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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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COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree.

Min Li, Zhihui Yue, Hongrong Lin, Haiyan Wang, Huamu Chen, Liangzhong Sun,

<h4>Backgroud</h4>Coenzyme Q10 (CoQ10) is involved in the biosynthesis of adenosine triphosphate (ATP), and is most abundant in the mitochondrial membrane. The primary CoQ10 deficiency caused by <i>COQ2</i> defect is mostly manifested as encephalopathy, encephalopathy with nephropathy, and rarely as an isolated nephrotic syndrome.<h4>Methods</h4>Clinical and pathological data and peripheral blood samples ... Read more >>

Ren Fail (Renal failure)
[2021, 43(1):97-101]

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Efficacy and safety of eltrombopag in the treatment of Chinese children with chronic immune thrombocytopenia.

Mo Chen, Jian-Pei Fang, Chuan-Xin Zhou, Xin-Yu Li, Shao-Fen Lin, Lu-Hong Xu,

<h4>Objectives</h4>Our aim is to evaluate initial efficacy, safety, and durable response of eltrombopag in the treatment of Chinese children with chronic immune thrombocytopenia (cITP).<h4>Methods</h4>This was a retrospective, single-center cohort study including 30 pediatric patients with cITP administered eltrombopag between 1 July 2017 and 1 January 2019. Patients with at least ... Read more >>

Hematology (Hematology (Amsterdam, Netherlands))
[2021, 26(1):31-36]

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Clinical profile of a Polish cohort of children and young adults with cystinuria.

Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Meritrafat Kirolos, Adam Haliński, Aleksandra Krzemień, Agnieszka Sobieszczańska-Droździel, Katarzyna Zachwieja, Bodo B Beck, Przemysław Sikora, Marcin Zaniew,

<h4>Background</h4>Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1-2% of pediatric kidney stones. In this study, we sought to identify the clinical characteristics of patients with cystinuria in a national cohort.<h4>Methods</h4>This was a retrospective study involving 30 patients from ... Read more >>

Ren Fail (Renal failure)
[2021, 43(1):62-70]

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Dreams deferred.

Rachel Fleishman,

Lancet (Lancet (London, England))
[2021, 396(10267):2083-2084]

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Stochastic gene expression and chromosome interactions in protecting the human active X from silencing by XIST.

Barbara R Migeon,

Mammals use X chromosome inactivation to compensate for the sex difference in numbers of X chromosomes. A relatively unexplored question is how the active X is protected from inactivation by its own XIST gene, the long non-coding RNA, which initiates silence of the inactive X.  Previous studies of autosomal duplications ... Read more >>

Nucleus (Nucleus (Austin, Tex.))
[2021, 12(1):1-5]

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Clinical relevance of neutrophil-to-lymphocyte ratio and mean platelet volume in pediatric Henoch-Schonlein Purpura: a meta-analysis.

Bowen Li, Qian Ren, Jizu Ling, Zhongbin Tao, Xuemei Yang, Yuning Li,

The association of neutrophil-to-lymphocyte ratio (NLR) and mean platelet volume (MPV) with the severe gastrointestinal (GI) involvement in pediatric Henoch-Schonlein Purpura (HSP) has been reported in many studies. However, the conclusions from the previous studies were controversial. Therefore, for the first time, we performed a meta-analysis to systematically evaluate the ... Read more >>

Bioengineered (Bioengineered)
[2021, 12(1):286-295]

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The involvement of the Candida glabrata trehalase enzymes in stress resistance and gut colonization.

Mieke Van Ende, Bea Timmermans, Giel Vanreppelen, Sofía Siscar-Lewin, Daniel Fischer, Stefanie Wijnants, Celia Lobo Romero, Saleh Yazdani, Ona Rogiers, Liesbeth Demuyser, Griet Van Zeebroeck, Yuke Cen, Karl Kuchler, Sascha Brunke, Patrick Van Dijck,

<i>Candida glabrata</i> is an opportunistic human fungal pathogen and is frequently present in the human microbiome. It has a high relative resistance to environmental stresses and several antifungal drugs. An important component involved in microbial stress tolerance is trehalose. In this work, we characterized the three <i>C. glabrata</i> trehalase enzymes ... Read more >>

Virulence (Virulence)
[2021, 12(1):329-345]

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Eight-hour medication-assisted treatment waiver training for opioid use disorder: integration into medical school curriculum.

