Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

abstract：:Premature newborns are particularly vulnerable to iatrogenic hypothyroidism due to iodine exposure, usually through skin absorption of iodine-containing disinfectants or intravenous administration of iodinated contrast agents. We report here a case of severe iatrogenic hypothyroidism with goiter and cholestasis, disco...

journal_title：European journal of pediatrics

authors： Lombard F,Dalla-Vale F,Veyrac C,Plan O,Cambonie G,Picaud JC

更新日期：2009-04-01 00:00:00

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：:A 2-month-old infant was admitted to hospital because of recurrent vomiting for 1 week, progressive apathy, and focal seizures. The cranial MRI showed a noticeable result. ...

journal_title：European journal of pediatrics

authors： Larsen A,Martin C,Meyer S,Rohrer T,Papanagiotou P,van der Knaap M,Gortner L

更新日期：2012-06-01 00:00:00

abstract：: ...

journal_title：European journal of pediatrics

authors： Sasidharan R,Gupta N,Chawla D

更新日期：2019-01-01 00:00:00

abstract：:Recently a novel and non-invasive technique of lower leg length measurement (knemometry) was introduced. The method estimates the distance between heel and knee in the sitting child with an accuracy of 0.09 mm(SD). Two female patients with anorexia nervosa, aged 14:4 and 13:7 years, weighing minus 27 and minus 38% of ...

journal_title：European journal of pediatrics

authors： Hermanussen M,Geiger-Benoit K,Sippell WG

更新日期：1987-11-01 00:00:00

abstract：:Two girls aged 6 and 10 years treated with anticonvulsants developed nystagmus and ataxia. The peak plasma concentrations of phenytoin were 42.6 and 46.6 microgram/ml, respectively, compatible with phenytoin toxicity. The decline in plasma phenytoin levels did not fit first order kinetics, but followed Michaelis-Mente...

journal_title：European journal of pediatrics

authors： Abe K,Okano M,Sasaki H

更新日期：1980-10-01 00:00:00

abstract：:GB virus C (GBV-C) is a blood-borne flavivirus. The prevalence of GBV-C viremia among healthy adults is 0.5% to 4% and, to date, no disease has been definitely associated with GBV-C infection. We conducted a cross-sectional study to evaluate GBV-C viremia prevalence in a group of 327 healthy children with normal alani...

journal_title：European journal of pediatrics

authors： Claret G,Noguera A,González-Cuevas A,García-García JJ,Fortuny C,Muñoz-Almagro C

更新日期：2008-09-01 00:00:00

abstract：:Neurological manifestations and outcomes of children with the 2009 H1N1 virus infection have been reported in three American series and from smaller cohorts and case reports worldwide. Of the 83 children admitted between April 2009 and March 2010 with H1N1 virus infection to a tertiary children's hospital in a Europea...

journal_title：European journal of pediatrics

authors： Surana P,Tang S,McDougall M,Tong CY,Menson E,Lim M

更新日期：2011-08-01 00:00:00

abstract：:A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...

journal_title：European journal of pediatrics

authors： Tada K,Okuda K,Watanabe K,Iimura Y,Yamada S

更新日期：1979-02-08 00:00:00

abstract：:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...

journal_title：European journal of pediatrics

authors： Danks DM

更新日期：1991-01-01 00:00:00

abstract：:To elucidate the basis for the recurrent infections in patients with glycogen storage disease (GSD) Ib we tested polymorphonuclear leukocyte (PMN) function in one patient. Bactericidal capacity and phagocytosis-induced O2 consumption were reduced. Also, phorbol myristate acetate-stimulated superoxide production and gl...

journal_title：European journal of pediatrics

authors： Gahr M,Heyne K

更新日期：1983-09-01 00:00:00

abstract：:Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest...

journal_title：European journal of pediatrics

authors： Silberberg A,Robetto J,Grimaux G,Nucifora L,Moreno Villares JM

更新日期：2020-03-01 00:00:00

abstract：:Adverse drug reactions (ADRs) are a significant problem in children, affecting one in ten children in hospital. Within the community, one in 500 children will experience an adverse drug reaction each year. Pharmacovigilance has been useful in detecting suspected ADRs. However, most ADRs are unreported and often not su...

journal_title：European journal of pediatrics

authors： Choonara I

更新日期：2013-05-01 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 have evaluated 46 patients with Turner syndrome by clinical examination, M-mode and two-dimensional echocardiography, dynamic exercise testing and 24 h Holter monitoring. Twelve patients (26.1%) had mitral valve prolapse and 7 patients (15.2%) had isolated non stenotic bicuspid aortic valve. Aortic root dilation wa...

journal_title：European journal of pediatrics

authors： Bastianon V,Pasquino AM,Giglioni E,Bosco G,Tebaldi L,Cives C,Colloridi V

更新日期：1989-04-01 00:00:00

abstract：:An adapted cow's milk formula with or without supplemental taurine (480 mumol/l) was fed for 16 weeks to 20 low-birth-weight infants. In the 2nd and 16th weeks of life, respectively, the following parameters were determined: growth, sonography of heart and brain, ECG, EEG, neurological development and the taurine conc...

journal_title：European journal of pediatrics

authors： Michalk DV,Ringeisen R,Tittor F,Lauffer H,Deeg KH,Böhles HJ

更新日期：1988-04-01 00:00:00

abstract：UNLABELLED:Hypotension is a commonly diagnosed and treated complication of extremely low gestational age newborns (ELGAN), but enormous variation in diagnosis, management and clinical practice has been documented. We sought to evaluate practice regarding the management of hypotension in ELGANs and developed a web-based...

journal_title：European journal of pediatrics

authors： Stranak Z,Semberova J,Barrington K,O'Donnell C,Marlow N,Naulaers G,Dempsey E,HIP consortium.

