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2020

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Articles 181 - 210 of 4794

Full-Text Articles in Medical Specialties

An Artificial Intelligence-Based, Personalized Smartphone App To Improve Childhood Immunization Coverage And Timelines Among Children In Pakistan: Protocol For A Randomized Controlled Trial, Abdul Momin Kazi, Saad Ahmed Qazi, Sadori Khawaja, Nazia Ahsan, Rao Moueed Ahmed, Muhammad Ayub Khan Mughal, Hussain Kalimuddin, Yasir Rauf, Mehreen Raza, Saima Jamal Dec 2020

An Artificial Intelligence-Based, Personalized Smartphone App To Improve Childhood Immunization Coverage And Timelines Among Children In Pakistan: Protocol For A Randomized Controlled Trial, Abdul Momin Kazi, Saad Ahmed Qazi, Sadori Khawaja, Nazia Ahsan, Rao Moueed Ahmed, Muhammad Ayub Khan Mughal, Hussain Kalimuddin, Yasir Rauf, Mehreen Raza, Saima Jamal

Department of Paediatrics and Child Health

Background: The immunization uptake rates in Pakistan are much lower than desired. Major reasons include lack of awareness, parental forgetfulness regarding schedules, and misinformation regarding vaccines. In light of the COVID-19 pandemic and distancing measures, routine childhood immunization (RCI) coverage has been adversely affected, as caregivers avoid tertiary care hospitals or primary health centers. Innovative and cost-effective measures must be taken to understand and deal with the issue of low immunization rates. However, only a few smartphone-based interventions have been carried out in low- and middle-income countries (LMICs) to improve RCI.
Objective: The primary objectives of this study are to …


A 10-Year-Old With Frequent, Disruptive, And Unexplained Night Awakenings, Sameh S. Morkous Md, Faan Dec 2020

A 10-Year-Old With Frequent, Disruptive, And Unexplained Night Awakenings, Sameh S. Morkous Md, Faan

Department of Pediatrics

A 10-year-old female presented to the sleep clinic for a second opinion about her epilepsy diagnosis. She had been treated with antiepileptic medication but her events persisted. The child would wake up several times every night speaking nonsense words, appear confused to her family, and then go back to sleep. A video of the polysomnography (PSG) showed the patient having two of her typical events. The patient was eventually diagnosed with confusional arousal (CoA) secondary to obstructive sleep apnea (OSA). The nocturnal events resolved after her OSA was treated. This case highlights an atypical clinical presentation for a type of …


Genetic And Epigenetic Determinants Of Diffuse Large B-Cell Lymphoma, Tanner Bakhshi, Philippe T. Georgel Dec 2020

Genetic And Epigenetic Determinants Of Diffuse Large B-Cell Lymphoma, Tanner Bakhshi, Philippe T. Georgel

Biomedical Sciences

Diffuse large B-cell lymphoma (DLBCL) is the most common type of lymphoma and is notorious for its heterogeneity, aggressive nature, and the frequent development of resistance and/or relapse after treatment with standard chemotherapy. To address these problems, a strong emphasis has been placed on researching the molecular origins and mechanisms of DLBCL to develop effective treatments. One of the major insights produced by such research is that DLBCL almost always stems from genetic damage that occurs during the germinal center (GC) reaction, which is required for the production of high-affinity antibodies. Indeed, there is significant overlap between the mechanisms that …


Effect Of Intrauterine Smoke Exposure On Microrna-15a Expression In Human Lung Development And Subsequent Asthma Risk., Sunita Sharma, Alvin T. Kho, Divya Chhabra, Kathleen Haley, Carrie A. Vyhlidal, R Gaedigk, J Steven Leeder, Kelan G. Tantisira, Benjamin Raby, Scott T. Weiss Dec 2020

Effect Of Intrauterine Smoke Exposure On Microrna-15a Expression In Human Lung Development And Subsequent Asthma Risk., Sunita Sharma, Alvin T. Kho, Divya Chhabra, Kathleen Haley, Carrie A. Vyhlidal, R Gaedigk, J Steven Leeder, Kelan G. Tantisira, Benjamin Raby, Scott T. Weiss

Manuscripts, Articles, Book Chapters and Other Papers

Background: In utero smoke (IUS) exposure is associated with asthma susceptibility.

