Rubinstein-Taybi syndrome in a mother and son.

abstract：:Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactat...

journal_title：European journal of pediatrics

authors： Aynsley-Green A,Weindling AM,Soltész G,Jenkins PA

更新日期：1983-12-01 00:00:00

abstract：:Perinatal transmission remains the main cause of HIV infection in the pediatric population. Treatment of HIV-infected children has become less of a problem in resource-rich countries with a remarkable decrease of perinatal infections, resulting in an effective prevention of mother-to-child transmission and antiretrovi...

journal_title：European journal of pediatrics

authors： Brichard B,Van der Linden D

更新日期：2009-04-01 00:00:00

abstract：:The factors influencing the final height of central precocious puberty patients treated with gonadotrophin releasing hormone (GnRH) analogues remain a critical issue. This study compares the predicted final height before and after GnRH analogue therapy to identify predictive factors for final height. Fourteen girls wi...

journal_title：European journal of pediatrics

authors： Brauner R,Malandry F,Rappaport R

更新日期：1992-10-01 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：:A 10-month-old infant is described who suffered from extensive atopic dermatitis, failure to thrive, hypoalbuminaemia and oedema. Large amounts of sticky exudate were lost through the skin and were shown to be rich in albumin. As renal and intestinal loss of protein was excluded, the patient's condition was ascribed t...

journal_title：European journal of pediatrics

authors： Abrahamov A,Schifmann R,Goldstein R,Tal Y,Freier S

更新日期：1986-08-01 00:00:00

abstract：UNLABELLED:Breast milk samples from three groups of Brazilian women were evaluated for their inhibitory effect on enteropathogenic Escherichia coli (EPEC) adhesion to HEp-2 cells: G1, mothers delivering preterm babies of appropriate birth weight (n = 12); G2, mothers delivering term babies of low birth weight (n = 11);...

journal_title：European journal of pediatrics

authors： Delneri MT,Carbonare SB,Silva ML,Palmeira P,Carneiro-Sampaio MM

更新日期：1997-06-01 00:00:00

abstract：UNLABELLED:Varicella-related neurological complications usually appear after the rash. Pre-eruptive neurological complications of primary varicella zoster virus infections have been rarely described. We report on a 5.5-year-old boy who developed encephalitis 4 days before the onset of a mild vesicular skin rash and 5 d...

journal_title：European journal of pediatrics

authors： Wagner HJ,Seidel A,Grande-Nagel I,Kruse K,Sperner J

更新日期：1998-10-01 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：UNLABELLED:Self-medication is a common event. To use drugs correctly, a basic knowledge about drugs is required. Poor data are available about adults' drug knowledge. Furthermore, adolescents' basic drug knowledge has not been investigated. This study was designed in order to explore adolescents' drug use and knowledge...

journal_title：European journal of pediatrics

authors： Stoelben S,Krappweis J,Rössler G,Kirch W

更新日期：2000-08-01 00:00:00

abstract：:GB virus C (GBV-C) is a blood-borne flavivirus. The prevalence of GBV-C viremia among healthy adults is 0.5% to 4% and, to date, no disease has been definitely associated with GBV-C infection. We conducted a cross-sectional study to evaluate GBV-C viremia prevalence in a group of 327 healthy children with normal alani...

journal_title：European journal of pediatrics

authors： Claret G,Noguera A,González-Cuevas A,García-García JJ,Fortuny C,Muñoz-Almagro C

更新日期：2008-09-01 00:00:00

abstract：:Necrotizing enterocolitis (NEC) is usually considered to be a neonatal disease, and is rarely described beyond the newborn period. During the last 15 years, 19 infants from the Negev region, Israel, with NEC were beyond the neonatal age group (range = 34-616 days, median = 90 days). Of this group only 16% were born pr...

journal_title：European journal of pediatrics

authors： Dagan R,Ben-Yacov O,Mares AJ,Moses SW,Bar-Ziv J

更新日期：1984-04-01 00:00:00

abstract：:An adapted cow's milk formula with or without supplemental taurine (480 mumol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine conc...

journal_title：European journal of pediatrics

authors： Michalk DV,Ringeisen R,Tittor F,Lauffer H,Deeg KH,Böhles HJ

更新日期：1988-04-01 00:00:00

abstract：:Ethnic classification does not correlate well with skin tone. As there are no neonatal skin color scales, we aimed to create and validate one of our own. After creating the scale and briefly training our staff, we conducted a prospective, observational study to assess reproducibility and correlation of each scale colo...

journal_title：European journal of pediatrics

authors： Maya-Enero S,Candel-Pau J,Garcia-Garcia J,Giménez-Arnau AM,López-Vílchez MÁ

更新日期：2020-09-01 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：:Our prior studies of the molecular epidemiology of group A streptococcus (GAS) pharyngitis indicated that the most common emm types associated with pediatric pharyngitis in North America were 12, 1, 28, and 4. We previously reported that the proportions of pediatric pharyngitis due to emm types 12 and 4 decreased with...

