当前位置： SCI文献检索 > EUROPEAN JOURNAL OF PEDIATRICS期刊下所有文献 > Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome.

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 of the tumor surveillance for its early detection. In this report, we describe the outstanding case of a Beckwith-Wiedemann syndrome (BWS) newborn with severe phenotype and paternal chromosome 11 uniparental disomy (UPD11) associated with a high tumor risk. Based on the clinical picture and previous reports, a close monitoring of αFP was commenced. The marker was normal immediately after birth, but rapidly raised in 20 days, leading to the diagnosis of an extremely aggressive hepatoblastoma. The latter was successfully treated with pre-surgical reductive chemotherapy, gross total mass resection, and subsequent chemotherapy. Based on this observation, the tumor surveillance routinely suggested every 3 months should be more intense and with closer time intervals in newborns with severe BWS phenotype. We suggest monitoring neonatal αFP every 20 days in such cases.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

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

doi

10.1007/s00431-011-1455-0

subject

Has Abstract

pub_date

2011-11-01 00:00:00

pages

1407-11

issue

11

eissn

0340-6199

issn

1432-1076

journal_volume

170

pub_type

杂志文章

相关文献

EUROPEAN JOURNAL OF PEDIATRICS文献大全
  • Changes in red cell phosphate metabolism of preterm and fullterm infants with perinatal problems during their first month of life.

    abstract：:The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-007-0464-5

    authors： Cholevas V,Challa A,Lapatsanis PD,Andronikou S

    更新日期：2008-02-01 00:00:00

  • Fatty acid composition of human milk during the 1st month after term and preterm delivery.

    abstract：UNLABELLED:The fatty acid composition of human breast milk was determined longitudinally after term and preterm delivery by high resolution gas liquid chromatography. Milk samples were obtained at days 5, 10, 20 and 30 after term (n = 38) or preterm (n = 19) delivery. The saturated fatty acids C10:0 and C12:0 and the p...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s004310050573

    authors： Genzel-Boroviczény O,Wahle J,Koletzko B

    更新日期：1997-02-01 00:00:00

  • Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

    abstract：:It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-009-1126-6

    authors： Inoue H,Takada H,Kusuda T,Goto T,Ochiai M,Kinjo T,Muneuchi J,Takahata Y,Takahashi N,Morio T,Kosaki K,Hara T

    更新日期：2010-07-01 00:00:00

  • Successful treatment of metastatic βHCG-secreting germ cell tumor occurring 3 years after total resection of a pineal mature teratoma.

    abstract：UNLABELLED:Patients diagnosed with intracranial teratoma are at risk for developing a recurrent malignant germ cell tumor. We describe a 14-year-old boy initially diagnosed with a mature teratoma in the pineal region that recurred as a metastatic beta-human chorionic gonadotropin (βHCG)-secreting germ cell tumor 3 year...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-014-2282-x

    authors： Cardellicchio S,Farina S,Buccoliero AM,Agresti B,Genitori L,de Martino M,Fangusaro J,Sardi I

    更新日期：2014-08-01 00:00:00

  • Ornithine carbamoyl transferase deficiency: a neuropathological study.

    abstract：:A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable in extent, a basic pattern of neuropathological lesions is discernible. Case 1 shows gross cerebral atrophy, cases 2 and 3 milder lesions in the basal nuclei but also multiple cerebellar het...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00572763

    authors： Harding BN,Leonard JV,Erdohazi M

    更新日期：1984-02-01 00:00:00

  • The prevention of preterm birth with the use of antibiotics.

    abstract：UNLABELLED:Infection is a well recognised cause of spontaneous early preterm labour. Preterm labour of infective aetiology is refractory to the use of tocolytic agents and affected women have a higher risk of subsequent chorio-amnionitis and neonatal infection. Antibiotics used prophylactically for the prevention of pr...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/pl00014313

    authors： Lamont RF

    更新日期：1999-12-01 00:00:00

  • Light therapy as treatment of dyschronosis in brain impaired children.

    abstract：:Fourteen children aged 9 months-4 years with moderate to severe mental retardation and varying neurologic lesions were referred for severe and continuous nocturnal sleep disturbances and very abnormal day/night schedules. All children had previously been given hypnotic medications and behavioral treatments which had l...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01953995

    authors： Guilleminault C,McCann CC,Quera-Salva M,Cetel M

    更新日期：1993-09-01 00:00:00

  • Severe X-linked chronic granulomatous disease in two unrelated females.

    abstract：:Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations of one of the subunits of phagocyte reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase leading to decreased or complete absence of neutrophil oxidative burst. We report the clinical and laboratory findings in tw...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-006-0211-3

    authors： Chollet-Martin S,Lopez A,Gaud C,Henry D,Stos B,El Benna J,Chedevile G,Gendrel D,Gougerot-Pocidalo MA,Grandchamp B,Gérard B

    更新日期：2007-02-01 00:00:00

  • Absence epilepsy of early childhood--genetic aspects.