Objective: We sought to test the hypothesis that changes in miRNA expression by IUS exposure during human lung development is associated with asthma susceptibility.

Methods: Gene expression was profiled from 53 IUS unexposed and 51 IUS exposed human fetal lung tissues. We tested for the differential expression of miRNAs across post-conception age and by IUS using linear models with covariate adjustment. We tested the IUS-associated miRNAs for association with their gene expression targets using pair-wise inverse correlation. Using our mouse model, we investigated the persistence of the IUS-associated miRNA …


Cellphone Laws And Teens' Calling While Driving: Analysis Of Repeated Cross-Sectional Surveys In 2013, 2015, 2017, And 2019, Li Li, Caitlin N. Pope, Rebecca R. Andridge, Julie K. Bower, Guoqing Hu, Motao Zhu Dec 2020

Cellphone Laws And Teens' Calling While Driving: Analysis Of Repeated Cross-Sectional Surveys In 2013, 2015, 2017, And 2019, Li Li, Caitlin N. Pope, Rebecca R. Andridge, Julie K. Bower, Guoqing Hu, Motao Zhu

Graduate Center for Gerontology Faculty Publications

BACKGROUND: Distracted driving among teens is a public health and safety concern. Most states in the U.S. have sought to restrict cellphone use while driving by enacting laws. This study examines the difference in prevalence of self-reported calling while driving (CWD) between states with different cellphone bans.

METHODS: Demographics and CWD data were extracted from state Youth Risk Behavior Surveys (YRBS) from 14 states in 2013, 2015, 2017, and 2019. The state YRBS is conducted every 2 years with a representative sample of 9th through 12th grade students attending public school. States were grouped by type of cellphone law(s): no …


Increasing Nurse Knowledge Using A Formal Lung Transplant Education Program, Amy M. Stoddard, Donna Lynch-Smith, Kate Carlson Wrammert, Bobby Bellflower Dec 2020

Increasing Nurse Knowledge Using A Formal Lung Transplant Education Program, Amy M. Stoddard, Donna Lynch-Smith, Kate Carlson Wrammert, Bobby Bellflower

Doctor of Nursing Practice Projects

This quality improvement project was completed to show that a formal lung transplant education course for nurses caring for lung transplant patients increased their knowledge. An eight-hour education course was developed by experts in the field of lung transplantation. A pretest was administered before the education course. A posttest was administered to determine if knowledge was improved. A three-month follow-up test was administered to determine knowledge retention. Based on the data analysis, nurse knowledge improved after formal education. Item analysis determined what areas of educational content need to be the focus of quarterly education. The education course was adopted as …


Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color, Dylan Taylor Dec 2020

Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color, Dylan Taylor

Senior Honors Theses

Color blindness affects nearly 10% of the entire population, with multiple types of color blindness from various genetic mutations. In the following sections, the nature of light and how the human eye perceives light will be discussed. Afterward, the major forms of color blindness and their genetic causes will be considered. Once these genetic causes have been established, the current method for diagnosing color blindness will be investigated, followed by a discussion of the current treatments available to those with color blindness. Finally, a brief discussion will address possible future work for color blindness with the hope of finding better …


Residency Recruitment: Changes And Challenges, Karen A. Chojnacki, Md, Facs Dec 2020

Residency Recruitment: Changes And Challenges, Karen A. Chojnacki, Md, Facs

Department of Surgery Presentations and Grand Rounds

No abstract provided.


