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, remains expressed in the intestine.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Braegger CP,Belli DC,Mentha G,Steinmann Bdoi
10.1007/s004310050882subject
Has Abstractpub_date
1998-07-01 00:00:00pages
576-8issue
7eissn
0340-6199issn
1432-1076journal_volume
157pub_type
杂志文章abstract:UNLABELLED:Aldosterone synthase (P450c11AS) deficiency is a rare autosomal recessive disorder, presenting with severe salt-losing in early infancy. It is caused by inactivating mutations of the CYP11B2 gene. Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldoste...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1792-7
更新日期:2012-10-01 00:00:00
abstract::Separate glomerular filtration rates were evaluated in 21 children with uni- or bilateral ureteropelvic junction stenosis, using the Tc-99m DTPA complex and the scintillation camera. The grade of alteration seen on urograms has influenced the surgeon in his decision to use a conservative or a surgical treatment, where...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00446067
更新日期:1986-08-01 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
pub_type: 杂志文章
doi:10.1007/BF01959212
更新日期:1994-02-01 00:00:00
abstract::To reveal the influence of therapeutically induced changes of arterial blood pressure on cerebral circulation, pulsed Doppler measurements of blood velocity in the right internal carotid artery were performed in 23 neonates. A positive correlation between mean arterial blood pressure and time-averaged maximum blood ve...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441596
更新日期:1987-09-01 00:00:00
abstract:UNLABELLED:Improved surgical care during the last decades, together with advances in medical management, led to a remarkable increase in survival of patients with congenital heart disease (CHD). However, aging of the CHD population brings new challenges, and loss of follow-up of adolescents and adults with CHD is a maj...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-015-2557-x
更新日期:2015-07-01 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
pub_type: 杂志文章
doi:10.1007/s00431-006-0234-9
更新日期:2007-03-01 00:00:00
abstract::The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2917-9
更新日期:2017-07-01 00:00:00
abstract::Co-trimoxazole is an effective antibacterial agent for the prophylaxis of urinary tract infection. Because experimental evidence raises the possibility that high-dose cotrimoxazole might interfere with normal somatic growth, the longitudinal growth and growth velocities were analysed in 114 girls receiving long-term, ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442669
更新日期:1983-09-01 00:00:00
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
doi:10.1007/BF00496851
更新日期:1979-01-01 00:00:00
abstract::Specialist paediatric services manage a variety of presentations of functional somatic symptoms. We aimed to describe the presentation and management of children and adolescents with somatic symptom and related disorders (SSRDs) requiring admission to a tertiary children's hospital with the objective of informing the ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03867-2
更新日期:2020-11-13 00:00:00
abstract::Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1134-6
更新日期:2010-04-01 00:00:00
abstract:UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00008442
更新日期:2001-06-01 00:00:00
abstract::We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955902
更新日期:1993-05-01 00:00:00
abstract::Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operati...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02276713
更新日期:1995-09-01 00:00:00
abstract::An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441792
更新日期:1985-11-01 00:00:00
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
doi:10.1007/BF00441477
更新日期:1980-09-01 00:00:00
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
更新日期:1991-04-01 00:00:00
abstract:UNLABELLED:Portal vein thrombosis is a rare but potentially lethal complication in children requiring splenectomy. We report on a 15-year-old boy with a dehydrated hereditary stomatocytosis, who underwent splenectomy and presented a postoperative partial portal vein thrombosis. With prompt heparin therapy, neither prop...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051165
更新日期:1999-08-01 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
pub_type: 杂志文章,评审
doi:10.1007/pl00014253
更新日期:1996-07-01 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
pub_type: 杂志文章
doi:10.1007/BF00493539
更新日期:1978-04-20 00:00:00
abstract::Our prior studies of the molecular epidemiology of group A streptococcus (GAS) pharyngitis indicated that the most common emm types associated with pediatric pharyngitis in North America were 12, 1, 28, and 4. We previously reported that the proportions of pediatric pharyngitis due to emm types 12 and 4 decreased with...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0819-6
更新日期:2009-06-01 00:00:00
abstract::Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Mente...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445896
更新日期:1980-10-01 00:00:00
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
更新日期:2010-08-01 00:00:00
abstract::We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959396
更新日期:1990-04-01 00:00:00
abstract:UNLABELLED:The effect of different feeding regimens, notably the use of hydrolysed cow's milk formulas, on the development of allergic reactions and the development of cow's milk protein-IgG antibodies is still disputed. We prospectively compared the development of allergic manifestations and cow's milk protein-IgG ant...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF02002723
更新日期:1996-04-01 00:00:00
abstract::A 15-year-old girl was admitted with a high fever and progressive malaise, vomiting, anorexia and abdominal complaints. She previously had a sore throat and unilateral painful swollen lymph nodes in the neck. Laboratory investigation indicated a bacterial infection. Blood cultures were taken. There was infiltrate in t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0628-3
更新日期:2008-06-01 00:00:00
abstract:UNLABELLED:Monitoring fat free mass (FFM), an indicator of nutritional status and a predictor of exercise performance in children, is particularly important in patients with cystic fibrosis (CF). We assessed validity of the skinfold method for measuring FFM, and its changes with exercise training, in children with CF. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051209
更新日期:1999-10-01 00:00:00
abstract::To nine cystic fibrosis patients with chronic bronchopulmonary infection of severely damaged lungs invaded by Pseudomonas aeruginosa, eleven courses of prolonged tobramycin treatment (5 mg/kg/day) for four to 16 weeks were administered. Pulmonary symptoms improved and a better quality of life was achieved in all but o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441362
更新日期:1979-04-03 00:00:00
abstract::There is evidence pointing to a decrease of the glomerular filtration rate (GFR) in a subgroup of nephrotic children, likely secondary to hypovolemia. The aim of this study is to validate the use of urinary potassium to the sum of potassium plus sodium ratio (UK/UK+UNa) as an indicator of hypovolemia in nephrotic synd...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-3029-2
更新日期:2018-01-01 00:00:00
abstract::A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1715-7
更新日期:2012-08-01 00:00:00