Digital Commons Network^™

Adherence To Insulin Pump Behaviors In Young Children With Type 1 Diabetes Mellitus., Susana R. Patton, Kimberly A. Driscoll, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Parents of young children are responsible for daily type 1 diabetes (T1DM) cares including insulin bolusing. For optimal insulin pump management, parents should enter a blood glucose result (SMBG) and a carbohydrate estimate (if food will be consumed) into the bolus advisor in their child's pump to assist in delivering the recommended insulin bolus. Previously, pump adherence behaviors were described in adolescents; we describe these behaviors in a sample of young children.

METHODS: Pump data covering between 14-30 consecutive days were obtained for 116 children. Assessed adherence to essential pump adherence behaviors (eg, SMBG, carbohydrate entry, and insulin use) …

A Novel Approach To Identifying A Neuroimaging Biomarker For Patients With Serious Mental Illness, Alok Madan, J Christopher Fowler, Michelle A Patriquin, Ramiro Salas, Philip R Baldwin, Kenia M Velasquez, Humsini Viswanath, David L Molfese, Carla Sharp, Jon G Allen, Susan Hardesty, John M Oldham, B Christopher Frueh

Staff and Researcher Publications

Serious mental illness (SMI) is disabling, and current interventions are ineffective for many. This exploratory study sought to demonstrate the feasibility of applying topological data analysis (TDA) to resting-state functional connectivity data obtained from a heterogeneous sample of 235 adult inpatients to identify a biomarker of treatment response. TDA identified two groups based on connectivity between the prefrontal cortex and striatal regions: patients admitted with greater functional connectivity between these regions evidenced less improvement from admission to discharge than patients with lesser connectivity between them. TDA identified a potential biomarker of an attenuated treatment response among inpatients with SMI. Insofar …

Being In Relationship: The Experience Of A Female Dance/Movement Therapy Intern On A Male Residential Unit For Sexually Problematic Behaviors, Krista Tyner

Creative Arts Therapies Theses

This study serves to explore the experience of a female dance/movement therapy intern working with males on a residential unit for sexually problematic behaviors. It enlightened me on how it was to be in relationship with them, through both a mind and body therapeutic lens. It addresses stereotypes and preconceived notions pertaining to this population. The questions attempted to be answered were as follows: How is it to be in relationship with males who are on a residential unit for sexually problematic behavior, as a female dance/movement therapy intern? How do I experience male/female relationships, gender, and sexuality on the …

Role Of A Plausible Nuisance Contributor In The Declining Obesity-Mortality Risks Over Time., Tapan Mehta, Nicholas M. Pajewski, Scott W. Keith, Kevin Fontaine, David B. Allison

Department of Pharmacology and Experimental Therapeutics Faculty Papers

CONTEXT: Recent analyses of epidemiological data including the National Health and Nutrition Examination Survey (NHANES) have suggested that the harmful effects of obesity may have decreased over calendar time. The shifting BMI distribution over time coupled with the application of fixed broad BMI categories in these analyses could be a plausible "nuisance contributor" to this observed change in the obesity-associated mortality over calendar time.

OBJECTIVE: To evaluate the extent to which observed temporal changes in the obesity-mortality association may be due to a shifting population distribution for body mass index (BMI), coupled with analyses based on static, broad BMI categories. …

Dna Methylation Signatures Of Chronic Low-Grade Inflammation Are Associated With Complex Diseases, Symen Ligthart, Carola Marzi, Stella Aslibekyan, Michael M. Mendelson, Karen N. Conneely, Toshiko Tanaka, Elena Colicino, Lindsay L. Waite, Roby Joehanes, Weihua Guan, Jennifer A. Brody, Cathy Elks, Riccardo Marioni, Min A. Jhun, Golareh Agha, Jan Bressler, Cavin K. Ward-Caviness, Brian H. Chen, Tianxiao Huan, Kelly Bakulski, Elias L. Salfati, Whi-Empc Investigators, Giovanni Fiorito, Charge Epigenetics Of Coronary Heart Disease, Simone Wahl, Katharina Schramm, Jin Sha, Dena G. Hernandez, Allan C. Just, Jennifer A. Smith, Donna K. Arnett

Epidemiology and Environmental Health Faculty Publications

Background: Chronic low-grade inflammation reflects a subclinical immune response implicated in the pathogenesis of complex diseases. Identifying genetic loci where DNA methylation is associated with chronic low-grade inflammation may reveal novel pathways or therapeutic targets for inflammation.

