abstract：:Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...

journal_title：European journal of pediatrics

authors： Hennekam RC,Barth PG,Van Lookeren Campagne W,De Visser M,Dingemans KP

更新日期：1991-07-01 00:00:00

abstract：:A 17-year-old patient suffering from Crohn disease (CD) and liver cirrhosis is presented. At an advanced stage of the disease, he died of a concomitant urosepsis. Autopsy showed that the liver cirrhosis was caused by sclerosing cholangitis. This very rare complication of CD in adolescence is discussed. ...

journal_title：European journal of pediatrics

authors： Ramelli GP,Tönz O,Zimmermann A,Lentze MJ

更新日期：1991-06-01 00:00:00

abstract：:A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-h...

journal_title：European journal of pediatrics

authors： Clayton PT,Bridges NA,Atherton DJ,Milla PJ,Malone M,Bender DA

更新日期：1991-05-01 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

authors： Gasparoni A,Chirico G,De Amici D,Marconi M,Belloni C,Mingrat G,Rondini G

更新日期：1991-05-01 00:00:00

abstract：:An 11-year-old boy with chronic granulomatous disease caused by cytochrome b deficiency developed right upper lung lobe aspergillosis. Intracerebral lesions developed on maximum doses of flucytosine and amphotericin B. Treatment with 16 mg/kg oral itraconazole was followed by a dramatic clinical improvement and almost...

journal_title：European journal of pediatrics

authors： Kloss S,Schuster A,Schroten H,Lamprecht J,Wahn V

更新日期：1991-05-01 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

authors： Priftis K,Everard ML,Milner AD

更新日期：1991-04-01 00:00:00

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

authors： Galanello R,Lilliu F,Bertolino F,Cao A

更新日期：1991-04-01 00:00:00

abstract：:To clarify the relationship between hyperbilirubinaemia and abnormal results of biochemical liver function tests in infants with breast milk jaundice (BMJ), 58 breast-fed infants with indirect hyperbilirubinaemia were enrolled in this study. Sera obtained from the above infants were subjected to routine liver function...

journal_title：European journal of pediatrics

authors： Tazawa Y,Abukawa D,Watabe M,Nakagawa M,Yamada M

更新日期：1991-03-01 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

authors： Brichard B,Sokal E,Gosseye S,Buts JP,Gadisseux JF,Cornu G

更新日期：1991-03-01 00:00:00

abstract：:We report the 9-year follow-up of a patient suffering from N-acetylglutamate synthetase deficiency, an urea cycle disorder leading to severe neonatal hyperammonaemia. Hitherto two patients from two families with this inborn error of metabolism had been observed. Our management consisted mainly of a protein-restricted ...

journal_title：European journal of pediatrics

authors： Schubiger G,Bachmann C,Barben P,Colombo JP,Tönz O,Schüpbach D

更新日期：1991-03-01 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

authors： Ino T,Shimazaki S,Nishimoto K,Akimoto K,Iwahara M,Yabuta K,Watanabe M,Tanaka A,Hosoda Y

更新日期：1991-02-01 00:00:00

abstract：:Two matched groups of term newborn infants with idiopathic jaundice were subjected to intensive double direction green or blue light phototherapy (PT). The efficacy of treatment was expressed as rate of decline of serum bilirubin concentration after 6, 12 and 24 h of light exposure. More rapid response was obtained us...

journal_title：European journal of pediatrics

authors： Amato M,Inaebnit D

更新日期：1991-02-01 00:00:00

abstract：:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...

journal_title：European journal of pediatrics

authors： Danks DM

更新日期：1991-01-01 00:00:00

abstract：:Two siblings were found to be affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one of which died suddenly and unexpectedly on the 3rd day of life suffering from extreme hypoketotic hypoglycaemia. The younger sibling started to have feeding problems, lowered consciousness, and liver dysfunction at the...

journal_title：European journal of pediatrics

authors： Duran M,Wanders RJ,de Jager JP,Dorland L,Bruinvis L,Ketting D,Ijlst L,van Sprang FJ

更新日期：1991-01-01 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

authors： Braga SE,Gerber A,Meier C,Weiersmüller A,Zimmermann A,Herrmann U,Liechti S,Moser H

更新日期：1990-12-01 00:00:00

abstract：:Two children with congenital cytomegalovirus infection and intracerebral echogenicities were investigated by computer sonography and colour Doppler imaging (CDI). By simultaneous imaging of brain tissue and CDI, blood flow within the stripe-like echogenicities of the basal ganglia was demonstrated. Using CDI the echog...

journal_title：European journal of pediatrics

authors： Ries M,Deeg KH,Heininger U

更新日期：1990-11-01 00:00:00

abstract：:We investigated 55 children, aged from 24 months to 14 years with neurogenic bladder dysfunction secondary to myelomeningocele, by serial urodynamic. They were serially evaluation over 2-5 years. Management consisted of drug therapy together with intermittent vesical catheterization in different combinations on the ba...

