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    1577 results match your criteria Pediatrics Fifth Disease or Erythema Infectiosum

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    Severe Aplastic Anemia following Parvovirus B19-Associated Acute Hepatitis.
    Case Reports Hepatol 2017 20;2017:1359486. Epub 2017 Apr 20.
    Third Department of Internal Medicine, Nara Medical University, Kashihara, Nara, Japan.
    Human parvovirus (HPV) B19 is linked to a variety of clinical manifestations, such as erythema infectiosum, nonimmune hydrops fetalis, and transient aplastic anemia. Although a few cases have shown HPVB19 infection as a possible causative agent for hepatitis-associated aplastic anemia (HAAA) in immunocompetent patients, most reported cases of HAAA following transient hepatitis did not have delayed remission. Here we report a rare case of severe aplastic anemia following acute hepatitis with prolonged jaundice due to HPVB19 infection in a previously healthy young male. Read More

    Tumor treating fields in pediatric high-grade glioma.
    Childs Nerv Syst 2017 May 3. Epub 2017 May 3.
    Program in Neuro-Oncology, Center for Cancer and Blood Disorders, Children's Hospital Colorado, 12800 E. 19th Ave. RC1-N, Mail Stop 8302, Aurora, CO, 80045, USA.
    Purpose: Tumor treating fields (TTF) are alternating electric fields applied continuously to the scalp. The treatment is approved for both primary and recurrent supratentorial adult glioblastoma but unstudied in children.

    Methods: We report a feasibility case series of five pediatric high-grade glioma patients (ages 10-20 years) treated at our institution with TTF along with chemotherapy and/or radiation. Read More

    A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.
    Nat Commun 2017 Apr 20;8:14828. Epub 2017 Apr 20.
    Department of Gastroenterology and Hepatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute of Digestive Disease, Shanghai 200001, China.
    Primary biliary cholangitis (PBC) is an autoimmune liver disease with a strong hereditary component. Here, we report a genome-wide association study that included 1,122 PBC cases and 4,036 controls of Han Chinese descent, with subsequent replication in a separate cohort of 907 PBC cases and 2,127 controls. Our results show genome-wide association of 14 PBC risk loci including previously identified 6p21 (HLA-DRA and DPB1), 17q12 (ORMDL3), 3q13. Read More

    Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors.
    Cancer 2017 Apr 7. Epub 2017 Apr 7.
    Department of Global Medicine, International Outreach Program, St Jude Children's Research Hospital, Memphis, Tennessee.
    Background: The tumor protein p53 (TP53) arginine-to-histidine mutation at codon 337 (R337H) predisposes children to adrenocortical tumors (ACTs) and, rarely, to other childhood tumors, but its impact on adult cancer remains undetermined. The objective of this study was to investigate the frequency and types of cancer in relatives of children with ACT who carry the TP53 R337H mutation.

    Methods: TP53 R337H testing was offered to relatives of probands with ACT. Read More

    NLRP3 Deficiency Attenuates Renal Fibrosis and Ameliorates Mitochondrial Dysfunction in a Mouse Unilateral Ureteral Obstruction Model of Chronic Kidney Disease.
    Mediators Inflamm 2017 28;2017:8316560. Epub 2017 Feb 28.
    Division of Nephrology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiaotong University, 639 Zhizaoju Road, Shanghai 200011, China.
    Background and Aims. The nucleotide-binding domain and leucine-rich repeat containing PYD-3 (NLRP3) inflammasome has been implicated in the pathogenesis of chronic kidney disease (CKD); however, its exact role in glomerular injury and tubulointerstitial fibrosis is still undefined. The present study was performed to identify the function of NLRP3 in modulating renal injury and fibrosis and the potential involvement of mitochondrial dysfunction in the murine unilateral ureteral obstruction (UUO) model of CKD. Read More

    sRAGE Is Elevated in the Lungs of Premature Infants Receiving Mechanical Ventilation.
    Am J Perinatol 2017 Mar 20. Epub 2017 Mar 20.
    Division of Neonatal Medicine, Department of Pediatrics, University of Mississippi, Jackson, Mississippi.
    Background Soluble receptor for advanced glycation end-products (sRAGE), a soluble isoform of the RAGE receptor, is elevated in lungs from patients with acute conditions such as acute respiratory distress syndrome and bronchiolitis. This study investigated whether sRAGE is present in ventilated infants. Methods Tracheal aspirates from the first week or the fifth week of life were obtained from intubated very low birth weight subjects and analyzed by Western blot. Read More

    Methodology and Early Findings of the Fifth Survey of Childhood and Adolescence Surveillance and Prevention of Adult Noncommunicable Disease: The CASPIAN-V Study.
    Int J Prev Med 2017 23;8. Epub 2017 Jan 23.
    Department of Pediatrics, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
    Background: This paper presents the methodology and early findings of the fifth survey of a school-based surveillance program in Iran.

