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 recessi...

journal_title：European journal of pediatrics

authors： Ozen S

更新日期：2003-07-01 00:00:00

abstract：UNLABELLED:This paper presents data obtained by questionnaires sent to local hospitals and metabolic centres in Germany, Austria, Italy and Switzerland concerning the survival and outcome of patients with urea cycle disorders treated between 1975 and 1986. A total of 130 questionnaires were sent out of which 88 questio...

journal_title：European journal of pediatrics

authors： Bachmann C

更新日期：2003-06-01 00:00:00

abstract：UNLABELLED:This prospective clinical case-control study describes the effect of an inpatient multicomponent treatment programme for obese children and adolescents on their weight and psychological well being. We studied 38 patients and 38 controls on the waiting list, matched for age and gender, referred because of obe...

journal_title：European journal of pediatrics

authors： Braet C,Tanghe A,Bode PD,Franckx H,Winckel MV

更新日期：2003-06-01 00:00:00

abstract：UNLABELLED:Familial Mediterranean fever (FMF) is characterised by recurrent fever and serositis. The most important complication of the disease is amyloidosis. Cheap and non-invasive methods would be important in predicting or establishing the early diagnosis of amyloidosis. For this purpose, we studied the role of uri...

journal_title：European journal of pediatrics

authors： Baskin E,Saatçi U,Ciliv G,Bakkaloglu A,Besbas N,Topaloglu R,Ozen S

更新日期：2003-05-01 00:00:00

abstract：UNLABELLED:A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive...

journal_title：European journal of pediatrics

authors： Keegan CE,Martin DM,Quint DJ,Gorski JL

更新日期：2003-04-01 00:00:00

abstract：UNLABELLED:Tracheal bronchus (TB) associated with VACTERL has not been reported previously. A 5-month-old girl with VACTERL association was ventilator-dependent following surgical closure of a patent ductus arteriosus (PDA). Chest radiographs showed persistent hyperinflation of the right upper lobe. Bronchoscopy showed...

journal_title：European journal of pediatrics

authors： Kairamkonda V,Thorburn K,Sarginson R

更新日期：2003-03-01 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

authors： Chiang MC,Lien R,Chao AS,Chou YH,En Chen YJ

更新日期：2003-02-01 00:00:00

abstract：:Coeliac disease and type 1 diabetes mellitus can frequently coexist, presumably due to a common genetic predisposition. The present study was designed to evaluate the frequency of coeliac disease among Hungarian diabetic children and to study the effect of gluten-free diet on glycaemic control. A total of 205 diabetic...

journal_title：European journal of pediatrics

authors： Arató A,Körner A,Veres G,Dezsöfi A,Ujpál I,Madácsy L

更新日期：2003-01-01 00:00:00

abstract：UNLABELLED:We examined published studies from the United States, Europe, and Latin America to better understand geographic and temporal variability in the epidemiology of invasive pneumococcal disease (IPD) in young children. A comparison of IPD incidence levels reported for children <5 years of age within the United S...

journal_title：European journal of pediatrics

authors： Hausdorff WP

更新日期：2002-12-01 00:00:00

abstract：UNLABELLED:We describe a rare case of acute acalculous cholecystitis (AC) due to Salmonella group D infection in a previously healthy child who developed gall bladder empyema and bacteraemia. Salmonella group D was recovered from blood culture, as well as cultures of stool, bile and gall bladder wall samples. The patie...

journal_title：European journal of pediatrics

authors： Lo WT,Wang CC,Chu ML

更新日期：2002-11-01 00:00:00

abstract：UNLABELLED:Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CC...

journal_title：European journal of pediatrics

authors： Morava E,Kárteszi J,Weisenbach J,Caliebe A,Mundlos S,Méhes K

更新日期：2002-11-01 00:00:00

abstract：UNLABELLED:In acute-phase Kawasaki disease, neutrophils cause injury to the coronary arterial endothelium through the production of elastase. Previous research has demonstrated the modulation of neutrophil function and kinetics, such as development and maturation, by granulocyte colony-stimulating factor (G-CSF). To ex...

journal_title：European journal of pediatrics

authors： Samada K,Igarashi H,Shiraishi H,Hatake K,Momoi MY

更新日期：2002-10-01 00:00:00

abstract：UNLABELLED:Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%-75% of affected adults, according to the population studied, and from those report...

journal_title：European journal of pediatrics

authors： Lee PJ

更新日期：2002-10-01 00:00:00

abstract：:Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any f...

