Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs--a "new" syndrome?

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：: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：UNLABELLED:Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular gen...

journal_title：European journal of pediatrics

authors： Oláh AV,Szabó GP,Varga J,Balogh L,Csábi G,Csákváry V,Erwa W,Balogh I

更新日期：2013-05-01 00:00:00

abstract：:The objective of this study was to investigate the clinical applicability of pulse oximetry to measure haemoglobin oxygen saturation and heart rate in the first 20 min of life and to analyse the effect of pre- or post-ductal (hand, respectively, foot) fixation of sensors on oxygen saturation. Measurements were carried...

journal_title：European journal of pediatrics

authors： Meier-Stauss P,Bucher HU,Hürlimann R,König V,Huch R

更新日期：1990-09-01 00:00:00

abstract：UNLABELLED:Our aim was to determine whether the chest radiograph appearance at 7 days predicted chronic lung disease development (oxygen dependency at 36 weeks post-menstrual age) or death before discharge and if it was a better predictor than readily available clinical data. Two consecutive studies were performed. In ...

journal_title：European journal of pediatrics

authors： Greenough A,Thomas M,Dimitriou G,Williams O,Johnson A,Limb E,Peacock J,Marlow N,Calvert S

更新日期：2004-01-01 00:00:00

abstract：UNLABELLED:In order to determine the response to high-frequency oscillatory ventilation (HFOV), used as an "early rescue" therapy, in a cohort of paediatric patients with acute respiratory distress syndrome (ARDS), a prospective clinical study was performed in a tertiary care paediatric intensive care unit. Ten consecu...

journal_title：European journal of pediatrics

authors： Ben Jaballah N,Mnif K,Bouziri A,Kazdaghli K,Belhadj S,Zouari B

更新日期：2005-01-01 00:00:00

abstract：:Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...

journal_title：European journal of pediatrics

authors： Shimizu T,Yamashiro Y,Yabuta K

更新日期：1992-07-01 00:00:00

abstract：:WHO-Europe's goal is to eliminate measles and rubella by 2010 which will require a coverage rate of 95% for both MMR-vaccine doses. Belgian recommendations include a first MMR vaccine at 12 months and a second at 10-12 years of age. To survey MMR vaccination coverage, EPI two-stage random cluster samples of 1,500 todd...

journal_title：European journal of pediatrics

authors： Vandermeulen C,Roelants M,Theeten H,Van Damme P,Hoppenbrouwers K

更新日期：2008-10-01 00:00:00

abstract：UNLABELLED:Two years after an accident resulting in either a mild head injury or a fractured bone, two groups of 22 children each, aged 4-14 years, were examined for the existence of any neurobehavioural symptoms by means of a standardized questionnaire filled out by their caretakers. Selection of the children was base...

journal_title：European journal of pediatrics

authors： Overweg-Plandsoen WC,Kodde A,van Straaten M,van der Linden EA,Neyens LG,Aldenkamp AP,Vermeulen M

更新日期：1999-03-01 00:00:00

abstract：UNLABELLED:Reports on schistosomiasis in children growing up in Europe are rare despite increased travel activity. We report on eight male and three female German children aged 50 months to 15 years with schistosomiasis. Six children were asymptomatic, whereas two presented with typical signs of Katayama fever. Persist...

journal_title：European journal of pediatrics

authors： Bialek R,Knobloch J

更新日期：2000-07-01 00:00:00

abstract：:Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...

journal_title：European journal of pediatrics

authors： Basatemur E,Hunter R,Horsfall L,Sutcliffe A,Rait G

更新日期：2017-10-01 00:00:00

abstract：:One hundred and twenty two cases of severe hyaline membrane disease are reported. 68 of them survived (57%). Adverse clinical, radiological and laboratory factors, and their effects on the early mortality rate, are analysed with particular reference to the referring centers, delay in admission, transport and the criti...

journal_title：European journal of pediatrics

authors： Goenen M,Ninane J,Ducoffre B,Declerck Y,Claus D,Ferriere G,Thomas-van Moerbeke RM,Moulin D,De Meyer R,Tremouroux J

更新日期：1978-03-13 00:00:00

abstract：:Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC...

journal_title：European journal of pediatrics

authors： Staretz-Chacham O,Aviram M,Morag I,Goldbart A,Hershkovitz E

更新日期：2018-11-01 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:About 50% of intersex cases are due to male pseudohermaphroditism, and of these cases, 50% are not clarified aetiologically. The association of idiopathic male pseudohermaphroditism and prenatal growth retardation has been recently reported. The aim of this study was to verify whether there was a difference ...

journal_title：European journal of pediatrics

authors： de Andrade Machado Neto F,Moreno Morcillo A,Trevas Maciel-Guerra A,Guerra-Junior G

更新日期：2005-05-01 00:00:00

abstract：:The aim of this retrospective study was to investigate the clinical characteristics and therapeutic outcomes of pulmonary arterial hypertension (PAH) secondary to congenital portosystemic shunts (CPSS). Thirty-three pediatric patients diagnosed in our institution with CPSS between 2012 and 2019 were enrolled in this s...