    Methods: This nationwide study was conducted in 2015 as the fifth survey of a surveillance program entitled "Childhood and Adolescence Surveillance and PreventIon of Adult Non- communicable disease" (CASPIAN-V) study. The protocol was mainly based on the World Health Organization-Global School student Health Survey. Read More

    Risk Factors for Health Care-Associated Bloodstream Infections in a Neonatal Intensive Care Unit.
    Iran J Pediatr 2016 Oct 27;26(5):e5213. Epub 2016 Jul 27.
    Clinical Microbiology and Infectious Disease, Medical Faculty, Dicle University, Diyarbakir, Turkey.
    Background: Healthcare-associated bloodstream infections (HCA-BSI) are a major cause of morbidity and mortality in neonatal intensive care units (NICUs).

    Objectives: We aimed to determine the causative organisms and risk factors of HCA-BSIs in NICUs.

    Methods: This study was performed between January 2011 and December 2014 in the neonatal intensive care unit of Dicle university, Turkey. Read More

    Ischemic stroke in Kawasaki disease.
    Pediatr Int 2017 Jan;59(1):92-96
    Division of Pediatric Cardiology, Department of Pediatrics, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    Pediatric stroke is considered to be rare. Stroke resulting from cerebral vasculitis is also uncommon in young children. With the increasing prevalence of Kawasaki disease (KD) diagnosis, this acquired vasculitis has been reported with various clinical presentations including neurological symptoms. Read More

    Novel genetic loci associated with hippocampal volume.
    Nat Commun 2017 Jan 18;8:13624. Epub 2017 Jan 18.
    Department of Epidemiology, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands.
    The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Read More

    Short-acting erythropoiesis-stimulating agents for anaemia in predialysis patients.
    Cochrane Database Syst Rev 2017 01 9;1:CD011690. Epub 2017 Jan 9.
    Sydney School of Public Health, The University of Sydney, Edward Ford Building A27, Sydney, NSW, Australia, 2006.
    Background: The benefits of erythropoiesis-stimulating agents (ESA) for chronic kidney disease (CKD) patients have been previously demonstrated. However, the efficacy and safety of short-acting epoetins administered at larger doses and reduced frequency as well as of new epoetins and biosimilars remains uncertain.

    Objectives: This review aimed to evaluate the benefits and harms of different routes, frequencies and doses of epoetins (epoetin alpha, epoetin beta and other short-acting epoetins) for anaemia in adults and children with CKD not receiving dialysis. Read More

    Congenital miliary tuberculosis in an 18-day-old boy.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S64-S67. Epub 2016 Nov 30.
    Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.; Allergy and Immunology Center, Korea University, Seoul, Korea.
    Congenital tuberculosis (TB) is a rare disease that is associated with high mortality. Mycobacterium tuberculosis, the causative agent, may be transmitted from the infected mother to the fetus by the transplacental route or by aspiration of infected amniotic fluid. Clinical symptoms and signs are not specific. Read More

    Screening of renal dysfunction among Burkitt lymphoma survivors by novel markers.
    Hematology 2017 Jun 16;22(5):265-273. Epub 2016 Dec 16.
    a Faculty of Medicine , Zagazig University , Egypt.
    Background: Burkitt lymphoma (BL) represents the most common pathological type of non-Hodgkin lymphoma in our region. Recently, high success rates have been achieved in BL treatment. Little is known about long-term renal dysfunction in this vulnerable group. Read More

    Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation.
    JIMD Rep 2016 Dec 9. Epub 2016 Dec 9.
    Robarts Research Institute and Department of Medicine, Schulich School of Medicine, Western University, London, ON, Canada, N6A 5B7.
    Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Read More