journal_title：European journal of pediatrics

authors： Castro-Gago M,Novo I,Cimadevila A,Peña J,Rodriguez-Núñez A,Marqués'-Queimadelos A

更新日期：1990-11-01 00:00:00

abstract：:The objective of this study was to investigate the clinical applicability of pulse oximetry to measure haemoglobin oxygen saturation and heart rate in the first 20 min of life and to analyse the effect of pre- or post-ductal (hand, respectively, foot) fixation of sensors on oxygen saturation. Measurements were carried...

journal_title：European journal of pediatrics

authors： Meier-Stauss P,Bucher HU,Hürlimann R,König V,Huch R

更新日期：1990-09-01 00:00:00

abstract：:Since immunological disorders have been demonstrated in patients with Diamond-Blackfan anaemia (DBA), intravenous immunoglobulins (IVIG) were administered to a 14-year-old girl with DBA and congenital malformations, previously treated with corticosteroids and blood transfusions. No therapeutic effect was observed. ...

journal_title：European journal of pediatrics

authors： Miceli Sopo S,Pesaresi MA,Pastore M,Stabile A

更新日期：1990-08-01 00:00:00

abstract：:A girl developed acute agranulocytosis (45/mm3), 37 days after the onset of infectious mononucleosis. The bone marrow showed myeloid hyperplasia with maturation arrest and erythroid hypoplasia. A normal amount of colony forming units of granulocytes and macrophages (CFU-GM) colonies with a relative high number of clus...

journal_title：European journal of pediatrics

authors： Sumimoto S,Kasajima Y,Hamamoto T,Miyanomae T,Iwai Y,Mayumi M,Mikawa H

更新日期：1990-07-01 00:00:00

abstract：:We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a...

journal_title：European journal of pediatrics

authors： Hamers A,Jongbloet P,Peeters G,Fryns JP,Geraedts J

更新日期：1990-06-01 00:00:00

abstract：:We describe a preterm infant with severe idiopathic respiratory distress syndrome (iRDS, hyaline membrane disease) who needed artificial ventilation with high inspiratory pressure, high frequencies, 100% oxygen and developed a symptomatic patent ductus arteriosus (sPDA) in the course of the disease. The infant was giv...

journal_title：European journal of pediatrics

authors： Schuster V,von Stockhausen HB,Seyberth HW

更新日期：1990-06-01 00:00:00

abstract：:We studied the clinical features, laboratory and thyroid functions and thyrotropin (TSH)-receptor and thyroid-stimulation antibodies in 21 patients with atrophic auto-immune thyroiditis (AAT) and 48 patients with goitrous auto-immune thyroiditis (GAT) of childhood onset. The clinical features of patient with AAT were ...

journal_title：European journal of pediatrics

authors： Matsuura N,Konishi J,Yuri K,Harada S,Fujieda K,Nohara Y,Mikami Y,Kasagi K,Iida Y,Hosoda A

更新日期：1990-05-01 00:00:00

abstract：:A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findi...

journal_title：European journal of pediatrics

authors： Caramia GM,Baroncini A,Osimani P,Forabosco A

更新日期：1990-04-01 00:00:00

abstract：:Serum immunoreactive erythropoietin (siEPO) was determined in cord serum from neonates (n = 97, gestational age 36-43 weeks), in healthy children from birth to adolescence (n = 260) and in children with haematological (n = 30), renal (n = 10) and congenital heart diseases (n = 70). In healthy children siEPO levels dec...

journal_title：European journal of pediatrics

authors： Eckardt KU,Hartmann W,Vetter U,Pohlandt F,Burghardt R,Kurtz A

更新日期：1990-04-01 00:00:00

abstract：:A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosidase...

journal_title：European journal of pediatrics

authors： García-Consuegra J,Padrón M,Jaureguizar E,Carrascosa C,Ramos J

更新日期：1990-04-01 00:00:00

abstract：:We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...

journal_title：European journal of pediatrics

authors： Royce PM,Steinmann B,Vogel A,Steinhorst U,Kohlschuetter A

更新日期：1990-04-01 00:00:00

abstract：:Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic...

journal_title：European journal of pediatrics

authors： Thompson GN,Walter JH,Bresson JL,Bonnefont JP,Saudubray JM,Leonard JV,Halliday D

更新日期：1990-03-01 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

authors： Brockstedt M,Smit LM,de Grauw AJ,van der Klei-van Moorsel JM,Jakobs C

更新日期：1990-02-01 00:00:00

abstract：:Of 496 neonates and infants less than 1 year of age admitted to the paediatric surgical intensive care unit (PSICU) over a 5 year period (1983-1987), 94 required total parenteral nutrition (TPN) for more than 14 consecutive days, generally due to congenital anomalies of the digestive tract. Cholestasis occurred in 15 ...

