Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.

abstract：:Eight patients with the syndrome of benign paroxysmal vertigo of childhood are presented. This symptom complex is characterized by attacks of vertigo in young children combined with nystagmus, ataxia and transiently decreased vestibular function, but without impaired consciousness. Diagnostic and follow-up studies rev...

journal_title：European journal of pediatrics

authors： Koehler B

更新日期：1980-08-01 00:00:00

abstract：:Piritramide is indicated for treatment of postoperative pain and analgosedation in the intensive care unit (ICU) setting. In an open prospective study the pharmacokinetics of piritramide were investigated in four groups: newborns (NB, age: 1-28 days) (n=8), infants 1 (IF1, age: 2-4 months) (n=7), infants 2 (IF2, age: ...

journal_title：European journal of pediatrics

authors： Müller C,Kremer W,Harlfinger S,Doroshyenko O,Jetter A,Hering F,Hünseler C,Roth B,Theisohn M

更新日期：2006-04-01 00:00:00

abstract：:A 17-year-old patient suffering from Crohn disease (CD) and liver cirrhosis is presented. At an advanced stage of the disease, he died of a concomitant urosepsis. Autopsy showed that the liver cirrhosis was caused by sclerosing cholangitis. This very rare complication of CD in adolescence is discussed. ...

journal_title：European journal of pediatrics

authors： Ramelli GP,Tönz O,Zimmermann A,Lentze MJ

更新日期：1991-06-01 00:00:00

abstract：UNLABELLED:Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth w...

journal_title：European journal of pediatrics

authors： Baumgartner MR,Rabier D,Nassogne MC,Dufier JL,Padovani JP,Kamoun P,Valle D,Saudubray JM

更新日期：2005-01-01 00:00:00

abstract：:We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis...

journal_title：European journal of pediatrics

authors： Verloes A,Moës D,Palumbo L,Elmer C,François A,Bricteux G

更新日期：1993-05-01 00:00:00

abstract：:The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...

journal_title：European journal of pediatrics

authors： Burström Å,Bratt EL,Frenckner B,Nisell M,Hanséus K,Rydberg A,Öjmyr-Joelsson M

更新日期：2017-07-01 00:00:00

abstract：:The fatty acid status of an unselected group of 84 Congolese children was determined by estimating the fatty acid composition of the plasma phospholipid (PL) and cholesterolester (CE) fractions using capillary gas chromatography. In comparison with North American and European children a wide range of values and low me...

journal_title：European journal of pediatrics

authors： Leichsenring M,Doehring-Schwerdtfeger E,Laryea MD,Diamouangana J,Bremer HJ

更新日期：1988-11-01 00:00:00

abstract：UNLABELLED:Neuroleptic malignant syndrome (NMS) is a rare but serious disorder caused by antipsychotic medication including phenothiazines. For sedative purposes, increasing doses of alimemazine were administered to a 4-year-old multiple handicapped girl, with cerebral damage of the basal ganglia. She developed extra-p...

journal_title：European journal of pediatrics

authors： van Maldegem BT,Smit LM,Touw DJ,Gemke RJ

更新日期：2002-05-01 00:00:00

abstract：:Brain hypoxia after cardiac arrest leads to damage of the neuronal cell membrane. Citicoline is necessary for the synthesis of cell membrane. We planned to assess the neuroprotective effect of citicoline in children after cardiac arrest. This randomized controlled trial was carried out at pediatric intensive care unit...

journal_title：European journal of pediatrics

authors： Salamah A,Mehrez M,Faheem A,El Amrousy D

更新日期：2020-11-10 00:00:00

abstract：:Mitochondrial disorders are a clinically and biochemically diverse group of disorders which may involve multiple organ systems. General anaesthesia (GA) poses a potential risk of decompensation in children with mitochondrial disorders, and there is little guidance for anaesthetists and other clinicians regarding the o...

journal_title：European journal of pediatrics

authors： Smith A,Dunne E,Mannion M,O'Connor C,Knerr I,Monavari AA,Hughes J,Eustace N,Crushell E

更新日期：2017-01-01 00:00:00

abstract：:Chronic lung disease of prematurity (CLD) is a common respiratory disorder of preterm infants. At autopsy, fibroblast proliferation, and components of the extracellular matrix, including collagen and fibronectin, are markedly increased in the lungs of infants who die from CLD. Examination of broncho-alveolar fluid sug...

journal_title：European journal of pediatrics

authors： Kotecha S

更新日期：1996-08-01 00:00:00

abstract：UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...

journal_title：European journal of pediatrics

authors： Fauroux B,Aynie V,Larroquet M,Boccon-Gibod L,Ducou le Pointe H,Tamalet A,Clément A

更新日期：2005-12-01 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：:Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...

journal_title：European journal of pediatrics

authors： Oulego-Erroz I,Gautreaux-Minaya S,Martinez-Sáenz de Jubera J,Naranjo-Vivas D,Fernéndez-Hernández S,Muñíz-Fontán M

更新日期：2011-09-01 00:00:00

abstract：UNLABELLED:Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone-insulin-like growth factor I axis. We report a boy with confirmed Williams-Beuren syndrome, who was found...

journal_title：European journal of pediatrics

authors： Kuijpers GM,De Vroede M,Knol HE,Jansen M

更新日期：1999-06-01 00:00:00

abstract：:Recent studies revealed that fluid overload is associated with higher mortality in critically ill children and adults. This study aimed to evaluate the association between fluid overload in the first 3 days of life and mortality in extremely low birth weight infants. This single-center retrospective cohort study inclu...

journal_title：European journal of pediatrics

authors： Matsushita FY,Krebs VLJ,Ferraro AA,de Carvalho WB

更新日期：2020-11-01 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：UNLABELLED:In a Swiss screening programme for detection of congenital adrenal hyperplasia (CAH), 27 of over 120,000 newborns examined from 1992 to 1994 were further studied because of persistingly high 17 alpha hydroxyprogesterone (17OHP). Out of 27, 11 were later confirmed to have CAH by specific gas chromatography of...

journal_title：European journal of pediatrics

authors： Lange-Kubini K,Zachmann M,Kempken B,Torresani T

更新日期：1996-11-01 00:00:00

abstract：UNLABELLED:This retrospective study attempts to assess the size and growth pattern of the pulmonary artery about 1 year after neonatal arterial switch operation for simple transposition of the great arteries. Sixty-seven patients underwent cardiac catheterization, including catheterization of the right and left pulmona...

journal_title：European journal of pediatrics

authors： Massin MM,Nitsch GB,Däbritz S,Seghaye MC,Messmer BJ,von Bernuth G

更新日期：1998-02-01 00:00:00

abstract：:Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We repo...

journal_title：European journal of pediatrics

authors： Papadopoulos I,Bountouvi E,Attilakos A,Gole E,Dinopoulos A,Peppa M,Nikolaidou P,Papadopoulou A

更新日期：2019-03-01 00:00:00

abstract：:Cardiac function is impaired in adults or children with hypothyroidism and it can be reversed by levothyroxine (L-T(4)) substitution therapy. However, only a few studies are available on left and right ventricular function in neonates with congenital hypothyroidism (CH), most of which were performed with standard echo...

journal_title：European journal of pediatrics

authors： Mao S,Wang Y,Jiang G,Zhao Z

更新日期：2007-12-01 00:00:00

abstract：:This study gives, for the first time, an estimate of the incidence and the cost of rotavirus infection in day care centers in Lyon, France. ...

journal_title：European journal of pediatrics

authors： Floret D,Lina B,Pinchinat S,Billaud G,Aït-Belghiti F,Largeron N,Bellemin B,Trang CN,Fau C,Gaspard C,Mamoux V,Marcelon L

更新日期：2006-12-01 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：:The glycogen storage disorders (GSD)-I, -III, -VI and -VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol l...

journal_title：European journal of pediatrics

authors： Schmitz G,Hohage H,Ullrich K

更新日期：1993-01-01 00:00:00

abstract：UNLABELLED:Repeated invasive procedures occur routinely in neonates who require intensive care, causing pain at a time when it is developmentally unexpected. Multiple lines of evidence suggest that repeated and prolonged pain exposure alters their subsequent pain processing, long-term development, and behaviour. Primar...

journal_title：European journal of pediatrics

authors： Gitto E,Pellegrino S,Manfrida M,Aversa S,Trimarchi G,Barberi I,Reiter RJ

更新日期：2012-06-01 00:00:00

abstract：:From time to time, paediatricians are confronted with children who might suffer from a primary immunodeficiency disease. For practical purposes, these children can be divided into four main clinical categories: (1) a relatively large group of children with recurrent ear-nose and throat and lower respiratory tract infe...

journal_title：European journal of pediatrics

authors： de Vries E,Noordzij JG,Kuijpers TW,van Dongen JJ

更新日期：2001-10-01 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：:We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...

journal_title：European journal of pediatrics

authors： Royce PM,Steinmann B,Vogel A,Steinhorst U,Kohlschuetter A

更新日期：1990-04-01 00:00:00

abstract：:Fourteen children aged 9 months-4 years with moderate to severe mental retardation and varying neurologic lesions were referred for severe and continuous nocturnal sleep disturbances and very abnormal day/night schedules. All children had previously been given hypnotic medications and behavioral treatments which had l...

journal_title：European journal of pediatrics

authors： Guilleminault C,McCann CC,Quera-Salva M,Cetel M

更新日期：1993-09-01 00:00:00

abstract：:Inflammatory bowel disease (IBD) is a cause of chronic intestinal inflammation in children. In a subset of patients affected by IBD, arthropathy may be the leading presenting sign. In the past years, remarkable advances in gastrointestinal endoscopy techniques have been achieved; recently, the development of capsule e...

journal_title：European journal of pediatrics

authors： Taddio A,Simonini G,Lionetti P,Lepore L,Martelossi S,Ventura A,Cimaz R

更新日期：2011-10-01 00:00:00