Medicine and Health Sciences Commons^™

An Education Intervention To Increase Rounding And Toileting And Reduce Falls In A Hospital Acute Care Of The Elderly (Ace) Unit, Amelia Grayson

Doctoral Projects

Introduction: Falls are the most common accident reported in acute care hospitals and patients who are 65 and older are the most vulnerable. Falls can lead to physical and emotional injury, reduced mobility and functioning, increased length of hospital stay, increased healthcare costs, and admission to long-term care facilities. In 2008, the Center for Medicare & Medicaid Services (CMS) has eliminated reimbursement to hospitals for treatment of injuries resulting from a fall during hospitalization. Research on fall prevention in adult acute care found multifactorial interventions that address multiple risk factors for falls are the most successful at prevention. This …

Left Frontal Hub Connectivity Delays Cognitive Impairment In Autosomal-Dominant And Sporadic Alzheimer's Disease, Nicolai Franzmeier, Anne M Fagan, Katrina Paumier, Tammie Benzinger, John C Morris, Randall J Bateman, Et Al.

2010-2019 OA Pubs

Patients with Alzheimer's disease vary in their ability to sustain cognitive abilities in the presence of brain pathology. A major open question is which brain mechanisms may support higher reserve capacity, i.e. relatively high cognitive performance at a given level of Alzheimer's pathology. Higher functional MRI-assessed functional connectivity of a hub in the left frontal cortex is a core candidate brain mechanism underlying reserve as it is associated with education (i.e. a protective factor often associated with higher reserve) and attenuated cognitive impairment in prodromal Alzheimer's disease. However, no study has yet assessed whether such hub connectivity of the left …

Seeing The Forest And The Trees: Default Local Processing In Individuals With High Autistic Traits Does Not Come At The Expense Of Global Attention., Ryan A Stevenson, Sol Z Sun, Naomi Hazlett, Jonathan S Cant, Morgan D Barense, Susanne Ferber

Brain and Mind Institute Researchers' Publications

Atypical sensory perception is one of the most ubiquitous symptoms of autism, including a tendency towards a local-processing bias. We investigated whether local-processing biases were associated with global-processing impairments on a global/local attentional-scope paradigm in conjunction with a composite-face task. Behavioural results were related to individuals' levels of autistic traits, specifically the Attention to Detail subscale of the Autism Quotient, and the Sensory Profile Questionnaire. Individuals showing high rates of Attention to Detail were more susceptible to global attentional-scope manipulations, suggesting that local-processing biases associated with Attention to Detail do not come at the cost of a global-processing deficit, but …

Hospital-Based Physicians' Intubation Decisions And Associated Mental Models When Managing A Critically And Terminally Ill Older Patient., Shannon Haliko, Julie Downs, Deepika Mohan, Robert Arnold, Amber E Barnato

Articles, Abstracts, and Reports

BACKGROUND: Variation in the intensity of acute care treatment at the end of life is influenced more strongly by hospital and provider characteristics than patient preferences.

OBJECTIVE: We sought to describe physicians' mental models (i.e., thought processes) when encountering a simulated critically and terminally ill older patient, and to compare those models based on whether their treatment plan was patient preference-concordant or preference-discordant.

METHODS: Seventy-three hospital-based physicians from 3 academic medical centers engaged in a simulated patient encounter and completed a mental model interview while watching the video recording of their encounter. We used an "expert" model to code the …

A Test Of Multisession Automatic Action Tendency Retraining To Reduce Alcohol Consumption Among Young Adults In The Context Of A Human Laboratory Paradigm., Robert F Leeman, Christine Nogueira, Reinout W Wiers, Janna Cousijn, Kelly Serafini, Kelly S Demartini, John A Bargh, Stephanie S O'Malley

Articles, Abstracts, and Reports

BACKGROUND: Young adult heavy drinking is an important public health concern. Current interventions have efficacy but with only modest effects, and thus, novel interventions are needed. In prior studies, heavy drinkers, including young adults, have demonstrated stronger automatically triggered approach tendencies to alcohol-related stimuli than lighter drinkers. Automatic action tendency retraining has been developed to correct this tendency and consequently reduce alcohol consumption. This study is the first to test multiple iterations of automatic action tendency retraining, followed by laboratory alcohol self-administration.

