Abstract:
:Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as third tier to increase the positive predictive value (PPV) which is known to be low in pure biochemical IRT/PAP protocols. Methods For post hoc analysis the data pool (n=372 906) of a study evaluating a pure biochemical IRT/PAP protocol was used for assessment of the 3-step G-BA protocol in comparison with an alternative screening protocol recommended by the authors. The difference between the 2 protocols is the procedure when IRT>99.9th percentile. In the G BA protocol PAP and DNA analysis will be by-passed while in the alternative protocol only the PAP step will be circumvented. Results Both 3-tier IRT/PAP+SN/DNA protocols did not lose sensitivity due to addition of genetic analysis when the results were compared to those of the 2-tier biochemical IRT/PAP protocol. However, the protocols provide different results regarding PPV. The G-BA protocol showed with 351 a much higher number of false-positively detected newborns (PPV 20.2%) when compared to 31 false-positively detected newborns in the alternative protocol (PPV 69.6%). Conclusions The G-BA protocol had a worse performance when compared with the alternative protocol recommended by the authors. The higher number of false-positively detected newborns using the G-BA protocol will lead to more consultations including sweat tests, will create more anxiety in parents, and will result in higher costs after screening.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Sommerburg O,Stahl M,Hammermann J,Okun JG,Kulozik A,Hoffmann G,Mall Mdoi
10.1055/s-0042-124187subject
Has Abstractpub_date
2017-03-01 00:00:00pages
59-66issue
2eissn
0300-8630issn
1439-3824journal_volume
229pub_type
杂志文章abstract::Within the scope of an observation study 40 premature low birth weight infants requiring parenteral nutrition received either 10% or 20% lipid emulsions (Lipovenös) for 7 days. The 10% lipid emulsion differs from the 20% lipid emulsion in the higher phospholipid/triglyceride-ratio (0.06 resp. 0.12). Lipid infusion was...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2007-1025318
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:Spinal compression can be a complication of neuroblastoma (NBL). Delayed or insufficient treatment of this condition may lead to permanent neurological sequelae. Therefore, appropriate treatment should be introduced promptly. Therapeutic options include neurosurgery, chemotherapy, and radiation therapy. CAS...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1065340
更新日期:2008-05-01 00:00:00
abstract::An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Pa...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026754
更新日期:1987-01-01 00:00:00
abstract:UNLABELLED:It was the aim of the cooperative therapy study HD-82 for children with Hodgkin's disease to reduce chemo- and radiotherapy and to investigate of a strategy for selective splenectomy previously developed in the Hodgkin study HD-78. Between December 1981 and December 1984 207 patients (131 boys and 76 girls) ...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2008-1026870
更新日期:1986-05-01 00:00:00
abstract::16 term and preterm neonates received intravenous nutriton for at least three days. The dosage was 1--2 g amino acids, 1 g of fat, and 8--10 g glucose per kg body weight and day. Compatibility was investigated by daily determinations of the amino acid pattern in the serum and measurement of free fatty acids and trigly...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-07-01 00:00:00
abstract:BACKGROUND:In study AML-BFM 87 the relapse rate was lower in patients receiving cranial irradiation (CRT). However, CRT has always been associated with adverse cognitive side effects. Therefore, the impact of CRT on neuropsychological function in children with AML was retrospectively evaluated. PATIENTS:We tested 53 c...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2002-19861
更新日期:2002-01-01 00:00:00
abstract::Hemophagocytic lymphohistiocytosis (HLH) is a systemic inflammatory disorder characterized by uncontrolled histiocytic proliferation, hemophagocytosis, macrophage activation, and up-regulation of inflammatory cytokines (Grom AA., Current opinion in rheumatology 2003; 15: 587-590). HLH is usually divided into two types...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-1110-7303
更新日期:2020-02-25 00:00:00
abstract::Scoring systems for evaluation of the degree of severity in patients with cystic fibrosis are critically evaluated. Cross-sectional comparison of Shwachman's score, Cooperman's score, Taussig-NIH score, Bernese score and Huang score reveals that advantages and disadvantages of each score exist. In early days used as a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2007-1025188
