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 increase in severity. Lipodystrophies can be divided into two subtypes: familial and acquired. Causative mutations have recently been identified in one form of familial lipodystrophy as well as in one form of acquired lipodystrophy. Several mouse models might help understanding the development of these syndrome. In this review article, the recently introduced classification of lipodystrophy syndromes is presented as well as new insights into pathogenesis and therapeutic strategies.
journal_name
Klin Padiatrjournal_title
Klinische Padiatrieauthors
Fischer-Posovszky P,Debatin KM,Wabitsch Mdoi
10.1055/s-2002-30142keywords:
subject
Has Abstractpub_date
2002-05-01 00:00:00pages
99-103issue
3eissn
0300-8630issn
1439-3824journal_volume
214pub_type
杂志文章,评审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::The following paper is the manuscript of an oral presentation during the annual GPOH meeting on May 22nd, 2000 in Berlin. Following her experiences as a member of the psychosocial care team of a children's cancer unit the author discusses the emotional impact of stemcell or bone marrow transplantation in children. Psy...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-2001-16857
更新日期:2001-07-01 00:00:00
abstract::Wegener's granulomatosis is together with Churg-Strauss syndrome and microscopic polyangiitis a very rare cause of hemoptysis in childhood. We report on a 14 years old girl who developed arthralgia, purpura, glomerulonephritis and a diffuse alveolar haemorrhage with hemoptysis after a short time period of unspecific s...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2005-836847
更新日期:2006-01-01 00:00:00
abstract::The influence of a single intravenous infusion of triglycerides (1 g triglyceride per kg body weight) on the acid base equilibrium was investigated in 16 newborn infants with low birth weight during the first days of age. No changes of pH, PCO2 and standard bicarbonate, base excess, buffer base and actuelle bicarbonat...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1975-09-01 00:00:00
abstract::We analyzed episodes of peritonitis and/or sepsis associated with the idiopathic nephrotic syndrome (ns) in 23 children treated between 1975 and 1985 at our clinic. 37.5% of the children with infantile ns, 16% of those with steroidsensible ns, and 13.6% of those with steroidresistant ns developed peritonitis. Children...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033683
更新日期:1988-01-01 00:00:00
abstract::Internal hydrocephalus follows intraventricular hemorrhage in about 10%. Progression is directly related to the degree of hemorrhage. Several studies confirmed that cerebral damage may occur without an increase of intracranial pressure or head circumference. Assessment and therapeutic consequences depend entirely on s...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1033725
更新日期:1988-07-01 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:BACKGROUND:Up to now, no German language test for children has been controlled for diagnostic accuracy. Therefore the application of language tests in clinical diagnostics is limited. The aim of the study was to determine the diagnostic validity of the SBE-3-KT, a parent questionnaire for identification of children wit...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1267156
更新日期:2010-12-01 00:00:00
abstract::The normal values of the LH and FSH excretion in 12-h-overnight-urine-samples were measured by the commercial technique for the estimation of LH (Luteonosticon) and FSH (FSH-nosticon). These methods were used to determine the hormone excretion of these hormones in healthy individuals, 94 boys (0-18 years) and 48 girls...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1978-07-01 00:00:00
abstract:BACKGROUND:Disproportionate short stature may impair the quality of life (QoL) of patients and their families. This study aimed to evaluate a self-help supported counseling concept to increase the QoL of the participants. METHODS:QoL data from 58 children/adolescents (8-17 years) with a diagnosis of achondroplasia was...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0035-1564106
更新日期:2016-01-01 00:00:00
abstract::A severe hyperammonemia is the characteristic finding in patients with enzyme defects in urea cycle and one of the main causes of the acute metabolic crisis dsuring the newborn period and infancy. A case report is given about two male infants, who died in the age of one and of seven months respectively. In the second ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1035594
更新日期:1980-05-01 00:00:00
abstract::Interdisciplinary cooperation and networking determine the success of activities for supporting families at risk for early childhood abuse. The integration of the healthcare sector might be important.The medical standard of perinatal care at the University hospital includes information exchange about family risk facto...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0034-1374603
更新日期:2014-07-01 00:00:00
