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 medical decisions in newborns with trisomy 18 was done. Two main subjects were examined: (1) the chances of survival and (2) the perception of quality of life. Trisomy 18 is no longer considered a disease incompatible with life, and the discussion has shifted towards the type of treatment that is appropriate to initiate at birth. There are two medical attitudes towards these children: either palliative care or life-prolonging interventions. With medical intervention, the survival is as high as 23% at 5 years of age. Regarding the quality of life, all decision-makers emphasize the possibility of taking the child home. The physicians' perception is more pessimistic than that of the parents. Only a few children benefit from medical interventions.Conclusion: There is a rethinking of treatment behavior in children with trisomy 18. The possible quality of life achieved should be further investigated. It seems inappropriate to simply dismiss medical interventions.What is Known• Until recently, trisomy 18 was considered a disease incompatible with life. The most common behavior was abortion and denial of treatment.What is New• It is no longer considered a lethal disease. The type of medical intervention that is appropriate to perform is now being discussed. Selected children benefit from an interventionist approach.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Silberberg A,Robetto J,Grimaux G,Nucifora L,Moreno Villares JMdoi
10.1007/s00431-019-03531-4subject
Has Abstractpub_date
2020-03-01 00:00:00pages
493-497issue
3eissn
0340-6199issn
1432-1076pii
10.1007/s00431-019-03531-4journal_volume
179pub_type
杂志文章,评审abstract:UNLABELLED:A newborn boy was referred to our hospital because of hemolytic anemia and severe hyperbilirubinemia. Extensive investigations aimed at determining the cause of hemolysis was initiated at the time of admission and 3 months after blood transfusion. Notably, no intrinsic erythrocyte abnormalities could be dete...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2374-7
更新日期:2014-12-01 00:00:00
abstract:UNLABELLED:Increased breastfeeding was suggested as a contributing factor to significant hyperbilirubinemia. The aim of this study was to identify the risk factors associated with jaundice in exclusively breastfed term neonates. We retrospectively reviewed all consecutively live-born neonates from August 2009 to July 2...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1512-8
更新日期:2012-01-01 00:00:00
abstract::Neonatal acute respiratory distress syndrome (NARDS) reflects pulmonary surfactant dysfunction, and the usage of bovine surfactant (Calsurf) supplement may therefore be beneficial. To determine whether bovine surfactant given in NARDS can improve oxygenation and survival rate, we conducted a multicenter, randomized tr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03821-2
更新日期:2020-10-21 00:00:00
abstract::Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonogra...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441403
更新日期:1988-12-01 00:00:00
abstract:UNLABELLED:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100790
更新日期:2001-09-01 00:00:00
abstract::Total serum LDH activity and isoenzyme distribution were studied in children with neuroblastoma at the time of hospital admission. The total LDH was determined in 26 cases, and 20 (77%) of them showed elevation of its activity. On the other hand, in 9 of these 26 cases, the isoenzyme distribution was determined along ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442638
更新日期:1976-09-01 00:00:00
abstract::Most pediatric asthma guidelines offer evidence-based or best practice approaches to the management of asthma exacerbations but struggle with evidence-based approaches for severe acute asthma (SAA). We aimed to investigate current practices in children with SAA admitted to European pediatric intensive care units (PICU...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-019-03502-9
更新日期:2020-03-01 00:00:00
abstract::The study material consisted of 251 newborn light-treated infants with rhesus haemolytic disease (RHD) caused by anti-D. 139 infants were treated with ordinary phototherapy (white single light) and 112 infants with intensive phototherapy (blue double light). An evaluation was made as to wheter the indications for earl...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444752
更新日期:1980-01-01 00:00:00
abstract:UNLABELLED:Improved surgical care during the last decades, together with advances in medical management, led to a remarkable increase in survival of patients with congenital heart disease (CHD). However, aging of the CHD population brings new challenges, and loss of follow-up of adolescents and adults with CHD is a maj...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-015-2557-x
更新日期:2015-07-01 00:00:00
abstract:UNLABELLED:The need to reappraise sedation policy is dictated by newer noninvasive imaging modalities. In this study we evaluate the safety and efficacy of rectally-administered thiopental in children undergoing MRI. Eighty-three consecutive patients with congenital heart disease (mean age 2.9 years, SD 2.5) undergoing...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::IgG subclass levels were determined in 448 normal children from 6 months to 18 years of age and in 141 healthy adults by radial immunodiffusion using monoclonal antibodies. Age-normal percentile values were calculated for each year of age up to 18 years for IgG1, IgG2, IgG3 and in adults for all four subclasses. The b...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958271