journal_title：European journal of pediatrics

authors： Humbert M,Labrune P,Simonneau G

更新日期：2002-10-01 00:00:00

abstract：UNLABELLED:Group A streptococcal (GAS) infection is the most common cause of bacterial pharyngitis and has an important role in the pathogenesis of post-infective phenomena including rheumatic fever and glomerulonephritis. Mortality from GAS is uncommon, particularly in the paediatric population. Toxic shock syndrome r...

journal_title：European journal of pediatrics

authors： Watkins R,Vyas H

更新日期：2002-09-01 00:00:00

abstract：UNLABELLED:Overweight and obesity are major public health issues. Childhood obesity often persists throughout adulthood. Recently a higher prevalence of obesity in adults whose mothers smoked during pregnancy was reported. The aim of this study was to assess whether this association is also detectable in pre-school chi...

journal_title：European journal of pediatrics

authors： Toschke AM,Koletzko B,Slikker W Jr,Hermann M,von Kries R

更新日期：2002-08-01 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

authors： Valentini AL,De Gaetano AM,Destito C,Marino V,Minordi LM,Marano P

更新日期：2002-07-01 00:00:00

abstract：UNLABELLED:In very low birth weight (VLBW) infants, colloid infusion is associated with impaired perinatal lung function and increased oxygen dependency duration. The aim of this study was to determine whether perinatal colloid infusion was associated with abnormal neurodevelopmental outcome. All perinatal fluid input ...

journal_title：European journal of pediatrics

authors： Greenough A,Cheeseman P,Kavvadia V,Dimitriou G,Morton M

更新日期：2002-06-01 00:00:00

abstract：:Two patients with chronic granulomatous disease who had previously been intolerant to trimethoprim-sulfamethoxazole because of various adverse reactions completed a desensitisation protocol with a favourable clinical outcome. ...

journal_title：European journal of pediatrics

authors： Hasui M,Kotera F,Tsuji S,Yamamoto A,Taniuchi S,Fujikawa Y,Nakajima M,Yoshioka A,Kobayashi Y

更新日期：2002-06-01 00:00:00

abstract：UNLABELLED:Neuroleptic malignant syndrome (NMS) is a rare but serious disorder caused by antipsychotic medication including phenothiazines. For sedative purposes, increasing doses of alimemazine were administered to a 4-year-old multiple handicapped girl, with cerebral damage of the basal ganglia. She developed extra-p...

journal_title：European journal of pediatrics

authors： van Maldegem BT,Smit LM,Touw DJ,Gemke RJ

更新日期：2002-05-01 00:00:00

abstract：UNLABELLED:The objective of this open study was to monitor the long-term effectiveness of the Lederle-Takeda diphtheria and tetanus toxoids and acellular pertussis antigen(s) (DTaP) vaccine and the Wyeth-Lederle diphtheria and tetanus toxoids and pertussis whole cell (DTP) vaccine in children who had received four dose...

journal_title：European journal of pediatrics

authors： Lugauer S,Heininger U,Cherry JD,Stehr K

更新日期：2002-03-01 00:00:00

abstract：:When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease. ...

journal_title：European journal of pediatrics

authors： Ito T,Okubo T,Sato H

更新日期：2002-03-01 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

authors： Hejazi N,Witzmann A,Fae P

更新日期：2002-02-01 00:00:00

abstract：UNLABELLED:A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonad...

journal_title：European journal of pediatrics

authors： Morel Y,Rey R,Teinturier C,Nicolino M,Michel-Calemard L,Mowszowicz I,Jaubert F,Fellous M,Chaussain JL,Chatelain P,David M,Nihoul-Fékété C,Forest MG,Josso N

更新日期：2002-01-01 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

authors： Bagtharia R,Kempley ST,Hla TM

更新日期：2001-12-01 00:00:00

abstract：UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

journal_title：European journal of pediatrics

authors： Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

更新日期：2001-11-01 00:00:00

abstract：:From time to time, paediatricians are confronted with children who might suffer from a primary immunodeficiency disease. For practical purposes, these children can be divided into four main clinical categories: (1) a relatively large group of children with recurrent ear-nose and throat and lower respiratory tract infe...

journal_title：European journal of pediatrics

authors： de Vries E,Noordzij JG,Kuijpers TW,van Dongen JJ

更新日期：2001-10-01 00:00:00

abstract：UNLABELLED:Establishing enteral feeding in the very low birth weight infant as soon as possible after birth has been shown to promote growth and reduce the need for intravenous lines. Human milk can be administered either as a continuous infusion or as intermittent boluses. The aim of this study was to investigate the ...

