Medical Specialties Commons^™

Increasing Number Of Unusual Brain Abnormalities Seen In Rural West Virginia, Taylor R. Maddox, Jessica Haas, Lacey Andrews, Hannah Redman, Balaji Govindaswami, Todd H. Davies

Marshall Journal of Medicine

The incidence rate of schizencephaly is 1.5 in 100,000 live births and the rate of holoprosencephaly is 1 in 16,000 live births. Both malformations are rare, but our institution has seen a dramatic increase in both malformations in recent years with no known cause. Schizencephaly is the most severe cortical malformation and holoprosencephaly is the most common defect in the prosencephalon during development however, it is still not very common to see a fetus with this defect live to delivery. Our institution seen four cases of schizencephaly and three cases of holoprosencephaly within two years. No two neonates seem to …

Revisiting Child And Adolescent Health In The Context Of The Sustainable Development Goals, Zulfiqar Ahmed Bhutta, Kathryn M. Yount, Quique Bassat, Artur A. Arikainen

Woman and Child Health

No abstract provided.

Machine Learning Model Demonstrates Stunting At Birth And Systemic Inflammatory Biomarkers As Predictors Of Subsequent Infant Growth - A Four-Year Prospective Study, Elizabeth Harrison, Sana Syed, Lubaina Ehsan, Najeeha Talat Iqbal, Kamran Sadiq, Fayyaz Umrani, Sheraz Ahmed, Najeeb Rahman, Sadaf Jakhro, Jennie Z. Ma, Molly Hughes, Syed Asad Ali

Department of Paediatrics and Child Health

Background: Stunting affects up to one-third of the children in low-to-middle income countries (LMICs) and has been correlated with decline in cognitive capacity and vaccine immunogenicity. Early identification of infants at risk is critical for early intervention and prevention of morbidity. The aim of this study was to investigate patterns of growth in infants up through 48 months of age to assess whether the growth of infants with stunting eventually improved as well as the potential predictors of growth.
Methods: Height-for-age z-scores (HAZ) of children from Matiari (rural site, Pakistan) at birth, 18 months, and 48 months were obtained. Results …

High Molecular Weight Adiponectin Levels Are Inversely Associated With Adiposity In Pediatric Brain Tumor Survivors., Rebecca Ronsley, Shahrad Rod Rassekh, Adam Fleming, Brianna Empringham, William Jennings, Carol Portwine, Sarah Burrow, Shayna Zelcer, Donna L Johnston, Lehana Thabane, M Constantine Samaan

Paediatrics Publications

While children with brain tumors are surviving at record rates, survivors are at risk of cardiovascular disease and type 2 diabetes mellitus; these conditions may be driven by excess body fat. Adiponectin in an adipokine that is inversely associated with the fat mass, and has been linked to cardiometabolic risk stratification in the general population. However, adiponectin's profile and determinants in SCBT have not been established. We tested the hypothesis that high molecular weight (HMW) adiponectin levels, the more biologically active form of adiponectin, were associated with adiposity in SCBT similarly to non-cancer controls. Seventy-four SCBT (n = 32 female) …

Cardiovascular Disease Risk Assessment In Patients With Familial Mediterranean Fever Related Renal Amyloidosis., Micol Romano, David Piskin, Roberta A Berard, Bradley C Jackson, Cengizhan Acikel, Juan J Carrero, Helen J Lachmann, Mahmut I Yilmaz, Erkan Demirkaya

Paediatrics Publications

Chronic inflammation and proteinuria is a risk factor for cardiovascular disease (CVD) in patients with chronic kidney diseases and rheumatologic disorders. Our aim was to investigate the CVD events (CVDEs) and survival between the patients with FMF-related AA amyloidosis and glomerulonephropathies (GN) to define possible predictors for CVDEs. A prospective follow-up study with FMF-amyloidosis and glomerulonephropathy (GN) was performed and patients were followed for CVDEs. Flow-mediated dilatation (FMD), FGF-23, serum lipid, hsCRP levels, BMI and HOMA were assessed. A Cox regression analysis was performed to evaluate the risk factors for CVDEs. There were 107 patients in the FMF-amyloidosis group and …