    Molecular diversity of human parvovirus B19 during two outbreaks of erythema infectiosum in Brazil.
    Braz J Infect Dis 2017 Jan - Feb;21(1):102-106. Epub 2016 Nov 30.
    Universidade Federal Fluminense, Faculdade de Medicina, Programa de Pós Graduação em Ciências Médicas, Niterói, RJ, Brazil; Universidade Federal Fluminense, Faculdade de Medicina, Disciplina de Doenças Infecciosas e Parasitárias, Niterói, RJ, Brazil.
    This study was conducted to provide information on the genetic diversity of human parvovirus B19 (B19V) circulating in the municipality of Niterói, Rio de Janeiro, Southeast Brazil during 1996-2006, a period with two distinct outbreaks of B19V infection: 1999-2000 and 2004-2005. A total of 27 sera from patients with erythema infectiosum and five sera from HIV-infected patients that tested positive for B19V DNA during the study period were analyzed. To genotype B19V strains, a semi-nested PCR for partial amplification of the capsid gene was performed and sequence analysis revealed that 31 sequences belonged to subgenotype 1a (G1a) of the main genotype 1 and one sequence was characterized as subgenotype 3b (G3b). Read More

    Combining Cell and Gene Therapy in an Effort to Eradicate HIV.
    AIDS Patient Care STDS 2016 Dec;30(12):534-538
    1 Department of Pediatrics, University of Washington , Seattle, Washington.
    More than 30 million people are infected with HIV, and HIV remains the fifth leading cause of disability-adjusted life years worldwide. Antiretroviral therapy (ART) dramatically decreases mortality rate, but there are side effects, long-term toxicities, expenses, stigmas, and inconveniences associated with chronic treatment, and HIV-infected individuals on ART have an increased risk of malignancies, cardiovascular disease, neurologic disease, and shortened life expectancy. Therefore, a cure for HIV remains an important goal. Read More

    DNA Binding and Cleavage by the Human Parvovirus B19 NS1 Nuclease Domain.
    Biochemistry 2016 Nov 17;55(47):6577-6593. Epub 2016 Nov 17.
    Department of Chemistry and Biochemistry, University of Arizona , Tucson, Arizona 85721, United States.
    Infection with human parvovirus B19 (B19V) has been associated with a myriad of illnesses, including erythema infectiosum (Fifth disease), hydrops fetalis, arthropathy, hepatitis, and cardiomyopathy, and also possibly the triggering of any number of different autoimmune diseases. B19V NS1 is a multidomain protein that plays a critical role in viral replication, with predicted nuclease, helicase, and gene transactivation activities. Herein, we investigate the biochemical activities of the nuclease domain (residues 2-176) of B19V NS1 (NS1-nuc) in sequence-specific DNA binding of the viral origin of replication sequences, as well as those of promoter sequences, including the viral p6 and the human p21, TNFα, and IL-6 promoters previously identified in NS1-dependent transcriptional transactivation. Read More

    Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.
    J Biol Chem 2016 Dec 25;291(50):26126-26137. Epub 2016 Oct 25.
    From the MitoCare Center for Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107,
    The relevance of mitochondrial phosphate carrier (PiC), encoded by SLC25A3, in bioenergetics is well accepted. However, little is known about the mechanisms mediating the cellular impairments induced by pathological SLC25A3 variants. To this end, we investigated the pathogenicity of a novel compound heterozygous mutation in SLC25A3 First, each variant was modeled in yeast, revealing that substituting GSSAS for QIP within the fifth matrix loop is incompatible with survival on non-fermentable substrate, whereas the L200W variant is functionally neutral. Read More

    The Economic Burden of Road Traffic Injuries on Households in South Asia.
    PLoS One 2016 21;11(10):e0164362. Epub 2016 Oct 21.
    Nossal Institute for Global Health, The University of Melbourne, 161 Barry Street, 4th Floor, Carlton, VIC 3053, Australia.
    Globally, road traffic injuries accounted for about 1.36 million deaths in 2015 and are projected to become the fourth leading cause of disability-adjusted life years (DALYs) lost by 2030. One-fifth of these deaths occurred in South Asia where road traffic injuries are projected to increase by 144% by 2020. Read More

