Abstract：
:Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactate handling. Dichloroacetate (DCA) was given and resulted in the prompt normalisation of his metabolic profile with no recurrence after discontinuation of the drug. A second episode of hyperinsulinaemic hypoglycaemia followed and this was controlled satisfactorily by short term diazoxide treatment. Diazoxide treatment could be stopped at the age of 1 month. Although at the age of 1.5 years the infant is retarded developmentally, there has been no recurrence of lactic acidosis nor hyperinsulinaemic hypoglycaemia. The association of lactic acidosis and hyperinsulinism, and the use of DCA in this circumstance have not been reported previously.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Aynsley-Green A,Weindling AM,Soltész G,Jenkins PAdoi
10.1007/BF00496802subject
Has Abstractpub_date
1983-12-01 00:00:00pages
114-7issue
2eissn
0340-6199issn
1432-1076journal_volume
141pub_type
杂志文章abstract：UNLABELLED:To assess the role of dexamethasone treatment as a cause of systemic hypertension and associated complications, blood pressure was registered prospectively before, during and after a 4-week dexamethasone course in 22 neonates with chronic lung disease. In all patients systolic blood pressure rose significant...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/BF01957907
更新日期：1996-07-01 00:00:00
abstract：:This was an uncontrolled, open-label follow up study of a previous 12-month, randomized, double-blind, placebo-controlled trial performed to assess the long-term efficacy and safety of Recombinant Human Interferon Gamma (rIFN-gamma) in patients with chronic granulomatous disease (CGD). In two centres, 28 patients (24 ...
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/BF01957365
更新日期：1995-04-01 00:00:00
abstract：UNLABELLED:Acid reflux and/or oesophagitis may be responsible for inconsolable crying in infants. We evaluated prospectively the presence of acid reflux disease, oesophagitis and the accuracy of pH monitoring in the prediction of oesophagitis in a population of irritable infants. A 24-h oesophageal pH monitoring with a...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-004-1403-3
更新日期：2004-06-01 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：:Chylothorax is defined as an effusion of lymph in the pleural cavity. In the neonate both congenital and traumatic (iatrogenic) forms exist. Birth asphyxia and respiratory insufficiency are major symptoms of congenital chylothorax, requiring resuscitation and artificial ventilation. Antenatal diagnosis by ultrasound a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02072505
更新日期：1993-01-01 00:00:00
abstract：UNLABELLED:Over the past decade, concerns about bullying and its effects on school health have grown. However, few studies in Turkey have examined the prevalence of bullying in childhood and adolescence and its association with health problems. The current study aimed to examine the prevalence and manifestation of bull...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-012-1782-9
更新日期：2012-10-01 00:00:00
abstract：:Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In h...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02072056
更新日期：1990-12-01 00:00:00
abstract：:The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the surgery and post-operative follow-up on behalf of the intraoperative findings. A retrospective revi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3258-z
更新日期：2018-12-01 00:00:00
abstract：:The correlation between the appearance of functionally-atypical factor VII and perinatal complications was investigated in 66 newborn infants. The presence of an abnormal clotting factor was assumed if the ratio between clotting activity and antigen-related factor VII material exceeded the normal range for adult plasm...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00493570
更新日期：1977-08-12 00:00:00
abstract：:The purpose of this study is to investigate the association of programmed death-1 gene (PD-1) polymorphisms with genetic predispositions to Kawasaki disease (KD). A total of 73 patients with KD and 100 healthy controls were enrolled from 2007 to 2008. Two single nucleotide polymorphisms of the PD-1 gene, rs41386349 an...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-009-1002-4
更新日期：2010-02-01 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：UNLABELLED:We describe a case of iatrogenic pseudo-Bartter syndrome caused by administration of prostaglandin E1 (PGE1 alprostadil). Although the use of i.v. PGE1 is a well-established pharmacological therapy in neonates with a ductus-dependent congenital cardiopathy to ensure ductus-dependent flow, we could only find ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-003-1201-3
更新日期：2003-09-01 00:00:00
abstract：:The incidence of intussusception in infants varies around the world. The epidemiology of intussusception in France has never been prospectively studied. We performed a prospective observational study with systematic inclusion of all infants aged <1 year with suspected intussusception admitted to the emergency departme...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-016-2838-z
更新日期：2017-03-01 00:00:00
abstract：UNLABELLED:Gain-of-function mutations of the extracellular calcium (Ca(2+)e)-sensing receptor (CaR) have been identified in patients with familial and sporadic hypercalciuric hypocalcaemia. We describe a patient with sporadic severe hypercalciuric hypocalcaemia with undetectable or very low levels of serum parathyroid ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-003-1331-7