Morphologic Remission Status Is Limited Compared To Δn Flow Cytometry: A Children's Oncology Group Aaml0531 Report., Lisa Eidenschink Brodersen, Robert B. Gerbing, M Laura Pardo, Todd A. Alonzo, Dana Paine, Wayne Fritschle, Fan-Chi Hsu, Jessica A. Pollard, Richard Aplenc, Samir B. Kahwash, Betsy Hirsch, Susana Ramondi, Denise Wells, E Anders Kolb, Alan S. Gamis, Soheil Meshinchi, Michael R. Loken

Manuscripts, Articles, Book Chapters and Other Papers

Risk stratification for acute myeloid leukemia (AML) uses molecular and cytogenetic abnormalities identified at diagnosis. Response to therapy informs risk, and morphology continues to be used more frequently than flow cytometry. Herein, the largest cohort of pediatric patients prospectively assessed for measurable residual disease (MRD) by flow cytometry (N = 784) is reported. The "difference from normal" (ΔN) technique was applied: 31% of all patients tested positive (AML range, 0.02% to 91%) after the first course of treatment on Children's Oncology Group study AAML0531. Detection of MRD following initial chemotherapy proved the strongest predicator of overall survival (OS) in univariable …

Outcomes After In Utero Myelomeningocele Repair Based On Delivery Location, Eric P Bergh, Kuojen Tsao, Mary T Austin, Stephen A Fletcher, Suzanne M Lopez, Kenneth J Moise, Anthony Johnson, Ramesha Papanna

Faculty, Staff and Student Publications

Maternal and pediatric delivery outcomes may vary in patients who underwent open fetal myelomeningocele repair and elected to deliver at the fetal center where their fetal intervention was performed versus at the referring physician’s hospital. A prospective cohort study of 88 patients were evaluated following in utero open fetal myelomeningocele repair at a single fetal center between the years 2011–2019. Exclusion criteria included patients that delivered within two weeks of the procedure (n = 6), or if a patient was lost to follow-up (n = 1). Of 82 patients meeting inclusion criteria, 36 (44%) patients were delivered at …

Outcomes After In Utero Myelomeningocele Repair Based On Delivery Location, Eric P Bergh, Kuojen Tsao, Mary T Austin, Stephen A Fletcher, Suzanne M Lopez, Kenneth J Moise, Anthony Johnson, Ramesha Papanna

Faculty, Staff and Student Publications

Maternal and pediatric delivery outcomes may vary in patients who underwent open fetal myelomeningocele repair and elected to deliver at the fetal center where their fetal intervention was performed versus at the referring physician’s hospital. A prospective cohort study of 88 patients were evaluated following in utero open fetal myelomeningocele repair at a single fetal center between the years 2011–2019. Exclusion criteria included patients that delivered within two weeks of the procedure (n = 6), or if a patient was lost to follow-up (n = 1). Of 82 patients meeting inclusion criteria, 36 (44%) patients were delivered at …

Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome., Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A J Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas C. Bittel, Lalita Wadhwa, Clifford L. Cua, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick

Manuscripts, Articles, Book Chapters and Other Papers

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or array-based imputation. We utilized sequence kernel association testing and polygenic risk score (PRS) methods to examine rare and common variants. Our findings suggest that the Notch pathway, particularly …

Researching The Delivery Of Health And Nutrition Interventions For Women And Children In The Context Of Armed Conflict: Lessons On Research Challenges And Strategies From Branch Consortium Case Studies Of Somalia, Mali, Pakistan And Afghanistan, Michelle F. Gaffey, Anushka Ataullahjan, Jai K. Das, Mohammed Shafiq Mirzazada, Moctar Tounkara, Abdirisak A. Dalmar, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: The BRANCH Consortium recently conducted 10 mixed-methods case studies to investigate the provision of health and nutrition interventions for women and children in conflict-affected countries, aiming to better understand the dominant influences on humanitarian health actors' programmatic decision-making and how such actors surmount intervention delivery barriers. In this paper, the research challenges encountered and the mitigating strategies employed by the case study investigators in four of the BRANCH case study contexts are discussed: Somalia, Mali, Pakistan and Afghanistan.
Discussion: Many of the encountered research challenges were anticipated, with investigators adopting mitigation strategies in advance or early on, but others …

Serious Neonatal Morbidities Are Associated With Differences In Dna Methylation Among Very Preterm Infants., Todd M. Everson, T Michael O'Shea, Amber Burt, Karen Hermetz, Brian S. Carter, Jennifer Helderman, Julie A. Hofheimer, Elisabeth C. Mcgowan, Charles R. Neal, Steven L. Pastyrnak, Lynne M. Smith, Antoine Soliman, Sheri A. Dellagrotta, Lynne M. Dansereau, James F. Padbury, Barry M. Lester, Carmen J. Marsit

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Infants born very preterm are more likely to experience neonatal morbidities compared to their term peers. Variations in DNA methylation (DNAm) associated with these morbidities may yield novel information about the processes impacted by these morbidities.