The Effect Of Area Deprivation On Covid-19 Risk In Louisiana, Madhav Kc, Evrim Oral, Susanne Straif-Bourgeois, Ariane L. Rung, Edward S. Peters Dec 2020

The Effect Of Area Deprivation On Covid-19 Risk In Louisiana, Madhav Kc, Evrim Oral, Susanne Straif-Bourgeois, Ariane L. Rung, Edward S. Peters

School of Public Health Faculty Publications

Background Louisiana in the summer of 2020 had the highest per capita case count for COVID-19 in the United States and COVID-19 deaths disproportionately affects the African American population. Neighborhood deprivation has been observed to be associated with poorer health outcomes. The purpose of this study was to examine the relationship between neighborhood deprivation and COVID-19 in Louisiana. Methods The Area Deprivation Index (ADI) was calculated and used to classify neighborhood deprivation at the census tract level. A total of 17 US census variables were used to calculate the ADI for each of the 1148 census tracts in Louisiana. The …


Association Between Medicaid Expansion Status And Lung Cancer Screening Exam Growth: Findings From The Acr Lung Cancer Registry., Neal Gupta, Ethan J. Halpern, Vijay M. Rao Dec 2020

Association Between Medicaid Expansion Status And Lung Cancer Screening Exam Growth: Findings From The Acr Lung Cancer Registry., Neal Gupta, Ethan J. Halpern, Vijay M. Rao

Department of Radiology Faculty Papers

PURPOSE: To determine if Medicaid expansion is associated with increased volumes of lung cancer screenings.

METHODS: A quasi-experimental study was performed to compare the annual growth rates in lung cancer screenings between states that expanded Medicaid (n = 31) versus those that did not (n = 17). Using the American College of Radiology Lung Cancer Screening Registry, we calculated the average annual growth rate between 2016 and 2019 for both groups. Secondary analyses between these two groups also included calculations of the percentages of studies considered appropriate by USPSTF criteria.

RESULTS: No significant difference was identified in the average annual …


Dimensions Of Misinformation About The Hpv Vaccine On Instagram: Content And Network Analysis Of Social Media Characteristics., Philip M. Massey, Matthew D. Kearney, Michael K. Hauer, Preethi Selvan, Emmanuel Koku, Amy Leader Dec 2020

Dimensions Of Misinformation About The Hpv Vaccine On Instagram: Content And Network Analysis Of Social Media Characteristics., Philip M. Massey, Matthew D. Kearney, Michael K. Hauer, Preethi Selvan, Emmanuel Koku, Amy Leader

Department of Medical Oncology Faculty Papers

BACKGROUND: The human papillomavirus (HPV) vaccine is a major advancement in cancer prevention and this primary prevention tool has the potential to reduce and eliminate HPV-associated cancers; however, the safety and efficacy of vaccines in general and the HPV vaccine specifically have come under attack, particularly through the spread of misinformation on social media. The popular social media platform Instagram represents a significant source of exposure to health (mis)information; 1 in 3 US adults use Instagram.

OBJECTIVE: The objective of this analysis was to characterize pro- and anti-HPV vaccine networks on Instagram, and to describe misinformation within the anti-HPV vaccine …


Risk Of Mechanical Thrombectomy Recanalization Failure: Intraoperative Nuances And The Role Of Intracranial Atherosclerotic Disease, Joshua H. Weinberg, Ahmad Sweid, Ashlee Asada, Rawad Abbas, Keenan Piper, Daniel Joffe, Michael Reid Gooch, Stavropoula Tjoumakaris, Pascal Jabbour, Robert H. Rosenwasswer, Hekmat Zarzour Dec 2020

Risk Of Mechanical Thrombectomy Recanalization Failure: Intraoperative Nuances And The Role Of Intracranial Atherosclerotic Disease, Joshua H. Weinberg, Ahmad Sweid, Ashlee Asada, Rawad Abbas, Keenan Piper, Daniel Joffe, Michael Reid Gooch, Stavropoula Tjoumakaris, Pascal Jabbour, Robert H. Rosenwasswer, Hekmat Zarzour

Department of Neurosurgery Faculty Papers

Objective: To present intraoperative observations that when recognized may facilitate the identification of patients at high risk of MT recanalization failure. We illustrate 4 cases of successful recanalization via rescue treatment with balloon angioplasty and/or stenting when such observations were noted. We also discuss the role of intracranial atherosclerotic disease in recanalization failure.

