477,312 results match your criteria Paediatric and Perinatal Epidemiology[Journal]


Transcriptomic Data Mining and Repurposing for Computational Drug Discovery.

Methods Mol Biol 2019 ;1903:73-95

Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Conventional drug discovery in general is costly and time-consuming with extremely low success and relatively high attrition rates. The disparity between high cost of drug discovery and vast unmet medical needs resulted in advent of an increasing number of computational approaches that can "connect" disease with a candidate therapeutic. This includes computational drug repurposing or repositioning wherein the goal is to discover a new indication for an approved drug. Read More

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January 2019
1 Read

Pediatric Thrombotic Events: Incidence, Clinical Risk Factors and Outcome.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Neonatology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, 605006, India.

Objective: To study the incidence, clinical risk factors and outcome of thrombotic events in pediatric age group of 1 mo-12 y.

Methods: This prospective observational study was conducted in a tertiary care institute from September 2015 through October 2017. Forty nine children with thrombosis from 1 mo-12 y were enrolled. Read More

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December 2018
1 Read

Hypoglycemic Profile of Exclusively Breastfed Low Birth Weight Neonates.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Tata Motors Hospital, Jamshedpur, Jharkhand, India.

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December 2018
1 Read

Performance on Paladai Feeding of Preterm Infants with Bronchopulmonary Dysplasia.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Division of Neonatology, Department of Pediatrics, Newborn Health Knowledge Centre, All India Institute of Medical Sciences, New Delhi, 110029, India.

Objective: To evaluate the feeding performance of infants with bronchopulmonary dysplasia (BPD) on paladai.

Methods: This cross-sectional study was performed in a level III neonatal unit in North India from March through August 2012. Nineteen infants (27-32 wk of gestation) were enrolled; 9 in BPD group (oxygen requirement for at least 28 d) and 10 in 'No BPD' group. Read More

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December 2018
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Serum Retinol, Vitamin D and Zinc Levels in Under Five Children with Acute Lower Respiratory Tract Infections.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Nalanda Medical College, Patna, 800013, India.

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December 2018

Hematopoietic stem cell transplantation for subcutaneous panniculitis-like T-cell lymphoma: single center experience in an Asian population.

Int J Hematol 2018 Dec 13. Epub 2018 Dec 13.

Division of Hematology, Department of Medicine, Taipei Veterans General Hospital, No. 201, Sec 2, Shih-Pai Road, Taipei, 112, Taiwan.

Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is a rare form of cytotoxic T-cell lymphoma. It is believed that SPTL in patients without hemophagocytic syndrome (HPS) follows an indolent course; in contrast, SPTL in patients with HPS has been associated with unfavorable survival. To provide more clinical data on SPTL in Asian populations and to identify optimal therapeutic strategies for SPTL, we assessed the clinicopathological features and long-term follow-up data of 10 Taiwanese SPTL patients diagnosed at a single center. Read More

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December 2018

Differences at surgery between patients with bicuspid and tricuspid aortic valves.

Neth Heart J 2018 Dec 13. Epub 2018 Dec 13.

Department of Cardiology, Amsterdam University Medical Centre, location AMC, Amsterdam, The Netherlands.

Aim: To determine differences in surgical procedures and clinical characteristics at the time of surgery between native bicuspid aortic valves (BAV) and tricuspid aortic valves (TAV) in patients being followed up after aortic valve surgery (AVS).

Methods: In this retrospective cohort study in a non-academic hospital, we identified patients who had a surgeon's report of the number of native valve cusps and were still being followed up. We selected patients with BAV and TAV, and used multivariable regression analyses to identify associations between BAV-TAV and pre-specified clinical characteristics. Read More

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December 2018

Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.

Paediatr Drugs 2018 Dec 13. Epub 2018 Dec 13.

Division of Rheumatology, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.

Background: Arthropathy of Down syndrome (DA) is largely under-recognized, with an average 2-year delay in diagnosis. Most patients present with polyarthritis, and treatment has historically been challenging.

Objectives: Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date. Read More

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December 2018

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

J Clin Immunol 2018 Dec 13. Epub 2018 Dec 13.

Paediatric Immunology Unit, Department of Paediatric Pulmonology, Allergology and Neonatology, Hanover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.

Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. Read More

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December 2018
2 Reads

Functional significance of channelopathy gene variants in unexplained death.

Forensic Sci Med Pathol 2018 Dec 13. Epub 2018 Dec 13.

Pediatrics, NYU School of Medicine, 450 E 29th Street, ACLS 824, New York, NY, 10016, USA.

Determining the cause of unexplained death in all age groups, including infants, is a priority in forensic medicine. The triple risk model proposed for sudden infant death syndrome involves the intersection of three risks: (1) a critical developmental period in homeostatic control (2), exogenous stressors, and (3) a vulnerable infant. Even though sex and age factor into some forms of inherited arrhythmogenic deaths in young individuals and adults, more appropriate a dual-risk disease model for adults involves exogenous stressors and a vulnerable individual. Read More

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December 2018
3 Reads

A review of filamin A mutations and associated interstitial lung disease.

Eur J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Clinical Genetics Department, Our Lady's Children's Hospital, Dublin, Ireland.

The filamin A gene (FLNA) on Xq28 encodes the filamin A protein. Mutation in FLNA causes a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, intellectual disability and intestinal obstruction. Recently, childhood-onset interstitial lung disease associated with a range of FLNA mutations has been recognised and reported. Read More

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December 2018
1 Read

Inhibitory Control and Information Processing in ADHD: Comparing the Dual Task and Performance Adjustment Hypotheses.

J Abnorm Child Psychol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Center for Advancement of Youth, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.

Inhibition is a key neurocognitive domain in ADHD that is commonly assessed with the stop-signal task. The stop-signal involves both "go" and "stop" trials; previous research indicates that response times are reliably slower to "go" trials during tasks with vs. without intermittent "stop" trials. Read More

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December 2018
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Length of Residence and Cardiovascular Health among Afro-Caribbean Immigrants in New York City.

J Racial Ethn Health Disparities 2018 Dec 13. Epub 2018 Dec 13.

Department of Social and Behavioral Sciences, West Virginia University School of Public Health, 64 Medical Center Drive, P.O. Box 9190, Morgantown, WV, 26506-9190, USA.

Cardiovascular disease (CVD) disproportionately affects non-Hispanic blacks (NHB) in the United States (U.S.). Read More

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December 2018
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Fetal Echocardiographic Measures to Improve the Prenatal Diagnosis of Coarctation of the Aorta.

Pediatr Cardiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Pediatric Cardiology, Yale School of Medicine, 333 Cedar St, LLCI 302, New Haven, CT, 06510, USA.

The objective of this study is to identify fetal echocardiographic measures that predict postnatal coarctation of the aorta (CoA). A retrospective review of patients from 2013 to 2017 identified 13 cases of prenatal diagnosis of CoA confirmed postnatally and 14 cases of prenatal diagnosis of CoA with normal arches postnatally. There were 30 controls. Read More

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December 2018
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Practice Variation, Costs and Outcomes Associated with the Use of Inhaled Nitric Oxide in Pediatric Heart Transplant Recipients.

Pediatr Cardiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital, Vanderbilt University, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37232-9119, USA.

Right ventricular (RV) failure is a potentially fatal complication following heart transplantation (HTx). Inhaled nitric oxide (iNO) is a selective pulmonary vasodilator that is used to decrease pulmonary vascular resistance immediately post-HTx to reduce the risk of RV failure. The aim of this study was to describe utilization patterns, costs, and outcomes associated with post-transplant iNO use in children. Read More

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December 2018

Gadolinium-enhanced imaging of pediatric thoracic lymphoma: is intravenous contrast really necessary?

Eur Radiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Diagnostic and Interventional Radiology, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt/Main, Germany.

Objectives: Increasing awareness of potential side effects from gadolinium-based contrast agents has underlined the need for contrast-free magnetic resonance imaging (MRI). Numerous recent articles evaluated the risk of potential brain deposits, with the result that research is putting the focus more on alternative unenhanced imaging techniques. The aim of this study was to determine the need for contrast media for chest MRI in primary staging and follow-up care of lymphoma. Read More

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December 2018
1 Read

Providers' Involvement of Parents, Families, and Family Dynamics in Youth Weight Management Programs.

