Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients.

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：:The aim of this retrospective study was to describe the epidemiology and spectrum of infections of admitted pediatric refugees and asylum seekers in a tertiary referral hospital in a high-income country in Europe. We identified recent refugees and asylum seekers < 18 years of age admitted to the University Children's ...

journal_title：European journal of pediatrics

authors： Pohl C,Mack I,Schmitz T,Ritz N

更新日期：2017-12-01 00:00:00

abstract：:This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a "new" probably monogenic syndrome. ...

journal_title：European journal of pediatrics

authors： Pfeiffer RA,Singer H,Zschiesche S

更新日期：1987-01-01 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：:We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD. ...

journal_title：European journal of pediatrics

authors： Hetzel PG,Glanzmann R,Günthard J,Bruder E,Godi E,Bührer C

更新日期：2007-06-01 00:00:00

abstract：:Complex regional pain syndrome (CRPS) is a condition of unknown etiology characterized by autonomic, sensory, and motor disturbance. CRPS usually follows an injury in the affected limb, which is often trivial in nature. CRPS involving the facial region is rare, and there have been no previous descriptions in children....

journal_title：European journal of pediatrics

authors： Goenka A,Aziz M,Riley P,Vassallo G

更新日期：2014-03-01 00:00:00

abstract：:We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) with suspected hypogonadism. All subjects received a single injection of hCG (5000 U/1.7 m2) and 1 month later,...

journal_title：European journal of pediatrics

authors： Kauschansky A,Frydman M,Nussinovitch M,Varsano I

更新日期：1995-11-01 00:00:00

abstract：:Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the scree...

journal_title：European journal of pediatrics

authors： Mathias D,Bickel H

更新日期：1985-07-01 00:00:00

abstract：UNLABELLED:Inflammation of the gastric and duodenal mucosa is the end result of an imbalance between mucosal defensive and aggressive factors. The degree of inflammation and imbalance between defensive and aggressive factors can then result in varying degrees of gastritis and/or frank mucosal ulceration. Gastritis and ...

journal_title：European journal of pediatrics

authors： Blecker U,Gold BD

更新日期：1999-07-01 00:00:00

abstract：:Palivizumab utilization, compliance, and outcomes were examined in infants with preexisting medical diseases within the Canadian Registry Database (CARESS) to aid in developing guidelines for potential "at-risk" infants in the future. Infants who received ≥1 dose of palivizumab during the 2006-2010 respiratory syncyti...

journal_title：European journal of pediatrics

authors： Paes B,Mitchell I,Li A,Lanctôt KL

更新日期：2012-05-01 00:00:00

abstract：UNLABELLED:Growth hormone (GH) secretion was determined by evaluating circadian GH profiles for 24 h and GH responses to clonidine stimulation test and insulin-stimulated hypoglycaemia (ITT), in nine prepubertal children with beta-thalassaemia major (TM) and 17 with non-GH deficient short stature (NGHDSS). The TM child...

journal_title：European journal of pediatrics

authors： Katzos G,Harsoulis F,Papadopoulou M,Athanasiou M,Sava K

更新日期：1995-06-01 00:00:00

abstract：UNLABELLED:In a national prospective study of risk factors for mother-to-child transmission of human immunodeficiency virus (HIV), 316 children of HIV-positive mothers were followed up for at least 6 months. Infection status was determined in 254 of them and 46 were found to be infected giving a transmission rate of 18...

journal_title：European journal of pediatrics

authors： Kind C

更新日期：1995-07-01 00:00:00

abstract：:Protein C deficiency can lead to cerebrovascular occlusive disease. We describe a patient in whom heterozygous protein C deficiency (type 1) is suspected on the grounds of reduced protein C activity and who suffered from multiple thrombo-embolic events involving the brain and peripheral organs. The patient developed h...

journal_title：European journal of pediatrics

authors： Schmitt S,Auberger K,Fendel T,Kiess W

更新日期：1992-06-01 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：:Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL) are among the most common malignancies of childhood. (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) can be employed for accurate staging, treatment planning, and response assessment in pediatric patients with lymphomas, taking advantage of the inc...

journal_title：European journal of pediatrics

authors： Sioka C

更新日期：2013-06-01 00:00:00

abstract：UNLABELLED:Sublingual immunotherapy (SLIT) is the only therapeutic option for allergic rhinitis (AR) that modifies the immunological process to an allergen, rather than treating symptoms simply. However, its regulatory mechanisms are largely unknown. B-cell-activating factor of the TNF family (BAFF) plays very importan...

journal_title：European journal of pediatrics

authors： Luo R,Liu W,Wang J,Chen Y,Sun C,Zhou L,Li Y,Deng L

更新日期：2014-08-01 00:00:00

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

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

更新日期：1993-09-01 00:00:00

abstract：:The first Scandinavian cases of Zellweger syndrome (ZS) are described. A brother and sister, children of first cousins, had the typical clinical symptoms and pathological findings. Extensive metabolic studies in the boy were negative. Pipecolic acid in the urine was not elevated. Both children died at 14 weeks of age....

journal_title：European journal of pediatrics

authors： Brun A,Gilboa M,Meeuwisse GW,Nordgren H

更新日期：1978-04-20 00:00:00

abstract：:Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset ad...

journal_title：European journal of pediatrics

authors： Yang F,Hanaki K,Kinoshita T,Kawashima Y,Nagaishi J,Kanzaki S

更新日期：2009-03-01 00:00:00

abstract：:Adolescence obesity and depression are increasingly prevalent and are associated with various health complications. The aim of this study was to examine the association between weight status (normal weight, overweight, and obese) and depressive symptoms in adolescents and to explore the probable mediators, including o...

journal_title：European journal of pediatrics

authors： Ting WH,Huang CY,Tu YK,Chien KL

更新日期：2012-08-01 00:00:00

abstract：:This study gives, for the first time, an estimate of the incidence and the cost of rotavirus infection in day care centers in Lyon, France. ...

journal_title：European journal of pediatrics

authors： Floret D,Lina B,Pinchinat S,Billaud G,Aït-Belghiti F,Largeron N,Bellemin B,Trang CN,Fau C,Gaspard C,Mamoux V,Marcelon L

更新日期：2006-12-01 00:00:00

abstract：:Failure to thrive, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia were the most frequent clinical disease presentations in eight children with combined oxidative phosphorylation enzyme complex deficiencies carrying mutations in the polymerase gamma (POLG1) g...

journal_title：European journal of pediatrics

authors： de Vries MC,Rodenburg RJ,Morava E,van Kaauwen EP,ter Laak H,Mullaart RA,Snoeck IN,van Hasselt PM,Harding P,van den Heuvel LP,Smeitink JA

更新日期：2007-03-01 00:00:00

abstract：UNLABELLED:Ischaemic stroke is a rare event in childhood. In approximately one-fourth of cases an underlying cardiac disease can be detected. We investigated the importance of genetic risk factors of venous thromboembolism in childhood or stroke in adulthood as risk factors for ischaemic stroke in children in a multice...

journal_title：European journal of pediatrics

authors： Sträter R,Vielhaber H,Kassenböhmer R,von Kries R,Göbel U,Nowak-Göttl U

更新日期：1999-12-01 00:00:00

abstract：UNLABELLED:Blood transfusion increases blood volume and blood viscosity of the neonate. Since both volume expansion and increase in blood viscosity may be associated with increased pulmonary artery pressure, we studied effects of transfusion (10 ml of red blood cells per kilogramme of body weight) on right ventricular ...

journal_title：European journal of pediatrics

authors： Nelle M,Hoecker C,Linderkamp O

更新日期：1997-07-01 00:00:00

abstract：:In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of ch...

journal_title：European journal of pediatrics

authors： Crinò A,Di Giorgio G,Schiaffini R,Fierabracci A,Spera S,Maggioni A,Gattinara GC

更新日期：2008-12-01 00:00:00

abstract：:Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at le...

journal_title：European journal of pediatrics

authors： Seidel H,Steinlein OK

更新日期：2008-07-01 00:00:00

abstract：BACKGROUND:Calcaneal apophysitis, or Sever's disease, is a traction apophysitis. It is a frequent cause of heel pain in children. Knowledge about the exact incidence of calcaneal apophysitis in the general population, however, is lacking. DESIGN:Cross-sectional study. METHODS:From 34 general practices, records of pat...

journal_title：European journal of pediatrics

authors： Wiegerinck JI,Yntema C,Brouwer HJ,Struijs PA

更新日期：2014-05-01 00:00:00

abstract：:A 7-year-old boy developed acute, severe hypercalcaemia following the partial excision of a cerebellar medulloblastoma. The serum calcium level was extremely high (19.8 mg/100 ml), but a skeletal survey revealed no apparent bone metastatic lesions; such lesions were only detected by X-ray 3 weeks after the onset of hy...

journal_title：European journal of pediatrics

authors： Arisaka O,Obinata K,Yabuta K,Ishimoto K,Sato K

更新日期：1987-07-01 00:00:00

abstract：:A multistage liquid impinger was used to collect the nebulised cloud from three separate nebulisers. The output of sodium cromoglycate collected was determined by a spectrophotometric assay. Estimating drug output purely from weight loss during nebulisation resulted in a considerable overestimate compared with direct ...

journal_title：European journal of pediatrics

authors： O'Callaghan C,Clarke AR,Milner AD

更新日期：1989-02-01 00:00:00

abstract：:Blood volume was estimated using 51chromium labelled red cells and 125iodinated human serum albumin in 5 children with sepsis, in 6 burned children and 7 children with acute lymphoblastic leukaemia. Studies of the equilibration pattern demonstrated that the mixing time of labelled red cells was prolonged to 40 minutes...

journal_title：European journal of pediatrics

authors： Linderkamp O,Holthausen H,Seifert J,Butenandt I,Riegel KP

更新日期：1977-06-01 00:00:00