Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.

Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS, individuals with FXS receiving drug treatment of IAAS were older, more predominantly male, have more significant intellectual disability, more like to have comorbid autism, hyperarousal, and social impairments. The most commonly utilized medications for IAAS in FXS are antipsychotic medications, specifically aripiprazole and risperidone (37% and 27%, respectively).

Osteoma Cutis Associated with Nevus Sebaceus: Case Report and Review of Cutaneous Osteoma-associated Skin Tumors (COASTs).

Osteoma cutis is a benign cutaneous lesion characterized by the presence of bone within the dermis or subcutaneous fat. It most often develops in association with other skin lesions such as cutaneous tumors. Nevus sebaceus is a benign hamartoma of the skin that is composed of epidermal and dermal components.

Melanoma Following In Vitro Fertilization: Co-incident or Coincidence?

Melanoma may occur during or after natural or in vitro fertilization-associated pregnancy. A 43-year-old woman, who had received in vitro fertilization and developed a melanoma five months postpartum is described. Some studies have not shown in vitro fertilization to increase melanoma risk; however, several investigations have observed melanoma risk to be greater in women who have had this treatment.

Investigational drugs in early-stage clinical trials for autism spectrum disorder.

: Pharmacologic interventions in Autism Spectrum Disorder (ASD) have historically focused on symptom-based approaches. However, a treatment for the core social deficits has remained unidentified. While a definitive theory for the cause of ASD is not yet known, recent advances in our understanding of ASD pathophysiology have opened the door for research on new pharmaceutical methods to target core symptomology.

Atrophic Dermatofibroma: A Comprehensive Literature Review.

Introduction: An atrophic dermatofibroma is a benign fibrohistiocytic neoplasm. It typically presents as an asymptomatic patch with a depressed central area.

Methods: The PubMed database was used to search the following words: atrophic, dermatofibroma, elastic and fibers.

Persistence of right ventricular dysfunction and altered morphometry in asymptomatic preterm Infants through one year of age: Cardiac phenotype of prematurity.

Introduction: Prematurity impacts myocardial development and may determine long-term outcomes. The objective of this study was to test the hypothesis that preterm neonates develop right ventricle dysfunction and adaptive remodelling by 32 weeks post-menstrual age that persists through 1 year corrected age.

Materials And Methods: A subset of 80 preterm infants (born <29 weeks) was selected retrospectively from a prospectively enrolled cohort and measures of right ventricle systolic function and morphology by two-dimensional echocardiography were assessed at 32 weeks post-menstrual age and at 1 year of corrected age.

Impact of Obesity on Left Ventricular Thickness in Children with Hypertrophic Cardiomyopathy.

Obesity is associated with additional left ventricular hypertrophy (LVH) in adults with hypertrophic cardiomyopathy (HCM). It is not known whether obesity can lead to further LVH in children with HCM. Echocardiographic LV dimensions were determined in 504 children with HCM.

Osteoma Cutis: An Adverse Event Following Tattoo Placement.

Osteoma cutis can occur as a primary or secondary cutaneous lesion. Isolated lesions of perforating osteoma cutis are uncommon and can present with varying clinical features. Adverse events that can occur following placement of a tattoo include benign and malignant neoplasms, dermatoses, infections, and miscellaneous complications.

Preventive care services and health behaviors in children with fragile X syndrome.

Background: This is the first description of preventive care services specifically received by children and young adults with fragile X syndrome (FXS). We compare these rates to those of other pediatric populations and identify care disparities within our cohort.

Objective: Describe the frequency of preventive care services and health behaviors by young people with FXS, and identify disparities in care.

Risk factors for lethal arrhythmic events in children and adolescents with hypertrophic cardiomyopathy and an implantable defibrillator: An international multicenter study.

Background: Predictors of risk of lethal arrhythmic events (LAE) is poorly understood and may differ from adults in children with hypertrophic cardiomyopathy (HCM).

Objective: The purpose of this study was to determine predictors of LAE in children with HCM.

Methods: A retrospective data collection was performed on 446 children and teenagers 20 years and younger (290 [65%] male; mean age 10.

heterozygosity attenuates -related amyloid burden in preclinical AD.

Objective: To examine whether the gene variant KL-VS attenuates associated β-amyloid (Aβ) accumulation in a late-middle-aged cohort enriched with Alzheimer disease (AD) risk factors.

Methods: Three hundred nine late-middle-aged adults from the Wisconsin Registry for Alzheimer's Prevention and the Wisconsin Alzheimer's Disease Research Center were genotyped to determine KL-VS and status and underwent CSF sampling (n = 238) and/or C-Pittsburgh compound B (PiB)-PET imaging (n = 183). Covariate-adjusted regression analyses were used to investigate whether exerted expected effects on Aβ burden.

Occupational-like organophosphate exposure disrupts microglia and accelerates deficits in a rat model of Alzheimer's disease.

