CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.

Abstract:

OBJECTIVES:CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome are known to have significant clinical overlap including cardiac anomalies, ear abnormalities, hearing loss, developmental delay, renal abnormalities, and cleft palate. Immunodeficiency has been well documented in 22q11.2 deletion, but there has been limited recognition of this potentially serious complication in CHARGE syndrome. The goals of our study were to identify clinical features unique to CHARGE syndrome or 22q11.2 deletion and to describe the spectrum of immunodeficiency found in patients with CHARGE syndrome. METHODS:This study included 25 children diagnosed with CHARGE syndrome with positive CHD7 mutations through the Children's Hospital of Philadelphia genetics program. Clinical features and laboratory findings were reviewed retrospectively. We compared our findings to data available for a large cohort of patients with 22q11.2 deletion syndrome followed in our clinical genetics program. RESULTS:Features found more commonly in CHARGE syndrome included coloboma, choanal atresia, facial nerve palsy, tracheoesophageal fistula, and genital hypoplasia in boys. A high incidence of marked hypocalcemia was observed in our study group (72%). We found a spectrum of cell-mediated immunodeficiency in our study group, which ranged from lymphopenia (60%) to severe combined immunodeficiency (8%). Defects in humoral immunity were documented in 4 patients and included severe hypogammaglobulinemia with decreased T-cell numbers, transient hypogammaglobulinemia during infancy, and immunoglobulin A deficiency. CONCLUSIONS:The presence of coloboma, choanal atresia, facial nerve palsy, tracheoesophageal fistula, or genital hypoplasia in boys should alert the clinician to the possibility of CHARGE syndrome rather than the 22q11.2 deletion. Molecular testing for CHD7 mutations may help to confirm the diagnosis. In this study, significant hypocalcemia and lymphopenia occurred more frequently in patients with CHARGE syndrome than in those with 22q11.2 deletion syndrome. Early inclusion of immunologists to the multidisciplinary care team (as with 22q11.2 deletion) may be of great benefit to affected patients.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Jyonouchi S,McDonald-McGinn DM,Bale S,Zackai EH,Sullivan KE

doi

10.1542/peds.2008-3400

subject

Has Abstract

pub_date

2009-05-01 00:00:00

pages

e871-7

issue

5

eissn

0031-4005

issn

1098-4275

pii

123/5/e871

journal_volume

123

pub_type

杂志文章
  • Use of a telephone nursing line in a pediatric neurology clinic: one approach to the shortage of subspecialists.

    abstract:OBJECTIVE:There are not enough pediatric neurologists to meet the many needs of pediatric neurology patients. The Hospital for Sick Children has responded by expanding the nursing role in the pediatric neurology outpatient clinic. The objective of this study was to examine the use of a telephone nursing line in this ho...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.112.5.1083

    authors: Letourneau MA,MacGregor DL,Dick PT,McCabe EJ,Allen AJ,Chan VW,MacMillan LJ,Golomb MR

    更新日期:2003-11-01 00:00:00

  • Using mass media to reduce adolescent involvement in drug trafficking.

    abstract:OBJECTIVE:Drug trafficking among adolescents is a newly recognized high-risk behavior that seems to be involving large numbers of youths. Strategies to prevent and/or alter this behavior must be developed and evaluated. In view of the high exposure of adolescents to the mass media, interventionists seeking to reduce ad...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:

    authors: Romer D

    更新日期:1994-06-01 00:00:00

  • Maternal Depression in Early Childhood and Developmental Vulnerability at School Entry.

    abstract:OBJECTIVES:To assess the relation between exposure to maternal depression before age 5 and 5 domains of developmental vulnerability at school entry, overall, and by age at exposure. METHODS:This cohort study included all children born in Manitoba, Canada, who completed the Early Development Instrument between 2005 and...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2020-0794

    authors: Wall-Wieler E,Roos LL,Gotlib IH

    更新日期:2020-09-01 00:00:00

  • HIV transmission through breastfeeding: still possible in developed countries.

    abstract::We describe here the case of a 13-month-old boy who acquired HIV infection postnatally through breastfeeding in a developed country in 2012. His mother had regular pregnancy follow-up and was found to be seronegative for HIV on 2 consecutive screening tests (during pregnancy and just after delivery). However, 1 year l...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2013-3022

    authors: Blumental S,Ferster A,Van den Wijngaert S,Lepage P

    更新日期:2014-09-01 00:00:00

  • Cost-effective treatment of phimosis.