Results: We performed a meta-analysis of epigenome-wide association studies (EWAS) of serum C-reactive protein (CRP), which is a sensitive marker of low-grade inflammation, in a large European population (n = 8863) and trans-ethnic replication in African Americans (n = 4111). We found differential methylation at 218 CpG sites to be associated with CRP (P < 1.15 × 10^–7) in the discovery panel …

Genomics And Csf Analyses Implicate Thyroid Hormone In Hippocampal Sclerosis Of Aging, Peter T. Nelson, Yuriko Katsumata, Kwangsik Nho, Sergey C. Artiushin, Gregory A. Jicha, Wang-Xia Wang, Erin L. Abner, Andrew J. Saykin, Walter A. Kukull, Alzheimer’S Disease Neuroimaging Initiative (Adni), David W. Fardo

Sanders-Brown Center on Aging Faculty Publications

We report evidence of a novel pathogenetic mechanism in which thyroid hormone dysregulation contributes to dementia in elderly persons. Two single nucleotide polymorphisms (SNPs) on chromosome 12p12 were the initial foci of our study: rs704180 and rs73069071. These SNPs were identified by separate research groups as risk alleles for non-Alzheimer’s neurodegeneration. We found that the rs73069071 risk genotype was associated with hippocampal sclerosis (HS) pathology among people with the rs704180 risk genotype (National Alzheimer’s Coordinating Center/Alzheimer’s Disease Genetic Consortium data; n = 2113, including 241 autopsy-confirmed HS cases). Furthermore, both rs704180 and rs73069071 risk genotypes were associated with widespread brain …

Step By Step: Biology Undergraduates' Problem-Solving Procedures During Multiple-Choice Assessment, Luanna B Prevost, Paula P Lemons

Integrative Biology Faculty and Staff Publications

This study uses the theoretical framework of domain-specific problem solving to explore the procedures students use to solve multiple-choice problems about biology concepts. We designed several multiple-choice problems and administered them on four exams. We trained students to produce written descriptions of how they solved the problem, and this allowed us to systematically investigate their problem-solving procedures. We identified a range of procedures and organized them as domain general, domain specific, or hybrid. We also identified domain-general and domain-specific errors made by students during problem solving. We found that students use domain-general and hybrid procedures more frequently when solving lower-order …

How Female Online Businesses And Brands Are Using Instagram Stories, Hannah N. Vanderslice

College of Journalism and Mass Communications: Theses

Instagram is one of the newest forms of social media that impacts its audience on a visual level, since the content is centered on photos and videos. Their newest feature, Instagram stories, is temporary videos and/or photos strung together to form a gallery, which has been compared to Snapchat’s version of live stories. Instagram stories offer a unique opportunity for businesses to take advantage of the temporary, 24-hour platform that shows specific frame-by-frame analytics that help create efficient and compelling content to repost permanently that helps organic search engine optimization. As a cost-effective means of advertising, early adopter large and …

Sickle Cell Disease With Cyanotic Congenital Heart Disease: Long-Term Outcomes In 5 Children, Glen J Iannucci, Olufolake A Adisa, Matthew E Oster, Michael Mcconnell, William T Mahle

The Texas Heart Institute Journal

Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental …

Should Neonatologists Give Opinions Withdrawing Life-Sustaining Treatment?, J S. Blumenthal-Barby, Laura Loftis, Christy L. Cummings, William Meadow, Monica Lemmon, Peter A. Ubel, Laurence Mccullough, Emily Rao, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

An infant has a massive intracranial hemorrhage. She is neurologically devastated and ventilator-dependent. The prognosis for pulmonary or neurologic recovery is bleak. The physicians and parents face a choice: withdraw the ventilator and allow her to die or perform a tracheotomy? The parents cling to hope for recovery. The physician must decide how blunt to be in communicating his own opinions and recommendations. Should the physician try to give just the facts? Or should he also make a recommendation based on his own values? In this article, experts in neonatology, decision-making, and bioethics discuss this situation and the choice that …

