Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot.


:When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease.


Eur J Pediatr


Ito T,Okubo T,Sato H





Has Abstract


2002-03-01 00:00:00












  • Partial anomalous pulmonary vein connection: an underestimated cardiovascular defect in Ullrich-Turner syndrome.

    abstract:UNLABELLED:Congenital cardiovascular defects, commonly affecting the aortic valve or the aortic arch (50% to 70%), are seen in ca. 17%-44% of patients with Ullrich-Turner syndrome (UTS). However, there are only 36 case reports worldwide on the coincidental finding of partial anomalous pulmonary vein connection (PAPVC) ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审


    authors: Bechtold SM,Dalla Pozza R,Becker A,Meidert A,Döhlemann C,Schwarz HP

    更新日期:2004-03-01 00:00:00

  • Impact of ventricular arrhythmias on outcomes in children with myocarditis.

    abstract::Children affected with acute myocarditis may progress rapidly into profound ventricular dysfunction and ventricular arrhythmias. The objective of this study is to assess the impact of ventricular arrhythmias on in-hospital mortality and the use of mechanical circulatory support in patients with myocarditis. Pediatric ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Othman HF,Byrnes J,Elsamny E,Hamzah M

    更新日期:2020-11-01 00:00:00

  • Growth response to growth hormone therapy following craniospinal irradiation.

    abstract::Nineteen (12 male, 7 female) children, who have received craniospinal irradiation for the treatment of a brain tumour distant from the hypothalamic-pituitary axis, resulting in growth hormone (GH) deficiency (CS-PRGHD), have been treated with GH. Eight have completed growth. Comparison has been made with the growth of...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Clayton PE,Shalet SM,Price DA

    更新日期:1988-08-01 00:00:00

  • Leukocyte DNA damage in children with iron deficiency anemia: effect of iron supplementation.

    abstract::Iron deficiency is frequently associated with anemia. Iron is a transition-metal ion, and it can induce free radical formation, which leads to formation of various lesions in DNA, proteins, and lipids. The aim of this study was to investigate baseline oxidative DNA damage and to clarify the role of the administration ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Aksu BY,Hasbal C,Himmetoglu S,Dincer Y,Koc EE,Hatipoglu S,Akcay T

    更新日期:2010-08-01 00:00:00

  • Cytokines in chronic lung disease of prematurity.

    abstract::Chronic lung disease of prematurity (CLD) is a common respiratory disorder of preterm infants. At autopsy, fibroblast proliferation, and components of the extracellular matrix, including collagen and fibronectin, are markedly increased in the lungs of infants who die from CLD. Examination of broncho-alveolar fluid sug...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审


    authors: Kotecha S

    更新日期:1996-08-01 00:00:00

  • Limp as unusual presentation of Langerhans' cell histiocytosis.

    abstract:UNLABELLED:An isolated eosinophilic granuloma involving the posterior elements of a lumbar vertebra is reported in a 3-year-old boy presenting with progressive limp. Radiological investigations revealed osteolysis of the L5 right pedicle. MRI showed a well-defined homogeneous mass with nonspecific signal intensity. An ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bodart E,Nisolle JF,Maton P,Delos M,Trigaux JP,Gilliard C,Tuerlinckx D,Ninane J

    更新日期:1999-05-01 00:00:00

  • Mild closed head injury in children compared to traumatic fractured bone; neurobehavioural sequelae in daily life 2 years after the accident.

    abstract:UNLABELLED:Two years after an accident resulting in either a mild head injury or a fractured bone, two groups of 22 children each, aged 4-14 years, were examined for the existence of any neurobehavioural symptoms by means of a standardized questionnaire filled out by their caretakers. Selection of the children was base...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Overweg-Plandsoen WC,Kodde A,van Straaten M,van der Linden EA,Neyens LG,Aldenkamp AP,Vermeulen M

    更新日期:1999-03-01 00:00:00

  • Development of children with early cytomegalovirus infection.

    abstract::To find out whether cytomegalovirus (CMV) infection during the first months of life influences child development, developmental assessment at the age of 2 years was performed on 116 Finnish children chosen at random in a maternity hospital and followed from birth for the occurrence of CMV infection. Two of the childre...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Granström ML

    更新日期:1979-01-01 00:00:00

  • Blood urea nitrogen to serum creatinine ratio is an accurate predictor of outcome in diarrhea-associated hemolytic uremic syndrome, a preliminary study.

    abstract::Diarrhea-associated hemolytic uremic syndrome (D+HUS) is a common thrombotic microangiopathy during childhood and early identification of parameters predicting poor outcome could enable timely intervention. This study aims to establish the accuracy of BUN-to-serum creatinine ratio at admission, in addition to other pa...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Keenswijk W,Vanmassenhove J,Raes A,Dhont E,Vande Walle J