    abstract:OBJECTIVE:To determine the most cost-effective treatment for phimosis. DESIGN:The costs of three treatment strategies for treating phimosis were evaluated using a decision-tree analysis. Three therapeutic approaches were considered: circumcision, preputial plasty (the use of plastic surgical techniques to enlarge the ...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.102.4.e43

    authors: Van Howe RS

    更新日期:1998-10-01 00:00:00

  • Reducing absenteeism from gastrointestinal and respiratory illness in elementary school students: a randomized, controlled trial of an infection-control intervention.

    abstract:BACKGROUND:Students often miss school because of gastrointestinal and respiratory illnesses. We assessed the effectiveness of a multifactorial intervention, including alcohol-based hand-sanitizer and surface disinfection, in reducing absenteeism caused by gastrointestinal and respiratory illnesses in elementary school ...

    journal_title:Pediatrics

    pub_type: 杂志文章,随机对照试验

    doi:10.1542/peds.2007-2597

    authors: Sandora TJ,Shih MC,Goldmann DA

    更新日期:2008-06-01 00:00:00

  • Restless legs syndrome: prevalence and impact in children and adolescents--the Peds REST study.

    abstract:OBJECTIVES:Restless legs syndrome, a common neurologic sleep disorder, occurs in 5% to 10% of adults in the United States and Western Europe. Although approximately 25% of adults with restless legs syndrome report onset of symptoms between the ages of 10 and 20 years, there is very little literature looking directly at...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-2767

    authors: Picchietti D,Allen RP,Walters AS,Davidson JE,Myers A,Ferini-Strambi L

    更新日期:2007-08-01 00:00:00

  • Respiratory distress syndrome of the newborn and complications of pregnancy.

    abstract::A group of 412 infants with birthweights between 501 and 2,500 gm and gestational ages of 36 weeks or less were studied for the influence of both prolonged ruputre of amniotic membranes and maternal hypertension on the incidence of idiopathic respiratory distress syndrome (IRDS). The occurrence of these complications ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Lee KS,Eidelman AI,Tseng PI,Kandall SR,Gartner LM

    更新日期:1976-11-01 00:00:00

  • Persistent beneficial effects of breast milk ingested in the neonatal intensive care unit on outcomes of extremely low birth weight infants at 30 months of age.

    abstract:BACKGROUND:We previously reported beneficial effects of breast milk ingestion by infants with extremely low birth weight in the NICU on developmental outcomes at 18 months' corrected age. The objective of this study was to determine whether these effects of breast milk in infants with extremely low birth weight persist...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1542/peds.2006-3227

    authors: Vohr BR,Poindexter BB,Dusick AM,McKinley LT,Higgins RD,Langer JC,Poole WK,National Institute of Child Health and Human Development National Research Network.

    更新日期:2007-10-01 00:00:00

  • Mechanical vibration in neonatal transport.

    abstract::Mechanical vibration encountered in land transports was assessed objectively through measurement of vertical acceleration experienced by neonates in transit. Vibration was most predominant in the hazardous low frequency range of 3 to 18 Hz. The peak acceleration amplitudes (intermittent thrusts) ranged from 5 to 13 m/...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Shenai JP,Johnson GE,Varney RV

    更新日期:1981-07-01 00:00:00

  • Health Care Use and Health Behaviors Among Young Adults With History of Parental Incarceration.

    abstract:OBJECTIVES:To determine if longitudinal associations exist between parental incarceration (PI) and health care use or health behaviors among a national sample of young adults. METHODS:We used the National Longitudinal Survey of Adolescent to Adult Health to examine associations between history of mother incarceration ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2017-4314

    authors: Heard-Garris N,Winkelman TNA,Choi H,Miller AK,Kan K,Shlafer R,Davis MM

    更新日期:2018-09-01 00:00:00

  • Clinical value of immunoglobulin A antitransglutaminase assay in the diagnosis of celiac disease.

    abstract:OBJECTIVES:Our goal was to evaluate the possible correspondence between antitissue transglutaminase of immunoglobulin A class levels and stage of mucosal damage in patients affected by celiac disease. In addition, we assessed clinical use of antitissue transglutaminase values to predict biopsy results. METHODS:One tho...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2006-0604

    authors: Diamanti A,Colistro F,Calce A,Devito R,Ferretti F,Minozzi A,Santoni A,Castro M

    更新日期:2006-12-01 00:00:00

  • Renal outcome of neonatal renal venous thrombosis: review of 28 patients and effectiveness of fibrinolytics and heparin in 10 patients.

