The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Importance: Ichthyoses are clinically and genetically heterogeneous disorders characterized by scaly skin. Despite decades of investigation identifying pathogenic variants in more than 50 genes, clear genotype-phenotype associations have been difficult to establish.

Objective: To expand the genotypic and phenotypic spectra of ichthyosis and delineate genotype-phenotype associations.

Clusters of Injuries From Motorcycle Collisions: Exploratory Factor Analysis of a Single Institution Trauma Registry.

Objective With the goal of guiding acute management of associated injuries motorcycle trauma patients, this study aims to identify patterns of associated injuries after motorcycle collisions using exploratory factor analysis. Methods We conducted a retrospective review at a Level 1 trauma center of all patients who presented after motorcycle collisions resulting in trauma system activations between July 2, 2002 and December 31, 2013. We performed exploratory factor analysis on this dataset to identify sets of injuries that cluster together.

A review of common motorcycle collision mechanisms of injury.

Injuries sustained in motorcycle collisions can be organized into distinct patterns to improve recognition and treatment.Lowside, highside, topside, and collision are the four main categories of motorcycle crash types.Within those four crash types, mechanisms of injury include head-leading collisions, direct vertical impact, motorcycle radius, motorcycle thumb, fuel tank injures, limb entrapment, tyre-spoke injury, and crash modifying manoeuvre.

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusively recessive. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer.

Clues to primary vismodegib resistance lie in histology and genetics.

Basal cell carcinoma (BCC) is the most common human malignant neoplasm. However, there are multiple BCC subtypes that share clinical features while demanding different management. We present a case of a woman with hundreds of BCCs throughout her body that were resistant to vismodegib and without other features of basal cell nevus syndrome.

Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

Background: Congenital smooth muscle hamartomas (CSMHs) are benign lesions that share clinical and histopathological features with Becker nevus, a mosaic disorder associated with post-zygotic ACTB mutations. Given the clinical and histopathological overlap between CSMH and Becker nevus, we hypothesized that post-zygotic mutations in ACTB may underlie CSMH.

Methods: Direct sequencing of ACTB gene in affected and unaffected tissue isolated from one case of hemihypertrichosis and hemihypertrophy corresponding to giant segmental CSMH and hemihypertrophy.

Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.

Appearance of mosaic disorders in thin Blaschko lines suggests that somatic mutations in keratinocyte precursors underlie their pathogenesis. Germline heterozygous mutations in POFUT1 gene cause Dowling-Degos disease (DDD), a skin disease that features flexural reticulated hyperpigmentation and follicular-based lesions. POFUT1 mosaicism has not been described to date.

Association of the Severity of Alopecia With the Severity of Ichthyosis.

This study assesses the association between the severity of alopecia and ichthyosis disease severity and characterizes the severity of alopecia by genotype.

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP).

Recent advances in understanding inherited disorders of keratinization.

The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier function is a cardinal feature of the ichthyoses, which results in compensatory hyperproliferation and transepidermal water loss.

Complexities of Perioperative Pain Management in Orthopedic Trauma.

Purpose Of Review: This review discusses both obvious and hidden barriers in trauma patient access to pain management specialists and provides some suggestions focusing on outcome optimization in the perioperative period.

Recent Findings: Orthopedic trauma surgeons strive to provide patients the best possible perioperative pain management, while balancing against potential risks of opioid abuse and addiction. Surgeons often find they are ill-prepared to effectively manage postoperative pain in patients returning several months following trauma surgery, many times still dependent on opioids for pain control.

The effect of insurance type on trauma patient access to psychiatric care under the Affordable Care Act.

Objective: The objective of the study was to assess the effect of insurance type (Medicaid, Medicare, private insurance or cash pay) on patients' access to psychiatrists for a new patient consultation.

Method: 240 psychiatrists identified as interested in treating patients with PTSD were called across 8 states. The caller requested an appointment for her fictitious boyfriend who had been in a car accident to be evaluated for PTSD.

The Effect of Insurance Type on Fragility Fracture Patient Access to Endocrinology Under the Affordable Care Act.

Objectives: To assess the effect of insurance type (Medicaid, Medicare, and private insurance) on fragility fracture patients' access to endocrinology specialists in the postoperative period.

Materials And Methods: The research team called 247 board-certified endocrinologists in 8 representative states. The caller requested an appointment for her fictitious mother to be evaluated for osteoporosis after suffering a hip fracture that required surgery.

Preclinical endoscopic training using a part-task simulator: learning curve assessment and determination of threshold score for advancement to clinical endoscopy.

Background: Preclinical simulator training has the potential to decrease endoscopic procedure time and patient discomfort. This study aims to characterize the learning curve of endoscopic novices in a part-task simulator and propose a threshold score for advancement to initial clinical cases.

Methods: Twenty novices with no prior endoscopic experience underwent repeated endoscopic simulator sessions using the part-task simulator.

Influence of Medical Insurance Under the Affordable Care Act on Access to Pain Management of the Trauma Patient.

Background And Objectives: The Affordable Care Act intended to "extend affordable coverage" and "ensure access" for vulnerable patient populations. This investigation examined whether the type of insurance (Medicaid, Medicare, Blue Cross, cash pay) carried by trauma patients influences access to pain management specialty care.

Methods: Investigators phoned 443 board-certified pain specialists, securing office visits with 235 pain physicians from 8 different states.