Patients and methods: We conducted a retrospective review of a prospectively maintained database for 450 stroke patients and identified 122 patients who underwent MT that failed to achieve recanalization. Operative notes were reviewed, and intraoperative nuances were discussed amongst neurointerventionalists.

Results: Intraoperative observations that may suggest a …


Accuracy Of Psychiatrists' Assessment Of Medication Adherence In An Outpatient Setting., Katherine B. Martin Md Dec 2020

Accuracy Of Psychiatrists' Assessment Of Medication Adherence In An Outpatient Setting., Katherine B. Martin Md

Department of Psychiatry

BACKGROUND: Many patients have uncontrolled psychiatric symptoms because they are not taking their medication as prescribed. Psychiatrists may have difficulty accurately assessing medication adherence, which is important because it helps guide them in how they prescribe. If nonadherence is the cause of uncontrolled symptoms, then strategies to improve adherence are advised. However, if nonadherence is not the cause, then the usual course of action would be to intensify or modify the medication regimen. Knowing whether nonadherence is a factor at the time of an appointment could help guide clinical decision making in real-time.

METHODS: A cohort of established patients in …


Discordant Responses Between Primary Head And Neck Tumors And Nodal Metastases Treated With Neoadjuvant Nivolumab: Correlation Of Radiographic And Pathologic Treatment Effect., Dante J. Merlino, Jennifer M. Johnson, Madalina Tuluc, Stacey Gargano, Robert Stapp, Larry Harshyne, Benjamin E. Leiby, Adam Flanders, Ralph Zinner, Rita Axelrod, Joseph Curry, David M. Cognetti, Kyle Mannion, Young J. Kim, Ulrich Rodeck, Athanassios Argiris, Adam J. Luginbuhl Dec 2020

Discordant Responses Between Primary Head And Neck Tumors And Nodal Metastases Treated With Neoadjuvant Nivolumab: Correlation Of Radiographic And Pathologic Treatment Effect., Dante J. Merlino, Jennifer M. Johnson, Madalina Tuluc, Stacey Gargano, Robert Stapp, Larry Harshyne, Benjamin E. Leiby, Adam Flanders, Ralph Zinner, Rita Axelrod, Joseph Curry, David M. Cognetti, Kyle Mannion, Young J. Kim, Ulrich Rodeck, Athanassios Argiris, Adam J. Luginbuhl

Department of Medical Oncology Faculty Papers

PD-1 blockade represents a promising treatment in patients with head and neck squamous cell carcinoma (HNSCC). We analyzed results of a neoadjuvant randomized window-of-opportunity trial of nivolumab plus/minus tadalafil to investigate whether immunotherapy-mediated treatment effects vary by site of involvement (primary tumor, lymph nodes) and determine how radiographic tumor shrinkage correlates with pathologic treatment effect.

Patients and Methods: Forty-four patients enrolled in trial NCT03238365 were treated with nivolumab 240 mg intravenously on days 1 and 15 with or without oral tadalafil, as determined by random assignment, followed by surgery on day 31. Radiographic volumetric response (RVR) was defined as percent …


Clinically Relevant Interactions Between Atypical Antipsychotics And Anti-Infective Agents, Edoardo Spina, Maria Antonietta Barbieri, Giuseppe Cicala, Jose De Leon Dec 2020

Clinically Relevant Interactions Between Atypical Antipsychotics And Anti-Infective Agents, Edoardo Spina, Maria Antonietta Barbieri, Giuseppe Cicala, Jose De Leon

