The Dubowitz syndrome.

abstract：UNLABELLED:Concentrations of galactose (Gal) in plasma and galactose metabolites in red blood cells (RBC) were determined in 18 normal neonates and 249 others with hypergalactosaemia according to the Paigen method. Normal neonatal values for plasma Gal, RBC galactose-1-phosphate (Gal-1-P), RBC uridine diphosphate gluco...

journal_title：European journal of pediatrics

authors： Mizoguchi N,Ono H,Eguchi T,Sakura N

更新日期：2000-11-01 00:00:00

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：: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：:Diagnostic tools for the management of acute osteomyelitis (OM) and septic arthritis (SA) have improved over the last decade. To investigate the influence and availability of magnetic resonance imaging (MRI) and nucleic acid testing (NAT), a retrospective cohort study was done. Patients admitted with acute OM or SA be...

journal_title：European journal of pediatrics

authors： Manz N,Krieg AH,Heininger U,Ritz N

更新日期：2018-07-01 00:00:00

abstract：UNLABELLED:Although Shiga toxin-producing Escherichia coli (STEC) has been isolated in Brazil, severe manifestations of the infection, such as haemorrhagic colitis and haemolytic-uraemic syndrome, are extremely rare in our population. Enteropathogenic Escherichia coli (EPEC) is the main aetiological agent of acute infa...

journal_title：European journal of pediatrics

authors： Palmeira P,Carbonare SB,Amaral JA,Tino-De-Franco M,Carneiro-Sampaio MM

更新日期：2005-01-01 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：:High food quality, together with adequate macro- and micronutrient intake in pregnancy, is crucial for the health status of the mother and child. Recent findings suggest that it could also be beneficial or harmful in the context of the well-being of the whole future population. According to the developmental origins o...

journal_title：European journal of pediatrics

authors： Danielewicz H,Myszczyszyn G,Dębińska A,Myszkal A,Boznański A,Hirnle L

更新日期：2017-12-01 00:00:00

abstract：:Strategies for the treatment of cystathionine beta-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing the load on the affected pathway with a low methionine diet and supplementing the diet with cysteine; and (3...

journal_title：European journal of pediatrics

authors： Walter JH,Wraith JE,White FJ,Bridge C,Till J

更新日期：1998-04-01 00:00:00

abstract：:Tonsillectomy is one of the commonest ENT paediatric procedures. Recovery is best achieved at home, and cost-effectiveness of the day case pathway is significant in tonsillectomy. This project scrutinised the local practice regarding the effectiveness of day case pathway in paediatric tonsillectomy in a large regional...

journal_title：European journal of pediatrics

authors： Atfeh MS,Richardson-May J,Rainsbury J

更新日期：2018-11-01 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：:Spontaneous pneumomediastinum is uncommon in paediatric practice. We describe two cases of spontaneous pneumomediastinum in a child and an adolescent with anorexia nervosa. Thorough investigation failed to reveal any underlying cause for secondary pneumomediastinum. Pneumomediastinum in anorexia nervosa can be caused ...

journal_title：European journal of pediatrics

authors： van Veelen I,Hogeman PH,van Elburg A,Nielsen-Abbring FW,Heggelman BG,Mahieu HF

更新日期：2008-02-01 00:00:00

abstract：:Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...

journal_title：European journal of pediatrics

authors： Leung AK,Hoo JJ

更新日期：1986-02-01 00:00:00

abstract：UNLABELLED:Intravenous immunoglobulin (IVIG) is currently the standard treatment for Kawasaki disease (KD). Although IVIG therapy is generally well tolerated, several minor adverse reactions have been reported. We report a patient with KD treated with IVIG, who developed a cutaneous reaction in the convalescent phase (...

journal_title：European journal of pediatrics

authors： Takeuchi M,Oda Y,Suzuki I

更新日期：2013-03-01 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：UNLABELLED:Congenital cardiovascular defects, commonly affecting the aortic valve or the aortic arch (50% to 70%), are seen in ca. 17%-44% of patients with Ullrich-Turner syndrome (UTS). However, there are only 36 case reports worldwide on the coincidental finding of partial anomalous pulmonary vein connection (PAPVC) ...

journal_title：European journal of pediatrics

authors： Bechtold SM,Dalla Pozza R,Becker A,Meidert A,Döhlemann C,Schwarz HP

更新日期：2004-03-01 00:00:00

abstract：:This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/...

journal_title：European journal of pediatrics

authors： Löwik MM,Groenen PJ,Levtchenko EN,Monnens LA,van den Heuvel LP

更新日期：2009-11-01 00:00:00

abstract：:A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of a...

