Chromosome deletion and multiple cartilaginous exostoses.

abstract：:We report the case of 5-week-old male infant who presented as a 'near miss cot death'. He had the immunodeficient syndrome of defective neutrophil mobility and delayed umbilical cord separation. He was shown to have staphylococcal endocarditis with a large vegetation on the mitral valve, and acute obstruction of the m...

journal_title：European journal of pediatrics

authors： Walters MD,Deanfield JE,Robinson PJ,Matthew DJ

更新日期：1986-12-01 00:00:00

abstract：:Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this ret...

journal_title：European journal of pediatrics

authors： Heiwegen K,van Heijst AF,Daniels-Scharbatke H,van Peperstraten MC,de Blaauw I,Botden SM

更新日期：2020-06-01 00:00:00

abstract：:A 2-month-old infant was admitted to hospital because of recurrent vomiting for 1 week, progressive apathy, and focal seizures. The cranial MRI showed a noticeable result. ...

journal_title：European journal of pediatrics

authors： Larsen A,Martin C,Meyer S,Rohrer T,Papanagiotou P,van der Knaap M,Gortner L

更新日期：2012-06-01 00:00:00

abstract：:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...

journal_title：European journal of pediatrics

authors： Danks DM

更新日期：1991-01-01 00:00:00

abstract：:The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...

journal_title：European journal of pediatrics

authors： Güttler F,Guldberg P

更新日期：1996-07-01 00:00:00

abstract：UNLABELLED:It has been suggested that chronic treatment with L-thyroxine (L-T4) could be implicated in reducing bone mineral density (BMD). The purpose of this longitudinal study was to determine whether appendicular and axial BMD is decreased by L-T4 treatment in adolescent girls. Thirteen adolescent girls with subcli...

journal_title：European journal of pediatrics

authors： Saggese G,Bertelloni S,Baroncelli GI,Costa S,Ceccarelli C

更新日期：1996-06-01 00:00:00

abstract：:A combination of humoral immunodeficiency and isolated growth hormone deficiency was observed in a girl with Mulibrey nanism. The humoral immunodeficiency consisted of subnormal concentration of serum IgG, in particular IgG2 and IgG4, and low concentration of serum IgM. Serum IgA and IgD were elevated, IgE was absent....

journal_title：European journal of pediatrics

authors： Haraldsson A,van der Burgt CJ,Weemaes CM,Otten B,Bakkeren JA,Stoelinga GB

更新日期：1993-06-01 00:00:00

abstract：:This is apparently the first report on connatal hemihypertrophy with malignant pheochromocytoma. The coincidence of hemihypertrophy with other diseases, particularly neuroectodermal dysplasias on the one hand and the frequent association of neuroectodermal dysplasias with pheochromocytoma on the other, are emphasized....

journal_title：European journal of pediatrics

authors： Schnakenburg KV,Müller M,Dörner K,Harms D,Schwarze EW

更新日期：1976-07-12 00:00:00

abstract：UNLABELLED:Group A streptococcal (GAS) infection is the most common cause of bacterial pharyngitis and has an important role in the pathogenesis of post-infective phenomena including rheumatic fever and glomerulonephritis. Mortality from GAS is uncommon, particularly in the paediatric population. Toxic shock syndrome r...

journal_title：European journal of pediatrics

authors： Watkins R,Vyas H

更新日期：2002-09-01 00:00:00

abstract：:The main ethical imperative of all paediatric actions is the demand to do everything "in the best interests of children". Relevant guidelines can be derived from the UN Declaration on the Rights of Children, whereupon every child has the fundamental right to life and dignity, and is entitled to optimal medical care. P...

journal_title：European journal of pediatrics

authors： Kurz R,Gill D,Mjones S,Ethics Working Group of Confederation of European Specialists in Paediatrics.

