Abstract：
:A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days of age, the plasma citrulline concentration was 13 mg/dl (normal, less than 0.8). In addition, the citrulline concentrations in the urine and cerebrospinal fluid (CSF) were markedly elevated. The blood ammonia and the CSF ammonia concentrations (300 micrograms/dl and 59 micrograms/dl, respectively) were also increased, but the infant showed no symptoms. Dietary protein intake was restricted to 2 g/kg/day, resulting in normalization of plasma citrulline and blood ammonia concentrations by 2 months of age. At 12 months of age, the infant was given a regular diet, and his physical and mental development was normal. 14C-citrulline incorporation into trichloroacetic acid (TCA)-precipitable material was normal in the fibroblasts. This report describes the first case in the literature of transient neonatal citrullinemia.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Ohtake A,Takayanagi M,Ogura N,Nakajima Hdoi
10.1007/BF00445674subject
Has Abstractpub_date
1983-10-01 00:00:00pages
60-1issue
1eissn
0340-6199issn
1432-1076journal_volume
141pub_type
杂志文章abstract：:Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear po...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3068-8
更新日期：2018-03-01 00:00:00
abstract：UNLABELLED:Lymphocytic hypophysitis is a rare disorder predominantly affecting females during the antepartum or postpartum period. It is characterized by destruction and lymphocytic infiltration of the pituitary gland, probably by an autoimmune process, leading to a pituitary mass lesion and/or various degrees of hypop...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310050690
更新日期：1997-09-01 00:00:00
abstract：UNLABELLED:An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revea...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957148
更新日期：1996-08-01 00:00:00
abstract：:Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-mont...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-016-2793-8
更新日期：2016-12-01 00:00:00
abstract：:A desquamative, interstitial pneumonitis was diagnosed histologically in a 9-month-old boy who first became ill at the age of 5 weeks. The desquamative interstitial pneumonitis was associated with an acquired cytomegalovirus (CMV) infection. Despite treatment with corticoids, acyclovir and artificial ventilation, the ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02429072
更新日期：1986-12-01 00:00:00
abstract：:A case of painful bilateral hip effusions resolving spontaneously in the diuretic phase of steroid responsive nephrotic syndrome in a 6-year-old girl is reported. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02072499
更新日期：1993-02-01 00:00:00
abstract：:CD3+4-8- double negative cells in peripheral blood lymphocytes were examined in 21 severely handicapped children divided into two groups according to serum IgG level. All children were bedridden and were taking multiple anticonvulsants and there were no apparent clinical differences between these two groups. Serum lev...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01954738
更新日期：1994-12-01 00:00:00
abstract：:The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03348-1
更新日期：2019-05-01 00:00:00
abstract：:This parallel randomized controlled trial was aimed to evaluate whether parameters as physical fitness, reaction times, self-perception and enjoyment levels, as well as parental and children perspectives, were affected by active video games in inactive and technologically preoccupied children. Data were collected in a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00431-019-03457-x
更新日期：2019-10-01 00:00:00
abstract：UNLABELLED:Varicella-related neurological complications usually appear after the rash. Pre-eruptive neurological complications of primary varicella zoster virus infections have been rarely described. We report on a 5.5-year-old boy who developed encephalitis 4 days before the onset of a mild vesicular skin rash and 5 d...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050942
更新日期：1998-10-01 00:00:00
abstract：:Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory cytokine-related disorder associated with overproduction of interleukin (IL)-6, IL-1β, and IL-18. Macrophage activation syndrome (MAS) is a critical and lethal complication of sJIA. Therefore, prompt induction of remission in the active phase of sJIA is ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2093-5
更新日期：2014-12-01 00:00:00
abstract：:Piritramide is indicated for treatment of postoperative pain and analgosedation in the intensive care unit (ICU) setting. In an open prospective study the pharmacokinetics of piritramide were investigated in four groups: newborns (NB, age: 1-28 days) (n=8), infants 1 (IF1, age: 2-4 months) (n=7), infants 2 (IF2, age: ...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/s00431-005-0021-z
更新日期：2006-04-01 00:00:00
