Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
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Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated population living in Newfoundland and performed a 5-cM genome scan. Linkage analysis identified a locus mapping to 12p13.33 with a maximum LOD score of 8.4. Haplotype sharing defined a candidate interval of 1.06 Mb containing all or part of seven annotated genes, sequencing of which failed to detect causative mutations. Comparative genomics revealed a conserved ORF corresponding to a novel gene in which we found three different truncating mutations among five families including patients from rural Quebec and Nova Scotia. This gene, termed "HSN2," consists of a single exon located within intron 8 of the PRKWNK1 gene and is transcribed from the same strand. The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. (+info)
Modular construction of early Ediacaran complex life forms.
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Newly discovered, exceptionally preserved, soft-bodied fossils near Spaniard's Bay in eastern Newfoundland exhibit features not previously described from Ediacaran (terminal Neoproterozoic) fossils. All of the Spaniard's Bay taxa were composed of similar architectural elements-centimeter-scale frondlets exhibiting three orders of fracticality in branching. Frondlets were combined as modules atop semi-rigid organic skeletons to form a wide array of larger constructions, including frondose and plumose structures. This architecture and construction define the "rangeomorphs," a biological clade that dominated the Mistaken Point assemblage (575 to 560 million years ago) but does not appear to be ancestral to any Phanerozoic or modern organisms. (+info)
Prevalence of overweight and obesity in a provincial population of Canadian preschool children.
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BACKGROUND: More and more school-aged children in Canada and elsewhere are becoming overweight or obese. Many countries are now reporting a similar trend among preschool children. However, little information is available on the prevalence of overweight and obesity among preschool children in Canada. In addition, available data are based on reported rather than measured heights and weights. We conducted this study to determine the prevalence of overweight and obesity, using measured heights and weights, in the 1997 cohort of children aged 3-5 years born in Newfoundland and Labrador. METHODS: We calculated the body mass indices (BMIs) using heights and weights measured by public health nurses during the province-wide Preschool Health Check Program conducted between October 2000 and January 2003. Descriptive data on the children's BMIs and prevalence estimates were generated and analyzed by sex and age with the use of the classification system recommended by the International Obesity Task Force. RESULTS: Data were available for 4161 of the 5428 children born in 1997; boys and girls were equally represented (50.1% and 49.9% respectively). Overall, 25.6% of the preschool children in the cohort were overweight or obese. The rates did not differ significantly by sex or age group. INTERPRETATION: These results indicate that a high proportion of children aged 3-5 years in Newfoundland and Labrador are overweight or obese. It appears that prevention measures should begin before the age of 3 years. (+info)
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
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BACKGROUND: Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. METHODS: We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. RESULTS: We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. CONCLUSION: Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449) of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein. (+info)
Inhaler therapy. What it means for children with asthma.
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OBJECTIVE: To investigate what inhaler therapy means for children with asthma and to identify problems and concerns children experience with inhalers. DESIGN: Qualitative research design. SETTING: A community-based family practice in rural Newfoundland. PARTICIPANTS: Seventeen children, aged 5 to 16, who had been diagnosed with mild or moderate asthma and were being prescribed inhaled steroids or bronchodilators. METHOD: Two in-depth interviews with each of a purposive sample of participants were analyzed by the selective or highlighting approach. MAIN FINDINGS: Common positive themes were identified: inhalers were easy to use, and medication was necessary for good quality of life. Common negative themes were simply forgetting, inconvenient and annoying, only-as-needed approach, medication does not work well anyway, and side effects. CONCLUSION: Inhaler therapy had both positive and negative meaning for children. Although inhaled medications were seen as very important for good quality of life when taken regularly, most children wanted to use them only as needed for symptom control. Children knew the importance of inhaler therapy but still complied poorly. (+info)
Molecular characterization of birnaviruses isolated from wild marine fishes at the Flemish Cap (Newfoundland).
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Several isolates of aquatic birnaviruses were recovered from different species of wild fish caught in the Flemish Cap, a Newfoundland fishery close to the Atlantic coast of Canada. The nucleotide sequence of a region of the NS gene was identical among the isolates and was most similar to the Dry Mills and West Buxton reference strains of infectious pancreatic necrosis virus (IPNV). Phylogenetic analysis of the sequence of a region of the VP2 gene demonstrated that the isolates were most closely aligned with the American strains of IPNV serotype A1. Electron microscopy of virus structures clarified and concentrated from cultures of infected chinook salmon embryo (CHSE-214) cells revealed a majority of typical IPNV-like icosahedral particles, as well as a low proportion of type I tubules having a diameter of approximately 55 nm and a variable length of up to 2 microm. The tubules could be propagated in cell cultures, but always in the presence of low proportions of icosahedral particles. Cloning of selected isolates by serial dilution yielded preparations with a high proportion of the tubular structures with a density in CsCl gradients of approximately 1.30 g cm(-3). Polyacrylamide gel electrophoresis revealed the material in the band was composed of the IPNV pVP2 and VP2 proteins. (+info)
Having a regular doctor: rural, semi-urban and urban differences in Newfoundland.
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INTRODUCTION: Recent studies suggest that 23% of adult Newfoundlanders do not have a regular doctor. Using data from the 1995 Newfoundland Panel on Health and Medical Care study, we examined the urban, semi-urban and rural differences in the characteristics of adult (age 20 and over) Newfoundlanders who did and did not have a regular doctor. METHODS: We used chi2 tests and logistic regression to analyze data from 11,789 respondents from randomly selected households in Newfoundland. The dependent variable was "Have a regular doctor" (Yes / No). The independent variable was "Place of residence" (Urban / Semi-urban / Rural) and covariates included socio-demographic and health-related variables. RESULTS: Fifteen percent (1771) of Newfoundlanders did not have a regular doctor. Of these, the largest proportion of respondents without a regular doctor lived in rural communities (74.4%); were male (62.6%); were 20-29 years old (28.7%); married (68.8%); of high socio-economic status (44.7%); working full-time (35.3%); had excellent or good health (83.0%); had no chronic illness (40.3%), disability (93.3%) or impairments to activities of daily living (98.0%); and were in excellent or good emotional health (90.7%). Compared to their urban counterparts, residents of semi-urban communities were as likely (odds ratio 1.03; 95% confidence interval [CI] 0.84-1.26) not to have a regular doctor and residents of rural communities were 4.03 (95% CI 3.50-4.65) times more likely than their urban counterparts not to have a regular doctor. CONCLUSION: In 1995, fewer adult Newfoundlanders than previously estimated did not have a regular doctor. Rural residents were more likely not to have a regular doctor than residents of either urban or semi-urban communities. (+info)
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
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Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology of BBS and LMS, further define the phenotype, and examine genotype-phenotype correlation. The study involved 46 patients (26 males, 20 females) from 26 families, with a median age of 44 years (range 1-68 years). Assessments were performed in 1986, 1993, and 2001 and included neurological assessments, anthropometric measurements, and clinical photographs to assess dysmorphic features. The phenotype was highly variable within and between families. Impaired co-ordination and ataxia occurred in 86% (18/21). Thirty percent (14/46) met criteria for psychiatric illness; other medical problems included cholecystectomy in 37% (17/46) and asthma in 28% (13/46). Dysmorphic features included brachycephaly, large ears, and short, narrow palpebral fissures. There was no apparent correlation of clinical or dysmorphic features with genotype. Two patients were diagnosed clinically as LMS but both had mutations in a BBS gene. The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs. (+info)