Abstract：
:Lysosomal diseases are a group of about 30 genetic defects with a total incidence of 3 to 4 cases/10,000 newborns. Their clinical appearance is very heterogeneous and comprises infantile, as well as juvenile or adult forms. Our concept for their diagnosis has now been in use for eight years and entails the following strategy: The three main symptom groups coarse facial features, visceromegaly and/or psychomotor retardation should be examined for their typical expression and for the occurrence of specific "key symptoms". Thereafter, biochemical analysis of urine for oligosaccharides, mucopolysaccharides and in some cases, of sphingolipids or direct enzyme assays in serum, peripheral leucocytes or skin fibroblasts are performed. The selection of appropriate methods is usually the domain of the biochemist and greatly depends on the available samples and the quality of clinical information. The diagnostic value and the limitations of methods and samples are discussed in detail. Finally, evidence of defects in the expression of relevant gene products, such as enzymes, activator proteins or transport proteins can be obtained and used for genetic counselling and/or for prenatal diagnosis in chorionic villi or cultured amniotic fluid cells. Our results confirm the data on the high incidence of mucopolysaccharidoses I and III A. In addition, a comparatively high number of otherwise rare diseases, such as fucosidosis or sialic acid storage disease was found. Among the group of sphingolipidoses, special attention should be paid to juvenile or adult forms.
journal_name
Wien Klin Wochenschrjournal_title
Wiener klinische Wochenschriftauthors
Paschke E,Stöckler Ssubject
Has Abstractpub_date
1992-01-01 00:00:00pages
658-64issue
21eissn
0043-5325issn
1613-7671journal_volume
104pub_type
杂志文章,评审abstract：:Amiodarone has been shown to improve survival in patients with impaired left ventricular function and ventricular trachyarrhythmias. The clinical applicability, however, is limited by numerous often serious adverse effects. 70 patients receiving the treatment with amiodarone for ventricular tacharrhythmias were invest...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:The present study reports the therapeutic results obtained by using neodym-YAG laser for the coagulation of tumours of the external genitals (n = 30), as well as for endoscopic laser treatment of tumours of the bladder (n = 32) and the urethra (n = 2). Despite the small number of cases, laser treatment of bladder tumo...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1984-01-20 00:00:00
abstract：INTRODUCTION:The assessment of HER2/neu overexpression in tissue provides information about one of the most relevant prognostic and predictive markers in breast cancer: overexpression of HER2/neu is associated with worse prognosis in primary breast cancer. Since core needle biopsy is increasingly used for the diagnosis...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/BF03040420
更新日期：2004-01-31 00:00:00
abstract：:A case of aneurysm of the abdominal aorta is presented. The clinical picture was suggestive of a pancreatic cyst, but the correct diagnosis was made on abdominal ultrasonography. Early diagnosis of the condition allowed removal of the aneurysm and implantation of a femoral by-pass. The value of ultrasonography in diag...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1979-01-05 00:00:00
abstract：:The labelling of blood cells in vitro for subsequent in vivo studies was one of the earliest applications of radioactive tracers in clinical medicine and laid the foundations for many important contributions to the advancement of knowledge of human blood cell pathophysiology. The characteristics required for satisfact...