abstract：UNLABELLED:Medication prescribing errors (MPE) can result in serious consequences for patients. In order to reduce errors, we need to know more about the frequency, the type and the severity of such errors. We therefore performed a prospective observational study to determine the number and type of medication prescribi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-015-2542-4
更新日期：2015-10-01 00:00:00
abstract：UNLABELLED:Breast milk samples from three groups of Brazilian women were evaluated for their inhibitory effect on enteropathogenic Escherichia coli (EPEC) adhesion to HEp-2 cells: G1, mothers delivering preterm babies of appropriate birth weight (n = 12); G2, mothers delivering term babies of low birth weight (n = 11);...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050646
更新日期：1997-06-01 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：UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-0954-4
更新日期：2002-07-01 00:00:00
abstract：:Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0134-z
更新日期：2006-10-01 00:00:00
abstract：:Within a 2-year period, from March 1974 until May 1976 10 patients with anorexia nervosa were seen at the children's university hospitals of München (2 patients) and Giessen (8 patients). The patients were 10-16 years old, with one exception all girls, and had the typical cachexia, hypothermia, bradycardia, gray, hair...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00452416
更新日期：1976-12-09 00:00:00
abstract：UNLABELLED:Essential fatty acid deficiency is well known in cystic fibrosis patients, but its pathogenesis remains unclear. It might be related to protein-energy malnutrition which is a common feature of cystic fibrosis or to some specific defects in fatty acid metabolism. To avoid the deleterious effects of protein-en...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050750
更新日期：1997-12-01 00:00:00
abstract：UNLABELLED:Chronic lung disease (CLD) is an inflammatory disorder; in patients with other inflammatory disorders exhaled nitric oxide (NO) levels are elevated. The aim of this study was to test the hypothesis that prematurely born infants with CLD would have elevated exhaled NO levels compared to those without CLD and ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-004-1480-3
更新日期：2004-09-01 00:00:00
abstract：UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1659-3
更新日期：2012-04-01 00:00:00
abstract：:The Rubinstein-Taybi syndrome is a condition characterized by mental retardation, typical facial changes and broad thumbs and big toes. The cause is unknown; almost all cases are sporadic. We describe a mother and son with Rubinstein-Taybi syndrome. Literature search documented at least 413 cases with 558 sibs. An aff...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00595907
更新日期：1989-02-01 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
pub_type： 杂志文章
doi：10.1007/BF00647293
更新日期：1987-01-01 00:00:00
abstract：:A case of neonatal suppurative parotitis due to Klebsiella pneumoniae is described. This is the first case reported in the last 20 years. Infection with unusual microorganisms should be taken into account when planning antibiotic treatment, especially in hospital acquired infections of the salivary glands in the newbo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957226
更新日期：1993-12-01 00:00:00
abstract：UNLABELLED:Complementary/alternative medicine (CAM) has become an important topic, not least because of its popularity with patients. This systematic review is aimed at summarising the data known about CAM use in paediatric populations. A thorough search strategy was designed to identify all surveys on the prevalence o...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s004310051000
更新日期：1999-01-01 00:00:00
abstract：UNLABELLED:To assess the efficacy of a serotonin re-uptake inhibitor, sertraline hydrochloride, in preventing recurrent neurocardiogenic syncope, we studied 15 patients (10 female; mean age 12.9 +/- 2 years) with positive head-upright tilt test and resistant to standard pharmacotherapy, atenolol or disopyramide. The pa...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050704
更新日期：1997-10-01 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
pub_type： 杂志文章
doi：10.1007/BF01959356
更新日期：1992-06-01 00:00:00
abstract：:By November 1994, 39 pregnancies had been completed in phenylketonuric mothers. Dietary control was post-conception in 6 and 2 of these offspring died of congenital heart disease and 1 other needed surgery for coarctation. There were no heart defects in the 34 offspring of the 33 pregnancies following preconception di...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00014242
更新日期：1996-07-01 00:00:00
abstract：:We updated our 2010 systematic review on the efficacy of probiotics in the treatment of constipation in children. The MEDLINE, EMBASE, and Cochrane Library databases; clinical trial registries; and reference lists of included studies were searched to February 2017 for randomized controlled trials (RCTs) performed in c...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-017-2972-2
更新日期：2017-09-01 00:00:00
abstract：:A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-fil...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496431
更新日期：1988-05-01 00:00:00
