Cardiovascular Risk Factors and Adherence to Cardiovascular Protection Practice Guidelines in Adults With Type 1 Diabetes: A BETTER Registry Cross-sectional Analysis.

Objectives: Cardiovascular disease (CVD) is a major cause of morbidity and mortality in people with type 1 diabetes (PWT1D). We assessed cardiovascular risk factors and pharmacologic treatment in a large Canadian cohort of PWT1D.

Methods: This cross-sectional study used data from adult PWT1D in the BETTER registry (n=974).

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC) is an autosomal recessive disease of the central and peripheral nervous system that presents as early-onset polyneuropathy. Patients are hypotonic and areflexic from birth, with abnormal facial features and atrophic muscles. Progressive peripheral neuropathy eventually confines them to a wheelchair in the second decade of life, and death occurs by the fourth decade.

The histopathology of polymicrogyria: a series of 71 brain autopsy studies.

Aim: Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of fetal cases.

Method: We have reviewed the neuropathology and medical records of 44 fetuses and 27 children and adults in whom the cortical architecture was focally or diffusely replaced by one or more festooning bands of neurons.

Cerebral microsporidiosis manifesting as progressive multifocal leukoencephalopathy in an HIV-infected individual - a case report.

Microsporidia have become increasingly recognized as opportunistic pathogens since the genesis of the AIDS epidemic. The incidence of microsporidiosis has decreased with the advent of combination antiretroviral therapy but it is frequently reported in non-HIV immunosuppressed patients and as a latent infection in immunocompetent individuals. Herein, we describe an HIV-infected male (46 years) with suspected progressive multifocal leukoencephalopathy that has not responded to optimal antiretroviral therapy, steroids, or cidofovir.

Internationally comparable diagnosis-specific survival probabilities for calculation of the ICD-10-based Injury Severity Score.

Background: The International Statistical Classification of Diseases, 10th Revision (ICD-10)-based Injury Severity Score (ICISS) performs well but requires diagnosis-specific survival probabilities (DSPs), which are empirically derived, for its calculation. The objective was to examine if DSPs based on data pooled from several countries could increase accuracy, precision, utility, and international comparability of DSPs and ICISS.

Methods: Australia, Argentina, Austria, Canada, Denmark, New Zealand, and Sweden provided ICD-10-coded injury hospital discharge data, including in-hospital mortality status.

Changes in fall-related mortality in older adults in Quebec, 1981-2009.

Introduction: Our purpose was to evaluate changes in fall-related mortality in adults aged 65 years and over in Quebec and to propose a case definition based on all the causes entered on Return of Death forms.

Methods: The analysis covers deaths between 1981 and 2009 recorded in the Quebec vital statistics data.

Results: While the number of fall-related deaths increased between 1981 and 2009, the adjusted falls-related mortality rate remained relatively stable.

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.

Introduction: Erythromelalgia due to heterozygous gain-of-function SCN9A mutations usually presents as a pure sensory-autonomic disorder characterized by recurrent episodes of burning pain and redness of the extremities.

Methods: We describe a patient with an unusual phenotypic presentation of gross motor delay, childhood-onset erythromelalgia, extreme visceral pain episodes, hypesthesia, and self-mutilation. The investigation of the patient's motor delay included various biochemical analyses, a comparative genomic hybridization array (CGH), electromyogram (EMG), and muscle biopsy.

A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern.

Most conditions detected by expanded newborn screening result from deficiency of one of the enzymes that degrade acyl-coenzyme A (CoA) esters in mitochondria. The role of acyl-CoAs in the pathophysiology of these disorders is poorly understood, in part because CoA esters are intracellular and samples are not generally available from human patients. We created a mouse model of one such condition, deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase (HL), in liver (HLLKO mice).

Coronary artery dilatation and vasculitis in a case of rabies: similarity with Kawasaki disease?

A 9-year-old boy died of rabies complications. We report the unusual combination between rabies, coronary dilatation on echocardiography and coronary vasculitis documented upon autopsy. In the search for the etiological agent of Kawasaki disease, we suggest that a viral infection with potential antigenic similarities to rabies virus should be entertained.

Effect of a fall prevention program on balance maintenance using a quasi-experimental design in real-world settings.

Objectives: To examine the effect of a fall prevention program offered under real-world conditions on balance maintenance several months after the program. To explore the program's impact on falls.

Method: A quasi-experimental study was conducted among community-dwelling seniors, with pre- and postintervention measures of balance performance and self-reported falls.

Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster.

