Medical Specialties Commons^™

Conditional Metastasis Of Uveal Melanoma In 8091 Patients Over Half-Century (51 Years) By Age Group: Assessing The Entire Population And The Extremes Of Age, Carol L. Shields, Annika Samuelson, Glenn Oh, Joseph D. Desimone, Zaynab Sajjadi, Zeynep Bas, Nicholas E Kalafatis, Sara E. Lally, Jerry A. Shields, Philip W. Dockery

Wills Eye Hospital Papers

PURPOSE: To evaluate cumulative incidence of metastasis at specific timepoints after treatment of uveal melanoma in a large cohort of patients and to provide comparison of conditional outcomes in the youngest and oldest cohorts (extremes of age).

METHODS: Retrospective analysis of 8091 consecutive patients with uveal melanoma at a single center over a 51-year period. The patients were categorized by age at presentation (0-29 years [n = 348, 4%], 30-59 years [n = 3859, 48%], 60-79 years [n = 3425, 42%], 80 to 99 years [n = 459, 6%]) and evaluated for nonconditional (from presentation date) and conditional (from specific …

Reasons Patients Cite To Their Health-Care Professional For Not Initiating Or Completing Human Papillomavirus Vaccination, Onyema Greg Chido-Amajuoyi, Ikponmwosa Osaghae, Sanjay Shete

Faculty, Staff and Student Publications

BACKGROUND: Vaccination against human papillomavirus (HPV) is critical to the prevention of HPV-associated cancers. This study aimed to describe the reasons patients cited for not initiating or completing the HPV vaccination series, as reported by health-care professionals.

METHODS: Study data were obtained from a University of Texas MD Anderson Cancer Center population-based cross-sectional survey of health-care professionals practicing in Texas. Prevalence estimates of reasons cited for not initiating or completing HPV vaccination were estimated by patient population (parents of children and adult patients).

RESULTS: The study included 973 primary care clinicians, of whom 45.53% were physicians and 54.47% were midlevel …

Prognostic And Predictive Value Of Endothelial Dysfunction Biomarkers In Sepsis-Associated Acute Kidney Injury: Risk-Stratified Analysis From A Prospective Observational Cohort Of Pediatric Septic Shock., Mihir R. Atreya, Natalie Z. Cvijanovich, Julie C. Fitzgerald, Scott L. Weiss, Michael T. Bigham, Parag N. Jain, Adam J. Schwarz, Riad Lutfi, Jeffrey Nowak, Geoffrey L. Allen, Neal J. Thomas, Jocelyn R. Grunwell, Torrey Baines, Michael Quasney, Bereketeab Haileselassie, Matthew N. Alder, Stuart L. Goldstein, Natalja L. Stanski

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Sepsis-associated acute kidney injury (SA-AKI) is associated with high morbidity, with no current therapies available beyond continuous renal replacement therapy (CRRT). Systemic inflammation and endothelial dysfunction are key drivers of SA-AKI. We sought to measure differences between endothelial dysfunction markers among children with and without SA-AKI, test whether this association varied across inflammatory biomarker-based risk strata, and develop prediction models to identify those at highest risk of SA-AKI.

METHODS: Secondary analyses of prospective observational cohort of pediatric septic shock. Primary outcome of interest was the presence of ≥ Stage II KDIGO SA-AKI on day 3 based on serum creatinine …

Association Of Circulating Tumor Dna Testing Before Tissue Diagnosis With Time To Treatment Among Patients With Suspected Advanced Lung Cancer: The Accelerate Nonrandomized Clinical Trial, Miguel García-Pardo, Kasia Czarnecka-Kujawa, Jennifer H Law, Alexandra M Salvarrey, Roxanne Fernandes, Zhen J Fan, Thomas K Waddell, Kazuhiro Yasufuku, Geoffrey Liu, Laura L Donahoe, Andrew Pierre, Lisa W Le, Tharsiga Gunasegaran, Noor Ghumman, Frances A Shepherd, Penelope A Bradbury, Adrian G Sacher, Sabine Schmid, Lucy Corke, Jamie Feng, Tracy Stockley, Prodipto Pal, Patrik Rogalla, Christodoulos Pipinikas, Karen Howarth, Bana Ambasager, Laura Mezquita, Ming S Tsao, Natasha B Leighl

Faculty, Staff and Student Publications

IMPORTANCE: Liquid biopsy has emerged as a complement to tumor tissue profiling for advanced non-small cell lung cancer (NSCLC). The optimal way to integrate liquid biopsy into the diagnostic algorithm for patients with newly diagnosed advanced NSCLC remains unclear.