Cataract Surgery In Children From Birth To Less Than 13 Years Of Age: Baseline Characteristics Of The Cohort., Michael X. Repka, Trevano W. Dean, Elizabeth L. Lazar, Kimberly G. Yen, Phoebe D. Lenhart, Sharon F. Freedman, Denise Hug, Bahram Rahmani, Serena X. Wang, Raymond T. Kraker, David K. Wallace, Pediatric Eye Disease Investigator Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To describe baseline characteristics, initial postoperative refractive errors, operative complications, and magnitude of the intraocular lens (IOL) prediction error for refractive outcome in children undergoing lensectomy largely in North America.

DESIGN: Prospective registry study of children from birth to enrollment.

PARTICIPANTS: Total of 1266 eyes of 994 children; 49% female and 59% white.

METHODS: Measurement of refractive error, axial length, and complete ophthalmic examination.

MAIN OUTCOME MEASURES: Eye and systemic associated conditions, IOL style, refractive error, pseudophakic refraction prediction error, operative and perioperative complications.

RESULTS: Mean age at first eligible lens surgery was 4.2 years; 337 (34%) were(59%). Additional …

Endovascular Treatment Of Superior Vena Cava Syndrome Via Balloon-In-Balloon Catheter Technique With A Palmaz Stent, Wassim Shatila, Abdelkader Almanfi, Mehran Massumi, Kathryn G Dougherty, Dhaval R Parekh, Neil E Strickman

The Texas Heart Institute Journal

Superior vena cava syndrome is a well-known disease entity that carries substantial rates of morbidity and mortality. Although most cases of superior vena cava syndrome are secondary to a malignant process, additional causes (such as mediastinal fibrosis, pacemaker lead implantation, or central venous catheter placement) have been reported. Multiple treatment options include percutaneous transluminal angioplasty, stent implantation, thrombolysis, mechanical thrombectomy, and venous grafting. We present a case of superior vena cava syndrome in a symptomatic 30-year-old woman who obtained complete relief of obstruction and marked symptomatic improvement through venoplasty and stenting, aided by our use of a balloon-in-balloon catheter system.

Application Of 3-Dimensional Computed Tomographic Image Guidance To Watchman Implantation And Impact On Early Operator Learning Curve: Single-Center Experience, Dee Dee Wang, Marvin H. Eng, Daniel Kupsky, Eric Myers, Michael Forbes, Mehnaz Rahman, Mohammed Zaidan, Sachin Parikh, Janet Wyman, Milan Pantelic, Thomas Song, Jeffrey Nadig, Patrick Karabon, Adam Greenbaum, William O'Neill

Cardiology Articles

OBJECTIVES: The aim of this study was to examine the impact of 3-dimensional (3D) computed tomographic (CT) guided procedural planning for left atrial appendage (LAA) occlusion on the early operator WATCHMAN learning curve.

BACKGROUND: Traditional WATCHMAN implantation is dependent on 2-dimensional transesophageal echocardiographic (TEE) sizing and intraprocedural guidance.

METHODS: LAA occlusion with the WATCHMAN device was performed in 53 patients. Pre-procedural case plans were generated from CT studies with recommended device size, catheter selection, and C-arm angle for deployment.

RESULTS: All 53 patients underwent successful LAA occlusion with the WATCHMAN. Three-dimensional CT LAA maximal-width sizing was 2.7 ± 2.2 mm …

A Trial Of Unrelated Donor Marrow Transplantation For Children With Severe Sickle Cell Disease., Shalini Shenoy, Mary Eapen, Julie A. Panepinto, Brent R. Logan, Juan Wu, Allistair Abraham, Joel Brochstein, Sonali Chaudhury, Kamar Godder, Ann E. Haight, Kimberly A. Kasow, Kathryn Leung, Martin Andreansky, Monica Bhatia, Jignesh Dalal, Hilary Haines, Jennifer Jaroscak, Hillard M. Lazarus, John E. Levine, Lakshmanan Krishnamurti, David Margolis, Gail C. Megason, Lolie C. Yu, Michael A. Pulsipher, Iris Gersten, Nancy Difronzo, Mary M. Horowitz, Mark C. Walters, Naynesh Kamani