Irvin C Lien, Randell Seaton, Aaron Szpytman, Jody Chou, Victoria Webber, Eva Waineo, DianeL Levine,

<b>Background</b>: The opioid epidemic is a growing problem in the USA. Use of medication-assisted treatment (MAT) has been effective in treating patients with opioid use disorders (OUD) and maintaining sobriety; however, there is a significant shortage of physicians formally trained in MAT. <b>Objective</b>: Wayne State University School of Medicine integrated ... Read more >>

Med Educ Online (Medical education online)
[2021, 26(1):1847755]

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Up-regulated miR-155 is associated with poor prognosis in childhood acute lymphoblastic leukemia and promotes cell proliferation targeting ZNF238.

Cong Liang, Yu Li, Li-Na Wang, Xiao-Li Zhang, Jie-Si Luo, Chun-Jin Peng, Wen-Yan Tang, Li-Bin Huang, Yan-Lai Tang, Xue-Qun Luo,

<h4>Objectives</h4>Acute lymphoblastic leukemia (ALL) is one of the most common malignancies in children. Our aim was to identify a novel miRNA that can predict prognosis of childhood ALL patients and explore its potential mechanism.<h4>Methods</h4>The miRNA expression profiles of childhood ALL were analyzed using GEO database and HiSeq instruments. The expression ... Read more >>

Hematology (Hematology (Amsterdam, Netherlands))
[2021, 26(1):16-25]

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The physician healer track: educating the hearts and the minds of future physicians.

Era Buck, Travis Billingsley, Julie McKee, Gwyn Richardson, Cara Geary,

Calls to reform medical education recommend explicit training in professional identity formation to promote the development of humanistic, compassionate physicians. The authors report their experience offering The Physician Healer Track, a 500-contact-hour curricula integrated over 4 years, focusing on self-awareness, reflection, being-with-suffering, communication and professional identity development. The voluntary scholarly-concentration ... Read more >>

Med Educ Online (Medical education online)
[2021, 26(1):1844394]

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Influence of early-life body mass index and systolic blood pressure on left ventricle in adulthood - the Cardiovascular Risk in Young Finns Study.

Jarkko S Heiskanen, Jussi A Hernesniemi, Saku Ruohonen, Nina Hutri-Kähönen, Mika Kähönen, Eero Jokinen, Päivi Tossavainen, Merja Kallio, Tomi Laitinen, Terho Lehtimäki, Jorma Viikari, Markus Juonala, Jaakko Nevalainen, Olli T Raitakari,

<h4>Background</h4>Increased left ventricular mass (LVM) predicts cardiovascular events and mortality. The objective of this study was to determine whether early-life exposures to body mass index (BMI) and systolic blood pressure (SPB) affects the left ventricular structure in adulthood.<h4>Methods</h4>We used longitudinal data from a 31-year follow-up to examine the associations between ... Read more >>

Ann Med (Annals of medicine)
[2021, 53(1):160-168]

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Diagnostic value of TWEAK for predicting active lupus nephritis in patients with systemic lupus erythematosus: a systematic review and meta-analysis.

Hao-Yang Ma, Shuang Chen, Wei-Dong Cao, Cui-Ting Min,

<h4>Purpose</h4>Accumulative studies showed that tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK) was up-regulated in the blood and urine from patients diagnosed with lupus nephritis (LN) and that it might be used as a novel biomarker for active LN. This meta-analysis aimed to determine the diagnostic value of TWEAK ... Read more >>

Ren Fail (Renal failure)
[2021, 43(1):20-31]

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Dynamic glial response and crosstalk in demyelination-remyelination and neurodegeneration processes.