Psychiatry Faculty Publications

This is a comprehensive review of the literature on drug interactions (DIs) between atypical antipsychotics and anti-infective agents that focuses on those DIs with the potential to be clinically relevant and classifies them as pharmacokinetic (PK) or pharmacodynamic (PD) DIs. PubMed searches were conducted for each of the atypical antipsychotics and most commonly used anti-infective agents (13 atypical antipsychotics by 61 anti-infective agents/classes leading to 793 individual searches). Additional relevant articles were obtained from citations and from prior review articles written by the authors. Based on prior DI articles and our current understanding of PK and PD mechanism, we developed …


Case Series And Review Of Hematological And Non-Hematological Malignancies In Aging Patients With Sickle Cell Disease In The Hydroxyurea Era., Sanaa Rizk, David J. Axelrod, Rasaq Olaosebikan, Samir K. Ballas Dec 2020

Case Series And Review Of Hematological And Non-Hematological Malignancies In Aging Patients With Sickle Cell Disease In The Hydroxyurea Era., Sanaa Rizk, David J. Axelrod, Rasaq Olaosebikan, Samir K. Ballas

Cardeza Foundation for Hematologic Research

Survival of adult patients with sickle cell disease has increased progressively since the 1970s. Aging patients with sickle cell disease are at risk of developing comorbidities that are not due to sickle cell disease itself, including malignancies. Many studies tried to assess the incidence of malignancy in patients with sickle cell disease. However, no studies have been done to evaluate cancer incidences in aging sickle cell patients, especially in the hydroxyurea (HU) era. In this review, we assessed the prevalence of malignancies in aging patients with sickle cell disease at our institution with or without HU therapy. Retrospective analysis of …


Three Decades Of Research On Recombinant Collagens: Reinventing The Wheel Or Developing New Biomedical Products?, Andrzej Fertala Dec 2020

Three Decades Of Research On Recombinant Collagens: Reinventing The Wheel Or Developing New Biomedical Products?, Andrzej Fertala

Department of Orthopaedic Surgery Faculty Papers

Collagens provide the building blocks for diverse tissues and organs. Furthermore, these proteins act as signaling molecules that control cell behavior during organ development, growth, and repair. Their long half-life, mechanical strength, ability to assemble into fibrils and networks, biocompatibility, and abundance from readily available discarded animal tissues make collagens an attractive material in biomedicine, drug and food industries, and cosmetic products. About three decades ago, pioneering experiments led to recombinant human collagens' expression, thereby initiating studies on the potential use of these proteins as substitutes for the animal-derived collagens. Since then, scientists have utilized various systems to produce native-like …


Focal Cortical Dysplasia With Prolonged Ictal Asystole, A Case Report, Ahmad Wali, Fowzia Siddiqui Dec 2020

Focal Cortical Dysplasia With Prolonged Ictal Asystole, A Case Report, Ahmad Wali, Fowzia Siddiqui

Section of Neurology

Introduction: Cortical dysplasia carries significant morbidities such as seizures and delayed milestones. Focal cortical dysplasia (FCD) causes refractory epilepsy with various seizure types depending on the location and extent of the dysplasia. FCD in the temporal region and the insular cortex may cause ictal bradycardia (IB) and ictal asystole (IA). Video EEG (VEEG) with simultaneous EKG recording can better diagnose these cardiac abnormalities in FCD. We describe a case of refractory epilepsy. The patient's clinical seizures were usually followed by syncope. VEEG revealed frequent seizures some of which were associated with prolonged ictal asystole.
Results: A 15 years old female …


The Psychiatry Milestones 2.0: How Did We Get From 1.0 To 2.0 And What Can Users Expect?, Matthew Macaluso, Mark Kinzie, Deborah Cowley, Lillian J Houston, Sandra Dejong, Furhut Janssen, Adrienne Bentman, Laura Edgar, Brittany Campbell, Lynneice Bowen, Jeffery Aronowitz, Elie Aoun, Patcho Santiago, George Keepers Dec 2020