    abstract:OBJECTIVES:Neonatal renal venous thrombosis is a rare disorder that can result in severe renal damage. To evaluate the experience over 10 years and review the effectiveness of fibrinolytic and/or heparin therapy, chart reviews were performed for newborns with renal venous thrombosis. PATIENTS, INTERVENTIONS, AND OUTCOM...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2005-1461

    authors: Messinger Y,Sheaffer JW,Mrozek J,Smith CM,Sinaiko AR

    更新日期:2006-11-01 00:00:00

  • Central nervous system side effects of first- and second-generation antihistamines in school children with perennial allergic rhinitis: a randomized, double-blind, placebo-controlled comparative study.

    abstract:OBJECTIVE:Allergic rhinitis is common and on the rise. Antihistamines are the mainstay of treatment and are the most commonly prescribed drugs in Singapore. Treatment-related sedation and its effect on cognition are a major concern. First- and second-generation antihistamines show varying degrees of sedation, but to da...

    journal_title:Pediatrics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1542/peds.113.2.e116

    authors: Ng KH,Chong D,Wong CK,Ong HT,Lee CY,Lee BW,Shek LP

    更新日期:2004-02-01 00:00:00

  • External Validation of the PediBIRN Clinical Prediction Rule for Abusive Head Trauma.

    abstract:BACKGROUND AND OBJECTIVES:A 4-variable abusive head trauma (AHT) clinical prediction rule (CPR) for use in the PICU was derived and validated for children <3 years of age by the Pediatric Brain Injury Research Network (PediBIRN). We aimed to externally validate PediBIRN as designed (PICU only) as well as using broader ...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2017-3674

    authors: Pfeiffer H,Smith A,Kemp AM,Cowley LE,Cheek JA,Dalziel SR,Borland ML,O'Brien S,Bonisch M,Neutze J,Oakley E,Crowe L,Hearps SJC,Lyttle MD,Bressan S,Babl FE,Paediatric Research in Emergency Department International Collaborat

    更新日期:2018-05-01 00:00:00

  • Homogeneous clinical subgroups in children with Tourette syndrome.

    abstract::The existence of two clinically homogeneous subgroups in Tourette syndrome, depending upon the presence or absence of migraine or a family history of migraine, is suggested. Patients with Tourette syndrome who have migraine (n = 18) were found to have a significantly higher prevalence of disorders of arousal--particul...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Barabas G,Matthews WS

    更新日期:1985-01-01 00:00:00

  • Reflex sympathetic dystrophy in children.

    abstract::Two pediatric patients had reflex sympathetic dystrophy, which has been well described in adults but is rarely recognized in children. The syndrome consists of continuous pain, hyperesthesia, and autonomic symptoms occurring in an extremity, usually following trauma. The various types of presentation, differential dia...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Fermaglich DR

    更新日期:1977-12-01 00:00:00

  • Annual summary of vital statistics--1982.

    abstract::Data for this article, as in previous reports, are drawn principally from the Monthly Vital Statistics Report, published by the National Center for Health Statistics. The international data come from the Demographic Yearbook and the quarterly Population and Vital Statistics Report, both published by the Statistical Of...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Wegman ME

    更新日期:1983-12-01 00:00:00

  • Trends in environmentally related childhood illnesses.

    abstract::Tracking incidence or prevalence of diseases and using that information to target interventions is a well-established strategy for improving public health. The need to track environmentally mediated chronic diseases is increasingly recognized. Trends in childhood illnesses are 1 element of a framework for children's e...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:

    authors: Woodruff TJ,Axelrad DA,Kyle AD,Nweke O,Miller GG,Hurley BJ

    更新日期:2004-04-01 00:00:00

  • Considering complementary and alternative medicine alternatives in cases of life-threatening illness: applying the best-interests test.

    abstract::In this article we explore decision-making about treatment when a child faces a life-threatening illness but conventional treatment presents substantial risk and uncertain benefit. When is it acceptable for parents to decide to use complementary and alternative medicine as an alternative, rather than a complement, to ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2010-2720F

    authors: Gilmour J,Harrison C,Asadi L,Cohen MH,Aung S,Vohra S

    更新日期:2011-11-01 00:00:00

  • Eleven plasma proteins as indicators of protein nutritional status in very low birth weight infants.

    abstract::Concentrations of 11 plasma proteins were measured in 28 healthy, growing, very low birth weight, appropriate-for-gestational-age infants fed varying levels of human milk protein intake (range 1.7 to 3.9 g/kg per day). Significant positive correlations were found between mean protein intake and concentrations of 7 of ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Polberger SK,Fex GA,Axelsson IE,Räihä NC

    更新日期:1990-12-01 00:00:00

  • Growth of hyperkinetic children taking methylphenidate, dextroamphetamine, or imipramine/desipramine.