Manuscripts, Articles, Book Chapters and Other Papers

Children with sickle cell disease experience organ damage, impaired quality of life, and premature mortality. Allogeneic bone marrow transplant from an HLA-matched sibling can halt disease progression but is limited by donor availability. A Blood and Marrow Transplant Clinical Trials Network (BMT CTN) phase 2 trial conducted from 2008 to 2014 enrolled 30 children aged 4 to 19 years; 29 were eligible for evaluation. The primary objective was 1-year event-free survival (EFS) after HLA allele-matched (at HLA-A, -B, -C, and -DRB1 loci) unrelated donor transplant. The conditioning regimen included alemtuzumab, fludarabine, and melphalan. Graft-versus-host disease (GVHD) prophylaxis included calcineurin inhibitor, …

Non-Science Major Undergraduate Students’ High School Science Experiences: An Exploratory Case Study, Feng Li, Xuan Jiang

The Qualitative Report

Previous studies reported relatively low correlation coefficients between students’ high school science experiences and their science identities. This needs more exploratory studies to investigate the reasons for these low correlation coefficients. This article presents the high school science experiences of three non-science major undergraduate students and the influence from their experiences, in their perspective, on their choice of a non-science major in college. Three female Hispanic non-science major undergraduate students were interviewed about their high school science experiences. Data were analyzed to answer the research question: From three female Hispanic students’ perspectives, what are some factors from high school science …

Variation In Type And Frequency Of Diagnostic Imaging During Trauma Care Across Multiple Time Points By Patient Insurance Type, Nathaniel Bell, Laura Repáraz, William R. Fry, R Stephen Smith, Alejandro Luis

Faculty Publications

BACKGROUND:

Research has shown that uninsured patients receive fewer radiographic studies during trauma care, but less is known as to whether differences in care are present among other insurance groups or across different time points during hospitalization. Our objective was to examine the number of radiographic studies administered to a cohort of trauma patients over the entire hospital stay as well as during the first 24-hours of care.

METHODS:

Patient data were obtained from an American College of Surgeons (ACS) verified Level I Trauma Center between January 1, 2011 and December 31, 2012. We used negative binomial regression to construct …

Performance Of A1c Versus Ogtt For The Diagnosis Of Prediabetes In A Community-Based Screening, Jenny E. Camacho, Vallabh O. Shah, Ronald Schrader, Craig S. Wong, Mark R. Burge

Pediatrics Research and Scholarship

OBJECTIVE: Reliable identification of individuals at risk for developing diabetes is critical to instituting preventative strategies. Studies suggest that the accuracy of using hemoglobin A1c as a sole diagnostic criterion for diabetes may be variable across different ethnic groups. We postulate that there will be lack of concordance between A1c and the oral glucose tolerance test (OGTT) for diagnosing prediabetes across Hispanic and non-Hispanic white (NHW) populations.

METHODS: A total of 218 asymptomatic adults at risk for type 2 diabetes (T2D) were assessed with A1c and OGTT for the diagnosis of prediabetes. Glucose homeostasis status was assigned as no diabetes …

Risk Factors For Sleep-Related Infant Deaths In In-Home And Out-Of-Home Settings., Hilina Kassa, Rachel Y. Moon, Jeffrey D. Colvin

Manuscripts, Articles, Book Chapters and Other Papers

Background and objective: Multiple environmental risk factors are associated with sleep-related infant deaths. Little is known about differences in risk factors for deaths occurring in-home and out-of-home. We sought to compare risk factors for in-home and out-of-home infant deaths.