    The VP1u Receptor Restricts Parvovirus B19 Uptake to Permissive Erythroid Cells.
    Viruses 2016 Sep 28;8(10). Epub 2016 Sep 28.
    Department of Chemistry and Biochemistry, University of Bern, Bern 3012, Switzerland.
    Parvovirus B19 (B19V) is a small non-enveloped virus and known as the causative agent for the mild childhood disease erythema infectiosum. B19V has an extraordinary narrow tissue tropism, showing only productive infection in erythroid precursor cells in the bone marrow. We recently found that the viral protein 1 unique region (VP1u) contains an N-terminal receptor-binding domain (RBD), which mediates the uptake of the virus into cells of the erythroid lineage. Read More

    Socioeconomic inequality in oral health behavior in Iranian children and adolescents by the Oaxaca-Blinder decomposition method: the CASPIAN- IV study.
    Int J Equity Health 2016 Sep 14;15(1):143. Epub 2016 Sep 14.
    Department of Community Medicine, School of Medicine, Alborz University of Medical Science, Karaj, Iran.
    Background: The present study set to describe the socioeconomic inequality associated with oral hygiene behavior among Iranian pediatric population.

    Methods: A representative sample of 13486 school students aged 6-18 years was selected through multistage random cluster sampling method from urban and rural areas of 30 provinces in Iran. Principle Component Analyses (PCA) correlated variables summarized as socioeconomic status (SES). Read More

    Estimation of the number of people with Down syndrome in the United States.
    Genet Med 2017 Apr 8;19(4):439-447. Epub 2016 Sep 8.
    Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
    Purpose: An accurate accounting of persons with Down syndrome (DS) has remained elusive because no population-based registries exist in the United States. The purpose of this study was to estimate this population size by age, race, and ethnicity.

    Methods: We predicted the number of people with DS in different age groups for different calendar years using estimations of the number of live births of children with DS from 1900 onward and constructing DS-specific mortality rates from previous studies. Read More

    Abnormal body composition, cardiovascular endurance, and muscle strength in pediatric SLE.
    Pediatr Rheumatol Online J 2016 Sep 5;14(1):50. Epub 2016 Sep 5.
    University of Alabama at Birmingham School of Public Health, 1720 2nd Avenue South, RPHB 214C, Birmingham, AL, 35294, USA.
    Background: Children with SLE are known to have higher fat mass compared to their peers but there are no published data regarding exercise capacity as measured by cardiovascular endurance and muscle strength. In our pilot study of ten children with SLE, we sought to examine body composition, cardiovascular endurance, and isometric muscle strength.

    Findings: Ten pediatric SLE patients were studied with a mean age of 15. Read More

    Evaluation of the Global Lung Initiative 2012 Reference Values for Spirometry in African Children.
    Am J Respir Crit Care Med 2017 Jan;195(2):229-236
    7 Department of Pulmonary Diseases and.
    Rationale: Despite the high burden of respiratory disease, no spirometry reference values for African children are available.

    Objectives: Investigate whether the Global Lung Initiative (GLI-2012) reference values for spirometry are appropriate for children in sub-Saharan Africa and assess the impact of malnutrition on lung function.

    Methods: Anthropometry and spirometry were obtained in children aged 6 to 12 years from urban and semiurban schools in three African countries. Read More

    Racial and Ethnic Disparities in ADHD Diagnosis and Treatment.
    Pediatrics 2016 Sep 23;138(3). Epub 2016 Aug 23.
    RAND, Santa Monica, California; Division of General Pediatrics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts;
    Objectives: We examined racial/ethnic disparities in attention-deficit/hyperactivity disorder (ADHD) diagnosis and medication use and determined whether medication disparities were more likely due to underdiagnosis or undertreatment of African-American and Latino children, or overdiagnosis or overtreatment of white children.