更新日期:1993-01-01 00:00:00
abstract:UNLABELLED:We present updated results of stem cell transplantation with highly purified stem cells from haploidentical parental donors and infection with human adenovirus (HAdV) post stem cell transplantation (SCT). Survival post SCT is primarily determined by relapse, infections and far less by GvHD or other transplan...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-872530
更新日期:2005-11-01 00:00:00
abstract::Immunological responses are divided into those mediated by humoral antibody (B-Cells) and those by cells (T-Cells). Both depend upon the activity of small lymphocytes which become thymus or bursa analogue dependent during embryonic development. Primary immundeficiencies are therefor defects of lymphocytes attributed i...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:
更新日期:1975-11-01 00:00:00
abstract::In children with primary immunodeficiencies, the onset of symptoms precedes the diagnosis and the initiation of appropriate treatment by months or years. This delay in diagnosis is due to the fact that while these disorders are rare, some of the infections seen in immunodeficient patients are common. Defective antibod...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1354415
更新日期:2013-11-01 00:00:00
abstract::Report on two babies, 5 and 6 months old with severe salt depletion were admitted to our hospital with fever and gastro-enteritis. One of them failed to thrive despite normal nutrition, the other one had a protracted gastro-enteritis. Both of them had a great loss of weight, a strong dehydration and were in reduced ge...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043976
更新日期:1997-11-01 00:00:00
abstract::Neurofibromatosis type 1 is the most common of the phakomatoses and the clinical follow-up is an interdisciplinary challenge. The data of 27 patients with NF1 were systematically reviewed and compared to data from the literature. All of our patients had clinical signs of NF1. Besides the classic criteria café-au-lait ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-973086
更新日期:2007-11-01 00:00:00
abstract:BACKGROUND:Late effects become progressively more important for the evaluation of therapeutic success in paediatric oncology. Thus, in 1998, the Late Effects Surveillance System (LESS) started to register and assess multicentrally, prospectively and longitudinally late effects of treatment for the group of Ewing's, sof...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836503
更新日期:2005-05-01 00:00:00
abstract::We examined the effectiveness of a high-dose Immunglobulin therapy in 8 patients with idiopathic thrombocytopenic purpura (ITP) and measured the number, the morphology and the function of Thrombocytes as well as thrombocyte dependent clotting parameters. 0.5 g/kg/B.W. 7s-Immunglobulin (7s-IgG) per treatment led to nor...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034034
更新日期:1983-01-01 00:00:00
abstract::Die Fortschritte der molekularen Diagnostik haben neue Türen für die Diagnosestellung, Risikostratifizierung und Präzisionsonkologie für Kinder mit Hirntumoren aufgestoßen. Dieses Wissen konsequent und systematisch in einen klinischen Nutzen zu übertragen wird Aufgabe der kommenden Jahre sein. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-0750-8353
更新日期:2018-10-01 00:00:00
abstract::The therapy of complicated Kaposiform hemangioendothelioma (KHE) is still difficult. We present the first case of laryngomalacia with simultaneous mammalian target of Rapamycin (mTOR)-positive KHE of the neck and thoracic inlet and concurrent Kasabach-Meritt Phenomenon (KMP) in an 11-month-old boy suffering life-threa...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1372587
更新日期:2014-11-01 00:00:00
abstract::To evaluate the impact of megatherapy on the outcome of high risk neuroblastoma, 39 patients with stage IV neuroblastoma, who underwent megatherapy, were analyzed retrospectively and compared to 49 patients, who continued chemotherapy according to the German cooperative trial NB85. The groups were comparable concernin...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043950
更新日期:1997-07-01 00:00:00
abstract::An increasing number of children with acute leukemia show cerebral complications. 10 out of 78 children treated in our hospital for acute lymphoblastic leukemia or non-Hodgkin's lymphoma who underwent remission induction therapy or were in continuous complete remission developed central nervous system complications. D...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035608