Glob Pediatr Health 2018 4;5:2333794X18817134. Epub 2018 Dec 4.

East Carolina University, Greenville, NC, USA.

Family-based interventions are the current standard for the treatment of pediatric obesity, yet the details of how providers are involving family members, and the barriers to family involvement, are largely unknown. The objective of this study is to describe how providers in pediatric weight management (PWM) involve family members, identify barriers to family involvement, and how they address challenging family dynamics. A cross-sectional survey was administered to PWM centers/clinics and their providers in the United States and Canada. Read More

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December 2018

Quantification of Infectious Sendai Virus Using Plaque Assay.

Bio Protoc 2018 Nov;8(21)

Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, USA.

Sendai virus (SeV) is an enveloped, single-stranded RNA virus of the family . SeV is a useful tool to study its infectious pathomechanism in immunology and the pathomechanism of a murine model of IgA nephropathy. Virus quantification is essential not only to determine the original viral titers for an appropriate application, but also to measure the viral titers in samples from the harvests from experiments. Read More

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November 2018
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Higher hemoglobin A1C and atherogenic lipoprotein profiles in children and adolescents with type 2 diabetes mellitus.

J Clin Transl Endocrinol 2019 Mar 30;15:30-34. Epub 2018 Nov 30.

Department of Pediatrics/Division of Pediatric Endocrinology and Metabolism, Children's of Alabama, University of Alabama at Birmingham, CPPII M30, 1601 4th Ave S, Birmingham, AL 35233, United States.

Aim: Significant knowledge gaps exist regarding lipoprotein profiles in children with type 2 diabetes mellitus (T2DM). The primary objective was to analyze the type and nature of lipoprotein abnormalities present in children with T2DM and to identify determinants of adverse lipoprotein profiles. The secondary objective was to assess associations with elevated glycated hemoglobin (HbA1C), i. Read More

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Ibrutinib significantly inhibited Bruton's tyrosine kinase (BTK) phosphorylation, proliferation and enhanced overall survival in a preclinical Burkitt lymphoma (BL) model.

Oncoimmunology 2019 11;8(1):e1512455. Epub 2018 Oct 11.

Department of Pediatrics, New York Medical College, Valhalla, NY, USA.

Pediatric and adult patients with recurrent/refractory Burkitt lymphoma (BL) continue to have poor outcomes, emphasizing the need for newer therapeutic agents. Bruton's tyrosine kinase (BTK) is activated following B-cell receptor stimulation and in part regulates normal B-cell development. Ibrutinib, a selective and irreversible BTK inhibitor, has been efficacious in chronic lymphocytic leukemia (CLL), mantle cell lymphoma (MCL), Waldenström's macroglobulinemia, and marginal zone lymphoma. Read More

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October 2018
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Anticancer activity of 2'-hydroxyflavanone towards lung cancer.

Oncotarget 2018 Nov 16;9(90):36202-36219. Epub 2018 Nov 16.

Division of Hematology and Oncology, Department of Internal Medicine, Texas Tech Health Sciences Center, Lubbock, TX 79430, USA.

In previous studies, we found that 2'-hydroxyflavonone (2HF), a citrus flavonoid, inhibits the growth of renal cell carcinoma in a VHL-dependent manner. This was associated with the inhibition of glutathione S-transferases (GSTs), the first step enzyme of the mercapturic acid pathway that catalyzes formation of glutathione-electrophile conjugates (GS-E). We studied 2HF in small cell (SCLC) and non-small cell (NSCLC) lung cancer cell lines for sensitivity to 2HF antineoplastic activity and to determine the role of the GS-E transporter Rlip (Ral-interacting protein; RLIP76; RALBP1) in the mechanism of action of 2HF. Read More

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November 2018
1 Read

MicroRNA-182-5p contributes to the protective effects of thrombospondin 1 against lipotoxicity in INS-1 cells.

Exp Ther Med 2018 Dec 19;16(6):5272-5279. Epub 2018 Oct 19.

Department of Traditional Chinese Medicine, College of Pharmacy, Chengdu University, Chengdu, Sichuan 610106, P.R. China.