METHODS: A total of 72 nontreatment-seeking, heavy drinking young adults ages 21 to 25 were randomized to automatic …

Early Relapse After Autologous Hematopoietic Cell Transplantation Remains A Poor Prognostic Factor In Multiple Myeloma But Outcomes Have Improved Over Time, Shaji K. Kumar, Angela Dispenzieri, Raphael Fraser, Fei Mingwei, Gorgun Akpek, Robert Cornell, Mohamed Kharfan-Dabaja, Cesar Freytes, Shahrukh Hashmi, Gerhard C. Hildebrandt, Leona Holmberg, Robert Kyle, Hillard Lazarus, Cindy Lee, Jospeh Mikhael, Taiga Nishihori, Jason Tay, Saad Usmani, David Vesole, Ravi Vij, Baldeep Wirk, Amrita Krishnan, Cristina Gasparetto, Tomer Mark, Yago Nieto, Parameswaran Hari, Anita D'Souza

Internal Medicine Faculty Publications

Duration of initial disease response remains a strong prognostic factor in multiple myeloma (MM) particularly for upfront autologous hematopoietic cell transplant (AHCT) recipients. We hypothesized that new drug classes and combinations employed prior to AHCT as well as after post-AHCT relapse may have changed the natural history of MM in this population. We analyzed the Center for International Blood and Marrow Transplant Research database to track overall survival (OS) of MM patients receiving single AHCT within 12 months after diagnosis (N=3256) and relapsing early post-AHCT (< 24 months), and to identify factors predicting for early vs late relapses (24−48 months post-AHCT). Over three periods (2001–2004, 2005–2008, 2009–2013), patient characteristics were balanced except for lower proportion of Stage III, higher likelihood of one induction therapy with novel triplets and higher rates of planned post-AHCT maintenance over time. The proportion of patients relapsing early was stable over time at 35–38%. Factors reducing risk of early relapse included lower stage, chemosensitivity, transplant after 2008 and post-AHCT maintenance. Shorter post-relapse OS was associated with early relapse, IgA MM, Karnofsky < 90, stage III, > 1 line of induction and lack of maintenance. Post-AHCT early relapse remains …

Cardiac Magnetic Resonance To Evaluate Percutaneous Pulmonary Valve Implantation In Children And Young Adults, Cesar Gonzalez De Alba, Fernando Molina Berganza, John Brownlee, Muhammad Khan, Dilachew Adebo

The Texas Heart Institute Journal

Experience with cardiac magnetic resonance to evaluate coronary arteries in children and young adult patients is limited. Because noninvasive imaging has advantages over coronary angiography, we compared the effectiveness of these techniques in patients who were being considered for percutaneous pulmonary valve implantation.

We retrospectively reviewed the cases of 26 patients (mean age, 12.53 ± 4.85 yr; range, 5–25 yr), all of whom had previous right ventricular-to-pulmonary artery homografts. We studied T2-prepared whole-heart images for coronary anatomy, velocity-encoded cine images for ventricular morphology, and function- and time-resolved magnetic resonance angiographic findings. Cardiac catheterization studies included coronary angiography, balloon compression testing, …

Murmur Associated With Diastolic Paradoxical Jet Flow In A 43-Year-Old Man With Hypertrophic Cardiomyopathy, Michiyo Yamano, Tatsuya Kawasaki, Hirokazu Shiraishi, Tadaaki Kamitani, Takatomo Shima, Takashi Nakamura, Satoaki Matoba