journal_title：European journal of pediatrics

authors： Wu J,Lu Y,Zhao W,Shen J,Li F,Zhang H,Chen Q,Fu L

更新日期：2020-10-03 00:00:00

abstract：:Indomethacin treatment for 1 week monitored by drug level determinations was evaluated in 32 preterm infants with symptomatic patent ductus arteriosus (sPDA). Inter- and intra-individual indomethacin dispositions varied considerably with the need for marked dosage adjustments to maintain the drug level within the prop...

journal_title：European journal of pediatrics

authors： Leonhardt A,Isken V,Kühl PG,Seyberth HW

更新日期：1987-03-01 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：:We studied the effects of an alginate compound (Gaviscon) on the frequency and the duration of gastroesophageal reflux (GOR) episodes in children. Twenty infants and children with characteristic symptoms of GOR were divided at random into two groups which were given either Gaviscon (ten patients, mean age: 21 months) ...

journal_title：European journal of pediatrics

authors： Buts JP,Barudi C,Otte JB

更新日期：1987-03-01 00:00:00

abstract：:Following a description of the genetic aspects of the human histocompatibility antigens system HLA and its principle typing methods, this paper reviews the relationship between HLA antigens, transplantation immunology and certain diseases. In particular, the role of the lymphocyte-defined antigens of the HLA-D system ...

journal_title：European journal of pediatrics

authors： Passarge E,Valentine-Thon E

更新日期：1980-03-01 00:00:00

abstract：:Forty newborns with severe shock and disseminated intravascular coagulation were randomized for treatment with heparin or placebo. Mortality was equal in both groups. The heparin group required significantly shorter periods of artificial ventilation. The coagulation system improved faster, and the coagulation pattern ...

journal_title：European journal of pediatrics

authors： Göbel U,von Voss H,Jürgens H,Petrich C,Pothmann R,Sprock I,Lemburg P

更新日期：1980-01-01 00:00:00

abstract：:Given the worldwide increase prevalence of overweight, obesity, and nonalcoholic fatty liver disease (NAFLD), the objective of this study was to evaluate whether the triglycerides and glucose (TyG) index is associated with hepatic steatosis in children with overweight or obesity. Apparently healthy children aged 5‑17 ...

journal_title：European journal of pediatrics

authors： Simental-Mendía LE,Ortega-Pacheco CJ,García-Guerrero E,Sicsik-Aragón MA,Guerrero-Romero F,Martínez-Aguilar G

更新日期：2021-01-25 00:00:00

abstract：:Serial ultrasound examinations were performed through the anterior fontanelle to detect and follow subependymal pseudocysts (SP) in 19 neonates without severe malformations. A high-resolution real-time sector scanner was employed. In 8 cases the SP involved both lateral ventricles, in 11 cases they were unilateral and...

journal_title：European journal of pediatrics

authors： Zorzi C,Angonese I

更新日期：1989-02-01 00:00:00

abstract：UNLABELLED:The aim was to determine whether semi-quantitative procalcitonin (PCT-Q) measurements on admission can identify the severity of meningococcal infection in children. A total of 65 children (mean age 2.4 years) with meningococcal disease were included in a prospective study. All patients were treated with anti...

journal_title：European journal of pediatrics

authors： Casado-Flores J,Blanco-Quirós A,Nieto M,Asensio J,Fernández C

更新日期：2006-01-01 00:00:00

abstract：:Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealin...

journal_title：European journal of pediatrics

authors： Moreira-Silva H,Maio I,Bandeira A,Gomes-Martins E,Santos-Silva E

更新日期：2019-04-01 00:00:00

abstract：:Four months after termination of successful chemotherapy for epipharyngeal B-non-Hodgkin lymphoma, an enlarging anterior mediastinal mass was discovered in a 15-year-old boy. There was no other suspicion of tumour recurrence. A simple thymic rebound was likely and a conservative management was chosen. Follow up for mo...

journal_title：European journal of pediatrics

authors： Leibundgut K,Willi U,Plüss HJ

更新日期：1992-02-01 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：:The conclusions of this mini-workshop are not substantially different from those previously published based on the USA experience [9]. This does not necessarily mean that there are no important differences between Europe and the USA, rather it reflects the paucity of data, especially in Europe. Moreover, European data...

journal_title：European journal of pediatrics

authors： Jebb SA,Lambert J

更新日期：2000-09-01 00:00:00

abstract：:Renal tubular dysgenesis is a critical disorder characterized by the Potter phenotype and severe hypotension in the early neonatal period. We herein report a 3-year-old female with renal tubular dysgenesis. Endocrinological studies showed a high plasma renin activity (over 49.2 ng/ml/h; normal range 2.0-15.2), high ac...

journal_title：European journal of pediatrics

authors： Uematsu M,Sakamoto O,Ohura T,Shimizu N,Satomura K,Tsuchiya S

更新日期：2009-02-01 00:00:00

abstract：:Severe hand, foot, and mouth disease (HFMD) is likely to develop critical complications such as brainstem encephalitis, acute pulmonary edema, and circulatory failure, which cause child mortality during outbreaks. This study aims to investigate factors that predict the severity of HFMD. One hundred sixteen in-patient ...

journal_title：European journal of pediatrics

authors： Li Y,Dang S,Deng H,Wang W,Jia X,Gao N,Li M,Wang J

更新日期：2013-05-01 00:00:00