Medicine and Health Sciences Commons^™

Extradural Primary Malignant Spinal Tumors In A Population Younger Than 25 Years: An Ambispective International Multicenter Study On Onco-Surgical Outcomes, Alexander C Disch, Stefano Boriani, Alessandro Luzzati, Laurence D Rhines, Charles G Fisher, Aron Lazary, Ziya L Gokaslan, Dean Chou, Michelle J Clarke, Michael G Fehlings, Klaus-Dieter Schaser, Nicole M Germscheid, Jeremy J Reynolds, The Ao Spine Knowledge Forum Tumor

Faculty, Staff and Student Publications

Extradural malignant primary spinal tumors are rare and outcome data, especially for younger patients, is limited. In a worldwide (11 centers) study (Predictors of Mortality and Morbidity in the Surgical Management of Primary Tumors of the Spine study; ClinicalTrials.gov Identifier NCT01643174) by the AO Spine Knowledge Forum Tumor, patients surgically treated for primary tumors of the spine between 1992 and 2012, were retrospectively analyzed from a prospective database of their medical history. Medical history, tumor characteristics, diagnostics, treatments, cross-sectional survival, and local recurrences were analyzed. Sixty-eight cases (32 f; 36 m), at an average age of 18.6 ± 4.7 years …

A Survey With Interventional Components Delivered On Tablet Devices Versus Usual Care To Increase Pre-Exposure Prophylaxis Uptake Among Cisgender Black Women: A Pilot Randomized Controlled Trial, Mandy J Hill, Angela M Heads, Robert Suchting, Angela L Stotts

Faculty, Staff and Student Publications

BACKGROUND: Cisgender (cis) Black women in the USA are more likely to become HIV positive during their lifetime than other women. We developed and implemented a behavioral intervention, Increasing PrEP (iPrEP), the first pilot randomized controlled trial (RCT) aimed at motivating cis Black women to be willing to use PrEP for HIV prevention and attend an initial PrEP clinic visit following an emergency department visit.

METHODS: Eligible participants were Black cisgender women ages 18-55 years who acknowledged recent condomless sex and substance use. Participants were randomized to iPrEP or usual care (UC). iPrEP is a survey-based intervention designed to raise …

Identification Of Cancer Related Risk And Protective Factors For American Indian Youth: A Mixed Studies Review, Melanie Nadeau, Kathryn Wise, Vianca Farfan Cuela, Devon Olson, Karan Saravana

Indigenous Health Faculty Publications

Introduction: Many causes of cancer related morbidity and mortality can be traced back to childhood behaviors. The culmination of cancer related risk and protective factors impacting the health and wellbeing of American Indian youth is unknown. The aim of this Mixed Studies Review was to identify cancer related risk and protective factors among American Indian youth. Results will be shared with Tribal communities to inform surveillance efforts.

Methods: A Mixed Studies Review process was deemed most appropriate for the search process and data collection. 7 databases were included in the search along with 3 databases that were hand searched. Google …

Students Stress Patterns In A Kenyan Socio-Cultural And Economic Context: Toward A Public Health Intervention, Victoria N Mutiso, David M Ndetei, Esther N Muia, Christine Musyimi, Monicah Masake, Tom L Osborn, Andre Sourander, John R Weisz, Daniel Mamah

2020-Current year OA Pubs

This study aimed at determining the prevalence of stress, different types of stress, their severity and their determinants in Kenyan university, college and high school students. The following tools were administered to 9741 students: (1) Researcher-designed socio-demographic tool, (2) Psychiatric Diagnostic Screening Questionnaire (PDSQ) for psychiatric disorders, (3) WERC Stress Screen for stress, (4) Washington Early Recognition Center Affectivity and Psychosis (WERCAP) screen for psychosis and affectivity, (5) Wealth Index Questionnaire for economic indicators. Descriptive analysis for the prevalence of different types of stress and inferential analysis for stress and independent variables were done. Significant variables (p < 0.05) were fitted into generalized linear model to determine independent predictors. The mean age of the respondents was 21.4 years (range 16-43). Money issues were the commonest stressors while alcohol and drug use were the least. The independent predictors of stress were females, college students and use of gas stove. In conclusion, up to 30% of the students suffer from mild to severe stress. The students experience a wide range of stressors. The most important stressors include money and finances, family related problems and concerns about their future. Our findings suggest a public health approach to create stress awareness in students.

