Abstract:
:Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and verbal dyspraxia, suggest organ-specific sensitivity to lack of GALT activity. Analysis of steady-state GALT mRNA and specific activity levels in adult rat organs reveals a marked difference between organs that correlates with the degree of organ dysfunction in humans with galactosemia. The organ variation in GALT mRNA and activity thus appears to be due to genetic regulation. Discernment of the pathophysiologic basis for the organ-specific complications requires an understanding of the basis for the differences in organ regulation. The present state of knowledge of the regulation of the Leloir enzymes in general, GALT in particular, from prokaryotes to mammals is discussed.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Heidenreich RAdoi
10.1007/BF02143799subject
Has Abstractpub_date
1995-01-01 00:00:00pages
S28-32issue
7 Suppl 2eissn
0340-6199issn
1432-1076journal_volume
154pub_type
杂志文章,评审abstract:UNLABELLED:Reports on schistosomiasis in children growing up in Europe are rare despite increased travel activity. We report on eight male and three female German children aged 50 months to 15 years with schistosomiasis. Six children were asymptomatic, whereas two presented with typical signs of Katayama fever. Persist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051326
更新日期:2000-07-01 00:00:00
abstract::All 270 patients presenting with Henoch-Schönlein Purpura over a 13-year period from a total childhood population of 155,000 were studied. This is an incidence of 13.5/100,000 children per year. Fifty-five (20%) were found to have initial evidence of renal involvement, and were re-examined at a mean of 8.3 years later...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442205
更新日期:1988-02-01 00:00:00
abstract::Eight patients with the syndrome of benign paroxysmal vertigo of childhood are presented. This symptom complex is characterized by attacks of vertigo in young children combined with nystagmus, ataxia and transiently decreased vestibular function, but without impaired consciousness. Diagnostic and follow-up studies rev...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01846035
更新日期:1980-08-01 00:00:00
abstract::Iliac vessel disruption following blunt trauma is an unusual presentation, particularly in the absence of an orthopaedic injury. We present the unique case of a 14-year-old boy who sustained a blunt bicycle handlebar impalement that resulted in complete transection of the external iliac artery and laceration of the ex...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1767-8
更新日期:2012-12-01 00:00:00
abstract:UNLABELLED:The aim of this study was to obtain comprehensive data on clinical presentation, microbiology, computed tomography, surgical findings and histology in acute, sub-acute and chronic mastoiditis. We performed a prospective, observational study in children under 16 years of age presenting to our institution duri...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0549-1
更新日期:2008-05-01 00:00:00
abstract::Paediatric ambulatory healthcare systems in Europe are, because of historical reasons, diverse and show strikingly different outcomes. All across Europe, the benchmarking of structures, processes and outcomes could reveal opportunities for improving Paediatric Primary Care (PPC). The aim of this study was to develop a...
journal_title:European journal of pediatrics
pub_type: 共识发展会议,杂志文章
doi:10.1007/s00431-018-3140-z
更新日期:2018-06-01 00:00:00
abstract::Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441894
更新日期:1979-01-18 00:00:00
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
更新日期:2021-01-06 00:00:00
abstract::Pentoxifylline (PTX) is a candidate adjuvant medication for the treatment of sepsis and necrotizing enterocolitis in preterm infants. There is only limited data on safety and compatibility with other commonly used intravenous medications. This retrospective single-center study of 198 preterm infants (September 2012-Se...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03612-9
更新日期:2020-08-01 00:00:00
abstract::We examined the long-term outcome in 111 children who had convulsions during shigellosis and were followed for 3-18 years after the incident. No deaths or persistent motor deficits occurred as sequellae. Poor coordination of fine hand movements were noted in 3.3% of the 92 children who had no pre-existing neurological...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02106298
更新日期:1990-01-01 00:00:00
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
更新日期:1999-12-01 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
pub_type: 杂志文章
doi:10.1007/BF00444958
更新日期:1987-07-01 00:00:00
abstract::The fatty acid status of an unselected group of 84 Congolese children was determined by estimating the fatty acid composition of the plasma phospholipid (PL) and cholesterolester (CE) fractions using capillary gas chromatography. In comparison with North American and European children a wide range of values and low me...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00445928
更新日期:1988-11-01 00:00:00
