3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

abstract：:We report two Chinese boys with Wiskott-Aldrich syndrome presenting with gastro-intestinal bleeding, eczema and recurrent infection. They had thrombocytopenia and the mean platelet volume was small. Serum IgG and IgA were elevated and lymphocyte proliferation in response to phytohaemagglutinin, concanavalin A and poke...

journal_title：European journal of pediatrics

authors： Lau YL,Jones BM,Low LC,Wong SN,Leung NK

更新日期：1992-09-01 00:00:00

abstract：UNLABELLED:Monitoring of therapy-related late effects after acute lymphoblastic leukaemia (ALL) therapy in childhood has become an increasingly important field in posttherapeutic patient surveillance. The usefulness of neurophysiological investigations (e.g. EEG, evoked potentials (EP)) as part of these attempts is con...

journal_title：European journal of pediatrics

authors： Ueberall MA,Skirl G,Strassburg HM,Wenzel D,Hertzberg H,Langer T,Meier W,Berger-Jones K,Huk WJ,Korinthenberg R,Beck JD

更新日期：1997-09-01 00:00:00

abstract：:Two patients developed clinical features of intracranial bleeding--which were confirmed by computerized axial tomograms--during their induction therapy for acute lymphocytic leukemia. Coagulation studies showed clotting abnormalities including severe hypofibrinogenemia. These findings most probably were related to the...

journal_title：European journal of pediatrics

authors： Urban C,Sager WD

更新日期：1981-11-01 00:00:00

abstract：:The peak flow velocities in the middle cerebral artery were continuously recorded by transcranial Doppler sonography in 29 children. Arterial blood pressure and heart rates were measured every minute. The values observed during orthostasis and physical exercise were compared to baseline values obtained in the supine p...

journal_title：European journal of pediatrics

authors： Bode H

更新日期：1991-08-01 00:00:00

abstract：:A 4-year-old boy is described with abdominal pain, emesis, weight loss, hypoproteinemia and edema. The diagnosis of Menetrier disease was made based on radiographic studies, gastroscopy and gastric biopsy. There was little response to medical treatment and enteral feedings were poorly tolerated for many weeks. Althoug...

journal_title：European journal of pediatrics

authors： Ling LJ,Hershenson MB,Young S,Traisman HS

更新日期：1986-02-01 00:00:00

abstract：UNLABELLED:Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with promi...

journal_title：European journal of pediatrics

authors： Schmidt B,Christen HJ,Herkenrath P,Benz-Bohm G,Müller-Berghaus J,Querfeld U

更新日期：1997-10-01 00:00:00

abstract：UNLABELLED:Over the past decade, concerns about bullying and its effects on school health have grown. However, few studies in Turkey have examined the prevalence of bullying in childhood and adolescence and its association with health problems. The current study aimed to examine the prevalence and manifestation of bull...

journal_title：European journal of pediatrics

authors： Arslan S,Hallett V,Akkas E,Akkas OA

更新日期：2012-10-01 00:00:00

abstract：:Two unique associations of disease with Escherichia coli O157:H7 are presented. These cases broaden the spectrum of disease associated with this organism which currently includes bloody and non-bloody diarrhoea, haemolytic-uraemic syndrome, and thrombotic thrombocytopenic purpura. ...

journal_title：European journal of pediatrics

authors： Cimolai N,Anderson JD,Bhanji NM,Chen L,Blair GK

更新日期：1990-01-01 00:00:00

abstract：:The aim of this study is to evaluate and compare mothers' and grandparents' feeding behaviours, the differences between the behaviours, the relationship between children's feeding problems and grandparents' feeding behaviours, as well as the relationship between grandparents' feeding behaviour and children's body mass...

journal_title：European journal of pediatrics

authors： Metbulut AP,Özmert EN,Teksam O,Yurdakök K

更新日期：2018-12-01 00:00:00

abstract：:Twenty-six children with cerebral palsy were examined with respect to structural asymmetry of the mouth. In 19 children there were clear cut correlations between symmetry/asymmetry of voluntary function and the oral findings. Patients with symmetrical patterns of movements had symmetrical dentition, while in those wit...

journal_title：European journal of pediatrics

authors： Haberfellner H,Richter M

更新日期：1980-12-01 00:00:00

abstract：UNLABELLED:Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessi...

journal_title：European journal of pediatrics

authors： Ozen S

更新日期：2003-07-01 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:This prospective clinical case-control study describes the effect of an inpatient multicomponent treatment programme for obese children and adolescents on their weight and psychological well being. We studied 38 patients and 38 controls on the waiting list, matched for age and gender, referred because of obe...

journal_title：European journal of pediatrics

authors： Braet C,Tanghe A,Bode PD,Franckx H,Winckel MV

更新日期：2003-06-01 00:00:00

abstract：:We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 c...

journal_title：European journal of pediatrics

authors： Chong LSH,Fitzgerald DA,Craig JC,Manera KE,Hanson CS,Celermajer D,Ayer J,Kasparian NA,Tong A

更新日期：2018-03-01 00:00:00

abstract：:Heart rate variability (HRV) is currently considered the most valuable non-invasive test to investigate the autonomic nervous system function, based on the fact that fast fluctuations might specifically reflect changes of sympathetic and vagal activity. An association between abnormal values of HRV and brain impairmen...

