Differences between stance and foot preference evident in Osprey (Pandion haliaetus) fish holding during movement.

Background: Skateboarders, snowboarders, and surfers all show stance preferences for which foot is forward while moving. We are unaware of other animals than humans with a stance preference, perhaps excepting Osprey, who fly their caught fish beneath them in a foot-forward stance. We hypothesize there should be no difference between left foot forward, right foot back (conventional) versus right foot forward left foot back (goofy) stances or for fish holding with unilateral left or right foot.

Factors influencing patients' receptiveness to evidence-based recommendations during the clinical encounter.

Aim: To identify the factors that promote or interfere with evidence-based clinical decisions from the patient perspective.

Materials & Methods: We developed four hypothetical scenarios with clinical decisions, such as whether to pursue testing for a chronic condition. We conducted eight focus groups to better understand the influences on individuals' decisions in the context of the scenarios.

Cutaneous phaeohyphomycosis caused by Paraconiothyrium cyclothyrioides.

Paraconiothyrium cyclothyrioides is a recently described coelomycetous fungal species. We present a case in a renal transplant patient with chronic skin lesions of the lower extremities caused by P. cyclothyrioides.

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Objective: To identify rare variants contributing to multiple sclerosis (MS) susceptibility in a family we have previously reported with up to 15 individuals affected across 4 generations.

Methods: We performed exome sequencing in a subset of affected individuals to identify novel variants contributing to MS risk within this unique family. The candidate variant was genotyped in a validation cohort of 2,104 MS trio families.

Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

Excess weight is a known risk factor for coronary artery disease (CAD) and a large percentage of overweight and obese individuals ultimately develop CAD. The objective of this study was to identify human genes associated with CAD in a subgroup of overweight and obese individuals using population-based association methods. Logistic regression analyses were used to test the association between single nucleotide polymorphisms (SNPs) in 34 candidate genes and the CAD phenotype with age, gender, and BMI as covariates.

Rare variants in the CYP27B1 gene are associated with multiple sclerosis.

Objective: Multiple sclerosis (MS) is a complex neurological disease. Genetic linkage analysis and genotyping of candidate genes in families with 4 or more affected individuals more heavily loaded for susceptibility genes has not fully explained familial disease clustering.

Methods: We performed whole exome sequencing to further understand the heightened prevalence of MS in these families.

Unknown: Yellow plaques on the chest and arms present for more than 6 years in an 80-year-old male. Diffuse normolipemic plane xanthomas presenting in association with myelodysplastic syndrome.

Yellow plaques and papules on the skin are hallmarks of xanthomas. These are not always associated with abnormalities in lipid profiles or their associated proteins. In cases of diffuse normolipemic plane xanthomas these cutaneous findings are often associated with myelodyscrasias including monoclonal gammopathy of unknown significance and multiple myeloma.

Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians.

Background: Multiple sclerosis (MS) is determined by interactions between genes and environment and the influence of vitamin D adequacy has been proposed. Previous studies have shown that serum 25-hydroxyvitamin D (25(OH)D) levels are genetically influenced. Polymorphisms in vitamin D pathway genes are candidates for association with MS susceptibility.

Epidermodysplasia verruciformis and susceptibility to HPV.

Epidermodysplasia verruciformis has been addressed in depth in the recent literature despite its rarity. The disease is characterized by a persistence in human papillomavirus infections and development of cutaneous malignancies, usually happening more frequently and at a younger age than in the general population. Because of the role of immunodeficiency to viral antigens eventually leading to cancer, EV has become a model for understanding a viral role in cutaneous oncogenesis.

Clear cell acanthoma: a rare clinical diagnosis prior to biopsy.

Background: Clear cell acanthoma is a rare, benign epidermal tumor with a clinical hybrid appearance and a distinct histological one. It is frequently mistaken for other clinical lesions.

Objective: To evaluate the frequency that clear cell acanthoma was listed in the clinical differential diagnosis of histologically confirmed specimens.

Infection and panniculitis.

Infection-induced panniculitis may result from a number of microbes including bacteria, fungi, and parasites. Viruses have also been implicated as a cause. This type of panniculitis can occur as a primary infection by direct inoculation of infectious microorganisms into the subcutaneous tissue, or secondarily via microbial hematogenous dissemination with subsequent infection of the subcutaneous tissue.

IGHV4-39 deletion polymorphism does not associate with risk or outcome of multiple sclerosis.