更新日期:1980-07-01 00:00:00
abstract::The clinical significance of colloid osmotic pressure (COP) in transcapillary fluid exchange and water homeostasis in health and disease is described. Under pathophysiological circumstances measurement of COP should be preferred to COP value calculation. After extensive COP experiences in critically ill adults and num...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034010
更新日期:1985-09-01 00:00:00
abstract::Interferons are components of the nonspecific defense system. Their most prominent biological roles are the antiviral, the antiproliferative, and the immunoregulatory activities. However, their primary functions within the organism remains to be determined. Three types of IFNs have been described so far (IFN alpha, IF...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033980
更新日期:1985-07-01 00:00:00
abstract:BACKGROUND:Anticonvulsants require special consideration particularly at the interface from hospital to ambulatory care. PATIENTS AND METHOD:Observational study for 6 months with prospectively enrolled consecutive patients in a neuropediatric ward of a university hospital (age 0-<18 years) with long-term therapy of at...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1345174
更新日期:2013-09-01 00:00:00
abstract::Crohn's Disease and Ulcerative Colitis play a vital role in the differential diagnosis of inflammatory diseases of the colon during childhood. Pediatricians, radiologists, pediatric surgions and pediatric pathologists have been frequently confronted with the problem of distinguishing the two diseases. Morphologically,...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-03-01 00:00:00
abstract::This case report describes the forensic examination of 7 girls aged between 4-11 years with suspected sexual abuse. The children had been reported by local pediatricians, hospital physicians or authorities such as the youth welfare office and police due to mucosal changes in the anogenital area. All children presented...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1395616
更新日期:2015-07-01 00:00:00
abstract::CML is a rare malignancy in childhood not yet being treated by an established protocol of the Society of Pediatric Oncology and Hematology (GPOH). Up to now only allogeneic bone marrow transplantation (BMT) offers a curative treatment option. After being enrolled into the study "CML-päd" patients with a matched siblin...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,多中心研究
doi:10.1055/s-2008-1046480
更新日期:1996-07-01 00:00:00
abstract::This report outlines the endocrine abnormalities associated with intracranial germinoma in childhood. The presence of special tumoral markers as alpha 1-fetoprotein and beta-HCG could be of diagnostic value and is important in respect to therapy control. However the reported case shows that despite known radiosensitiv...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033927
更新日期:1985-01-01 00:00:00
abstract::340 consecutive patients with neuroblastoma stage IV were analyzed for the possible impact of chemotherapy on general condition, remission status, event free survival and survival. The children entered the trials NB 79, NB 82 and NB 85 of the German Pediatric Oncology Society (GPO). The patients did benefit from chemo...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1055/s-2007-1025531
更新日期:1990-07-01 00:00:00
abstract::We report on a 13.2 years old boy who was treated for tall stature (expected target height of 204.8 +/- 5.4 cm) with high dose of testosterone. Therapy for height reduction was started with testosterone injections (250 mg Testoviron Depot i.m.) once a week. There occurred no side effects during 6 months of treatment. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043822
更新日期:1999-09-01 00:00:00
abstract::Mucoid impaction and plastic bronchitis are relatively rare disorders affecting patients of any age. Here we report the case of mucoid impaction developing in a four-year-old child as a complication of pneumonic infection treated four weeks prior. p.a. chest X-ray and fiberoptic bronchoscopy showed atelectasis and the...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836608
更新日期:2006-03-01 00:00:00
abstract::In 37 children with extrahepatic biliary atresia between 12 days in 9 years of age we performed 72 duplexsonographic examinations of the portal system and the hepatic artery. In the control group we investigated 61 healthy children. All investigations were performed with computer sonography (Acuson 128) with a 3.5 MHz...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025481
更新日期:1990-01-01 00:00:00