Abstract：
:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Extraskeletal bone formation associated with inflammation preceding the osseous conversion usually begins in the first decade, predominantly in the head, neck, and shoulders. All patients have malformed great toes. Most patients have a spontaneous mutation of the ACVR1 gene. We report a 17-year-old girl with malformed great toes who had her first episode of heterotopic ossification and impaired mobility of the left hip at the age of 13 years. No inflammatory fibroproliferative masses preceded the onset of heterotopic ossification. Radiographic studies demonstrated myositis ossificans, but failure to associate the great toe malformation with heterotopic ossification led to a failure to diagnose FOP. She underwent repeated and unnecessary operative procedures to remove a recurrent lesion. FOP was finally suspected when the great toe malformation was correlated with the trauma-induced heterotopic ossification. Genetic analysis confirmed the presence of the classic FOP mutation (ACVR1 c.617G>A; R206H). This case highlights the importance of examining the great toes in anyone with heterotopic ossification. The association of malformations of the great toe with heterotopic ossification in all cases of classic FOP will lead to prompt clinical diagnosis and the prevention of iatrogenic harm.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Kartal-Kaess M,Shore EM,Xu M,Schwering L,Uhl M,Korinthenberg R,Niemeyer C,Kaplan FS,Lauten Mdoi
10.1007/s00431-010-1232-5subject
Has Abstractpub_date
2010-11-01 00:00:00pages
1417-21issue
11eissn
0340-6199issn
1432-1076journal_volume
169pub_type
杂志文章abstract：UNLABELLED:Increased plasma tumour necrosis factor alpha (TNF) concentration correlates with mortality in sepsis. We suggested that pentoxifylline (PTXF), which is known to inhibit TNF production, may improve survival and attenuate clinical symptoms of sepsis in neonates. Plasma TNF levels were evaluated in 29 newborn ...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/BF01955273
更新日期：1996-05-01 00:00:00
abstract：:Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We repo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3299-3
更新日期：2019-03-01 00:00:00
abstract：:The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was fo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442688
更新日期：1988-04-01 00:00:00
abstract：:In pediatric diabetes, insulin pump therapy is associated with less acute complications but inpatient pump education may lead to more hospital days. We investigated the number of hospital days associated with pump vs. injection therapy between 2009 and 2018 in 48,756 patients with type 1 diabetes < 20 years of age fro...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03883-2
更新日期：2021-02-01 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
pub_type： 杂志文章
doi：10.1007/s00431-006-0375-x
更新日期：2007-10-01 00:00:00
abstract：UNLABELLED:Human parechoviruses (HPeV) have been recently recognized as important viral agents in paediatric infections. The aims of this study were to investigate the HPeV infection prevalence in infants <1 month in Spain and, secondly, to analyse the clinical and epidemiological characteristics of the infected patien...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-015-2566-9
更新日期：2015-11-01 00:00:00
abstract：UNLABELLED:Tracheal bronchus (TB) associated with VACTERL has not been reported previously. A 5-month-old girl with VACTERL association was ventilator-dependent following surgical closure of a patent ductus arteriosus (PDA). Chest radiographs showed persistent hyperinflation of the right upper lobe. Bronchoscopy showed...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-002-1109-3
更新日期：2003-03-01 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
pub_type： 杂志文章
doi：10.1007/s00431-017-2917-9
更新日期：2017-07-01 00:00:00
abstract：UNLABELLED:Administration of human growth hormone (GH) has yielded conflicting results concerning its role on thyroid function in patients with Ullrich-Turner syndrome. Therefore, we investigated the course of thyroid hormone parameters and thyroxin binding globulin in relation to GH therapy, IGF-I and additional oxand...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s004310050563
更新日期：1997-02-01 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
pub_type： 杂志文章,评审
doi：10.1007/pl00014362
更新日期：2000-09-01 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
pub_type： 杂志文章,评审
doi：10.1007/s00431-017-3026-5
更新日期：2017-12-01 00:00:00
abstract：:We report a 28-day-old female infant with pertussis presenting as severe acute bronchiolitis with cyanosis. On admission, the patient's symptoms were similar to those of acute bronchiolitis. However, occasional apneic episodes with cyanosis and peripheral lymphocytosis suggested neonatal pertussis and prompted us to e...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0744-8
更新日期：2009-03-01 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
pub_type： 杂志文章
doi：10.1007/s00431-013-1939-1
更新日期：2013-05-01 00:00:00
abstract：:Neonatal diabetes, which may be transient or permanent, is rare. Most patients are full-term but small- for-date infants. Typical symptoms of diabetes mellitus occur within the first 4 weeks of life, requiring insulin therapy and very strict blood glucose monitoring. Subsequent growth and psychomotor development are u...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF01958635
