Abstract：
:Multiple endocrine neoplasia type 1 (MEN1) is a rare cancer predisposition syndrome. It results from the autosomal dominant inheritance of inactivating germ-line mutations of the MEN1 tumor suppressor gene. Mutation carriers are prone to develop tumors, preferentially, of the parathyroid and anterior pituitary glands as well as the enteropancreatic endocrine tissues. Because such tumors also occur without the MEN1 context, we have set up a molecular genetic screening program in Austria to discriminate between heritable and non-heritable tumor forms. Following the recognition of a MEN1-specific germ-line mutation in a tumor patient, we extend the screening to all first-degree relatives. To date, we have studied 42 individuals by sequencing the coding exons 2 to 10 of the MEN1 gene. A germ-line mutation was discovered in four of seven families suspected, clinically, to have MEN1, and in 3 of 22 (13.6%) patients with a presumed sporadic endocrine tumor. The respective mutations were also detected in three first-degree relatives of whom only one 6-year-old boy was asymptomatic at the time of investigation. The possibility to clearly discriminate between genetically predisposed and non-predisposed individuals has a significant impact on the diagnosis and clinical management of both patients and their relatives. Both symptomatic and asymptomatic mutation carriers can be closely monitored, thereby allowing early recognition and treatment of developing tumors. Non-affected relatives, on the other hand, do not require further controls. Finally, this approach also provides the information necessary for reliable genetic counseling.
journal_name
Wien Klin Wochenschrjournal_title
Wiener klinische Wochenschriftauthors
Weinhäusel A,Kaserer K,Vierhapper H,Niederle B,Haas OA,Study Group of Multiple Endocrine Neoplasia Austria.subject
Has Abstractpub_date
2002-04-15 00:00:00pages
252-7issue
7eissn
0043-5325issn
1613-7671journal_volume
114pub_type
杂志文章abstract：:Confidence is the major prerequisite for a doctor to be able to help his seriously ill patient. The patient's expectations of this confidence are: the doctor will not act without the patient's consent and the doctor will not undertake any measure to shorten the patient's life. The patient is strengthened in this confi...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1990-10-12 00:00:00
abstract：:Acute myocardial infarction induces an inflammatory reaction. We related conventional inflammatory parameters including C-reactive protein, erythrocyte sedimentation rate, white blood cell count and axillary temperature to plasma concentrations of procalcitonin in patients with acute myocardial infarction. In a prospe...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：2002-03-28 00:00:00
abstract：:On the occasion of the centenary of Prof. Dr. W. Denk's birth, a short survey is given of the advances in the surgical management of fractures in the region of the hip joint in the post-Denk era. It was Denk who encouraged his colleagues to undertake the first nailing of a collum femoris fracture according to Smith-Pe...
journal_title：Wiener klinische Wochenschrift
pub_type： 历史文章,杂志文章
doi：
更新日期：1982-04-02 00:00:00
abstract：:In the course of routine gastroduodenoscopic examination of 218 patients bioptic mucosal specimens were examined bacteriologically for the presence of Campylobacter (C.) pylori. The organism was isolated from 52 out of 53 patients (98%) with duodenal ulcer, 7 out of 9 with gastric ulcer (78%), 24 out of 31 with mucosa...
journal_title：Wiener klinische Wochenschrift
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1987-07-17 00:00:00
abstract：:Hans von Haberer (1875-1958) gained wide experience in the reconstructive surgery of traumatic aneurysms during the 1st world war at the Surgical Department of the University of Innsbruck. In the period 1914-1918 he operated on altogether 201 vascular aneurysms, mainly using a direct circular vascular suture. In 1914 ...