The dysfunction of beta cells serves an important role in the pathogenesis of type 2 diabetes mellitus (T2DM). An improved understanding of the molecular mechanisms underlying beta cell mass and failure will be useful for identifying novel approaches toward preventing and treating this disease. Recent studies have indicated that free fatty acids (FFAs) can cause beta cell dysfunction. Read More

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December 2018

Assessment of levels of D-dimer and interferon-γ in pediatric patients with pneumonia and its clinical implication.

Exp Ther Med 2018 Dec 17;16(6):5025-5030. Epub 2018 Oct 17.

The Second Affiliated Hospital of Qiqihar Medical University, Qiqihar, Heilongjiang 161000, P.R. China.

Levels of D-dimer and interferon-γ (INF-γ) in pediatric patients with pneumonia (MPP) were assessed to explore its clinical implication in evaluating the disease severity and patients' prognosis. Enrolled in this study as subjects were 185 pediatric patients with MPP who were admitted to the Department of Pediatrics of the Second Affiliated Hospital of Qiqihar Medical University and the First Hospital of Qiqihar City from January 2017 to October 2017 and 115 healthy children who underwent physical examination during the same time period. Patients were divided into two groups according to the severity of their pneumonia: Severe pneumonia group with 95 patients and mild pneumonia group with 90 patients. Read More

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December 2018

Beta 1, Beta 2 and Beta 3 Adrenergic Receptor Gene Polymorphisms in a Southeastern European Population.

Front Genet 2018 28;9:560. Epub 2018 Nov 28.

Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Zografou, Greece.

Genetic polymorphisms in β-, β- and β-adrenergic receptors (β-ARs) have been associated with chronic non-communicable disorders, such as cardiovascular diseases, asthma, chronic obstructive pulmonary disease (COPD) and obesity, as well as β-agonists and antagonists response and toxicity. The purpose of this study was to determine the frequency distribution of genetic variants Ser49Gly and Arg389Gly, variants Gly16Arg and Gln27Glu, variant Trp64Arg in a Southeastern European Caucasian (SEC) population sample and to establish a comparison with existing data from other human populations. A sample of 431 men and 590 women volunteered to participate in this genotyping analysis after anonymization and de-identification. Read More

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November 2018

The Emerging Role of CD244 Signaling in Immune Cells of the Tumor Microenvironment.

Front Immunol 2018 28;9:2809. Epub 2018 Nov 28.

Division of Immunobiology, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH, United States.

In cancer, immune exhaustion contributes to the immunosuppressive tumor microenvironment. Exhausted immune cells demonstrate poor effector function and sustained expression of certain immunomodulatory receptors, which can be therapeutically targeted. CD244 is a Signaling Lymphocyte Activation Molecule (SLAM) family immunoregulatory receptor found on many immune cell types-including NK cells, a subset of T cells, DCs, and MDSCs-that represents a potential therapeutic target. Read More

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November 2018
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Validation of a Multiplexed Opsonophagocytic Assay for 11 Additional Pneumococcal Serotypes and Its Application to Functional Antibody Evaluation Induced by Pneumococcal Polysaccharide Vaccine.

J Korean Med Sci 2018 Dec 12;33(51):e340. Epub 2018 Dec 12.

Department of Pediatrics, Ewha Womans University College of Medicine, Seoul, Korea.

Background: Various pneumococcal vaccines have been evaluated for immunogenicity by opsonophagocytic assay (OPA). A multiplexed OPA (MOPA) for 13 pneumococcal serotypes was developed by Nahm and Burton, and expanded to 26 serotypes in 2012. The development of new conjugate vaccines with increased valence has necessitated expanded MOPAs to include these additional serotypes. Read More

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December 2018

Prevalence of Pathological Brain Lesions in Girls with Central Precocious Puberty: Possible Overestimation?

J Korean Med Sci 2018 Dec 26;33(51):e329. Epub 2018 Nov 26.

Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea.

Background: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in girls with central precocious puberty (CPP). We aimed to investigate the prevalence and type of brain lesions among Korean girls with CPP and evaluate the need for routine brain MRI examinations.

