Phenotypes and genetic architecture of focal primary torsion dystonia.

Background: The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndromes and can be considered a genetic complex disease; it is thought to be primed by genetic variants with variable impact and triggered by non-genetic factors. Thorough clinical description of FPTDs cohorts is sparse but essential for further progress in genetic research.

Objective: To establish suggested relations between age at onset (AaO), site and family history in a large focal dystonias cohort and gain more insight into familial clustering for genetic research.

Characterization of a porcine intestinal epithelial cell line for influenza virus production.

We have developed a porcine intestine epithelial cell line, designated SD-PJEC for the propagation of influenza viruses. The SD-PJEC cell line is a subclone of the IPEC-J2 cell line, which was originally derived from newborn piglet jejunum. Our results demonstrate that SD-PJEC is a cell line of epithelial origin that preferentially expresses receptors of oligosaccharides with Sia2-6Gal modification.

Identifying antigenicity-associated sites in highly pathogenic H5N1 influenza virus hemagglutinin by using sparse learning.

Since the isolation of A/goose/Guangdong/1/1996 (H5N1) in farmed geese in southern China, highly pathogenic H5N1 avian influenza viruses have posed a continuous threat to both public and animal health. The non-synonymous mutation of the H5 hemagglutinin (HA) gene has resulted in antigenic drift, leading to difficulties in both clinical diagnosis and vaccine strain selection. Characterizing H5N1's antigenic profiles would help resolve these problems.

The effect of obstructive sleep apnea on amputation site healing.

Obstructive sleep apnea (OSA) is an independent risk for hypertension, cerebral artery stenosis, stroke and hypercoagulability.(1) Our research objective was to assess whether sleep disordered breathing affects the peripheral circulation, decreases perfusion as measured by TcPO2 and decreases the odds that a partial-foot amputation site will heal. We hypothesized that OSA would be an independent risk factor causing delayed healing of partial-foot amputations.

Reduced circulating oxidized LDL is associated with hypocholesterolemia and enhanced thiol status in Gilbert syndrome.

A protective association between bilirubin and atherosclerosis/ischemic heart disease clearly exists in vivo. However, the relationship between bilirubin and in vivo oxidative stress parameters in a clinical population remains poorly described. The aim of this study was to assess whether persons expressing Gilbert syndrome (GS; i.

Ultrasound applications in electrodiagnosis.

This review article discusses the current scope of high-resolution diagnostic ultrasound in the diagnosis of neuromuscular disease, both as a complementary tool to electrodiagnosis and in some cases as a stand-alone imaging modality. Indications, limitations, potential for research, and training and credentialing are discussed. Indications include needle guidance for nerve conduction studies and needle electromyography, diagnosis of nerve entrapment, diagnostic muscle imaging via grayscale analysis, and dynamic real-time imaging, including sonopalpation, to provide additional diagnostic information.

Low heritabilities, but genetic and maternal correlations between red squirrel behaviours.

Consistent individual differences in behaviour, and behavioural correlations within and across contexts, are referred to as animal personalities. These patterns of variation have been identified in many animal taxa and are likely to have important ecological and evolutionary consequences. Despite their importance, genetic and environmental sources of variation in personalities have rarely been characterized in wild populations.

Ethnic differences in utilization of youth mental health care.

Objectives: There is an overall underutilization of youth mental health care (YMHC). It is unknown whether underutilization differs per ethnic group. Therefore, this study is aimed at gaining insight into the effects of ethnicity, age and gender on this utilization.

Hematoma risk after needle electromyography.

Introduction: Although needle electromyography (EMG) appears to be a relatively safe procedure based primarily on clinical experience, no evidence-based guidelines exist for EMG procedures in patients taking anticoagulant or antiplatelet medications. We sought to determine whether there is an increased risk of hematoma formation after EMG of potentially high-risk muscles in patients taking anticoagulant or antiplatelet agents.

