Introduction and overview

Rc, Elston

doi:10.1177/096228020000900602

Cited by 20 publications

(4 citation statements)

References 32 publications

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“…Incidence was calculated by dividing the number of diagnosed cases by the number of total births during the study period and multiplying by 100,000 [ 11 ].…”

Section: Methodsmentioning

confidence: 99%

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel

Benmeakel

Hossain

et al. 2016

Orphanet J Rare Dis

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BackgroundInborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. METHOD: We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period.ResultsOver the 13- year period of this retrospective cohort, the total number of live births reached 110,601. A total of 187 patients were diagnosed with IEMs, representing a incidence of 169 in 100,000 births (1:591). Of these, 121 patients (64.7 %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD.ConclusionOur study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.

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“…Incidence was calculated by dividing the number of diagnosed cases by the number of total births during the study period and multiplying by 100,000 [ 11 ].…”

Section: Methodsmentioning

confidence: 99%

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel

Benmeakel

Hossain

et al. 2016

Orphanet J Rare Dis

View full text Add to dashboard Cite

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“…These treatments also discuss the assumptions on which they are based, such as Hardy–Weinberg equilibrium, no epistasis (interactions between alleles at different loci), absence of gene‐environment interaction, and random mating. Elston (2001) provides an excellent explanation of important concepts in genetics and a translation between the terminologies of genetics and statistics.…”

Section: Biometrical Genetic Modelsmentioning

confidence: 99%

Biometrical Modeling of Twin and Family Data Using Standard Mixed Model Software

2008

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Summary. Biometrical genetic modeling of twin or other family data can be used to decompose the variance of an observed response or 'phenotype' into genetic and environmental components. Convenient parameterizations requiring few random effects are proposed, which allow such models to be estimated using widely available software for linear mixed models (continuous phenotypes) or generalized linear mixed models (categorical phenotypes). We illustrate the proposed approach by modeling family data on the continuous phenotype birth weight and twin data on the dichotomous phenotype depression. The example data sets and commands for Stata and R/S-PLUS are available at the Biometrics website.

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“…Thus, it would seem plausible that unless patient-by-treatment interaction is large, gene-by-treatment interaction cannot be so. The point is similar to one that has been made recently by Elston in an extremely useful introduction to statistical methods in genetic epidemiology (6). He writes, of an analogous phenomenon, "The presence of familial aggregation is no guarantee that there is a genetic component to the aetiology of a trait, but if there is no familial aggregation there is no point in search for segregating loci that might cause such an aggregation."…”

Section: A Between Treatmentsmentioning

confidence: 66%

Individual Therapy: New Dawn or False Dawn?

Senn

2001

Drug Information J

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The sequencing of the human genome brings with it the hope that greater understanding of genetic components of disease will allow the more specific targeting of therapies. It has also been suggested that it will permit sponsors to run "cleaner" clinical trials with less variability and a consequent saving in patient numbers. Howevel; we do not know how much of the variation in response that we see from patient to patient in clinical trials is genetic, because we rarely design the sort of trials that would allow us to identify patient-by-treatment interaction. Such interaction provides an upper bound for gene-bytreatment interaction for a group of patients studied since patients differ by more than their genes. On the other hand, howevel; the variability seen within a clinical trial may generally be expected to be less than the total variation that would be seen within a population. There is a related statistical issue to do with the interpretation of effects from clinical trials. This arises because there is confusion between experimental and sampling models of clinical research. It is concluded that we may have to pay careful attention to certain design features of clinical trials if we wish to make progress in this field.

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Introduction and overview

Cited by 20 publications

References 32 publications

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Biometrical Modeling of Twin and Family Data Using Standard Mixed Model Software

Individual Therapy: New Dawn or False Dawn?

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