    abstract：:Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. On...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01956423

    authors： Doose H

    更新日期：1994-05-01 00:00:00

  • Paediatric chemical burns: a clinical review.

    abstract：:Although they account for a small proportion of burns in paediatrics, injuries from chemicals can be just as devastating as other mechanisms of burn injury. At least 25,000 chemicals exist which can cause burns: in children, they are often caused by household chemicals via accidental exposure. The mechanism by which c...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-020-03905-z

    authors： Nguyen ATM,Chamberlain K,Holland AJA

    更新日期：2021-01-06 00:00:00

  • Splenic infarction in a child revealing chronic myeloid leukemia.

    abstract：:A 7-year-old girl was admitted with a severe abdominal pain. Abdominal ultrasound and CT revealed a large splenic infarction, leading to the diagnosis of chronic myeloid leukemia. ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-012-1675-y

    authors： Drummond D,Lenoir M,Petit AY

    更新日期：2012-07-01 00:00:00

  • Neurological complications of pandemic influenza A H1N1 2009 infection: European case series and review.

    abstract：:Neurological manifestations and outcomes of children with the 2009 H1N1 virus infection have been reported in three American series and from smaller cohorts and case reports worldwide. Of the 83 children admitted between April 2009 and March 2010 with H1N1 virus infection to a tertiary children's hospital in a Europea...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-010-1392-3

    authors： Surana P,Tang S,McDougall M,Tong CY,Menson E,Lim M

    更新日期：2011-08-01 00:00:00

  • Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements.

    abstract：:Chemically defined or elemental medical foods provide the majority of protein equivalent in the diets of children treated for phenylketonuria (PKU). Because of the restricted intake of high biologic value protein, children with PKU often have lower than normal plasma concentrations of ferritin and zinc. Few reported s...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/pl00014231

    authors： Acosta PB

    更新日期：1996-07-01 00:00:00

  • Use of self-heating gel mattresses eliminates admission hypothermia in infants born below 28 weeks gestation.

    abstract：INTRODUCTION:Hypothermia at birth is strongly associated with mortality and morbidity in pre-term infants. BACKGROUND:A local audit showed limited effectiveness of occlusive wrapping in preventing admission hypothermia in very pre-term infants. Self-heating acetate gel mattresses were introduced as a result to prevent...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-009-1113-y

    authors： Ibrahim CP,Yoxall CW

    更新日期：2010-07-01 00:00:00

  • Maternal use of prednisolone is unlikely to be associated with neonatal adrenal suppression-a single-center study of 16 cases.

    abstract：:The use of supra-physiological, exogenous corticosteroids in pregnancy may lead to neonatal adrenal suppression. We report on a single-center, case series study carried out between 2006 and 2014, which included all newborns (n = 16) of mothers using prednisolone ≥10 mg/day during pregnancy. Newborns were routinely ass...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-017-2949-1

    authors： de Vetten L,van Stuijvenberg M,Kema IP,Bocca G

    更新日期：2017-08-01 00:00:00

  • Foot morphology in normal-weight, overweight, and obese schoolchildren.

    abstract：UNLABELLED:This study compared the foot morphology of Spanish schoolchildren based on their body mass index and age and analyzed whether body mass index affects the child's foot development at primary school. Cross-sectional study of 1,032 schoolchildren (497 boys and 535 girls), 6-12 years old. Height and weight were ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-013-1944-4

    authors： Jiménez-Ormeño E,Aguado X,Delgado-Abellán L,Mecerreyes L,Alegre LM

    更新日期：2013-05-01 00:00:00

  • Disseminated Mycobacterium avium infection in a child with decreased tumour necrosis factor production.

    abstract：UNLABELLED:Disseminated atypical mycobacterium infection is essentially reported in cellular immunodeficient children. Cell-mediated immunity including cytokines like tumour necrosis factor alpha (TNF) and gamma interferon (IFN) is the most important factor allowing control of the dissemination of Mycobacterium. We rep...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s004310050583

    authors： Tuerlinckx D,Vermylen C,Brichard B,Ninane J,Cornu G

    更新日期：1997-03-01 00:00:00

  • Correlation between serum antibody-levels against group B streptococci and gestational age in newborns.

    abstract：:Sera from 33 newborn infants with gestational ages ranging from 27 to 41 weeks were tested by radioimmunoassay for IgG antibodies to surface antigens of group B streptococci (GBS) types Ia, Ib, II and III. Antibody levels to GBS antigens were positively correlated to gestational age and birthweight. However, only the ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00445584

    authors： Christensen KK,Christensen P,Duc G,Höger P,Kind C,Matsunaga T,Müller B,Seger RA

    更新日期：1984-06-01 00:00:00

  • Children's rights in pediatrics.

    abstract：:The United Nations Convention of Children's Rights (UNCRC) introduced in 1989 has generated a global movement for the protection of children's rights and has brought about a paradigm change in how children are perceived. Pediatric healthcare professionals are interacting with children and therefore with children's rig...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,评审

    doi：10.1007/s00431-010-1205-8

    authors： Streuli JC,Michel M,Vayena E

    更新日期：2011-01-01 00:00:00

  • Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?