OBJECTIVE: To evaluate the use of circulating tumor DNA (ctDNA) genotyping before tissue diagnosis among patients with suspected advanced NSCLC and its association with time to treatment.

DESIGN, SETTING, AND PARTICIPANTS: This single-group nonrandomized clinical trial was conducted among 150 patients at the Princess Margaret Cancer Centre-University Health Network (Toronto, Ontario, Canada) between July 1, 2021, and November 30, 2022. Patients …

Clinical And Demographic Factors Associated With Covid-19, Severe Covid-19, And Sars-Cov-2 Infection In Adults: A Secondary Cross-Protocol Analysis Of 4 Randomized Clinical Trials, Deborah A Theodore, Angela R Branche, Lily Zhang, Daniel S Graciaa, Madhu Choudhary, Timothy J Hatlen, Raadhiya Osman, Tara M Babu, Samuel T Robinson, Peter B Gilbert, Dean Follmann, Holly Janes, James G Kublin, Lindsey R Baden, Paul Goepfert, Glenda E Gray, Beatriz Grinsztejn, Karen L Kotloff, Cynthia L Gay, Brett Leav, Jacqueline Miller, Ian Hirsch, Jerald Sadoff, Lisa M Dunkle, Kathleen M Neuzil, Lawrence Corey, Ann R Falsey, Hana M El Sahly, Magdalena E Sobieszczyk, Yunda Huang

Faculty, Staff and Student Publications

IMPORTANCE: Current data identifying COVID-19 risk factors lack standardized outcomes and insufficiently control for confounders.

OBJECTIVE: To identify risk factors associated with COVID-19, severe COVID-19, and SARS-CoV-2 infection.

DESIGN, SETTING, AND PARTICIPANTS: This secondary cross-protocol analysis included 4 multicenter, international, randomized, blinded, placebo-controlled, COVID-19 vaccine efficacy trials with harmonized protocols established by the COVID-19 Prevention Network. Individual-level data from participants randomized to receive placebo within each trial were combined and analyzed. Enrollment began July 2020 and the last data cutoff was in July 2021. Participants included adults in stable health, at risk for SARS-CoV-2, and assigned to the placebo group …

Loss Of The Batten Disease Protein Cln3 Leads To Mis-Trafficking Of M6pr And Defective Autophagic-Lysosomal Reformation, Alessia Calcagni', Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio

Duncan NRI Faculty and Staff Publications

Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular trafficking hub connecting the Golgi and lysosome compartments. Proteomic analysis reveals that CLN3 interacts with several endo-lysosomal trafficking proteins, including the cation-independent mannose 6 phosphate receptor (CI-M6PR), which coordinates the targeting of lysosomal enzymes to lysosomes. CLN3 depletion results in mis-trafficking of CI-M6PR, mis-sorting of lysosomal enzymes, and defective autophagic lysosomal reformation. Conversely, CLN3 overexpression promotes the formation of multiple lysosomal tubules, which are autophagy and CI-M6PR-dependent, generating newly formed proto-lysosomes. Together, our …

Association Between Historical Neighborhood Redlining And Cardiovascular Outcomes Among Us Veterans With Atherosclerotic Cardiovascular Diseases, Salil V Deo, Issam Motairek, Khurram Nasir, Amgad Mentias, Yakov Elgudin, Salim S Virani, Sanjay Rajagopalan, Sadeer Al-Kindi

Faculty, Staff and Students Publications

Importance: In the 1930s, the government-sponsored Home Owners' Loan Corporation (HOLC) established maps of US neighborhoods that identified mortgage risk (grade A [green] characterizing lowest-risk neighborhoods in the US through mechanisms that transcend traditional risk factors to grade D [red] characterizing highest risk). This practice led to disinvestments and segregation in neighborhoods considered redlined. Very few studies have targeted whether there is an association between redlining and cardiovascular disease.

Objective: To evaluate whether redlining is associated with adverse cardiovascular outcomes in US veterans.