Methods: We conducted a cross-sectional analysis of sleep-related infant deaths from 2004 to 2014 in the National Child Fatality Review and Prevention database. The main exposure was setting (in-home versus out-of-home) at time of death. Primary outcomes were known risk factors: sleep position, sleep location (eg, crib), objects in the environment, and bed sharing. Risk factors for in-home versus out-of-home deaths …

Association Of Blood Pressure Variability And Neurocognition In Children With Chronic Kidney Disease., Marc B. Lande, Susan R. Mendley, Matthew B. Matheson, Shlomo Shinnar, Arlene C. Gerson, Joshua A. Samuels, Bradley A. Warady, Susan L. Furth, Stephen R. Hooper

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Children with chronic kidney disease (CKD) and hypertension have increased blood pressure variability (BPV), which has been associated with lower neurocognitive test scores in adults. Children with CKD are at risk for decreased neurocognitive function. Our objective was to determine whether children with CKD and increased BPV had worse performance on neurocognitive testing compared with children with CKD and lower BPV.

METHODS: This was a cross-sectional and longitudinal analysis of the relation between BPV and neurocognitive test performance in children ≥6 years enrolled in the Chronic Kidney Disease in Children (CKiD) study. Visit-to-visit BPV was assessed by the standard …

Duration Of Posttraumatic Amnesia Predicts Neuropsychological And Global Outcome In Complicated Mild Traumatic Brain Injury., Tessa Hart, Thomas A. Novack, Nancy Temkin, Jason Barber, Sureyya S. Dikmen, Ramon Diaz-Arrastia, Joseph Ricker, Dale C. Hesdorffer, Jack Jallo, Nancy H. Hsu, Ross Zafonte

Department of Neurosurgery Faculty Papers

OBJECTIVES: Examine the effects of posttraumatic amnesia (PTA) duration on neuropsychological and global recovery from 1 to 6 months after complicated mild traumatic brain injury (cmTBI).

PARTICIPANTS: A total of 330 persons with cmTBI defined as Glasgow Coma Scale score of 13 to 15 in emergency department, with well-defined abnormalities on neuroimaging.

METHODS: Enrollment within 24 hours of injury with follow-up at 1, 3, and 6 months.

MEASURES: Glasgow Outcome Scale-Extended, California Verbal Learning Test II, and Controlled Oral Word Association Test. Duration of PTA was retrospectively measured with structured interview at 30 days postinjury.

RESULTS: Despite all having a …

Progress Toward Eliminating Mother To Child Transmission Of Hiv In Kenya: Review Of Treatment Guideline Uptake And Pediatric Transmission At Four Government Hospitals Between 2010 And 2012., Sarah Finocchario-Kessler, Kristine F. Clark, Samoel Khamadi, Brad J. Gautney, Vincent Okoth, Kathy Goggin, Hitsystem Study Team

Manuscripts, Articles, Book Chapters and Other Papers

We analyzed prevention of mother-to-child transmission (PMTCT) data from a retrospective cohort of n = 1365 HIV+ mothers who enrolled their HIV-exposed infants in early infant diagnosis services in four Kenyan government hospitals from 2010 to 2012. Less than 15 and 20 % of mother-infant pairs were provided with regimens that met WHO Option A and B/B+ guidelines, respectively. Annually, the gestational age at treatment initiation decreased, while uptake of Option B/B+ increased (all p's < 0.001). Pediatric HIV infection was halved (8.6-4.3 %), yet varied significantly by hospital. In multivariable analyses, HIV-exposed infants who received no PMTCT (AOR 4.6 [2.49, 8.62], p < 0.001), mixed foods (AOR 5.0 [2.77, 9.02], p < 0.001), and care at one of the four hospitals (AOR 3.0 [1.51, 5.92], p = 0.002) were more likely to be HIV-infected. While the administration and uptake of WHO PMTCT guidelines is improving, an expanded focus on retention and medication adherence will further reduce pediatric HIV transmission.