The Texas Heart Institute Journal

A diastolic paradoxical jet flow, often seen in patients with hypertrophic cardiomyopathy, is a unique flow from the apex toward the base of the left ventricle during isovolumic relaxation. To date, this phenomenon appears to have been noninvasively detected only on echocardiograms. We report the case of a 43-year-old man with hypertrophic cardiomyopathy and a diastolic paradoxical jet flow, in whom cardiac auscultation revealed a soft S4, a systolic ejection murmur, and a low-pitched early diastolic murmur immediately after S2 at the apex. On comparing his echocardiographic findings with those on phonocardiograms and apexcardiograms, we confirmed that the unusual murmur …

Identifying Health Conditions, Priorities, And Relevant Multilevel Health Promotion Intervention Strategies In African American Churches: A Faith Community Health Needs Assessment., Jannette Berkley-Patton, Carole Bowe Thompson, Andrea Bradley-Ewing, Marcie Berman, Alexandria Bauer, Delwyn Catley, Kathy Goggin, Eric Williams, Cassandra Wainright, Therese Petty, Natasha Aduloju-Ajijola

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Prenatal Exposure To Methadone Or Buprenorphine: Early Childhood Developmental Outcomes., Karol Kaltenbach, Kevin E O'Grady, Sarah H. Heil, Amy L. Salisbury, Mara G. Coyle, Gabriele Fischer, Peter R. Martin, Susan Stine, Hendrée E. Jones

Department of Pediatrics Faculty Papers

BACKGROUND: Methadone and buprenorphine are recommended to treat opioid use disorders during pregnancy. However, the literature on the relationship between longer-term effects of prenatal exposure to these medications and childhood development is both spare and inconsistent.

METHODS: Participants were 96 children and their mothers who participated in MOTHER, a randomized controlled trial of opioid-agonist pharmacotherapy during pregnancy. The present study examined child growth parameters, cognition, language abilities, sensory processing, and temperament from 0 to 36 months of the child's life. Maternal perceptions of parenting stress, home environment, and addiction severity were also examined.

RESULTS: Tests of mean differences between children …

Performance Of Xpert Mtb/Rif By Using Gastric Lavage Samplein The Diagnosis Of Pulmonary Tuberculosis In Hiv Patients Withsuspected Pulmonary Tuberculosis, Manuel Lamberto Willem Mboeik, Ceva Wicaksono Pitoyo, Teguh Harjono Karjadi, Anis Karuniawati, Esthika Dewiasty

Jurnal Penyakit Dalam Indonesia

Introduction. Xpert MTB/RIF test on gastric lavage sample may improve pulmonary tuberculosis (TB) case finding, but its performance as a diagnostic test for pulmonary TB in HIV-infected adults patients has not been studied widely, including in Indonesia. This study aims to determine the performance of the Xpert MTB/RIF test in diagnosing pulmonary tuberculosis 30 | Jurnal Penyakit Dalam Indonesia | Vol. 5, No. 1 | Maret 2018 Manuel Lamberto Willem Mboeik, Ceva Wicaksono Pitoyo, Teguh Harjono Karjadi, Anis Karuniawati, Esthika Dewiasty among HIV-infected adult patients with suspected pulmonary tuberculosis by using gastric lavage sample. Method. A cross-sectional study was conducted …

Sickle Cell Disease: Classification Of Clinical Complications And Approaches To Preventive And Therapeutic Management., Samir K. Ballas

Department of Medicine Faculty Papers

Sickle cell disease (SCD) is an inherited disorder of hemoglobin structure that has no established cure in adult patients. Cure has been achieved in selected children with sickle cell anemia (SCA) using allogeneic bone marrow transplantation or cord blood transplantation. SCD is essentially a triumvirate of (1) pain syndromes, (2) anemia and its sequelae and (3) organ failure, including infection. Pain, however, is the hallmark of SCD and dominates its clinical picture throughout the life of the patients. The prevalence of these complications varies with age from infancy through adult life. However, pain, infections and anemia requiring blood transfusion occur …