Methods: This retrospective cross-sectional study evaluated data on 3,528 girls diagnosed with CPP from April 2003 to December 2016, and identified 317 girls who underwent sellar MRI. Read More

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December 2018

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.

J Korean Med Sci 2018 Dec 22;33(51):e324. Epub 2018 Nov 22.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. Read More

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December 2018

Adverse Drug Reaction Onsets in Uganda's VigiBase: Delayed International Visibility, Data Quality and Illustrative Signal Detection Analyses.

Pharmaceut Med 2018 17;32(6):413-427. Epub 2018 Nov 17.

3MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.

Introduction: Developing countries can improve their pharmacovigilance systems by analysing their own medication safety data.

Objective: The aims of this study were to characterize Uganda's reported adverse drug reaction (ADR) onsets in 2012-2015 that were registered on VigiBase by 31 December 2017, to document delays in international visibility and the influence of covariates on this delay from ADR onsets in 2013 + 2014, to examine data quality, and to illustrate analytical approaches for safety data, particularly for patients receiving antiretroviral therapy (ART).

Methods: International delay was defined as elapsed time from complete ADR onset date to entry date on VigiBase, with covariates examined using Cox proportional hazards regression. Read More

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November 2018
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Overweight and obesity in preschool aged children and risk of mental health service utilization.

Int J Obes (Lond) 2018 Dec 13. Epub 2018 Dec 13.

Institute for Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.

Objective: To determine if overweight or obesity in preschool-age children is associated with mental health service utilization in later childhood.

Subjects: Overall, 10,522 children 2 to <5 years, with no previous history of mental health service utilization, were identified from primary care electronic medical records (EMRs) across Ontario, Canada.

Methods: This was a retrospective longitudinal cohort study. Read More

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December 2018
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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Genet Med 2018 Dec 14. Epub 2018 Dec 14.

Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR, USA.

Purpose: Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the recommended range. The availability of pegvaliase (PALYNZIQ™, an enzyme that can metabolize Phe) as a new therapy necessitates the provision of guidance for its use.

Methods: A Steering Committee comprising 17 health-care professionals with experience in using pegvaliase through the clinical development program drafted guidance statements during a series of face-to-face meetings. Read More

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December 2018

A survey on incidence and management of adenovirus infection after allogeneic HSCT.

Bone Marrow Transplant 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatric Hematology and Oncology, University Hospital, Collegium Medicum UMK, Bydgoszcz, Poland.

To determine the current practices on the management of Adenovirus (ADV) infection after allogenic stem cell transplantation, a survey was undertook among EBMT centres. The response rate was 20% (91/446): 46% were adult, 44% were paediatric and 10% were mixed centres, respectively. The overall incidence of ADV infection was 7. Read More

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December 2018

Bacterial blood stream infections (BSIs), particularly post-engraftment BSIs, are associated with increased mortality after allogeneic hematopoietic cell transplantation.

Bone Marrow Transplant 2018 Dec 13. Epub 2018 Dec 13.

Division of Hematology/Oncology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

We analyzed CIBMTR data to evaluate the incidence of non-relapse mortality (NRM) and association with overall survival (OS) for bacterial blood stream infections (BSIs) occurring within 100 days of alloHCT in 2 different phases: pre-/peri-engraftment (BSI very early phase, BSI-VEP) and BSI post-engraftment (BSI occurring between 2 weeks after engraftment and day 100, late early phase, BSI-LEP). Of the 7128 alloHCT patients, 2656 (37%) had ≥1 BSI by day 100. BSI-VEP, BSI-LEP, and BSI-Both constituted 56% (n = 1492), 31% (n = 824), and 13% (n = 340) of total BSI, respectively. Read More

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December 2018

Somatic and germline genomics in paediatric acute lymphoblastic leukaemia.

Nat Rev Clin Oncol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.