Association Between Prolonged Neutropenia And Reduced Relapse Risk In Pediatric Aml: A Report From The Children's Oncology Group., Lillian Sung, Richard Aplenc, Todd A. Alonzo, Robert B. Gerbing, Yi-Cheng Wang, Soheil Meshinchi, A S. Gamis

Manuscripts, Articles, Book Chapters and Other Papers

Objective was to describe the relationship between the number of sterile site infections and duration of neutropenia during the first four cycles of chemotherapy and the risk of recurrence and overall survival in children with newly diagnosed acute myeloid leukemia (AML). AAML0531 was a Children's Oncology Group randomized phase 3 clinical trial that included 1022 children with de novo AML. For this analysis, we focused on non-Down syndrome favorable and standard risk patients who completed at least 4 cycles of chemotherapy without recurrence or withdrawal during protocol therapy. Those receiving hematopoietic stem cell transplantation in first remission were excluded. Five …

Parental Refusal Of Surgery In An Infant With Tricuspid Atresia., Alexander A. Kon, Angira Patel, Steven Leuthner, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

We present a case of a fetal diagnosis of tricuspid atresia (TA). The pregnant woman and her husband requested that the baby be treated with only palliative care. The cardiologist did not think it would be appropriate to withhold life-prolonging surgery once the infant was born. The neonatologist argued that outcomes for TA are similar to those for hypoplastic left heart syndrome, and the standard practice at the institution was to allow parents to choose surgery or end-of-life care for those infants. The team requested an ethics consultation to assist in determining whether forgoing life-prolonging interventions in this case would …

Exploring Married Iranian Women’S Perception Of The Meaning Of Sexual Marital Activity: A Qualitative Study, Sedigheh Pakseresht, Fatemeh Jafarzadeh-Kenarsari, Zahra Atrkar Roushan

The Qualitative Report

Sexual relationship is not limited to a merely biological process; it is an experience that is formed in a joint intrapersonal, interpersonal and cultural context. This study aimed to explore married Iranian women’s interpretation of sexual activity. The researchers conducted this qualitative study on 65 eligible married women aged 16-60 years attending prenatal care, family planning, and gynecology clinics in an educational hospital during 2012-2013. We collected data through 9 focus group discussions. We also used purposive sampling method with maximum variation for selecting study Participants. All interviews were continued until data saturation was achieved. Researchers used a conventional content …

A Continuum Of Admixture In The Western Hemisphere Revealed By The African Diaspora Genome, Rasika A. Mathias, Margaret A. Taub, Christopher R. Gignoux, Wenqing Fu, Shaila Musharoff, Timothy D. O'Connor, Candelaria Vergara, Dara G. Torgerson, Maria Pino-Yanes, Suyash S. Shringarpure, Lili Huang, Nicholas Rafaels, Meher P. Boorgula, Henry R. Johnston, Victor E. Ortega, Albert M. Levin, Wei Song, Raul Torres, Badri Padhukasahasram, Celeste Eng, Delmy-Aracely Mejia-Mejia, Trevor Ferguson, Zhaohui S. Qin, Alan F. Scott, Maria Yazdanbakhsh, James G. Wilson, Javier Marrugo, Leslie A. Lange, Rajesh Kumar, Pedro C Avila, Keoki L. Williams, Harold Watson, Lorraine B. Ware, Christopher Olopade, Olufunmilayo Olopade, Ricardo Oliveira, Carole Ober, Dan L. Nicolae, Deborah Meyers, Alvaro Mayorga, Jennifer Knight-Madden, Tina Hartert, Nadia N. Hansel, Marilyn G. Foreman, Jean G. Ford, Mezbah U. Faruque, Georgia M. Dunston, Luis Caraballo, Esteban G. Burchard, Eugene Bleecker, Maria Ilma Araujo, Edwin Francisco Herrera-Paz, Kimberly Gietzen, Wendy E. Grus, Michael Bamshad, Carlos D. Bustamante, Eimear E. Kenny, Ryan D. Hernandez, Terri H. Beaty, Ingo Ruczinski, Joshua Akey, Kathleen C. Barnes

Center for Health Policy and Health Services Research Articles

The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale population structure of descendants of the African Diaspora remains largely uncharacterized. Here we present genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial sex-biased European gene flow …

Biallelic Mutations In Tbcd, Encoding The Tubulin Folding Cofactor D, Perturb Microtubule Dynamics And Cause Early-Onset Encephalopathy., Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptist Lepichon, Emily G. Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, Marco Tartaglia