abstract::Ten to fifteen percent of infants of myasthenic mothers develop neonatal myasthenia independent of the severity of the maternal disease. The antiacetylcholin receptor-protein antibodytiter (AChR-AK) was followed through the first twelve months in a boy who's mother suffered from myasthenia gravis (M.G.) since twelve y...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034089
更新日期:1984-09-01 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::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: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::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::Hypotension is diagnosed in a high percentage of very low birth weight infants, particularly in the first 24 hours after birth and the resultant clinical approach is to support the blood pressure vigorously. However, the research base is not yet available to give a definite answer to the question, which blood pressure...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2003-36890
更新日期:2003-01-01 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:BACKGROUND:The survival of infants born with esophageal atresia (EA) is > 90% at present. The purpose of this study was to evaluate early complications and long term outcome in children with EA treated at our institution. METHODS AND PATIENTS:Retrospective analysis of 111 children with EA undergoing repair of EA or tr...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0030-1249610
更新日期:2010-09-01 00:00:00
abstract::The GPOH-MAHO trials designed in 3/82 and 7/88 for treatment of childhood testicular germ cell tumors registered 3/92 105 pts. In MAHO 82 study 57 pts. and in MAHO 88 study 48 pts. were treated. Histologically 60% of the tumors revealed yolk sac tumors (YST), 22% teratomas (TD) and 18% malignant teratomas (MTI, MTU, M...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2007-1025231
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Alcoholism during pregnancy is one of the most common factors in western societies causing persisting congenital and multiple physical as well as neurological impairments. Finding the diagnosis at first sight puts medical professionals into a demanding situation. Therefore the objective of this study was to ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-0031-1299682
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND:Current resuscitation guidelines recommend the use of simulation-based medical education (SBME) as an instructional methodology to improve patient safety and health. We sought to investigate the evidence-base for the effectiveness of SBME for neonatal and pediatric resuscitation training. METHOD:Therefore, ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1372621
更新日期:2014-09-01 00:00:00
abstract::The aetiology and pathogenesis of the Duchenne-type muscular dystrophy (pseudohypertrophic muscular dystrophy) are still largely unknown. The possibilities of treating the disease are rather limited. Treatment is the more successful, the earlier diagnosis was possible, and the earlier treatment is initiated. The CK-Sc...
journal_title:Klinische Padiatrie
pub_type: 杂志文章,评审
doi:
更新日期:1978-11-01 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::Pre- and retrorenal growing neuroblastomas did not produce any displacement of the kidney or any obstruction in the intravenous pyelogram. The diagnosis was done by ultrasound-scanning as well as biochemically before surgery. The reported cases show that sonography and determination of the catecholamine metabolites ar...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1034041
更新日期:1983-01-01 00:00:00
abstract:BACKGROUND:Flank swelling and pseudotumors of the kidney are unusual manifestations of obstructive uropathies in small children. Our case illustrates typical problems and briefly reviews management options. CASE REPORT:A 5-week-old boy presented with a large, palpable urinoma due to posterior urethral valves. Sonograp...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2006-933545
更新日期:2006-09-01 00:00:00
abstract::A case of true hermaphroditism was described. The patient had an uterus, a fallopian tube, a testide on the left in the position of the ovary and an ovary on the right side. The chromosome picture corresponded to a 47, XXY/46, XX/46 XXY mosaic. The phenotype of the patient was male so the decision for male sex seemed ...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:
更新日期:1976-09-01 00:00:00
abstract::Low birth weight babies and sick full-term babies, who require total parenteral nutrition and repeated intravenous applications of drugs, which irritate peripheral veins, very often need a reliable central venous catheter. The aim of our paper was to study prospectively the efficiency and the complications of peripher...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1046574
更新日期:1994-01-01 00:00:00
abstract::Severe anaphylactic reactions were observed in 2 children, aged 2 and 14 years, with acute lymphocytic leukemia and a 12 month old infant with a functional T-cell defect after intravenous administration of a polyethyleneglycol (PEG)-treated immunoglobulin preparation. All 3 children suffered additionally from hypogamm...
journal_title:Klinische Padiatrie
pub_type: 杂志文章
doi:10.1055/s-2008-1026802
更新日期:1987-07-01 00:00:00