Phenylketonuria: treatment in adolescence and adult life.

abstract：UNLABELLED:This study aimed to determine the population pharmacokinetics of doxapram in low-birth-weight (LBW) infants. A total of 92 serum concentration measurements that were obtained from 34 Japanese neonates were analyzed using nonlinear mixed-effect modeling (NONMEM). Estimates generated by NONMEM indicated that c...

journal_title：European journal of pediatrics

authors： Ogawa Y,Irikura M,Kobaru Y,Tomiyasu M,Kochiyama Y,Uriu M,Ishitsuka Y,Kondo Y,Yukawa E,Kamada N,Ohno H,Yamazaki T,Irie T

更新日期：2015-04-01 00:00:00

abstract：:We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases ...

journal_title：European journal of pediatrics

authors： Bühler EM,Bühler UK,Stalder GR,Jani L,Jurik LP

更新日期：1980-03-01 00:00:00

abstract：:We aimed to demonstrate the value of monitoring infants with arteriovenous malformation (AVM) during endovascular embolization with integrated evaluation of hemodynamics (IEH) and guiding decisions according to the underlying pathophysiology. This is a retrospective analysis of the perioperative hemodynamics data for ...

journal_title：European journal of pediatrics

authors： Selim A,El Wahab AA,Salem H,Yahmadi MA,Al Aisary S,Malviya M,ALhabsi A,Elsayed Y

更新日期：2021-01-01 00:00:00

abstract：:A 5-year-old male child presented with progressively increasing asymmetrical overgrowth of limbs, hyperpigmentation on the right half of the body, and mental retardation since 9 months of age. ...

journal_title：European journal of pediatrics

authors： Sethi SK,Yadav D,Garg P,Chawla J,Goyal D

更新日期：2011-06-01 00:00:00

abstract：:Although they account for a small proportion of burns in paediatrics, injuries from chemicals can be just as devastating as other mechanisms of burn injury. At least 25,000 chemicals exist which can cause burns: in children, they are often caused by household chemicals via accidental exposure. The mechanism by which c...

journal_title：European journal of pediatrics

authors： Nguyen ATM,Chamberlain K,Holland AJA

更新日期：2021-01-06 00:00:00

abstract：:This article summarizes some research on the development of motion perception in early infancy. The sensitivity for slow and rapid motion was studied with 1-month-old and 3-month-old babies. The findings suggest that there are different developmental courses for the detection of slow and rapid motion. The ability to d...

journal_title：European journal of pediatrics

authors： Kaufmann F

更新日期：1995-01-01 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:The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a het...

journal_title：European journal of pediatrics

authors： Papagrigorakis MJ,Synodinos PN,Daliouris CP,Metaxotou C

更新日期：2003-09-01 00:00:00

abstract：:Vitamin K prophylaxis in infancy aims to prevent life-threatening vitamin K deficiency bleeding (VKDB). The Dutch prophylactic oral daily regimen was increased sixfold from 25 to 150 μg because of a high failure rate. To evaluate the efficacy of this new regimen, incidences of intracranial VKDB under both regimens wer...

journal_title：European journal of pediatrics

authors： Löwensteyn YN,Jansen NJG,van Heerde M,Klein RH,Kneyber MCJ,Kuiper JW,Riedijk MA,Verlaat CWM,Visser IHE,van Waardenburg DA,van Hasselt PM

更新日期：2019-07-01 00:00:00

abstract：:Serial ultrasound examinations were performed through the anterior fontanelle to detect and follow subependymal pseudocysts (SP) in 19 neonates without severe malformations. A high-resolution real-time sector scanner was employed. In 8 cases the SP involved both lateral ventricles, in 11 cases they were unilateral and...

journal_title：European journal of pediatrics

authors： Zorzi C,Angonese I

更新日期：1989-02-01 00:00:00

abstract：UNLABELLED:Anatomical face mask with an air cushion rim might be placed accidentally in a false orientation on the newborn's face or filled with various amounts of air during neonatal resuscitation. Both false orientation as well as variable filling may reduce a tight seal and therefore hamper effective positive pressu...

journal_title：European journal of pediatrics

authors： Deindl P,O'Reilly M,Zoller K,Berger A,Pollak A,Schwindt J,Schmölzer GM

更新日期：2014-01-01 00:00:00

abstract：:Mid-aortic syndrome is characterized by narrowing of the abdominal aorta, usually with the involvement of renal arteries and other visceral branches. The combination of the presence of an abdominal bruit, diminished or absent pulsations of the lower extremities, and a blood pressure discrepancy between upper and lower...

journal_title：European journal of pediatrics

authors： ten Dam K,van der Palen RL,Tanke RB,Schreuder MF,de Jong H

更新日期：2013-03-01 00:00:00

abstract：:Antithyroid drugs, considered the treatment of choice for hyperthyroidism during pregnancy, may have an adverse effect on intellectual development of the offspring. We examined the intellectual capacity of 31 subjects aged 4-23 years, born to women with Graves disease who received antithyroid drugs throughout pregnanc...