Manuscripts, Articles, Book Chapters and Other Papers

Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental and neurodegenerative disorders. Growing evidence suggests that altered microtubule dynamics may also underlie or contribute to neurodevelopmental disorders and neurodegeneration. We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the αβ-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin …

Cumulative Fluid Balance And Mortality In Septic Patients With Or Without Acute Kidney Injury And Chronic Kidney Disease, Javier A. Neyra, Xilong Li, Fabrizio Canepa-Escaro, Beverley Adams-Huet, Robert D. Toto, Jerry Yee, S S. Hedayati

Nephrology Articles

OBJECTIVE: Incident acute kidney injury and prevalent chronic kidney disease are commonly encountered in septic patients. We examined the differential effect of acute kidney injury and chronic kidney disease on the association between cumulative fluid balance and hospital mortality in critically ill septic patients.

DESIGN: Retrospective cohort study.

SETTING: Urban academic medical center ICU.

PATIENTS: ICU adult patients with severe sepsis or septic shock and serum creatinine measured within 3 months prior to and 72 hours of ICU admission. Patients with estimated glomerular filtration rate less than 15 mL/min/1.73 m or receiving chronic dialysis were excluded.

INTERVENTIONS: None.

MEASUREMENTS AND …

Long-Term Follow-Up Study Of Temporary Tricuspid Valve Detachment As Approach To Vsd Repair Without Consequent Tricuspid Dysfunction, Gianluca Lucchese, Lucia Rossetti, Giuseppe Faggian, Giovanni B Luciani

The Texas Heart Institute Journal

Temporary tricuspid valve detachment improves the operative view of certain congenital ventricular septal defects (VSDs), but its long-term effects on tricuspid valve function are still debated.

From 2002 through 2012, we performed a prospective study of 68 children (mean age, 1.28 ± 1.01 yr) who underwent transatrial closure of VSDs following temporary tricuspid valve detachment. Sixty patients had conoventricular and 8 had mid-muscular VSDs. All were in sinus rhythm. Seventeen patients had systemic pulmonary artery pressures. Preoperative echocardiograms showed trivial-to-mild tricuspid regurgitation in 62 patients and tricuspid dysplasia with severe regurgitation in 6 patients. Patients were clinically and echocardiographically monitored …

Early Cumulative Supplemental Oxygen Predicts Bronchopulmonary Dysplasia In High Risk Extremely Low Gestational Age Newborns., Katherine C. Wai, Michael A. Kohn, Roberta A. Ballard, William E. Truog, Dennis M. Black, Jeanette M. Asselin, Philip L. Ballard, Elizabeth E. Rogers, Roberta L. Keller, Trial Of Late Surfactant (Tolsurf) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess the prognostic accuracy of early cumulative supplemental oxygen (CSO) exposure for prediction of bronchopulmonary dysplasia (BPD) or death, and to evaluate the independent association of CSO with BPD or death.

STUDY DESIGN: We performed a secondary analysis of the Trial of Late Surfactant, which enrolled 511 infants born at ≤28 weeks gestational age who were mechanically ventilated at 7-14 days of life. Our primary outcome was BPD or death at 36 weeks postmenstrual age, as determined by a physiological oxygen/flow challenge. Average daily supplemental oxygen (fraction of inspired oxygen - 0.21) was calculated. CSO was calculated as …

The Influence Of Televised Food Commercials On Children's Food Choices: Evidence From Ventromedial Prefrontal Cortex Activations., Amanda S. Bruce, Stephen W. Pruitt, Oh-Ryeong Ha, J Bradley C Cherry, Timothy R. Smith, Jared M. Bruce, Seung-Lark Lim

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To investigate how food commercials influence children's food choices.

STUDY DESIGN: Twenty-three children ages 8-14 years provided taste and health ratings for 60 food items. Subsequently, these children were scanned with the use of functional magnetic resonance imaging while making food choices (ie, "eat" or "not eat") after watching food and nonfood television commercials.

RESULTS: Our results show that watching food commercials changes the way children consider the importance of taste when making food choices. Children did not use health values for their food choices, indicating children's decisions were largely driven by hedonic, immediate rewards (ie, "tastiness"); however, children …