abstract::Since the first description by Catel and Manzke of hyperphalangy and clinodactyly of the index finger associated with Robin malformation sequence, seven further cases have been published. In two families more than one case occurred. Another family is presented with possibly two affected boys showing variable features ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442455
更新日期:1984-08-01 00:00:00
abstract::Direct measurements of parathyroid activity are available in only small numbers of children with vitamin D deficiency rickets (VDR). Therefore serum immunoreactive parathyroid hormone (iPTH) and the urinary cyclic adenosine-3',5'-monophosphate excretion (UcAMP) were measured together with other important indices of ca...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443214
更新日期:1984-01-01 00:00:00
abstract:UNLABELLED:Five neonates who suffered from an unexpected long period of respiratory failure, muscular hypotonia, and drowsiness were observed in a retrospective study. Prior to this general depression, unusually high doses of diazepam were administered to all patients via intravenous bolus injection. Serum levels of di...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100745
更新日期:2001-06-01 00:00:00
abstract::Brain hypoxia after cardiac arrest leads to damage of the neuronal cell membrane. Citicoline is necessary for the synthesis of cell membrane. We planned to assess the neuroprotective effect of citicoline in children after cardiac arrest. This randomized controlled trial was carried out at pediatric intensive care unit...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03871-6
更新日期:2020-11-10 00:00:00
abstract::So far, a recognizable pattern of clinical symptoms for child sexual abuse (CSA), especially in young male children, is lacking. To improve early recognition of CSA, we reviewed physical complaints, physical examination, and tests on sexually transmitted infections (STIs) in confirmed victims (predominantly preschool ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2996-7
更新日期:2017-10-01 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
pub_type: 杂志文章,多中心研究
doi:10.1007/pl00014336
更新日期:1999-12-01 00:00:00
abstract::Prolonged emergency department (ED) length of stay (LOS) is used as a proxy for ED overcrowding and is associated with adverse outcomes of patients requiring therapy and reduced patient satisfaction. Our aim was to identify and quantify variables which affect ED-LOS. Patients admitted to the pediatric ED of a large re...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2879-y
更新日期:2017-05-01 00:00:00
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
更新日期:1997-02-01 00:00:00
abstract:UNLABELLED:A retrospective analysis of 218 bunk-bed accidents and a random sample survey with 991 family interviews were performed in order to establish guidelines for bunk-bed accident prevention. Falls from the top bed during sleep (35.1%) or while playing (34.4%) and falling off the ladder (23.2%) are the leading ca...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051303
更新日期:2000-06-01 00:00:00
abstract:UNLABELLED:Although Shiga toxin-producing Escherichia coli (STEC) has been isolated in Brazil, severe manifestations of the infection, such as haemorrhagic colitis and haemolytic-uraemic syndrome, are extremely rare in our population. Enteropathogenic Escherichia coli (EPEC) is the main aetiological agent of acute infa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1561-3
更新日期:2005-01-01 00:00:00
abstract::In 23 subjects of different ages with Down's syndrome a number of parameters of non-specific defense of humoral and cellular immunity were investigated. While in all age groups complement factors C3, C4 and C5 as well as phagocytosis and NBT indices were in the normal range, a dysgammaglobulinaemia increasing with age...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00477543
更新日期:1977-01-26 00:00:00
abstract::A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442508
更新日期:1982-07-01 00:00:00
abstract::Indomethacin treatment for 1 week monitored by drug level determinations was evaluated in 32 preterm infants with symptomatic patent ductus arteriosus (sPDA). Inter- and intra-individual indomethacin dispositions varied considerably with the need for marked dosage adjustments to maintain the drug level within the prop...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02343219
更新日期:1987-03-01 00:00:00
abstract:UNLABELLED:The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characterist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050762
更新日期:1998-01-01 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:UNLABELLED:A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recov...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310051033
更新日期:1999-02-01 00:00:00
abstract:UNLABELLED:Both news media and entertainment fiction may lead to short-term and enduring fright reactions. Even TV programs, movies and news made for children may trigger fear. Preoperational children (3 to 7 years of age) are most afraid of fantasy characters, transformations and interpersonal violence. Operational ch...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1632-1
更新日期:2012-04-01 00:00:00