journal_title：European journal of pediatrics

authors： Søvik O,Lie SO,Fluge G,Van Hoof F

更新日期：1980-12-01 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

abstract：:A case of painful bilateral hip effusions resolving spontaneously in the diuretic phase of steroid responsive nephrotic syndrome in a 6-year-old girl is reported. ...

journal_title：European journal of pediatrics

authors： Gupta S,Nirmal JM,Lennox CM

更新日期：1993-02-01 00:00:00

abstract：:The clinical spectrum of the perinatal COVID-19 and prospective data on neonatal outcomes remains largely unexplored. Most of the existing literature is in the form of case series or single-centre experience. In this review, we aim to summarize available literature on the clinical spectrum of COVID-19 in neonates and ...

journal_title：European journal of pediatrics

authors： Vardhelli V,Pandita A,Pillai A,Badatya SK

更新日期：2020-11-12 00:00:00

abstract：:The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes o...

journal_title：European journal of pediatrics

authors： Cacciari E,Pirazzoli P,Gualandi S,Baroncini C,Baldazzi L,Trevisani B,Capelli M,Zucchini S,Balsamo A,Cicognani A

更新日期：1994-09-01 00:00:00

abstract：:The aim of this study was to assess the influence of active and passive maternal smoking on placenta total oxidant/antioxidant status in term infants. The levels of cord blood total antioxidant capacity (TAC), total oxidant status (TOS), and oxidative stress index (OSI) were measured in samples of fetal placental tiss...

journal_title：European journal of pediatrics

authors： Aycicek A,Varma M,Ahmet K,Abdurrahim K,Erel O

更新日期：2011-05-01 00:00:00

abstract：:A 10-year-old boy with chyluria due to a congenital fistulous communication between the lymphatic system and the bladder is described. Chyluria can be parasitic or non-parasitic. Many causes of non-parasitic chyluria have been reported. Lymphography is the preoperative imaging procedure of choice since it demonstrates...

journal_title：European journal of pediatrics

authors： Stalens JP,Falk M,Howmann-Giles R,Roy LP

更新日期：1992-01-01 00:00:00

abstract：UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...

journal_title：European journal of pediatrics

authors： Musebeck J,Mohnike K,Beye P,Tönnies H,Neitzel H,Schnabel D,Grüters A,Wieacker PF,Stumm M

更新日期：2001-09-01 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：:Serum immunoreactive erythropoietin (siEPO) was determined in cord serum from neonates (n = 97, gestational age 36-43 weeks), in healthy children from birth to adolescence (n = 260) and in children with haematological (n = 30), renal (n = 10) and congenital heart diseases (n = 70). In healthy children siEPO levels dec...

journal_title：European journal of pediatrics

authors： Eckardt KU,Hartmann W,Vetter U,Pohlandt F,Burghardt R,Kurtz A

更新日期：1990-04-01 00:00:00

abstract：UNLABELLED:A 9-year-old boy lost almost all his small bowel after an acute volvulus due to a congenital, but previously unsuspected malrotation. Survival using total parenteral nutrition is possible in these cases, but the medical burden is heavy. Small intestinal transplantation was performed for the first time in the...

journal_title：European journal of pediatrics

authors： Severijnen R,Hulstijn-Dirkmaat I,Gordijn B,Bakker L,Bongaerts G

更新日期：2003-11-01 00:00:00

abstract：:Total serum LDH activity and isoenzyme distribution were studied in children with neuroblastoma at the time of hospital admission. The total LDH was determined in 26 cases, and 20 (77%) of them showed elevation of its activity. On the other hand, in 9 of these 26 cases, the isoenzyme distribution was determined along ...

journal_title：European journal of pediatrics

authors： Kinumaki H,Takeuchi H,Ohmi K

更新日期：1976-09-01 00:00:00

abstract：UNLABELLED:A retrospective analysis was performed of the records of 133 patients with extrahepatic biliary atresia (EHBA) who had undergone a Kasai portoenterostomy. The patients were divided into a non-transplantation group who survived but did not receive liver transplantation after the procedure and a failure group ...

journal_title：European journal of pediatrics

authors： Jiang CB,Lee HC,Yeung CY,Sheu JC,Chang PY,Wang NL,Yeh CY

更新日期：2003-09-01 00:00:00

abstract：:Newborns are exposed to mechanical and oxidative stress during labor and to relative hyperoxia thereafter during the course of adaptation to the extrauterine conditions. Part of the adaptation mechanism is the rapid degradation of fetal hemoglobin and the oxidation of its heme moiety by heme oxygenases (HOs). Heme oxy...

journal_title：European journal of pediatrics

authors： Maróti Z,Katona M,Orvos H,Németh I,Farkas I,Túri S

更新日期：2007-10-01 00:00:00