    Methods: We used a population-based, multisite sample of 4297 children and parents surveyed over 3 waves (fifth, seventh, and 10th grades). Multivariate logistic regression examined disparities in parent-reported ADHD diagnosis and medication use in the following analyses: (1) using the total sample; (2) limited to children with an ADHD diagnosis or symptoms; and (3) limited to children without a diagnosis or symptoms. Read More

    Effectiveness of a comprehensive integrated module using interactive lectures and workshops in understanding and knowledge retention about infant feeding practice in fifth year medical students: a quasi-experimental study.
    BMC Med Educ 2016 Aug 18;16(1):210. Epub 2016 Aug 18.
    Division of Nutrition and Metabolic Disease, Department of Pediatrics, Cipto Mangukusumo Hospital / Faculty of Medicine, Universitas Indonesia, Jl. Diponegoro 71, Jakarta, 10430, Indonesia.
    Background: Sixty percent of the 10.9 million under-5 deaths every year are related to malnutrition. More than two thirds of malnutrition is caused by inappropriate infant feeding practice. Read More

    Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.
    Am J Med Genet A 2016 Dec 11;170(12):3249-3252. Epub 2016 Aug 11.
    Department of Neurology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
    Mutations in the BAF complex (mammalian SWI/SNF complex) are responsible for Coffin-Siris syndrome, which is characterized by developmental delay, distinctive facial features, hirsutism, and hypoplasia/aplasia of the fifth finger/fingernails. Hirschsprung disease is characterized by defective stem cells in the enteric neural system, and the involvement of multiple signaling cascades has been implicated. So far, the roles of the BAF complex in the genesis of Hirschsprung disease have remained unknown. Read More

    Adiposity influences airway wall thickness and the asthma phenotype of HIV-associated obstructive lung disease: a cross-sectional study.
    BMC Pulm Med 2016 Aug 4;16(1):111. Epub 2016 Aug 4.
    Department of Medicine, University of Pittsburgh, Pittsburgh, USA.
    Background: Airflow obstruction, which encompasses several phenotypes, is common among HIV-infected individuals. Obesity and adipose-related inflammation are associated with both COPD (fixed airflow obstruction) and asthma (reversible airflow obstruction) in HIV-uninfected persons, but the relationship to airway inflammation and airflow obstruction in HIV-infected persons is unknown. The objective of this study was to determine if adiposity and adipose-associated inflammation are associated with airway obstruction phenotypes in HIV-infected persons. Read More

    Social Determinants of Health Are Associated with Modifiable Risk Factors for Cardiovascular Disease and Vascular Function in Pediatric Type 1 Diabetes.
    J Pediatr 2016 Oct 29;177:167-72. Epub 2016 Jul 29.
    Department of Pediatrics, The Hospital for Sick Children & University of Toronto, Toronto, Ontario, Canada. Electronic address:
    Objective: To evaluate the relationship between social determinants of health (SDH) and cardiovascular disease (CVD) risk factors as well as a measure of arterial stiffness in adolescents with type 1 diabetes (T1D).

    Study Design: SDH were measured with the validated Ontario Marginalization Index, derived from deidentified postal code data and stratified by quintile (first  = least deprived; fifth = most deprived). SDH dimensions included material deprivation; ethnic concentration; and measures of dependency and residential instability. Read More

    Diagnostic and prognostic value of molecular and serological investigation of human parvovirus B19 infection during pregnancy.
    New Microbiol 2016 Jul 10;39(3):181-185. Epub 2016 Jun 10.
    Molecular Virology Unit, Microbiology and Virology Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
    To define diagnostic and prognostic markers of parvovirus B19 (B19V) fetal infection, two groups were investigated: 1) pregnant women with specific symptoms or contacts with symptomatic households (n=37); 2) mothers with pathological ultrasound findings and the relevant fetus at the time of prenatal diagnosis (n=16). In the first group, diagnosis of B19V infection was achieved using IgM detection in 29/37 (78.3%) of patients, while B19V DNA was detected in 36/37 (97. Read More

    Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.
    Diabetes 2016 Oct 14;65(10):3200-11. Epub 2016 Jul 14.
    Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA Department of Medicine, Harvard Medical School, Boston, MA.
    Genome-wide association studies (GWAS) have found few common variants that influence fasting measures of insulin sensitivity. We hypothesized that a GWAS of an integrated assessment of fasting and dynamic measures of insulin sensitivity would detect novel common variants. We performed a GWAS of the modified Stumvoll Insulin Sensitivity Index (ISI) within the Meta-Analyses of Glucose and Insulin-Related Traits Consortium. Read More