    abstract：UNLABELLED:Four patients with tyrosinemia type 1 (ages 6-32 months) were treated with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion (NTBC) at Cairo University Children's Hospital, Egypt and followed up for 12-27 months. The recommended average dose of NTBC is 1 mg/kg/day. They were started on the following d...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-009-1090-1

    authors： El-Karaksy H,Rashed M,El-Sayed R,El-Raziky M,El-Koofy N,El-Hawary M,Al-Dirbashi O

    更新日期：2010-06-01 00:00:00

  • Quality control for selective screening of inborn errors of metabolism.

    abstract：:A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical r...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF02138772

    authors： Hommes FA

    更新日期：1994-01-01 00:00:00

  • Performance of PRISM III and PELOD-2 scores in a pediatric intensive care unit.

    abstract：UNLABELLED:The study aims were to compare two models (The Pediatric Risk of Mortality III (PRISM III) and Pediatric Logistic Organ Dysfunction (PELOD-2)) for prediction of mortality in a pediatric intensive care unit (PICU) and recalibrate PELOD-2 in a Portuguese population. To achieve the previous goal, a prospective ...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-015-2533-5

    authors： Gonçalves JP,Severo M,Rocha C,Jardim J,Mota T,Ribeiro A

    更新日期：2015-10-01 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

  • Evaluation of the current use of imaging modalities and pathogen detection in children with acute osteomyelitis and septic arthritis.

    abstract：:Diagnostic tools for the management of acute osteomyelitis (OM) and septic arthritis (SA) have improved over the last decade. To investigate the influence and availability of magnetic resonance imaging (MRI) and nucleic acid testing (NAT), a retrospective cohort study was done. Patients admitted with acute OM or SA be...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-018-3157-3

    authors： Manz N,Krieg AH,Heininger U,Ritz N

    更新日期：2018-07-01 00:00:00

  • Serum levels of carboxyterminal propeptide of type I procollagen in healthy children from 1st year of life to adulthood and in metabolic bone diseases.

    abstract：:Type I collagen is the major component of bone matrix; circulating carboxyterminal propeptide of type I procollagen (P-I-CP) levels reflect type I collagen synthesis in tissues and may be an useful index to investigate bone metabolism. We measured P-I-CP by a new radioimmunoassay in 300 healthy children and adolescent...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF01959087

    authors： Saggese G,Bertelloni S,Baroncelli GI,Di Nero G

    更新日期：1992-10-01 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

    doi：10.1007/BF00647276

    authors： Luck W,Nau H

    更新日期：1987-01-01 00:00:00

  • Variable use of therapeutic interventions for children with human immunodeficiency virus type 1 infection in Europe.

    abstract：UNLABELLED:Although a range of antiretroviral drugs are available for use in children, the appropriate paediatric regimen remains unclear. In a survey to investigate policies and practices relating to the therapeutic management of children infected by the human immunodeficiency virus (HIV), a postal questionnaire was s...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1007/s004310050045

    authors： Bernardi S,Thorne C,Newell ML,Giaquinto C,Tovo PA,Rossi P

    更新日期：2000-03-01 00:00:00

  • Coexistence of polyarteritis nodosa and psoriatic arthritis in a child: an unreported association: Polyarteritis nodosa and Psoriatic arthitritis.

    abstract：:Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-011-1459-9

    authors： Oulego-Erroz I,Gautreaux-Minaya S,Martinez-Sáenz de Jubera J,Naranjo-Vivas D,Fernéndez-Hernández S,Muñíz-Fontán M

    更新日期：2011-09-01 00:00:00

  • Neurodevelopmental outcomes after moderate to severe neonatal hypoglycemia.

    abstract：:The long-term consequences of transient neonatal hypoglycemia are sparsely studied. We performed a follow-up of a cohort of neonates with blood glucose recordings < 1.7 mmol/L (< 30 mg/dL), treated with > 2.5 mmol/L (> 45 mg/dL), compared with healthy siblings. Exclusion criteria were gestational age < 35 weeks, sever...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/s00431-020-03729-x

    authors： Rasmussen AH,Wehberg S,Pørtner F,Larsen AM,Filipsen K,Christesen HT

    更新日期：2020-12-01 00:00:00

  • Anti-glomerular basement membrane antibody-mediated glomerulonephritis due to glue sniffing.

    abstract：:A 16-year-old girl developed rapidly progressive glomerulonephritis and renal failure. The disease was associated with high titres of antiglomerular basement membrane antibodies in serum, linear deposits of immunoglobulin G and diffuse epithelial crescents on renal biopsy. Past history revealed heavy smoking and delib...

    journal_title：European journal of pediatrics

    pub_type： 杂志文章

    doi：10.1007/BF00716479

    authors： Bonzel KE,Müller-Wiefel DE,Ruder H,Wingen AM,Waldherr R,Weber M

    更新日期：1987-05-01 00:00:00