journal_title：European journal of pediatrics

authors： Jaggi P,Dale JB,Chiang E,Beniwal P,Kabat W,Shulman ST

更新日期：2009-06-01 00:00:00

abstract：:Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family,...

journal_title：European journal of pediatrics

authors： Ostergaard E,Schwartz M,Batbayli M,Christensen E,Hjalmarson O,Kollberg G,Holme E

更新日期：2010-02-01 00:00:00

abstract：:Cardiovascular abnormalities were evaluated in 64 children aged between 1 year 9 months and 25 years with mucopolysaccharidoses (MPS) and related disorders. A heart murmur was heard in 18 patients, but in only 6 was it characteristic for specific valvular lesions. Echocardiography was performed in 63 children. In one ...

journal_title：European journal of pediatrics

authors： Dangel JH

更新日期：1998-07-01 00:00:00

abstract：UNLABELLED:Dynamic processes are of great interest in the study of lipid and fatty acid metabolism. Their in vivo investigation is now possible with the use of stable isotope tracers and the available sensitive analytical technology. We present some examples demonstrating the assessment of lipid oxidation as well as mo...

journal_title：European journal of pediatrics

authors： Demmelmair H,Sauerwald T,Koletzko B,Richter T

更新日期：1997-08-01 00:00:00

abstract：INTRODUCTION:Randomly estimated fasting hyperglycaemia in an asymptomatic individual may represent the first sign of pancreatic beta-cell dysfunction. OBJECTIVE:We aimed at specifying the genetic aetiology of asymptomatic hyperglycaemia in a cohort of children and adolescents. SUBJECTS AND METHODS:We analysed the aet...

journal_title：European journal of pediatrics

authors： Feigerlová E,Pruhová S,Dittertová L,Lebl J,Pinterová D,Kolostová K,Cerná M,Pedersen O,Hansen T

更新日期：2006-07-01 00:00:00

abstract：:The development of visual acuity and stereopsis was studied in 321 boys and 340 girls aged between 5 and 10 years. Visual acuity was assessed by the E test and a modified version of the STYCAR test, stereo acuity by the Lang-Stereo test [17]. Both vision tests showed an increase in the median visual acuity between the...

journal_title：European journal of pediatrics

authors： Schmid M,Largo RH

更新日期：1986-12-01 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

authors： Keenswijk W,Vanmassenhove J,Raes A,Dhont E,Vande Walle J

更新日期：2017-03-01 00:00:00

abstract：:An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...

journal_title：European journal of pediatrics

authors： Fuhrmann W,Fuhrmann-Rieger A,de Sousa F

更新日期：1980-03-01 00:00:00

abstract：UNLABELLED:Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder commonly prevalent in children worldwide including Thailand. However, there are very few studies thus far addressing risk factors for ASD in Thai children. This case-control study aims to investigate whether various risk factors es...

journal_title：European journal of pediatrics

authors： Khaiman C,Onnuam K,Photchanakaew S,Chonchaiya W,Suphapeetiporn K

更新日期：2015-10-01 00:00:00

abstract：UNLABELLED:In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. [8]. Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the...

journal_title：European journal of pediatrics

authors： Lagae L

更新日期：2000-08-01 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：:Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retr...

journal_title：European journal of pediatrics

authors： Vallet C,Escudier E,Roudot-Thoraval F,Blanchon S,Fauroux B,Beydon N,Boulé M,Vojtek AM,Amselem S,Clément A,Tamalet A

更新日期：2013-08-01 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：:This was a retrospective study documenting all pacemaker implantations (PMIs) secondary to postoperative atrioventricular block. A total of 26 patients were included between 2011 and 2020. The incidence rate was 1.8%, with a median follow-up time of 4.5 years. At the time of the initial PMI, the median weight was 5 kg...

journal_title：European journal of pediatrics

authors： Ebrahim MA,Ashkanani HK,Alramzi RS,Malhas ZI,Al-Bahrani M,Sadek AA,Elsayed MA,Lyubomudrov VG

更新日期：2020-12-01 00:00:00

abstract：:Shock is a state of circulatory dysfunction and its diagnosis is complex in neonates. Hemodynamic assessment using echocardiography has potential to guide better management regimes in neonates with shock. Objective of this study is to analyze changes in the echocardiographic parameters in preterm neonates with shock a...

journal_title：European journal of pediatrics

authors： Pawale D,Murki S,Kulkarni D,Vardhelli V,Sharma D,Oleti T,Kiran S,Bakhru S,Koneti NR

更新日期：2020-12-01 00:00:00

abstract：UNLABELLED:A 9-year-old boy lost almost all his small bowel after an acute volvulus due to a congenital, but previously unsuspected malrotation. Survival using total parenteral nutrition is possible in these cases, but the medical burden is heavy. Small intestinal transplantation was performed for the first time in the...

journal_title：European journal of pediatrics

authors： Severijnen R,Hulstijn-Dirkmaat I,Gordijn B,Bakker L,Bongaerts G

更新日期：2003-11-01 00:00:00