METHODS: This study included 532 infants born < 30 weeks gestation, participating in the Neonatal Neurobehavior and Outcomes in Very Preterm Infants study. We used a neonatal morbidity risk score, which was an additive index of the number of morbidities experienced during the NICU stay, including bronchopulmonary dysplasia (BPD), severe brain injury, serious neonatal infections, and severe retinopathy of prematurity. DNA was collected from buccal cells at discharge from the NICU, and DNAm was measured using the Illumina MethylationEPIC. We tested for differential methylation in association with the neonatal morbidity risk score then tested for differentially methylated regions (DMRs) and overrepresentation of biological pathways.

RESULTS: We identified ten differentially methylated CpGs (α Bonferroni-adjusted for 706,278 tests) that were associated with increasing neonatal morbidity risk scores at three intergenic regions and at HPS4, SRRD, FGFR1OP, TNS3, TMEM266, LRRC3B, ZNF780A, and TENM2. These mostly followed dose-response patterns, for 8 CpGs increasing DNAm associated with increased numbers of morbidities, while for 2 CpGs …

Cyclosporine Shows Benefit As Compared To Methotrexate For Treatment Of Pediatric Atopic Dermatitis Refractory To Topical Medications When Rapidity Of Clinical Response Is Of Key Importance To The Patient, Connor R. Buechler, Steven Daveluy Md

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising El-Khalawany MA, Hassan H, Shaaban D, Ghonaim N, Eassa B. Methotrexate versus cyclosporine in the treatment of severe atopic dermatitis in children: a multicenter experience from Egypt. European Journal of Pediatrics. 2012;172(3):351-356. https://doi.org10.1007/s00431-012-1893-3 for a pediatric patient with severe atopic dermatitis.

Little Is Known About Cannabidiol For Improving Severe Behavioral Symptoms Of Autistic Spectrum Disorder, Keerteshwrya Mishra

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report appraising Barchel D, Stolar O, De-Haan T, et al. Oral cannabidiol use in children with autism spectrum disorder to treat related symptoms and co-morbidities. Frontiers in Pharmacology. 2019;9. https://doi.org/10.3389/fphar.2018.01521

An Unexpected Outcome Of A Pediatric Simulation Encounter For Occupational Therapy Students., Anne H. Zachry, K. Booker, S. B. Lancaster

Faculty Presentations

This presentation reviewed how to plan and implement a pediatric simulated educational experience to align with the targeted course learning objective(s). Participants learned how to incorporate best practices into simulation education in order to advance occupational therapy education.

Tam Family Receptors In Conjunction With Mapk Signalling Are Involved In Acquired Resistance To Pi3kα Inhibition In Head And Neck Squamous Cell Carcinoma., Kara M Ruicci, Jalna Meens, Paul Plantinga, William Stecho, Nicole Pinto, John Yoo, Kevin Fung, Danielle Macneil, Joe S Mymryk, John W Barrett, Christopher J Howlett, Paul C Boutros, Laurie Ailles, Anthony C Nichols

Paediatrics Publications

BACKGROUND: Aberrant activation of the phosphatidylinositol 3-kinase (PI3K) pathway is common in many malignancies, including head and neck squamous cell carcinoma (HNSCC). Despite pre-clinical and clinical studies, outcomes from targeting the PI3K pathway have been underwhelming and the development of drug resistance poses a significant barrier to patient treatment. In the present study, we examined mechanisms of acquired resistance to the PI3Kα inhibitor alpelisib (formerly BYL719) in HNSCC cell lines and patient-derived xenografts (PDXs).

METHODS: Five unique PDX mouse models and three HNSCC cell lines were used. All cell lines and xenografts underwent genomic characterization prior to study. Serial drug …

Walking School Bus Programs: Implementation Factors, Implementation Outcomes, And Student Outcomes, 2017-2018., Jordan A. Carlson, Chelsea Steel, Carolina M. Bejarano, Marshall T. Beauchamp, Ann M. Davis, James F. Sallis, Jon Kerner, Ross Brownson, Sara Zimmerman

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE AND OBJECTIVES: Walking school bus programs increase children's physical activity through active travel to school; however, research to inform large-scale implementation of such programs is limited. We investigated contextual factors, implementation outcomes, and student outcomes in existing walking school bus programs in the United States and internationally.

