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The conserved multi-functional nuclear protein dss-1/Sem1 is required for C9orf72-associated ALS/FTD dipeptide toxicity.

Noah Puleo, Todd Lamitina,

MicroPubl Biol (microPublication biology)
[2020, 2020:]

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Neonatal opioid exposure: public health crisis and novel neuroinflammatory disease.

Vikram Vasan, Yuma Kitase, Jessie C Newville, Shenandoah Robinson, Gwendolyn Gerner, V Joanna Burton, Lauren L Jantzie,

Substance use, specifically the use of prescription and non-prescription opioids among pregnant women, is a major public health issue and chief contributor to the opioid crisis. The prevalence of Neonatal Opioid Withdrawal Syndrome has risen 5-fold in the past decade, and is a well-recognized consequence of perinatal opioid exposure. By ... Read more >>

Neural Regen Res (Neural regeneration research)
[2021, 16(3):430-432]

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Natural history of burnout, stress, and fatigue in a pediatric resident cohort over three years.

Lindsay R Koressel, Elizabeth Groothuis, Robert R Tanz, Hannah L Palac, Sandra M Sanguino,

BACKGROUND:Burnout is known to be high amongst physician trainees. Factors such as stress, fatigue, social environment, and resilience could affect burnout. Cross-sectional data describe burnout in pediatric residents, but the trajectory of burnout in a cohort of residents followed longitudinally through the full course of residency training has not been ... Read more >>

Med Educ Online (Medical education online)
[2020, 25(1):1815386]

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Delivering primary healthcare in conflict-affected settings: A review of the literature.

Sumona Chaudhury, Miranda McKinley Ravicz, Heather McPherson, Lauren Arlington, Tianyu Lin, Jessica Turco, Brett D Nelson,

OBJECTIVE:Conflict is often destructive to existing services and exacerbates population health inequities and the vulner-abilities of existing healthcare. We undertook a scoping review of the literature concerning delivery of primary healthcare (PHC) in post-conflict settings. DESIGN:We undertook a scoping review of the peer-reviewed and gray literature to identify articles related ... Read more >>

Am J Disaster Med (American journal of disaster medicine)
[2020, 15(1):49-69]

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Use of Genomewide Association Studies to Evaluate Genetic Predisposition to Testicular Germ Cell Tumors.

Anthony J Hooten, Erica Langer, Jenny N Poynter,

Genomewide association studies (GWAS) have been widely used in recent years to identify common variants that are associated with multiple types of cancer, including testicular germ cell tumors. These studies require no a priori hypotheses and have advantages, including the ability to highlight new pathways relevant to the biology of ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2021, 2195:189-223]

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Isolation and Characterization of Intact Cardiomyocytes from Frozen and Fresh Human Myocardium and Mouse Hearts.

Honghai Liu, Kevin Bersell, Bernhard Kühn,

Procurement and characterization of intact human cells are essential for studies in regenerative medicine and translational medical research. The selection of the currently available approaches to isolate intact cells depends on the age of the hearts. To isolate cardiomyocytes from the fetal or neonatal myocardium, the myocardium can be minced ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2021, 2158:199-210]

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Generation of Human Induced Pluripotent Stem Cells and Differentiation into Cardiomyocytes.

Lu Han, Jocelyn Mich-Basso, Bernhard Kühn,

Failure to regenerate myocardium after injury is a major cause of mortality and morbidity in humans. Direct differentiation of human induced pluripotent stem cells (iPSCs) into cardiomyocytes provides an invaluable resource to pursue cardiac regeneration based on cellular transplantation. Beyond the potential for clinical therapies, iPSC technology also enables the ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2021, 2158:125-139]

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Detection of DNA Methylation in Genomic DNA by UHPLC-MS/MS.

Konstantinos Boulias, Eric Lieberman Greer,

DNA methylation serves to mark DNA as either a directed epigenetic signaling modification or in response to DNA lesions. Methods for detecting DNA methylation have become increasingly more specific and sensitive over time. Conventional methods for detecting DNA methylation, ranging from paper chromatography to differential restriction enzyme digestion preference to ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2021, 2198:79-90]

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Association between hospital admissions and healthcare provider communication for individuals with sickle cell disease.

