Exploring Breast Cancer Systemic Drug Therapy Patterns in Real-World Data.

Purpose: To explore medications and their administration patterns in real-world patients with breast cancer.

Methods: A retrospective study was performed using TriNetX, a federated network of deidentified, Health Insurance Portability and Accountability Act-compliant data from 21 health care organizations across North America. Patients diagnosed with breast cancer between January 1, 2013, and May 31, 2022, were included.

Agitation in Patients With Autism Spectrum Disorder Admitted to Inpatient Pediatric Medical Units.

Objectives: Our goals for this study were to characterize the frequency of agitation in patients with autism spectrum disorder (ASD) admitted to an inpatient pediatric medical unit and to identify risk factors associated with agitation.

Methods: Through a retrospective chart review, we identified every patient between 8 and 19 years of age with a documented ASD diagnosis admitted to a pediatric medical unit over a 5-year period. We performed a detailed review of each admission, with a focus on factors hypothesized to be correlated with risk of agitation.

Accuracy of self-reported history of autoimmune disease: A pilot study.

Research associating the increased prevalence of familial autoimmunity with neuropsychiatric disorders is reliant upon the ascertainment of history of autoimmune diseases from relatives. To characterize the accuracy of self-report, we compared self-reported diagnoses of 18 autoimmune diseases using an online self-report questionnaire to the electronic medical record (EMR) diagnoses in 1,013 adult (age 18-70 years) patients of a primary care clinic. For the 11 diseases meeting our threshold observed prevalence, we estimated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for self-reported diagnoses under the assumption that EMR-based diagnoses were accurate.

Calcium and Vitamin D Supplement Prescribing Practices among Providers Caring for Children with Autism Spectrum Disorders: Are We Addressing Bone Health?

Children with autism spectrum disorders (ASD) have several risk factors for low bone mineral density. The gluten-free, casein-free (GFCF) diet is a complementary therapy sometimes used in ASD that raises concerns for the adequacy of calcium and vitamin D intake. This study evaluated the prescribing practices of calcium and vitamin D supplements and the practice of checking 25-hydroxy vitamin D (25(OH)D) levels by providers in 100 children with ASD, 50 of whom were on the GFCF diet.

Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities.

This study investigated the differences in clinical symptoms between females and males with autism spectrum disorder (ASD) across three verbal ability groups (nonverbal, phrase and fluent speech), based on which Autism Diagnostic Observation Schedule module was administered to 5723 individuals in four research datasets. In the Simons Simplex Collection and Autism Treatment Network, females with ASD and phrase or fluent speech had lower cognitive, adaptive, and social abilities than males. In the Autism Genetics Resource Exchange and the Autism Consortium, females with phrase or fluent speech had similar or better adaptive and social abilities than males.

Toward an immune-mediated subtype of autism spectrum disorder.

A role for immunological involvement in autism spectrum disorder (ASD) has long been hypothesized. This review includes four sections describing (1) evidence for a relationship between familial autoimmune disorders and ASD; (2) results from post-mortem and neuroimaging studies that investigated aspects of neuroinflammation in ASD; (3) findings from animal model work in ASD involving inflammatory processes; and (4) outcomes from trials of anti-inflammatory/immune-modulating drugs in ASD that have appeared in the literature. Following each section, ideas are provided for future research, suggesting paths forward in the continuing effort to define the role of immune factors and inflammation in the pathophysiology of a subtype of ASD.

Brief report: bone fractures in children and adults with autism spectrum disorders.

Peripubertal boys with autism spectrum disorder (ASD) have lower bone mineral density (BMD) than typically developing controls. However, it is not clear whether lower BMD in ASD results in an increased fracture rate. This study examined the rate of fractures in children and adults with and without ASD using a national database of emergency room visits (Nationwide Emergency Department Sample).

Sensory symptoms in autism spectrum disorders.

The aim of this review is to summarize the recent literature regarding abnormalities in sensory functioning in individuals with autism spectrum disorder (ASD), including evidence regarding the neurobiological basis of these symptoms, their clinical correlates, and their treatment. Abnormalities in responses to sensory stimuli are highly prevalent in individuals with ASD. The underlying neurobiology of these symptoms is unclear, but several theories have been proposed linking possible etiologies of sensory dysfunction with known abnormalities in brain structure and function that are associated with ASD.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Background: The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive.

Methods: We performed whole-exome sequencing in a patient with ataxia and hypogonadotropic hypogonadism, followed by targeted sequencing of candidate genes in similarly affected patients. Neurologic and reproductive endocrine phenotypes were characterized in detail.

Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies.

Genome-wide association studies (GWAS) and other emerging technologies offer great promise for the identification of genetic risk factors for complex psychiatric disorders, yet such studies are constrained by the need for large sample sizes. Web-based collection offers a relatively untapped resource for increasing participant recruitment. Therefore, we developed and implemented a novel web-based screening and phenotyping protocol for genetic studies of Tourette syndrome (TS), a childhood-onset neuropsychiatric disorder characterized by motor and vocal tics.

Linking electronic health record-extracted psychosocial data in real-time to risk of readmission for heart failure.

Background: Knowledge of psychosocial characteristics that helps to identify patients at increased risk for readmission for heart failure (HF) may facilitate timely and targeted care.

Objective: We hypothesized that certain psychosocial characteristics extracted from the electronic health record (EHR) would be associated with an increased risk for hospital readmission within the next 30 days.

Methods: We identified 15 psychosocial predictors of readmission.

The familial association of tourette's disorder and ADHD: the impact of OCD symptoms.

Tourette's disorder (TD) frequently co-occurs with attention-deficit/hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). While the relationship between TD and OCD suggests that they share etiological factors, the exact relationship between TD and ADHD is less clear. The goal of the current analyses was to understand better the familial relationship between DSM-IV ADHD and TD.

The genetics of Tourette syndrome: a review.

Objectives: This article summarizes and evaluates recent advances in the genetics of Gilles de la Tourette syndrome (GTS).

Methods: This is a review of recent literature focusing on (1) the genetic etiology of GTS; (2) common genetic components of GTS, attention deficit hyperactivity disorder (ADHD), and obsessive compulsive disorder (OCD); (3) recent linkage studies of GTS; (4) chromosomal translocations in GTS; and (5) candidate gene studies.

Results: Family, twin, and segregation studies provide strong evidence for the genetic nature of GTS.

Association of reading disability on chromosome 6p22 in the Afrikaner population.

The genetic basis of reading disability (RD) has long been established through family and twin studies. More recently genetic linkage studies have identified genomic regions that appear to harbor susceptibility genes for RD. Association studies have been shown to have greater power for detecting genes of modest effect, particularly in genetically isolated populations.