Allergy 2017 Sep 23. Epub 2017 Sep 23.

Department of Women and Child Health, Referral Centre for Food Allergy Diagnosis and Treatment Veneto Region, University of Padua, Padua, Italy.

Allergic rhinoconjunctivitis (AR) is an allergic disorder of the nose and eyes affecting about a fifth of the general population. Symptoms of AR can be controlled with allergen avoidance measures and pharmacotherapy. However, many patients continue to have ongoing symptoms and an impaired quality of life; pharmacotherapy may also induce some side-effects. Read More

Biomed Pharmacother 2017 Sep 15;95:1177-1186. Epub 2017 Sep 15.

Department of Dermatology, Hainan Provincial Dermatology Disease Hospital, 15 LongKun-Nan Road, Haikou 570206, China. Electronic address:

Curcumin, a polyphenol compound, possesses potent pharmacological properties in preventing cancers, which make it as a potential anti-cancer mediator. However, it is still unknown that whether Curcumin induced melanoma A375 cell was associated with oxidative stress. Here, we firstly found a fascinating result that Curcumin could reduce the proliferation and induced apoptosis of human melanoma A375 cells. Read More

Biomed Res Int 2017 22;2017:5142754. Epub 2017 Aug 22.

Department of Pediatrics, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.

Background: Atopic dermatitis (AD) is a common chronic inflammatory skin disease, but only few studies involved samples of children and adolescents that are representative of the entire Korean population. This study aimed to estimate the prevalence and risk factors of AD among children and adolescents in Korea by using nationally representative data.

Methods: We used data from the fifth Korean National Health and Nutrition Examination Survey in 2010 and retrospectively evaluated 2,116 children and adolescents. Read More

JIMD Rep 2017 Aug 31. Epub 2017 Aug 31.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Objectives: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan.

Patients And Methods: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency. Read More

Sci Rep 2017 Aug 23;7(1):9214. Epub 2017 Aug 23.

Fifth Affiliated Hospital, Sun Yat-sen University-BGI Laboratory, Department of Experimental Medicine, The Fifth Affiliated Hospital,Sun Yat-sen University, Zhuhai, China.

SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter for bile acids (BAs) and the receptor for hepatitis B and D viruses. NTCP is also a target of multiple drugs. We aimed to evaluate the medical consequences of the loss of function mutation p. Read More

Pediatrics 2017 Jun;139(Suppl 3):S194-S206

Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, Illinois.

Background And Objective: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. Read More

BMC Cancer 2017 Jul 24;17(1):496. Epub 2017 Jul 24.

Institute of Biosciences and Medical Technology - BioMediTech, University of Tampere, Lääkärinkatu 1, FI-33520, Tampere, Finland.

Background: BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancer-associated chromosomal region 11q13. The EMSY gene encodes a BRCA2-interacting protein that has been implicated in DNA damage repair and genomic instability. Read More

Am J Dermatopathol 2017 Jul 6. Epub 2017 Jul 6.

Departments of *Pathology, †Dermatology, and ‡Internal Medicine, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain; and §Dermatopathologie Friedrichshafen, Friedrichshafen, Germany.

Human parvovirus B19 (B19V) causes a number of skin exanthemas and has been related to both cutaneous and systemic diseases. Tropism of the virus for the rapidly proliferating erythroid progenitor cells in the bone marrow and fetal liver explains the pathogenesis of anemia and fetal hydrops. The cutaneous lesions of erythema infectiosum and other B19V-related exanthemas have been attributed to the deposition of immune complexes in the skin. Read More

World J Pediatr Congenit Heart Surg 2017 Jul;8(4):427-434

5 Division of Pediatric Cardiology, Department of Pediatrics, College of Medicine, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Objective: To evaluate the performance of the Pediatric Risk of Mortality 3 (PRISM-3) score in critically ill children with heart disease.

Methods: Patients <18 years of age admitted with cardiac diagnoses (cardiac medical and cardiac surgical) to one of the participating pediatric intensive care units in the Virtual Pediatric Systems, LLC, database were included. Performance of PRISM-3 was evaluated with discrimination and calibration measures among both cardiac surgical and cardiac medical patients. Read More

Int J Environ Res Public Health 2017 Jun 30;14(7). Epub 2017 Jun 30.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, 06132 Perugia, Italy.

Background: The occurrence of a distinctive perineal eruption that appears early in infants with Kawasaki disease (KD), the most relevant type of febrile vasculitis of childhood, has received little attention in pediatric reports. KD diagnosis is based on clinical criteria, which can be supported by laboratory abnormalities or positive echocardiography findings: difficulty in diagnosis can be increased by incomplete or atypical presentations, but a timely diagnostic process is essential in the youngest patients who are more prone to the risk of cardiac sequelae resulting from KD. Case Presentation: In this report, we present the case of a 2-month-old infant with an unusual presentation of KD, in whom diagnosis was made despite fever remission on the fourth day of hospitalization following intravenous corticosteroid therapy to treat concomitant bronchoconstriction. Read More

Cell Physiol Biochem 2017 23;42(2):848-858. Epub 2017 Jun 23.

Department of Center Laboratory, the Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

Background/aims: This study aimed to investigate the role of microRNA (miR)-122a in regulating zonulin during the modulation of intestinal barrier.

Methods: Zonulin proteins and their target gene expression were analyzed in miR-122a-overexpressing cell lines and in the target gene of epidermal growth factor receptor (EGFR). An mmu-miR-122a intestinal epithelial conditional transgenic (miR-122a-TG) mouse model was established to investigate EGFR and zonulin expression. Read More

J Child Neurol 2017 Sep 21;32(10):886-902. Epub 2017 Jun 21.