The restricted use of immunoglobulin heavy chain variable (IGHV) family 4 gene segments by clonally expanded B cells in brain lesions and cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients is well documented. Specifically, the overrepresentation of gene IGHV4-39 has been highlighted in multiple studies. To investigate the role of IGHV4-39 in MS, we screened 193 MS cases, representing the extremes of clinical outcome (benign and malignant), and 187 controls for a previously reported germline deletion polymorphism containing IGHV4-39.

Shingles vaccine.

Importance Of The Field: Herpes zoster or shingles is a condition with the potential to result in severe debilitation. It affects approximately 10 - 30% of the population. Until recently there were only treatments to shorten the duration and lessen the symptoms of herpes zoster, but no practical or approved method of prevention for susceptible immunocompetent adults.

Persistent cutaneous hyperpigmentation due to hydroxychloroquinone one year after therapy discontinuation.

Hydroxychloroquine (HCQ) was initially indicated for the treatment of malaria, but more recently its anti-inflammatory and immune modulating properties have been utilized for treatment of multiple dermatologic and rheumatologic diseases. Mucocutaneous bluish-gray dyschromia is a rare side effect with HCQ and little information exists regarding its duration after drug discontinuation. The few existing case reports primarily describe small focal areas of discoloration.

Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families.

Multiple sclerosis (MS) is a complex trait with a significant genetic component. Recent work has implicated the ST8SIA1 gene, encoding a ganglioside synthase, in susceptibility to the disease, perhaps with a parent-of-origin effect. In this investigation of 1318 MS patients from 756 Canadian families, we analysed the transmission of the four single nucleotide polymorphisms in ST8SIA previously shown to be associated with MS.

Methylation of class II transactivator gene promoter IV is not associated with susceptibility to multiple sclerosis.

Background: Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been previously been shown to alter its function. In this study we sought to assess whether or not methylation of the MHC2TA promoter pIV could contribute to MS disease aetiology.

Analysis of 45 candidate genes for disease modifying activity in multiple sclerosis.

Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for its variability in disease outcome. As little is conclusively known about MS disease mechanisms, we have selected a variety of candidate genes that may influence the prognosis of the disease based on their function. A cohort of sporadic MS cases, taken from opposite extremes of the putative distribution of long-term outcome using the most stringent clinical criteria to date, was used to determine the role of on MS disease severity.

A genome-wide scan in forty large pedigrees with multiple sclerosis.

The epidemiology of multiple sclerosis suggests that a complex interaction of genes and environment contribute to susceptibility. To enrich for families with large genetic effects and to potentially reduce genetic heterogeneity, we screened a sample of 18,794 probands and identified forty families with four or more affected individuals. Within these 40 families, HLA DRB1*15 was present in 70% of affected individuals; the transmission disequilibrium test showed a significant excess in transmission of DRB1*15 alleles to affected individuals (47 transmitted, 19 untransmitted, chi (2) = 11.

Association between microchimerism and multiple sclerosis in Canadian twins.

Microchimerism, the persistence of foreign cells thought to derive from previous pregnancies, has been associated with autoimmune diseases. A maternal parent-of-origin effect in MS remains unexplained. We tested for microchimerism in monozygotic and dizygotic twin-pairs with MS.

The high morbidity associated with handlebar injuries in children.

Background: Although injury prevention strategies for bicyclists have focused on legislation requiring helmet use to prevent head trauma, direct impact handlebar injuries account for a significant proportion of bicycle-related injuries. Little attention, however, has been paid to strategies that prevent direct impact handlebar injuries. We reviewed our experience with bicycle-related injuries and compared outcome for children who flipped over the handlebars to those for children who sustained direct impact from the handlebars.

Duodenal injuries in children: beware of child abuse.

Purpose: It is frequently overlooked that child abuse may result in significant intraabdominal injury, particularly to the duodenum. The authors hypothesized that a significant number of duodenal injuries in young children would be the result of nonaccidental trauma.

Methods: An 8-year (1995 through 2002) retrospective review of a pediatric level I trauma center database was performed after Institutional Review Board approval was obtained, and information regarding patients with duodenal injury was abstracted.

Effect of age on cervical spine injuries in children after motor vehicle collisions: effectiveness of restraint devices.

Purpose: Despite the devastating consequences of cervical spine (C-spine) injury in children after motor vehicle collisions (MVC), the factors leading to the injury and the appropriateness of protective restraints remain undefined. The authors hypothesized that age-related anatomic factors contribute to inadequate restraints and therefore increase injury severity after MVC.

Methods: Data on children (<18 years, 1997 to 2002) admitted to a level 1 pediatric trauma center were prospectively collected and retrospectively reviewed.