Tianci Chu, Lisa B E Shields, Wenxin Zeng, Yi Ping Zhang, Yuanyi Wang, Gregory N Barnes, Christopher B Shields, Jun Cai,

Multiple sclerosis is an autoimmune disease in which the immune system attacks the myelin sheath in the central nervous system. It is characterized by blood-brain barrier dysfunction throughout the course of multiple sclerosis, followed by the entry of immune cells and activation of local microglia and astrocytes. Glial cells (microglia, ... Read more >>

Neural Regen Res (Neural regeneration research)
[2021, 16(7):1359-1368]

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Serum Ferritin as a Diagnostic Biomarker for Kawasaki Disease.

Sung Hoon Kim, Eun Song Song, Somy Yoon, Gwang Hyeon Eom, Gaeun Kang, Young Kuk Cho,

Diagnosis of Kawasaki disease (KD) is occasionally delayed because it is solely based on clinical symptoms. Previous studies have attempted to identify diagnostic biomarkers for KD. Recently, patients with KD were reported to have elevated serum ferritin levels. We investigated the usefulness of the serum ferritin level as a diagnostic ... Read more >>

Ann Lab Med (Annals of laboratory medicine)
[2021, 41(3):318-322]

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Acute severe respiratory syndrome coronavirus-2 treatment overview for pediatrics.

Mark E Murphy, Gwendolyn Clay, Lara Danziger-Isakov, Grant Schulert, Grant C Paulsen,

<h4>Purpose of review</h4>The novel severe respiratory syndrome coronavirus-2 (SARS-CoV-2) virus has caused a world-wide pandemic with devastating effects. Fortunately, most children display only mild-to-moderate symptoms, but there are a subset that will have severe symptoms warranting treatment. This review evaluates the current evidence for antiviral and anti-inflammatory treatment of acute ... Read more >>

Curr Opin Pediatr (Current opinion in pediatrics)
[2021, 33(1):129-135]

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A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.

Cha Gon Lee, Chang-Seok Ki,

Ann Lab Med (Annals of laboratory medicine)
[2021, 41(3):350-353]

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Sustained Improvement in Tracheal Intubation Safety Across a 15-Center Quality-Improvement Collaborative: An Interventional Study From the National Emergency Airway Registry for Children Investigators.

Akira Nishisaki, Anthony Lee, Simon Li, Ronald C Sanders, Calvin A Brown, Kyle J Rehder, Natalie Napolitano, Vicki L Montgomery, Michelle Adu-Darko, G Kris Bysani, Ilana Harwayne-Gidansky, Joy D Howell, Sholeen Nett, Alberto Orioles, Matthew Pinto, Asha Shenoi, David Tellez, Serena P Kelly, Melinda Register, Keiko Tarquinio, Dennis Simon, Conrad Krawiec, Justine Shults, Vinay Nadkarni, ,

<h4>Objectives</h4>To evaluate the effect of a tracheal intubation safety bundle on adverse tracheal intubation-associated events across 15 PICUs.<h4>Design</h4>Multicenter time-series study.<h4>Setting</h4>PICUs in the United States.<h4>Patients</h4>All patients received tracheal intubations in ICUs.<h4>Interventions</h4>We implemented a tracheal intubation safety bundle as a quality-improvement intervention that includes: 1) quarterly site benchmark performance report and 2) ... Read more >>

Crit Care Med (Critical care medicine)
[2021, 49(2):250-260]

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TP53-induced glycolysis and apoptosis regulator alleviates hypoxia/ischemia-induced microglial pyroptosis and ischemic brain damage.

Lan-Lan Tan, Xiao-Lu Jiang, Li-Xiao Xu, Gen Li, Chen-Xi Feng, Xin Ding, Bin Sun, Zheng-Hong Qin, Zu-Bin Zhang, Xing Feng, Mei Li,

Our previous studies have demonstrated that TP53-induced glycolysis and apoptosis regulator (TIGAR) can protect neurons after cerebral ischemia/reperfusion. However, the role of TIGAR in neonatal hypoxic-ischemic brain damage (HIBD) remains unknown. In the present study, 7-day-old Sprague-Dawley rat models of HIBD were established by permanent occlusion of the left common ... Read more >>

Neural Regen Res (Neural regeneration research)
[2021, 16(6):1037-1043]

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Predictive Models of Neurodevelopmental Outcomes After Neonatal Hypoxic-Ischemic Encephalopathy.

