Abstract：
:Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an incorrect diagnosis. Patients selection is of crucial importance. Metabolic examination of body fluids, particularly with respect to lactate accumulation, is used as a selection criterion for further examinations. Numerous aspects associated with this metabolic examination have been critically evaluated, including the phenomenon of other causes of lactic acidaemia apart from mitochondrial disorders. Correct performance of in vivo function tests may contribute to a reduction of the number of missed diagnoses. Selection of the controls for biochemical investigations must be accurately be performed to obtain reliable reference values. Knowledge of the age-dependency of the biochemical parameters is necessary for a correct interpretation. It goes without saying that the choice of the tissue for biochemical investigations is of utmost importance. Knowledge of the tissue-specific occurrence of some defects in the mitochondrial respiratory chain is necessary. The biochemical examinations can be performed both in biopsy and autopsy material but only under certain conditions. Diagnostic approach requires application of reliable biochemical methods which are described. One of the most intriguing aspects in the diagnosis of mitochondrial disorders is the significance of a defect in relation to the residual enzyme activity found in the patient. Moreover, attention is paid to relevant items such as the occurrence of multiple and secondary defects.(ABSTRACT TRUNCATED AT 250 WORDS)
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Trijbels JM,Scholte HR,Ruitenbeek W,Sengers RC,Janssen AJ,Busch HFdoi
10.1007/BF01956139subject
Has Abstractpub_date
1993-03-01 00:00:00pages
178-84issue
3eissn
0340-6199issn
1432-1076journal_volume
152pub_type
杂志文章,评审abstract：:This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of beta zero-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive inc...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02093721
更新日期：1991-04-01 00:00:00
abstract：:The aim of this retrospective study was to investigate the clinical characteristics and therapeutic outcomes of pulmonary arterial hypertension (PAH) secondary to congenital portosystemic shunts (CPSS). Thirty-three pediatric patients diagnosed in our institution with CPSS between 2012 and 2019 were enrolled in this s...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03817-y
更新日期：2020-10-03 00:00:00
abstract：:Twenty-eight children whose parents reported sleep apnoea were investigated. In 15 infants apnoeic periods during sleep could be confirmed during clinical observation. Ventilatory responses to CO2 were measured in all infants, in 23 during sleep in 5 only when awake. A very wide range of CO2 sensitivities was found. I...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496030
更新日期：1986-04-01 00:00:00
abstract：:Most reviews on weight status have focused on obesity, and little information on underweight children is available. This review aimed to examine the prevalence and trends of underweight status among Asian children and adolescent populations in the last two decades. A systematic review of publications between the years...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-012-1685-9
更新日期：2012-05-01 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
pub_type： 杂志文章
doi：10.1007/s00431-007-0572-2
更新日期：2008-07-01 00:00:00
abstract：:The aim of this study was to determine whether macrosomia related to maternal diabetes alters lipoprotein metabolism and whether these abnormalities still persist or regress after 1 month of life. Serum lipoprotein compositions and concentrations as well as serum lipid fatty acid compositions were investigated in macr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051194
更新日期：1999-09-01 00:00:00
abstract：:Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03572-0
更新日期：2020-08-01 00:00:00
abstract：:Mitochondrial disorders are a clinically and biochemically diverse group of disorders which may involve multiple organ systems. General anaesthesia (GA) poses a potential risk of decompensation in children with mitochondrial disorders, and there is little guidance for anaesthetists and other clinicians regarding the o...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-016-2813-8
更新日期：2017-01-01 00:00:00
abstract：:Urinary tract infection (UTI) is a common cause of sepsis in infants. Premature infants hospitalized at a neonatal intensive care unit often have risk factors for infection. In this group, the risk of UTI is not clearly known, and guidelines for urine analysis are not unanimous. We aimed to identify the risk of UTI in...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3030-9
更新日期：2018-01-01 00:00:00
abstract：:The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-1965-z
更新日期：2013-06-01 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：:Plasma fibronectin (FN) concentrations were measured by an immunonephelometric method in cord blood from 76 healthy newborns (45 full term and 31 preterm), in 181 healthy children, from 1 month-15 years old, divided by age into seven groups and in 81 control adults. FN levels in newborns were 35% of those of adults. T...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442615
更新日期：1988-01-01 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
pub_type： 杂志文章
doi：10.1007/s00431-016-2846-z
更新日期：2017-03-01 00:00:00
abstract：UNLABELLED:Concentrations of galactose (Gal) in plasma and galactose metabolites in red blood cells (RBC) were determined in 18 normal neonates and 249 others with hypergalactosaemia according to the Paigen method. Normal neonatal values for plasma Gal, RBC galactose-1-phosphate (Gal-1-P), RBC uridine diphosphate gluco...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00008352
