Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

abstract：:Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operati...

journal_title：European journal of pediatrics

authors： Kuhnle U,Bullinger M,Schwarz HP

更新日期：1995-09-01 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：UNLABELLED:In 135 women and 85 men who initially presented for tall stature, the outcome in treated (56 women and 33 men; cases) and untreated (controls) was investigated. At the time of height prediction, cases were significantly taller (P < or = 0.03) than the controls, they had higher target heights (P < 0.001) and ...

journal_title：European journal of pediatrics

authors： Binder G,Grauer ML,Wehner AV,Wehner F,Ranke MB

更新日期：1997-12-01 00:00:00

abstract：UNLABELLED:Establishing enteral feeding in the very low birth weight infant as soon as possible after birth has been shown to promote growth and reduce the need for intravenous lines. Human milk can be administered either as a continuous infusion or as intermittent boluses. The aim of this study was to investigate the ...

journal_title：European journal of pediatrics

authors： Rojahn A,Lindgren CG

更新日期：2001-10-01 00:00:00

abstract：:Lower respiratory tract infections (LRTI) caused by adenovirus can be severe with resultant chronic pulmonary sequelae. More than 50 serotypes have been recognized; however, the exact association of serotype with clinical phenotype is still unclear. There have been no reports on the adenovirus serotype pattern in Hong...

journal_title：European journal of pediatrics

authors： Chau SK,Lee SL,Peiris MJ,Chan KH,Chan E,Wong W,Chiu SS

更新日期：2014-03-01 00:00:00

abstract：:In a German pediatric oncology unit, the attending physicians diagnosed 27 cases of Clostridium difficile-associated disease (CDI) from January 01, 2010 to October 31, 2013. This refers to a CDI incidence density of 2.0/1000 inpatient days. According to the hospital hygiene standard, symptomatic patients with CDI were...

journal_title：European journal of pediatrics

authors： Simon A,Mock M,Graf N,von Müller L

更新日期：2018-03-01 00:00:00

abstract：UNLABELLED:Papillomas of the genital region are rare benign tumours causing sanguineous vaginal discharge in prepubertal girls. We report on a papilloma of the cervix in a 2-year-old girl. We characterize the tumour immunohistochemically and give a brief review about the current literature. CONCLUSION:Genital tract pa...

journal_title：European journal of pediatrics

authors： Schmedding A,Zense M,Fuchs J,Glüer S

更新日期：1997-04-01 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：: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

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：UNLABELLED:A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. The enzymatic activity of some of the identifi...

journal_title：European journal of pediatrics

authors： Michigami T,Uchihashi T,Suzuki A,Tachikawa K,Nakajima S,Ozono K

更新日期：2005-05-01 00:00:00

abstract：:The study was planned to determine identifiable starting points of a trend towards obesity and the influence of variables in preschool children aged 0 to 6 years. In this longitudinal follow-up study, 102 children were enrolled. Anthropometric measurements such as weight-height centiles (specific for gender and age gr...

journal_title：European journal of pediatrics

authors： Yücel O,Kinik ST,Aka S

更新日期：2011-06-01 00:00:00

abstract：:In recent years, a more stable AVP surrogate, called copeptin, has been used as an adjuvant diagnostic tool for dysnatremia in adults and appears to be promising even in the pediatric age. The aim of this study is to present the distribution of plasma copeptin in a large pediatric cohort and to observe the influence o...

journal_title：European journal of pediatrics

authors： Tuli G,Munarin J,Tessaris D,Einaudi S,Matarazzo P,de Sanctis L

更新日期：2021-01-01 00:00:00

abstract：:In the serum of two infant sisters with a congenital renal salt-losing syndrome, Na was rather low and K considerably increased. Even with Na levels of 126 mval/1, sodium was excreted in the urine. Creatinine and hippurate clearances were normal. Primary disturbances of the steroid metabolism were not detectable; plas...

journal_title：European journal of pediatrics

authors： Bierich JR,Schmidt U

更新日期：1976-01-02 00:00:00

abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...

journal_title：European journal of pediatrics

authors： Tazawa Y,Yamada M,Nakagawa M,Konno T,Tada K

更新日期：1985-05-01 00:00:00

abstract：:The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...

journal_title：European journal of pediatrics

authors： Güttler F,Guldberg P

更新日期：1996-07-01 00:00:00

abstract：UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...

journal_title：European journal of pediatrics

authors： Ohta T,Nishiyama S,Nakamura T,Saku K,Maung KK,Matsuda I

更新日期：1998-04-01 00:00:00

abstract：:Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (αFP) dosage is the cornerstone...

journal_title：European journal of pediatrics

authors： Mussa A,Ferrero GB,Ceoloni B,Basso E,Chiesa N,De Crescenzo A,Pepe E,Silengo M,de Sanctis L

更新日期：2011-11-01 00:00:00

abstract：:The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tub...

journal_title：European journal of pediatrics

authors： Poskanzer SA,Hobensack VL,Ciciora SL,Santoro SL

更新日期：2020-06-01 00:00:00

abstract：:Human metapneumovirus (hMPV) is a recently discovered pathogen in respiratory tract infection. The published literature suggests milder illness severity in hMPV compared with respiratory syncytial virus (RSV) infection. In two consecutive seasons, 637 nasopharyngeal aspirates from pediatric patients were tested by hMP...

journal_title：European journal of pediatrics

authors： Wilkesmann A,Schildgen O,Eis-Hübinger AM,Geikowski T,Glatzel T,Lentze MJ,Bode U,Simon A

更新日期：2006-07-01 00:00:00

abstract：:Growth hormone (GH) secretion was determined by evaluating ultradian GH profiles for 12 h and GH responses to insulin stimulated hypoglycaemia (ITT) in 28 stunted boys with beta-thalassaemia major aged 15.2-17.4 years, who presented with pubertal failure (FP). Healthy non thalassaemia prepubertal boys (n = 10) aged 7....

journal_title：European journal of pediatrics

authors： Chatterjee R,Katz M,Cox T,Bantock H

更新日期：1993-09-01 00:00:00

abstract：:Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diag...

journal_title：European journal of pediatrics

authors： Aytekin C,Dogu F,Tanir G,Guloglu D,Santisteban I,Hershfield MS,Ikinciogullari A

更新日期：2010-03-01 00:00:00

abstract：UNLABELLED:The 6-min walk test is a simple and accurate method to measure functional exercise capacity in children. We provide smooth reference curves for the modified 6-min walk test in 696 healthy children and adolescents aged 4-19 years, enabling calculation of sex-, age-, and height-specific Z-scores. CONCLUSION:T...

journal_title：European journal of pediatrics

authors： Saraff V,Schneider J,Colleselli V,Ruepp M,Rauchenzauner M,Neururer S,Geiger R,Högler W

更新日期：2015-06-01 00:00:00

abstract：UNLABELLED:The true burden of influenza in children is difficult to assess and is probably underestimated as clinical signs are usually nonspecific, and formal viral identification is rarely searched. In this study, we compare the clinical features of infections related to the new H1N1/09 influenza virus with infection...

journal_title：European journal of pediatrics

authors： Crisinel PA,Barazzone C,Kaiser L,L'Huillier AG,Taguebue J,Wagner N,Delcò C,Siegrist CA,Posfay-Barbe KM,H1N1 Pediatric Epidemiology Study Group.

更新日期：2012-01-01 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：LARYNGOSCOPE BURNS IN NEONATAL INTUBATION:Following burns during neonatal intubation, we mounted an in vitro study of laryngoscopes to determine the temperatures reached during clinical use. The temperature of 10 different bulb laryngoscopes heads and two fibre optic heads were measured with a thermocouple, once opened...

journal_title：European journal of pediatrics

authors： Ryan E,O Neill P,Brabazon D,Murphy JFA

更新日期：2019-07-01 00:00:00

abstract：:We discuss the unusual presentation of acquired toxoplasmosis in a girl with severe and transient hemidystonia as a unique symptom. Serum titres of anti-toxoplasma antibodies increased whereas no specific antibody response in the CSF was observed. While symptomatic drugs were inefficacious, specific anti-toxoplasmosis...

journal_title：European journal of pediatrics

authors： Micheli R,Perini A,Duse M

更新日期：1994-10-01 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 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：:Primary hyperparathyroidism is a rare endocrine disease in children and young adults. The early detection and treatment of primary hyperparathyroidism led to a marked decrease in classical bone and renal manifestations of the disease. Osteitis fibrosa cystica and brown tumors have become extremely rare clinical entiti...

journal_title：European journal of pediatrics

authors： Atabek ME,Pirgon O,Sert A,Esen HH

更新日期：2008-01-01 00:00:00