Assessing Reports of Therapeutic Trials

Abstract

MRDICAL JOURNAL 637 details of the register, including operational details and the design of the register cards, will be published later. ResultsData on 478 families have been collected. In 83 families the disorder in question either proved not to be genetic or the cause was unresolved. No individuals were considered to be at risk in these families. The distribution of the various types of genetic disease (see Table) among the remaining families is not representative of the population as a whole, but partly reflects the department's particular interests-for example, in the X-linked muscular dystrophies.Of the 478 families, 249 were referred specifically for genetic counselling-50 autosomal dominant, 56 autosomal recessive, 33 X-linked recessive, 61 multifactorial, 22 chromosomal, and 27 in which the disorder was either not genetic or the cause was unresolved.Individuals at risk of becoming affected themselves mainly concemed autosomal dominant disorders-that is, 245 out of a total of 280 subjects were considered to be at risk. This is mainly because many of these disorders were of late onset and occurred in large families-for example, myotonic dystrophy, Huntington's chorea, and polyposis coli.Of 717 subjects at risk of having an affected child or of having a carrier daughter (X-linked recessive disorders), autosomal dominant and X-linked disorders accounted for 646. In the case of autosomal dominant disorders many were at risk both of becoming affected and of having affected children.A total of 56 affected children ("preventable cases") were born to parents who, a priori, were at high risk of having affected offspring. There were a further 94 individuals at high risk of becoming affected, but so far they have shown no signs of the disease. DiscussionOur results indicate that the main scope for preventing genetic disease lies with the simply inherited disorders, because in general the proportion of individuals at high risk is greater than in the case of multifactorial and chromosomal disorders. Even in simply inherited disorders, however, it will be possible to prevent only a proportion of cases, since some will occur in families in which there has been no previous history of the disease.Only a relatively small proportion of individuals at risk of having affected children (or carrier daughters in the case of X-linked disorders) were referred specifically for genetic counselling (101 out of a total of 717, or 14%). Many affected children were born to parents who, a priori, were at high risk of having affected children but who had never been counselled and were therefore unaware of the risks. Others were referred for counselling only after the birth of an affected child which might otherwise have been prevented. At present no defined procedure for tracing such individuals exists. Herein lies the value of a genetic register system. The first step in such a system is the ascertainment of those at risk. This could be achieved through general practitioner, hospital, and health department records linked to a genetic re...

Total body water measurement using bioelectrical impedance analysis, isotope dilution and total body potassium: a scoring system to facilitate intercomparison

“…Thirdly, literature reviewers wishing to summarise information on BIA can use it to evaluate and rank the quality of existing pertinent literature. The scale can help authors and editors to ensure that all the fundamental information needed in the reports is included (Lionel & Herxheimer, 1970). The scale may be also used as a tool for standardisation of studies that could be candidates for inclusion in metaanalyses.…”

“…Go to Table 1a 40 (Lionel & Herxheimer, 1970) Because in the future we intend to assess BIA accuracy, procedures were weighted higher 13. Was the gold standard (GS) test performed in a standardised manner?…”

Assessing Statistical Applications in Publications on Alzheimer’s Disease

“…Considering the items in ASR that assessed the statistical features shared by both randomized clinical trials and AD studies (e.g. descriptions of primary hypotheses/objectives), their validity for the assessment of AD publications was agreed upon among the study team members, and can further be substantiated by several published valid and reliable instruments for the assessment of the methodological quality of randomized clinical trials [29][30][31][32][33][34][35][36] . Considering the items in ASR that assessed the specific statistical and analytic features of AD studies (e.g.…”

“…The existing instruments in the literature for assessing the methodological quality of controlled clinical trials [29][30][31][32][33][34][35][36] along with various published guidelines [37][38][39][40][41] provided a beginning point for our development of instruments/checklists. ASR included these items from the published instruments and guidelines that assess the features of statistical reporting shared by both randomized clinical trials and AD studies, for example, a clear description of the primary study hypotheses/objectives, sampling, and sample characteristics.…”

“…Although there are multiple published checklists and instruments to assess the methodological quality of randomized clinical trials or interventional studies [29][30][31][32][33] , very few have been developed for the analytic evaluation of nonrandomized studies or observational studies. Even well-established reviewing organizations such as Cochrane Collaboration focus their reviews mainly on randomized clinical trials.…”