Utilization Of Prevention Of Mother-To-Child Transmission (Pmtct) Services Among Pregnant Women In Hiv Care In Uganda: A 24-Month Cohort Of Women From Pre-Conception To Post-Delivery., Rhoda K Wanyenze, Kathy Goggin, Sarah Finocchario-Kessler, Jolly Beyeza-Kashesya, Deborah Mindry, Josephine Birungi, Mahlet Woldetsadik, Glenn J Wagner

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: We assessed the uptake of prevention of mother-to-child transmission (PMTCT) services in a cohort of HIV infected women in care at The AIDS Support Organization Jinja and Kampala in Uganda, who were trying to conceive, over a period of 24 months, to inform the strengthening of PMTCT service access for women in care.

RESULTS: Of the 299 women 127 (42.5%) reported at least one pregnancy within 24 months; 61 women (48.0%) delivered a live child. Of the 55 who had a live birth at the first pregnancy, 54 (98.2%) used antenatal care (ANC) starting at 15.5 weeks of gestation …

Prevalence, Incidence, And Clearance Of Anal High-Risk Human Papillomavirus Infection Among Hiv-Infected Men In The Sun Study, Pragna Patel, Tim Bush, Erna Milunka Kojic, Lois Conley, Elizabeth R Unger, Teresa M Darragh, Keith Henry, John Hammer, Gerome Escota, Joel M Palefsky, John T Brooks

2010-2019 OA Pubs

BACKGROUND: The natural history of anal human papilloma virus (HPV) infection among human immunodeficiency virus (HIV)-infected men is unknown.

METHODS: Annually, from 2004 to 2012, we examined baseline prevalence, incidence, and clearance of anal HPV infection at 48 months, and associated factors among HIV-infected men.

RESULTS: We examined 403 men who have sex with men (MSM) and 96 men who have sex with women (MSW) (median age 42 years for both, 78% versus 81% prescribed cART, median CD4+ T-lymphocyte cell count 454 versus 379 cells/mm3, and 74% versus 75% had undetectable viral load, respectively). Type 16 prevalence among MSM and …

Factors Associated With End-Of-Life Planning In Huntington Disease., Nancy R Downing, Siera Goodnight, Sena Chae, Joel S Perlmutter, Michael Mccormack, Elizabeth Hahn, Stacey K Barton, Noelle Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

OBJECTIVE: Knowledge of one's gene status for adult onset conditions provides opportunity to make advance end-of-life (EOL) plans. The purposes of these analyses were to (1) determine the prevalence of EOL plans, including advance directives (ADs) among persons across 3 stages of Huntington disease (HD) and (2) examine factors associated with having ADs in this sample.

METHODS: Data are from 503 participants in the HD Quality of Life study. Participants completed an online health-related quality-of-life survey that included questions regarding EOL planning and self-reported HD symptoms. Frequencies were calculated for EOL planning by the HD stage. Bivariate analysis and logistic …

Evaluating Cognition In Individuals With Huntington Disease: Neuroqol Cognitive Functioning Measures, Jin-Shei Lai, Siera Goodnight, Nancy R Downing, Rebecca E Ready, Jane S Paulsen, Anna L Kratz, Julie C Stout, Michael K Mccormack, David Cella, Christopher Ross, Jenna Russell, Noelle E Carlozzi

Rowan-Virtua School of Osteopathic Medicine Departmental Research

PURPOSE: Cognitive functioning impacts health-related quality of life (HRQOL) for individuals with Huntington disease (HD). The Neuro-QoL includes two patient-reported outcome (PRO) measures of cognition-Executive Function (EF) and General Concerns (GC). These measures have not previously been validated for use in HD. The purpose of this analysis is to evaluate the reliability and validity of the Neuro-QoL Cognitive Function measures for use in HD.

