Neck motion kinematics: an inter-tester reliability study using an interactive neck VR assessment in asymptomatic individuals.

Background And Purpose: The use of virtual reality (VR) for assessment and intervention of neck pain has previously been used and shown reliable for cervical range of motion measures. Neck VR enables analysis of task-oriented neck movement by stimulating responsive movements to external stimuli. Therefore, the purpose of this study was to establish inter-tester reliability of neck kinematic measures so that it can be used as a reliable assessment and treatment tool between clinicians.

Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.

Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over the upper part of the body, along with other findings compatible with BCNS.

Childhood Pemphigus Foliaceus with Exclusive Immunoglobulin G Autoantibodies to Desmocollins.

Pemphigus refers to a group of potentially fatal blistering skin diseases that are often due to the deleterious effects of autoantibodies directed against desmosomal antigens. Although desmogleins have been mainly implicated as autoantigens in pemphigus, a steadily growing body of evidence suggests that other desmosomal proteins may be causally involved as well. Antibodies directed against desmocollin-3 have been shown to play a direct role in the pathogenesis of several types of pemphigus.

Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation.

Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) gene cause the cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome. In this study, we created total (Snap29(-/-)) as well as keratinocyte-specific (Snap29(fl/fl)/K14-Cre) Snap29 knockout mice. Both mutant mice exhibited a congenital distinct ichthyotic phenotype resulting in neonatal lethality.

NB-UVB phototherapy for generalized granuloma annulare.

Granuloma annulare (GA) is a benign, usually self-limited, granulomatous skin disease of unknown etiology. The generalized form of the disease shows a more chronic, relapsing course, rare spontaneous resolution, and poorer response to therapy. Psoralen plus UVA phototherapy has been reported to be effective for GA.

Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment.

Sex differences in the relationships between parasympathetic activity and pain modulation.

Higher parasympathetic activity is related to lower pain perception in healthy subjects and pain patients. We aimed to examine whether this relationship depends on sex, in healthy subjects. Parasympathetic activity was assessed using time- and frequency-domain heart rate variability indices and deep breathing ratio.

How Accountable Care Organizations Responded to Pediatric Incentives in the Alternative Quality Contract.

Objective: From 2009 to 2010, 12 accountable care organizations (ACOs) entered into the alternative quality contract (AQC), BlueCross BlueShield of Massachusetts's global payment arrangement. The AQC included 6 outpatient pediatric quality measures among 64 total measures tied to pay-for-performance bonuses and incorporated pediatric populations in their global budgets. We characterized the pediatric infrastructure of these adult-oriented ACOs and obtained leaders' perspectives on their ACOs' response to pediatric incentives.

Psychological Factors and Conditioned Pain Modulation: A Meta-Analysis.

Objective: Conditioned pain modulation (CPM) responses may be affected by psychological factors such as anxiety, depression, and pain catastrophizing; however, most studies on CPM do not address these relations as their primary outcome. The aim of this meta-analysis was to analyze the findings regarding the associations between CPM responses and psychological factors in both pain-free individuals and pain patients.

Materials And Methods: After a comprehensive PubMed search, 37 articles were found to be suitable for inclusion.

CPM Test-Retest Reliability: "Standard" vs "Single Test-Stimulus" Protocols.

Objectives: Assessment of pain inhibitory mechanisms using conditioned pain modulation (CPM) is relevant clinically in prediction of pain and analgesic efficacy. Our objective is to provide necessary estimates of intersession CPM reliability, to enable transformation of the CPM paradigm into a clinical tool.

Design: Two cohorts of young healthy subjects (N = 65) participated in two dual-session studies.

Restless legs syndrome in stroke patients.

Background: Restless legs syndrome (RLS) is associated with cerebrovascular risk factors, but its possible association with cerebrovascular disease has yielded conflicting results.

Objective: This was a case-control, in-hospital study to evaluate the association between RLS and acute stroke or transient ischemic attack (TIA).

Methods: We evaluated patients hospitalized with acute stroke/TIA and an age and gender 2:1 frequency-matched control group, for the presence of RLS.

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

Background: Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 gene (DSG1). To date, only 3 families have been reported.

Objective: We studied a new case of SAM syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic, immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular mechanisms in this rare genodermatosis.

RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.

Alopecia-neurological defects-endocrinopathy (ANE) syndrome is a rare inherited hair disorder, which was shown to result from decreased expression of the RNA-binding motif protein 28 (RBM28). In this study, we attempted to delineate the role of RBM28 in hair biology. First, we sought to obtain evidence for the direct involvement of RBM28 in hair growth.

The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle.

Adherens junctions (AJs) are one of the major intercellular junctions in various epithelia including the epidermis and the follicular epithelium. AJs connect the cell surface to the actin cytoskeleton and comprise classic transmembrane cadherins, such as P-cadherin, armadillo family proteins, and actin microfilaments. Loss-of-function mutations in CDH3, which encodes P-cadherin, result in two allelic autosomal recessive disorders: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndromes.

Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.

Background: Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare hereditary, autosomal dominant, auto-inflammatory disease caused by mutations in the PSTPIP1 gene, which encodes proline-serine-threonine phosphatase interacting protein 1. The fact that PSTPIP1 is involved in immune regulation provides a rationale for treatment of this rare disease with interleukin (IL)-1 signalling blocking agents.

Aim: We investigated a 33-year-old man with a long-standing history of ulcerative colitis, severe acne and recurrent skin ulcerations, and a 3-year history of a recalcitrant pustular rash.

Novel TGM5 mutations in acral peeling skin syndrome.

Acral peeling skin syndrome (APSS, MIM #609796) is a rare autosomal recessive disorder characterized by superficial exfoliation and blistering of the volar and dorsal aspects of hands and feet. The level of separation is at the junction of the stratum granulosum and stratum corneum. APSS is caused by mutations in the TGM5 gene encoding transglutaminase-5, which is important for structural integrity of the outermost epidermal layers.

Inherited desmosomal disorders.

Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins and desmoplakin, which form the intracytoplasmic desmosomal plaque. Desmosomal genodermatoses are caused by mutations in genes encoding the various desmosomal components.

Light touch and medio-lateral postural stability during short distance gait.

While standing, light fingertip touch on an external stable object attenuates sway and improves balance in healthy adults as well as in individuals with poor postural control. The effect of light touch on balance during gait is, however, not well known. Therefore, the purpose of this work was to study the effects of light fingertip touch on balance during gait.

Definitions and outcome measures for mucous membrane pemphigoid: recommendations of an international panel of experts.

Mucous membrane pemphigoid encompasses a group of autoimmune bullous diseases with a similar phenotype characterized by subepithelial blisters, erosions, and scarring of mucous membranes, skin, or both. Although knowledge about autoimmune bullous disease is increasing, there is often a lack of clear definitions of disease, outcome measures, and therapeutic end points. With clearer definitions and outcome measures, it is possible to directly compare the results and data from various studies using meta-analyses.