Methods: After undergoing routine EMG, if any of seven predetermined high-risk muscles were tested, study subjects then underwent ultrasound to evaluate for hematoma formation.

Risk of hematoma following needle electromyography of the paraspinal muscles.

The purpose of this study was to establish the incidence of MRI-detectable hematomas following paraspinal EMG. We provide a retrospective review of patients who underwent paraspinal EMG and subsequent concordant level spine MRI. A total of 370 charts (431 MRIs) met the inclusion criteria.

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.

Early-onset Parkinson's disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e.

Sonography in carpal tunnel syndrome.

Introduction: Our objective in this study was to assess the diagnostic utility of the median nerve cross-sectional area (CSA) at the wrist, the wrist-forearm ratio, and the wrist-forearm difference in patients with and without carpal tunnel syndrome (CTS).

Methods: Individuals with electrodiagnostically proven CTS and asymptomatic control subjects were recruited prospectively from among patients referred to our electrodiagnostic laboratory. Blinded measurements of CSA were made from transverse sonographic images of the median nerve at the wrist (pisiform) and mid-forearm.

H5N1 influenza virus pathogenesis in genetically diverse mice is mediated at the level of viral load.

Unlabelled: The genotype of the host is one of several factors involved in the pathogenesis of an infectious disease and may be a key parameter in the epidemiology of highly pathogenic H5N1 influenza virus infection in humans. Gene polymorphisms may affect the viral replication rate or alter the host's immune response to the virus. In humans, it is unclear which aspect dictates the severity of H5N1 virus disease.

Fatal outcome of pandemic H1N1 2009 influenza virus infection is associated with immunopathology and impaired lung repair, not enhanced viral burden, in pregnant mice.

Pandemic A (H1N1) 2009 influenza virus (pH1N1) infection in pregnant women can be severe. The mechanisms that affect infection outcome in this population are not well understood. To address this, pregnant and nonpregnant BALB/c mice were inoculated with the wild-type pH1N1 strain A/California/04/09.

Utility of ultrasound-guided surface electrode placement in lateral femoral cutaneous nerve conduction studies.

Introduction: Meralgia paresthetica is a common clinical complaint for which some patients ultimately undergo surgical treatment. The lateral femoral cutaneous nerve (LFCN) has been difficult to reliably test electrophysiologically, likely due to anatomic variability and lack of responses in asymptomatic obese subjects.

Methods: We compared a novel ultrasound-guided antidromic sensory nerve conduction study (NCS) with a technique described previously in a population of normal subjects, of whom 50% had body mass indices within the obese range (>27.

Accuracy of electromyography needle placement in cadavers: non-guided vs. ultrasound guided.

Introduction: Accuracy of needle electromyography is typically ensured by use of anatomical landmarks and auditory feedback related to voluntary activation of the targeted muscle; however, in certain clinical situations, landmarks may not be palpable, auditory feedback may be limited or not present, and targeting a specific muscle may be more critical. In such settings, image guidance might significantly enhance accuracy.

Methods: Two electromyographers with different levels of experience examined 14 muscles in each of 4 fresh-frozen cadaver lower limbs.

Genetic composition of contemporary swine influenza viruses in the West Central region of the United States of America.

Background: Because of continuous circulation in different animal species and humans, influenza viruses have host-specific phenotypic and genetic features. Reassortment of the genome segments can significantly change virus phenotype, potentially generating virus with pandemic potential. In 2009, a new pandemic influenza virus emerged.

Recent advances in progressive supranuclear palsy: a review.

Progressive Supranuclear Palsy has been used over decades as a term denoting an uniform disorder with progressive parkinsonism with early falls, vertical supranulcear gaze palsy, pseudobulbar dysfunction and cognitive decline. Over the last decade, heterogeneity of the disease into different clinical subtypes has been recognized in clinicopathological studies. Although neuroimaging features and laboratory findings may support the diagnosis, true biomarkers are still lacking in the clinical setting.