METHODS: Five hundred ten individuals with prodromal or manifest HD completed the Neuro-QoL Cognition measures, two other PRO measures of HRQOL (WHODAS 2.0 and EQ5D), and a depression measure (PROMIS Depression). Measures of functioning The Total …

A Longitudinal Analysis Of The Impact Of Child Custody Loss On Drug Use And Crime Among A Sample Of African American Mothers, Kathi L. H. Harp, Carrie B. Oser

Health Management and Policy Faculty Publications

This study examines the influence of child custody loss on drug use and crime among a sample of African American mothers. Two types of custody loss are examined: informal custody loss (child living apart from mother but courts not involved), and official loss (child removed from mother’s care by authorities).

Methods—Using data from 339 African American women, longitudinal random coefficient models analyzed the effects of each type of custody loss on subsequent drug use and crime.

Results—Results indicated that both informal and official custody loss predicted increased drug use, and informal loss predicted increased criminal involvement. Findings demonstrate …

Immediate Versus Delayed Insertion Of The Levonorgestrel Intrauterine Device In Postpartum Adolescents: A Randomized Pilot Study., Reni Soon, Katie Mcguire, Jennifer Salcedo, Bliss Kaneshiro

Articles, Abstracts, and Reports

This pilot study assessed the feasibility of conducting a larger randomized controlled trial comparing the proportion of adolescents using a levonorgestrel intrauterine device (LNG IUD) at six months postpartum when it is inserted immediately after vaginal delivery (within 10 minutes after placental expulsion) compared to insertion four to six weeks postpartum. Pregnant adolescents (14 to 19 years) who desired a LNG IUD for postpartum contraception were randomized to insertion of the LNG IUD either within 10 minutes of delivery of the placenta or at 4-6 weeks postpartum. Study follow-up visits were conducted at 4-6 weeks postpartum, 10 weeks postpartum, and …

In-Hospital Mortality And Post-Surgical Complications Among Cancer Patients With Metabolic Syndrome, Tomi Akinyemiju, Swati Sakhuja, Neomi Vin-Raviv

Epidemiology and Environmental Health Faculty Publications

Background

Metabolic syndrome (MetS) is an important etiologic and prognostic factor for cancer, but few studies have assessed hospitalization outcomes among patients with both conditions.

Methods

Data was obtained from the Healthcare Cost and Utilization project Nationwide Inpatient Sample (HCUP-NIS). Study variables were assessed using ICD-9 codes on adults aged 40 years and over admitted to a US hospital between 2007 and 2011 with primary diagnosis of either breast, colorectal, or prostate cancer. We examined in-hospital mortality, post-surgical complications, and discharge disposition among cancer patients with MetS and compared with non-MetS patients.

Results

Hospitalized breast (OR: 0.31, 95% CI: 0.20–0.46), …

Extracorporeal Cellular Therapy (Elad) In Severe Alcoholic Hepatitis: A Multinational, Prospective, Controlled, Randomized Trial., Julie Thompson, Natasha Jones, Ali Al-Khafaji, Shahid Malik, David Reich, Santiago Munoz, Ross Macnicholas, Tarek Hassanein, Lewis Teperman, Lance Stein, Andrés Duarte-Rojo, Raza Malik, Talal Adhami, Sumeet Asrani, Nikunj Shah, Paul Gaglio, Anupama Duddempudi, Brian Borg, Rajiv Jalan, Robert Brown, Heather Patton, Rohit Satoskar, Simona Rossi, Amay Parikh, Ahmed Elsharkawy, Parvez Mantry, Linda Sher, David Wolf, Marquis Hart, Charles Landis, Alan Wigg, Shahid Habib, Geoffrey Mccaughan, Steven Colquhoun, Alyssa Henry, Patricia Bedard, Lee Landeen, Michael Millis, Robert Ashley, William Frank, Andrew Henry, Jan Stange, Ram Subramanian