Design, setting, and participants: In this longitudinal cohort study, US veterans were followed up (January 1, 2016, …

Baseline Features And Reasons For Nonparticipation In The Colonoscopy Versus Fecal Immunochemical Test In Reducing Mortality From Colorectal Cancer (Confirm) Study, A Colorectal Cancer Screening Trial, Douglas J Robertson, Jason A Dominitz, Alexander Beed, Kathy D Boardman, Barbara J Del Curto, Peter D Guarino, Thomas F Imperiale, Andrew Lacasse, Meaghan F Larson, Samir Gupta, David Lieberman, Beata Planeta, Aasma Shaukat, Shanaz Sultan, Stacy B Menees, Sameer D Saini, Philip Schoenfeld, Stephan Goebel, Erik C Von Rosenvinge, Gyorgy Baffy, Ildiko Halasz, Marcos C Pedrosa, Lyn Sue Kahng, Riaz Cassim, Katarina B Greer, Margaret F Kinnard, Divya B Bhatt, Kerry B Dunbar, William V Harford, John A Mengshol, Jed E Olson, Swati G Patel, Fadi Antaki, Deborah A Fisher, Brian A Sullivan, Christopher Lenza, Devang N Prajapati, Helen Wong, Rebecca Beyth, John G Lieb, Joseph Manlolo, Fernando V Ona, Rhonda A Cole, Natalia Khalaf, Charles J Kahi, Divyanshoo Rai Kohli, Tarun Rai, Prateek Sharma, Jiannis Anastasiou, Curt Hagedorn, Ronald S Fernando, Christian S Jackson, M Mazen Jamal, Robert H Lee, Farrukh Merchant, Folasade P May, Joseph R Pisegna, Endashaw Omer, Dipendra Parajuli, Adnan Said, Toan D Nguyen, Claudio Ruben Tombazzi, Paul A Feldman, Leslie Jacob, Rachel N Koppelman, Kyle P Lehenbauer, Deepak S Desai, Mohammad F Madhoun, William M Tierney, Minh Q Ho, Heather J Hockman, Christopher Lopez, Emily Carter Paulson, Martin Tobi, Hugo L Pinillos, Michele Young, Nancy C Ho, Ranjan Mascarenhas, Kirrichai Promrat, Pritesh R Mutha, William M Pandak, Tilak Shah, Mitchell Schubert, Frank S Pancotto, Andrew J Gawron, Amelia E Underwood, Samuel B Ho, Priscilla Magno-Pagatzaurtundua, Doris H Toro, Charles H Beymer, Andrew M Kaz, Jill Elwing, Jeffrey A Gill, Susan F Goldsmith, Michael D Yao, Petr Protiva, Heiko Pohl, Tassos Kyriakides

Faculty, Staff and Student Publications

IMPORTANCE: The Colonoscopy Versus Fecal Immunochemical Test in Reducing Mortality From Colorectal Cancer (CONFIRM) randomized clinical trial sought to recruit 50 000 adults into a study comparing colorectal cancer (CRC) mortality outcomes after randomization to either an annual fecal immunochemical test (FIT) or colonoscopy.

OBJECTIVE: To (1) describe study participant characteristics and (2) examine who declined participation because of a preference for colonoscopy or stool testing (ie, fecal occult blood test [FOBT]/FIT) and assess that preference's association with geographic and temporal factors.

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study within CONFIRM, which completed enrollment through 46 Department of Veterans Affairs …

Circular Rna As Therapeutic Targets In Atherosclerosis: Are We Running In Circles?, Jeffrey Triska, Christo Mathew, Yang Zhao, Yuqing E Chen, Yochai Birnbaum

Faculty, Staff and Students Publications

Much attention has been paid lately to harnessing the diagnostic and therapeutic potential of non-coding circular ribonucleic acids (circRNAs) and micro-RNAs (miRNAs) for the prevention and treatment of cardiovascular diseases. The genetic environment that contributes to atherosclerosis pathophysiology is immensely complex. Any potential therapeutic application of circRNAs must be assessed for risks, benefits, and off-target effects in both the short and long term. A search of the online PubMed database for publications related to circRNA and atherosclerosis from 2016 to 2022 was conducted. These studies were reviewed for their design, including methods for developing atherosclerosis and the effects of the …

Supporting Motor, Cognitive, And Psychosocial Functions For Children And Youth With Acquired Brain Injury: A Scoping Review, Quandra Shanks, Angela Labrie Blackwell