The Psychiatry Milestones 2.0: How Did We Get From 1.0 To 2.0 And What Can Users Expect?, Matthew Macaluso, Mark Kinzie, Deborah Cowley, Lillian J Houston, Sandra Dejong, Furhut Janssen, Adrienne Bentman, Laura Edgar, Brittany Campbell, Lynneice Bowen, Jeffery Aronowitz, Elie Aoun, Patcho Santiago, George Keepers

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Graduate medical education (GME) in psychiatry, like other medical specialties, has been transitioning to competency-based training and assessment. Competency-based medical education was born from a desire to certify physicians based on training outcomes, rather than training inputs such as the amount of time one spends in training [1]. The transition to a focus on training outcomes has been at least 25 years in the making


A Review Of Bleeding Risk With Impella-Supported High-Risk Percutaneous Coronary Intervention, George W. Vetrovec, Amir Kaki, Thom G. Dahle Dec 2020

A Review Of Bleeding Risk With Impella-Supported High-Risk Percutaneous Coronary Intervention, George W. Vetrovec, Amir Kaki, Thom G. Dahle

Articles

Complex, high-risk percutaneous coronary intervention (HR-PCI) is increasingly being performed, often with mechanical circulatory support (MCS), though to date, there are limited randomised data on the efficacy of MCS for HR-PCI. The majority of MCS is provided by intra-aortic balloon pumps, but increasingly Impella® (Abiomed, Danvers, MA, USA) heart pumps are being used. While the Impella pumps provide greater increases in cardiac output, these devices require large bore access, which has been associated with an increased risk of bleeding and vascular complications. Decisions regarding the use of Impella are often based on risk–benefit considerations, with Impella-related bleeding risk being a …


Low Cognitive Function Is Associated With Reduced Functional Fitness Among Community-Dwelling Older Adults, Michelle Gray, Joshua Gills, Jordan Glenn, Erica Madero, Aidan Hall, Nami Fuseya, Jennifer Vincenzo, Nick Bott Dec 2020

Low Cognitive Function Is Associated With Reduced Functional Fitness Among Community-Dwelling Older Adults, Michelle Gray, Joshua Gills, Jordan Glenn, Erica Madero, Aidan Hall, Nami Fuseya, Jennifer Vincenzo, Nick Bott

Health, Human Performance and Recreation Faculty Publications and Presentations

Among older adults over 70, 22-30% report difficulty performing at least one activity of daily living (ADL). While the precipitants of ADL decline are multifactorial, over 50% of cognitively impaired adults require assistance with ADLs. The exact relationship between cognitive and functional decline remains unknown, but it is important to understand their relationship. Eighty-three older adults (80.9 + 5.4 years) enrolled in this study and completed functional fitness and cognitive assessments. Functional fitness assessments included: Short Physical Performance Battery (SPPB), 10-meter walk, dual-task, and power chair stand (average and peak). Cognition was assessed using the Montreal Cognitive Assessment (MoCA) and …


Automated Office Blood Pressure Measurement For The Diagnosis Of Hypertension, Guido Filler, Maria E Díaz-González De Ferris Dec 2020

Automated Office Blood Pressure Measurement For The Diagnosis Of Hypertension, Guido Filler, Maria E Díaz-González De Ferris

Paediatrics Publications

Editorial


Parental Psychosocial Aspects And Stressors Involved In The Management Of Inborn Errors Of Metabolism., Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N Prasad, Akshya Vasudev, Andrew Mantulak, Beth K Potter, Chitra Prasad Dec 2020

Parental Psychosocial Aspects And Stressors Involved In The Management Of Inborn Errors Of Metabolism., Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N Prasad, Akshya Vasudev, Andrew Mantulak, Beth K Potter, Chitra Prasad

Paediatrics Publications

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-person interviews with ten parents to identify psychosocial stressors, strategies, and supports they utilized to overcome their challenges. Our interview guide was designed to elicit familial experiences during the pre- and post-diagnosis periods. The themes and sub-themes were identified through qualitative descriptive textual analysis of audio-recorded transcripts. Major themes identified include ambiguity of illness, changing family and spousal dynamics, and navigating the healthcare system. Sub-themes revolved around …