Articles, Abstracts, and Reports

Severe alcoholic hepatitis (sAH) is associated with a poor prognosis. There is no proven effective treatment for sAH, which is why early transplantation has been increasingly discussed. Hepatoblastoma-derived C3A cells express anti-inflammatory proteins and growth factors and were tested in an extracorporeal cellular therapy (ELAD) study to establish their effect on survival for subjects with sAH. Adults with sAH, bilirubin ≥8 mg/dL, Maddrey's discriminant function ≥ 32, and Model for End-Stage Liver Disease (MELD) score ≤ 35 were randomized to receive standard of care (SOC) only or 3-5 days of continuous ELAD treatment plus SOC. After a minimum follow-up of …

Demographic, Presentation, And Treatment Factors And Racial Disparities In Ovarian Cancer Hospitalization Outcomes, Tomi F. Akinyemiju, Gurudatta Naik, Kemi Ogunsina, Daniel T. Dibaba, Neomi Vin-Raviv

Epidemiology and Environmental Health Faculty Publications

BACKGROUND: This study examines whether racial disparities in hospitalization outcomes persist between African-American and White women with ovarian cancer after matching on demographic, presentation, and treatment factors.

METHODS: Using data from the Nationwide Inpatient Sample database, 5,164 African-American ovarian cancer patients were sequentially matched with White patients on demographic (e.g., age, income), presentation (e.g., stage, comorbidities), and treatment (e.g., surgery, radiation) factors. Racial differences in-hospital length of stay, post-operative complications, and in-hospital mortality were evaluated using conditional logistic regression models.

RESULTS: White ovarian cancer patients had relatively higher odds of post-operative complications when matched on demographics (OR 1.35, 95% CI …

Effects Of Adjunctive Eslicarbazepine Acetate On Serum Lipids In Patients With Partial-Onset Seizures: Impact Of Concomitant Statins And Enzyme-Inducing Antiepileptic Drugs., Scott Mintzer, Robert T. Wechsler, Joanne B. Rogin, Barry E. Gidal, Matthias Schwab, Elinor Ben-Menachem, Mar Carreño, Patrício Soares Da Silva, Joana Moreira, Yan Li, David Blum, Todd Grinnell

Department of Neurology Faculty Papers

PURPOSE: To evaluate the effects of eslicarbazepine acetate (ESL) on lipid metabolism and to determine whether reduced statin exposure during ESL therapy has clinical consequences.

SUBJECTS AND METHODS: We conducted a post-hoc analysis of pooled data for serum lipids (laboratory values) from three phase III, multicenter, randomized, double-blind, placebo-controlled trials of adjunctive ESL therapy (400, 800, or 1200 mg once daily) in patients with treatment-refractory partial-onset seizures. Changes from baseline in serum lipid levels were analyzed according to use of statins and/or enzyme-inducing antiepileptic drugs (EIAEDs) during the baseline period.

KEY FINDINGS: In total, 426 and 1021 placebo- and ESL-treated …

Patient And Hospital Characteristics Predictive Of Inferior Vena Cava Filter Usage In Venous Thromboembolism Patients: A Study From The 2013 To 2014 Nationwide Readmissions Database, Amie Goodin, Ming Chen, Driss Raissi, Qiong Han, Hong Xiao, Joshua Brown

Radiology Faculty Publications

To examine the association between patient and hospital characteristics and inferior vena cava filter (IVCF) utilization in patients with venous thromboembolism (VTE).

