Sorcha Collins

P.080 Head circumference values among Inuit children in Nunavut, Canada: a retrospective cohort study

KM Joyal, Sorcha Collins, Alec Miners, Nick Barrowman et autres

Background: Inuit children have been observed to have high rates of macrocephaly, which leads to burdensome travel for medical evaluation, often with no pathology identified. Given reports that WHO growth charts may not reflect all populations, we compared head circumference (HC) measurements …

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Head circumference values among Inuit children in Nunavut, Canada: a retrospective cohort study

Kristina Joyal, Sorcha Collins, Amber Miners, Nick Barrowman et autres

Background: Inuit children from Nunavut have been observed to have high rates of macrocephaly, which sometimes leads to burdensome travel for medical evaluation, often with no pathology identified upon assessment. Given reports that World Health Organization (WHO) growth charts may not reflect …

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Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut

Sorcha Collins, Sharon Edmunds, Gwen Healey Akearok, James R. Thompson et autres

Objective: Infectious illness, including lower respiratory tract infection (LRTI), is a leading cause of childhood morbidity and infant mortality in Inuit children in Nunavut Canada. The carnitine palmitoyltransferase 1A (CPT1A) p.P479L variant is common in arctic Indigenous populations of Alaska, Canada, and …

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Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut

Sorcha Collins, Gertrude Elizabeth Hildes-Ripstein, James R. Thompson, Sharon Edmunds et autres

Abstract Introduction Neonatal hypoglycemia (NH) in the first days of life can largely be prevented by recognizing those at risk and managing accordingly. The CPT1A P479L variant is prevalent in northern Indigenous populations and is a possible risk factor for hypoglycemia. We …

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The role of the carnitine palmitoyltransferase 1A (CPT1A) p.P479L variant in Inuit infant and child health outcomes in Nunavut

Sorcha Collins

Nunavut leads the country for a number of adverse early child health outcomes, including infant hospitalizations for lower respiratory tract infection (LRTI; ~306/1,000), otitis media (85%) and infant mortality (21.5/1,000). The p.P479L (c.1436C>T, rs80356779) variant of carnitine palmitoyltransferase 1A (CPT1A), an enzyme …

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

Graham Sinclair, Sorcha Collins, Laura Arbour, Hilary Vallance

The hepatic carnitine palmitoyltransferase I (CPT1A) p.P479L variant is common in Aboriginal populations across coastal British Columbia, Alaska, the Canadian North, and Greenland. While the high frequency of this variant suggests positive selection, other studies have shown an association with sudden unexpected …

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Nunavut well-baby record: modifying a standars tool for remote indigenous population

Sorcha Collins, Maya Nakajima, Geraldine Osborne, Laura Arbour

Introducao: is Canada‘s most northerly and remote territory with a population of 35,591, of which 85% are Inuit. It leads the country for indicators of adverse perinatal outcomes (maternal smoking 80%, teenage births 20%), and rates of adverse early child health outcomes …

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Causes and risk factors for infant mortality in Nunavut, Canada 1999–2011

Sorcha Collins, Padma Surmala, Geraldine Osborne, Cheryl R. Greenberg et autres

BACKGROUND: The northern territory Nunavut has Canada's largest jurisdictional land mass with 33,322 inhabitants, of which 85% self-identify as Inuit. Nunavut has rates of infant mortality, postneonatal mortality and hospitalisation of infants for respiratory infections that greatly exceed those for the rest …

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Carnitine Palmitoyltransferase I and Sudden Unexpected Infant Death in British Columbia First Nations

Graham Sinclair, Sorcha Collins, Oana Popescu, Deborah E. McFadden et autres

OBJECTIVE: Infant mortality in British Columbia (BC) First Nations remains elevated relative to other residents. The p.P479L (c.1436C>T) variant of carnitine palmitoyltransferase 1 (CPT1A) is frequent in some aboriginal populations and may be associated with increased infant deaths. This work was initiated …

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Prevalence of carnitine palmitoyltransferase 1A (CPT1A) variant p.P479L and risk of infant mortality in Nunavut, Northwest Territories, and Yukon

Sorcha Collins

The p.P479L (c.1436C>T) variant of hepatic CPT1A is frequent in Inuit and British Columbia First Nations populations of Canada. CPT1A is a major regulatory point in long chain fatty acid oxidation in the liver. CPT1A deficiency is an autosomal recessive disorder that …

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

Sorcha Collins, Graham Sinclair, Sarah McIntosh, Fiona Bamforth et autres

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