Eric S Peeples, Rakesh Rao, Maria L V Dizon, Yvette R Johnson, Priscilla Joe, John Flibotte, Tanzeema Hossain, Danielle Smith, Shannon Hamrick, Robert DiGeronimo, Girija Natarajan, Kyong-Soon Lee, Toby D Yanowitz, Ulrike Mietzsch, Tai-Wei Wu, Nathalie L Maitre, Eugenia K Pallotto, Mark Speziale, Amit M Mathur, Isabella Zaniletti, An Massaro, ,

<h4>Objectives</h4>To develop predictive models for death or neurodevelopmental impairment (NDI) after neonatal hypoxic-ischemic encephalopathy (HIE) from data readily available at the time of NICU admission ("early") or discharge ("cumulative").<h4>Methods</h4>In this retrospective cohort analysis, we used data from the Children's Hospitals Neonatal Consortium Database (2010-2016). Infants born at ≥35 weeks' gestation ... Read more >>

Pediatrics (Pediatrics)
[2021, :]

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Perspectives from the Society for Pediatric Research: advice on sustaining science and mentoring during COVID-19.

Catherine S Forster, Suong T Nguyen, Weston T Powell, Daniel J Moore, Jacqueline Ho, Melvin B Heyman, Tara L Wenger, Fernando Gonzalez, Margaret Hostetter, Andrew Nowalk, Caroline E Rassbach, Debra Boyer, Pnina Weiss, Rebecca L Blankenburg, Jordan S Orange, Kate G Ackerman, Audrea M Burns, ,

The COVID-19 pandemic will leave an indelible mark on the careers of current medical trainees. Given the disruptions to medical education, economic impact on institutions, and the uncertainties around future job prospects, trainees are facing unprecedented challenges. This situation is especially concerning for futures of pediatric physician-scientist trainees, where concerns ... Read more >>

Pediatr Res (Pediatric research)
[2021, :]

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Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea.

Ho Namgoong, Chang-Seok Ki, Hyesun Hyun, Il Han Yoo, Won Kyoung Cho, Jung Hyun Lee, Jin-Hee Oh,

Ann Lab Med (Annals of laboratory medicine)
[2021, 41(3):346-349]

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Global health disparities in childhood cancers.

Joseph Lubega, Robert L Kimutai, Murali M Chintagumpala,

<h4>Purpose of review</h4>The high cure rates of children with cancer in high-income countries (HICs) are due to the impact of biomedical innovations on children with highly fatal diseases. We discuss why these innovations have not benefitted most children with cancer globally and propose broad strategies to reduce these disparities.<h4>Recent findings</h4>Over ... Read more >>

Curr Opin Pediatr (Current opinion in pediatrics)
[2021, 33(1):33-39]

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Phone It In: A Medical Student Primer on Telemedicine Consultation in Pediatrics

Lauren M. McDaniel, Matthew Molloy, Daniel J. Hindman, Suzanne R. Kochis, W. Christopher Golden, Amit K. Pahwa, Tina Kumra,

<h4>Introduction</h4> Telephone triage requires a unique skillset that is not universally taught in medical school. This curriculum was developed to introduce third- and fourth-year medical students participating in their pediatrics core clerkship to the benefits, challenges, and mechanics of telephone triage. <h4>Methods</h4> After completing a presession textbook reading and listening ... Read more >>

MedEdPORTAL (MedEdPORTAL : the journal of teaching and learning resources)
[0, 17:]

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Unrelenting lumbar pain in a female adolescent: Answers.

Agustina Alonso, Gonzalo Anés, Ana Vivanco-Allende, Ana Menezes, Miguel Hevia, Fernando Santos,

Pediatr Nephrol (Pediatric nephrology (Berlin, Germany))
[2021, 36(2):309-312]

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