更新日期：2004-02-01 00:00:00
abstract：:The conclusions of this mini-workshop are not substantially different from those previously published based on the USA experience [9]. This does not necessarily mean that there are no important differences between Europe and the USA, rather it reflects the paucity of data, especially in Europe. Moreover, European data...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014362
更新日期：2000-09-01 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：UNLABELLED:The objective of this study was to evaluate health-related quality of life (HRQoL) and behavioral functioning in pediatric patients with hereditary spherocytosis (HS). A cross-sectional study was conducted in 132 Dutch children and adolescents with HS and aged 8-18 years of whom 48 underwent splenectomy prio...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2299-1
更新日期：2014-09-01 00:00:00
abstract：:Cough and wheezing are the predominant symptoms of acute bronchitis. Hitherto, the evaluation of respiratory symptoms was limited to subjective methods such as questionnaires. The main objective of this study was to objectively determine the time course of cough and wheezing in children with acute bronchitis. The impa...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1007/s00431-019-03426-4
更新日期：2019-09-01 00:00:00
abstract：UNLABELLED:The true burden of influenza in children is difficult to assess and is probably underestimated as clinical signs are usually nonspecific, and formal viral identification is rarely searched. In this study, we compare the clinical features of infections related to the new H1N1/09 influenza virus with infection...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1513-7
更新日期：2012-01-01 00:00:00
abstract：:The heuristic concept of "inborn errors of metabolism" was introduced more then 70 years ago and by analogy has prompted the more recent introduction of the term "inborn errors of immunity". It is now well recognized that many inborn errors of immunity can be considered inborn errors of metabolism. Typically, many for...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00491916
更新日期：1985-05-01 00:00:00
abstract：:This study is a retrospective analysis of seven patients with hypoechogenic lesions in the liver and/or spleen due to Bartonella henselae, who were followed from 1998 through to 2005 by the Department of Pediatrics, Turin University. In addition to showing constitutional symptoms, four children had skin lesions sugges...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0500-5
更新日期：2008-04-01 00:00:00
abstract：:A 4-month-old male infant was seen because of an asymptomatic undescended left testis and a right sided abdominal mass. CT revealed a calcified retroperitoneal tumour. Histological examination of surgical specimens showed a mature primary teratoma of the contralateral undescended testis. While this is very rare, infan...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957524
更新日期：1993-11-01 00:00:00
abstract：:Twin-to-twin transfusion (TTT) is a complication of monochorionic twins that may result in high mortality and morbidity. To better understand pathophysiology in TTT and the consequences for affected fetuses and neonates, we describe the clinical features of 19 consecutive pregnancies complicated by TTT over 5 years. T...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1107-5
更新日期：2003-02-01 00:00:00
abstract：:Tonsillectomy is one of the commonest ENT paediatric procedures. Recovery is best achieved at home, and cost-effectiveness of the day case pathway is significant in tonsillectomy. This project scrutinised the local practice regarding the effectiveness of day case pathway in paediatric tonsillectomy in a large regional...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3220-0
更新日期：2018-11-01 00:00:00
abstract：:Despite the sudden and often alarming clinical manifestations of ITP, few patients in the pediatric age group develop serious complications or long-term sequellae. Conservative therapy, without use of pharmacologic or surgical intervention, is the most convenient, safe, and cost-effective approach in the vast majority...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02343213
更新日期：1987-03-01 00:00:00
abstract：:An 8-month-old boy and a 7-month-old girl presented with an acute, Coombs-positive auto-immune haemolytic anaemia and severe hepatitis. The clinical manifestations were pallor, jaundice and hepatomegaly. The liver histology revealed diffuse giant cell transformation and extensive necrosis with central-portal bridging....
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01955929
更新日期：1991-03-01 00:00:00
abstract：:We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00444644
更新日期：1976-11-03 00:00:00
abstract：:We report on a 10-year-old girl who was presented to the Emergency Department with a 3-day history of "vaginal bleeding", the cause of which was determined to be urethral prolapse. Urethral prolapse occurs when the urethra mucosa evaginates beyond the urethral meatus. This uncommon condition in prepubescent girls shou...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0523-y
更新日期：2008-05-01 00:00:00
abstract：UNLABELLED:Congenital hypothyroidism (CH) due to thyroglobulin (TG) deficit is an autosomal recessive disease (OMIM #274700) characterized by hypothyroidism, goiter, low serum TG, and a negative perchlorate discharge test. The aim of this study was to perform the genetic analysis of the TG gene in two sisters born from...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-1976-9
更新日期：2013-07-01 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