INTERVENTION APPROACH: Walking school bus programs involve a group of children walking to school together with an adult leader. On the trip to school, these adults provide social support, address potential traffic and interpersonal safety, and serve as role models to the children while children increase their physical activity levels.

EVALUATION METHODS: …

Response Of Extensively Drug Resistant Salmonella Typhi To Treatment With Meropenem And Azithromycin, In Pakistan, Sonia Qureshi, Abdullah B. Naveed, Mohammad Tahir Yousafzai, Khalil Ahmad, Sarwat Ansari, Heeramani Lohana, Aiman Mukhtar, Farah Naz Qamar

Department of Paediatrics and Child Health

Introduction: Salmonella Typhi is one of the leading health problems in Pakistan. With the emergence of extensively drug resistant (XDR) Salmonella Typhi, treatment options are limited. Here we report the clinical manifestations and the response to treatment of patients with XDR Typhoid fever. The patients were treated with either Meropenem or Azithromycin or a combination of both.
Methods: We reviewed the records of culture confirmed XDR typhoid who visited Aga Khan University Hospital (AKUH), Karachi and Aga Khan Secondary Care Hospital, Hyderabad from April 2017 to June 2018. Symptoms developed during disease, unplanned treatment extension and complications developed while on …

Accuracy Of Rn Visual Quantification Of Emesis Volumes In The Neonatal Intensive Care Unit, Stephen Stoever

Seton Hall University DNP Final Projects

An important component of nursing assessment of feeding tolerance in the neonatal intensive care unit (NICU) for both low-risk and high-risk babies, is the quantification of emesis volumes. While some nurses attempt to weigh the items saturated in emesis in order to quantify volume loss (QEV), there is no or limited consistency in this practice across nurses in this unit. Rather, volumes are “best-guessed” or estimated (EEV) and reported to the practitioner for decision-making. Often feed advances are paused or limited due to perceived feeding intolerance connected to emesis events in neonates.

For this project, 158 NICU nurses at a …

Evaluating Implementation Of "Management Of Possible Serious Bacterial Infection (Psbi) When Referral Is Not Feasible" In Primary Health Care Facilities In Sindh Province, Pakistan, Maria Asif Bhura, Shabina Ariff, Shamim Ahmad Qazi, Zaitoon Qazi, Imran Ahmed, Yasir Bin Nisar, Zamir Suhag, Abdul Wahab Soomro, Sajid Bashir Soofi

Woman and Child Health

Background: The World Health Organization (WHO) launched a guideline in 2015 for managing Possible Serious Bacterial Infection (PSBI) when referral is not feasible in young infants aged 0-59 days. This guideline was implemented across 303 Basic Health Unit (BHU) Plus primary health care (PHC) facilities in peri-urban and rural settings of Sindh, Pakistan. We evaluated the implementation of PSBI guideline, and the quality of care provided to sick young infants at these facilities.
Methods: Thirty (10%) out of 303 BHU Plus facilities were randomly selected for evaluation. A survey team visited each facility for one day, assessed the health system …

Ace2 Mouse Models: A Toolbox For Cardiovascular And Pulmonary Research, Hongpeng Jia, Xinping Yue, Eric Lazartigues

School of Medicine Faculty Publications

Angiotensin-converting enzyme 2 (ACE2) has been identified as the host entry receptor for the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) responsible for the COVID-19 pandemic. ACE2 is a regulatory enzyme of the renin-angiotensin system and has protective functions in many cardiovascular, pulmonary and metabolic diseases. This review summarizes available murine models with systemic or organ-specific deletion of ACE2, or with overexpression of murine or human ACE2. The purpose of this review is to provide researchers with the genetic tools available for further understanding of ACE2 biology and for the investigation of ACE2 in the pathogenesis and treatment of COVID-19.