Childhood Adversities And Risk Of Posttraumatic Stress Disorder And Major Depression Following A Motor Vehicle Collision In Adulthood, H N Ziobrowski, S L House, D M Barch, Et Al.

2020-Current year OA Pubs

AIMS: Childhood adversities (CAs) predict heightened risks of posttraumatic stress disorder (PTSD) and major depressive episode (MDE) among people exposed to adult traumatic events. Identifying which CAs put individuals at greatest risk for these adverse posttraumatic neuropsychiatric sequelae (APNS) is important for targeting prevention interventions.

METHODS: Data came from

RESULTS: Most participants (90.9%) reported at least rarely having experienced some CA. Ever experiencing each CA other than emotional neglect was univariably associated with 3-month APNS (RRs = 1.31-1.60). Each CA frequency was also univariably associated with 3-month APNS (RRs = 1.65-2.45). In multivariable models, joint associations of CAs with 3-month …

Ageanno: A Knowledgebase Of Single-Cell Annotation Of Aging In Human, Kexin Huang, Hoaran Gong, Jingjing Guan, Lingxiao Zhang, Changbao Hu, Weiling Zhao, Liyu Huang, Wei Zhang, Pora Kim, Xiaobo Zhou

Faculty, Staff and Student Publications

Aging is a complex process that accompanied by molecular and cellular alterations. The identification of tissue-/cell type-specific biomarkers of aging and elucidation of the detailed biological mechanisms of aging-related genes at the single-cell level can help to understand the heterogeneous aging process and design targeted anti-aging therapeutics. Here, we built AgeAnno (https://relab.xidian.edu.cn/AgeAnno/#/), a knowledgebase of single cell annotation of aging in human, aiming to provide comprehensive characterizations for aging-related genes across diverse tissue-cell types in human by using single-cell RNA and ATAC sequencing data (scRNA and scATAC). The current version of AgeAnno houses 1 678 610 cells from 28 healthy …

Optimal Timing Of Antiretroviral Therapy Initiation In Children And Adolescents With Human Immunodeficiency Virus-Associated Pulmonary Tuberculosis, Alexander Kay, Jose Mendez-Reyes, Tara Devezin, Meenakshi Bakaya, Teresa Steffy, Sandile Dlamini, Amos Msekandiana, Tara Ness, Jason Bacha, Pauline Amuge, Mogomotsi Matshaba, Moses Chodota, Phoebe Nyasulu, Lineo Thahane, Lumumbwa Mwita, Adeodata Kekitiinwa, Andrew Dinardo, Bhekumusa Lukhele, H Lester Kirchner, Anna Mandalakas

Faculty, Staff and Students Publications

BACKGROUND: There is insufficient evidence in children and adolescents with human immunodeficiency virus (CAHIV) to guide the timing of antiretroviral treatment (ART) initiation after starting treatment for pulmonary tuberculosis (pTB). To address this knowledge gap, we evaluated the risk of mortality associated with timing of ART initiation in ART-naive CAHIV treated for pTB.

METHODS: Data were extracted from electronic medical records of ART-naive patients, aged 0-19 years, who were treated for HIV-associated pTB at Baylor Centers of Excellence in Botswana, Eswatini, Malawi, Lesotho, Tanzania, or Uganda between 2013 and 2020. Data were analyzed against a primary outcome of all-cause mortality …

Multimodal Brain Age Estimates Relate To Alzheimer Disease Biomarkers And Cognition In Early Stages: A Cross-Sectional Observational Study, Peter R Millar, Brian A Gordon, Patrick H Luckett, Tammie L S Benzinger, Carlos Cruchaga, Anne M Fagan, Jason J Hassenstab, Richard J Perrin, Suzanne E Schindler, Randall J Bateman, John C Morris, Beau M Ances, Et Al.