更新日期:1989-12-01 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
pub_type: 杂志文章
doi:10.1007/s00431-005-1626-y
更新日期:2005-05-01 00:00:00
abstract::Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02138781
更新日期:1994-01-01 00:00:00
abstract::Tonsillectomy is one of the commonest ENT paediatric procedures. Recovery is best achieved at home, and cost-effectiveness of the day case pathway is significant in tonsillectomy. This project scrutinised the local practice regarding the effectiveness of day case pathway in paediatric tonsillectomy in a large regional...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3220-0
更新日期:2018-11-01 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
pub_type: 杂志文章
doi:10.1007/BF00441551
更新日期:1989-04-01 00:00:00
abstract:UNLABELLED:The purpose of this study was to assess how much of the variance in intellectual outcome at 2 and 6 years of age could be attributed to treatment variables in children with congenital hypothyroidism, and which of the parameters used for monitoring treatment predicted later development. Forty-five children, e...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01955261
更新日期:1996-05-01 00:00:00
abstract:UNLABELLED:To examine the value of surfactant protein D and KL-6 as markers for the diagnosis and the severity of interstitial pneumonia caused by measles infection, surfactant protein D, KL-6 and lactic acid dehydrogenase were measured serially in three patients with measles complicated by interstitial pneumonia as co...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310100763
更新日期:2001-07-01 00:00:00
abstract::A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442508
更新日期:1982-07-01 00:00:00
abstract::Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female mo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1497-3
更新日期:2012-01-01 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
pub_type: 杂志文章
doi:10.1007/s00431-020-03777-3
更新日期:2021-01-01 00:00:00
abstract:UNLABELLED:Psychological adjustment in children with liver disease was investigated. Three groups of children 6-15 years old participated: ten had undergone a liver transplant (Gp1), 15 had ongoing chronic liver disease (Gp2) and 15 were healthy controls (Gp3). Children who had had a transplant appeared well adjusted a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050953
更新日期:1998-10-01 00:00:00
abstract::A pure growth of Branhamella catarrhalis was obtained from a purulent bronchial exudate in a 28-month-old Rwandese girl, hospitalized for acute inspiratory dyspnoea with fever. The outcome was favourable under treatment with ampicillin, although the isolate was shown to produce a beta-lactamase in vitro. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442307
更新日期:1985-03-01 00:00:00
abstract::A girl developed acute agranulocytosis (45/mm3), 37 days after the onset of infectious mononucleosis. The bone marrow showed myeloid hyperplasia with maturation arrest and erythroid hypoplasia. A normal amount of colony forming units of granulocytes and macrophages (CFU-GM) colonies with a relative high number of clus...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959523
更新日期:1990-07-01 00:00:00
abstract::This article summarizes some research on the development of motion perception in early infancy. The sensitivity for slow and rapid motion was studied with 1-month-old and 3-month-old babies. The findings suggest that there are different developmental courses for the detection of slow and rapid motion. The ability to d...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02191506
更新日期:1995-01-01 00:00:00
abstract::We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenog...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00447379
更新日期:1979-10-01 00:00:00
abstract:UNLABELLED:Convincing evidence of moderate hyperhomocysteinaemia as a risk factor for vascular disease has accumulated within the last decade being independent of conventional risk factors and equally strong as hypercholesterolaemia and smoking. A synergistic interaction with hypertension and smoking in their joint art...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/pl00014292
更新日期:1998-04-01 00:00:00
abstract::This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of beta zero-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive inc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02093721
更新日期:1991-04-01 00:00:00
abstract::Mucocutaneous bleeding is common in childhood and may be the result of primary hemostatic disorders such as vascular abnormalities, von Willebrand disease, thrombocytopenia, and platelet dysfunction. A detailed bleeding history and physical examination are essential to distinguish between normal and abnormal bleeding ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-011-1532-4
更新日期:2012-01-01 00:00:00
abstract:UNLABELLED:Neutrophils are an essential component of the human host defence system against infection. Recombinant human granulocyte colony-stimulating factor induces neutrophilia and enhances effector functions of mature neutrophils. Since the biological effects of granulocyte colony-stimulating factor (G-CSF) are medi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051129
更新日期:1999-06-01 00:00:00
abstract::Two unique associations of disease with Escherichia coli O157:H7 are presented. These cases broaden the spectrum of disease associated with this organism which currently includes bloody and non-bloody diarrhoea, haemolytic-uraemic syndrome, and thrombotic thrombocytopenic purpura. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02106287
更新日期:1990-01-01 00:00:00