journal_title：European journal of pediatrics

authors： Rojahn A,Lindgren CG

更新日期：2001-10-01 00:00:00

abstract：UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...

journal_title：European journal of pediatrics

authors： Musebeck J,Mohnike K,Beye P,Tönnies H,Neitzel H,Schnabel D,Grüters A,Wieacker PF,Stumm M

更新日期：2001-09-01 00:00:00

abstract：UNLABELLED:To monitor infant care practices associated with risks for sudden infant death, 400 Belgian families with infants less than 6 months old were questioned by 21 paediatricians during routine visits to local paediatric practices and well baby services (11 in urban centres, 10 in rural areas). Because of incompl...

journal_title：European journal of pediatrics

authors： Kahn A,Bauche P,Groswasser J,Dramaix M,Scaillet S,Working Group, Groupe Belge de Pediatres Francophones.

更新日期：2001-08-01 00:00:00

abstract：UNLABELLED:To examine the value of surfactant protein D and KL-6 as markers for the diagnosis and the severity of interstitial pneumonia caused by measles infection, surfactant protein D, KL-6 and lactic acid dehydrogenase were measured serially in three patients with measles complicated by interstitial pneumonia as co...

journal_title：European journal of pediatrics

authors： Arai Y,Obinata K,Sato Y,Hisata K,Tadokoro R,Tawa T,Kinoshita K

更新日期：2001-07-01 00:00:00

abstract：:We report four cases of acute idiopathic scrotal oedema, an underreported cause of acute painless or moderately painfull swelling and erythema of the scrotum in young boys. It is a self-limiting disease and to prevent unnecessary surgical exploration or antibiotic therapy, it is very important to distinguish acute idi...

journal_title：European journal of pediatrics

authors： van Langen AM,Gal S,Hulsmann AR,De Nef JJ

更新日期：2001-07-01 00:00:00

abstract：UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...

journal_title：European journal of pediatrics

authors： Schoetzau A,Gehring U,Wichmann HE

更新日期：2001-06-01 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

authors： Peinemann F,Daldrup T

更新日期：2001-06-01 00:00:00

abstract：UNLABELLED:We describe two adolescent girls with a congenital portosystemic shunt who exhibited hyperandrogenism in addition to insulin resistant hyperinsulinaemia. Case 1 was referred to our clinic to undergo a routine clinical work-up prior to tonsillectomy at 14 years of age. Mild liver dysfunction was identified an...

journal_title：European journal of pediatrics

authors： Satoh M,Yokoya S,Hachiya Y,Hachiya M,Fujisawa T,Hoshino K,Saji T

更新日期：2001-05-01 00:00:00

abstract：UNLABELLED:Over the last decade, substantial progress has been made in the field of pertussis research. This includes better understanding of virulence mechanisms and their influence on the pathogenicity of Bordetella pertussis, increased awareness of the broad spectrum of disease and more insight into the host's immun...

journal_title：European journal of pediatrics

authors： Heininger U

更新日期：2001-04-01 00:00:00

abstract：:Iodine deficiency is well documented in Belgium in adults including pregnant women, adolescents, schoolchildren, and neonates, but no data are available in the age group 6 months-3 years. We investigated the status of iodine nutrition in 111 healthy subjects in this age group in an attempt to evaluate the risk of brai...

journal_title：European journal of pediatrics

authors： Delange F,Wolff P,Gnat D,Dramaix M,Pilchen M,Vertongen F

更新日期：2001-04-01 00:00:00

abstract：:Chronic lung disease of prematurity (CLD) remains a common cause of morbidity and mortality in preterm infants. Oxygen toxicity remains a major risk factor for the development of CLD and as a consequence the antioxidant status of CLD babies is a major focus of interest. In the present study, we determined whether asco...

journal_title：European journal of pediatrics

authors： Vyas JR,Currie A,Dunster C,Kelly FJ,Kotecha S

更新日期：2001-03-01 00:00:00

abstract：UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...

journal_title：European journal of pediatrics

authors： Okano Y,Fujimoto A,Miyagi T,Hirono A,Miwa S,Niihira S,Hirokawa H,Yamano Y

更新日期：2001-02-01 00:00:00

abstract：UNLABELLED:We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated ...

journal_title：European journal of pediatrics

authors： Doi T,Abo W,Tateno M,Hayashi K,Hori T,Nakada T,Fukao T,Takahashi Y,Terada N

更新日期：2000-12-01 00:00:00