Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator.

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：: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：: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

abstract：:The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tub...

journal_title：European journal of pediatrics

authors： Poskanzer SA,Hobensack VL,Ciciora SL,Santoro SL

更新日期：2020-06-01 00:00:00

abstract：UNLABELLED:An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revea...

journal_title：European journal of pediatrics

authors： Matern D,Seydewitz H,Niederhoff H,Wiebusch H,Brandis M

更新日期：1996-08-01 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

authors： Ibáñez-Alcalde MM,Vázquez-López MÁ,López-Ruzafa E,Lendínez-Molinos FJ,Bonillo-Perales A,Parrón-Carreño T

更新日期：2020-10-01 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：:Growth hormone (GH) responses to GRF (1 microgram/kg BW i.v.) were investigated. Comparison between GRF(1-40) and GRF(1-29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1-29)NH2. The maximal GH levels (max GH)...

journal_title：European journal of pediatrics

authors： Ranke MB,Gruhler M,Rosskamp R,Brügmann G,Attanasio A,Blum WF,Bierich JR

更新日期：1986-12-01 00:00:00

abstract：:Iliac vessel disruption following blunt trauma is an unusual presentation, particularly in the absence of an orthopaedic injury. We present the unique case of a 14-year-old boy who sustained a blunt bicycle handlebar impalement that resulted in complete transection of the external iliac artery and laceration of the ex...

journal_title：European journal of pediatrics

authors： Houston EL,Chandrasekar R

更新日期：2012-12-01 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：: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

authors： De Luca F,Arrigo T,Pandullo E,Siracusano MF,Benvenga S,Trimarchi F

更新日期：1986-04-01 00:00:00

abstract：:Kawasaki disease (KD) is associated with coronary artery injury. Studies have shown that the endothelial progenitor cell (EPC) participates in the process of arterial repair. Data have been reported that the number of EPC increased significantly in the subacute phase of KD. However, until now, there are no data about ...

journal_title：European journal of pediatrics

authors： Xu MG,Men LN,Zhao CY,Zhao X,Wang YX,Meng XC,Shen DR,Meng BY,Zhang Q,Wang T

更新日期：2010-03-01 00:00:00

abstract：UNLABELLED:The symptoms of urinary tract infections in infants are very non-specific and have historically included prolonged hyperbilirubinaemia. We studied the results of routine urine samples in 319 infants with prolonged jaundice. Convincing findings of UTI was not found in any of these children even if one of them...

journal_title：European journal of pediatrics

authors： Chowdhury T,Kisat H,Tullus K

更新日期：2015-07-01 00:00:00

abstract：UNLABELLED:Patients diagnosed with intracranial teratoma are at risk for developing a recurrent malignant germ cell tumor. We describe a 14-year-old boy initially diagnosed with a mature teratoma in the pineal region that recurred as a metastatic beta-human chorionic gonadotropin (βHCG)-secreting germ cell tumor 3 year...

journal_title：European journal of pediatrics

authors： Cardellicchio S,Farina S,Buccoliero AM,Agresti B,Genitori L,de Martino M,Fangusaro J,Sardi I

更新日期：2014-08-01 00:00:00

abstract：:All 270 patients presenting with Henoch-Schönlein Purpura over a 13-year period from a total childhood population of 155,000 were studied. This is an incidence of 13.5/100,000 children per year. Fifty-five (20%) were found to have initial evidence of renal involvement, and were re-examined at a mean of 8.3 years later...

journal_title：European journal of pediatrics

authors： Stewart M,Savage JM,Bell B,McCord B

更新日期：1988-02-01 00:00:00

abstract：UNLABELLED:The purpose of this study was to assess how much of the variance in intellectual outcome at 2 and 6 years of age could be attributed to treatment variables in children with congenital hypothyroidism, and which of the parameters used for monitoring treatment predicted later development. Forty-five children, e...

journal_title：European journal of pediatrics

authors： Heyerdahl S

更新日期：1996-05-01 00:00:00

abstract：:The correlation between the appearance of functionally-atypical factor VII and perinatal complications was investigated in 66 newborn infants. The presence of an abnormal clotting factor was assumed if the ratio between clotting activity and antigen-related factor VII material exceeded the normal range for adult plasm...