    Bullous Scabies.
    Am J Trop Med Hyg 2016 Sep 11;95(3):689-93. Epub 2016 Jul 11.
    Department of Dermatology, Maulana Azad Medical College-Lok Nayak Jai Prakash Narayan (LNJP) Hospital, New Delhi, India.
    Scabies is a common contagious cutaneous disease and usually affects the young, characterized by polymorphous lesions that may present as burrows, pruritic papules, and inflammatory nodules. Bullous scabies (BS) is its rather rare subtype, mimicking bullous pemphigoid. We report a 15-year-old Chinese boy presenting with 1-month history of pruritic bullae on his penile skin, showing poor response to both topical steroids and systemic antihistamines, but cured by sulfur ointment alone. Read More

    [Seroprevalence of human parvovirus B19 in children with fever and rash in the North of Tunisia].
    Bull Soc Pathol Exot 2016 Aug 7;109(3):165-71. Epub 2016 Jul 7.
    Unité de recherche UR12ES01, faculté de médecine de Tunis, université de Tunis El-Manar, Tunis, Tunisie.
    The aim of the study is to evaluate the prevalence of specific antibodies anti-human parvovirus B19 (PVB19) immunoglobulin M (IgM) and IgG in children with fever and rash. This study involved 257 children aged from 7 months to 15 years with febrile rash unrelated to measles and rubella (seronegative for IgM). The sera were examined by immunoenzymatic assay. Read More

    Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.
    Am J Surg Pathol 2016 Sep;40(9):1232-42
    Departments of *Pathology †Clinical Development, Sanofi Genzyme, Cambridge ¶Division of Genetics, Children's Hospital Boston #Department of Pediatrics, Harvard Medical School, Boston, MA ‡Division of Pediatric Genetic Medicine, The Children's Hospital at Montefiore, Bronx ∥Division of Liver Diseases, Mount Sinai School of Medicine, NY, NY §Manchester Centre for Genomic Medicine, St Mary's Hospital, CMFT, University of Manchester, Manchester, UK.
    Acid sphingomyelinase deficiency (ASMD; Niemann-Pick disease type A and B) is a lysosomal storage disorder characterized by abnormal intracellular sphingomyelin (SM) accumulation. Prominent liver involvement results in hepatomegaly, fibrosis/cirrhosis, abnormal liver chemistries, and a proatherogenic lipid profile. Olipudase alfa (recombinant human ASM) is in clinical development as an investigational enzyme replacement therapy for the non-neurological manifestations of ASMD. Read More

    Clinical features of uveitis in children and adolescents at a tertiary referral centre in Tokyo.
    Br J Ophthalmol 2017 Apr 22;101(4):406-410. Epub 2016 Jun 22.
    Department of Ophthalmology, Kyorin University School of Medicine, Tokyo, Japan.
    Objectives: To analyse clinical features, systemic associations, treatment and visual outcomes of uveitis in children and adolescents at a tertiary centre in Tokyo.

    Methods: Clinical records of 64 patients under the age of 20 years who presented between 2001 and 2013 to the Ocular Inflammation Service of the Kyorin Eye Center, Tokyo were reviewed retrospectively.

    Results: Of the 64 patients, there was a predominance of girls (70%) and bilateral disease (81%). Read More

    Hydroxyurea Use in Young Children With Sickle Cell Anemia in New York State.
    Am J Prev Med 2016 Jul;51(1 Suppl 1):S31-8
    Office of the Medical Director, Office of Quality and Patient Safety, New York State Department of Health, Albany, New York.
    Introduction: This study examined hydroxyurea usage in young children with sickle cell anemia within New York State (NYS). The cohort was 273 children with sickle cell anemia born in NYS in 2006-2009 and enrolled essentially continuously in Medicaid for the first 4 years of life.

    Methods: Medicaid data were used to examine hydroxyurea usage in this group by age at first prescription fill, persistence, region, treatment institution, and year. Read More

    Clinical profile and juvenile arthritis damage index in children with juvenile idiopathic arthritis: A study from a tertiary care center in south India.
    Int J Rheum Dis 2016 Jun 16. Epub 2016 Jun 16.
    Department of Pediatrics, Institute of Maternal and Child Health (IMCH), Government Medical College, Kozhikode, Kerala, India.
    Aim: This study was designed to determine the clinical profile of juvenile idiopathic arthritis (JIA) and its morbidity using the juvenile arthritis damage index (JADI) score at a tertiary care center in northern Kerala and to compare with data from India and abroad.