2020-Current year OA Pubs

BACKGROUND: Estimates of 'brain-predicted age' quantify apparent brain age compared to normative trajectories of neuroimaging features. The brain age gap (BAG) between predicted and chronological age is elevated in symptomatic Alzheimer disease (AD) but has not been well explored in presymptomatic AD. Prior studies have typically modeled BAG with structural MRI, but more recently other modalities, including functional connectivity (FC) and multimodal MRI, have been explored.

METHODS: We trained three models to predict age from FC, structural (S), or multimodal MRI (S+FC) in 390 amyloid-negative cognitively normal (CN/A-) participants (18-89 years old). In independent samples of 144 CN/A-, 154 CN/A+, …

The Vaping Epidemic Among The Adolescent Population, Miranda O'Dell

Graduate Research Projects

No abstract provided.

Sickle Cell Disease And Adolescents’ Perspectives On Self-Care Management Resources, Dora L. Clayton-Jones, Jill B. Hamilton, Kristin Haglund, Lee Za Ong, Kalen C. Kennedy, Sylvia Peña, Coretta Jenerette

College of Education Faculty Research and Publications

Background

Adolescents with sickle cell disease (SCD) face unique challenges, especially during the critical health care transition from pediatric to adult care. The purpose of this study was to gather the perspectives of adolescents living with SCD and to describe their self-care management experiences prior to their move into the adult health care system.

Methods

Guided by the Theory of Self-Care Management for Sickle Cell Disease, this qualitative descriptive study used semi-structured interviews with 11 adolescents with SCD (M = 16.63 years, SD = 1.15). In addition to a demographic survey, adolescents answered interview questions about their perceptions of their …

Factors Associated With Prevalent Mycobacterium Tuberculosis Infection And Disease Among Adolescents And Adults Exposed To Rifampin-Resistant Tuberculosis In The Household, Soyeon Kim, Anneke C. Hesseling, Xingye Wu, Michael D. Hughes, N. Sarita Shah, Sanjay Gaikwad, Nishi Kumarasamy, Erika Mitchell, Mey Leon, Pedro Gonzales, Sharlaa Badal-Faesen, Madeleine Lourens, Sandy Nerette, Justin Shenje, Petra De Koker, Supalert Nedsuwan, Lerato Mohapi, Unoda A. Chakalisa, Rosie Mngqbisa, Rodrigo Otávio Da Silva Escada, Samuel Ouma, Barbara Heckman, Linda Naini, Amita Gupta, Susan Swindells, Gavin Churchyard, Actg A5300/Impaact 2003 Phoenix Feasibility Study Team

Journal Articles: Infectious Diseases

BACKGROUND: Understanding factors associated with prevalent Mycobacterium tuberculosis infection and prevalent TB disease in household contacts of patients with drug-resistant tuberculosis (TB) may be useful for TB program staff conducting contact investigations.

METHODS: Using data from a cross-sectional study that enrolled index participants with rifampin-resistant pulmonary TB and their household contacts (HHCs), we evaluated HHCs age ≥15 years for factors associated with two outcomes: Mycobacterium tuberculosis infection and TB disease. Among HHCs who were not already diagnosed with current active TB disease by the TB program, Mycobacterium tuberculosis infection was determined by interferon-gamma release assay (IGRA). TB disease was adjudicated …

Barriers And Challenges For Visually Impaired Students In Pe - An Interview Study With Students In Austria, Germany, And The Usa, Sebastian Ruin, Justin A. Haegele, Martin Giese, Jana Baumgärtner

Human Movement Studies & Special Education Faculty Publications

Physical education (PE) is an important part of school education worldwide, and at the same time, almost the only subject that explicitly deals with body and movement. PE is therefore of elementary importance in the upbringing of young people. This also applies to children with visual impairments. However, existing findings on participation and belonging in PE as well as on physical and motor development reveal that this group of children and adolescents is noticeably disadvantaged in this respect. Against this background, this paper aims to explore fundamental barriers and challenges across different types of schools, types of schooling, and countries …

