Abstract：
UNLABELLED:Of the many complications associated with glycogen storage disease type I, hepatic tumours cause great concern because of their malignant potential and the current difficulties in monitoring them. Hepatic adenomas occur in 22%-75% of affected adults, according to the population studied, and from those reported in the literature are thought to have an approximately 10% risk of undergoing malignant transformation. Their aetiology is unclear, but they occur generally in post-pubertal patients, and can be either single or multiple. This article discusses theories of their aetiology, methods of detection and monitoring, and treatment options. CONCLUSION:the incidence of liver tumours in younger adults seems less than in older ones, suggesting that better dietary treatment, and thus improved metabolic control, may be protective. Surgery (partial hepatectomy or orthotopic liver transplantation) is the definitive therapy for these tumours, but the timing of this intervention is difficult to determine and it is not without its own hazards.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Lee PJdoi
10.1007/s00431-002-1002-0keywords:
subject
Has Abstractpub_date
2002-10-01 00:00:00pages
S46-9eissn
0340-6199issn
1432-1076journal_volume
161 Suppl 1pub_type
杂志文章,评审abstract：UNLABELLED:Primary spontaneous pneumothorax (PSP) is not uncommon, and its recurrence is often a challenging clinical problem. Surgical management and predisposing factors for the recurrence of PSP, however, have not yet been well elucidated in adolescent patients. The major aim of this study was to investigate factors...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2352-0
更新日期：2014-11-01 00:00:00
abstract：:Maternal morbidity is associated with cesarean deliveries. However, new evidence suggests that short- and long-term neonatal morbidity is also associated. This includes respiratory morbidity with conflicting results. To determine whether mode of delivery has an impact on the long-term risk for respiratory morbidity in...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3225-8
更新日期：2018-11-01 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
pub_type： 杂志文章
doi：10.1007/s00431-017-2986-9
更新日期：2017-10-01 00:00:00
abstract：UNLABELLED:Click-evoked oto-acoustic emissions (CEOAE) are acoustic responses produced by the inner ear, reflecting functional auditory integrity. We studied both the success rate of the CEOAE method and the CEOAE presence in preterm infants during their stay at the Neonatal Intensive Care Unit (NICU), by analysis of t...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050986
更新日期：1998-12-01 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
pub_type： 杂志文章
doi：10.1007/BF00441644
更新日期：1980-12-01 00:00:00
abstract：:Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at le...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0572-2
更新日期：2008-07-01 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
pub_type： 杂志文章
doi：10.1007/BF00595915
更新日期：1989-02-01 00:00:00
abstract：UNLABELLED:Breastfeeding provides perfect nutrition for infants and is a source of many health benefits for both mother and baby. To obtain the maximum beneficial effects of breast milk, it is necessary to prolong the breastfeeding duration. In this study, we investigated the factors influencing the duration of breastf...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2066-8
更新日期：2013-11-01 00:00:00
abstract：:Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01954125
更新日期：1992-12-01 00:00:00
abstract：:Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the e...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0847-2
更新日期：2009-07-01 00:00:00
abstract：: ...
journal_title：European journal of pediatrics
pub_type： 信件
doi：10.1007/s00431-018-3259-y
更新日期：2019-01-01 00:00:00
abstract：:We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441586
更新日期：1980-03-01 00:00:00
abstract：:An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on f...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00465567
更新日期：1977-12-30 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：:We report two Chinese boys with Wiskott-Aldrich syndrome presenting with gastro-intestinal bleeding, eczema and recurrent infection. They had thrombocytopenia and the mean platelet volume was small. Serum IgG and IgA were elevated and lymphocyte proliferation in response to phytohaemagglutinin, concanavalin A and poke...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957573
更新日期：1992-09-01 00:00:00
abstract：:Congenital syphilis is now rare in Australia, particularly in suburban areas. The disease is both preventable and treatable, however, missed or late diagnosis can lead to catastrophic effects. We report an infant who developed congenital syphilis after multiple opportunities for preventing this condition were missed. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-005-0050-7
更新日期：2006-05-01 00:00:00
abstract：:We report on a 10-year-old girl who was presented to the Emergency Department with a 3-day history of "vaginal bleeding", the cause of which was determined to be urethral prolapse. Urethral prolapse occurs when the urethra mucosa evaginates beyond the urethral meatus. This uncommon condition in prepubescent girls shou...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0523-y
更新日期：2008-05-01 00:00:00
abstract：:An 8-month-old boy and a 7-month-old girl presented with an acute, Coombs-positive auto-immune haemolytic anaemia and severe hepatitis. The clinical manifestations were pallor, jaundice and hepatomegaly. The liver histology revealed diffuse giant cell transformation and extensive necrosis with central-portal bridging....