journal_title：Wiener klinische Wochenschrift
pub_type： 历史文章,杂志文章
doi：
更新日期：1984-02-03 00:00:00
abstract：:Madelung's disease, or multiple symmetric lipomatosis, is an extremely rare disease and very likely to be under-diagnosed. It is characterized by multiple symmetrical non-encapsulated fat accumulations mainly located around the neck, shoulders, upper extremities and upper parts of the trunk. The disorder predominantly...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-011-0045-5
更新日期：2012-03-01 00:00:00
abstract：:33 kidney tumours were detected in 15,500 routine scans of the upper abdomen. 13.7 per cent of these tumours were asymptomatic at the time of diagnosis. The size of these accidentally detected tumours was evidently smaller than in the case of symptomatic ones and the patients were younger at the time of diagnosis. The...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1987-12-18 00:00:00
abstract：:Diabetes mellitus causes diabetic retinopathy, diabetic macular edema, optic neuropathy, cataract or dysfunction of the eye muscles. The incidence of these defects correlates with disease duration and quality of the metabolic control. The recommendations of the Austrian Diabetes Association for the diagnosis, the ther...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-012-0272-4
更新日期：2012-12-01 00:00:00
abstract：:Epidemiological studies strongly imply that smoking is a risk factor for back problems. The question arises as to the nature of the underlying pathomechanism. Several theories are currently discussed in the literature: it could be due to "unhealthy" life styles associated with smoking, to a rise in intraabdominal pres...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,评审
doi：
更新日期：1992-01-01 00:00:00
abstract：:Forensic complications involving criminal or civil law are generally rare in depressive disorders, but are of varied nature and of great consequence to the person concerned. Suicide, which is the problem of greatest practical importance may have far-reaching consequences with regard to legal insurance, apart from the ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1985-02-15 00:00:00
abstract：:Skin thickness was measured by means of ultrasound and correlated with the results of bone densitometry and hormonal parameters. Skin thickness and bone density were significantly correlated (p < 0.0001). These results indicated that not only bone, but also skin is a hormone-dependent organ, which responds to the meno...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:Evidence demonstrates that medical diabetes treatment has to be accompanied by lifestyle modifications. Structured nutrition interventions and increased physical activity will help patients to normalise, respectively maintain their body weight. The main target of a diabetes therapy is aimed at achieving normal or near...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,评审
doi：10.1007/s00508-015-0926-0
更新日期：2016-04-01 00:00:00
abstract：:In a prospective study comprising 48 children (21 boys, 27 girls, age 12 months to 15 years) the hypothesis was tested whether an alteration in the light chain immunoglobulins kappa (kappa) and lambda (lambda) is an expression of autoimmune mechanisms and could be used as a diagnostic parameter. Immunoglobulins were a...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1990-04-13 00:00:00
abstract：:In part owing to an increasing use of high resolution imaging technologies a growing number of incidental pancreatic lesions are detected. A 40-year-old patient was admitted to our hospital to undergo resection for an unclear solid pancreatic tumor in the pancreatic tail. Preoperative imaging studies suspected an inac...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-011-1543-1
更新日期：2011-03-01 00:00:00
abstract：:A 66 year-old man with chronic renal failure developed hypercalcaemia during acetolyte medication. A technetium-99m phosphate bone scan at this time showed extraosseous isotope uptake in the stomach, which disappeared 2 weeks later after normalisation of the serum calcium level. This phenomenon can be interpreted as t...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1988-09-23 00:00:00
abstract：:Urinary neopterin, a sensitive marker for activation of cell mediated immunity, is compared to clinical and laboratory data in 5 patients with AIDS, in 15 patients with ARC and in 40 male subjects without AIDS-related clinical signs attending an AIDS outpatient clinic. The sensitivity of neopterin for AIDS-related dis...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1987-08-07 00:00:00
abstract：:Listeriosis is a rare disease with increasing incidence occurring mainly in elderly people and patients suffering from underlying diseases and immunosuppressive therapy. On the basis of three case reports and a review of the literature the most important aspects of epidemiology, pathogenesis, clinical manifestations, ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,评审
doi：10.1007/s00508-010-1385-2
更新日期：2010-06-01 00:00:00