Mental Health Outpatient Services And Hospital Readmissions Among Adolescent Patients In Louisiana, Whitney Walker

Walden Dissertations and Doctoral Studies

Hospital admissions and readmissions among Medicaid patients significantly impact increased healthcare costs for the state of Louisiana and are associated with poor quality of care. The specific research problem under study was the relationships, if any, between mental health outpatient services in Louisiana, either individual therapy or home and community-based services post-hospital discharge, gender of the patient, and age of the adolescent patient with the number of hospital readmissions over 1 year. Secondary quantitative data analysis was performed using the Island Peer Review Organization Annual External Quality Review Technical Report and data from the managed care organization in Louisiana. No …

Adolescent Overweight And Obesity In Ireland—Trends And Sociodemographic Associations Between 1990 And 2020, Aoibhín Moore Heslin, Aisling O'Donnell, Laura Kehoe, Janette Walton, Albert Flynn, John Kearney, Breige Mcnulty

Articles

Background: Overweight and obesity in adolescence is a growing issue and can have a range of both short- and long-term consequences on health.

Objectives: To analyse trends in adolescent weight status in Ireland across a 30-year period and to examine the influence of sociodemographic factors on overweight/obesity in Irish adolescents over time.

Methods: Body composition and body mass index weight status of Irish adolescents were compared using data from three nationally representative, cross-sectional Irish national food consumption surveys from 1990, 2006 and 2020. Adjusted analysis of associations between socio-demographic factors with the risk of adolescent overweight/obesity at each time point …

Determining The Food Choice Motivations Of Irish Teens And Their Association With Dietary Intakes, Using The Food Choice Questionnaire, Aisling Daly, Elizabeth O'Sullivan, Janette Walton, Laura Kehoe, Breige A. Mcnulty, Albert Flynn, John M. Kearney

Articles

During adolescence, teens start making their own food choices. While health and nutrition are important, practical and social concerns are also influential. This study aims to determine factors that motivate the food choices of Irish teens (using Food Choice Questionnaire), using data from the National Teens' Food Survey II (N = 428, 50% male, 13-18 years), and to identify how these motivations relate to dietary intakes (4-day semi-weighed food diaries). Data analysis used PCA to determine the food choice motivation subscales, and correlation and comparative statistical tests (t-test, ANOVA). Eight motivating factors were identified for Irish teens: Sensory Appeal, Price …

Nasal Accumulation And Metabolism Of Δ9-Tetrahydrocannabinol Following Aerosol (‘Vaping’) Administration In An Adolescent Rat Model, Alexa Torrens, Christina M Ruiz, Maricela X Martinez, Alex Mabou Tagne, Pritam Roy, Dakota Grimes, Faizy Ahmed, Valeria Lallai, Victoria Inshishian, Malia Bautista, Yen-Chu Chen, Marilyn A. Huestis, Aditi Das, Christie D Fowler, Stephen V Mahler, Daniele Piomelli

Institute of Emerging Health Professions Faculty Papers

Passive aerosol exposure to Δ9-tetrahydrocannabinol (THC) in laboratory animals results in faster onset of action and less extensive liver metabolism compared to most other administration routes and might thus provide an ecologically relevant model of human cannabis inhalation. Previous studies have, however, overlooked the possibility that rodents, as obligate nose breathers, may accumulate aerosolized THC in the nasal cavity, from where the drug might directly diffuse to the brain. To test this, we administered THC (ten 5-s puffs of 100 mg/mL of THC) to adolescent (31-day-old) Sprague-Dawley rats of both sexes. We used liquid chromatography/tandem mass spectrometry to quantify the …

Associations Between Substance Use And Obesity Among Native American Adolescents, Joseph Jude Janosky

Walden Dissertations and Doctoral Studies

Obesity and substance use are two significant public health issues among Native American adolescents. Despite much evidence linking obesity and substance use during adolescence to several long-term health conditions and increased morbidity and mortality, evidence describing the relationship between current substance use and obesity among Native American adolescents is lacking. The purpose of this quantitative study was to investigate associations between current substance use – specifically alcohol, marijuana, and tobacco products – and obesity among Native American high school students, when adjusted for sex, soda consumption, and physical activity. Rosenstock’s health belief model served as the theoretical foundation for this …