Summer 2023 Virtual OTD Capstone Symposium

Acquired brain injury (ABI) refers to an injury to the brain that is not hereditary, congenital, degenerative, or induced by birth trauma (Brain Injury Association [BIA], 2023). ABI is an umbrella term for all brain injuries, typically classified as traumatic (e.g., sports injury, fall) or non-traumatic (e.g., stroke, infection) (Wales et al., 2021). It is considered one of the leading causes of death and disability for individuals of all ages (Riccardi & Lundine, 2022). The BIA (2023) reports that ages 0-4 and 15-19 are at greater risk for brain injury. The severity of ABI among pediatrics is more severe than …

Development Of An Occupation-Based Program For Hispanic Women With Breast Cancer, Tara Licon, Leslie Khan-Farooqi, Mary Ann Smith

Summer 2023 Virtual OTD Capstone Symposium

Currently, available programs for breast cancer patients do not consider the specific needs of Hispanic women or their preferred occupations. The goal of the capstone project was to develop an occupational therapy (OT) program that is personalized to Hispanic women with breast cancer at every stage of their recovery. The program was informed by lifestyle redesign. After reviewing the literature and conducting a needs assessment the capstone student created a program titled ‘Beautiful, Bold, Breast Cancer’ which contains five detailed treatment sessions.

Effectiveness Of An Electronic Health Record Embedded Evidence-Based Testing Algorithm For Clostridioides Difficile Infection., Sarah Marie Bishop

Doctor of Nursing Practice Papers

Background: Clostridioides difficile infection (CDI) commonly impacts hospitalized patients with almost half a million cases reported in the United States annually. C. difficile colonization is more common than infection. Identifying true infection versus colonization is critical to avoiding inappropriate treatment, unnecessary exposure to antibiotics, and increased cost of care. Implementation of evidenced-based CDI testing criteria can help reduce inappropriate CDI testing and avoid the misidentification of colonized patients as true CDI.

Purpose: The purpose of this project was to evaluate the effectiveness of an evidence-based electronic health record (EHR) integrated CDI testing algorithm in reducing inappropriate CDI testing among adult …

Recognizing And Reporting Of Child Maltreatment In A Pediatric Primary Care Setting., Jennifer L. Dumey

Doctor of Nursing Practice Papers

Child abuse and neglect, together known as child maltreatment, is a global problem with grim lifelong consequences (WHO, n.d.). Education and confidence in reporting child maltreatment are imperative for medical providers who are responsible for the evaluation of children during routine visits with pediatric providers. Research continues to link child maltreatment with adverse health outcomes that span throughout a person's lifetime. For this reason, medical providers must be provided with continued education on early recognition and reporting of concerns for child maltreatment.

The purpose of this project is to increase provider knowledge on the identification and reporting of child maltreatment. …

The Effects Of Natural Epigenetic Therapies In 3d Ovarian Cancer And Patient-Derived Tumor Explants: New Avenues In Regulating The Cancer Secretome., Rebeca Kelly, Diego Aviles, Catriona Krisulevicz, Krystal Hunter, Lauren Krill, David Warshal, Olga Ostrovsky

Cooper Medical School of Rowan University Departmental Research

High mortality rates in ovarian cancer have been linked to recurrence, metastasis, and chemoresistant disease, which are known to involve not only genetic changes but also epigenetic aberrations. In ovarian cancer, adipose-derived stem cells from the omentum (O-ASCs) play a crucial role in supporting the tumor and its tumorigenic microenvironment, further propagating epigenetic abnormalities and dissemination of the disease. Epigallocatechin gallate (EGCG), a DNA methyltransferase inhibitor derived from green tea, and Indole-3-carbinol (I3C), a histone deacetylase inhibitor from cruciferous vegetables, carry promising effects in reprograming aberrant epigenetic modifications in cancer. Therefore, we demonstrate the action of these diet-derived compounds in …

Making Home: The Role Of Social Networks On Identity, Health, And Quality Of Life Among Rural Lesbian And Gay Older Adults, Marc A. Guest, Elizabeth G. Hunter, Nancy E. Schoenberg

UK CARES Faculty Publications

Background and Objectives: Gay and lesbian older persons face a host of health inequalities related to their identity as they age. Challenges to health access and appropriate social support may be even more exacerbated for those living in rural environments; this may be due to the lack of supportive and affirming social connections. This project aimed to explore and describe the social networks and the relationship of these social networks to identity, health, and quality of life of gay and lesbian individuals in rural communities.