The 2013 to 2014 Nationwide Readmissions Database was used to define a cohort of patients with VTE aged ≥ 18 after a primary VTE diagnosis. Comorbidities of interest were classified via diagnosis codes and IVCF placement was identified via procedure code. Chi square analysis tested differences between patient and hospital-level characteristics and whether or not IVCFs were placed. A hierarchical logistic regression model estimated the relationship between patient-level factors (demographics, socioeconomic status, comorbidities), hospital-level factors (bed size, teaching …

Free-Breathing Pulmonary Mr Imaging To Quantify Regional Ventilation, Dante P I Capaldi, Rachel L Eddy, Sarah Svenningsen, Fumin Guo, John S H Baxter, A Jonathan Mcleod, Parameswaran Nair, David G Mccormack, Grace Parraga

Medical Biophysics Publications

Purpose: To measure regional specific ventilation with free-breathing hydrogen 1 (1H) magnetic resonance (MR) imaging without exogenous contrast material and to investigate correlations with hyperpolarized helium 3 (3He) MR imaging and pulmonary function test measurements in healthy volunteers and patients with asthma.

Materials and Methods: Subjects underwent free-breathing 1H and static breath-hold hyperpolarized 3He MR imaging as well as spirometry and plethysmography; participants were consecutively recruited between January and June 2017. Free-breathing 1H MR imaging was performed with an optimized balanced steady-state free-precession sequence; images were retrospectively grouped into tidal inspiration or tidal expiration volumes with exponentially weighted phase interpolation. …

Stigma Gets In My Way: Factors Affecting Client-Provider Communication Regarding Childbearing Among People Living With Hiv In Uganda., Jolly Beyeza-Kashesya, Rhoda K. Wanyenze, Kathy Goggin, Sarah Finocchario-Kessler, Mahlet Atakilt Woldetsadik, Deborah Mindry, Josephine Birungi, Glenn J. Wagner

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Many HIV-affected couples living in sub-Saharan Africa desire to have children, but few quantitative studies have examined support for their childbearing needs. Our study explored client-provider communication about childbearing and safer conception among HIV clients in Uganda.

METHODS: 400 Ugandan HIV clients in committed relationships and with intentions to conceive were surveyed. Knowledge, attitudes and practices related to childbearing, and use of safer conception methods were assessed, including communication with providers about childbearing needs, the correlates of which were examined with bivariate statistics and logistic multivariate analysis.

RESULTS: 75% of the sample was female; 61% were on antiretroviral therapy; …

Peripheral Blood Epi-Signature Of Claes-Jensen Syndrome Enables Sensitive And Specific Identification Of Patients And Healthy Carriers With Pathogenic Mutations In Kdm5c, Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic

Paediatrics Publications

Background

Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the

Results

Genome-wide DNA methylation analysis of 7 male patients affected with Claes-Jensen syndrome and 56 age- and sex-matched controls identified a specific DNA methylation defect (epi-signature) in the peripheral blood of these patients, including 1769 individual CpGs and 9 genomic regions. Six healthy female carriers showed less pronounced but distinctive changes in the same regions enabling their differentiation from both patients and controls. Highly specific computational model using the most significant methylation changes demonstrated 100% accuracy in differentiating patients, carriers, and controls in the training cohort, …

Policy Determinants Of Physical Activity Across The Life Course: A Dedipac' Umbrella Systematic Literature Review, Anna Puggina, Katina Aleksovska, Christoph Buck, Con Burns, Greet Cardon, Angela Carlin, Simon Chantal, Donatella Ciarapica, Giancarlo Condello, Tara Coppinger, Cristina Cortis, Sara D'Haese, Marieke De Craemer, Andrea Di Blasio, Sylvia Hansen, Licia Iacoviello, Johann Issartel, Pascal Izzicupo, Lina Jaeschke, Martina Kanning, Aileen Kennedy, Fiona Chun Man Ling, Agnes Luzak, Giorgio Napolitano, Julie Anne Nazare, Camille Perchoux, Tobias Pischon, Angela Polito, Alessandra Sannella, Holger Schulz, Rhoda Sohun, Astrid Steinbrecher

