A Pediatric Patient with Severe Obstructive Sleep Apnea and Comorbid Depression and Substance Abuse.

Obstructive sleep apnea (OSA), depression, and substance abuse problems share similar symptomatology and have significant interplay. An underlying diagnosis of OSA can often be overlooked in patients with significant psychiatric illness and polysubstance use. Pediatric OSA is often associated with adenotonsillar hypertrophy and frequently requires surgical intervention for resolution of symptoms.

Covid19 impact screening of patients undergoing medication treatment for opioid use disorder.

Populations with addiction are considered at-risk for both medical and financial effects of the COVID19 outbreak. Patients receiving medication treatment for opioid use disorder (MOUD) were screened to assess need, vulnerability factors and potential clinical impact of the pandemic for referral and allocation of resources. : A 31-item quality improvement survey of COVID19-related factors (e.

Relationship Between Body Habitus and Aggression Subtypes Among Healthy Young Adults from the American Midwest.

This study examined associations between body habitus and functions of aggression, in a sample of 474 college students from the Midwestern region of the United States (age range = 18-25y; 73% Caucasian). Two instruments of aggression, the Reactive-Proactive Aggression Questionnaire from Dodge & Coie 1987 (DC) and Raine et al. 2006 (RPQ) were given as self-assessments.

Impostorism in American medical students during early clinical training: gender differences and intercorrelating factors.

Objectives: This study examined the incidence and severity of impostorism in third-year medical students as they transitioned from the preclinical to clinical phases of training.

Methods: A cross-sectional study was conducted in third-year medical students (N=215).  Respondents completed a voluntary, anonymous, 60-item survey that included the Clance Impostor Phenomenon Scale and the Perceived Stress Scale.

Impostorism in third-year medical students: an item analysis using the Clance impostor phenomenon scale.

Introduction: Impostorism, feelings of distrust in one's abilities and accomplishments despite evidence to the contrary, is frequent in medical students and negatively affects student wellness.

Methods: The aspects of impostorism that were most prevalent in medical students during the transition from the preclinical to clinical phases of their training were assessed using an anonymous, voluntary 60-item survey that included the Clance Impostor Phenomenon Scale (CIPS) and a 2-item burnout assessment administered in October-November 2018. Ratings of individual CIPS items were compared between items for the entire sample and in subpopulations of students.

Kratom (Mitragyna speciosa): Friend or Foe?

Increased use of the opioid-related plant kratom as an alternative treatment for opioid withdrawal symptoms has raised concerns regarding its potential for abuse and severe adverse effects. A review of the literature was performed to characterize kratom's pharmacology, clinical efficacy, and adverse effects to increase understanding and evaluate potential use as an alternative treatment for opioid dependence. Kratom use initiated as self-medication for an opioid use disorder or pain syndrome in the absence of effective alternatives is associated with a risk of kratom dependence, withdrawal, and life-threatening toxicity.

Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader-Willi Syndrome.

Prader-Willi syndrome (PWS) is an imprinting disorder caused by lack of expression of the paternally inherited 15q11.2-q13 chromosome region. The risk of death from obesity-related complications can worsen with age, but survival trends are improving.

Venous Thromboembolism in Prader-Willi Syndrome: A Questionnaire Survey.

Prader-Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader-Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury and death in PWS. A 66-item questionnaire was developed by a panel of PWS medical and scientific experts, with input from Prader-Willi Syndrome Association (USA) leadership, so as to probe their membership on the frequency, risk, and protective factors for venous thromboembolism, pulmonary embolism, and related findings.

Time to remission analysis for major depressive disorder after repetitive transcranial magnetic stimulation (rTMS).

We previously examined the efficacy of rTMS for major depressive disorder in an applied clinical practice. Clinical response was related to severity of depression as well as the rTMS instrument utilized suggesting a relationship to instrument or magnetic field parameters and individual factors. The effectiveness of repetitive transcranial magnetic stimulation (rTMS) in the treatment of major depressive disorder was further evaluated using Log-Rank statistics for time to remission outcomes.

Relationship between body mass and clinical response to repetitive transcranial magnetic stimulation (rTMS) for major depressive disorder.

Repetitive transcranial magnetic stimulation (rTMS) has been proven to be efficacious in the treatment of Major Depressive Disorder (MDD). We previously examined the effectiveness of rTMS for MDD in an applied clinical setting, AwakeningsKC Clinical Neuroscience Institute (CNI) and found high remission rates for patients diagnosed with MDD following rTMS treatment. An unexpected relationship with body composition and rTMS unit was discovered.

Repetitive transcranial magnetic stimulation (rTMS) using different TMS instruments for major depressive disorder at a suburban tertiary clinic.

Repetitive transcranial magnetic stimulation (rTMS) is a neurostimulatory technique used to modulate orbital frontal corticostriatal (OFC) activity and clinical symptomatology for psychiatric disorders involving OFC dysfunction. We examined the effectiveness of rTMS in the treatment of major depressive disorder in an applied clinical setting (Awakening KC CNI) to assess efficacy and optimize rTMS parameters within clinical practice. A retrospective review of medical records was carried out on patients with major depressive disorder undergoing rTMS therapy at Awakenings KC Clinical Neuroscience Institute (CNI), a suburban tertiary psychiatric clinic.

GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes.

Recent research revealed that autism spectrum disorders (ASD) and cancer may share common genetic architecture, with evidence first reported with the gene. There are approximately 800 autism genes and 3500 genes associated with cancer. The VarElect phenotype program was chosen to identify genes jointly associated with both conditions based on genomic information stored in GeneCards.

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.

Background: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects.

A descriptive study on selected growth parameters and growth hormone receptor gene in healthy young adults from the American Midwest.

Context: The first study of growth hormone receptor (GHR) genotypes in healthy young adults in the United States attending a Midwestern university and impact on selected growth parameters.

Objective: To describe the frequency of GHR genotypes in a sample of healthy young adults from the United States attending a university in the Midwest and analyze the relationship between GHR genotypes and selected growth parameters.

Design: Saliva was collected from 459 healthy young adults (237 females, 222 males; age range = 18-25 y) and DNA isolated for genotyping of GHR alleles (fl/fl, fl/d3, or d3/d3).

Growth hormone receptor (GHR) gene polymorphism and scoliosis in Prader-Willi syndrome.

Objective: A growth hormone receptor (GHR) gene polymorphism impacts sensitivity to endogenous and exogenous growth hormone (GH) to moderate growth and development. Increased sensitivity may accelerate spinal growth and contribute to scoliosis, particularly in GH-deficient and treated populations such as Prader-Willi syndrome (PWS). Therefore, we examined the relationship between GHR genotype and scoliosis (case and control) in PWS cohorts.

Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases.

Schizophrenia (SCZ) is a chronic debilitating neuropsychiatric disorder with multiple risk factors involving numerous complex genetic influences. We examined and updated a master list of clinically relevant and susceptibility genes associated with SCZ reported in the literature and genomic databases dedicated to gene discovery for characterization of SCZ genes. We used the commercially available GeneAnalytics computer-based gene analysis program and integrated genomic databases to create a molecular profile of the updated list of 608 SCZ genes to model their impact in select categories (tissues and cells, diseases, pathways, biological processes, molecular functions, phenotypes and compounds) using specialized GeneAnalytics algorithms.

Survival trends from the Prader-Willi Syndrome Association (USA) 40-year mortality survey.

PurposePrader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia and morbid obesity with increased cardiopulmonary and hyperphagia-related mortality. Survival trends in PWS were evaluated to assess the impact of modern interventions on mortality risk.MethodsThe Prader-Willi Syndrome Association (USA) 40-year mortality syndrome-specific database of 486 death reports was utilized to examine survival trends in PWS and cohort effects for recent deaths (years 2000-2015, N=331) relative to deaths prior to 2000 (N=94).

Exploring genetic susceptibility to obesity through genome functional pathway analysis.

Objective: Obesity has been reaching epidemic levels in recent decades, with a growing body of research identifying predisposing genetic components. To explore the relationship of genetic factors contributing to obesity, an analytical computer-based gene-profiling approach utilizing an updated list of clinically relevant and known obesity-related genes was undertaken.

Methods: An updated list of 494 genes reportedly associated with obesity was compiled, and the GeneAnalytics profiling software was utilized to interrogate genomic databases from GeneCards® to cross-reference obesity gene sets against tissues and cells, diseases, genetic pathways, gene ontology (GO)-biological processes and GO-molecular functions, phenotypes, and compounds.

GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia.

Bipolar disorder (BPD) and schizophrenia (SCH) show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD) with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes), BPD (290 genes) and SCH (560 genes). Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e.

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region.

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

Background: Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS.

Methods: The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999.

Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls.

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder associated with maladaptive social behavior, hyperphagia, and morbid obesity. Orexin A is a hypothalamic neuropeptide important as a homeostatic regulator of feeding behavior and in energy metabolism through actions in the lateral hypothalamus. Dysregulation of orexin signaling may contribute to behavioral problems and hyperphagia seen in PWS and we sought to assess orexin A levels in PWS relative to controls children.

Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes.

Mammalian chromosomes are comprised of complex chromatin architecture with the specific assembly and configuration of each chromosome influencing gene expression and function in yet undefined ways by varying degrees of heterochromatinization that result in Giemsa (G) negative euchromatic (light) bands and G-positive heterochromatic (dark) bands. We carried out morphometric measurements of high-resolution chromosome ideograms for the first time to characterize the total euchromatic and heterochromatic chromosome band length, distribution and localization of 20,145 known protein-coding genes, 790 recognized autism spectrum disorder (ASD) genes and 365 obesity genes. The individual lengths of G-negative euchromatin and G-positive heterochromatin chromosome bands were measured in millimeters and recorded from scaled and stacked digital images of 850-band high-resolution ideograms supplied by the International Society of Chromosome Nomenclature (ISCN) 2013.