Research Design and Methods: Social network data on network type, size, and social capital were …

Cerebral Venous Sinus Thrombosis (Cvst), Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Conjunctivitis, Neonatal, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Eating Disorders - Medical Work-Up And Stabilization, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Difficult Airway Intubation, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Heavy Menstrual Bleeding, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Treatment Of Adult Spasticity With Botox (Onabotulinumtoxina): Development, Insights, And Impact, Alberto Esquenazi, Wolfgang H. Jost, Catherine C. Turkel, Theodore Wein, Rozalina Dimitrova

Moss-Magee Rehabilitation Papers

Upper and lower limb spasticity (ULS, LLS) often occur following a stroke or in patients with other neurological disorders, leading to difficulties in mobility and daily living and decreased quality of life. Prior to the use of onabotulinumtoxinA, antispastic medications had limited efficacy and often caused sedation. Phenol injections were difficult for physicians to perform, painful, and led to tissue destruction. The success of onabotulinumtoxinA in treating cervical dystonia led to its use in spasticity. However, many challenges characterized the development of onabotulinumtoxinA for adult spasticity. The wide variability in the presentation of spasticity among patients rendered it difficult to …

Calculating Differences In Surrogate Lung Perfusion Measurements Between Smokers And Nonsmokers As A Biomarker To Assess Their Potentials For Developing Chronic Obstructive Pulmonary Disease, A Prakash, A Nowacki, Y K. Liu, J Cisneros-Paz, Girish Nair, E Castillo

Conference Presentation Abstracts

Purpose: COPD (chronic obstructive pulmonary disease) is a collection of lung diseases that complicates breathing and causes irreversible lung damage. Given that it is a progressive disease, early detection is crucial for managing its symptoms. We recently developed a method for calculating pulmonary blood mass change (PBMC) apparent on paired inhale/exhale non-contrast computed tomography (CT) scans as a quantitative surrogate for lung perfusion. Our long term objective is to develop a PBMC biomarker for predicting COPD progression. As a first step, we hypothesize that PBMC is significantly lower for non-COPD smokers versus non-COPD non-smokers. Methods: CT scans from 77 healthy …

Republication Of "Uses Of Braces And Orthotics For Conservative Management Of Foot And Ankle Disorders"., Osama Elattar, Tyler Smith, Adam Ferguson, Daniel Farber, Keith Wapner

Orthopedic Surgery Resident Research

Nonsurgical management is almost always considered the first-line treatment for the vast majority of foot and ankle pathologies. Foot orthoses, shoe modifications, and therapeutic footwear are considered essential tools for successful conservative management of different foot and ankle disorders. Orthopedic foot and ankle surgeons should have a meticulous understanding of the lower extremity biomechanics as well as the pathoanatomy and the sequelae of diseases affecting the foot and/or ankle. This is essential to the understanding of the desired effects of the different inserts, orthotics, shoe modifications, or braces that may be prescribed for these conditions. In this article, we will …

Coping Mechanisms During The Covid-19 Pandemic And Lockdown In Metropolitan Johannesburg, South Africa: A Qualitative Study, Nerli Paredes Ruvalcaba, Andrew Wooyoung Kim, Nokubonga Ndaba, Lindile Cele, Someleze Swana, Edna Bosire, Aneesa Moolla

Brain and Mind Institute

Background: The COVID-19 pandemic has caused prolonged stress on numerous fronts. While the acute health impacts of psychosocial stress due to the pandemic are well-documented, less is known about the resources and mechanisms utilized to cope in response to stresses during the pandemic and lockdown.

Objective: The aim of this study was to identify and describe the coping mechanisms adults utilized in response to the stressors of the COVID-19 pandemic during the 2020 South African lockdown.

Methods: This study included adults (n=47: 32 female; 14 male; 1 non-binary) from the greater Johannesburg region in South Africa. Interviews …

Factors Affecting Treatment Adherence Among Leprosy Patients: Perceptions Of Healthcare Providers, Veincent Christian F. Pepito, Arianna Maever Loreche, Rae Erica D. Samontina, Sarah Jane A. Abdon, David Norman L. Fuentes, Ofelia P. Saniel

Ateneo School of Medicine and Public Health Publications

Background

Treatment adherence is a vital aspect in the management of chronic diseases like leprosy; however, most studies on treatment adherence focus on patients. This study aims to examine the perceptions of healthcare providers on factors that can promote or prevent patients from adhering to treatment.

