Abstract:
:Severe combined immunodeficiency (SCID) is a heterogeneous group of congenital diseases characterized by their presentation with life threatening infections in the first months of life. The clinical presentation and the therapeutic outcome is influenced by multiple factors: the genetic defect, infectious complications, the presence of maternal T cells the development of Omenn syndrome, as well as non-immunological signs and symptoms of the disease. Hematopoietic stem cell transplantation (HSCT) to date is the only established curative option and allows long-term cure of the disease. Therapeutic objectives of HSCT in SCID clearly differ from those in malignant or hematological disease. Disease specific aspects and their influence on the therapeutic strategy in SCID will be discussed in this review.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Hönig M,Schulz A,Friedrich Wdoi
10.1055/s-0031-1287826subject
Has Abstractpub_date
2011-11-01 00:00:00pages
320-5issue
6eissn
0300-8630issn
1439-3824journal_volume
223pub_type
杂志文章,评审abstract::Report of a case with congenital right sided intrapericardial diaphragmatic hernia. This type of a congenital diaphragmatic hernia occurs only rarely. Until 1984 30 cases are recorded in the available literature. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033888
更新日期:1986-07-01 00:00:00
abstract::Objective: Toilet refusal syndrome (TRS) is a common disorder in toddlers, defined by use of diapers and refusal of toilet for defecation, while toilet phobia (TP) is a rare disorder in which toilets are avoided completely. Both disorders have not been described systematically in children, yet. Therefore, the aim was ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0042-121607
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:The risk of severe complications or death during the initial period of acute leukemia was markedly decreased due to the progress in pediatric oncology and use of simple measures like hyperhydration, forced diuresis, treatment of hyperuricemia, correction of electrolyte and coagulation disturbances and the ca...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0029-1239533
更新日期:2009-11-01 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::Since 1987, the authors have examined 186 patients (76 girls, 110 boys) with a variety of congenital and acquired heart diseases by means of magnetic resonance imaging (MRI). The patients' ages ranged from 2 days to 20 years (mean age 3.97 years). During the study new techniques were developed, which extend the applic...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025369
更新日期:1992-09-01 00:00:00
abstract::Possibilities of recognizing cerebral function disturbances in newborns as early as the acute phase of the condition, and of prognosticating permanent brain damage are described. Clinical findings such as lethargy or spasms in the second and third weeks of life following hypoxia indicate severe function disturbances w...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1034092
更新日期:1984-11-01 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::Analysis of the cellular DNA content was carried out in 162 children with ALL and 34 children with AML admitted to the university children's hospital Münster between 1979 and 1984. DNA aneuploidies were identified at a similar frequency in ALL (40%) and AML (44%). However, the degree of DNA aneuploidies (DNA-index) wa...
journal_title:Klinische Padiatrie
pub_type: 临床试验,杂志文章
doi:10.1055/s-2008-1033972
更新日期:1985-05-01 00:00:00
abstract::Prolactin levels were measured immediately after the seizure in some, and 15 to 20 minutes later in all of 67 children aged between 6 months and 17 years. Values were determined after grand mal, complex partial and petit mal seizures and psychogen seizures. A more than 2 to 3 fold prolactin increase over the baseline ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025341
更新日期:1992-05-01 00:00:00
abstract::We studied the influence of preload augmentation on Doppler-derived left ventricular diastolic function parameters in infants with a birth weight <1500 g. In 44 neonates with a closed duct and 29 neonates with an open ductus arteriosus a complete echocardiographic study including Doppler investigations of the mitral i...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2004-817684
更新日期:2004-01-01 00:00:00
abstract::Important polymorphonuclear leukocyte (PMN) functions are dependent on an intact cytoskeleton, consistent of the microtubulus and microfilament system. This can be assayed from the mobility of fluorescence labelled Concanavalin A (Con A) receptor complexes on the cell surface. Con A shows an uniform surface distributi...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034392
更新日期:1983-09-01 00:00:00
abstract::The observation of constitutional chromosome abnormalities in a one and half year old boy with Wiedemann-Beckwith syndrome (WBS) and hepatoblastoma prompted us to review the currently available literature dealing with this subject. In approximately 500 published cases with complete and incomplete forms of WBS, 42 mali...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026804
更新日期:1987-07-01 00:00:00
abstract::While leadpoisoning has been with mankind since the dawn of civilization, only in recent years this disease was recognized as a serious public health problem. It has been estimated that more than half a million children are suffering from lead intoxication in the U.S.A. In most instances this disease is caused by eati...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-09-01 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::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::The presented paper includes the medical records of five children with familial adenomatous polyposis coli on the one hand and the detailed description of the pathologic findings of the disease on the other hand. Particular emphasis is given to the morphologic criteria of the disorder predisposing the affected individ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033975
更新日期:1985-05-01 00:00:00
abstract:BACKGROUND:Intracellular antibodies (intrabodies) have been used for the generation of phenotypic knockouts in vivo by surface depletion of extracellular or transmembrane proteins. Intrabodies present an alternative to methods of gene inactivation that target genomic DNA or m-RNA, such as RNA interference. Several stud...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,收录出版
doi:10.1055/s-2006-933415
更新日期:2006-05-01 00:00:00
abstract::A two month old boy with Fournier's Gangrene of the scrotum as a result of unnecessary needle puncture of the hydrocele is being reported. The importance of appropriate diagnosis operation and drug-therapy is also described. ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034104
更新日期:1984-11-01 00:00:00
abstract::Growing teratoma is still an often unsolved problem especially in male with mixed malignant GCTs of the testis or the mediastinum. This specific situation with progressive tumor growth and simultaneous normalization of tumor markers during or after treatment of malignant GCTs with teratomatous elements is judged as a ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0029-1220738
更新日期:2009-05-01 00:00:00
abstract::A congenital diverticulum of the ventricle is a very rare cardiac lesion which is almost always associated with additional cardiovascular anomalies. In the majority of cases a diverticulum of the heart has been diagnosed during cardiac catheterization for evaluation of additional cardiovascular anomalies. We report no...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025221
更新日期:1993-05-01 00:00:00
abstract::Report of accidental ingestion and aspiration of lamp oil of a boy aged 16 months. He develops in a few hours a severe pneumonitis with tachycardia. Echocardiography shows diminished contractability. After losing his symptoms, the chest x-rays on the 13th day show bilateral pneumatoceles. The course remains asymptomat...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1043916
更新日期:1998-11-01 00:00:00
abstract:BACKGROUND:In the German guidelines for prophylaxis of group B streptococcal (GBS) early onset sepsis in neonates (EOS), GBS screening of all pregnant women has been recommended, but is not yet included in the Maternity Directives. Aim of the study was to identify temporal trends in incidence of EOS and their associati...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/a-1202-1758
更新日期:2021-01-01 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::We report the first case of non-immune hydrops fetalis (NIHF) with trisomy 15q11/17q22.5 resulting from a familial translocation 15/17. Furthermore the cytogenetic findings of 50 cases with hydrops fetalis are presented. Of the 30 cytogenetic analyzable cases 7 showed chromosomal abnormalities (4x45,X; 2x47,XY,+21; 1x...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026810
更新日期:1987-07-01 00:00:00
abstract:BACKGROUND:Transumbilical laparoscopic-assisted appendectomy (TULAA) is fast and cost-effective since no endoloops, staplers or wound protection devices are used. We analyzed the effects of TULAA as first approach for perforated (PA) and non-perforated (NPA) appendicitis in children. PATIENTS:We performed a retrospect...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0044-101622
更新日期:2018-07-01 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::Oxygen saturation was determined non-invasively with the oxygenmet pulse wave oximeter 1471 and at the same time with the invasive reflectometric method. The determinations were carried out on 49 children (males = 24, females = 25) during 52 catherizations of the heart. Among these children aged between one week and 1...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034484
更新日期:1981-07-01 00:00:00
abstract::This is a case-report about a 4 year old boy with "cherry red" epiglottis, purulent meningitis and pleuropneumonia. Purulent meningitis and pleuropneumonia are not complications of treatment of "cherry red" epiglottis but an entity caused by Hemophilus influenzae-infection and is called Kleinschmidt's syndrome (Hemoph...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-07-01 00:00:00
abstract::The pros and cons of home monitoring especially for premature infants with continuing apneic episodes and/or chronic lung disease are an ongoing discussion. The controversy spans socio-economic requirements, medical indication as well as patient and family needs. Here, the costs of home monitoring and follow-up care o...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1395663
更新日期:2015-03-01 00:00:00
abstract::The increasing importance of radiotherapy in tumor of childhood demands the investigation and consideration of the psychological aspects of this afflicting therapy. In this paper the results obtained by questioning and observing 28 children of different ages, their parents, attendants and employees of several radiolog...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034457
更新日期:1981-05-01 00:00:00