Robert M Cronin, Manshu Yang, Jane S Hankins, Jeannie Byrd, Brandi M Pernell, Adetola Kassim, Patricia Adams-Graves, Alexis A Thompson, Karen Kalinyak, Michael DeBaun, Marsha Treadwell,

Objective: To test the hypothesis that caregivers' or adult participants' low ratings of provider communication are associated with more hospital admissions among adults and children with sickle cell disease (SCD), respectively. Secondarily, we determined whether there was an association between the caregivers' or participants' health literacy and rating of providers' ... Read more >>

Hematology (Hematology (Amsterdam, Netherlands))
[2020, 25(1):229-240]

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Developing and Using a Data Commons for Understanding the Molecular Characteristics of Germ Cell Tumors.

Bo Ci, Shin-Yi Lin, Bo Yao, Danni Luo, Lin Xu, Mark Krailo, Matthew J Murray, James F Amatruda, A Lindsay Frazier, Yang Xie,

Germ cell tumors (GCTs) are a rare disease, but they account for 15% of all malignancies diagnosed during adolescence. The biological mechanisms underpinning their development are only starting to be explored. Current GCT treatment may be associated with significant toxicity. Therefore, there is an urgent need to understand the molecular ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2021, 2195:263-275]

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NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

Carla Noemi Castro, Michelle Rosenzwajg, Raphael Carapito, Mohammad Shahrooei, Martina Konantz, Amjad Khan, Zhichao Miao, Miriam Groß, Thibaud Tranchant, Mirjana Radosavljevic, Nicodème Paul, Tristan Stemmelen, Fabien Pitoiset, Aurélie Hirschler, Benoit Nespola, Anne Molitor, Véronique Rolli, Angélique Pichot, Laura Eva Faletti, Bruno Rinaldi, Sylvie Friant, Mark Mednikov, Hatice Karauzum, M Javad Aman, Christine Carapito, Claudia Lengerke, Vahid Ziaee, Wafaa Eyaid, Stephan Ehl, Fayhan Alroqi, Nima Parvaneh, Seiamak Bahram,

The Nck-associated protein 1-like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage-specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans. In two unrelated patients of Middle ... Read more >>

J. Exp. Med. (The Journal of experimental medicine)
[2020, 217(12):]

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Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Tomohiro Ishii, Toshihiro Tajima, Kenichi Kashimada, Tokuo Mukai, Yusuke Tanahashi, Noriyuki Katsumata, Junko Kanno, Takashi Hamajima, Kenichi Miyako, Shinobu Ida, Tomonobu Hasegawa,

CONTEXT:Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. Classic (CLCAH) and nonclassic (NCLCAH) forms were reported as total and partial deficiencies, respectively, of adrenal and gonadal steroid hormones. The rarity of LCAH has precluded large-scale epidemiological and clinical investigations. OBJECTIVE:To determine the epidemiological and clinical characteristics of ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2020, 105(11):]

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Developing a communication curriculum for primary and consulting services.

Michelle A Lopez, Judith Campbell,

Communication skills are fundamental to effective patient care, and inter-subspecialty communication is frequently identified as a key component of medical education curriculums globally. The team primarily responsible for a patient, the 'primary service', may often request a consult from a specialist, the 'consulting service', for questions of diagnosis, management, or ... Read more >>

Med Educ Online (Medical education online)
[2020, 25(1):1794341]

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Spectrum of Allergen Sensitization to Food and Inhalant Allergens Across All Ages.

Ju Hee Kim, WonKyung Cho, Jaewoo An, Eun Kyo Ha, Wonki Lee, Seung Won Lee, Chang Ho Lee, Sohyun Hwang, Youn Ho Shin, Man Yong Han,

Allergy Asthma Immunol Res (Allergy, asthma & immunology research)
[2020, 12(6):1060-1062]

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General Pediatricians' Performance of Accreditation Agency's Recommended Procedures: A Complementary Analysis Using Administrative Data and the Knowledge Translation Model.

Maya S Iyer, Charmaine B Lo, Rachel M Stanley,

INTRODUCTION:The Accreditation Council for Graduate Medical Education provided guidelines, in 2013, regarding 13 clinical procedures pediatric residents should learn. Previous studies show that, when asked, general pediatricians (GPeds) self-report performing these procedures infrequently. When examined using the knowledge translation model, this low procedural performance frequency, especially by GPeds, may indicate ... Read more >>

J Contin Educ Health Prof (The Journal of continuing education in the health professions)
[2020, 40(1):11-18]

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Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.

