A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders.

abstract：:Maternal morbidity is associated with cesarean deliveries. However, new evidence suggests that short- and long-term neonatal morbidity is also associated. This includes respiratory morbidity with conflicting results. To determine whether mode of delivery has an impact on the long-term risk for respiratory morbidity in...

journal_title：European journal of pediatrics

authors： Baumfeld Y,Walfisch A,Wainstock T,Segal I,Sergienko R,Landau D,Sheiner E

更新日期：2018-11-01 00:00:00

abstract：:A 7-year-old girl was admitted with a severe abdominal pain. Abdominal ultrasound and CT revealed a large splenic infarction, leading to the diagnosis of chronic myeloid leukemia. ...

journal_title：European journal of pediatrics

authors： Drummond D,Lenoir M,Petit AY

更新日期：2012-07-01 00:00:00

abstract：:The results of 24 h oesophageal pH monitoring, performed in 129 infants aged 6-10 weeks, were compared to those in the same patients after shorter periods (3, 6, 9 and 12 h). In the investigated population there was no significant difference between the reflux index (percentage of time with a pH < 4.0) after 12 or 24 ...

journal_title：European journal of pediatrics

authors： Vandenplas Y,Casteels A,Naert M,Derde MP,Blecker U

更新日期：1994-02-01 00:00:00

abstract：UNLABELLED:To monitor infant care practices associated with risks for sudden infant death, 400 Belgian families with infants less than 6 months old were questioned by 21 paediatricians during routine visits to local paediatric practices and well baby services (11 in urban centres, 10 in rural areas). Because of incompl...

journal_title：European journal of pediatrics

authors： Kahn A,Bauche P,Groswasser J,Dramaix M,Scaillet S,Working Group, Groupe Belge de Pediatres Francophones.

更新日期：2001-08-01 00:00:00

abstract：UNLABELLED:Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the ...

journal_title：European journal of pediatrics

authors： Bennett LC,Kraemer R,Liechti-Gallati S

更新日期：2000-01-01 00:00:00

abstract：:Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been critically unwell. In this systematic review, we aimed to identify and describe which underlying comorbidities may be associated with severe SARS-CoV-2 disease and de...

journal_title：European journal of pediatrics

authors： Williams N,Radia T,Harman K,Agrawal P,Cook J,Gupta A

更新日期：2020-09-10 00:00:00

abstract：UNLABELLED:Essential fatty acid deficiency is well known in cystic fibrosis patients, but its pathogenesis remains unclear. It might be related to protein-energy malnutrition which is a common feature of cystic fibrosis or to some specific defects in fatty acid metabolism. To avoid the deleterious effects of protein-en...

journal_title：European journal of pediatrics

authors： Roulet M,Frascarolo P,Rappaz I,Pilet M

更新日期：1997-12-01 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：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：:Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female mo...

journal_title：European journal of pediatrics

authors： Fencl F,Malina M,Stará V,Zieg J,Mixová D,Seeman T,Bláhová K

更新日期：2012-01-01 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:The fatty acid composition of human breast milk was determined longitudinally after term and preterm delivery by high resolution gas liquid chromatography. Milk samples were obtained at days 5, 10, 20 and 30 after term (n = 38) or preterm (n = 19) delivery. The saturated fatty acids C10:0 and C12:0 and the p...

journal_title：European journal of pediatrics

authors： Genzel-Boroviczény O,Wahle J,Koletzko B

更新日期：1997-02-01 00:00:00

abstract：:Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of cases of GSD IX are ...

journal_title：European journal of pediatrics

authors： Albash B,Imtiaz F,Al-Zaidan H,Al-Manea H,Banemai M,Allam R,Al-Suheel A,Al-Owain M

更新日期：2014-05-01 00:00:00

abstract：UNLABELLED:A postal survey of 31 European centres was conducted to document current practices regarding screening and management of hepatitis C virus (HCV)-infected pregnant women and their children. Antenatal HCV prevalence was low. Universal antenatal screening programmes were in place in ten centres, selective scree...

journal_title：European journal of pediatrics

authors： Pembrey L,Newell ML,Tovo PA

更新日期：1999-10-01 00:00:00

abstract：UNLABELLED:Coagulase-negative staphylococci are the most common cause of late-onset sepsis in premature neonates. The optimal approach in persistent coagulase-negative staphylococcal bacteremia, despite adequate treatment with glycopeptides, is not well established. A retrospective study was conducted on preterm neonat...

journal_title：European journal of pediatrics

authors： Rodriguez-Guerineau L,Salvia-Roigés MD,León-Lozano M,Rodríguez-Miguélez JM,Figueras-Aloy J

更新日期：2013-05-01 00:00:00

abstract：:Nineteen (12 male, 7 female) children, who have received craniospinal irradiation for the treatment of a brain tumour distant from the hypothalamic-pituitary axis, resulting in growth hormone (GH) deficiency (CS-PRGHD), have been treated with GH. Eight have completed growth. Comparison has been made with the growth of...