更新日期：2000-11-01 00:00:00
abstract：:Monocytes play an essential role in cellular host defense as circulating phagocytes, as well as precursors of macrophages. We investigated the principal phagocytic activities in monocytes from cord blood of term infants by analysing adherence, random migration, chemotaxis, bactericidal activity, phagocytosis-associate...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00439252
更新日期：1986-10-01 00:00:00
abstract：UNLABELLED:The aim of this study was to evaluate to what extent serum vitamins A and E cystic fibrosis are affected by the underlying disease, pancreatic sufficiency or insufficiency, meconium ileus, nutritional status, age and treatment (enzyme and vitamin supplementation). Serum vitamin A and E levels were determined...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02002713
更新日期：1996-04-01 00:00:00
abstract：UNLABELLED:A postal survey of 31 European centres was conducted to document current practices regarding screening and management of hepatitis C virus (HCV)-infected pregnant women and their children. Antenatal HCV prevalence was low. Universal antenatal screening programmes were in place in ten centres, selective scree...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051219
更新日期：1999-10-01 00:00:00
abstract：:This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants w...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0154-8
更新日期：2007-01-01 00:00:00
abstract：UNLABELLED:A retrospective analysis was performed of the records of 133 patients with extrahepatic biliary atresia (EHBA) who had undergone a Kasai portoenterostomy. The patients were divided into a non-transplantation group who survived but did not receive liver transplantation after the procedure and a failure group ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-003-1268-x
更新日期：2003-09-01 00:00:00
abstract：:We present clinical and biochemical data on a further patient with hyperargininaemia and the results of neurophysiological tests both before and during dietary treatment with an essential amino acid mixture. With normalisation of plasma arginine concentrations, neurological functions improved and brain stem auditory e...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02171562
更新日期：1990-02-01 00:00:00
abstract：UNLABELLED:A regional surveillance study was carried out in children with recurrent acute otitis media (AOM) to determine the antimicrobial susceptibility of three common AOM pathogens. Susceptibility to relevant antimicrobial agents was determined on 149 Streptococcus pneumoniae, 246 Haemophilus influenzae and 119 Mor...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-004-1475-0
更新日期：2004-09-01 00:00:00
abstract：UNLABELLED:Sleep duration has been identified as risk factor for obesity already in children. Besides investigating the role of fat mass (FM), this study addressed the question whether endocrine mechanisms act as intermediates in the association between sleep duration and overweight/obesity. Within the framework of the...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-011-1670-8
更新日期：2012-07-01 00:00:00
abstract：:Changes of the complement components in the sera of 13 children with treated coeliac disease were studied after gluten challenge. The levels of C 1 and C3-activator (factor B) were significantly decreased at 4 h after the challenge, as were the levels of total complement (CH 50) and the components C 1, C 4 and C 1-ina...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01846034
更新日期：1980-08-01 00:00:00
abstract：:A 4-month-old infant was admitted to the Pediatric Intensive Care Unit with Pneumococcal meningitis. A few hours after admission he developed intractable convulsions that could not be stopped with phenytoin, phenobarbitone and a continuous drip of diazepam. Thiopentone sodium anaesthesia was induced for 24 h terminati...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441663
更新日期：1983-04-01 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：UNLABELLED:The importance of ultrasonography after the first febrile urinary tract infection has been recently challenged. The aim of this study was to evaluate the role of ultrasonography in detection of significant non-reflux abnormalities in the kidneys and the urinary tract, and to determine whether these findings ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-006-0113-4
更新日期：2006-08-01 00:00:00
abstract：:Patients with Turner syndrome (n = 33) were subjected to a sequential oestrogen/gestagen replacement therapy (21 days 2 mg oestradiol valerate plus 0.5 mg norgestrel for 10 days) for 1-4 years. In individuals aged 12-17 years, growth velocities before treatment ranged between 2.9 and 1.9 cm/year and increased to 6.8-3...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00439400
更新日期：1986-09-01 00:00:00
abstract：UNLABELLED:Atypical hemolytic uremic syndrome (HUS) refers to the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury in the absence of Shiga toxin-producing Escherichia coli exposure or Streptococcus pneumoniae infection. Currently, approximately 50 % of the atypical cases have demons...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1763-z
更新日期：2012-10-01 00:00:00
abstract：BACKGROUND:The severity of childhood gastroenteritis is generally believed to be age-related rather than aetiology-related. Rotavirus-induced gastroenteritis is more severe than gastroenteritis caused by other enteric pathogens and is also age-related. We thus addressed the question of whether the increased severity of...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-006-0237-6
更新日期：2007-03-01 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