Survival Benefit For Individuals With Constitutional Mismatch Repair Deficiency Syndrome And Brain Tumors Who Undergo Surveillance Protocol. A Report From The International Replication Repair Consortium, Ayse Bahar Ercan, Carol Durno, Vanessa J. Bianchi, Melissa Edwards, Melyssa Aronson, Eric Bouffet, Abeer Al-Battashi, Musa Alharbi, Donald Basel, Elizabeth Cairney Dec 2020

Survival Benefit For Individuals With Constitutional Mismatch Repair Deficiency Syndrome And Brain Tumors Who Undergo Surveillance Protocol. A Report From The International Replication Repair Consortium, Ayse Bahar Ercan, Carol Durno, Vanessa J. Bianchi, Melissa Edwards, Melyssa Aronson, Eric Bouffet, Abeer Al-Battashi, Musa Alharbi, Donald Basel, Elizabeth Cairney

Paediatrics Publications

BACKGROUND

Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has systematically evaluated the efficacy of this protocol. METHODS

We surveyed all confirmed CMMRD patients in the International Replication Repair Deficiency Consortium. A surveillance protocol consisting of frequent biochemical, endoscopic and imaging (CNS and total body MRI) studies were employed. Survival analyses and efficacy of each method were assessed. RESULTS

Surveillance data were collected from 105 CMMRD individuals from 41 countries. Of the 193 malignant tumors, CNS malignancies …


Frameshift Mutations At The C-Terminus Of Hist1h1e Result In A Specific Dna Hypomethylation Signature, A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L Ruivenkamp, G.W.E. Santen, E.K. Bijlsma, D.Q.C.M. Barge-Schaapveld, K. Ounap, V. Mok Siu, F. F. Kooy, B. Dallapiccola, B. Sadikovic, M. Tartaglia Dec 2020

Frameshift Mutations At The C-Terminus Of Hist1h1e Result In A Specific Dna Hypomethylation Signature, A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L Ruivenkamp, G.W.E. Santen, E.K. Bijlsma, D.Q.C.M. Barge-Schaapveld, K. Ounap, V. Mok Siu, F. F. Kooy, B. Dallapiccola, B. Sadikovic, M. Tartaglia

Paediatrics Publications

No abstract provided.


Isolated Sulfite Oxidase Deficiency: A Founder Mutation., Aizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, Ronald Agatep, Reena Ray Sisk, Chitra Prasad Dec 2020

Isolated Sulfite Oxidase Deficiency: A Founder Mutation., Aizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, Ronald Agatep, Reena Ray Sisk, Chitra Prasad

Paediatrics Publications

Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and


Five-Month-Old Male With Chronic Diarrhea., Hailey C Barootes, Erin R Peebles, Dhandapani Ashok, Suzanne Ratko, Andrea C Yu Dec 2020

Five-Month-Old Male With Chronic Diarrhea., Hailey C Barootes, Erin R Peebles, Dhandapani Ashok, Suzanne Ratko, Andrea C Yu

Paediatrics Publications

No abstract provided.


Lactate Preconditioning Promotes A Hif-1Α-Mediated Metabolic Shift From Oxphos To Glycolysis In Normal Human Diploid Fibroblasts, Alexandra M. Kozlov, Asad Lone, Dean H. Betts, Robert C. Cumming Dec 2020

Lactate Preconditioning Promotes A Hif-1Α-Mediated Metabolic Shift From Oxphos To Glycolysis In Normal Human Diploid Fibroblasts, Alexandra M. Kozlov, Asad Lone, Dean H. Betts, Robert C. Cumming

