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At least 847 records · Page 47Linked to original sources
PubMed2000

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).

We report the clinical, biochemical, and genetic characteristics of 13 hemochromatosis patients from Saguenay-Lac-Saint-Jean in whom the first symptoms appeared before age 30. Although the mean age at onset of the first symptoms was 21. 5 years, their mean age at diagnosis was 23.8 years; the diagnosis was particularly delayed among women. Seventy-seven percent of the patients had hypogonadotrophic hypogonadism and 69% heart failure and/or cardiac arrhythmias. Genetic analysis of the HFE gene revealed heterozygosity for the C282Y mutation in 2 patients and for the S65C mutation in 2 others and homozygosity for the H63D mutation in 1 patient. The remaining 8 patients had no identified mutation in the HFE gene, although sequencing of all seven codons and intron-exon junctions was performed (5 patients). All 13 patients fulfill the clinical criteria of juvenile hemochromatosis and represent the largest cluster thus far reported.

Adolescent↗
PubMed1995

Structural gene analysis of a Quebec reference strain or porcine reproductive and respiratory syndrome virus (PRRSV).

The 3' end genomic region of a Québec PRRSV reference strain (IAF-exp91), propagated in porcine alveolar macrophages (PAM), was sequenced and compared to the prototype European strain, the Lelystad virus (LV). The sequence, which represents the 3'-terminal 2834 nucleotides, encompassed 5 ORFs corresponding to ORFs 3 to 7 of LV. Extensive genomic variations resulting from an important rate of nucleotide additions, substitutions, and deletions were demonstrated between the two viruses. Indeed, the two corresponding sequences displayed a total of 66% and 63% identity at the nucleotide and amino acid levels, respectively. The predicted products of ORFs 5, 3, and 7, showed the highest rate of amino acid variations with percentages of identity of 52, 54, and 59, respectively. Sequence analysis of an additional Québec strain that could be propagated in a continuous cell line (MARC-145), suggested that Québec PRRSV strains belong to a genotype distinct from that of LV, thus confirming previous serological results which allowed to divide PRRSV isolates into two distinct antigenic subgroups (U.S. and European). Six viral major polypeptides with apparent M(rs) of 14.5K, 15K, 19K, 24.5K, 29K, and 42K could be identified from lysates of viral infected cells, of which the 15, 19 and 24.5K species seemed to be structural. In vitro translation products of ORFs 7 and 6 comigrated with the 15 and 19 K viral proteins, whereas that of ORF 5 may be associated to the 24.5K when translated in presence of microsomes. Consequently, it is likely that ORFs 7 to 5, encode the three major structural proteins.

Animals↗
PubMed1992

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec.

We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker (BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show that the frequency (68%) and distribution of deletions within the dystrophin gene was neither random nor unique in this population. We localized 33% of the deletions to the proximal portion of the dystrophin gene while 63% involved the exons spanning introns 43 through 55 with breakpoint clusters occurring within introns 44 and 50. Whether the dystrophin open reading frame (ORF) is maintained constrains the distribution of DMD/BMD deletions such that BMD deletions tend to be strikingly homogeneous. Finally, the conservation of the dystrophin ORF and the severity of the clinical phenotype were concordant in 95% of the DMD/BMD deletions documented by this work.

Adolescent↗
PubMed1983

Diagnosing coccidioidomycosis outside an endemic area. A recent case in Montreal, Quebec, Canada.

A 65-year-old female with a long-standing controlled Crohn's disease was admitted in August 1979 to a Montreal hospital for investigation of a non-calcified RUL lung nodule. After an extensive work-up (negative bronchoscopy and mediastinoscopy showing a granulomatous reaction) she underwent thoracotomy; the nodule was enucleated and showed caseous material within a fibrous capsule. Cultures in mycology produced a heavy growth of Coccidioides immitis, a diphasic pathogenic fungus endemic in South Western USA, identified by its morphology in autoclaved cultures, reversion to the spherule phase in mice and a 1:80 immunofluorescent stain with both commercial and patient's serum. The patient, who travelled to Arizona three times in recent years, was soon discharged and remains apparently well. Because of inherent risks from handling cultures of C. immitis, the authors urge that, when coccidioidomycosis is considered clinically and epidemiologically, the pertinent information be transmitted to the laboratory.

Aged↗
PubMed1991

Pathologic elements in the planning of information systems: the case of hospitals in Quebec.

The existing usage of information technology for information systems in hospitals draws attention to the fact that: (a) health care units which operate sophisticated numerical instrumentation to support medical activities rarely employ computers for the management of their operations and (b) despite the availability of affordable information technologies (microcomputers, networks, etc.), few hospitals include such elements as health care unit management in the development of their information systems portfolio. Is this paradoxical situation a result of the planning methodologies or of factors affecting their use? Or can it be attributed to the failure of present planning methodologies to incorporate the diversity of computerization approaches of the various stakeholders involved? If this is the case, untapped potential computerization possibilities exist that could lead to the development of hospital services and increased organizational efficiency.

Decision Making, Computer-Assisted↗
PubMed2004

Social participation of older adults in Quebec.

BACKGROUND AND AIMS: Measuring social participation of older adults is an important issue, since this concept includes not only daily activities (e.g.: feeding, personal care, mobility) but also social roles (e.g.: interpersonal relationships, leisure). The purpose of this study was to determine whether or not increased age is associated with a decrease in social participation. The study also explored relationships between social participation and some personal and environmental characteristics. METHODS: The Assessment of Life Habits (LIFE-H) was used to document social participation in 189 community-dwelling people aged 55 and over. The LIFE-H (short version 3.1) is composed of 77 daily activities and social roles associated with the 12 categories of the Disability Creation Process model. RESULTS: Social participation significantly decreases with advancing age (p < 0.001). Scores are reported for each category of the LIFE-H, by mean and standard deviation and also by percentiles for each of the following age groups: 55-64, 65-74, 75-84 and 85+. Gender is associated with participation in four LIFE-H categories, with women obtaining significantly higher scores in Nutrition (p < 0.001) and Interpersonal relationships (p = 0.007) and men in Housing (p = 0.002) and Mobility (p = 0.03). Lastly, participation is poorly associated with personal and environmental characteristics. CONCLUSION: This study will help clinicians and researchers to better understand the concept of participation, and particularly to distinguish between changes in participation due to normal aging and those attributable to pathological aging.

Aged↗