更新日期：2006-02-01 00:00:00

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

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

更新日期：2017-03-01 00:00:00

abstract：:Spontaneous pneumomediastinum is uncommon in paediatric practice. We describe two cases of spontaneous pneumomediastinum in a child and an adolescent with anorexia nervosa. Thorough investigation failed to reveal any underlying cause for secondary pneumomediastinum. Pneumomediastinum in anorexia nervosa can be caused ...

journal_title：European journal of pediatrics

authors： van Veelen I,Hogeman PH,van Elburg A,Nielsen-Abbring FW,Heggelman BG,Mahieu HF

更新日期：2008-02-01 00:00:00

abstract：:Vitamin K prophylaxis in infancy aims to prevent life-threatening vitamin K deficiency bleeding (VKDB). The Dutch prophylactic oral daily regimen was increased sixfold from 25 to 150 μg because of a high failure rate. To evaluate the efficacy of this new regimen, incidences of intracranial VKDB under both regimens wer...

journal_title：European journal of pediatrics

authors： Löwensteyn YN,Jansen NJG,van Heerde M,Klein RH,Kneyber MCJ,Kuiper JW,Riedijk MA,Verlaat CWM,Visser IHE,van Waardenburg DA,van Hasselt PM

更新日期：2019-07-01 00:00:00

abstract：UNLABELLED:Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder commonly prevalent in children worldwide including Thailand. However, there are very few studies thus far addressing risk factors for ASD in Thai children. This case-control study aims to investigate whether various risk factors es...

journal_title：European journal of pediatrics

authors： Khaiman C,Onnuam K,Photchanakaew S,Chonchaiya W,Suphapeetiporn K

更新日期：2015-10-01 00:00:00

abstract：UNLABELLED:A newborn boy was referred to our hospital because of hemolytic anemia and severe hyperbilirubinemia. Extensive investigations aimed at determining the cause of hemolysis was initiated at the time of admission and 3 months after blood transfusion. Notably, no intrinsic erythrocyte abnormalities could be dete...

journal_title：European journal of pediatrics

authors： Vos MJ,Martens D,van de Leur SJ,van Wijk R

更新日期：2014-12-01 00:00:00

abstract：UNLABELLED:During the last decade, much concern has been expressed about online pro-eating disorder communities (e.g., pro-anorexia websites and blogs) which encourage their users to engage in disordered eating behavior. The aim of the current paper is to reemphasize the importance of pro-eating disorder communities in...

journal_title：European journal of pediatrics

authors： Custers K

更新日期：2015-04-01 00:00:00

abstract：:Clinical, morphological, ultrastructural and immunological studies were performed in a case of congenital self-healing non-Langerhans cell histiocytosis. The patient showed several aspects that have not been published before: a large nodule in the vulvar region, vesiculobullous elements and pneumonia (asymptomatic). T...

journal_title：European journal of pediatrics

authors： Oranje AP,Vuzevski VD,de Groot R,Prins ME

更新日期：1988-10-01 00:00:00

abstract：:The results of 24 h oesophageal pH monitoring, performed in 129 infants aged 6-10 weeks, were compared to those in the same patients after shorter periods (3, 6, 9 and 12 h). In the investigated population there was no significant difference between the reflux index (percentage of time with a pH < 4.0) after 12 or 24 ...

journal_title：European journal of pediatrics

authors： Vandenplas Y,Casteels A,Naert M,Derde MP,Blecker U

更新日期：1994-02-01 00:00:00

abstract：:A developmental approach to the management of sleep disturbances was successful in 85% (44/52) of the children (aged 2-36 months) within 2-6 weeks. No drugs were used. The approach was based on the following two principles: taking into account the characteristics of sleep behavior in infants and young children by sett...

journal_title：European journal of pediatrics

authors： Largo RH,Hunziker UA

更新日期：1984-08-01 00:00:00

abstract：:We aimed to assess the prevalence and outcomes of esophageal perforation in very low birth weight infants. This retrospective cohort study utilized the US National Inpatient Sample dataset for the years 2000 to 2017. A total of 1,755,418 very low birth weight infants were included; of them, 861 (0.05%) were diagnosed ...