Developing And Implementing A Novel Mentorship Model (4+ 1) For Maternal, Newborn And Child Health In Rwanda, Anaclet Ngabonzima, Cynthia Kenyon, Celestin Hategeka, Aimee Josephine Utuza, Paulin Ruhato Banguti, Isaac Luginaah, David F Cechetto

Paediatrics Publications

BACKGROUND: There are a number of factors that may contribute to high mortality and morbidity of women and newborns in low-income countries. These include a shortage of competent health care providers (HCP) and a lack of sufficient continuous professional development (CPD) opportunities. Strengthening the skills and building the capacity of HCP involved in the provision of maternal, newborn and child health (MNCH) is essential to ensure quality care for mothers, newborns and children. To address this challenge in Rwanda, mentorship of HCPs was identified as an approach that could help build capacity, improve the provision of care and accelerate the …

Healthcare Barriers For Congolese Refugee Children In Louisville, Ky: Parental Perception And Narratives Through Focus Group Discussions, Zheyi Teoh, Brit Anderson, Annie Rominger

Journal of Refugee & Global Health

Background: There are up to 3500 refugees who resettle in Kentucky annually with 66% of refugee children originating from the Democratic Republic of the Congo. Little is known about the barriers to healthcare perceived by Congolese parents. This information can direct interventions to improve the care of these children.

Methods: Focus group discussions (FGD) were used to allow families to share personal anecdotes, compare experiences, and encourage discussion between group members. Between August 2018 to May 2020, three FGDs were conducted with Congolese parents who have at least one child ≤18 years old. An interpreter was utilized for each session …

Feasibility Of Treating High Grade Gliomas In Children With Tumor-Treating Fields: A Case Series., John Crawford, Marlon G Saria, Girish Dhall, Ashley Margol, Santosh Kesari

Articles, Abstracts, and Reports

Children diagnosed with high grade gliomas (HGG) have dismal prognoses and treatment options remain limited. Tumor treating fields (TTFields) in combination with temozolomide (TMZ) is approved for the treatment of newly diagnosed and recurrent glioblastoma (GBM) in adult patients. However, clinical experience with TTFields in the pediatric HGG population is lacking. This retrospective review of four clinical cases was undertaken to evaluate the feasibility of treating children diagnosed with HGG off-label with TTFields. Patients were evaluated for device compliance, safety, and outcome. Treatment with TTFields was delivered via four transducer arrays placed on the shaved scalp, which were connected to …

Telehealth Care And Its Role In Undergraduate Medical Education In The Covid-19 Era., Peter J. Gonzalez, Dustin J. Paul

MEDI 9331 Scholarly Activities Clinical Years

Background

On March 17, 2020, the American Association of Medical Colleges issued a statement which “strongly supports medical schools pausing all student clinical rotations, effective immediately, until at least March 31.” The University of Texas Rio Grande Valley School of Medicine immediately withdrew third- and fourth-year students from clinical rotation sites, and developed alternative, online-based clerkship curricula to complete for the remainder of the academic year. The COVID-19 pandemic has brought about many challenges to Undergraduate Medical Education, and has deprived upper-level students of foundational, in-person, clinical experiences. The UTRGV School of Medicine Department of Neurology is among the first …

Variation In Early Number Skills And Mathematics Achievement: Implications From Cognitive Profiles Of Children With Or Without Turner Syndrome, Sarah L Lukowski, Emily R Padrutt, Kyriakie Sarafoglou, Judith L. Ross, Jennifer R Law, Rachel E Olson, Michèle M M Mazzocco

Department of Pediatrics Faculty Papers

Individuals with Mathematics Learning Disabilities have persistent mathematics underperformance but vary with respect to their cognitive profiles. The present study examined mathematics ability and achievement, and associated mathematics-specific numerical skills and domain-general cognitive abilities, in young children with Turner syndrome compared to their matched peers. We utilized two independent peer groups so that group comparisons would account for verbal skills, a hypothesized strength of girls with Turner syndrome, and nonsymbolic magnitude comparison skills, a hypothesized difference of girls with Turner syndrome. This individual matching approach afforded characterization of mathematics profiles of girls with Turner syndrome and girls without Turner syndrome …

Comparison Study: Trauma-Focused Cognitive Behavioral Therapy And Acceptance And Commitment Therapy For Trauma, Colleen Marie Kirsch Hiltz White

Dissertations

There is a need for more evidenced based treatments for adolescents with trauma related disorders. Currently, Trauma Focused Cognitive Behavioral Therapy (TF CBT) is the gold standard, but clients and clinician need the ability to choose between effective treatments. This study completed a direct comparison between six weeks of treatment in Acceptance and Commitment Therapy for Trauma and TF CBT via telehealth during the COVID-19 pandemic. Treatments were measured using the Clinician Administered PTSD Scale and the Child PTSD Symptom Scale. Both treatments were found to be effective in reducing trauma related symptoms in two 12-year-old females.

