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Research

Representativeness of child controls recruited by random digit dialling

Recruiting control subjects who are representative of the population from which the cases are drawn is a challenge in case-control studies

Research

The reliability of a food frequency questionnaire for use among adolescents

Accurate measurement of dietary intake is essential for understanding the long-term effects of adolescent diet on chronic disease risk.

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Persistent Effects of Maternal Smoking during Pregnancy on Lung Function and Asthma in Adolescents

The extent to which maternal smoking in pregnancy (MSP) has persisting effects on respiratory health remains uncertain and the mechanisms involved are not...

Research

High prevalence of undiagnosed obstructive sleep apnoea in the general population and methods for screening for representative controls

Undiagnosed obstructive sleep apnoea (OSA) in the community makes comparisons of OSA subjects with control samples from the general population problematic.

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Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

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The long-term effects of breastfeeding on child and adolescent mental health: A Pregnancy Cohort Study followed for 14 years

To determine whether there was an independent effect of breastfeeding on child and adolescent mental health

Research

Effect of maternal prebiotic supplementation on human milk immunological composition: Insights from the SYMBA study

Immunomodulatory proteins in human milk (HM) can shape infant immune development. However, strategies to modulate their levels are currently unknown. This study investigated whether maternal prebiotic supplementation alters the levels of immunomodulatory proteins in HM. 

Research

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

The effect of CFTR modulators on structural lung disease in cystic fibrosis

Newly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).

Research

Genome-wide association study identifies five loci associated with lung function

Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD).