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 clinical management of these patients are discussed.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Bittmann S,Wieczorek D,Stallmach T,Ulus Hdoi
10.1055/s-2004-832335keywords:
subject
Has Abstractpub_date
2005-09-01 00:00:00pages
300-3issue
5eissn
0300-8630issn
1439-3824journal_volume
217pub_type
杂志文章abstract::The Austrian Screening Program performed during the last 12 years 5,833.381 tests in 1,003.841 newborns to detect at last 10 different disorders. 225 cases were uncovered: 81 PKU, 1 Dihydropteridine-Reductase-Deficiency, 37 Hyperphenylalaninemias of long duration, 23 Galactosemias by Transferase deficiency, 6 by Kinas...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035649
更新日期:1980-11-01 00:00:00
abstract:UNLABELLED:Sickle cell disease is a chronic hematologic disease with variable but often severe systemic symptoms. In this report, we describe a 6-year-old boy presenting with acute bowel pseudo-obstruction. During this episode, previously undiagnosed sickle cell disease was discovered upon peripheral blood smear analys...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1389907
更新日期:2014-11-01 00:00:00
abstract::In our experience the prognosis of hematological relapse in patients with acute lymphatic leukemia treated according to the Pinkel programme is very bad. It may be a little better for patients in whom relapse occurred after the end of therapy and who were submitted to intensified cytostatic treatment. The chances for ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::A HPLC-method is described to determine the Pseudouridine/creatinine ratio in spontaneous urine samples in infancy and childhood. The urines of 74 healthy children between 1 and 18 years of age and of 231 children with different diseases were examined for this ratio, making 1097 measurements. 157 children suffered fro...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025295
更新日期:1989-05-01 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::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::Oncological diseases in children and adolescents represent a considerable burden for the children themselves and for their families. In order to position such concomitants of a life-threatening disease appropriately among the diagnostic options of psychosocial cancer care one is repeatedly confronted with the issue of...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-985872
更新日期:2007-11-01 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::The biologic behaviour of teratomas depends on various interdependent clinical and epidemiologic variables such as the age at diagnosis, sex, tumor site, histology which all correlate to different cytogenetic and molecular biologic aberrations. Thus, testicular teratomas of infancy are generally benign. Accordingly, p...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2006-942271
更新日期:2006-11-01 00:00:00
abstract::Hereditary Factor VII deficiency is one of the rare congenital coagulopathies. Prolonged prothrombin time (PT) with normal partial prothrombin time (PTT) may be an indicator for Factor VII deficiency. A family with hereditary heterozygous Factor VII deficiency is presented in whom no symptoms of a bleeding disorder we...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025388
更新日期:1992-11-01 00:00:00
abstract::The Thorax-Tube according to Matthys and its successful application in 18 premature and mature newborns and older children is described. The advantages of this new device are discussed. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1977-03-01 00:00:00
abstract::The control of severe infectious complications by preventive strategies, early diagnosis of infections and empiric broad-spectrum antibiotic therapy contributed to a marked improvement of survival in children with cancer over the last 20 years. This article overviews of the importance of prevention of infectious compl...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2001-17498
更新日期:2001-09-01 00:00:00
abstract::Corticosteroids for treatment or prevention of pulmonary disease are milestones in the management of preterm infants nowadays. Prenatal maternal administration as well as postnatal treatment of the mechanically ventilated preterm infant with bronchopulmonary dysplasia (BPD) are considered to be established concepts. H...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1043969
更新日期:1997-09-01 00:00:00
abstract::Since 1980, a growing number of pediatric patients with mutism following posterior fossa surgery have been recognized. This syndrome typically affects children and in rare cases young adults who become mute one or two days after tumor operation but do not show disturbances of consciousness or language comprehension. T...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043886
更新日期:1998-07-01 00:00:00
abstract:BACKGROUND: Despite a reduction in hospitalizations due to acute alcohol intoxication in minors, alcohol consumption among children and adolescents still presents an alarming social and clinical phenomenon. This is amplified by presumably more severe clinical symptoms of the alcohol intoxication in children and adoles...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-1186-2155
更新日期:2020-09-01 00:00:00
abstract::The synchronous occurrence of blasts of the lymphatic and myelogenous lineage in acute leukemia has been rarely observed. Reviewing individual case reports it is suggested that malignant transformation already starts at the level of the stem cell. We are reporting a case of a 13-year old boy who initially showed morph...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034453
更新日期:1981-05-01 00:00:00
abstract::Reliability and accuracy of the measured ventilatory and lung mechanical parameters of different diagnostic systems (SensorMedics 2600, Med-Science RDS 4500) and respiratory monitoring systems (BI-CORE CP-100, monitor of Babylog 8000) were investigated using a mechanical lung model. The accuracy of pressure and volume...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046597
更新日期:1994-05-01 00:00:00
abstract::Immunocompromised patients in pediatric hematology-oncology are faced with an increased risk of nosocomial infections (NI). The incidence of NI and the contribution of certain risk factors have not sufficiently been investigated in this population. It is therefore unknown how many NI are preventable through infection ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2001-17507
更新日期:2001-09-01 00:00:00
abstract:BACKGROUND:Surveys in USA and UK have shown inconsistencies between practice of sweat testing and guidelines of the National Committee for Clinical Laboratory Standards (NCCLS), which could increase the risk of false-positive and -negative results. To determine the current practice of sweat testing in German cystic fib...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-872458
更新日期:2007-03-01 00:00:00
abstract::Easier access to prenatal diagnostic procedures led to its widespread use as a screening measure. Hence, today it is more common for life-limiting illnesses to be diagnosed during fetal life. The concept of Advance Care Planning (ACP) provides a framework for caregivers, families and their multidisciplinary teams to a...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/a-1179-0530
更新日期:2020-09-01 00:00:00
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::With the advent of prenatal diagnosis and the feasibility of intrauterine treatment, non-immune hydrops fetalis (NHIF) is gaining increasing importance. 14 patients are reported 10 of whom having been diagnosed prenatally. 13 were born prematurely severe asphyxia being a frequent occurrence. 7 out of 14 infants surviv...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033984
更新日期:1985-07-01 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::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::Oral administration of zinc sulfate did not improve the clinical conditions in two patients with Ehlers-Danlos-Syndrome type I. Zinc levels in serum and hair were normal before and during treatment. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1979-11-01 00:00:00
abstract:BACKGROUND:Lupus vulgaris (LV) is the most common form of cutaneous tuberculosis (TB) in Europe, nevertheless the overall incidence is low. It constitutes about 1.5% of all extra-pulmonary cases worldwide. A slight raise in TB incidence rates among children was recently registered in Germany, which can be explained by ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1343412
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:The medical care of pediatric cancer patients in the German health care system relies on special structures. All children and adolescents with a diagnosis of cancer receive uniform treatment within clinical studies or registers and exclusively at centers which can ensure interdisciplinary care by a multiprof...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-1158-9341
更新日期:2020-11-01 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::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:BACKGROUND:Drug handling in paediatric intensive care units (PICU) is prone to medication errors. We aimed to identify type and prevalence of those errors and to assess preventative interventions. METHODS:Prospective intervention study investigating a 3-step intervention for preventing errors in drug handling in a 10-...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0033-1364030
更新日期:2014-04-01 00:00:00