    Methods: A hospital-based cross-sectional study was carried out over a period of one and half years from January 2011 to July 2012. Clinical and laboratory profiles and morbidity were assessed. Read More

    Lumbar Swelling as the Unusual Presentation of Henoch-Schonlein Purpura in a Child.
    Balkan Med J 2016 May 1;33(3):360-2. Epub 2016 May 1.
    Department of Radiology, Haseki Training and Research Hospital, İstanbul, Turkey.
    Background: Henoch-Schönlein Purpura (HSP) is a systemic hypersensitivity disease of unknown cause that is characterized by a purpuric rash and systemic manifestations, such as colicky abdominal pain, polyarthralgia, and acute glomerulonephritis. Common complications of HSP that lead to surgical intervention include intussusception, perforation, necrosis, and massive gastrointestinal bleeding. Unusual clinical manifestations of HSP may include edema of the scrotum and eyes. Read More

    Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
    JIMD Rep 2016 16;30:73-79. Epub 2016 Jun 16.
    Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
    Mutations of the mitochondrial citrate carrier (CIC) SLC25A1 cause combined D-2- and L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182), a neurometabolic disorder characterized by developmental delay, hypotonia, and seizures. Here, we describe the female child of consanguineous parents who presented neonatally with lactic acidosis, periventricular frontal lobe cysts, facial dysmorphism, recurrent apneic episodes, and deficient complex IV (cytochrome c oxidase) activity in skeletal muscle. Exome sequencing revealed a homozygous SLC25A1 missense mutation [NM_005984. Read More

    Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
    Am J Med Genet A 2016 Oct 14;170(10):2617-31. Epub 2016 Jun 14.
    Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
    Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features, hearing loss, laryngotracheal anomalies, arthropathy, radiographic defects, intellectual disability, and a more recently appreciated spectrum of cardiovascular defects with a striking fibroproliferative response to surgical intervention. We report four newly described patients with typical features of Myhre syndrome who had (i) a mildly narrow descending aorta and restrictive cardiomyopathy; (ii) recurrent pericardial and pleural effusions; (iii) a large persistent ductus arteriosus with juxtaductal aortic coarctation; and (iv) restrictive pericardial disease requiring pericardiectomy. Read More

    Postnatal cumulative incidence of supraventricular tachycardia in a general pediatric population: A national birth cohort database study.
    Heart Rhythm 2016 Oct 7;13(10):2070-5. Epub 2016 Jun 7.
    Department of Pediatrics, National Taiwan University Hospital and Medical College, National Taiwan University, Genomics Research Center, Academia Sinica, Taiwan Administration of National Health Insurance, Taipei, Taiwan.
    Background: Supraventricular tachycardia (SVT) is a common pediatric tachycardia, but the true incidence is unknown.

    Objective: We sought to investigate the true postnatal incidence and its medical needs.

    Methods: We derived a birth cohort comprised children born between 2000 and 2008 who had complete postnatal medical data in the Taiwan National Health Insurance Database for the period from 2000 to 2014. Read More

    Association between academic performance and cognitive dysfunction in patients with juvenile systemic lupus erythematosus.
    Rev Bras Reumatol Engl Ed 2016 May-Jun;56(3):252-7. Epub 2016 Apr 18.
    Department of Pediatrics, Pediatric Rheumatology Unit, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil; Department of Medicine, Rheumatology Unit, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil. Electronic address:
    Objective: To determine whether there is an association between the profile of cognitive dysfunction and academic outcomes in patients with juvenile systemic lupus erythematosus (JSLE).

    Methods: Patients aged ≤18 years at the onset of the disease and education level at or above the fifth grade of elementary school were selected. Cognitive evaluation was performed according to the American College of Rheumatology (ACR) recommendations. Read More

    Maternal immunisation with trivalent inactivated influenza vaccine for prevention of influenza in infants in Mali: a prospective, active-controlled, observer-blind, randomised phase 4 trial.
    Lancet Infect Dis 2016 Sep 31;16(9):1026-35. Epub 2016 May 31.
    Center for Vaccine Development, University of Maryland School of Medicine, Baltimore, MD, USA. Electronic address:
    Background: Despite the heightened risk of serious influenza during infancy, vaccination is not recommended in infants younger than 6 months. We aimed to assess the safety, immunogenicity, and efficacy of maternal immunisation with trivalent inactivated influenza vaccine for protection of infants against a first episode of laboratory-confirmed influenza.