Background: We have recruited a group of four living and reviewed the records of six deceased distantly related French-Canadians of Acadian descent affected by a childhood-onset form of recessive limb-girdle muscular dystrophy (LGMD). All cases originate from the small archipelago of the Magdalen Islands (population: 13,000) isolated in the Gulf of St-Lawrence.

Methods: Based on the likely sharing of the same founder mutation we completed a 319K SNPs genome-wide scan to identify the disease locus and then screen candidate genes in this region.

Pituitary choriocarcinoma in an adolescent male: tumor-derived CG and GH delay diagnosis.

Background: Primary intracranial germ cell tumors usually present in the first two decades of life, often with precocious puberty. The most common location is in the pineal gland; suprasellar germ cell tumors are rare. We present an additional case of a suprasellar choriocarcinoma producing GH, and review the literature.

The clinical spectrum of nodular heterotopias in children: report of 31 patients.

Purpose: The phenotypic and etiologic spectrum in adults with nodular heterotopias (NHs) has been well characterized. However, there are no large pediatric case series. We, therefore, wanted to review the clinical features of NHs in our population.

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

Background: The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied.

Results: 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8).

Neuropathological homology in true Galloway-Mowat syndrome.

Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seizures, but many of the described cases focus on the renal pathology and emphasize a diversity of clinical and pathological features. The case described herein includes a thorough neuropathological description, and when the neuroradiology and neuropathology of the previously published cases is scrutinized, a fairly consistent clinical and neuropathological phenotype emerges.

Are intratympanic injections of N-acetylcysteine and methylprednisolone protective against Cisplatin-induced ototoxicity?

Objective: To identify and to compare the protective effect of intratympanic injections of N-acetylcysteine (NAC) or methylprednisolone to prevent cisplatin-induced ototoxicity, to investigate inner ear protection using an electron microscope and to evaluate the effect of 4% NAC on the middle ear.

Design: Experimental study.

Setting: Basic ear research center at Sainte-Justine hospital.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

The recently described human anion channel Anoctamin (ANO) protein family comprises at least ten members, many of which have been shown to correspond to calcium-activated chloride channels. To date, the only reported human mutations in this family of genes are dominant mutations in ANO5 (TMEM16E, GDD1) in the rare skeletal disorder gnathodiaphyseal dysplasia. We have identified recessive mutations in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.

Involvement of paraoxonase 1 genetic variants in Alzheimer's disease neuropathology.

Evidence suggests that the genes involved in brain lipid homeostasis are of particular relevance for Alzheimer's disease (AD) etiology. Among these genes, that encoding paraoxonase 1 (PON1) has gained newfound interest from a public health perspective, as recent studies have suggested that PON1 L55M and Q192R genetic variants might affect individual susceptibility to environmental events, such as exposure to cholinesterase inhibitors. Cholinesterase inhibitor therapy being the treatment of choice for patients with mild to moderate AD, we sought to answer two main questions: (i) are these genetic variants associated with increased AD risk, earlier age of onset/death, or shorter AD duration; and (ii) do they affect the neuropathological hallmarks of AD? This genetic study used a large cohort of clinical and autopsy-confirmed AD cases and age-matched, cognitively intact controls from the Douglas Hospital Brain Bank, Quebec, Canada (n = 1066).

c-Met activation in medulloblastoma induces tissue factor expression and activity: effects on cell migration.

Met, the receptor for hepatocyte growth factor (HGF), is a receptor tyrosine kinase that has recently emerged as an important contributor to human neoplasia. In physiological and pathological conditions, Met triggers various cellular functions related to cell proliferation, cell migration and the inhibition of apoptosis, and also regulates a genetic program leading to coagulation. Since medulloblastomas (MBs) express high levels of tissue factor (TF), the main initiator of blood coagulation, we therefore examined the link between Met and TF expression in these pediatric tumors.

Impact of a community-based falls prevention program on maintenance of physical activity among older adults.

Objective: This study examines the 9-month impact of a 12-week falls prevention program (called Stand Up!) which included balance exercises and educational components on maintenance of physical activity among community-dwelling seniors.

Method: Data were collected among 98 experimental and 102 control participants at baseline, immediately after the program and 9 months later. Involvement in physical activity was measured with three indicators.

Critical illness polyneuromyopathy in a child with severe demyelinating myelitis.

We report a child presenting with severe demyelinating myelitis complicated with critical illness polyneuropathy. This previously healthy 8-month-old boy presented with acute superior limb weakness, absent tendon reflexes, and respiratory failure. Spinal magnetic resonance imaging showed an extensive cervical demyelinating lesion.

Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene.

Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.