journal_title：Wiener klinische Wochenschrift
pub_type： 传,历史文章,杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:The endocrine management of advanced breast cancer is of great clinical importance. Apart from the known therapeutic approach with oestrogens, androgens, gestagens and steroids, the oestrogen antagonist, tamoxifen appears to be a promising therapeutic agent. In this study from October 1st, 1975, to October 1st, 1976, ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1978-02-17 00:00:00
abstract：AIMS:Comorbidities pose a major challenge to screening, selection and follow-up of transcatheter aortic valve implantation (TAVI) patients as well as to the procedure itself. The aim of the present study was to assess cardiac and non-cardiac readmission rates besides clinical endpoint data in the first 50 patients of a...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-011-0075-z
更新日期：2012-01-01 00:00:00
abstract：:The decrease in blood viscosity induced by streptokinase (SK) in the present investigation in proportional to the streptokinase concentration up to a concentration of 2000 IE/ml blood. A maximum decrease in viscosity is attained with a dosage of between 200 and 300 IE/ml blood. The decrease in viscosity is already cle...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1977-05-13 00:00:00
abstract：:Potent antituberculosis drugs and new endourological measures have changed the concept of management of urogenital tuberculosis. This paper presents a report on 56 patients treated with rifampicin, ethambutol and isoniazid for 1 year. Therapy was started in hospital and continued on an ambulatory basis. Reconstructive...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1988-09-09 00:00:00
abstract：BACKGROUND:B-type natriuretic peptide (BNP) plays a key role in the regulation of volume homeostasis, and elevated blood levels of BNP are associated with end-stage renal disease. Renal transplantation leads to a decrease of elevated BNP levels with established graft function. Assessment of N-terminal pro-BNP (NT-proBN...
journal_title：Wiener klinische Wochenschrift
pub_type： 临床试验,杂志文章
doi：10.1007/s00508-009-1248-x
更新日期：2009-01-01 00:00:00
abstract：:Insulin was radioiodinated with 123I (123I-tyrosine-(A14)-insulin) to a specific activity of 1 micrograms/mCi, corresponding to 0.025 I.U. of insulin/mCi. This preparation was used for in vitro binding experiments with adipose tissue, showing active binding to the two subunits of the known insulin receptor. In a preli...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1991-01-01 00:00:00
abstract：:Acute pandysautonomia is a rare disease defined as acute widespread and severe sympathetic and parasympathetic failure and sparing of somatic nerve fibers. The causes of this syndrome are often an autoimmune disease leading to autonomic ganglionopathy. The majority of cases have a poor prognosis with a chronic debilit...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-011-0030-z
更新日期：2011-08-01 00:00:00
abstract：:Postoperative acute renal insufficiency after cardiac surgery in neonates is associated with increased mortality and is usually treated (while using ECMO, extracorporeal membrane oxygenation) with hemofiltration. Renal support has to be continued after weaning from ECMO when oliguria persists. When using hemofiltratio...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：2002-08-30 00:00:00
abstract：BACKGROUND:Preoperative fasting is associated with various untoward postoperative health problems. Previous studies have stressed the advantages of preoperative feeding with a carbohydrate-rich drink 2 hours before surgery; this protocol does not increase the risk of gastric-content aspiration but reduces the level of ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00508-009-1301-9
更新日期：2010-01-01 00:00:00
abstract：:Titres of blood-group isoagglutinins and the serum concentration of immunoglobulins M and G were investigated in 388 inmates (89.7% females) of an old-age home, ranging in age from 78 to 99 years [mean (+/- s) = 85.7 years +/- 4.1 years]. Concentrations of isoagglutinins were positively correlated to the concentration...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1985-07-19 00:00:00
abstract：:97 chronic alcoholic patients were investigated with regard to exocrine pancreatic function. Chronic calcifying pancreatitis was radiologically established in 7.2% of the cases. Secretin-pancreozymin tests were performed in 30 patients. Pancreatic insufficiency was found in 8 patients, while 8 patients showed marked h...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1977-06-24 00:00:00
abstract：:The prevalence of antibodies to hepatitis A virus was measured by solid-phase radioimmunoassay in sera of 651 persons from Vienna, Lower Austria, Upper Austria, Carinthia and Burgenland. On subdivision of the subjects according to age groups, a curve resulted which showed a steep rise in persons between 20 and 40 year...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1979-03-30 00:00:00
abstract：:In nine patients with meconium peritonitis prenatal ultrasonographic findings were correlated with the clinical course and outcome. Ultrasound findings included polyhydramnion (n = 4), ascites (n = 4), disseminated (n = 3) and solitary echogenic areas (n = 1), echopoor cystic areas (n = 3) and echogenic-echopoor solit...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1995-01-01 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：:In central precocious puberty (CPP), characterised by premature but otherwise normal puberty, the early onset of the pubertal growth spurt with increased height velocity results in premature epiphyseal closure with reduced final height. We examined the growth pattern in 11 patients (9 girls and 2 boys) with CPP treate...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：OBJECTIVE AND METHODS:We performed a single center analysis of 60 adult patients (33 males and 27 females) with myelodysplastic syndromes (MDS) or secondary acute myeloid leukemia (AML) who underwent allogeneic hematopoietic stem cell transplantation (HCT) at our institution. RESULTS:Allogeneic stem cell in patients w...