A Second Cohort Of Chd3 Patients Expands The Molecular Mechanisms Known To Cause Snijders Blok-Campeau Syndrome, Theodore G Drivas, Dong Li, Divya Nair, Joseph T Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E Martina Bebin, Nicole L Bertsch, Patrick R Blackburn, Alyssa Blesson, Arjan M Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M Cooper, Jonas Denecke, Anne Dieux-Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren E Bartik, Lauren B Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W Klee, Katja Kloth, Baiba Lace, Marina Macchiaiolo, Julien L Marcadier, Jeff M Milunsky, Melanie P Napier, Xilma R Ortiz-Gonzalez, Pavel N Pichurin, Jason Pinner, Zoe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen J Rasmussen, Deborah L Renaud, Eric T Rush, Carol Saunders, Duygu Selcen, Ann R Seman, Deepali N Shinde, Erica D Smith, Thomas Smol, Lot Snijders Blok, Joan M Stoler, Sha Tang, Marco Tartaglia, Michelle L Thompson, Jiddeke M Van De Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H Zackai, Giuseppe Zampino, Philippe Campeau, Elizabeth Bhoj

Paediatrics Publications

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further …

Delay In Diagnosis Of Patients With Head-And-Neck Cancer In Canada: Impact Of Patient And Provider Delay., S Kassirian, A Dzioba, S Hamel, K Patel, A Sahovaler, D A Palma, N Read, V Venkatesan, A C Nichols, J Yoo, K Fung, A Mendez, S D Macneil

Paediatrics Publications

Background: Head-and-neck cancers (hncs) often present at an advanced stage, leading to poor outcomes. Late presentation might be attributable to patient delays (reluctance to seek treatment, for instance) or provider delays (misdiagnosis, prolonged wait time for consultation, for example). The objective of the present study was to examine the length and cause of such delays in a Canadian universal health care setting.

Methods: Patients presenting for the first time to the hnc multidisciplinary team (mdt) with a biopsy-proven hnc were recruited to this study. Patients completed a survey querying initial symptom presentation, their previous medical appointments, and length of time …

Proceedings Of The 2019 Canadian Inflammatory Myopathy Study Symposium: Clinical Trial Readiness In Myositis., Valérie Leclair, Océane Landon-Cardinal, Rohit Aggarwal, Nick Bansback, Craig Campbell, Brian M Feldman, Martin Jarry, Suzan Mcnamara, Barbara White, Marie Hudson

Paediatrics Publications

The Canadian Inflammatory Myopathy Study (CIMS) is a multicenter prospective cohort recruiting in 8 centers across Canada. One of the aims of CIMS is to conduct and participate in clinical trials in autoimmune inflammatory myopathies (AIM). Conducting clinical trials in rare diseases such as AIM presents challenges. During this symposium, experts in the field presented different solutions to successfully conduct clinical trials in AIM, including the importance of collaboration and careful trial design, as well as training and mentoring of young investigators.

Genetic And Epigenetic Profiling Of Brca1/2 In Ovarian Tumors Reveals Additive Diagnostic Yield And Evidence Of A Genomic Brca1/2 Dna Methylation Signature, Erfan Aref-Eshghi, Jacob D. Mcgee, Victor P. Pedro, Jennifer Kerkhof, Alan Stuart, Peter J. Ainsworth, Hanxin Lin, Michael Volodarsky, Catherine Meg Mclachlin, Bekim Sadikovic

Paediatrics Publications

Poly-ADP-ribose-polymerase inhibitor (PARPi) treatment is indicated for advanced-stage ovarian tumors with BRCA1/2 deficiency. The “BRCAness” status is thought to be attributed to a tumor phenotype associated with a specific epigenomic DNA methylation profile. Here, we examined the diagnostic impact of combined BRCA1/2 sequence, copy number, and promoter DNA methylation analysis, and evaluated whether genomic DNA methylation patterns can predict the BRCAness in ovarian tumors. DNA sequencing of 172 human tissue samples of advanced-stage ovarian adenocarcinoma identified 36 samples with a clinically significant tier 1/2 sequence variants (point mutations and in/dels) and 9 samples with a CNV causing a loss of …