更新日期：2014-06-01 00:00:00

abstract：:Cardiac imaging has had significant influence on the science and practice of pediatric cardiology. Especially the development and improvements made in non-invasive imaging techniques, like echocardiography and cardiac magnetic resonance imaging (MRI), have been extremely important. Technical advancements in the field ...

journal_title：European journal of pediatrics

authors： Mertens L,Ganame J,Eyskens B

更新日期：2008-01-01 00:00:00

abstract：UNLABELLED:Chronic lung disease (CLD) is an inflammatory disorder; in patients with other inflammatory disorders exhaled nitric oxide (NO) levels are elevated. The aim of this study was to test the hypothesis that prematurely born infants with CLD would have elevated exhaled NO levels compared to those without CLD and ...

journal_title：European journal of pediatrics

authors： Leipälä JA,Williams O,Sreekumar S,Cheeseman P,Rafferty GF,Hannam S,Milner A,Greenough A

更新日期：2004-09-01 00:00:00

abstract：:A case-control study was conducted to examine the association of beta-haemolytic non-group A streptococci and pharyngitis in a paediatric population (n = 502). No association could be found between disease and traditional Lancefield groups B, C, F, or G. When the analysis included the clustering of genetically related...

journal_title：European journal of pediatrics

authors： Cimolai N,Morrison BJ,MacCulloch L,Smith DF,Hlady J

更新日期：1991-09-01 00:00:00

abstract：UNLABELLED:Recent evidence has demonstrated the prenatal initiation of childhood obesity as epidemiological studies and animal studies have illustrated the effect of the intrauterine milieu for subsequent development of childhood obesity. This study investigates the relationship between severe childhood obesity and the...

journal_title：European journal of pediatrics

authors： Lausten-Thomsen U,Bille DS,Nässlund I,Folskov L,Larsen T,Holm JC

更新日期：2013-06-01 00:00:00

abstract：:Anthropometric indices (AI) have been known to be associated with age at menarche (AAM). The aim of this longitudinal study was to evaluate the changes in AI and its association with AAM in a community-based population in Iran. From among 10,192 women, we included 6818, aged ≥ 10 years, who were post-menarche at the t...

journal_title：European journal of pediatrics

authors： Farahmand M,Ramezani Tehrani F,Khalili D,Cheraghi L,Azizi F

更新日期：2020-09-01 00:00:00

abstract：:We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optim...

journal_title：European journal of pediatrics

authors： Tosson H,Rose SR,Gartner LA

更新日期：2012-03-01 00:00:00

abstract：:Asymptomatic excretion of group B streptococcus (GBS) in breast milk may be an underrecognized cause of neonatal and recurrent infection. We report the case of late-onset and recurrent infection in newborn twins resulting from ingestion of maternal breast milk infected with GBS. Genetic analysis of isolates is equally...

journal_title：European journal of pediatrics

authors： Gagneur A,Héry-Arnaud G,Croly-Labourdette S,Gremmo-Feger G,Vallet S,Sizun J,Quentin R,Tandé D

更新日期：2009-09-01 00:00:00

abstract：:Diagnosis of immunoglobulin deficiency with increased IgM (hyper-IgM syndrome) was made in three siblings (two girls and a boy) on the basis of history, physical findings, and laboratory data. The prominent clinical findings were recurrent viral and bacterial infections of the respiratory tract. The most severe infect...

journal_title：European journal of pediatrics

authors： Maródi L,Szabó I,Kalmár A

更新日期：1988-12-01 00:00:00

abstract：:We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a...

journal_title：European journal of pediatrics

authors： Hamers A,Jongbloet P,Peeters G,Fryns JP,Geraedts J

更新日期：1990-06-01 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：:Using a randomized double blind study design, the bronchodilating effect of 200 micrograms inhaled oxitropium bromide (OB) was compared with 200 micrograms inhaled fenoterol (F) after an interval of 20 min, in 20 asthmatic children aged 12.7 years (range: 4.9-15.1 years), suffering from mild bronchoconstriction (mean ...

journal_title：European journal of pediatrics

authors： Van Bever HP,Desager KN,Pauwels JH,Vermeire PA

更新日期：1994-08-01 00:00:00

abstract：:We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 109/L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urge...

journal_title：European journal of pediatrics

authors： Chan WK,Chang KO,Lau WH

更新日期：2017-08-01 00:00:00

abstract：:When a mother with tetralogy of Fallot has a conotruncal anomaly face, her child might have a 22q11.2 deletion and severe congenital heart disease. ...

journal_title：European journal of pediatrics

authors： Ito T,Okubo T,Sato H

更新日期：2002-03-01 00:00:00