journal_title：European journal of pediatrics

authors： Maak B,Frenzel J

更新日期：1977-08-12 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

authors： Jaeggi-Groisman SE,Kiess W,Christomanou H,Kessler U,Froesch ER

更新日期：1992-01-01 00:00:00

abstract：:In 166 full term, small-for-gestational-age (FT-SGA), 53 preterm, appropriate-for-gestational-age (PT-AGA), 27 PT-SGA and 206 FT-AGA infants a neurological examination at the age of 6 years was carried out. Data were collected on behaviour and school achievement. Major and minor neurological abnormalities were more fr...

journal_title：European journal of pediatrics

authors： Hadders-Algra M,Huisjes HJ,Touwen BC

更新日期：1988-06-01 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

authors： Ewald DA,Huss G,Auras S,Caceres JR,Hadjipanayis A,Geraedts M

更新日期：2018-06-01 00:00:00

abstract：:An adolescent girl with severe thrombotic thrombocytopenic purpura (TTP) remained in a critical condition after 3 weeks of combined treatment with antiplatelet drugs, plasma infusions and plasma exchange. The introduction of vincristine resulted in gradual improvement and eventual complete remission which lasted for 2...

journal_title：European journal of pediatrics

authors： Van Gool S,Brock P,Van Laer P,Van Damme-Lombaerts R,Proesmans W,Casteels-Van Daele M

更新日期：1994-07-01 00:00:00

abstract：:Protein C deficiency can lead to cerebrovascular occlusive disease. We describe a patient in whom heterozygous protein C deficiency (type 1) is suspected on the grounds of reduced protein C activity and who suffered from multiple thrombo-embolic events involving the brain and peripheral organs. The patient developed h...

journal_title：European journal of pediatrics

authors： Schmitt S,Auberger K,Fendel T,Kiess W

更新日期：1992-06-01 00:00:00

abstract：:Plasma vitamin E levels were determined serially in preterm infants surviving respiratory distress syndrome (RDS) and in premature infants without RDS (control). Vitamin E intakes of the RDS and control infant group were not significantly different. The results of the study show that preterm infants surviving RDS have...

journal_title：European journal of pediatrics

authors： Huijbers WA,Schrijver J,Speek AJ,Deelstra BA,Okken A

更新日期：1986-08-01 00:00:00

abstract：UNLABELLED:In 135 women and 85 men who initially presented for tall stature, the outcome in treated (56 women and 33 men; cases) and untreated (controls) was investigated. At the time of height prediction, cases were significantly taller (P < or = 0.03) than the controls, they had higher target heights (P < 0.001) and ...

journal_title：European journal of pediatrics

authors： Binder G,Grauer ML,Wehner AV,Wehner F,Ranke MB

更新日期：1997-12-01 00:00:00

abstract：:Blood volume was estimated using 51chromium labelled red cells and 125iodinated human serum albumin in 5 children with sepsis, in 6 burned children and 7 children with acute lymphoblastic leukaemia. Studies of the equilibration pattern demonstrated that the mixing time of labelled red cells was prolonged to 40 minutes...

journal_title：European journal of pediatrics

authors： Linderkamp O,Holthausen H,Seifert J,Butenandt I,Riegel KP

更新日期：1977-06-01 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：: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

authors： Goitein KJ,Mussaffi H,Melamed E

更新日期：1983-04-01 00:00:00

abstract：INTRODUCTION:Hypothermia at birth is strongly associated with mortality and morbidity in pre-term infants. BACKGROUND:A local audit showed limited effectiveness of occlusive wrapping in preventing admission hypothermia in very pre-term infants. Self-heating acetate gel mattresses were introduced as a result to prevent...

journal_title：European journal of pediatrics

authors： Ibrahim CP,Yoxall CW

更新日期：2010-07-01 00:00:00

abstract：:Lemierre syndrome, also known as postanginal sepsis, is a severe complication of an acute oropharyngeal infection that results in septic thrombophlebitis of the ipsilateral internal jugular vein with subsequent septicemia, often complicated by metastatic infections (Syed et al., Laryngoscope 117:1605-1610, 2007). We p...

journal_title：European journal of pediatrics

authors： Vargiami EG,Farmaki E,Tasiopoulou D,Zafeiriou DI,Badouraki M,Anastasiou A,Karkos C,Gombakis N,Athanasiou-Metaxa M

更新日期：2010-04-01 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