A case of perineal hypospadias with paracentric inversion of chromosome 14.

abstract：:Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...

journal_title：European journal of pediatrics

authors： Shimizu T,Yamashiro Y,Yabuta K

更新日期：1992-07-01 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：:Recombinant interleukin 2 (rIL2) was administered to a patient with Wiskott-Aldrich syndrome for the treatment of an intractable facial herpetiform lesion. This treatment appeared to be effective in suppressing the virus activity. At the same time, a transient improvement of the chronic eczematoid dermatitis was obser...

journal_title：European journal of pediatrics

authors： Azuma H,Sakata H,Saijyou M,Okuno A

更新日期：1993-12-01 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：:In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...

journal_title：European journal of pediatrics

authors： Lala R,Matarazzo P,Chiabotto P,de Sanctis C,Canavese F,Hadziselimovic F

更新日期：1993-01-01 00:00:00

abstract：INTRODUCTION:Prevention of obesity and overweight is an important target for health promotion. Early prevention requires an intervention during childhood and adolescence. At these stages, the game could be an appropriate means to teach nutrition knowledge and to influence dietary behaviour. To this end, the authors dev...

journal_title：European journal of pediatrics

authors： Amaro S,Viggiano A,Di Costanzo A,Madeo I,Viggiano A,Baccari ME,Marchitelli E,Raia M,Viggiano E,Deepak S,Monda M,De Luca B

更新日期：2006-09-01 00:00:00

abstract：UNLABELLED:Newborn screening for cystic fibrosis (CF), a chronic progressive disease affecting mucus viscosity, has been beneficial in both improving life expectancy and the quality of life for individuals with CF. In New York State from 2007 to 2012 screening for CF involved measuring immunoreactive trypsinogen (IRT) ...

journal_title：European journal of pediatrics

authors： Kay DM,Maloney B,Hamel R,Pearce M,DeMartino L,McMahon R,McGrath E,Krein L,Vogel B,Saavedra-Matiz CA,Caggana M,Tavakoli NP

更新日期：2016-02-01 00:00:00

abstract：UNLABELLED:There are a number of respiratory diseases affecting infants in which there is surfactant dysfunction or deficiency. Surfactant is inactivated by cholesterol, free fatty acids and bilirubin in meconium aspiration syndrome, by haemoglobin and red blood cell lipids in pulmonary haemorrhage and plasma proteins ...

journal_title：European journal of pediatrics

authors： Greenough A

更新日期：2000-09-01 00:00:00

abstract：:The renal function of 12 patients with non vitamin B12 responsive methylmalonic acidaemia has been investigated. Eight patients had reduced glomerular filtration rates, but the plasma creatinine concentration was only raised in those with values of less than 40 ml/min per 1.73 m2 surface area. The reduction in glomeru...

journal_title：European journal of pediatrics

authors： Walter JH,Michalski A,Wilson WM,Leonard JV,Barratt TM,Dillon MJ

更新日期：1989-01-01 00:00:00

abstract：:Less invasive surfactant administration (LISA) is a method to deliver surfactant to spontaneously breathing premature infants via a thin catheter. Here we report the two-year outcome from the AMV (avoid mechanical ventilation) study, the first randomized controlled trial on this mode of surfactant delivery. No statist...

journal_title：European journal of pediatrics

authors： Herting E,Kribs A,Härtel C,von der Wense A,Weller U,Hoehn T,Vochem M,Möller J,Wieg C,Roth B,Göpel W,German Neonatal Network (GNN).

更新日期：2020-08-01 00:00:00

abstract：:Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with Poland syndrome, a common malformation characterized by unilateral hand anomaly and ipsilateral aplasia of the inferior head of the pectoralis major muscle. A marked decrease of the velocity of the systolic in...

journal_title：European journal of pediatrics

authors： Bouvet JP,Leveque D,Bernetieres F,Gros JJ

更新日期：1978-05-22 00:00:00

abstract：:In 41 preterm neonates with a gestational age (GA) varying from 27 to 36 weeks, glomerular filtration rate (GFR) was measured by means of the continuous inulin infusion technique. The reliability of the technique was confirmed. During postnatal development GFR was found to increase in two ways: firstly, an increase wi...

journal_title：European journal of pediatrics

authors： van der Heijden AJ,Grose WF,Ambagtsheer JJ,Provoost AP,Wolff ED,Sauer PJ

更新日期：1988-10-01 00:00:00

abstract：:Haemostasis was studied in 8 tall girls during treatment with high doses of synthetic oestrogens for a period of 1 to 28 months. The girls received 0.5 mg ethinyloestradiol daily from day 1 to day 25 and 15 mg norethisteron daily from day 21 to day 25. All were without clinical signs of thromboembolism. Factors of the...

journal_title：European journal of pediatrics

authors： Muntean W,Borkenstein M

更新日期：1980-09-01 00:00:00

abstract：UNLABELLED:The aim of this study was to assess whether the severity of congenital heart defects (CHD) affects disease-specific health-related quality of life (HRQOL) in children after open heart surgery. One hundred and fourteen children with CHD and one of their parents participated in the study. HRQOL was evaluated b...

