To examine the prevalence of systemic and ocular disease among choroideremia patients and carriers.
A cross-sectional analysis was performed on responses from affected males with choroideremia, female carriers, and unaffected brothers to an Internet-based survey made available from September 2009 to November 2010. Affected males were classified into two groups, those with or without functional vision. Carrier females were classified into those with and without symptoms. Comparisons were made between these groups.
There was a higher prevalence of dry eye in our respondents than the North American population. The prevalence of dry eye, cataract, hypertension, diabetes, psychological problems and hypercholesterolemia were higher in choroideremia males without functional vision compared to those with functional vision. Likewise, statin intake was more prevalent among the affected males without functional vision than those with functional vision. After age adjustment, any differences between the two subgroups of male patients (with and without functional vision) were not significant.
Age plays an important role in determining the onset of severe visual impairment with loss of functional vision in male subjects affected by choroideremia. Although Internet surveys have limitations such as the use of self-reported diagnoses and the possibility that the responses may not be representative of the population as a whole, this study shows that such surveys can provide data quickly and easily, and for rare diseases such as choroideremia, with relatively large numbers of responses.
Few studies have investigated the factors associated with asthma in young Aboriginal children.
To characterize the association of demographic, environmental and early life factors with asthma in young Aboriginal children in Canada.
The 2006 Aboriginal Children's Survey was conducted among off-reserve Aboriginal children zero to six years of age to obtain information on Aboriginal children's development and well-being. The prevalence of asthma in Aboriginal children was obtained from the parental report of asthma as diagnosed by a health care professional.
The prevalence of reported asthma among off-reserve Aboriginal children zero to six years of age (n=14,170) was 9.4%. Asthma prevalence in both exclusively breastfed children (6.8%) and ever but not exclusively breastfed children (9.0%) was significantly lower than that in nonbreastfed children (11.0%). In the multiple logistic regression analysis, exclusive breastfeeding was protective of asthma compared with nonbreastfeeding (OR 0.59 [95% CI 0.44 to 0.78]). Older age groups, male sex, having two or more older siblings, low birth weight, day care attendance and ear infection were significant risk factors for asthma.
The prevalence of asthma among young Aboriginal children zero to six years of age living off reserve was slightly lower than that reported for all other Canadian children. Breastfeeding, especially exclusively breastfeeding, was protective of asthma in Aboriginal children, which is consistent with what has been observed in non-Aboriginal children in Canada. Public health interventions intended for reducing asthma incidence in young Aboriginal children should include breastfeeding promotion programs.
Cites: Am J Respir Crit Care Med. 2003 May 1;167(9):1239-4312446273
It is widely recognised that significant discrepancies exist between the health of indigenous and non-indigenous populations. Whilst the reasons are incompletely defined, one potential cause is that indigenous communities do not access healthcare to the same extent. We investigated healthcare utilisation rates in the Canadian Aboriginal population to elucidate the contribution of this fundamental social determinant for health to such disparities.
Healthcare utilisation data over a nine-year period were analysed for a cohort of nearly two million individuals to determine the rates at which Aboriginal and non-Aboriginal populations utilised two specialties (Cardiology and Ophthalmology) in Alberta, Canada. Unadjusted and adjusted healthcare utilisation rates obtained by mixed linear and Poisson regressions, respectively, were compared amongst three population groups - federally registered Aboriginals, individuals receiving welfare, and other Albertans.
Healthcare utilisation rates for Aboriginals were substantially lower than those of non-Aboriginals and welfare recipients at each time point and subspecialty studied [e.g. During 2005/06, unadjusted Cardiology utilisation rates were 0.28% (Aboriginal, n?=?97,080), 0.93% (non-Aboriginal, n?=?1,720,041) and 1.37% (Welfare, n?=?52,514), p?=?
Cites: Am J Public Health. 2006 Aug;96(8):1478-8416571711
Cites: Lancet. 2006 Jun 17;367(9527):2029-3116782494
Cites: J Gen Intern Med. 2007 Jul;22(7):1011-717415619
Cites: J Epidemiol Community Health. 2007 Nov;61(11):1010-317933961
Cites: Lancet. 2008 Jul 5;372(9632):1818613322
Cites: Aust J Rural Health. 2008 Oct;16(5):297-30118808488
Cites: CMAJ. 2008 Nov 4;179(10):985-618981431
Cites: Can Fam Physician. 2008 Nov;54(11):1511-3, 1518-2019005106
Cites: Health Policy. 2008 Dec;88(2-3):222-3518471923
Cites: Health Place. 2009 Jun;15(2):403-1118760954
Cites: Aust J Rural Health. 2009 Feb;17(1):2-919161493
To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I.
Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). Single nucleotide polymorphic linkage analysis was then used to confirm another locus, and DNA was analyzed with the Usher Chip v4.0 platform.
Severe hearing impairment, unintelligible speech, and retinitis pigmentosa with varying degrees of visual acuity and visual field loss established a clinical diagnosis of Usher syndrome type I. The patients did not carry the exon 10 mutation in the PCDH15 gene; however, with microarray analysis, a previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings.
The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.
Cites: Exp Eye Res. 2000 Aug;71(2):173-8110930322
Cites: Mol Vis. 2010;16:1898-90621031134
Cites: Hum Mol Genet. 2001 Aug 1;10(16):1709-1811487575