Changes in cystic fibrosis mortality in Australia, 1979–2005

Reid, David W.; Blizzard, Christopher Leigh; Shugg, D; Flowers, C. Clay; Cash, Catherine; Greville, Hugh

doi:10.5694/mja10.11229

Cited by 41 publications

(44 citation statements)

References 25 publications

(22 reference statements)

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“…Females are reported to have a reduced median survival age (by approximately 3 years), an earlier average age of Pseudomonas aeruginosa infection in the lungs, greater rates of pulmonary decline, and elevated resting energy expenditure when compared to males (Demko et al, 1995; Corey et al, 1997; Allen et al, 2003). Although some current studies replicate these findings (Barr et al, 2011; Reid et al, 2011), others show no evidence of a gender gap and propose that phenotypic variability could be attributed to non-uniformity of care or the need to account for other factors such as body habitus, presence of diabetes, or the finding that females are more likely to be diagnosed later in life than males (Widerman et al, 2000; Milla et al, 2005; Rodman et al, 2005; Verma et al, 2005; Stern et al, 2008; Fogarty et al, 2012). …”

Section: Heterogeneity Of Cftrsupporting

confidence: 60%

Genetic Influences on Cystic Fibrosis Lung Disease Severity

Weiler¹,

Drumm²

2013

Front. Pharmacol.

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Understanding the causes of variation in clinical manifestations of disease should allow for design of new or improved therapeutic strategies to treat the disease. If variation is caused by genetic differences between individuals, identifying the genes involved should present therapeutic targets, either in the proteins encoded by those genes or the pathways in which they function. The technology to identify and genotype the millions of variants present in the human genome has evolved rapidly over the past two decades. Originally only a small number of polymorphisms in a small number of subjects could be studied realistically, but speed and scope have increased nearly as dramatically as cost has decreased, making it feasible to determine genotypes of hundreds of thousands of polymorphisms in thousands of subjects. The use of such genetic technology has been applied to cystic fibrosis (CF) to identify genetic variation that alters the outcome of this single gene disorder. Candidate gene strategies to identify these variants, referred to as “modifier genes,” has yielded several genes that act in pathways known to be important in CF and for these the clinical implications are relatively clear. More recently, whole-genome surveys that probe hundreds of thousands of variants have been carried out and have identified genes and chromosomal regions for which a role in CF is not at all clear. Identification of these genes is exciting, as it provides the possibility for new areas of therapeutic development.

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Section: Heterogeneity Of Cftrsupporting

confidence: 60%

Genetic Influences on Cystic Fibrosis Lung Disease Severity

Weiler¹,

Drumm²

2013

Front. Pharmacol.

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“…[5][6][7] Because of advances in screening, treatment, and infection control, patients diagnosed with CF within the past decade are now expected to survive into their 50s. 8,9 However, treatment of CF involves daily adherence to intensive antibiotic regimens, vitamin and enzyme supplements, consumption of a calorie-rich diet, inhaler use, and physically demanding chest physiotherapy. Limited daily functioning, poor adherence to treatment, low self-esteem, short stature, and impaired psychosocial outcomes have been reported.…”

mentioning

confidence: 99%

Children's Experiences of Cystic Fibrosis: A Systematic Review of Qualitative Studies

Jamieson¹,

Fitzgerald

Singh‐Grewal

et al. 2014

PEDIATRICS

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“…For example, in the UK, in the period from 1968 to 1970, approximately half of the population of males or females succumbed to the disease by the time of entry into reproductive competency, but by the early 1990s, the majority of UK CF patients could be expected to survive well into their reproductive years [9]. Similar data have been obtained in Australian CF patients [10]. There are undoubtedly a number of other potentially fatal conditions associated with one or more alleles at a single predominant genetic locus where improvements in care have increased survival and reproductive success.…”

mentioning

confidence: 76%

Clinical consequences of human evolution shaped by cultural trends

Greenspan

2013

Evolution, Medicine, and Public Health

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Recent reports suggest that increased human population size, decreased negative selection pertaining to some phenotypes and associated genotypes and a possibly increased de novo mutation burden for newborns that relates to paternal age at conception are contributing to an expansion of human genetic diversity. Some of this diversity can be expected to contribute to disease. Because all of the preceding diversity-enhancing factors are to a significant degree consequences of cultural developments, it can be argued that the future clinical burden of the human population will be shaped in part by a human evolutionary trajectory substantially influenced by culturally mediated effects on the number of mutations in the gene pool and on the intensity of selection on some of the phenotypes associated with new genetic variants.

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Changes in cystic fibrosis mortality in Australia, 1979–2005

Cited by 41 publications

References 25 publications

Genetic Influences on Cystic Fibrosis Lung Disease Severity

Genetic Influences on Cystic Fibrosis Lung Disease Severity

Children's Experiences of Cystic Fibrosis: A Systematic Review of Qualitative Studies

Clinical consequences of human evolution shaped by cultural trends

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