    Methods: We did this prospective, active-controlled, observer-blind, randomised phase 4 trial at six referral centres and community health centres in Bamako, Mali. Read More

    Splenic infarcts as a rare manifestation of parvovirus B19 infection.
    IDCases 2016 6;4:62-4. Epub 2016 May 6.
    First Department of Internal Medicine, Tzaneio General Hospital, Afentouli & Zanni Str., Piraeus 18536, Greece.
    Introduction: Human parvovirus B19 is a DNA virus most known for causing erythema infectiosum in children, and polyarthropathy or transient aplastic crisis in adults. However, various unusual clinical manifestations have also been reported in association with it. We describe a young patient who presented with splenic infarcts as a rare complication of B19 infection. Read More

    Prevalence of Dog Bites in Rural and Urban Slums of Delhi: A Community-based Study.
    Ann Med Health Sci Res 2016 Mar-Apr;6(2):115-9
    Department of Community Medicine, Maulana Azad Medical College, New Delhi, India.
    Background: Rabies is a fatal disease of the central nervous system caused by the bites of warm-blooded animals. One of the important methods of controlling rabies is by interventions to limit the number of dog bites, the most common source of transmission of rabies to humans in the community. Community-based data on dog bites are rare from India. Read More

    B-type natriuretic peptide levels normalise in preterm infants without a patent ductus arteriosus by the fifth postnatal day.
    Acta Paediatr 2016 Aug 10;105(8):e352-5. Epub 2016 Jun 10.
    Department of Pediatrics, Albany Medical Center, Albany, NY, USA.
    Aim: Few published reports have established B-type natriuretic peptide (BNP) levels in preterm infants without a patent ductus arteriosus (PDA). This study addressed that gap in our knowledge by establishing a reference range for BNP levels during the first two weeks of life in preterm infants without a PDA.

    Methods: We enrolled 36 preterm infants between 24 and 32 weeks of gestation in this prospective, noninterventional study. Read More

    Seroprevalence of erythrovirus B19 in Saudi pregnant women.
    J Family Community Med 2016 May-Aug;23(2):105-8
    Department of Medical Microbiology, Faculty of Medicine, Umm Al-Qura University, Makkah, Kingdom of Saudi Arabia.
    Background: Erythrovirus B19 infection is associated with clinical symptoms that range from mild to severe. The common clinical presentation of B19 virus (B19V) infection is erythema infectiosum, arthropathy, aplastic crisis, and fetal infection. Infection in seronegative pregnant women can lead to fetal hydrops. Read More

    A False Positive Dengue Fever Rapid Diagnostic Test Result in a Case of Acute Parvovirus B19 Infection.
    Intern Med 2016 15;55(10):1379-82. Epub 2016 May 15.
    Department of Emergency Center, Toyama Prefectural Central Hospital, Japan.
    An outbreak of dengue fever occurred in Japan in August 2014. We herein report the case of a 63-year-old man who presented with a persistent fever in September 2014. Acute parvovirus B19 infection led to a false positive finding of dengue fever on a rapid diagnostic test (Panbio Dengue Duo Cassette(TM)). Read More

    Betaferon in chronic viral cardiomyopathy (BICC) trial: Effects of interferon-β treatment in patients with chronic viral cardiomyopathy.
    Clin Res Cardiol 2016 Sep 25;105(9):763-73. Epub 2016 Apr 25.
    Department of Cardiology, Campus Benjamin Franklin, Charite-Universitätsmedizin Berlin, Berlin, Germany.
    Background: Chronic viral infections of the heart are considered one antecedent event leading to progressive dysfunction of the myocardium, often with an impaired prognosis due to a virus- or immune-mediated myocardial injury. Symptomatic treatment does not influence the viral cause of heart failure, and the effect of antiviral treatment has not been determined, yet.

    Methods And Results: In this phase II study 143 patients with symptoms of heart failure and biopsy-based confirmation of the enterovirus (EV), adenovirus, and/or parvovirus B19 genomes in their myocardial tissue were randomly assigned to double-blind treatment, and received either placebo (n = 48) or 4 × 10(6) (n = 49) and 8 × 10(6) IU (n = 46) interferon beta-1b (IFN-β-1b) for 24 weeks, in addition to standard heart failure treatment. Read More

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