Abstract:
:We have performed in situ hybridization (ISH) studies predominantly on paraffin sections and on isolated nuclei of 22 pediatric germ cell tumors (GCTs) from 18 patients including 4 recurrences from three patients. In addition, we performed conventional cytogenetic analyses in three tumor samples. Because reports on cytogenetic studies in pediatric GCTs are scarce we focused our studies on those chromosome abnormalities frequently observed in adult GCTs. These included numeric and structural abnormalities of chromosomes 1 and 12 (e.g. isochromosome 12p) and numeric deviations of chromosomes 8, 10, X and Y. The histological subsets of the tumors investigated included two dysgerminomas (DGE), one seminoma (SE), one combined seminoma, two embryonal carcinomas (EC), two recurrent ECs, six pure yolk sac tumors (YST), five combined teratomas, one immature teratoma (IT) and two recurrences of IT, and three differentiated teratomas (TD). Similar to the GCTs in adults, additional copies of chromosome 12 were the most frequently observed numeric abnormalities. The analysis of two paraffin-embedded tumors suggested that changes in the size of the pericentromeric hybridization signals of chromosome 12 may be attributed to the presence of i(12)(p10). This was confirmed following the karyotype analysis of one EC which unequivocally revealed the presence of two i(12)(p10). Interestingly, using these probes, no chromosomal abnormalities were found in the pure TD or in the TD cells of mixed tumors containing a YST component. In the YST portion, however, the 1p deletions and/or numeric chromosome changes were present. Surprisingly, deletions at the short arm of chromosome 1, del(1)(p36.3), were frequently observed in malignant pediatric GCTs and were the sole abnormality detected in one case.(ABSTRACT TRUNCATED AT 250 WORDS)
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Stock C,Ambros IM,Strehl S,Zoubek A,Fink FM,Gadner H,Ambros PFdoi
10.1055/s-2008-1046547subject
Has Abstractpub_date
1995-07-01 00:00:00pages
235-41issue
4eissn
0300-8630issn
1439-3824journal_volume
207pub_type
杂志文章abstract:INTRODUCTION:Gender dysphoria (GD) in childhood and adolescence is characterized by an incongruence between sex at birth and gender identity, which usually increases during puberty. Gender dysphoric children and adolescents often suffer from psychological comorbidities such as depression. The purpose of our study is to...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/a-1066-4625
更新日期:2020-01-01 00:00:00
abstract::In 25 very low birth weight infants appropriate for gestational age the influences of different human milk (HM) preparations on weight gain, gross indices of nitrogen metabolism and energy balance were studied during the second month of postnatal life. HM was fortified either by HM-protein (HMP) or by an enzymatic mea...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025538
更新日期:1990-09-01 00:00:00
abstract::Human growth hormone was given to 6 boys with constitutional delay of growth and development. Three patients had normal growth hormone responses following exercise or insulin-induced hypoglycemia. Subnormal growth rate (less than 2 SD below normal for bone age) was found in 4 patients. The mean growth rate of the pati...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025580
更新日期:1984-03-01 00:00:00
abstract::A report was made of three patients who exhibited pronounced heptosplenomegaly at the time of hospital admission: a six-year-old girl and two brothers, 1 year 4 months and 4 years 4 months of age. As is typical for Niemann-Pick disease, foam cells were found in the bone marrow and the liver biopsy specimens for the th...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
abstract:BACKGROUND:Modern neonatal and pediatric intensive care includes a sophisticated pharmacotherapy with numerous drugs, mainly administered intravenously. Often, despite the use of multi-lumen central venous lines, more peripheral venous accesses are required. To reduce the necessity of numerous venous lines on one hand ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836937
更新日期:2007-01-01 00:00:00
abstract::In 55 high-risk neonates of different birth-weight and gestational age, transcutaneous pO2 (tcpO2) was continuously monitored during transports from the Obstetric Units to the Neonatal Intensive Care Units. We were able to demonstrate that the need for oxygen was overestimated in most of the children and thus FiO2 cou...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033907
更新日期:1986-11-01 00:00:00
abstract::The present clinical observation is related to a 14-year-old girl suffering from acute myeloid leukemia. The clinical course was complicated by episodes of severe enterocolitis, E. coli- septicemia, pancreatitis and pneumonia. In the course of continued cytostatic and antibiotic treatment a persistent asymptomatic Lac...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043764
更新日期:1999-03-01 00:00:00
abstract:BACKGROUND:17beta hydroxysteroid dehydrogenase deficiency is a presumable rare cause for a severe virilization disorder in children with 46,XY karyotype due to a defect in the testicular testosterone biosynthesis from androstenedione. PATIENT:We report on a 14 year old child with 46,XY karyotype with a predominantly f...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2002-34015
更新日期:2002-09-01 00:00:00
abstract::A case of arteriovenous aneurysm of the great vein of Galen with congestive heart failure in a newborn infant is presented. Efficiancy of medical management and stop of growth of the head circumference point towards a good prognosis. Patients with this malformation have been divided into four clinical groups presentin...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-09-01 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::The are various opinions about the optimal therapy of endemic goiter in adolescents. From 106 patients (75 girls) suffering from endemic goiter 50 patients (group A) were treated with 300 micrograms iodine per day and 56 patients (group B) with 100 micrograms iodine plus 100 micrograms levothyroxine per day. Before th...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1055/s-2008-1046460
更新日期:1996-05-01 00:00:00
abstract::More than 40 years ago, Toxocara ssp. was identified as the cause of larva migrans visceralis and ocular larva migrans, which mainly affect infants and children. Although widespread in most parts of the world, the parasitic disease is rarely diagnosed in Germany. Focusing on clinical and pathophysiological similaritie...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1043867
更新日期:1998-05-01 00:00:00
