Seronegative Catastrophic Antiphospholipid Syndrome: A Case Report of a Deadly Diagnosis.

Catastrophic antiphospholipid syndrome (CAPS) is a rare autoimmune condition that causes diffuse hypercoagulability affecting multiple organ systems. Typically, CAPS is diagnosed via serological workup, clinical findings, or histopathological findings. However, patients with clinical features of CAPS have been found to be seronegative.

The Moderating Effect of Sex on Autistic Trait Emotional Intelligence, Alexithymia, and Empathy.

Autism spectrum disorder (ASD) is associated with differences in social communication, and these differences are related to trait emotional intelligence (TEI), alexithymia, and empathy. Autism is known to present differently in males and females, but research on sex differences in TEI, alexithymia, and empathy is largely relegated to non-autistic people. Therefore, the current research sought to explore individual relationships between autistic characteristics and TEI, alexithymia, and empathy, as well as the possible influence of sex in these relationships.

Emotion dysregulation in autism: A meta-analysis.

Autistic people often experience other mental health challenges, which makes it particularly important to understand factors that may contribute to the development of these conditions. Emotion dysregulation, or difficulties in effectively regulating one's own emotions in response to a changing environment, is one factor that is experienced frequently by autistic and non-autistic people and is commonly related to a wide range of mental health conditions. This article represents a quantitative synthesis of the current state of the literature on emotion dysregulation, with a specific focus on how the severity of emotion dysregulation differs across autistic and non-autistic people across the lifespan.

Integrated Osteopathic-Neurologic Examinations With Musculoskeletal Treatment: The ONE Approach.

The global burden of neurologic disorders is a leading cause of disability and death worldwide and has increased the demand for treatments and rehabilitation. Our proposed integrated osteopathic-neurologic examination (ONE) provides the physician with expanded diagnostic and point-of-care treatment modalities while allowing the physician to make a more tangible effect in patient care. By incorporating the osteopathic structural somatic examination with the complete neurologic evaluation, somatic dysfunction, occurring as a consequence or independent of neurologic injury, can be identified and treated using osteopathic manipulative techniques at time of visit.

Utilizing timed categorical recall (naming US cities) for rapid bedside dementia screening.

The availability of fast validated screening for dementia is a critical clinical need to improve neurologic examination time efficiency. This study validated a 1-minute timed categorical recall (TCR) method, naming as many US cities as possible and compared TCR to the Folstein Minimental Status Exam (MMSE) as a preliminary cognitive screening tool. Random uncompensated 349 volunteers were recruited ages 18 to 97 from local free clinics, retirement homes, university faculty, and students in Lynchburg, Virginia 2015 to 2020.

Performance- and Theater-Based Interventions for Supporting Social Cognition and Social Communication in Autistic Youth: A Review and Theoretical Synthesis.

Social skills interventions (SSIs) are commonly used to improve social functioning in youth with autism spectrum disorder (ASD), which is a condition characterized by differences in social cognition and social communication. Although more traditional SSIs have used knowledge-based, didactic instruction, recent research has explored the utility of performance-based SSIs, which use various activities to support implicit learning of social skills in supportive, enriched environments. This article reviews the extant literature evaluating the effectiveness or efficacy of five performance-based SSIs using theater-based approaches on social cognition and social communication.

DEAD-Box RNA Helicases and Genome Stability.

DEAD-box RNA helicases are important regulators of RNA metabolism and have been implicated in the development of cancer. Interestingly, these helicases constitute a major recurring family of RNA-binding proteins important for protecting the genome. Current studies have provided insight into the connection between genomic stability and several DEAD-box RNA helicase family proteins including DDX1, DDX3X, DDX5, DDX19, DDX21, DDX39B, and DDX41.

RNA helicase, DDX3X, is actively recruited to sites of DNA damage in live cells.

Recent studies have suggested that human RNA helicase, DDX3X, is important for DNA repair, but little is known about the nuclear activity of this protein. In vitro analysis of nuclear DDX3X interactions and localization with DNA damage pointed to a direct role for DDX3X in the DNA damage response. We aimed to investigate whether DDX3X plays a direct role in the DNA damage response in live cells.

Tranexamic acid to reduce head injury death in people with traumatic brain injury: the CRASH-3 international RCT.

Background: Tranexamic acid safely reduces mortality in traumatic extracranial bleeding. Intracranial bleeding is common after traumatic brain injury and can cause brain herniation and death. We assessed the effects of tranexamic acid in traumatic brain injury patients.

Preclinical development of T-cell receptor-engineered T-cell therapy targeting the 5T4 tumor antigen on renal cell carcinoma.

5T4 (trophoblast glycoprotein, TPBG) is a transmembrane tumor antigen expressed on more than 90% of primary renal cell carcinomas (RCC) and a wide range of human carcinomas but not on most somatic adult tissues. The favorable expression pattern has encouraged the development and clinical testing of 5T4-targeted antibody and vaccine therapies. 5T4 also represents a compelling and unexplored target for T-cell receptor (TCR)-engineered T-cell therapy.

Cosmetic benefits of a novel biomimetic lamellar formulation containing niacinamide in healthy females with oily, blemish-prone skin in a randomized proof-of-concept study.