Advances in genomic research and risk-directed therapy have led to improvements in the long-term survival and quality of life outcomes of patients with childhood acute lymphoblastic leukaemia (ALL). The application of next-generation sequencing technologies, especially transcriptome sequencing, has resulted in the identification of novel molecular subtypes of ALL with prognostic and therapeutic implications, as well as cooperative mutations that account for much of the heterogeneity in clinical responses observed among patients with specific ALL subtypes. In addition, germline genetic variants have been shown to influence the risk of developing ALL and/or the responses of non-malignant and leukaemia cells to therapy; shared pathways for drug activation and metabolism are implicated in treatment-related toxicity and drug sensitivity or resistance, depending on whether the genetic changes are germline, somatic or both. Read More

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December 2018

Publisher Correction: Early detection of pulmonary exacerbations in children with Cystic Fibrosis by electronic home monitoring of symptoms and lung function.

Sci Rep 2018 Dec 13;8(1):17946. Epub 2018 Dec 13.

Department of Paediatric Respiratory Medicine, School for Public Health and Primary Health Care (CAPHRI), Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. Read More

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December 2018

Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management.

Eur Respir J 2018 Dec 13. Epub 2018 Dec 13.

Center for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Paediatric pulmonary arterial hypertension (PAH) shares common features of adult disease, but is associated with several additional disorders and challenges that require unique approaches. This article discusses recent advances, ongoing challenges and distinct approaches for the care of children with PAH, as presented by the Paediatric Task Force of the 6th World Symposium on Pulmonary Hypertension. We provide updates of the current definition, epidemiology, classification, diagnostics and treatment of paediatric PAH, and identify critical knowledge gaps. Read More

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December 2018

Pathology and pathobiology of pulmonary hypertension: state of the art and research perspectives.

Eur Respir J 2018 Dec 13. Epub 2018 Dec 13.

Cardiovascular Institute, Dept of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

Clinical and translational research has played a major role in advancing our understanding of pulmonary hypertension (PH), including pulmonary arterial hypertension and other forms of PH with severe vascular remodelling ( chronic thromboembolic PH and pulmonary veno-occlusive disease). However, PH remains an incurable condition with a high mortality rate, underscoring the need for a better transfer of novel scientific knowledge into healthcare interventions. Herein, we review recent findings in pathology (with the questioning of the strict morphological categorisation of various forms of PH into pre- or post-capillary involvement of pulmonary vessels) and cellular mechanisms contributing to the onset and progression of pulmonary vascular remodelling associated with various forms of PH. Read More

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December 2018
1 Read

Zinc deficiency causes neural tube defects through attenuation of p53 ubiquitylation.

Development 2018 Dec 13;145(24). Epub 2018 Dec 13.

Department of Pediatrics, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO 80045, USA

Micronutrition is essential for neural tube closure, and zinc deficiency is associated with human neural tube defects. Here, we modeled zinc deficiency in mouse embryos, and used live imaging and molecular studies to determine how zinc deficiency affects neural tube closure. Embryos cultured with the zinc chelator TPEN failed to close the neural tube and showed excess apoptosis. Read More

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December 2018
2 Reads

Replacement of cyclophosphamide/cytarabine/mercaptopurine with cyclophosphamide /etoposide during Consolidation/Delayed Intensification does not improve outcome for pediatric B-ALL: a report from the COG.

Haematologica 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Children Hospital of Philadelphia.

With modern chemotherapy, approximately 90% of patients with pediatric acute lymphoblastic leukemia are now cured. However, subsets of patients can be identified who remain at very high risk of relapse with expected 4-year disease-free survival <80% and are appropriate candidates for intensive therapeutic strategies designed to improve survival. AALL1131 aimed to determine, in a randomized fashion, if the substitution with cyclophosphamide/etoposide (Experimental Arm 1) would improve the 4-year disease-free survival of children, adolescents, and young adults with very high-risk B-cell acute lymphoblastic leukemia compared to a modified Berlin-Frankfurt-Munster regimen (Control Arm). Read More

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December 2018

High-affinity allergen-specific human antibodies cloned from single IgE B cell transcriptomes.

Science 2018 Dec;362(6420):1306-1309

Department of Bioengineering, Stanford University, Stanford, CA 94305, USA.

Immunoglobulin E (IgE) antibodies protect against helminth infections but can also cause life-threatening allergic reactions. Despite their role in human health, the cells that produce these antibodies are rarely observed and remain enigmatic. We isolated single IgE B cells from individuals with food allergies and used single-cell RNA sequencing to elucidate the gene expression and splicing patterns unique to these cells. Read More

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December 2018
1 Read

Comprehensive functional genomic resource and integrative model for the human brain.