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01955929
更新日期：1991-03-01 00:00:00
abstract：:No previous studies have focused on postoperative fat malabsorption in children with choledochal cyst (CC) who undergo cyst excision and Roux-en-Y (RY) hepatico-jejunostomy (HJ), a combination of procedures that can lead to the non-physiological mixture of food and bile juice. To examine the effect of RYHJ with cholec...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0703-4
更新日期：2009-01-01 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
pub_type： 杂志文章,评审
doi：10.1007/s00431-019-03531-4
更新日期：2020-03-01 00:00:00
abstract：:Although thyroid medications are frequently prescribed during pregnancy, paediatricians treating the respective neonates often have no information about the underlying maternal thyroid disease, and inconsistencies in postnatal diagnostics may result. We analysed a cohort of 1819 mothers admitted for delivery in 1 year...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-018-3232-9
更新日期：2018-11-01 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
pub_type： 杂志文章
doi：10.1007/s00431-020-03623-6
更新日期：2020-09-01 00:00:00
abstract：UNLABELLED:A collaborative study, supported by the Biomed2 Programme of the European Community, was initiated to optimise the aetiological diagnosis in genetic or gonadal males with intersex disorders, a total of 67 patients with external sexual ambiguity, testicular tissue and/or a XY karyotype. In patients with gonad...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究,评审
doi：10.1007/s00431-001-0854-z
更新日期：2002-01-01 00:00:00
abstract：:The name of the co-author Wendy J. Ungar was inadvertently omitted on the original published article. Her name and affiliation have now been added to the author list. ...
journal_title：European journal of pediatrics
pub_type： 已发布勘误
doi：10.1007/s00431-019-03526-1
更新日期：2020-02-01 00:00:00
abstract：:Medical clowns have an important role in helping patients cope with their pain and distress. This is especially true in the pediatric population. However, their activity in a disaster area is unheard of. Following the Nepal earthquake in 2015, the Israeli field hospital set up in Kathmandu, Nepal was joined by five vo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-3018-5
更新日期：2018-02-01 00:00:00
abstract：:This is apparently the first report on connatal hemihypertrophy with malignant pheochromocytoma. The coincidence of hemihypertrophy with other diseases, particularly neuroectodermal dysplasias on the one hand and the frequent association of neuroectodermal dysplasias with pheochromocytoma on the other, are emphasized....
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00481506
更新日期：1976-07-12 00:00:00
abstract：:Chylothorax is defined as an effusion of lymph in the pleural cavity. In the neonate both congenital and traumatic (iatrogenic) forms exist. Birth asphyxia and respiratory insufficiency are major symptoms of congenital chylothorax, requiring resuscitation and artificial ventilation. Antenatal diagnosis by ultrasound a...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02072505
更新日期：1993-01-01 00:00:00
abstract：UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02002905
更新日期：1996-09-01 00:00:00
abstract：UNLABELLED:We describe the case of a boy with steroid sensitive nephrotic syndrome and left pulmonary artery thrombo-embolism. clinical presentation initially suggested sepsis and respiratory signs were minor. Treatment with tissue plasminogen activator infused into the pulmonary artery was successful. CONCLUSION:Pulm...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050684
更新日期：1997-08-01 00:00:00
abstract：:Female genital mutilation (FGM) is defined as an injury of the external female genitalia for cultural or non-therapeutic reasons. FGM is mainly performed in sub-Saharan and Eastern Africa. The western health care systems are confronted with migrants from this cultural background. The aim is to offer information on how...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0702-5
更新日期：2009-01-01 00:00:00