journal_title：European journal of pediatrics

authors： Elgendy MM,Othman H,Aly H

更新日期：2021-02-01 00:00:00

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

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

更新日期：2018-11-01 00:00:00

abstract：:Resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 26 prepubertal children divided into three groups: (1) children with both parents obese (n = 8, group OB2); (2) children with no obese parents and without familial history of obesity (n = 8, OB0); and (3) normal body weight...

journal_title：European journal of pediatrics

authors： Maffeis C,Schutz Y,Zoccante L,Pinelli L

更新日期：1993-02-01 00:00:00

abstract：:Severe hand, foot, and mouth disease (HFMD) is likely to develop critical complications such as brainstem encephalitis, acute pulmonary edema, and circulatory failure, which cause child mortality during outbreaks. This study aims to investigate factors that predict the severity of HFMD. One hundred sixteen in-patient ...

journal_title：European journal of pediatrics

authors： Li Y,Dang S,Deng H,Wang W,Jia X,Gao N,Li M,Wang J

更新日期：2013-05-01 00:00:00

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

authors： Pinxten W,Dierickx K,Nys H

更新日期：2009-10-01 00:00:00

abstract：UNLABELLED:Utilization of complementary and alternative medicine (CAM) among children/adolescents is popular. This review summarizes the international findings for prevalence and predictors of CAM use among children/adolescents. We therefore systematically searched four electronic databases (PubMed, Embase, PsycINFO, A...

journal_title：European journal of pediatrics

authors： Italia S,Wolfenstetter SB,Teuner CM

更新日期：2014-11-01 00:00:00

abstract：:We evaluated chronic kidney disease (CKD) (proteinuria or estimated glomerular filtration rate < 60 mL/min/1.73 m2) or hypertension prevalence in 110 children with juvenile idiopathic arthritis (JIA). CKD and hypertension were clustered under the umbrella term of "renal injury". Median age at the last visit was 14 yea...

journal_title：European journal of pediatrics

authors： Gicchino MF,Di Sessa A,Guarino S,Miraglia Del Giudice E,Olivieri AN,Marzuillo P

更新日期：2021-02-01 00:00:00

abstract：UNLABELLED:The objective of this analysis was to determine the relationship between wheezing at different age groups in children and the prevalence of bronchial hyperreactivity at the age of 10. A population-based cross-sectional study was conducted in Leipzig and the region around Halle in Germany. Of 3105 10-year-old...

journal_title：European journal of pediatrics

authors： Wjst M,Dold S,Roell G,Reitmeir P,Fritzsch C,von Mutius E,Thiemann HH

更新日期：1994-09-01 00:00:00

abstract：:To evaluate the feasibility and clinical usefulness of immunocytochemical detection of bone marrow metastases in neuroblastoma, we studied bone marrow samples from patients undergoing intensive therapy, followed in the majority of cases by autologous bone marrow rescue. Two monoclonal antibodies were used in an indire...

journal_title：European journal of pediatrics

authors： Beck D,Maritaz O,Gross N,Favrot M,Vultier N,Bailly C,Villa I,Gentilhomme O,Philip T

更新日期：1988-08-01 00:00:00

abstract：UNLABELLED:Storage of human breast milk by freezing or refrigeration of milk with and without heating have been recommended. This can hardly be avoided because of the social circumstances of most mothers who are regularly separated from their infants because of work or schooling as well as the particular needs of some ...

journal_title：European journal of pediatrics

authors： Ogundele MO

更新日期：2000-11-01 00:00:00

abstract：:A technetium-99m pertechnetate Meckel scan is the standard diagnostic test to diagnose Meckel diverticulum. Although a negative scan does not exclude Meckel diverticulum, it should be kept in mind that the diagnosis can be missed on the basis of a single negative scan. Another important point is the typical position o...

journal_title：European journal of pediatrics

authors： El-Matary W,Roseman D,Lees G,Maguire C

更新日期：2009-12-01 00:00:00