Megumi Iwahashi-Odano, Keisuke Nagasaki, Maki Fukami, Junko Nishioka, Shuichi Yatsuga, Yumi Asakura, Masanori Adachi, Koji Muroya, Tomonobu Hasegawa, Satoshi Narumi,

CONTEXT:PAX8 is a transcription factor required for thyroid development, and its mutation causes congenital hypothyroidism (CH). More than 20 experimentally verified loss-of-function PAX8 mutations have been described, and all but one were located in the DNA-binding paired domain. OBJECTIVE:We report the identification and functional characterization of 3 novel truncating PAX8 ... Read more >>

J. Clin. Endocrinol. Metab. (The Journal of clinical endocrinology and metabolism)
[2020, 105(11):]

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A new Canadian inception cohort for juvenile idiopathic arthritis: The Canadian Alliance of Pediatric Rheumatology Investigators Registry.

Michelle Batthish, Roberta Berard, David Cabral, Roxana Bolaria, Gaëlle Chédeville, Ciaran Duffy, Kerstin Gerhold, Tommy Gerschman, Adam Huber, Jean-Philippe Proulx-Gauthier, Alan Rosenberg, Dax Rumsey, Heinrike Schmeling, Natalie Shiff, Gordon Soon, Alessandra Bruns, Lori Tucker, Jaime Guzman, ,

OBJECTIVES:The aim was to describe the design, methods and initial findings of a new Canadian inception cohort of children with JIA, The Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) JIA Registry. METHODS:The CAPRI JIA Registry was started in 2017 to collect information prospectively on children enrolled within 3 months of JIA ... Read more >>

Rheumatology (Oxford) (Rheumatology (Oxford, England))
[2020, 59(10):2796-2805]

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A Multicentered Study on Epidemiologic and Clinical Characteristics of 37 Neonates With Community-acquired COVID-19.

Mehmet Kenan Kanburoglu, Cuneyt Tayman, Mehmet Yekta Oncel, Ilke Mungan Akin, Emrah Can, Nihat Demir, Sema Arayici, Demet Orhan Baser, Ibrahim Caner, Asli Memisoglu, Saime Sundus Uygun, Selahattin Akar, Mustafa Ali Akin, Emel Ataoglu, Handan Bezirganoglu, Leyla Bilgin, Senol Bozdag, Serdar Comert, Resat Gurpinar, Ebru Yalin Imamoglu, Timucin Imdadoglu, Fatma Narter, Ramazan Ozdemir, Handan Hakyemez Toptan, Emine Esin Yalinbas, Akan Yaman, Omer Erdeve, Esin Koc,

BACKGROUND:Coronavirus disease 2019 (COVID-19) primarily affects adults and spares children, whereas very little is known about neonates. We tried to define the clinical characteristics, risk factors, laboratory, and imagining results of neonates with community-acquired COVID-19. METHODS:This prospective multicentered cohort study included 24 neonatal intensive care units around Turkey, wherein outpatient ... Read more >>

Pediatr. Infect. Dis. J. (The Pediatric infectious disease journal)
[2020, 39(10):e297-e302]

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Racism and social injustice as determinants of child health: the American Pediatric Society Issue of the Year.

Steven H Abman, Clifford W Bogue, Susan Baker, Waldemar Carlo, Stephen R Daniels, Michael R Debaun, Candice Fike, Catherine M Gordon, Mary B Leonard, Robin H Steinhorn, Leslie R Walker-Harding, ,

Pediatr. Res. (Pediatric research)
[2020, :]

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Managing systemic venous occlusions in children.

Anne E Gill, Giridhar M Shivaram,

Pediatric venous disease is increasing in incidence in both inpatient and outpatient populations. The widespread use of central venous access devices as well as the rising incidence of thromboembolic events in pediatrics is leading to more systemic venous occlusions in both the central and peripheral veins. This review focuses on ... Read more >>

CVIR Endovasc (CVIR endovascular)
[2020, 3(1):59]

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Vitamin D supplementation in pregnancy and early infancy in relation to gut microbiota composition and C. difficile colonization: implications for viral respiratory infections.

Kelsea M Drall, Catherine J Field, Andrea M Haqq, Russell J de Souza, Hein M Tun, Nadia P Morales-Lizcano, Theodore B Konya, David S Guttman, Meghan B Azad, Allan B Becker, Diana L Lefebvre, Piush J Mandhane, Theo J Moraes, Malcolm R Sears, Stuart E Turvey, Padmaja Subbarao, James A Scott, Anita L Kozyrskyj,

In Canada and the US, the infant diet is supplemented with vitamin D via supplement drops or formula. Pregnant and nursing mothers often take vitamin D supplements. Since little is known about the impact of this supplementation on infant gut microbiota, we undertook a study to determine the association between ... Read more >>

Gut Microbes (Gut microbes)
[2020, 12(1):1799734]

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Impact of Failure of Noninvasive Ventilation on the Safety of Pediatric Tracheal Intubation.