1 Society of Junior Doctors, Athens, Greece.

Objective: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities.

Methods: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Read More

Eur J Paediatr Neurol 2017 Sep 3;21(5):722-729. Epub 2017 Jun 3.

Pediatric Emergency Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Background: Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious sequelaes. No data are present in pediatrics on the presentation and management of AD.

Aim: This study investigated characteristics, etiology and health care utilization of the pediatric population with AD accessed to pediatric Emergency Departments (ED), trying to identify "red flags" associated with potentially life-threatening (LT) conditions. Read More

Neuromuscul Disord 2017 Jul 6;27(7):616-618. Epub 2017 Apr 6.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA. Electronic address:

DNA2 encodes a protein with nuclease, ATPase, and helicase domains, and serves to maintain mitochondrial DNA integrity. Mutations in DNA2 cause autosomal dominant progressive ophthalmoplegia with mitochondrial DNA deletions. This disorder was first reported in four patients with heterozygous, missense mutations in DNA2. Read More

J Pediatr Hematol Oncol 2017 Jul;39(5):350-354

*Department of Pediatrics, Section of Hematology/Oncology, University of South Dakota Sanford School of Medicine, Sanford Children's Hospital, Sioux Falls, SD †Section of Pediatric Hematology ‡Department of Psychiatry and Behavioral Medicine §Department of Neurology ∥Section of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI.

Neuropsychological deficits, including difficulties with attention, are well described in children with sickle cell disease (SCD). Very little is known about attention deficit hyperactivity disorder (ADHD) in children with SCD. The objective of this study was to determine the proportion of ADHD in children with SCD referred for neuropsychological evaluation. Read More

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

J Acquir Immune Defic Syndr 2017 Jun;75(2):219-225

*HIV-NAT, Thai Red Cross AIDS Research Centre, Bangkok, Thailand; †Kirby Institute, University of New South Wales, Sydney, Australia; ‡Division of Infectious Diseases, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; §Research Unit in Pediatric Infectious Diseases and Vaccines, Chulalongkorn University, Bangkok, Thailand; ‖Department of Global Health, Academic Medical Center, University of Amsterdam, Amsterdam Institute of Global Health and Development, Amsterdam, the Netherlands; ¶Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; #The HIV/AIDS, Tuberculosis and Infectious Diseases Program, National Health Security Office (NHSO), Bangkok, Thailand; and **Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background: We assessed the treatment outcomes on first-line antiretroviral therapy (ART), and factors associated with switching regimen in HIV-infected children treated through the universal coverage health program (UC) in Thailand.

Methods: Children aged <15 years at ART initiation who had been receiving ART for at least 6 months between 2008 and 2014 through UC were included in the analysis. The Kaplan-Meier method was used to estimate immunological recovery (IMR), immunological failure, and virological failure (VF). Read More

Rev Assoc Med Bras (1992) 2017 Mar;63(3):224-228

PhD, Scientific Researcher, Núcleo de Doenças Respiratórias, Instituto Adolfo Lutz, São Paulo, SP, Brazil.

Introduction:: Virus surveillance strategies and genetic characterization of human parvovirus B19 (B19V) are important tools for regional and global control of viral outbreak. In São Paulo, Brazil, we performed a study of B19V by monitoring the spread of this virus, which is an infectious agent and could be mistakenly reported as a rash and other types of infection.

Method:: Serum samples were subjected to enzyme immunoassay, real time polymerase chain reaction, and sequencing. Read More

Childs Nerv Syst 2017 Jul 3;33(7):1043-1045. 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

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

Cancer 2017 Aug 7;123(16):3150-3158. 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

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

Am J Perinatol 2017 Jul 20;34(9):911-917. 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

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

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

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

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

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

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

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

JIMD Rep 2017 9;35:67-70. 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

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

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

Blood 2016 Nov;128(21):2504-2509

Office of the Dean, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, TN.

Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Read More

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

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

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

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

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

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

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

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

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

Br J Cancer 2016 Oct 23;115(8):1008-1014. Epub 2016 Aug 23.

Department of Clinical Science, Intervention and Technology, CLINTEC, Karolinska Institutet, S-141 86 Stockholm, Sweden.

Background: Some childhood acute lymphoblastic leukaemias (ALL) can be traced back to a prenatal origin, where a virus infection could be involved in the first pre-leukaemic clone development. The DNA virome of 95 children who later developed ALL was characterised from neonatal blood spots (NBS) using unbiased next-generation sequencing (NGS) and compared with the virome of 95 non-ALL controls.

Methods: DNA was individually extracted from the ALL-patients and controls, pooled, randomly amplified and sequenced using the Illumina MiSeq Sequencing System. Read More

Eur J Dermatol 2016 Dec;26(6):618-619

Department of Clinical and Experimental Medicine - Dermatology, University of Messina, Messina, Italy.

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

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

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

Hamostaseologie 2016 Nov 4;36(4):279-283. Epub 2016 Aug 4.

Katharina Machura, University Medical Center, Freiburg - Department of Pediatrics and Adolescent Medicine, Breisacher-Str. 66, 79106 Freiburg, Germany, Tel. +49/(0)761/27 06 37 10, E-mail:

The platelet adenosine 5'-diphosphate (ADP) receptor P2Y12 (P2Y12R) plays a critical role in platelet aggregation. The present report illustrates an update of dysfunctional platelet P2Y12R mutations diagnosed with congenital lifelong bleeding problems. Described patients with heterozygous or homozygous substitution in the P2Y12R gene and qualitative abnormalities of the platelet P2Y12R are summarized. Read More

J Pediatr 2016 Oct 29;177:167-172. 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