Paediatrics Publications

Recent evidence has emerged that cancer cells can use various metabolites as fuel sources. Restricting cultured cancer cells to sole metabolite fuel sources can promote metabolic changes leading to enhanced glycolysis or mitochondrial OXPHOS. However, the efect of metabolite-restriction on non-transformed cells remains largely unexplored. Here we examined the efect of restricting media fuel sources, including glucose, pyruvate or lactate, on the metabolic state of cultured human dermal fbroblasts. Fibroblasts cultured in lactate-only medium exhibited reduced PDH phosphorylation, indicative of OXPHOS, and a concurrent elevation of ROS. Lactate exposure primed fbroblasts to switch to glycolysis by increasing transcript abundance of …


Machine Learning Identifies Clinical And Genetic Factors Associated With Anthracycline Cardiotoxicity In Pediatric Cancer Survivors, Marie-A Chaix, Neha Parmar, Caroline Kinnear, Myriam Lafreniere-Roula,, Oyediran Akinrinade, Roderick Yao, Anastasia Miron, Emily Lam, Guoliang Meng, Anne Christie, Ashok Kumar Manickaraj, Stacey Marjerrison, Rejane Dillenburg, Mylène Bassal, Jane Lougheed, Shayna Zelcer, Herschel Rosenberg, David Hodgson, Leonard Sender, Paul Kantor, Cedric Manlhiot, James Ellis, Luc Mertens, Paul C. Nathan, Seema Mital Dec 2020

Machine Learning Identifies Clinical And Genetic Factors Associated With Anthracycline Cardiotoxicity In Pediatric Cancer Survivors, Marie-A Chaix, Neha Parmar, Caroline Kinnear, Myriam Lafreniere-Roula,, Oyediran Akinrinade, Roderick Yao, Anastasia Miron, Emily Lam, Guoliang Meng, Anne Christie, Ashok Kumar Manickaraj, Stacey Marjerrison, Rejane Dillenburg, Mylène Bassal, Jane Lougheed, Shayna Zelcer, Herschel Rosenberg, David Hodgson, Leonard Sender, Paul Kantor, Cedric Manlhiot, James Ellis, Luc Mertens, Paul C. Nathan, Seema Mital

Paediatrics Publications

BACKGROUND Despite known clinical risk factors, predicting anthracycline cardiotoxicity remains challenging. OBJECTIVES This study sought to develop a clinical and genetic risk prediction model for anthracycline cardiotoxicity in childhood cancer survivors. METHODS We performed exome sequencing in 289 childhood cancer survivors at least 3 years from anthracycline exposure. In a nested case-control design, 183 case patients with reduced left ventricular ejection fraction despite low-dose doxorubicin (<= 250 mg/m(2)), and 106 control patients with preserved left ventricular ejection fraction despite doxorubicin >250 mg/m(2) were selected as extreme phenotypes. Rare/low-frequency variants were collapsed to identify genes differentially enriched for variants between case patients and control patients. The expression levels of 5 top-ranked genes were evaluated in …


Using Collaborative Objective Simulation Clinical Evaluation With Undergraduate Nursing Students And Nurse Anesthesia Students Labor Epidural Placement In An Active Labor Patient, Chaka K. Jackson, Aisha Pierre Dec 2020

Using Collaborative Objective Simulation Clinical Evaluation With Undergraduate Nursing Students And Nurse Anesthesia Students Labor Epidural Placement In An Active Labor Patient, Chaka K. Jackson, Aisha Pierre

Doctoral Projects

Developing interdisciplinary teamwork and patient communication skills are essential for the student registered nurse anesthetist (SRNA) to provide quality patient care when administering epidural anesthesia. The synthesis of the evidence revealed limited available information on simulation use for SRNA epidural administration and collaboration. This doctoral project examined the effectiveness of learning through traditional simulation to enhance communication and collaboration between the Bachelor of Science in Nursing (BSN) and the Nurse Anesthesia Program (NAP) students. The BSN and NAP students were provided with a simulation environment to care for a laboring patient while improving patient safety and quality outcomes. The project …