    更新日期:2017-03-01 00:00:00

  • Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation.

    abstract::A 16-year-old girl is described with abetalipoproteinaemia who underwent liver transplantation for hepatic cirrhosis. After this procedure her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant microsomal triglyceride-transfer protein, rem...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Braegger CP,Belli DC,Mentha G,Steinmann B

    更新日期:1998-07-01 00:00:00

  • Tubular Na, K-ATPase deficiency, the cause of the congenital renal salt-losing syndrome.

    abstract::In the serum of two infant sisters with a congenital renal salt-losing syndrome, Na was rather low and K considerably increased. Even with Na levels of 126 mval/1, sodium was excreted in the urine. Creatinine and hippurate clearances were normal. Primary disturbances of the steroid metabolism were not detectable; plas...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bierich JR,Schmidt U

    更新日期:1976-01-02 00:00:00

  • Growth failure due to protein loss in dermatitis.

    abstract::A 10-month-old infant is described who suffered from extensive atopic dermatitis, failure to thrive, hypoalbuminaemia and oedema. Large amounts of sticky exudate were lost through the skin and were shown to be rich in albumin. As renal and intestinal loss of protein was excluded, the patient's condition was ascribed t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Abrahamov A,Schifmann R,Goldstein R,Tal Y,Freier S

    更新日期:1986-08-01 00:00:00

  • Hepatotoxicity of rifampicin and isoniazid in children treated for tuberculosis.

    abstract::In order to determine the hepatotoxicity of rifampicin in children treated for tuberculosis, a survey was performed of 18 children receiving this medicine in combination with isoniazid. Fifteen of the 18 children (83%) showed a rise in ASAT values and 11 (61%) in ALAT values exceeding 29U/L. Seven children with maxima...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Linna O,Uhari M

    更新日期:1980-09-01 00:00:00

  • Growth, puberty and hypothalamic-pituitary function in children with suprasellar arachnoid cyst.

    abstract:UNLABELLED:A suprasellar arachnoid cyst may cause disorders of growth, puberty and hypothalamic-pituitary function, due to the proximity of the cyst to the hypothalamic-pituitary area. A total of 30 patients (17 boys) with cyst diagnosed at 4.3 +/- 1 years were routinely evaluated at 5.4 +/- 1 years; 24 of them had one...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Adan L,Bussières L,Dinand V,Zerah M,Pierre-Kahn A,Brauner R

    更新日期:2000-05-01 00:00:00

  • Carcinoid and mucoepidermoid bronchial tumours in children.

    abstract:UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Fauroux B,Aynie V,Larroquet M,Boccon-Gibod L,Ducou le Pointe H,Tamalet A,Clément A

    更新日期:2005-12-01 00:00:00

  • Intracellular production of IL-2, IL-4, IFN-gamma, and TNF-alpha by peripheral blood CD3+ and CD4+ T cells in children with atopic dermatitis.

    abstract::The role of the type-2 T helper (Th2) cell-mediated immune response in the immunopathogenesis of atopic dermatitis (AD) is well documented. Whether polarized immunoresponse is confined to antigen-specific T cells or is distributed among all T cell subsets is still controversial. We investigated frequencies of interleu...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Machura E,Mazur B,Kwiecień J,Karczewska K

    更新日期:2007-08-01 00:00:00

  • Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.

    abstract::Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (αFP) dosage is the cornerstone...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Mussa A,Ferrero GB,Ceoloni B,Basso E,Chiesa N,De Crescenzo A,Pepe E,Silengo M,de Sanctis L

    更新日期:2011-11-01 00:00:00

  • Television watching at Greek paediatric hospitals.

    abstract:PURPOSE:The study investigated the television watching habits of children in hospital compared with those at home and the factors which influence them. METHODS:A random sample of 546 school aged children hospitalized in paediatric hospitals (2) in Athens (Greece) was studied. RESULTS:Children's television watching ti...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Matziou V,Zachos I,Kletsiou H,Triantafyllidou A,Tsoumakas C

    更新日期:2006-11-01 00:00:00

  • BT-Paba test in the diagnosis of pancreatic exocrine insufficiency in cystic fibrosis: urinary and serum determinations compared.

    abstract::Urinary recovery and serum determination of Paba were carried out in 48 control children (C) and 53 paediatric patients with cystic fibrosis (CF) divided into three classes by age. Ninety and 120 min after the ingestion of 15 mg/kg of BT-Paba and of a standard meal, serum Paba was determined. In the same subjects the ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bellentani S,Grisendi A,Rinaldi M,Bertolani P,Costa G,Agostini M,Mastella G,Balli F,Manenti F

    更新日期:1984-12-01 00:00:00

  • Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.

    abstract::Two siblings with increased levels of serum phenylalanine were detected by newborn screening. The older sibling deteriorated neurologically and mentally, despite early dietary control, and died at the age of 6 1/2 years. In the younger sibling phenylalanine hydroxylase activity in liver tissue was normal. Further inve...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Gröbe H,Bartholome K,Milstien S,Kaufman S

    更新日期:1978-09-08 00:00:00

  • Growth of children with biliary atresia living with native livers: impact of corticoid therapy after portoenterostomy.

    abstract::We addressed growth of biliary atresia (BA) patients living with native livers between ages 0-6 and effects of post-surgical corticosteroid treatment on growth. Growth charts of 28 BA patients born in Finland between 1987 and 2017 were retrospectively evaluated. Dosage and length of corticosteroid treatment and hydroc...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Ruuska SM,Lääperi MT,Hukkinen M,Jalanko H,Kolho KL,Pakarinen MP

    更新日期:2019-03-01 00:00:00

  • Neurodevelopmental outcome after prenatal exposure to opiates.

    abstract:UNLABELLED:To study the developmental effects of prenatal exposure to opiates, a prospective follow up study of 34 drug-exposed (opiates and nicotine) and 42 reference infants (nicotine exposure only) was conducted from January 1992 to September 1995. At the time of delivery, 12 of 34 mothers used opiates without medic...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bunikowski R,Grimmer I,Heiser A,Metze B,Schäfer A,Obladen M

    更新日期:1998-09-01 00:00:00

  • Stepwise interventional approach in a neonate with pulmonary valve atresia and intact ventricular septum.

    abstract:UNLABELLED:In neonates with pulmonary atresia and intact ventricular septum the aims of therapy are maintenance of pulmonary blood flow and right ventricular decompression in order to achieve right ventricular support of the pulmonary circulation. Recent developments in interventional heart catheterization with pulmona...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Bökenkamp R,Kaulitz R,Paul T,Hausdorf G

    更新日期:1998-11-01 00:00:00

  • Ethical and psychological aspects of living donorship and life with a donated organ.

    abstract::There is far-reaching consent in the literature that public and consensual agreements on the basics of the different aspects of medical ethics are inalienable before the instigation of any innovative transplant procedure. In the case of a certain method and/or of an individual patient, however, the ultimate ethical ev...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Wolff G

    更新日期:1992-01-01 00:00:00

  • Liver transplantation in urea cycle disorders.

    abstract::We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymat...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Saudubray JM,Touati G,Delonlay P,Jouvet P,Narcy C,Laurent J,Rabier D,Kamoun P,Jan D,Revillon Y

    更新日期:1999-12-01 00:00:00

  • Risk factors for hyperbilirubinemia in breastfed term neonates.

    abstract:UNLABELLED:Increased breastfeeding was suggested as a contributing factor to significant hyperbilirubinemia. The aim of this study was to identify the risk factors associated with jaundice in exclusively breastfed term neonates. We retrospectively reviewed all consecutively live-born neonates from August 2009 to July 2...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Chen YJ,Chen WC,Chen CM

    更新日期:2012-01-01 00:00:00

  • Adrenal crises in children with adrenal insufficiency: epidemiology and risk factors.

    abstract::The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Eyal O,Levin Y,Oren A,Zung A,Rachmiel M,Landau Z,Schachter-Davidov A,Segev-Becker A,Weintrob N

    更新日期:2019-05-01 00:00:00

  • Nicotine and cotinine concentrations in the milk of smoking mothers: influence of cigarette consumption and diurnal variation.

    abstract::The relationship between nicotine and cotinine concentrations in mother's milk (including 24 h profiles) and the number of cigarettes consumed was studied. A total of 206 milk samples were collected from 34 nursing, smoking mothers. The mothers were distributed into three groups: Group I (1-10 cigarettes/day), group I...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Luck W,Nau H

    更新日期:1987-01-01 00:00:00

  • Day case paediatric tonsillectomy: a quality improvement project.

    abstract::Tonsillectomy is one of the commonest ENT paediatric procedures. Recovery is best achieved at home, and cost-effectiveness of the day case pathway is significant in tonsillectomy. This project scrutinised the local practice regarding the effectiveness of day case pathway in paediatric tonsillectomy in a large regional...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Atfeh MS,Richardson-May J,Rainsbury J

    更新日期:2018-11-01 00:00:00

  • Human metapneumovirus infections cause similar symptoms and clinical severity as respiratory syncytial virus infections.

    abstract::Human metapneumovirus (hMPV) is a recently discovered pathogen in respiratory tract infection. The published literature suggests milder illness severity in hMPV compared with respiratory syncytial virus (RSV) infection. In two consecutive seasons, 637 nasopharyngeal aspirates from pediatric patients were tested by hMP...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章


    authors: Wilkesmann A,Schildgen O,Eis-Hübinger AM,Geikowski T,Glatzel T,Lentze MJ,Bode U,Simon A

    更新日期:2006-07-01 00:00:00