journal_title：European journal of pediatrics

authors： Bos AP,Tibboel D,Hazebroek FW,Bergmeijer JH,van Kalsbeek EJ,Molenaar JC

更新日期：1990-02-01 00:00:00

abstract：:We examined the long-term outcome in 111 children who had convulsions during shigellosis and were followed for 3-18 years after the incident. No deaths or persistent motor deficits occurred as sequellae. Poor coordination of fine hand movements were noted in 3.3% of the 92 children who had no pre-existing neurological...

journal_title：European journal of pediatrics

authors： Zvulunov A,Lerman M,Ashkenazi S,Weitz R,Nitzan M,Dinari G

更新日期：1990-01-01 00:00:00

abstract：:Two unique associations of disease with Escherichia coli O157:H7 are presented. These cases broaden the spectrum of disease associated with this organism which currently includes bloody and non-bloody diarrhoea, haemolytic-uraemic syndrome, and thrombotic thrombocytopenic purpura. ...

journal_title：European journal of pediatrics

authors： Cimolai N,Anderson JD,Bhanji NM,Chen L,Blair GK

更新日期：1990-01-01 00:00:00

abstract：:A series of information processing tasks was administered to 22 PKU children aged 8.5 years who had been under dietary treatment since birth as well as to 20 controls of the same age. This contribution presents the results of two tasks from this series: a continuous performance task and a calculation task. The continu...

journal_title：European journal of pediatrics

authors： de Sonneville LM,Schmidt E,Michel U,Batzler U

更新日期：1990-01-01 00:00:00

abstract：:We report three brothers who developed nephrosis between the age of 3-10 years. The parents were nonconsanguineous and of Arab descent. The mother's sister had a son with a similar condition. Patients were steroid responders and frequent relapsers. Renal biopsies in the three brothers showed findings of minimal change...

journal_title：European journal of pediatrics

authors： Awadalla NB,Teebi AS,Elzouki AY,Shaltout A

更新日期：1989-12-01 00:00:00

abstract：:IgG subclass levels were determined in 448 normal children from 6 months to 18 years of age and in 141 healthy adults by radial immunodiffusion using monoclonal antibodies. Age-normal percentile values were calculated for each year of age up to 18 years for IgG1, IgG2, IgG3 and in adults for all four subclasses. The b...

journal_title：European journal of pediatrics

authors： Plebani A,Ugazio AG,Avanzini MA,Massimi P,Zonta L,Monafo V,Burgio GR

更新日期：1989-12-01 00:00:00

abstract：:The insulin-like growth factors (IGF-I and IGF-II) circulate bound to specific proteins. Two classes of binding proteins have been relatively well characterized differing in size, immunological activity, and physiological function. This review summarizes the more recent data on IGF-binding proteins, focusing on their ...

journal_title：European journal of pediatrics

authors： Cianfarani S,Holly JM

更新日期：1989-11-01 00:00:00

abstract：:Three infants with severe combined immunodeficiency and adenosine deaminase (ADA) deficiency were treated by T-cell depleted bone marrow transplantation (BMT), using human leukocyte antigen (HLA)-haploidentical parents as donors. In the first patient, two initial transplants failed to engraft and no change of the immu...

journal_title：European journal of pediatrics

authors： Bluetters-Sawatzki R,Friedrich W,Ebell W,Vetter U,Stoess H,Goldmann SF,Kleihauer E

更新日期：1989-11-01 00:00:00

abstract：:We studied, in vitro, different commercially available components for pneumothorax drainage, i.e. drainage tubes, Heimlich flutter valve and vacuum control units. The drainage of a pneumothorax by a drainage tube was, as expected, directly dependent on Poiseuille's law and was influenced more by diameter than length. ...

journal_title：European journal of pediatrics

authors： Bakker JC,Liem M,Wijnands JB,Karsdon J,Berger HM

更新日期：1989-10-01 00:00:00

abstract：:The case history of a 10-year-old boy with chronic granulomatous disease (CGD) and gastric obstruction is presented. First abdominal symptoms occurred at 4 years of age when antral narrowing was detected. Due to unresponsiveness to antibiotic and steroid treatment, salazosulfapyridine therapy was initiated. Objective ...

journal_title：European journal of pediatrics

authors： Stopyrowa J,Fyderek K,Sikorska B,Kowalczyk D,Zembala M

更新日期：1989-10-01 00:00:00

abstract：:Twenty patients with enzymatically proven glycogen storage disease type III (GSD III) aged 3-30 years underwent cardiological evaluation. Seventeen showed subclinical evidence of cardiac involvement in form of ventricular hypertrophy on ECG. Of 16 patients in whom an ECG examination was performed, 13 had abnormal echo...

journal_title：European journal of pediatrics

authors： Moses SW,Wanderman KL,Myroz A,Frydman M

更新日期：1989-08-01 00:00:00