Highlights

Genetic mutations among Inuit

A common genetic mutation, SI c.273_274delAG, appears to be responsible for the high prevalence of congenital sucrase–isomaltase deficiency among Inuit people, according to the findings of this study that involved genotyping of a single affected proband and 128 Inuit controls from across the Canadian Arctic. See Research, page 102

A founder mutation, a homozygous frameshift deletion (c.4456delT) in exon 33 of the AGL gene was found by whole-exome sequencing in this case series involved five Inuit children from Nunavik with clinical diagnosis of glycogen storage disease type IIIa. This finding may have implications for neonatal screening in a population with a relatively high prevalence of this disease. See Research, page E68

Canadian initiatives to find causative mutations for rare genetic disorders are paying off and may result in screening initiatives, allowing early treatment. See Commentary, page 93

HPV vaccine and sexual activity

HPV vaccine for adolescent girls does not appear to be associated with increased sexual activity. In this comprehensive study of Ontario girls, there was no increase in pregnancies or sexually transmitted infections among girls who received the vaccine or those who were of an age to be eligible for the vaccination program. See Research, page E74

Cancer of the anus and AIN

Infection with oncogenic strains of HPV causes 80%–90% of anal cancers. The incidence of anal cancer has increased in certain populations. Premalignant lesions can be identified and treated in the office setting — similar to noninvasive malignant lesions of the cervix. Medford and Salit discuss the merits and methods of screening for anal intraepithelial neoplasia and preventing anal cancer. See Review, page 111

Evidence for CHEP 2013/2014 updates

What evidence supports the updated recommendations from the Canadian Hypertension Education Program? This analysis article reviews the new studies that changed recommendations around sodium intake, threshold for starting pharmacotherapy in older adults, resistance training and target blood pressure levels in patients with coronary artery disease. See Analysis, page 116

Investigating suspected sacroiliitis

What testing should be undertaken for patients with possible axial spondyloarthritis? Do all require imaging of the sacroiliac joints? Do all require HLA-B27 testing? In this installment of the Choosing Wisely Canada series, Chow and Haroon outline an approach to making the diagnosis in these patients. See Decisions, page 124

Brazilian waxing and HPV

A 48-year-old woman had a purplish-red rash in her pubic area after Brazilian waxing. The trauma of the procedure had induced acquired epidermodysplasia verruciformis in this patient who was taking immunosuppressive medication after renal and pancreatic transplants. Kirchhof and Au caution that immunosuppressed patients are at increased risk of this previously rare skin disorder. See Cases, page 126

Delirium

Delirium is distressing for both patients and families, and recovery rates are particularly poor in older patients. In this installment of the Choosing Wisely Canada series, Bush and Lawlor collate useful resources and information around diagnosis, prevention and treatment of this common condition. See Five things to know about …, page 129

Floppy eyelid syndrome

Floppy eyelid syndrome was diagnosed in a 52-year-old man after presenting with redness and irritation of his left eye. Associated with obstructive sleep apnea and obesity, floppy eyelid syndrome can cause inversion of the eyelashes and result in corneal inflammation, say Belliveau and Harvey. See Clinical images, page 130