journal_title：European journal of pediatrics

authors： Bersani I,Piersigilli F,Gazzolo D,Campi F,Savarese I,Dotta A,Tamborrino PP,Auriti C,Di Mambro C

更新日期：2020-11-27 00:00:00

abstract：UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...

journal_title：European journal of pediatrics

authors： Cohen Engler A,Hadash A,Shehadeh N,Pillar G

更新日期：2012-04-01 00:00:00

abstract：:Twin-to-twin transfusion (TTT) is a complication of monochorionic twins that may result in high mortality and morbidity. To better understand pathophysiology in TTT and the consequences for affected fetuses and neonates, we describe the clinical features of 19 consecutive pregnancies complicated by TTT over 5 years. T...

journal_title：European journal of pediatrics

authors： Chiang MC,Lien R,Chao AS,Chou YH,En Chen YJ

更新日期：2003-02-01 00:00:00

abstract：:Children affected with acute myocarditis may progress rapidly into profound ventricular dysfunction and ventricular arrhythmias. The objective of this study is to assess the impact of ventricular arrhythmias on in-hospital mortality and the use of mechanical circulatory support in patients with myocarditis. Pediatric ...

journal_title：European journal of pediatrics

authors： Othman HF,Byrnes J,Elsamny E,Hamzah M

更新日期：2020-11-01 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：:Understanding which children are at increased risk for poor outcome with COVID-19 is critical. In this study, we link pediatric population-based data from the US Center for Disease Control and Prevention to COVID-19 hospitalization and in-hospital death. In 27,045 US children with confirmed COVID-19, we demonstrate th...

journal_title：European journal of pediatrics

authors： Moreira A,Chorath K,Rajasekaran K,Burmeister F,Ahmed M,Moreira A

更新日期：2021-01-20 00:00:00

abstract：UNLABELLED:We describe a rare case of acute acalculous cholecystitis (AC) due to Salmonella group D infection in a previously healthy child who developed gall bladder empyema and bacteraemia. Salmonella group D was recovered from blood culture, as well as cultures of stool, bile and gall bladder wall samples. The patie...

journal_title：European journal of pediatrics

authors： Lo WT,Wang CC,Chu ML

更新日期：2002-11-01 00:00:00

abstract：:Health-related quality of life (HRQOL) is an important indicator of the burden of illness in moderate-to-severe plaque psoriasis. This study evaluated self-reported generic HRQOL among pediatric patients with moderate-to-severe plaque psoriasis based on pooled baseline clinical trial data and compared them to four com...

journal_title：European journal of pediatrics

authors： Varni JW,Globe DR,Gandra SR,Harrison DJ,Hooper M,Baumgartner S

更新日期：2012-03-01 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：:A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected...

journal_title：European journal of pediatrics

authors： Böhles H,Heid H,Harms D,Schmid D,Fekl W

更新日期：1978-07-19 00:00:00

abstract：:Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...

journal_title：European journal of pediatrics

authors： von Stockhausen HB,Struve M

更新日期：1979-11-01 00:00:00

abstract：:Twelve preterm infants, median gestational age 31.5 weeks, were entered into a randomised, placebo-controlled trial of bronchodilator therapy. Their postnatal age was a median of 17.5 months and all suffered from recurrent respiratory symptoms. The infants received either inhaled placebo or 40 micrograms of ipratropiu...

journal_title：European journal of pediatrics

authors： Yuksel B,Greenough A

更新日期：1991-10-01 00:00:00

abstract：:We evaluated, both in toilet-trained and not-toilet-trained children, the impact of cleaning the genital area with plain water on the false positive rate at urine dipstick, and evaluated which factors could be associated to falsely positive findings. We prospectively enrolled 612 patients consecutively attending our n...

journal_title：European journal of pediatrics

authors： Marzuillo P,Guarino S,Furlan D,Pecoraro A,Pedullà M,Miraglia Del Giudice E,La Manna A

更新日期：2018-10-01 00:00:00

abstract：:Chronic lung disease of prematurity (CLD) remains a common cause of morbidity and mortality in preterm infants. Oxygen toxicity remains a major risk factor for the development of CLD and as a consequence the antioxidant status of CLD babies is a major focus of interest. In the present study, we determined whether asco...

journal_title：European journal of pediatrics

authors： Vyas JR,Currie A,Dunster C,Kelly FJ,Kotecha S

更新日期：2001-03-01 00:00:00

abstract：:Mucocutaneous bleeding is common in childhood and may be the result of primary hemostatic disorders such as vascular abnormalities, von Willebrand disease, thrombocytopenia, and platelet dysfunction. A detailed bleeding history and physical examination are essential to distinguish between normal and abnormal bleeding ...

journal_title：European journal of pediatrics

authors： van Ommen CH,Peters M

更新日期：2012-01-01 00:00:00

abstract：:Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate results of these investigations leading, under certain circumstances, to an...

journal_title：European journal of pediatrics

authors： Trijbels JM,Scholte HR,Ruitenbeek W,Sengers RC,Janssen AJ,Busch HF

更新日期：1993-03-01 00:00:00