abstract::In the period from 1965 to 1979 biopsies from the oropharynx of 11 children with non-Hodgkin's lymphoma were collected at the Lymph Node Registry in Kiel. Palatine tonsil tissue was examined in all cases and, in addition, specimens from the retrolingual region of one child and the epipharynx of two patients. All biops...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034073
更新日期:1983-05-01 00:00:00
abstract::We report on a phenotypically male newborn with 45,X/46,X,dic(Y)-mosaicism. Right-sided inguinal hernia was surgically corrected. Histological examination of the tissue revealed an ambiguously differentiated gonad on this side. The clinical, cytogenetic, and histological results are described and the prognosis and cli...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-832335
更新日期:2005-09-01 00:00:00
abstract::Evoked otoacoustic emissions (EOAE) and brainstem acoustic evoked potentials (BAEP) were recorded from 78 children following neonatal intensive care. In 23% no EOAE could be obtained. Hearing impairment in the BAEP was found in 9%. In 22% negative EOAE were found in spite of normal BAEP. According to the latency-inten...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046586
更新日期:1994-03-01 00:00:00
abstract::The present paper reports on a striking increase in undesirable drug induced reactions during simultaneous administration of high-dosage phenobarbital and beta-lactam antibiotics to children in intensive care. In a 30-month study period, reactions which had to be classified as drug-induced were seen in 24 out of a tot...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2007-1025555
更新日期:1990-11-01 00:00:00
abstract::Members of the histone deacetylase (HDAC) family exhibit great promise as potential drug targets in pediatric tumors including neuroblastoma, medulloblastoma, ependymoma and Ewing's sarcoma. HDAC inhibitors of various structural classes have shown anti-tumoral effects in pre-clinical pediatric tumor models as single a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,多中心研究
doi:10.1055/s-0032-1323692
更新日期:2012-10-01 00:00:00
abstract::Newly diagnosed immune thrombocytopenia occurs in 3-5/100 000 children < 14 y per year. Bleeding symptoms do not correlate with platelet count. Diagnostic approach includes history, clinical examination and analysis of blood count with blood smear by experienced hematologist. Additional investigations are only necessa...
journal_title:Klinische Padiatrie
pub_type: 共识发展会议,杂志文章
doi:10.1055/s-0032-1306277
更新日期:2012-04-01 00:00:00
abstract::Guillain Barré syndrome (GBS; Synonyma: Polyneuritis, Polyradikulitis) is an acute, inflammatory, demyelinating disease of the peripheral nerve system. Clinical hallmarks are symmetric muscle paralysis, areflexia and pronounced autonomic disturbances. Respiratory failure and cardiovascular instability are the main rea...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-971050
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:Autism spectrum disorders (ASDs) are a group of developmental disabilities in childhood and adolescence. Beside genetic predisposition also environmental influences may contribute to the ASD pathogenesis. Family members of children and adolescents with ASD often ask for specific diets to alleviate ASD-associ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-0041-110207
更新日期:2016-03-01 00:00:00
abstract:BACKGROUND:Sonographic screening helps to discover pathological findings in asymptomatic patients. In these cases the decision about diagnostic and therapeutic consequences is difficult. CASE REPORT:We describe a girl with a congenital small solitary hepatic cyst with rapidly increasing size after the second year, whi...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2002-35364
更新日期:2002-11-01 00:00:00
abstract:BACKGROUND:We wanted improve the nutritional status of patients with cystic fibrosis with enteral feeding via a percutaneous endoscopic gastrostomy (PEG). PATIENTS AND METHODS:In a period of 8 years 11 patients underwent a percutaneous endoscopic gastrostomy (PEG), 4 males and 7 females, in the median 14,9 years of ag...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2001-18460
更新日期:2001-11-01 00:00:00
abstract:BACKGROUND:Peripheral schwannomas and pilomatrixoma are rare clinical features in childhood. The concomitant presence of these tumors in childhood are not described yet. PATIENTS:We describe the first case of a concomitant peripheral benign schwannoma and pilomatrixoma located at the head in a 10-year-old female patie...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-816279
更新日期:2005-01-01 00:00:00
abstract::While many aspects related to the etiology and pathogenesis of sudden infant death remain unclear, the ultimate trigger event appears to be an acute regulatory disturbance of the cardiorespiratory neurons of the reticular formation of the brain stem. Retrospective studies have demonstrated that SIDS often occurs after...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025334
更新日期:1992-03-01 00:00:00
abstract::The diagnosis of HFI is easily missed during childhood. It should be suspected in children presenting with hepatomegaly and an isolated increase in GGT. A carefully taken nutritional history forms the basis of the diagnosis of HFI which can be confirmed by molecular analysis with a sensitivity of > 95%. I.v. fructose ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract::The oscillatory resistance to respiration (Ros) was measured in 218 children and 260 adults using the Siregnost FD5 (Siemens, Erlangen), and compared with whole body plethysmography (Raw) and with spirometry. There was a markedly better correlation between Ros and Raw (r=0.82;n=88) in children than in adults (r=0.53;n...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034434
更新日期:1981-03-01 00:00:00
abstract::We identified betulinic acid (BetA) as a new cytotoxic agent active against neuroectodermal tumor cells including neuroblastoma, medulloblastoma, glioblastoma and Ewing's sarcoma cells representing the most common solid tumors of childhood. BetA induced apoptosis independent of wild-type p53 protein and accumulation o...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043808
更新日期:1999-07-01 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::The lipodystrophy syndromes are rare disorders characterized by the loss of adipose tissue. The loss of fat tissue can have genetic, immune, or infectious/drug-associated causes. With the extent of fat loss metabolic complications, such as insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver in...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2002-30142
更新日期:2002-05-01 00:00:00
abstract::A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-11-01 00:00:00