Science 2018 Dec;362(6420)

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Read More

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December 2018
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A 17-Year-Old Boy With High-Functioning Autism, Gastrointestinal Illness, and Seizures.

Pediatrics 2018 Dec 13. Epub 2018 Dec 13.

Massachusetts General Hospital, Boston, Massachusetts; and

A healthy 17-year-old boy with a high-functioning pervasive developmental disorder presented to the emergency department after having a 4-minute episode of seizure-like activity in the setting of presumed viral gastroenteritis. Within an hour of emergency department arrival, he developed a forehead-sparing facial droop, right-sided ptosis, and expressive aphasia, prompting stroke team assessment and urgent neuroimaging. Laboratory results later revealed a serum sodium of 119 mmol/L. Read More

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December 2018
1 Read

[«On the 50th anniversary of the Anales de Pediatría, official publication of the Spanish Paediatric Association». Reply].

An Pediatr (Barc) 2018 Dec 10. Epub 2018 Dec 10.

Servicio de Neonatología, Hospital Clínic de Barcelona, Barcelona, España.

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December 2018

Past and anticipated trends in cardiology service requirements at Mater Dei Hospital, Malta.

Early Hum Dev 2018 Dec 10. Epub 2018 Dec 10.

Mater Dei Hospital, Malta. Electronic address:

Introduction: The requirement for medical services fluctuates. This study was carried out in order to attempt to extrapolate the service requirements for various cardiology services at Mater Dei Hospital, Malta over the coming five years, based on service demands from previous years.

Methods: Past annual data was obtained from hospital records for various services (to 2017). Read More

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December 2018

Sex Disparities in ESRD-Related Mortality: A Call to Action.

Authors:
Bethany J Foster

Am J Kidney Dis 2018 Dec 10. Epub 2018 Dec 10.

Montreal Children's Hospital of the McGill University Health Centre; and Departments of Pediatrics and Epidemiology, Biostatistics, and Occupational Health, McGill University, Montreal, Quebec, Canada. Electronic address:

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December 2018

Gender Differences in the Quality of EMS Care Nationwide for Chest Pain and Out-of- Hospital Cardiac Arrest.

Womens Health Issues 2018 Nov 24. Epub 2018 Nov 24.

Milken Institute School of Public Health, George Washington University, Washington, DC. Electronic address:

Background: We sought to determine whether gender disparities exist in the prehospital management of chest pain (CP) or out-of-hospital cardiac arrest (OHCA) among patients who accessed the emergency medical services (EMS) system.

Methods: We obtained 2010-2013 data from the National Emergency Medical Services Information System and identified all EMS activations for CP or OHCA by adults 40 years of age or older. We selected American Heart Association medications and procedures to manage cardiovascular events. Read More

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November 2018

Amygdala functional connectivity is associated with social impairments in preterm born young adults.

Neuroimage Clin 2018 Dec 3. Epub 2018 Dec 3.

Department of Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, CT, USA; Child Study Center, Yale School of Medicine, New Haven, CT, USA. Electronic address:

Survivors of preterm birth experience long-lasting behavioral problems characterized by increased risk of depression, anxiety, and impairments in social functioning. The amygdala is a key region for social functioning and alterations in amygdala structure and connectivity are thought to underlie social functioning deficits in many disorders, including preterm birth. However, functional connectivity of the amygdala and its association with social impairments is not well-studied in preterm participants (PTs). Read More

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December 2018

Influence of Inspiratory/Expiratory CT Registration on Quantitative Air Trapping.

Acad Radiol 2018 Dec 10. Epub 2018 Dec 10.

Department of Radiology, University of Michigan, Ann Arbor, MI 48109. Electronic address:

Rationale And Objectives: The aim of this study was to assess variability in quantitative air trapping (QAT) measurements derived from spatially aligned expiration CT scans.

Materials And Methods: Sixty-four paired CT examinations, from 16 school-age cystic fibrosis subjects examined at four separate time intervals, were used in this study. For each pair, visually inspected lobe segmentation maps were generated and expiration CT data were registered to the inspiration CT frame. Read More

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December 2018