    abstract::One hundred children with the hyperkinetic syndrome or minimal brain dysfunction syndrome were treated with medication: 60 with methylphenidate (Ritalin), 24 with dextroamphetamine (Dexedrine), and 16 with either imipramine or desipramine. The duration of treatment was for a minimum of two years, and averaged five yea...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Gross MD

    更新日期:1976-09-01 00:00:00

  • A successful city-wide smoke detector giveaway program.

    abstract::Each year, 5,000 Americans die and 300,000 are hospitalized as a result of 2.8 million residential fires. Almost all house fires allow time for safe exit if an early warning is given. Smoke detectors are an effective, reliable, and inexpensive method of providing such warning. After an upsurge of deaths related to fir...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Gorman RL,Charney E,Holtzman NA,Roberts KB

    更新日期:1985-01-01 00:00:00

  • The essential role of research in community pediatrics.

    abstract::Several recommendations in the American Academy of Pediatrics policy statement "The Pediatrician's Role in Community Pediatrics" underscore the essential role of research as an agent of change to promote the health and well-being of children. This article provides (1) a framework for thinking about research in communi...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2004-2825T

    authors: Duggan A,Jarvis J,Derauf DC,Aligne CA,Kaczorowski J

    更新日期:2005-04-01 00:00:00

  • Global Health: Preparation for Working in Resource-Limited Settings.

    abstract::Trainees and clinicians from high-income countries are increasingly engaging in global health (GH) efforts, particularly in resource-limited settings. Concomitantly, there is a growing demand for these individuals to be better prepared for the common challenges and controversies inherent in GH work. This is a state-of...

    journal_title:Pediatrics

    pub_type: 杂志文章,评审

    doi:10.1542/peds.2016-3783

    authors: St Clair NE,Pitt MB,Bakeera-Kitaka S,McCall N,Lukolyo H,Arnold LD,Audcent T,Batra M,Chan K,Jacquet GA,Schutze GE,Butteris S,Global Health Task Force of the American Board of Pediatrics.

    更新日期:2017-11-01 00:00:00

  • Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy.

    abstract:OBJECTIVE:Berardinelli-Seip syndrome is a rare congenital lipoatrophy with a severe prognosis and no efficient therapy. Children present with low leptin levels and severe metabolic complications (insulin resistance, elevated triglyceride levels, and hepatic steatosis). The objective of this study was to test safety and...

    journal_title:Pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1542/peds.2006-3165

    authors: Beltrand J,Beregszaszi M,Chevenne D,Sebag G,De Kerdanet M,Huet F,Polak M,Tubiana-Rufi N,Lacombe D,De Paoli AM,Levy-Marchal C

    更新日期:2007-08-01 00:00:00

  • Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database.

    abstract:OBJECTIVE:We describe patient characteristics and postoperative morbidity and mortality rates for patients with Down syndrome undergoing congenital heart disease surgery. METHODS:This retrospective cohort study used the Society of Thoracic Surgeons Congenital Heart Surgery Database to compare patient characteristics a...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2009-3245

    authors: Fudge JC Jr,Li S,Jaggers J,O'Brien SM,Peterson ED,Jacobs JP,Welke KF,Jacobs ML,Li JS,Pasquali SK

    更新日期:2010-08-01 00:00:00

  • Trends in Smoking Behaviors Among US Adolescent Cigarette Smokers.

    abstract:INTRODUCTION:Identifying trends in smoking behaviors among youth cigarette smokers could inform youth policy and interventions. METHODS:Using 2011-2018 National Youth Tobacco Survey data, logistic/linear regressions were used to analyze trends in smoking frequency, intensity, age of first cigarette use, and electronic...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2019-3047

    authors: Azagba S,Manzione L,Shan L,King J

    更新日期:2020-03-01 00:00:00

  • Predictors of survival in children born with Down syndrome: a registry-based study.

    abstract:OBJECTIVE:To examine the influence of fetal and maternal characteristics on the survival of children born with Down syndrome. METHODS:We used prospectively collected population-based data on Down syndrome extracted from the UK Northern Congenital Abnormality Survey (NorCAS), January 1, 1985-December 31, 2003, matched ...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:10.1542/peds.2011-3051

    authors: Rankin J,Tennant PW,Bythell M,Pearce MS

    更新日期:2012-06-01 00:00:00

  • The changing role and responsibilities of chairmen in clinical academic departments: the transition from autocracy.

    abstract::There is considerable literature dealing with the responsibilities of clinical department chairmen, which primarily emphasizes the importance of developing a sound and facilitating administration. This is dependent on the hiring of appropriate support personnel, developing a representative committee structure, being a...

    journal_title:Pediatrics

    pub_type: 杂志文章

    doi:

    authors: Brent RL

    更新日期:1992-07-01 00:00:00