Relationship Between Screentime And Depressive Symptoms And Associated Mediators For African American Adolescents In The United States, Brittney Jones

Walden Dissertations and Doctoral Studies

The prevalence of adolescent depression in the United States is increasing as adolescents’ use of electronic screen devices increases. Some studies have found associations between screentime and adolescent depression, and other researchers have posited that screentime is not intrinsically harmful. High screentime in African American adolescents may place them at risk for worse depressive symptom outcomes, but the relationship between screentime and depressive symptoms for this population is unknown. The three research questions of this study addressed whether there is a relationship between screentime and depressive symptoms in African American adolescents, and whether sleep duration and the frequency of physical …

Incidence Of Injury And Illness Among Paediatric Team Usa Athletes Competing In The 2020 Tokyo And 2022 Beijing Olympic And Paralympic Games, Eric G Post, Travis Anderson, Jeffrey S Shilt, Eric L Dugan, Stephanie C Clark, Emily G Larson, Kayle E Noble-Taylor, David M Robinson, Amber T Donaldson, Jonathan T Finnoff, William M Adams

Faculty, Staff and Students Publications

OBJECTIVE: To describe the incidence of injuries and illnesses among paediatric Team USA athletes competing in the Tokyo 2020 Olympic and Paralympic Games, and the 2022 Beijing Olympic and Paralympic Games.

METHODS: An electronic medical record system documented all injuries and illnesses that occurred while competing in the four Games periods. Incidence (IR) with 95% CI per 1000 athlete days were calculated for both injuries and illnesses. Incidence rate ratios (IRR) were calculated to compare injury and illness rates based on age (paediatric vs non-paediatric) sex, Games period and sport type.

RESULTS: Two hundred paediatric athletes (age range, 15-21 years) …

Nursing Interventions To Decrease Depressive And Anxious Symptoms In Hispanic-American Youth, Vanessa C. Hernandez

Honors Undergraduate Theses

Introduction: Hispanic-American youth are less likely to receive mental health services despite being at increased risk for depression and anxiety. Having depression and anxiety at a young age can have detrimental long-term effects such as sexual risk behavior, delinquency, and suicide. Various kinds of nurses interact with this age group which can be a missed opportunity to intervene for the welfare of these youth. Interventions exist for depression and anxiety; however, they are not specific to nurses who care for young Hispanic-American patients. Methods: An integrative literature review was performed to identify nursing interventions for Hispanic American youth with depression …

Post-Acute Sequelae Of Covid-19 And Longitudinal Antibody Levels In A Community-Based Cohort, Noa Kopplin, Angie Garcia, Annika Reczek, Kate Wilkinson, Sruthi Yekkaluri, Caitlin C Murphy, Jasmin Tiro, Alagar R Muthukumar, Andrew Masica, Amit G Singal

Faculty, Staff and Student Publications

BACKGROUND: Coronavirus disease 2019 (COVID-19) infection invokes variable immune responses and poses a risk of post-acute sequelae SARS-CoV-2 infection (PASC) symptoms; however, most data on natural history are derived from patients with severe infection. Further data are needed among patients with mild infection, who comprise most cases.

METHODS: The Dallas Fort-Worth (DFW) COVID-19 Prevalence Study included 21,597 community-dwelling adults (ages 18-89) who underwent COVID-19 PCR and anti-nucleocapsid antibody testing between July 2020 and March 2021. We invited participants with positive COVID-19 results (cases) and a subset with negative results (controls), matched on age, sex, race/ethnicity, and ZIP code, to complete …

Social Determinant Of Health Impact On Diabetes Device Use And Clinical Outcomes In Youth With Type 1 Diabetes, Emily R Crain, Ryan Ramphul, Ashley M Butler, Xiaofan Huang, Charles G Minard, Maria J Redondo, Daniel J Desalvo

Faculty, Staff and Student Publications

Background: Youth with Type 1 diabetes (T1D) who are Black, Hispanic, or lower socioeconomic status (SES) have lower rates of diabetes device use, higher hemoglobin A1c (HbA1c), and higher rates of diabetic ketoacidosis (DKA). However, the associations of individual-level social determinants of health (SDoH) and neighborhood-level factors with device use and clinical outcomes are unknown. Area deprivation index (ADI) is a neighborhood level measure of SES reported in deciles (range 1-10 with 10 representing most deprived neighborhood).

