The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

Human SCO1 and SCO2 are metallochaperones that are essential for the assembly of the catalytic core of cytochrome c oxidase (COX). Here we show that they have additional, unexpected roles in cellular copper homeostasis. Mutations in either SCO result in a cellular copper deficiency that is both tissue and allele specific.

Teaching pediatric laboratory medicine to pathology residents.

Context: Laboratory data are essential to the medical care of fetuses, infants, children, and adolescents. However, the performance and interpretation of laboratory tests on specimens from these patients, which may constitute a significant component of the workload in general hospitals and integrated health care systems as well as specialized perinatal or pediatric centers, present unique challenges to the clinical pathologist and the laboratory. Therefore, pathology residents should receive training in pediatric laboratory medicine.

Increased levels of mercury associated with high fish intakes among children from Vancouver, Canada.

Objective: To assess exposure to mercury (Hg) among children in population subgroups whose traditional dietary practices include fish.

Study Design: We determined blood Hg, red blood cell phosphatidylethanolamine omega-3 eicosapentaenoic acid as a marker of fish intake, and assessed indexes of childhood behavior in preschool children 1.5 to 5 years of age (n = 228) living in an ethnically diverse neighborhood in Vancouver, British Columbia, Canada.

A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.

We report a new mutation, Asn185Asp, in exon 6 of the ferroportin gene (FPN1) in 15 members of three successive generations of a Canadian family of Scandinavian origin with autosomal dominant hemochromatosis. Hyperferritinemia with low transferrin saturation was noted in younger family members, seven of whom were aged 20 years or less at the time of diagnosis. In those individuals first diagnosed with hemochromatosis in later life, marked hyperferritinemia was accompanied by high transferrin saturation.

Maternal-fetal risk assessment.

In first-world countries, maternal and infant mortality has significantly decreased over the past 50 years due to factors such as skilled pregnancy care practitioners, aseptic hospital births, antibiotics, safe blood transfusions, and oxytocin. However, international maternal and infant mortality statistics from underdeveloped countries remain high. Pregnancy risk management requires implementation of risk-reduction strategies that have been proven to be effective.