Occupational exposure to organophosphate pesticides, such as chlorpyrifos (CPF), increases the risk of Alzheimer's disease (AD), though the mechanism is unclear. To investigate this, we subjected 4-month-old male and female wild-type (WT) and TgF344-AD rats, a transgenic AD model, to an occupational CPF exposure paradigm that recapitulates biomarkers and behavioral impairments experienced by agricultural workers. Subsequent cognition and neuropathology were analyzed over the next 20 months.

A Pilot Quantitative Evaluation of Early Life Language Development in Fragile X Syndrome.

Language delay and communication deficits are a core characteristic of the fragile X syndrome (FXS) phenotype. To date, the literature examining early language development in FXS is limited potentially due to barriers in language assessment in very young children. The present study is one of the first to examine early language development through vocal production and the language learning environment in infants and toddlers with FXS utilizing an automated vocal analysis system.

Anion Exchange and the Quantum-Cutting Energy Threshold in Ytterbium-Doped CsPb(ClBr ) Perovskite Nanocrystals.

Colloidal halide perovskite nanocrystals of CsPbCl doped with Yb have demonstrated remarkably high sensitized photoluminescence quantum yields (PLQYs), approaching 200%, attributed to a picosecond quantum-cutting process in which one photon absorbed by the nanocrystal generates two photons emitted by the Yb dopants. This quantum-cutting process is thought to involve a charge-neutral defect cluster within the nanocrystal's internal volume. We demonstrate that Yb-doped CsPbCl nanocrystals can be converted postsynthetically to Yb-doped CsPb(ClBr ) nanocrystals without compromising the desired high PLQYs.

Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.

To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions.

Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study.

Background: Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically developing controls (TDC) and individuals with idiopathic autism spectrum disorder (ASD) across two social eye tracking paradigms.

Methods: Individuals with FXS and age- and gender-matched TDC and individuals with idiopathic ASD completed emotional face and social preference eye tracking tasks to evaluate gaze aversion and social interest, respectively.

Executive Function in Fragile X Syndrome: A Systematic Review.

Executive function (EF) supports goal-directed behavior and includes key aspects such as working memory, inhibitory control, cognitive flexibility, attention, processing speed, and planning. Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and is phenotypically characterized by EF deficits beyond what is expected given general cognitive impairments. Yet, a systematic review of behavioral studies using performance-based measures is needed to provide a summary of EF deficits across domains in males and females with FXS, discuss clinical and biological correlates of these EF deficits, identify critical limitations in available research, and offer suggestions for future studies in this area.

Maturational patterns in right ventricular strain mechanics from the fetus to the young infant.

Aim: To test the hypothesis that right ventricular (RV) function has age-specific patterns of development, we tracked the evolution of RV strain mechanics by 2D-speckle tracking echocardiography (2DSTE) in healthy subjects from mid-gestation through one year of age.

Methods: We conducted a prospective longitudinal echocardiography study in 50 healthy subjects at five time periods across gestation (16-20 weeks, 21-25 weeks, 26-30 weeks, 31-35 weeks, and 36-40 weeks) and four time periods following delivery (1 week, 1 month, 6 months, and 1 year of age). We characterized RV function by measuring RV global and free wall longitudinal strain and systolic strain rate, and segmental longitudinal strain at the apical-, mid-, and basal- ventricular levels of the free wall.

Best Practices in Fragile X Syndrome Treatment Development.

Preclinical studies using animal models of fragile X syndrome have yielded several agents that rescue a wide variety of phenotypes. However, translation of these treatments to humans with the disorder has not yet been successful, shedding light on a variety of limitations with both animal models and human trial design. As members of the Clinical Trials Committee of the National Fragile X Foundation, we have discussed a variety of recommendations at the level of preclinical development, transition from preclinical to human projects, family involvement, and multi-site trial planning.

Author Correction: Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible.

The original and corrected Acknowledgements are shown in the accompanying Author Correction.

A novel role for programmed cell death receptor ligand 2 in sepsis-induced hepatic dysfunction.

The liver is an organ that, when dysfunctional in a septic patient, is strongly associated with morbidity and mortality. Understanding the pathophysiology of liver failure during sepsis may lead to improved diagnostics and potential therapeutic targets. Historically, programmed cell death receptor (PD) ligand 1 (PD-L1) has been considered the primary ligand for its checkpoint molecule counterpart, PD-1, with PD-L2 rarely in the immunopathological spotlight.

Evidenced-Based Interventions for Children With Autism Spectrum Disorder.

Unlabelled: This paper reviews evidenced-based interventions for children with autism spectrum disorders (ASD) across the disciplines of psychology, speech-language pathology, occupational therapy, and developmental pediatrics.

Background: rates of ASD diagnoses have been steadily rising over the past 2 decades. There are a wide range of therapies and interventions, of varying levels of evidence, across disciplines that are now available to treat children with ASD.

Pharmacological management of behavioral disturbances in children and adolescents with autism spectrum disorders.

Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric condition that, based on recent CDC estimates affects an estimated 1 in 59 American children. Behavioral treatments remain the mainstay of treatment for the core symptoms of ASD including communication deficits, social interaction deficits and repetitive behavior. However, youth with ASD may also have severe behavioral challenges including irritability, aggression, and hyperactivity.