Methods: We evaluated the association of ADI and other SDoH factors with pump/continuous glucose monitor (CGM) use, HbA1c, and DKA in 1,461 youth …

Associations Between Substance Use And Obesity Among Native American Adolescents, Joseph Jude Janosky

Walden Dissertations and Doctoral Studies

Obesity and substance use are two significant public health issues among Native American adolescents. Despite much evidence linking obesity and substance use during adolescence to several long-term health conditions and increased morbidity and mortality, evidence describing the relationship between current substance use and obesity among Native American adolescents is lacking. The purpose of this quantitative study was to investigate associations between current substance use – specifically alcohol, marijuana, and tobacco products – and obesity among Native American high school students, when adjusted for sex, soda consumption, and physical activity. Rosenstock’s health belief model served as the theoretical foundation for this …

Relationship Between Screentime And Depressive Symptoms And Associated Mediators For African American Adolescents In The United States, Brittney Jones

Walden Dissertations and Doctoral Studies

The prevalence of adolescent depression in the United States is increasing as adolescents’ use of electronic screen devices increases. Some studies have found associations between screentime and adolescent depression, and other researchers have posited that screentime is not intrinsically harmful. High screentime in African American adolescents may place them at risk for worse depressive symptom outcomes, but the relationship between screentime and depressive symptoms for this population is unknown. The three research questions of this study addressed whether there is a relationship between screentime and depressive symptoms in African American adolescents, and whether sleep duration and the frequency of physical …

Cannabis Use Disorder, Suicide Attempts, And Self-Harm Among Adolescents: A National Inpatient Study Across The United States, Adeolu Funso Oladunjoye, Elijah Li, Kammarauche Aneni, Edore Onigu-Otite

Faculty, Staff and Students Publications

Background: Suicide is among the top three causes of adolescent mortality. There is a scarcity of research examining cannabis use and suicidal behavior in adolescents.

Objectives: To determine the association between cannabis use disorder (CUD) and suicide attempt/self-harm in a hospitalized sample of adolescents.

Methods: We conducted a cross-sectional observation study using data from the Nationwide Inpatient Sample collected over four years from January 1, 2016, through December 31, 2019. We included adolescents aged 10-19 hospitalized during the above period (N = 807,105). The primary outcome was suicide attempt/self-harm and the main predictor was CUD. The International Classification of Diseases …

Validation Of The Brazilian Portuguese Version Of The Quick Inventory Of Depressive Symptomatology And Self-Report (Qids-Sr16) For The Brazilian Population, Lucas Bandinelli, Julia Luiza Schäfer, Bruno Kluwe-Schiavon, Rodrigo Grassi-Oliveira

Faculty, Staff and Student Publications

OBJECTIVES: To evaluate the psychometric properties of the Quick Inventory of Depressive Symptomatology (QID-SR16), a self-report instrument based on the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) criteria that assesses the severity of depression symptoms, in the Brazilian population.

METHODS: Participants were 4,400 Brazilians over the age of 15 years recruited for an online survey assessing depressive symptoms during the early phase of the coronavirus disease 2019 (COVID-19) pandemic in Brazil. The internal consistency, construct validity, and convergent and discriminant validity of the QIDS-SR16 were evaluated.

RESULTS: The model tested was considered an adequate fit to the …

Novel Psychiatric Disorder 6 Months After Traumatic Brain Injury In Children And Adolescents, Jeffrey E Max, Imogen Drake, Florin Vaida, John R Hesselink, Linda Ewing-Cobbs, Russell J Schachar, Sandra B Chapman, Erin D Bigler, Elisabeth A Wilde, Ann E Saunders, Tony T Yang, Olga Tymofiyeva, Harvey S Levin

Faculty, Staff and Student Publications

OBJECTIVE: To investigate the factors predictive of novel psychiatric disorders in the interval 0-6 months following traumatic brain injury (TBI).