Guillaume Emeriaud, Natalie Napolitano, Lee Polikoff, John Giuliano, Iris Toedt-Pingel, Michael Miksa, Simon Li, Kris Bysani, Deyin D Hsing, Sholeen Nett, David A Turner, Ronald C Sanders, Jan Hau Lee, Michelle Adu-Darko, Erin B Owen, Sandeep Gangadharan, Margaret Parker, Vicki Montgomery, Nancy Craig, Benjamin Crulli, Lauren Edwards, Matt Pinto, Fabrice Brunet, Justine Shults, Vinay Nadkarni, Akira Nishisaki, ,

OBJECTIVES:Noninvasive ventilation is widely used to avoid tracheal intubation in critically ill children. The objective of this study was to assess whether noninvasive ventilation failure was associated with severe tracheal intubation-associated events and severe oxygen desaturation during tracheal intubation. DESIGN:Prospective multicenter cohort study of consecutive intubated patients using the National ... Read more >>

Crit. Care Med. (Critical care medicine)
[2020, 48(10):1503-1512]

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Helicobacter pylori Infection in Pediatric Patients Living in Europe: Results of the EuroPedHP Registry 2013 to 2016.

Michal Kori, Thu Giang Le Thi, Katharina Werkstetter, Andrea Sustmann, Patrick Bontems, Ana Isabel Lopes, Monica Oleastro, Barbara Iwanczak, Nicolas Kalach, Zrinjka Misak, José Cabral, Matjaž Homan, Maria Luz Cilleruelo Pascual, Ender Pehlivanoglu, Thomas Casswall, Pedro Urruzuno, Maria José Martinez Gomez, Alexandra Papadopoulou, Eleftheria Roma, Jernej Dolinsek, Maria Rogalidou, Vaidotas Urbonas, Sonny Chong, Angelika Kindermann, Erasmo Miele, Francesca Rea, Áron Cseh, Sibylle Koletzko, ,

OBJECTIVES:The aim of the study was to assess clinical presentation, endoscopic findings, antibiotic susceptibility and treatment success of Helicobacter pylori (H. pylori) infected pediatric patients. METHODS:Between 2013 and 2016, 23 pediatric hospitals from 17 countries prospectively submitted data on consecutive H. pylori-infected (culture positive) patients to the EuroPedHP-Registry. RESULTS:Of 1333 ... Read more >>

J. Pediatr. Gastroenterol. Nutr. (Journal of pediatric gastroenterology and nutrition)
[2020, 71(4):476-483]

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Evaluating Pediatric Sepsis Definitions Designed for Electronic Health Record Extraction and Multicenter Quality Improvement.

Halden F Scott, Richard J Brilli, Raina Paul, Charles G Macias, Matthew Niedner, Holly Depinet, Troy Richardson, Ruth Riggs, Heidi Gruhler, Gitte Y Larsen, W Charles Huskins, Fran Balamuth, ,

OBJECTIVES:To describe the Children's Hospital Association's Improving Pediatric Sepsis Outcomes sepsis definitions and the identified patients; evaluate the definition using a published framework for evaluating sepsis definitions. DESIGN:Observational cohort. SETTING:Multicenter quality improvement collaborative of 46 hospitals from January 2017 to December 2018, excluding neonatal ICUs. PATIENTS:Improving Pediatric Sepsis Outcomes Sepsis ... Read more >>

Crit. Care Med. (Critical care medicine)
[2020, 48(10):e916-e926]

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Effect of the COVID-19 pandemic on medical student career perceptions: a national survey study.

Yasmeen M Byrnes, Alyssa M Civantos, Beatrice C Go, Tara L McWilliams, Karthik Rajasekaran,

BACKGROUND & OBJECTIVE:The COVID-19 pandemic and resulting cancellation of medical student clinical rotations pose unique challenges to students' educations, the impact of which has not yet been explored. DESIGN:This cross-sectional survey study collected responses from 13 April 2020 until 30 April 2020. Students at US allopathic medical schools completed the ... Read more >>

Med Educ Online (Medical education online)
[2020, 25(1):1798088]

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