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CMAJ – Press Release

Embargo: Monday, July 16th, 2007 at 5 pm

Poor ventilation and crowding in Nunavut homes associated with lung infections in Inuit children

Inadequate ventilation and overcrowding may contribute to the high incidence of lower respiratory tract lung infections in young Inuit children. Dr. Tom Kovesi and colleagues collected data on respiratory health and indoor air quality for 49 Inuit children under 5 years of age in the Baffin Region of Nunavut. They found that lower respiratory tract infection was significantly associated with indoor carbon dioxide levels and occupancy. On average, there were 6.1 occupants per house (as compared with 3.3–4.4 in southern Canada). Ventilation rates were below the recommended Canadian standard in 80% of the houses, with carbon dioxide levels often exceeding recommended concentrations. Elevated carbon dioxide is an indication of crowding and reduced ventilation. Smokers were present in 93% of the homes.

In a related commentary, Dr. Pamela Orr notes that the results of this research come as no surprise to those who live, work and study in the Canadian North. However, it is not clear whether crowded housing and inadequate ventilation are risk markers (reflecting an association with other risks, for example poverty) or risk factors (reflecting causation, for example exposure to infection) for lung infections in children. She notes that Kovesi’s study raises several questions, including the appropriateness of current housing designs in the North, which reflect Euro-Canadian designs for single nuclear family life rather than the extended communal family life of Inuit.

Inuit infants in the Baffin Region of Nunavut have the highest reported rate of hospital admission because of severe respiratory syncytial virus lung infection in the world, with annualized rates of up to 306 per 1000 infants. The infections are unusually severe in these infants: 12% of those admitted to hospital in Iqaluit require intubation and intensive care, necessitating costly and difficult air transport to tertiary care hospitals in southern Canada. Inuit infants also have disproportionately high rates of permanent chronic lung disease following a lower respiratory tract infection.

Contact for research: Dr. Tom Kovesi, Pediatric Respirologist, Children’s Hospital of Eastern Ontario. To arrange an interview, contact Julie Leblanc, CHEO Sr. Communications Advisor; 613 737-7600, ext. 3586,

Contact for commentary: Pamela Orr, professor, Departments of Medicine, Medical Microbiology and Community Health Sciences, and consultant, J.A. Hildes Northern Medical Unit, University of Manitoba, Winnipeg, Man., is available on July 16 only; 204 787-3391 or 204 787-7772

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July 17, 2007 Posted by | Alberta, Calgary, Canadian Institutes of Health Research, Global, Global Health Vision, Global News, Health Canada, Inuit children, Newfoundland, News Canada, Nova Scotia, Nunavut, Ottawa, RSS, RSS Feed, Toronto, World News | Leave a comment

New gene mutation identified in common type of dementia

ST. PAUL, MN — Researchers have identified a new gene mutation linked to frontotemporal dementia, according to a study published in the July 10, 2007 issue of Neurology®, the medical journal of the American Academy of Neurology.

Frontotemporal dementia, one form of which is known as Pick’s disease, involves progressive shrinking of the areas of the brain that control behavior and language. Symptoms include language problems and personality changes, often with inappropriate social behavior. Unlike Alzheimer’s disease dementia, the disease does not affect memory in the early stages. The genetic form of the disease is rare; most cases occur randomly.

“We are hopeful that this finding will help us better understand how this disease works and eventually help us develop new therapies for the disease,” said study author Amalia Bruni, MD, of the Regional Neurogenetic Centre in Lamezia Terme, Italy.

The researchers discovered a new mutation in the gene named progranulin in an extended family in southern Italy. The genealogy of this family has been reconstructed for 15 generations, going back to the 16th century; 36 family members have had frontotemporal dementia. For this study, DNA tests were conducted on 70 family members, including 13 people with the disease. “This is an important result that we pursued for more than 10 years,” said study co-author Ekaterina Rogaeva, PhD, with the Centre for Research in Neurodegenerative Diseases at the University of Toronto.

The mutation identified in this study is in a gene on chromosome 17. The mutation leads to a loss of progranulin, a protein growth factor that helps brain cells survive. The mutation causes only half of the protein to be produced, because only one copy of the gene is active. Production of too much progranulin has been associated with cancer.

The new gene mutation was found in nine of those family members with the disease and 10 people who are currently too young to have the symptoms of the disease. But four people with the disease did not have the gene mutation. Bruni noted that these four people belong to a branch of the family with the disease in at least three generations. “These results are intriguing, since the family has two genetically distinct diseases that appear almost identical,” said Bruni.

The Italian family had no cases with two copies of the mutated gene. “We would have expected to see cases with two copies of the mutated gene, especially since this family shares much of the same genetic material, as there have been at least five marriages between first cousins over the years,” Bruni said. “It’s possible that loss of both copies of the progranulin gene leads to the death of embryos, and that’s why there were no cases with two copies of the mutated gene.”

“Another intriguing aspect in this Italian family is the variable age at onset, which ranged from 35 to 87 years in the family members who inherited the same mutation. Our future research will try to identify the modifying factors responsible for the severity of the disorder,” said Rogaeva.

Rogaeva says their studies will also try to identify the second gene responsible for dementia in this family.

The study was supported by grants from the Canadian Institutes of Health Research, Howard Hughes Medical Institute, Canada Foundation for Innovation, Japan-Canada and Canadian Institutes of Health Research Joint Health Research Program, Parkinson Society of Canada, W. Garfield Weston Fellows, Japanese Society for the Promotion of Science, National Institute on Aging Intramural Program, Italian Ministry of Health, and the Calabria Regional Health Department.

The American Academy of Neurology, an association of more than 20,000 neurologists and neuroscience professionals, is dedicated to improving patient care through education and research. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as stroke, Alzheimer’s disease, epilepsy, Parkinson’s disease, and multiple sclerosis.

For more information about the American Academy of Neurology, visit


Angela Babb

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July 10, 2007 Posted by | Alberta, Alzheimers, Baltimore, Barcelona, Bethesda, Calabria Regional Health Department, Calgary, Canadian Institutes of Health Research, Cancer, Chromosome 17, Epilepsy, Genes, Genetic, Genetic Link, Genetics, Global, Global Health Vision, Global News, Howard Hughes Medical Institute, Italy, Japanese Society for the Promotion of Science, Joint Health Research Program, Lamezia Terme, Multiple Sclerosis, Neurodegenerative Diseases, News, News Australia, News Canada, News Israel, News Italy, News Jerusalem, News Switzerland, News UK, News US, News USA, Ottawa, Parkinson Society of Canada, Parkinson's, Pick's Disease, Progranulin, Protein Growth Factor, Research, RSS, RSS Feed, Stroke, The American Academy of Neurology, Toronto, University of Toronto, Virginia, W. Garfield Weston Fellows, WASHINGTON, Washington DC, Washington DC City Feed, World News | Leave a comment