Abstract:
:Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis with increased protein levels in the cerebrospinal fluid. Characteristic laboratory findings in FHL are hypertriglyceridemia and hypofibrinogenemia, which are reversible with treatment. The disease has been rapidly fatal in most patients, but recently longterm remissions have been achieved with cytotoxic agents. Pathohistologic examination shows a widespread infiltrate of lymphocytes and mature macrophages with prominent hemophagocytosis affecting especially liver, spleen, lymph nodes and the central nervous system. Atrophy of the lymphatic tissue is a common finding. From the histologic picture FHL has to be grouped among the histiocytoses of reactive origin since the cells involved show no signs of malignancy. The etiology and pathogenesis of FHL are not known at present. Immunologic studies present evidence for a disturbed function of T lymphocytes, but a secondary immune defect seems to be more likely than primary immune deficiency. Among the broad clinical spectrum of histiocytic disorders especially histiocytic reactions due to infection, histiocytosis X and malignant histiocytosis have to be considered in the differential diagnosis of FHL.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Janka GEdoi
10.1007/BF00443367subject
Has Abstractpub_date
1983-06-01 00:00:00pages
221-30issue
3eissn
0340-6199issn
1432-1076journal_volume
140pub_type
杂志文章,评审abstract::Maternal morbidity is associated with cesarean deliveries. However, new evidence suggests that short- and long-term neonatal morbidity is also associated. This includes respiratory morbidity with conflicting results. To determine whether mode of delivery has an impact on the long-term risk for respiratory morbidity in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3225-8
更新日期:2018-11-01 00:00:00
abstract::Clinical pharmacists provide beneficial services to adult patients, though their benefits for paediatric hospital patients are less defined. Five databases were searched using the MeSH terms 'clinical pharmacist', 'paediatric/paediatric', 'hospital', and 'intervention' for studies with paediatric patients conducted in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3187-x
更新日期:2018-08-01 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::Blood volume was estimated using 51chromium labelled red cells and 125iodinated human serum albumin in 5 children with sepsis, in 6 burned children and 7 children with acute lymphoblastic leukaemia. Studies of the equilibration pattern demonstrated that the mixing time of labelled red cells was prolonged to 40 minutes...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00489987
更新日期:1977-06-01 00:00:00
abstract::The burden of community-acquired pneumonia (CAP) in high-income countries is still significant. The introduction of pneumococcal conjugate vaccines (PCV) has reduced the overall need for hospitalization for CAP. However, it is not clear whether children with underlying disease also have benefitted from the PCV immuniz...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-016-2843-2
更新日期:2017-03-01 00:00:00
abstract::A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442347
更新日期:1979-02-08 00:00:00
abstract::The varying clinical manifestations of Lyme borreliosis, transmitted by Ixodes ricinus and caused by Borrelia burgdorferi, frequently pose diagnostic problems. Diagnostic strategies vary between early and late disease manifestations and usually include serological methods. Erythema migrans is pathognomonic and does no...
journal_title:European journal of pediatrics
pub_type: 杂志文章,实务指引
doi:10.1007/s00431-012-1779-4
更新日期:2012-11-01 00:00:00
abstract::We describe an outbreak of echovirus type 18 infection involving 20 neonatal intensive care unit (NICU) patients and the results of virological investigations are presented. RT-PCR demonstrated a widespread transmission of the virus in NICU patients during the outbreak. Separation care and additional infection control...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0516-x
更新日期:2008-05-01 00:00:00
abstract::Severe complications due to Shigatoxin-associated hemolytic uremic syndrome (STEC-HUS) currently present a serious challenge since no specific treatment for this condition is available. Eculizumab, a terminal complement inhibitor, has been used especially in STEC-HUS patients with severe neurological involvement, but ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-017-3077-7
更新日期:2018-03-01 00:00:00
abstract::The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-2172-7
更新日期:2014-05-01 00:00:00
abstract::Using a randomized double blind study design, the bronchodilating effect of 200 micrograms inhaled oxitropium bromide (OB) was compared with 200 micrograms inhaled fenoterol (F) after an interval of 20 min, in 20 asthmatic children aged 12.7 years (range: 4.9-15.1 years), suffering from mild bronchoconstriction (mean ...
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/BF02190670
更新日期:1994-08-01 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:In patients with Henoch-Schönlein purpura (HSP) presenting with severe gastro-intestinal (GI) symptoms, IgA deposition was studied in endoscopically obtained mucosal biopsies. A total number of 11 patients (male, 7; female, 4) were enrolled in this study; 7 patients underwent upper GI endoscopy and biopsy 1 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02075757
更新日期:1996-02-01 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::Neonatal stroke is a diverse clinical entity. Terminology and aetiology described in the literature are very varied. While numerous risk factors are cited, only few case-control studies have investigated them in a systematic fashion. This equipoise extends to the investigational and management profile of perinatal str...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1509-3
更新日期:2012-02-01 00:00:00
abstract::Strategies for the treatment of cystathionine beta-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing the load on the affected pathway with a low methionine diet and supplementing the diet with cysteine; and (3...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/pl00014308
更新日期:1998-04-01 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::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 aim of this study was to analyze changes in adipose tissue (AT) distribution, intrahepatic lipids (IHL), and insulin resistance (IR) among a group of obese adolescents undergoing a 7-months low-level lifestyle intervention. Thirty-nine obese Caucasian adolescents (mean age 13.9 years, body mass index sta...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-015-2577-6
更新日期:2015-12-01 00:00:00
abstract:UNLABELLED:Sepsis is the major cause of morbidity and mortality in children, especially in immunocompromised patients, and a rapid identification of causative pathogen is strongly related with a better outcome. This prospective study analyzes the role of a multiplex real-time polymerase chain reaction in sepsis' etiolo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-016-2745-3
更新日期:2016-08-01 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::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::Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the e...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0847-2
更新日期:2009-07-01 00:00:00
abstract:UNLABELLED:About 50% of intersex cases are due to male pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-005-1626-y
更新日期:2005-05-01 00:00:00
abstract::Screening for coeliac disease (CD) with serum antigliadin antibodies (AGA) was performed in 1032 diabetic children and adolescents. In 8 children CD had been diagnosed before study entry. Of the remaining 1024 children, 33 had an elevated AGA titre in the first serum sample. On follow-up an elevated AGA titre was conf...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/BF00445915
更新日期:1988-11-01 00:00:00
abstract::A comprehensive program for proficiency testing of biochemical genetics laboratories is described. Inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans and oligosaccharides are covered, as well as the assay of galactose-1-phosphate. Participants are not only required to report the analytical r...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02138772
更新日期:1994-01-01 00:00:00
abstract:UNLABELLED:Methanol poisoning is not frequently observed in children; however, without treatment, serious intoxication can be complicated by visual impairment, coma, metabolic acidosis, respiratory and circulatory insufficiency and death. Treatment in a paediatric intensive care is therefore compulsory. Methanol is met...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-004-1588-5
更新日期:2005-03-01 00:00:00
abstract:UNLABELLED:Two patients are described with acute collapse caused by pericardial effusion following central venous catheterisation. Echocardiography during resuscitation allowed prompt identification and management. CONCLUSION:Pericardial effusion should be considered in any baby experiencing acute deterioration with a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100828
更新日期:2001-12-01 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: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