abstract：:Infection with tick-borne spirochetes (e.g. Borrelia burgdorferi) may lead to the development of erythema chronicum migrans, acrodermatitis atrophicans, meningopolyneuritis Bannwarth, and a special type of reactive arthritis named Lyme disease after the American endemic area. Since these diseases occur also in Austria...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1984-11-23 00:00:00
abstract：:Gut ischemia-reperfusion injury is a serious condition in intensive care patients. Activation of immune cells within the huge endothelial surface area of gut microcirculation may initiate a systemic inflammatory response with secondary injury to distant organs. Translocation of bacteria and toxins through a leaky gut ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,评审
doi：
更新日期：1999-07-30 00:00:00
abstract：BACKGROUND:Data on self-rated health (SRH) in patients with chronic obstructive pulmonary disease (COPD) are very limited; we therefore initiated this study to investigate the distribution of SRH and association with established parameters of disease severity. PATIENTS AND METHODS:We included 135 clinically stable pat...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-009-1170-2
更新日期：2009-01-01 00:00:00
abstract：BACKGROUND:Traumatic brain injury (TBI) is a frequent cause of mortality and acquired neurological impairment in children. It is hypothesized, that with the adequate treatment of SDH in children and adolescence, excellent clinical and functional outcomes can be achieved. The aim of this study was to present the severit...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-020-01648-3
更新日期：2020-09-01 00:00:00
abstract：:The retrospective analysis of 672 consecutive patients with breast cancer revealed malignant pleural effusion and lymphangitic carcinomatosis of the lung to be the sites of first relapse of the disease in only 2% and 1%, respectively. In half of the 10 patients with malignant pleural effusions evaluable for survival, ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
abstract：:This study was undertaken to determine how amniotomy performed during different phases of delivery affects mother and child. 1504 out of 4770 birth recorded during one year at the University Department of Obstetrics and Gynaecology in Graz were analyzed. None of these was associated with the presence of risk factors a...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1984-06-08 00:00:00
abstract：BACKGROUND:Osteoarthritis (OA) of the hip is a frequent and debilitating joint disease. Only few clinical risk factors for hip OA are established and clinically applicable biomarkers to identify patients at risk are still lacking. The glycoprotein vascular cell adhesion molecule 1 (VCAM-1) is expressed by chondrocytes ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-019-1497-2
更新日期：2019-08-01 00:00:00
abstract：:Diphyllobothriosis is infestation with the fish tapeworm. Although the worldwide incidence has decreased in recent decades, increased travel and the new popularity of dishes involving raw fish (e.g. sushi) may provide a higher risk of infestation in formerly low-risk areas. We report an Austrian fisherman who passed a...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-005-0463-3
更新日期：2005-11-01 00:00:00
abstract：:Lung cancer is the most frequent cause of death from cancer in men. In addition its prevalence among women is currently rapidly increasing. Main risk factors are smoking, exposure to asbestos and genetic factors. Current screening methods do not allow early detection and, hence, lung cancer is usually diagnosed at an ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,评审
doi：
更新日期：1994-01-01 00:00:00
abstract：:Following cochlear implantation, postoperative imaging of the electrode is very important in order to measure the depth of insertion and the position of the electrode, so that kinking and incorrect electrode placement can be clearly identified. The aim of this study was to outline the diagnostic value of CT and conven...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：2000-06-02 00:00:00
abstract：:We report on a 64-year-old patient with a recurrent endometrial carcinoma which was associated with disseminated intravascular coagulation (DIC) and excessive hyperfibrinolysis. The patient presented with severe bleeding due to hypofibrinogenemia. Fibrin degradation products were excessively elevated and there were al...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1998-01-30 00:00:00
abstract：:The results obtained by closest cooperation between gynaecologist and andrologist in the treatment of sterile marriages are reported. 127 couples were treated over a period of 20 months. Almost 100% of the males and 60% of the females were sub- or infertile. Treatment of both partners was meticulously coordinated in o...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1980-05-09 00:00:00
abstract：:The Poison Control Centre in Vienna registered 4018 inquires regarding possible poisoning in children over a two-year period. The peak incidence occurred in the age group between 2 and 3 years and poisoning chiefly took place in the mornings and in the afternoons, the most frequently ingested substances being househol...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1978-01-06 00:00:00
