have experienced psychosocial problems due to familial hypercholesterolaemia. Parental ratings of the child's behavioural adjustment may identify vulnerable

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13916.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Muscle biopsy studies were performed on 26 infants with symptomatic ventricular septal defect (VSD) (mean age 4.7 months) and 10 healthy infants (mean age 7.8 months). Analyses were made of muscle energy substrates, metabolic products, muscle enzyme activity, fibre types and fibre sizes. Relatively few differences were noted between the groups. The most important difference was a reduced ATP level in the VSD group. Glucose 6‐phosphate concentrations were also lower in the VSD group. These differences could indicate a low metabolic activity in skeletal muscle in infants with heart failure. Most muscle enzyme activity was comparable with the exception of lactate dehydrogenase (LD), which was lower in the VSD group. Within the VSD group, no differences were revealed in muscle substrate concentrations or muscle enzyme activity in terms of the degree of heart failure. We conclude that low energy levels are probably explained by undernourishment and/or reduced blood flow to skeletal muscle and that the lack of other discrepancies in muscle metabolism indicates a desirable relatively normal motor activity in these infants with symptomatic VS

ISSN:0803-5253    

DOI:10.1111/j.1651-2227.1996.tb13917.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY