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) in UTS. In 4 out of 108 patients with UTS seen in our clinic, PAPVC was suspected echocardiographically and confirmed by angiography in three patients. Surgical correction was performed in one patient with right ventricular enlargement. PAPVC can lead to right ventricular volume load and hypertrophy in adolescence. Early diagnosis and when necessary treatment is recommended. CONCLUSION:cardiological evaluation in patients with Ullrich-Turner syndrome should pay special attention to partial anomalous pulmonary vein connection.

journal_name

Eur J Pediatr

authors

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

doi

10.1007/s00431-003-1384-7

keywords:

subject

Has Abstract

pub_date

2004-03-01 00:00:00

pages

158-62

issue

3

eissn

0340-6199

issn

1432-1076

journal_volume

163

pub_type

杂志文章,评审
  • Sonography of subependymal cysts in congenital rubella syndrome.

    abstract::Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonogra...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00441403

    authors: Beltinger C,Saule H

    更新日期:1988-12-01 00:00:00

  • Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.

    abstract::Phenylketonuria's (PKU) treatment based on low-protein diet may affect other metabolic pathways, such as that of asymmetric dimethylarginine (ADMA). The aim of this study was to evaluate the reliability of ADMA as a biomarker of adequate metabolic control and possible nutritional risk in a long-term PKU patient popula...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s00431-019-03365-0

    authors: Andrade F,Villate O,Couce ML,Bueno MA,Alcalde C,de Las Heras J,Ceberio L,Núñez-Marcos S,Nambo PS,Aldámiz-Echevarría L

    更新日期:2019-06-01 00:00:00

  • Changes in serum lipid and lipoprotein concentrations and compositions at birth and after 1 month of life in macrosomic infants of insulin-dependent diabetic mothers.

    abstract::The aim of this study was to determine whether macrosomia related to maternal diabetes alters lipoprotein metabolism and whether these abnormalities still persist or regress after 1 month of life. Serum lipoprotein compositions and concentrations as well as serum lipid fatty acid compositions were investigated in macr...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310051194

    authors: Merzouk H,Madani S,Prost J,Loukidi B,Meghelli-Bouchenak M,Belleville J

    更新日期:1999-09-01 00:00:00

  • Comparison of atrophic and goitrous auto-immune thyroiditis in children: clinical, laboratory and TSH-receptor antibody studies.

    abstract::We studied the clinical features, laboratory and thyroid functions and thyrotropin (TSH)-receptor and thyroid-stimulation antibodies in 21 patients with atrophic auto-immune thyroiditis (AAT) and 48 patients with goitrous auto-immune thyroiditis (GAT) of childhood onset. The clinical features of patient with AAT were ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01957685

    authors: Matsuura N,Konishi J,Yuri K,Harada S,Fujieda K,Nohara Y,Mikami Y,Kasagi K,Iida Y,Hosoda A

    更新日期:1990-05-01 00:00:00

  • Identification of the triploid genome by the C-banding method.

    abstract::We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00442640

    authors: Kunze J,Oldigs HD,Tolksdorf M

    更新日期:1976-09-01 00:00:00

  • Click-evoked oto-acoustic emission measurement in preterm infants.

    abstract:UNLABELLED:Click-evoked oto-acoustic emissions (CEOAE) are acoustic responses produced by the inner ear, reflecting functional auditory integrity. We studied both the success rate of the CEOAE method and the CEOAE presence in preterm infants during their stay at the Neonatal Intensive Care Unit (NICU), by analysis of t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310050986

    authors: Brienesse P,Maertzdorf WJ,Anteunis LJ,Manni JJ,Blanco CE

    更新日期:1998-12-01 00:00:00

  • Revised recommendations for the management of Gaucher disease in children.

    abstract:UNLABELLED:Gaucher disease is an inherited pan-ethnic disorder that commonly begins in childhood and is caused by deficient activity of the lysosomal enzyme glucocerebrosidase. Two major phenotypes are recognized: non-neuropathic (type 1) and neuropathic (types 2 and 3). Symptomatic children are severely affected and m...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-012-1771-z

    authors: Kaplan P,Baris H,De Meirleir L,Di Rocco M,El-Beshlawy A,Huemer M,Martins AM,Nascu I,Rohrbach M,Steinbach L,Cohen IJ

    更新日期:2013-04-01 00:00:00

  • Pulmonary involvement in Niemann-Pick C type 1.

    abstract::Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-018-3219-6

    authors: Staretz-Chacham O,Aviram M,Morag I,Goldbart A,Hershkovitz E

    更新日期:2018-11-01 00:00:00

  • Arginine-vasopressin in neonates with vasodilatory shock after cardiopulmonary bypass.

    abstract:UNLABELLED:Successful therapy of vasodilatory shock in adults and children with arginine-vasopressin (AVP) has been reported previously. Data on the use of vasopressin in neonates is limited. This retrospective study reports the effects of AVP-treatment in neonates with catecholamine-resistant systemic vasodilatation a...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-006-0400-0

    authors: Lechner E,Hofer A,Mair R,Moosbauer W,Sames-Dolzer E,Tulzer G

    更新日期:2007-12-01 00:00:00

  • Treatment of status epilepticus with thiopentone sodium anaesthesia in a child.

    abstract::A 4-month-old infant was admitted to the Pediatric Intensive Care Unit with Pneumococcal meningitis. A few hours after admission he developed intractable convulsions that could not be stopped with phenytoin, phenobarbitone and a continuous drip of diazepam. Thiopentone sodium anaesthesia was induced for 24 h terminati...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF00441663

    authors: Goitein KJ,Mussaffi H,Melamed E

    更新日期:1983-04-01 00:00:00

  • Unexpected side-effects of inhaled steroids: a case report.

    abstract::An asthmatic child is presented who developed a cushingoid appearance with evidence of adrenal suppression and growth impairment while on low dose inhaled topical steroids. When the inhaled steroids were replaced by inhaled sodium cromoglycate his adrenal function recovered while his appearance and growth returned to ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02093730

    authors: Priftis K,Everard ML,Milner AD

    更新日期:1991-04-01 00:00:00

  • Regulation of galactose-1-phosphate uridyltransferase gene expression.

    abstract::Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF02143799

    authors: Heidenreich RA

    更新日期:1995-01-01 00:00:00

  • Serum IgG subclass concentrations in healthy subjects at different age: age normal percentile charts.

    abstract::IgG subclass levels were determined in 448 normal children from 6 months to 18 years of age and in 141 healthy adults by radial immunodiffusion using monoclonal antibodies. Age-normal percentile values were calculated for each year of age up to 18 years for IgG1, IgG2, IgG3 and in adults for all four subclasses. The b...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF01958271

    authors: Plebani A,Ugazio AG,Avanzini MA,Massimi P,Zonta L,Monafo V,Burgio GR

    更新日期:1989-12-01 00:00:00

  • Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies.

    abstract::Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/BF01956139

    authors: Trijbels JM,Scholte HR,Ruitenbeek W,Sengers RC,Janssen AJ,Busch HF

    更新日期:1993-03-01 00:00:00

  • Female genital mutilation and its prevention: a challenge for paediatricians.

    abstract::Female genital mutilation (FGM) is defined as an injury of the external female genitalia for cultural or non-therapeutic reasons. FGM is mainly performed in sub-Saharan and Eastern Africa. The western health care systems are confronted with migrants from this cultural background. The aim is to offer information on how...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-008-0702-5

    authors: Jaeger F,Caflisch M,Hohlfeld P

    更新日期:2009-01-01 00:00:00

  • New hospital-based policy for children whose parents present at the ER due to domestic violence, substance abuse and/or a suicide attempt.

    abstract::Child maltreatment is a major social problem with many adverse consequences, and a substantial number of maltreated children are not identified by health care professionals. In 2010, in order to improve the identification of maltreated children in hospitals, a new hospital-based policy was developed in Amsterdam, The ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-012-1869-3

    authors: Hoytema van Konijnenburg EM,Sieswerda-Hoogendoorn T,Brilleslijper-Kater SN,van der Lee JH,Teeuw AH

    更新日期:2013-02-01 00:00:00

  • Alcohol and cigarette use among adolescents with type 1 diabetes.

    abstract::In this study, we compare the prevalence of alcohol and cigarette use among Polish adolescents with type 1 diabetes mellitus (T1DM) (n = 209), aged 15-18 years, with that of a large cohort of their healthy peers, using standardized questionnaire used in the European School Survey Project on Alcohol and Drugs (ESPAD). ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2895-y

    authors: Hogendorf AM,Fendler W,Sierosławski J,Bobeff K,Węgrewicz K,Malewska KI,Przudzik MW,Szmigiero-Kawko M,Sztangierska B,Myśliwiec M,Szadkowska A,Młynarski WM

    更新日期:2017-06-01 00:00:00

  • Ethical issues about the paradigm shift in the treatment of children with trisomy 18.

    abstract::Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-019-03531-4

    authors: Silberberg A,Robetto J,Grimaux G,Nucifora L,Moreno Villares JM

    更新日期:2020-03-01 00:00:00

  • Unilateral decompressive craniectomy for children with severe brain injury. Report of seven cases and review of the relevant literature.

    abstract:UNLABELLED:Severe head injuries in children (under 15 years of age) have many features that differentiate them from head injuries in adults. In such cases, non-surgical treatment cannot always prevent fatal herniation. We report on seven cases of children with severe head injury, presenting with decorticate posturing a...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-001-0864-x

    authors: Hejazi N,Witzmann A,Fae P

    更新日期:2002-02-01 00:00:00

  • Clinical profile, viral load, management and outcome of neonates born to COVID 19 positive mothers: a tertiary care centre experience from India.

    abstract::Despite rapidly evolving knowledge about COVID 19 infection, routes of perinatal COVID 19 transmission and viral load in mother neonate dyad remain uncertain. Data were analysed to describe the clinicodemographic profile and viral load in neonates born to COVID 19 positive mothers. Of 2947 deliveries, 69 mothers were ...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-020-03800-7

    authors: Anand P,Yadav A,Debata P,Bachani S,Gupta N,Gera R

    更新日期:2021-02-01 00:00:00

  • Arterial versus venous lactate: a measure of sepsis in children.

    abstract::This study assessed the agreement between arterial and venous blood lactate and pH levels in children with sepsis. This retrospective, three-year study involved 60 PICU patients, with data collected from electronic or paper patient records. The inclusion criteria comprised of children (≤17 years old) with sepsis and t...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-2925-9

    authors: Samaraweera SA,Gibbons B,Gour A,Sedgwick P

    更新日期:2017-08-01 00:00:00

  • Development of a core set of quality indicators for paediatric primary care practices in Europe, COSI-PPC-EU.

    abstract::Paediatric ambulatory healthcare systems in Europe are, because of historical reasons, diverse and show strikingly different outcomes. All across Europe, the benchmarking of structures, processes and outcomes could reveal opportunities for improving Paediatric Primary Care (PPC). The aim of this study was to develop a...

    journal_title:European journal of pediatrics

    pub_type: 共识发展会议,杂志文章

    doi:10.1007/s00431-018-3140-z

    authors: Ewald DA,Huss G,Auras S,Caceres JR,Hadjipanayis A,Geraedts M

    更新日期:2018-06-01 00:00:00

  • Eponym : Rasmussen syndrome.

    abstract::Rasmussen's syndrome (RS) is a rare acquired progressive inflammatory encephalopathy characterized by drug-resistant partial seizures and cognitive deterioration resulting from a gradual impairment and a subsequent atrophy of a single brain hemisphere. It was firstly described by Theodore Rasmussen in 1958. The origin...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-010-1148-0

    authors: Mastrangelo M,Mariani R,Menichella A

    更新日期:2010-08-01 00:00:00

  • Complications of childhood Sjögren syndrome.

    abstract:UNLABELLED:Sjögren syndrome (SS) is a common disorder in adults and involves both glandular and extraglandular systems. We report here four cases of childhood SS complicated by chronic thyroiditis, interstitial nephritis or sweat gland inflammation. Additionally, in one of these cases, the central nervous system was in...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02282840

    authors: Kobayashi I,Furuta H,Tame A,Kawamura N,Kojima K,Endoh M,Okano M,Sakiyama Y

    更新日期:1996-10-01 00:00:00

  • Investigation of Clostridium difficile ribotypes in symptomatic patients of a German pediatric oncology center.

    abstract::In a German pediatric oncology unit, the attending physicians diagnosed 27 cases of Clostridium difficile-associated disease (CDI) from January 01, 2010 to October 31, 2013. This refers to a CDI incidence density of 2.0/1000 inpatient days. According to the hospital hygiene standard, symptomatic patients with CDI were...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-017-3070-1

    authors: Simon A,Mock M,Graf N,von Müller L

    更新日期:2018-03-01 00:00:00

  • Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.

    abstract:UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s004310000652

    authors: Okano Y,Fujimoto A,Miyagi T,Hirono A,Miwa S,Niihira S,Hirokawa H,Yamano Y

    更新日期:2001-02-01 00:00:00

  • Use of insulin pump therapy is associated with reduced hospital-days in the long-term: a real-world study of 48,756 pediatric patients with type 1 diabetes.

    abstract::In pediatric diabetes, insulin pump therapy is associated with less acute complications but inpatient pump education may lead to more hospital days. We investigated the number of hospital days associated with pump vs. injection therapy between 2009 and 2018 in 48,756 patients with type 1 diabetes < 20 years of age fro...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-020-03883-2

    authors: Auzanneau M,Karges B,Neu A,Kapellen T,Wudy SA,Grasemann C,Krauch G,Gerstl EM,Däublin G,Holl RW

    更新日期:2021-02-01 00:00:00

  • Complications of percutaneous liver biopsy in infants and children.

    abstract:UNLABELLED:In this study, 144 consecutive percutaneous liver biopsies performed with a 1.6 mm Menghini needle, during a 2-year period were reviewed. All the children were aged under 15 years, 57 patients less than 1 year and 87 more than 1 year. All biopsies were adequate and the mean number of portal tracts examined w...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/BF02079063

    authors: Lachaux A,Le Gall C,Chambon M,Regnier F,Loras-Duclaux I,Bouvier R,Pinzaru M,Stamm D,Hermier M

    更新日期:1995-08-01 00:00:00

  • Ethical principles and legal requirements for pediatric research in the EU: an analysis of the European normative and legal framework surrounding pediatric clinical trials.

    abstract::The involvement of minors in clinical research is inevitable to catch up with the lack of drugs labeled for pediatric use. To encourage the responsible conduct of pediatric clinical trials in the EU, an extensive legal framework has been developed over the past decade in which the practical, ethical, legal, social, an...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章

    doi:10.1007/s00431-008-0915-7

    authors: Pinxten W,Dierickx K,Nys H

    更新日期:2009-10-01 00:00:00

  • Detection, diagnosis, and prevention of child abuse: the role of the pediatrician.

    abstract::It is the pediatrician's role to promote the child's well-being and to help parents raise healthy, well-adjusted children. Today's pediatricians are confronted with a patient population in which there is a high prevalence of child abuse in its different presentations (physical, sexual, and psychological abuse and/or n...

    journal_title:European journal of pediatrics

    pub_type: 杂志文章,评审

    doi:10.1007/s00431-011-1616-1

    authors: Marchand J,Deneyer M,Vandenplas Y

    更新日期:2012-01-01 00:00:00