journal_title：European journal of pediatrics

authors： Clayton PE,Shalet SM,Price DA

更新日期：1988-08-01 00:00:00

abstract：:The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...

journal_title：European journal of pediatrics

authors： Alexandropoulou O,Kossiva L,Haliotis F,Giannaki M,Tsolia M,Panagiotou IP,Karavanaki K

更新日期：2013-06-01 00:00:00

abstract：UNLABELLED:Paediatric care places great demands on interpersonal communication skills, especially as regards the handling of psychosocial issues. Recent shifts in paediatric morbidity and increases in patient empowerment furthermore emphasize the need for continuing paediatric education in communication skills. It is, ...

journal_title：European journal of pediatrics

authors： van Dulmen AM,Holl RA

更新日期：2000-07-01 00:00:00

abstract：UNLABELLED:Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two ma...

journal_title：European journal of pediatrics

authors： Kerbl R,Litscher H,Grubbauer HM,Reiterer F,Zobel G,Trop M,Urlesberger B,Eber E,Kurz R

更新日期：1996-11-01 00:00:00

abstract：UNLABELLED:This study compared the foot morphology of Spanish schoolchildren based on their body mass index and age and analyzed whether body mass index affects the child's foot development at primary school. Cross-sectional study of 1,032 schoolchildren (497 boys and 535 girls), 6-12 years old. Height and weight were ...

journal_title：European journal of pediatrics

authors： Jiménez-Ormeño E,Aguado X,Delgado-Abellán L,Mecerreyes L,Alegre LM

更新日期：2013-05-01 00:00:00

abstract：:To investigate the changes in the 1 alpha,25-dihydroxyvitamin D [1,25(OH)2D] level and the role of parathyroid hormone (PTH) and calcitonin (CT) during the early neonatal periods, we measured 1,25(OH)2D, 25-hydroxyvitamin D [25(OH)D], PTH specific for mid-regions (mPTH) and urinary cAMP (UcAMP) to evaluate the renal t...

journal_title：European journal of pediatrics

authors： Nishioka T,Yasuda T,Niimi H,Nakajima H

更新日期：1988-02-01 00:00:00

abstract：:To access outcome following hypoxic ischemic encephalopathy (HIE), survivors without cerebral palsy were invited for formal developmental assessment. Children aged ≥ 42 months were assessed using the NEPSY-2, Movement Assessment Battery for Children 2 (Movement ABC-2), Behavior Rating Inventory of Executive Function, ...

journal_title：European journal of pediatrics

authors： Hayes BC,Doherty E,Grehan A,Madigan C,McGarvey C,Mulvany S,Matthews TG,King MD

更新日期：2018-01-01 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：: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 female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications. ...

journal_title：European journal of pediatrics

authors： Kunze J,Heyne K,Wiedemann HR

更新日期：1979-06-28 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：UNLABELLED:Our aim was to determine whether the chest radiograph appearance at 7 days predicted chronic lung disease development (oxygen dependency at 36 weeks post-menstrual age) or death before discharge and if it was a better predictor than readily available clinical data. Two consecutive studies were performed. In ...

journal_title：European journal of pediatrics

authors： Greenough A,Thomas M,Dimitriou G,Williams O,Johnson A,Limb E,Peacock J,Marlow N,Calvert S

更新日期：2004-01-01 00:00:00

abstract：UNLABELLED:To assess the efficacy of a serotonin re-uptake inhibitor, sertraline hydrochloride, in preventing recurrent neurocardiogenic syncope, we studied 15 patients (10 female; mean age 12.9 +/- 2 years) with positive head-upright tilt test and resistant to standard pharmacotherapy, atenolol or disopyramide. The pa...

journal_title：European journal of pediatrics

authors： Lenk M,Alehan D,Ozme S,Celiker A,Ozer S

更新日期：1997-10-01 00:00:00

abstract：:The updated Dutch guidelines on Neonatal Resuscitation assimilate the latest evidence in neonatal resuscitation. Important changes with regard to the 2004 guidelines and controversial issues concerning neonatal resuscitation are reviewed, and recommendations for daily practice are provided and argued in the context of...

journal_title：European journal of pediatrics

authors： van den Dungen FA,van Veenendaal MB,Mulder AL

更新日期：2010-05-01 00:00:00

abstract：:Seven cases of phalangeal microgeodic syndrome in childhood are reported. Reviewing the literature, we have found a total of thirty Japanese cases, including the cases of our own. On the other hand, only ten cases have been reported outside Japan. The mean age of onset of the Japanese was six and a half years, which i...

journal_title：European journal of pediatrics

authors： Kaibara N,Masuda S,Katsuki I,Hotokebuchi T,Shibata K,Sada H,Eguchi M

更新日期：1981-03-01 00:00:00