journal_title：European journal of pediatrics

authors： Tahirović E,Begić H,Nurkić M,Tahirović H,Varni JW

更新日期：2010-03-01 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

authors： Tahirovic H,Toromanovic A,Grubic M,Grubic Z,Dumic K

更新日期：2009-07-01 00:00:00

abstract：:We present a case of Pott's disease, where the patient presented with neurological impairment due to vertebral granulomatous necrosis, needing immediate decompression and later stabilizing and reconstructive orthopaedic surgery, in order to create awareness for TB in general, especially this forgotten form of spinal t...

journal_title：European journal of pediatrics

authors： van Well GT,van der Mark LB,Vermeulen RJ,van Royen BJ,Wuisman PI,van Furth AM

更新日期：2007-10-01 00:00:00

abstract：INTRODUCTION:Newborns with intrauterine growth retardation (IUGR) have multiple risk factors for developing hypoglycaemia. Hyperinsulinism, both transient and prolonged, is one of the major risk factors responsible for the hypoglycaemia observed in some newborns with IUGR. Once the child has progressed beyond the infan...

journal_title：European journal of pediatrics

authors： Kochar IS,Hussain K

更新日期：2007-10-01 00:00:00

abstract：UNLABELLED:Atypical hemolytic uremic syndrome (HUS) refers to the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury in the absence of Shiga toxin-producing Escherichia coli exposure or Streptococcus pneumoniae infection. Currently, approximately 50 % of the atypical cases have demons...

journal_title：European journal of pediatrics

authors： Ruebner RL,Kaplan BS,Copelovitch L

更新日期：2012-10-01 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：:This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants w...

journal_title：European journal of pediatrics

authors： Strnadová KA,Votava F,Lebl J,Mühl A,Item C,Bodamer OA,Torresani T,Bouska I,Waldhauser F,Sperl W

更新日期：2007-01-01 00:00:00

abstract：:We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficien...

journal_title：European journal of pediatrics

authors： Ozbay Hosnut F,Ozcay F,Selda Bayrakci U,Avci Z,Ozbek N

更新日期：2008-12-01 00:00:00

abstract：UNLABELLED:To study the developmental effects of prenatal exposure to opiates, a prospective follow up study of 34 drug-exposed (opiates and nicotine) and 42 reference infants (nicotine exposure only) was conducted from January 1992 to September 1995. At the time of delivery, 12 of 34 mothers used opiates without medic...

journal_title：European journal of pediatrics

authors： Bunikowski R,Grimmer I,Heiser A,Metze B,Schäfer A,Obladen M

更新日期：1998-09-01 00:00:00

abstract：:A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of a...

journal_title：European journal of pediatrics

authors： Søvik O,Lie SO,Fluge G,Van Hoof F

更新日期：1980-12-01 00:00:00

abstract：UNLABELLED:Biochemical and molecular genetic studies were performed on the enzyme variants of two patients compound heterozygous for glucose phosphate isomerase (GPI) deficiency, both suffering from severe haemolytic anaemia. The enzymes of case 1 (GPI 'Zwickau') and case 2 (GPI 'Nordhorn' [25]), revealed reduced GPI a...

journal_title：European journal of pediatrics

authors： Huppke P,Wünsch D,Pekrun A,Kind R,Winkler H,Schröter W,Lakomek M

更新日期：1997-08-01 00:00:00

abstract：UNLABELLED:Suppurative parotitis is uncommon in newborns. During a 9-year study period, five cases of neonatal suppurative parotitis were detected in 3,624 hospital admissions. The relative risk of developing neonatal suppurative parotitis in admitted infants was 5.52 (0.62-49.35). Staphylococcus aureus was the causati...

journal_title：European journal of pediatrics

authors： Sabatino G,Verrotti A,de Martino M,Fusilli P,Pallotta R,Chiarelli F

更新日期：1999-04-01 00:00:00

abstract：UNLABELLED:The treatment of blunt splenic injuries (BSI) has undergone a significant shift away from an operative approach to a conservative treatment regimen in the last decades. Data concerning long-term follow-up of children sustaining BSI are largely confined to telephone surveys. Children treated with BSI over a 3...

journal_title：European journal of pediatrics

authors： Singer G,Rieder S,Eberl R,Wegmann H,Hoellwarth ME

更新日期：2013-09-01 00:00:00

abstract：:A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zell...

journal_title：European journal of pediatrics

authors： Barth PG,Schutgens RB,Bakkeren JA,Dingemans KP,Heymans HS,Douwes AC,van der Klei-van Moorsel JM

更新日期：1985-11-01 00:00:00

abstract：:A 7-year-old boy developed acute, severe hypercalcaemia following the partial excision of a cerebellar medulloblastoma. The serum calcium level was extremely high (19.8 mg/100 ml), but a skeletal survey revealed no apparent bone metastatic lesions; such lesions were only detected by X-ray 3 weeks after the onset of hy...

journal_title：European journal of pediatrics

authors： Arisaka O,Obinata K,Yabuta K,Ishimoto K,Sato K

更新日期：1987-07-01 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：: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

authors： Hofer KD,Saurenmann RK

更新日期：2017-05-01 00:00:00