journal_title：European journal of pediatrics

authors： Eisenstein Z,Weiss M,Katz Y,Bank H

更新日期：1992-08-01 00:00:00

abstract：:In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of ch...

journal_title：European journal of pediatrics

authors： Crinò A,Di Giorgio G,Schiaffini R,Fierabracci A,Spera S,Maggioni A,Gattinara GC

更新日期：2008-12-01 00:00:00

abstract：:We report on a newborn infant with complex congenital heart disease (CHD) featuring double outlet right ventricle and hypoplastic left ventricle who had postductal oxygen saturation well above 95% and thus eluded pulse oximetry screening for CHD. ...

journal_title：European journal of pediatrics

authors： Hetzel PG,Glanzmann R,Günthard J,Bruder E,Godi E,Bührer C

更新日期：2007-06-01 00:00:00

abstract：:Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operati...

journal_title：European journal of pediatrics

authors： Kuhnle U,Bullinger M,Schwarz HP

更新日期：1995-09-01 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：:Central line-associated bloodstream infection (CLABSI) is a significant cause of morbidity and mortality in neonatal intensive care units (NICUs). A "bundle" is defined as a combination of evidence-based interventions that provided they are followed collectively and reliably, are proven to improve patient outcomes. Th...

journal_title：European journal of pediatrics

authors： Bierlaire S,Danhaive O,Carkeek K,Piersigilli F

更新日期：2021-02-01 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：BACKGROUND:The tuberculin skin test (TST) is the most useful method for the diagnosis of tuberculosis (TB). There is no evidence about the effect of bacillus Calmette-Guerin (BCG) vaccine on the interpretation of TST results. OBJECTIVE:The aim of this study was to evaluate TST results in a population of immigrants and...

journal_title：European journal of pediatrics

authors： Piñeiro R,Mellado MJ,Cilleruelo MJ,García-Ascaso M,Medina-Claros A,García-Hortelano M

更新日期：2012-11-01 00:00:00

abstract：UNLABELLED:Lemierre syndrome used to be a complication of severe oropharyngeal infection with regional thrombophlebitis, septicaemia and septic metastatic infections caused by Fusobacterium necrophorum in the pre-antibiotic era. A case of septic arthritis of the hip caused by F. necrophorum as a complication of tonsill...

journal_title：European journal of pediatrics

authors： Beldman TF,Teunisse HA,Schouten TJ

更新日期：1997-11-01 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：: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 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：:Sweet syndrome, also referred to as acute febrile neutrophilic dermatosis, is characterized by tender, red inflammatory nodules or papules that occur in association with infection, malignancy, connective tissue disease, or following exposure to certain drugs. Although drug-induced Sweet syndrome is rare, granulocyte c...

journal_title：European journal of pediatrics

authors： Kim MJ,Choe YH

更新日期：2010-12-01 00:00:00

abstract：:The clinical presentation of combined pituitary hormone deficiency (CPHD) is variable. Some patients present with hypoglycemia during the neonatal period or during the first few years of life. Others present later in childhood with growth failure. We report on 7 patients with very late diagnosed severe hypopituitarism...

journal_title：European journal of pediatrics

authors： Boros E,Casimir M,Heinrichs C,Brachet C

更新日期：2020-01-01 00:00:00

abstract：:A large number of ventilation strategies are now available for the neonate. This review has focused on new information, that is, studies published since 2000 and the implication of their results for current clinical practice. Meta-analysis of randomised trials has demonstrated that assist control and synchronous inter...

journal_title：European journal of pediatrics

authors： Greenough A,Sharma A

更新日期：2007-10-01 00:00:00

abstract：:L-asparaginase is an effective antileukaemic drug and a potent inhibitor of hepatic protein synthesis. Its effect on lipid metabolism was studied in two cohorts of children with ALL, one of whom received L-asparaginase concomitantly with three other drugs (protocol BFM 79). In the second protocol (BFM 83) administrati...

journal_title：European journal of pediatrics

authors： Cremer P,Lakomek M,Beck W,Prindull G

更新日期：1988-01-01 00:00:00

abstract：UNLABELLED:Scorpion envenomation is a health problem in children in tropical and subtropical regions. The aim of this study was to evaluate demographic and clinical characteristics as well as outcomes in referred children to Assiut University Children Hospital during the year 2012 with a history of scorpion sting. The ...

journal_title：European journal of pediatrics

authors： Mohamad IL,Elsayh KI,Mohammad HA,Saad K,Zahran AM,Abdallah AM,Tawfeek MS,Monazea EM

更新日期：2014-06-01 00:00:00

abstract：:Low body mass index (BMI) z score is commonly used to define undernutrition, but faltering growth allows for a complementary dynamic assessment of nutritional status. We studied the prevalence of undernutrition and faltering growth at admission in the pediatric intensive care (PICU) setting and their impacts on outcom...

journal_title：European journal of pediatrics

authors： Valla FV,Berthiller J,Gaillard-Le-Roux B,Ford-Chessel C,Ginhoux T,Rooze S,Cour-Andlauer F,Meyer R,Javouhey E

更新日期：2018-03-01 00:00:00