METHODS: Children ages 5-14 years consecutively hospitalized for mild to severe TBI at five hospitals were recruited. Participants were evaluated at baseline (soon after injury) for pre-injury characteristics including psychiatric disorders, socioeconomic status (SES), psychosocial adversity, family function, family psychiatric history, and adaptive function. In addition to the psychosocial variables, injury severity and lesion location detected with acquisition of a research MRI were measured to develop a biopsychosocial predictive model for development of novel psychiatric disorders. Psychiatric outcome, including occurrence …

Delayed Presentation Of Berardinelli-Siep Lipodystrophy In An Adolescent Female, Courtney Cleary, Nadine Gordon, Sheela Gavvala

Faculty, Staff and Student Publications

Berardinelli-Siep syndrome (BSS) is a form of congenital generalized lipodystrophy that disrupts the pathways of lipid metabolism. It presents with physical exam findings, including muscular hypertrophy and lipoatrophy as well as serious metabolic consequences such as diabetes mellitus, hypertriglyceridemia, acute pancreatitis, hepatomegaly, and hepatic steatosis. Diagnosis generally occurs soon after birth or in childhood. The case presented is significant for a delayed diagnosis of suspected BSS Type 1 which is rather uncommon in a developed country. Due to the detrimental complications of BSS, such as hypertrophic cardiomyopathy, pancreatitis, and liver disease, early diagnosis and intervention are crucial. Pediatric providers must …

Late Effects Of Craniospinal Irradiation Using Electron Spinal Fields For Pediatric Patients With Cancer, Brian De, Marcus A Florez, Ethan B Ludmir, Moshe H Maor, Susan L Mcgovern, Mary Frances Mcaleer, David R Grosshans, Eric L Chang, Anita Mahajan, Arnold C Paulino

Faculty, Staff and Student Publications

Purpose: For children, craniospinal irradiation (CSI) with photons is associated with significant toxic effects. The use of electrons for spinal fields is hypothesized to spare anterior structures but the long-term effects remain uncertain. We studied late effects of CSI using electrons for spinal radiation therapy (RT).

Methods and materials: Records of 84 consecutive patients treated with CSI using electrons for the spine at a single institution between 1983 and 2014 were reviewed. Median age at RT was 5 (range, 1-14) years. The most common histologies were medulloblastoma/primitive neuroectodermal tumor (59%) and ependymoma (8%). The median prescribed dose to the entire …

Targeted Genomic Sequencing Of Tsc1 And Tsc2 Reveals Causal Variants In Individuals For Whom Previous Genetic Testing For Tuberous Sclerosis Complex Was Normal, Hannah D West, Mark Nellist, Rutger W W Brouwer, Mirjam C G N Van Den Hout-Van Vroonhoven, Luiz Gustavo Dufner De Almeida, Femke Hendriks, Peter Elfferich, Meera Raja, Peter Giles, Rosa M Alfano, Angela Peron, Yves Sznajer, Liesbeth De Waele, Anna Jansen, Marije Koopmans, Anneke Kievit, Laura S Farach, Hope Northrup, Julian R Sampson, Laura E Thomas, Wilfred F J Van Ijcken

Faculty, Staff and Student Publications

Tuberous sclerosis complex (TSC) is caused by inactivating variants in TSC1 and TSC2. Somatic mosaicism, as well as the size and complexity of the TSC1 and TSC2 loci, makes variant identification challenging. Indeed, in some individuals with a clinical diagnosis of TSC, diagnostic testing fails to identify an inactivating variant. To improve TSC1 and TSC2 variant detection, we screened the TSC1 and TSC2 genomic regions using targeted HaloPlex custom capture and next-generation sequencing (NGS) in genomic DNA isolated from peripheral blood of individuals with definite, possible or suspected TSC in whom no disease-associated variant had been identified by previous …