Publications

Background Despite the large number of studies and reviews available, the evidence regarding the policy determinants of physical activity (PA) is inconclusive. This umbrella systematic literature review (SLR) summarizes the current evidence on the policy determinants of PA across the life course, by pooling the results of the available SLRs and meta-analyses (MAs). Methods A systematic online search was conducted on MEDLINE, ISI Web of Science, Scopus and SPORTDiscus databases up to April 2016. SLRs and MAs of observational studies investigating the association between policy determinants of PA and having PA as outcome were considered eligible. The extracted data were …

Genome-Wide Interactions With Dairy Intake For Body Mass Index In Adults Of European Descent, Caren E. Smith, Jack L. Follis, Hassan S. Dashti, Toshiko Tanaka, Mariaelisa Graff, Amanda M. Fretts, Tuomas O. Kilpeläinen, Mary K. Wojczynski, Kris Richardson, Mike A. Nalls, Christina-Alexandra Schulz, Yongmei Liu, Alexis C. Frazier-Wood, Esther Van Eekelen, Carol Wang, Paul S. De Vries, Vera Mikkilä, Rebecca Rohde, Bruce M. Psaty, Torben Hansen, Mary F. Feitosa, Chao-Qiang Lai, Denise K. Houston, Luigi Ferruci, Ulrika Ericson, Zhe Wang, Renée De Mutsert, Wendy H. Oddy, Ester A. L. De Jonge, Ilkka Seppälä, Donna K. Arnett

Epidemiology and Environmental Health Faculty Publications

Scope: Body weight responds variably to the intake of dairy foods. Genetic variation may contribute to inter‐individual variability in associations between body weight and dairy consumption.

Methods and results: A genome‐wide interaction study to discover genetic variants that account for variation in BMI in the context of low‐fat, high‐fat and total dairy intake in cross‐sectional analysis was conducted. Data from nine discovery studies (up to 25 513 European descent individuals) were meta‐analyzed. Twenty‐six genetic variants reached the selected significance threshold (p‐interaction <10⁻⁷⁾, and six independent variants (LINC01512‐rs7751666, PALM2/AKAP2‐rs914359, ACTA2‐rs1388, PPP1R12A‐rs7961195, LINC00333‐rs9635058, …

Interaction Between Pre-Treatment Drug Use And Heterogeneity Of Psychiatric Diagnosis Predicts Outcomes In Outpatients With Co-Occurring Disorders., Oladunni Oluwoye, Katherine Hirchak, Emily Leickly, Jordan Skalisky, Sterling M Mcpherson, Debra Srebnik, John M Roll, Richard K Ries, Michael G Mcdonell

Articles, Abstracts, and Reports

We examined whether the interaction of baseline stimulant use, assessed by urine drug tests, and type of serious mental illness (SMI) diagnosis predicted stimulant use in a trial of contingency management (CM). The interaction between baseline stimulant use and SMI diagnoses was significant in the overall sample (p=0.002) when controlling for the main effects of treatment condition, baseline stimulant use, and SMI diagnosis. Similar results were also found within the CM sample. Individuals with bipolar disorder were more or less likely, depending on their baseline stimulant-drug test results, to use stimulants during treatment compared to those with other SMI diagnoses.

Symptomatic Celiomesenteric Trunk: Variable Presentations And Outcomes In 2 Patients, Michael L Kueht, Darrel L Wu, Joseph L Mills, Ramyar Gilani

The Texas Heart Institute Journal

Mesenteric ischemia can be difficult to diagnose without a high degree of suspicion because it presents in a variety of ways. Visceral vascular collaterals between the fore- and midgut often provide protection against ischemia; however, the presence of anatomic variations, such as celiomesenteric trunk, can undermine the expected redundancy. Misdiagnosis can result in prolonged suffering or death, as evidenced in 2 of our patients with celiomesenteric trunk. The first patient with chronic mesenteric ischemia was diagnosed in the clinic and underwent successful surgical correction; the other had overwhelming, acute mesenteric ischemia, which resulted in death. Our cases show that successful …