Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Genomic rearrangements such as intragenic deletions and duplications are the most prevalent type of mutations in the dystrophin gene resulting in Duchenne and Becker muscular dystrophy (D/BMD). These copy number variations (CNVs) are nonrecurrent and can result from either nonhomologous end joining (NHEJ) or microhomology-mediated replication-dependent recombination (MMRDR). We characterized five DMD patients with complex genomic rearrangements using a combination of MLPA/mRNA transcript analysis/custom array comparative hybridization arrays (CGH) and breakpoint sequence analysis to investigate the mechanisms for these rearrangements.

Summary of recommendations for the diagnosis and treatment of malaria by the Committee to Advise on Tropical Medicine and Travel (CATMAT).

Background: On behalf of the Public Health Agency of Canada, the Committee to Advise on Tropical Medicine and Travel (CATMAT) developed the for Canadian health care providers who are preparing patients for travel to malaria-endemic areas and treating travellers who have returned ill. These recommendations aim to achieve appropriate diagnosis and management of malaria, a disease that is still uncommon in Canada.

Objective: To provide recommendations on the appropriate diagnosis and treatment of malaria.

Summary of recommendations for the prevention of malaria by the Committee to Advise on Tropical Medicine and Travel (CATMAT).

Background: On behalf of the Public Health Agency of Canada, the Committee to Advise on Tropical Medicine and Travel (CATMAT) developed the for Canadian health care providers who are preparing patients for travel to malaria-endemic areas and treating travellers who have returned ill.

Objective: To provide guidelines on risk assessment and prevention of malaria.

Methods: CATMAT reviewed all major sources of information on malaria prevention, as well as recent research and national and international epidemiological data, to tailor guidelines to the Canadian context.

Intraoperative neurophysiological monitoring during circulatory arrest using deep hypothermia: A case report during brain aneurysm clipping.

Neuroprotection is the main goal during procedures that involve circulatory arrest using hypothermia. This case report describes the role intraoperative neurophysiological monitoring (IONM) plays and describes the sensitivity of specific modalities used intraoperatively to identify changes and intervene in a timely manner Understanding the contributing factors and IONM changes during hypothermia helps the neuroelectrophysiology monitorist and the surgeon to provide optimal care while minimizing morbidity. In this report we describe the role of IONM from the monitorist's perspective, describing the surgical procedure and the sequence of events.

Use of C-reactive protein in children with newly diagnosed inflammatory bowel disease.

C-reactive protein (CRP), a marker for inflammation, was evaluated with other routine blood tests in children with newly diagnosed inflammatory bowel disease. Evaluation of CRP level helped identify additional patients found to have inflammatory bowel disease at endoscopy, although a sizeable number of patients with mild ulcerative colitis had a normal CRP level.

The complex triplane fracture: ipsilateral tibial shaft and distal triplane fracture.

Background: The complex triplane fracture (ipsilateral tibial shaft and distal tibial triplane fracture) is a rare combination. It has not previously been described in the literature. This combination can be easily overlooked and has the potential for serious sequelae if it is missed.