Methods

We conducted three focus group discussions (FGDs) with healthcare providers who have at least one year experience in managing leprosy in three large leprosy case-holding hospitals in Metro Manila, Philippines. We audio-recorded, transcribed, translated the FGD proceedings, and analyzed the transcripts thematically to identify patient-intrinsic and patient-extrinsic enablers and barriers to treatment adherence …

Labrad : Vol 48, Issue 1 - July 2023, Aga Khan University Hospital, Karachi

LABRAD - Departments of Pathology & Laboratory Medicine and Radiology Archives

• Editorial
• Articles
• Toxicology In Public Health: Mitigating Risk, Fostering Well-Being
• Predictive And Prognostic Biomarkers in Histopathology
• Cancer Registry and Public Health Surveillance - Role of Pathologists
• Diagnosis of Celiac Disease DQA1*02,05; DQB1*02,03:02 (DQ2&DQ8) in patients
• Magnifying The Clinical Value of Expert Review and Reassessment
• Urine Cytology: A Screening and Surveillance Test
• An Overview of Convalescent Plasma for The Treatment of COVID-19
• Role of Imaging in Public Health Care
• Microsatellite Instability (MSI) Testing
• MRI Liver with Hepatocyte-Specific Contrast Agent
• Basics and Role of Cytopathology
• Bone Tumors: From Timely Diagnosis to Improved Patient Outcome
• Differentiating Between Dengue Fever and Malaria Using The …

Oxygen Therapy Education To Improve Oxygen Safety In The Emergency Department: A Quality Improvement Project, Latania Wolfe

DNP Projects

Background and Significance: Oxygen is often administered in emergency departments (ED) in US without the nurses and other healthcare staff inputting orders for this medication. This gap in placing orders poses a risk to patient safety and poses a regulation issue.

Purpose: The goal of this quality improvement project is to increase the rate of orders placed for patients using oxygen in ED staff by 12% from March 1, 2023 to May 31, 2023.

Methods: The Model for Improvement guided this quality improvement project. Two PDSA cycles were completed.

Results: PDSA #1 Completed SWOT analysis and used information to …

Phenotype And Genetic Analysis Of Data Collected Within The First Year Of Neurodev, Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, Emily O’Heir, Jake Allen, Christina Austin-Tse, Samantha Baxter, Amina Abubakar, Charles Newton, Alicia Martin

Institute for Human Development, East Africa

Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev’s first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing …

Cost-Effectiveness Of Hydroxyurea For Sickle Cell Anemia In A Low-Income African Setting: A Model-Based Evaluation Of Two Dosing Regimens, David Teigen, Robert Opoka, Phillip Kasirye, Catherine Nabaggala, Heather A. Hume, Bjørn Blomberg, Chandy John, Russell Ware, Bjarne Robberstad

Paediatrics and Child Health, East Africa

Background and Objective: The disease burden of sickle cell anemia (SCA) in sub-Saharan African (SSA) countries is substantial, with many children dying without an established diagnosis or proper treatment. The global burden of SCA is increasing each year, making therapeutic intervention a high priority. Hydroxyurea is the only disease-modifying therapy with proven feasibility and efcacy suitable for SSA; however, no one has quantifed the health economic implications of its use. Therefore, from the perspective of the health care provider, we estimated the incremental cost-efectiveness of hydroxyurea as a fxed-dose regimen or maximum tolerated dose (MTD) regimen, versus SCA care without …

Validation Of The Hierarchical Nature Of The Ao Spine Sacral Classification And The Development Of The Sacral Ao Spine Injury Score, Brian A. Karamian, Gregory D. Schroeder, Mark J. Lambrechts, Jose A. Canseco, Emiliano N. Vialle, Frank Kandziora, Lorin M. Benneker, Rajasekaran Shanmuganathan, F. Cumhur Öner, Klaus J. Schnake, Christopher K. Kepler, Alexander R. Vaccaro

Rothman Institute Papers

STUDY DESIGN: Global cross-sectional survey.

OBJECTIVE: The objective of this study was to validate the hierarchical nature of the AO Spine Sacral Classification System and develop an injury scoring system.

SUMMARY OF BACKGROUND DATA: Although substantial interobserver and intraobserver reliability of the AO Spine Sacral Classification System has been established, the hierarchical nature of the classification has yet to be validated.

METHODS: Respondents numerically graded each variable within the classification system for severity. Based on the results, a Sacral AO Spine Injury Score (AOSIS) was developed.

RESULTS: A total of 142 responses were received. The classification exhibited a hierarchical Injury …