Objective: A randomized study was designed to evaluate the potential cosmetic benefit of a biomimetic, niacinamide-containing moisturizing cream in oily, blemish-prone skin.

Methods: Healthy adult women with oily, blemish-prone skin were randomized to one of three treatment groups: test, control, or positive control. In the test group, subjects used the test product (containing 4% niacinamide), plus the standard cleanser (Simple® Kind to Skin Moisturizing Facial Wash).

Cosmetic use of three topical moisturizers following glycolic acid facial peels.

Background: Facial chemical exfoliation (peeling) involves using a chemical agent to insult the skin and damage the cutaneous barrier, to reduce the signs of aging. The use of a moisturizer is advised postprocedure to promote repair of the epidermis. Biomimic moisturizer formulations may be effective treatment options for repair following facial peeling.

A Randomized Controlled Tolerability Study to Evaluate Reformulated Benzoyl Peroxide Face Washes for Acne Vulgaris.

Introduction: This randomized, evaluator-blind, single-center, parallel-group study sought to evaluate the tolerability of two reformulated face washes containing benzoyl peroxide (BPO) in adults with mild to moderate acne vulgaris. Methods: Healthy adults with mild to moderate acne vulgaris were randomly allocated (1:1:1) to one of two reformulated test products (containing BPO at a concentration of either 4% or 10%) or an older formulation containing 10% BPO (reference product), which they applied twice daily for 21±2 days. The primary tolerability assessment was clinical assessment of signs and symptoms of cutaneous irritation by a dermatologist.

Cosmetic benefit of a biomimetic lamellar cream formulation on barrier function or the appearance of fine lines and wrinkles in randomized proof-of-concept clinical studies.

Objective: Two studies were designed to evaluate the potential cosmetic benefit of a biomimetic, niacinamide-containing moisturizing cream for the first time in humans.

Methods: In both studies, healthy women were randomized to use two treatments, one for the left side of the body and one for the right, from three options: the test cream, a positive control or no treatment (use of standard cleanser only). Treatments were applied twice daily for 4 weeks to the face and forearms (Study 1) or the face only (Study 2).

Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

Purpose: Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in a representative clinical sample.

Methods: Patients referred for clinical BRCA1/2 testing from 2002 to 2012 were invited to donate a research blood sample.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors.

Presymptomatic risk assessment for chronic non-communicable diseases.

The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for pre-symptomatic risk assessment. Common single nucleotide polymorphisms (SNPs) that tag risk haplotypes across the genome currently account for a non-trivial portion of the germ-line genetic risk and we will likely continue to identify the remaining missing heritability in the form of rare variants, copy number variants and epigenetic modifications.

Consumer perceptions of direct-to-consumer personalized genomic risk assessments.

Purpose: To evaluate consumer perceptions of direct-to-consumer personalized genomic risk assessments and assess the extent to which consumer characteristics may be associated with attitudes toward testing.

Methods: Adult participants aged 18-85 years of age purchased a personalized genomic risk test at a subsidized rate and were administered a web-based health assessment that included questions regarding perceptions and attitudes toward undergoing testing.

Results: Assessments were obtained for 3640 individual study participants, and 49.

A simple genetic architecture underlies morphological variation in dogs.

Domestic dogs exhibit tremendous phenotypic diversity, including a greater variation in body size than any other terrestrial mammal. Here, we generate a high density map of canine genetic variation by genotyping 915 dogs from 80 domestic dog breeds, 83 wild canids, and 10 outbred African shelter dogs across 60,968 single-nucleotide polymorphisms (SNPs). Coupling this genomic resource with external measurements from breed standards and individuals as well as skeletal measurements from museum specimens, we identify 51 regions of the dog genome associated with phenotypic variation among breeds in 57 traits.

Palladium-catalyzed C-F activation of polyfluoronitrobenzene derivatives in Suzuki-Miyaura coupling reactions.

Highly fluorinated nitrobenzene derivatives are suitable substrates for palladium-catalyzed C-F bond arylation using readily available palladium catalysts under both conventional heating and microwave conditions. Arylation occurs ortho to the nitro group offering a synthetic route to polyfluorinated 2-arylnitrobenzene systems. The regiochemistry of the arylation reactions suggests that there is a significant directing interaction between the nitro group and the incoming nucleophilic palladium catalyst which is facilitated by the presence of several fluorine atoms attached the ring.

Carriers of rare missense variants in IFIH1 are protected from psoriasis.

Testing of ∼25,000 putative functional single-nucleotide polymorphisms (SNPs) across the human genome in a genetic association study has identified three psoriasis genes, IL12B, IL23R, and IL13. We now report evidence for the association of psoriasis risk with missense SNPs in the interferon induced with helicase C domain 1 gene (IFIH1). The rare alleles of two independent SNPs were associated with decreased risk of psoriasis--rs35667974 (Ile923Val): odds ratio (OR) for minor allele carriers is 0.

Coat variation in the domestic dog is governed by variants in three genes.

Coat color and type are essential characteristics of domestic dog breeds. Although the genetic basis of coat color has been well characterized, relatively little is known about the genes influencing coat growth pattern, length, and curl. We performed genome-wide association studies of more than 1000 dogs from 80 domestic breeds to identify genes associated with canine fur phenotypes.