Abstract：
UNLABELLED:Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessive fashion. The disease is caused by mutations in the gene on the short arm of chromosome 16, coding for the protein "pyrin". Pyrin is mainly expressed in neutrophils and monocytes and is among the proteins involved in the interleukin-1 inflammatory pathway. The recurrent attacks of fever are accompanied by severe abdominal pain, arthritis and/or chest pain along with a marked increase in acute phase reactants. Among these, serum amyloid A protein is especially important since it is the precursor of the amyloid A fibrils deposited in secondary renal amyloidosis. Renal amyloidosis has a grave prognosis. Differential diagnosis from other periodic fever syndromes is especially important in western European countries. Among these hyper IgD syndrome is common in Netherlands and the tumour necrosis factor receptor-associated periodic syndrome is especially common among Scottish and Irish families. Mutation analysis of the gene may be helpful in diagnosing FMF; however, if this is not possible, a trial of colchicine is a helpful diagnostic tool. The indications for life-long colchicine treatment should be discussed with the family. CONCLUSION:Familial mediterranean fever and other auto-inflammatory syndromes should be suspected in children with recurrent febrile attacks. Early diagnosis will save the child from unnecessary work-up and kidney involvement.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Ozen Sdoi
10.1007/s00431-003-1223-xkeywords:
subject
Has Abstractpub_date
2003-07-01 00:00:00pages
449-454issue
7-8eissn
0340-6199issn
1432-1076pii
10.1007/s00431-003-1223-xjournal_volume
162pub_type
杂志文章,评审abstract：:Marked hypoxia secondary to intrapulmonary right-to-left shunting is a characteristic of respiratory failure in human neonates and can sometimes be complicated by additional extrapulmonary right-to-left shunting. To investigate the effect of inhaled nitric oxide (iNO) on intrapulmonary shunting, two typical pulmonary ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050841
更新日期：1998-05-01 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：:Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (αFP) dosage is the cornerstone...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1455-0
更新日期：2011-11-01 00:00:00
abstract：:We review the validity of balloon occlusion aortography (BOA) on the basis of our personal experience with 18 patients with congenital heart disease (mean weight 4.55 g, including 8 neonates). Four of the 18 patients underwent aortic arch angiography using balloon occlusion of the descending aorta. Pulmonary angiograp...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01955515
更新日期：1991-02-01 00:00:00
abstract：:Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal as long as no marked liver disease was present. Under these condition...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02073885
更新日期：1992-01-01 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：:Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diag...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-009-1029-6
更新日期：2010-03-01 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：: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：UNLABELLED:Severe head injuries in children (under 15 years of age) have many features that differentiate them from head injuries in adults. In such cases, non-surgical treatment cannot always prevent fatal herniation. We report on seven cases of children with severe head injury, presenting with decorticate posturing a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-001-0864-x
更新日期：2002-02-01 00:00:00
abstract：:Lung ultrasound (LUS) has been described as a useful tool in early prognosis of several respiratory diseases of the newborn, especially preterm infant newborns (PTNB) with respiratory distress syndrome (RDS), but still, it is not a standard of care in many neonatal units. We have conducted a descriptive, prospective s...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03470-0
更新日期：2020-01-01 00:00:00
abstract：UNLABELLED:Portal vein thrombosis is a rare but potentially lethal complication in children requiring splenectomy. We report on a 15-year-old boy with a dehydrated hereditary stomatocytosis, who underwent splenectomy and presented a postoperative partial portal vein thrombosis. With prompt heparin therapy, neither prop...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310051165
更新日期：1999-08-01 00:00:00
abstract：UNLABELLED:The effect of different feeding regimens, notably the use of hydrolysed cow's milk formulas, on the development of allergic reactions and the development of cow's milk protein-IgG antibodies is still disputed. We prospectively compared the development of allergic manifestations and cow's milk protein-IgG ant...
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/BF02002723
更新日期：1996-04-01 00:00:00
abstract：UNLABELLED:We describe the case of a boy with steroid sensitive nephrotic syndrome and left pulmonary artery thrombo-embolism. clinical presentation initially suggested sepsis and respiratory signs were minor. Treatment with tissue plasminogen activator infused into the pulmonary artery was successful. CONCLUSION:Pulm...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050684
更新日期：1997-08-01 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：:Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in ado...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03651-2
更新日期：2020-10-01 00:00:00
abstract：UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-005-1740-x
更新日期：2005-12-01 00:00:00
abstract：:Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been critically unwell. In this systematic review, we aimed to identify and describe which underlying comorbidities may be associated with severe SARS-CoV-2 disease and de...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-020-03801-6
更新日期：2020-09-10 00:00:00
abstract：:Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arg...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01954274
更新日期：1995-03-01 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：:We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01958427
更新日期：1991-05-01 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：:The aim of this retrospective study was to describe the epidemiology and spectrum of infections of admitted pediatric refugees and asylum seekers in a tertiary referral hospital in a high-income country in Europe. We identified recent refugees and asylum seekers < 18 years of age admitted to the University Children's ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3014-9
更新日期：2017-12-01 00:00:00
abstract：:High food quality, together with adequate macro- and micronutrient intake in pregnancy, is crucial for the health status of the mother and child. Recent findings suggest that it could also be beneficial or harmful in the context of the well-being of the whole future population. According to the developmental origins o...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-017-3026-5
更新日期：2017-12-01 00:00:00
abstract：:A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-c...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442747
更新日期：1984-11-01 00:00:00
abstract：:Plasma prolactin (PRL) response to arginine was examined in 16 prepubertal and 18 pubertal children with constitutional short stature, 5 patients with hyperthyroidism and 4 patients with primary hypothyroidism. The mean basal concentration of plasma PRL was significantly higher (P less than 0.01) in primary hypothyroi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441493
更新日期：1982-10-01 00:00:00
abstract：:In five L-thyroxine-substituted hypothyroid children with partial epilepsy serum total thyroxine (T4) and free T4 (FT4) significantly (P less than 0.01) decreased following 2 months of carbamazepine (CBZ) administration (20 mg/kg per BW per day) from mean (+/- SD) values of 12.7 +/- 1.1 micrograms/dl and 15.5 +/- 1.8 ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441860
更新日期：1986-04-01 00:00:00
abstract：:Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442300
更新日期：1985-03-01 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：:Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this ret...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03576-w
更新日期：2020-06-01 00:00:00