更新日期：1995-12-01 00:00:00
abstract：:Plasma vitamin E levels were determined serially in preterm infants surviving respiratory distress syndrome (RDS) and in premature infants without RDS (control). Vitamin E intakes of the RDS and control infant group were not significantly different. The results of the study show that preterm infants surviving RDS have...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00446056
更新日期：1986-08-01 00:00:00
abstract：:In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02125433
更新日期：1993-01-01 00:00:00
abstract：:Fourteen children aged 9 months-4 years with moderate to severe mental retardation and varying neurologic lesions were referred for severe and continuous nocturnal sleep disturbances and very abnormal day/night schedules. All children had previously been given hypnotic medications and behavioral treatments which had l...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01953995
更新日期：1993-09-01 00:00:00
abstract：:Most reviews on weight status have focused on obesity, and little information on underweight children is available. This review aimed to examine the prevalence and trends of underweight status among Asian children and adolescent populations in the last two decades. A systematic review of publications between the years...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-012-1685-9
更新日期：2012-05-01 00:00:00
abstract：:Urinary recovery and serum determination of Paba were carried out in 48 control children (C) and 53 paediatric patients with cystic fibrosis (CF) divided into three classes by age. Ninety and 120 min after the ingestion of 15 mg/kg of BT-Paba and of a standard meal, serum Paba was determined. In the same subjects the ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00445804
更新日期：1984-12-01 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
pub_type： 杂志文章
doi：10.1007/s00431-019-03328-5
更新日期：2019-04-01 00:00:00
abstract：:Twenty patients with rheumatoid arthritis or Still's disease associated with growth failure were treated with human growth hormone, 7.5 to 17 U/m2 body surface per week. Five patients did not respond with better growth. In the remainder the mean growth rate increased from 1.9 cm/year (range: 0 to 3.3) to 6.2 cm/year (...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441894
更新日期：1979-01-18 00:00:00
abstract：:Of all newborn infants, 5% require some degree of basic life support at birth. Newborn resuscitation therefore is one of the most frequent procedures carried out in medicine. It is therefore important that the routines in use are evidence based. Newborn resuscitation can be divided into ten steps: (1) initial stabilis...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/pl00014284
更新日期：1998-01-01 00:00:00
abstract：:Specialist paediatric services manage a variety of presentations of functional somatic symptoms. We aimed to describe the presentation and management of children and adolescents with somatic symptom and related disorders (SSRDs) requiring admission to a tertiary children's hospital with the objective of informing the ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03867-2
更新日期：2020-11-13 00:00:00
abstract：UNLABELLED:Aim of our study was to evaluate Doppler renal blood flow velocity in asphyxiated neonates and to correlate renal function to Doppler findings. Doppler renal blood flow velocity was evaluated in 23 severely asphyxiated neonates born at a gestational age > 32 weeks and compared to our standard Doppler data ob...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050905
更新日期：1998-08-01 00:00:00
abstract：:A developmental approach to the management of sleep disturbances was successful in 85% (44/52) of the children (aged 2-36 months) within 2-6 weeks. No drugs were used. The approach was based on the following two principles: taking into account the characteristics of sleep behavior in infants and young children by sett...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442443
更新日期：1984-08-01 00:00:00
abstract：:This study is a retrospective analysis of seven patients with hypoechogenic lesions in the liver and/or spleen due to Bartonella henselae, who were followed from 1998 through to 2005 by the Department of Pediatrics, Turin University. In addition to showing constitutional symptoms, four children had skin lesions sugges...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0500-5
更新日期：2008-04-01 00:00:00
abstract：:Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02143799
更新日期：1995-01-01 00:00:00
abstract：UNLABELLED:The aim of this study was to assess the physical performance in long-term survivors of acute leukaemia in childhood and to evaluate the effects of anthracycline therapy. Electrocardiography, echocardiography and spiroergometry were carried out on 56 patients aged 9-28 years, of whom 44 patients had been trea...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050854
更新日期：1998-06-01 00:00:00
abstract：UNLABELLED:We studied the clinical and biochemical factors associated with surfactant dysfunction and factors affecting the responsiveness to exogenous surfactant among 27 neonates with haemorrhagic pulmonary oedema (HPE). HPE was defined as the presence of a large amount of blood-stained lung effluent and respiratory ...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-003-1276-x
更新日期：2003-10-01 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
pub_type： 临床试验,杂志文章
doi：10.1007/BF00442699
更新日期：1988-04-01 00:00:00