journal_title：Wiener klinische Wochenschrift
pub_type： 临床试验,杂志文章
doi：10.1007/s00508-013-0449-5
更新日期：2014-01-01 00:00:00
abstract：:48 patients with nonseminomatous testicular tumours were treated between 1980 and 1984. 19 patients had bulky stage II c or disseminated disease; according the Royal Marsden staging classification 5 patients had stage II c, 2 patients III and 12 patients stage IV. The pT stage of the primary tumour showed no correlati...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1986-08-08 00:00:00
abstract：:A method is described for the purification of horse anti-human lymphocyte serum, whereby absorption of haemagglutinating antibodies was performed with human RBC ghosts. These ghosts were repeatedly used after desorption. Desorption was carried out in glycine-HCl buffer solution pH = 3,0. The advantages of this method ...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1977-05-13 00:00:00
abstract：OBJECTIVE:In this meta-analysis the authors evaluated the effectiveness of acupuncture in improving functional communication and language function in post-stroke aphasia (PSA) patients. METHODS:Data sources: MEDLINE, EMBASE, CENTRAL, AMED, SinoMed, CNKI, VIP, and Wanfang databases, ICTRP, ISRCTN, EUCTR, ClinicalTrials...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章,meta分析
doi：10.1007/s00508-019-1478-5
更新日期：2019-05-01 00:00:00
abstract：:Three patients among 107 operated on before 1985 according to Wilhelm's procedure for epicondylitis humero radialis showed no therapeutic response due to insufficient discission of the extensor carpi radialis brevis. We successfully used Garden's procedure at reoperation, with lengthening of the extensor carpi radiali...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1991-01-01 00:00:00
abstract：:Cervical re-exploration in persistent medullary thyroid cancer usually fails to normalize serum calcitonin levels, which is the most sensitive criterion of tumour-free status (2 out of 21 patients in our re-exploration series). Positive lymph nodes - even at an early tumour stage - seem much more important (postoperat...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1988-05-27 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
abstract：:Pompe disease is a storage disorder characterized by deficient or absent activity of the enzyme acid alpha-glucosidase. As a result of ineffective metabolism, glycogen accumulates in muscle tissues. Patients with a classic infantile-onset form present by the first few months of life with hypertrophic cardiomyopathy an...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：10.1007/s00508-013-0475-3
更新日期：2014-02-01 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：:This paper reports on a case of attempted suicide by the rare means of prolonged inhalation of fumes from heated mercury. The patient developed symptoms of acute intoxication over a period of 4 to 24 hours after the suicide attempt. This phase consisted of pulmonary, intestinal, psychopathological and neurological sig...
journal_title：Wiener klinische Wochenschrift
pub_type： 杂志文章
doi：
更新日期：1983-08-26 00:00:00
