Abstract：
:Around 25% of medullary thyroid carcinoma (MTC) cases are familial and follow an autosomal dominant mode of inheritance. In these cases, MTC is part of an inherited cancer syndrome that has three distinct forms: MEN2A, MEN2B and familial MTC (FMTC). MEN2A is the most frequent syndrome, followed by FMTC and MEN2B. In 95% of MEN2A families and 85% of FMTC families, the germ-line missense mutations underlying the disease affect one of the five cysteine codons of the extracellular domain of the RET proto-oncogene. The mutated codons are 609, 611, 618 and 620 in exon 10, and 634 in exon 11. The most frequent mutations (80% in MEN2A, and 50% in FMTC) occur in codon 634. In our laboratory, the mutations of the codon 634 was detected by two independent methods: DNA sequencing and restriction fragment length polymorphism with polymerase chain reaction (PCR-RFLP). We have so far examined 105 persons at risk and found 19 positive cases. A positive genetic diagnosis allows preventive thyroidectomy, with a resultant cause-specific survival similar to that for the general population. In the event of a negative result, the family members of the affected proband are relieved of the physical and emotional consequences of the disease and the follow-up procedures. We plan to screen all 240 known Hungarian MTC patients and their relatives.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Klein I,Homolya V,Váradi A,Esik Osubject
Has Abstractpub_date
1999-12-05 00:00:00pages
2739-46issue
49eissn
0030-6002issn
1788-6120journal_volume
140pub_type
杂志文章相关文献
ORVOSI HETILAP文献大全abstract：:In autoimmune diseases, such as type I diabetes mellitus, systemic autoimmune diseases and the early phase of rheumatoid arthritis, before the development of a definitive disease, clinical and laboratory alterations can be observed. Being aware of these symptoms is crucial both for family practitioners and specialists...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2007.28031
更新日期：2007-04-08 00:00:00
abstract：:Decreased first-phase secretion of insulin may play a role in the development of insulin resistance. In the development of type 2 diabetes an abnormal function of the beta-cells and insulin resistance of liver, fat cells and muscle play the main role. An early sign of beta-cell damage can be the loss of first-phase in...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：2004-11-07 00:00:00
abstract：:The susceptibility of women to autoimmune diseases is well-documented, of which systemic lupus erythematosus (SLE) is especially important. The use of oral contraceptives often activate SLE from a quiescent condition. The inductive effect of estrogen has been shown in animal studies indicating that female hormones c...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1987-12-20 00:00:00
abstract：:Polymyositis-dermatomyositis is a rare systemic autoimmune disease which belongs to the class of idiopathic inflammatory myopathies. The disease exhibits high inter-individual variability, but chronic myositis is a common feature. As different manifestations often appear in atypical forms, establishing the precise dia...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2012.29300
更新日期：2012-03-25 00:00:00
abstract：:Nicolau syndrome is a rare complication, which occurs after intramuscular injections of various drugs, particularly antirheumatic drugs. During one year, the authors observed this syndrome in three patients, who had received intramuscular injections of Ketazon. The aetiology of the syndrome is not yet known, but it is...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1990-05-27 00:00:00
abstract：:The regional cerebral perfusion has been studied by [15O]-butanol PET in bradykinetic patients with Parkinson's disease. In comparison with the rest condition significantly higher perfusion was detected in the primary sensorimotor cortex, parietal cortex, premotor cortex and supplementary motor area. A decrease of act...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2002-05-26 00:00:00
abstract：UNLABELLED:Transplant patients' attitudes and representations related to their illness, their body, and the healing process have a significant impact on their recovery. AIMS:The study involved 51 patients from the Department of Surgery, University of Szeged, Hungary. The primary aim was to examine the possible connect...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2012.29327
更新日期：2012-04-15 00:00:00
abstract：:Over recent years the clinical importance of invasive fungal infections has significantly increased. Mucormycosis refers to a rare, life threatening, opportunistic disease caused by filamentous fungi of the order Mucorales. Most frequently mucormycosis occurs in patients with ketoacidotic diabetes and in neutropenic p...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2004-12-12 00:00:00
abstract：:Critical-care physicians are facing a challenging process in healthcare due to the overwhelming case number of hypoxic respiratory failure patients. Pneumonia has an utmost importance in the primary pathomechanism of the development of critical illness in the COVID-19 patients. Thus, imaging techniques are situated in...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/650.2020.31814
更新日期：2020-04-01 00:00:00
abstract：INTRODUCTION:It is an accepted fact that the local recurrence rate can be decreased up to 50% for the metastatic rectum tumours irradiated only preoperatively. MATERIALS AND METHODS:181 patients having rectum tumour were irradiated preoperatively with 36 or 40 Gy between 1990 and 2001. The classification was made acco...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2007.28045
更新日期：2007-09-02 00:00:00
abstract：:Recent knowledge concerning the etiology of habitual abortions is reviewed by the author. The anatomic, genetic, endocrine and immunologic causes furthermore the assumed role of maternal diseases and infections are summarised. Besides diagnostic procedures and therapeutic possibilities are discussed. ...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1993-11-28 00:00:00
abstract：:The clinical value of biplane transesophageal echocardiography (TEE) was assessed on basis of the experience of the first 100 cases. All studies were performed in awake patients, there was no complication or failure. There wee 43 males and 57 females, aged between 13 and 82 years. The indication of TEE was infective e...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1992-04-26 00:00:00
abstract：:The aim of the retrospective study was to analyse the frequency of polyps, anamnestic data and the result of histological examination overviewing 163 polyps which was find during 1900 hysteroscopy. In the history of patients dilatation and curettage was find in 22% one time and in 6.6% two times, but the polyps were r...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1999-09-12 00:00:00
abstract：:After a short overview of the history of probiotics, the author presents the development of human intestinal microflora based on the newest genetic data and the microbiological features of main probiotics. The indications of probiotic administration have been defined and extended in recent years. The author reviews si...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2013.29547
更新日期：2013-02-24 00:00:00
abstract：:The authors performed 3539 successful endoscopic retrograde cholangio-panreatographies between 1982 and 1992. In 1160 (32.7%) of the cases was revealed some kind of pathological condition. In connection with one case, following conventional cholecystectomy, a very rare complication was diagnosed by endoscopic means. T...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1994-11-27 00:00:00
abstract：:The endothelium is a major regulator of vascular tone, releasing vasoconstrictive (endothelin, cyclooxigenase-dependent factors, including prostanoids and oxygen free radicals) and vasodilating (endothelium--derived nitric oxid, endothelium--derived hyperpolarizing factor) mediators. These biologically active substanc...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：2001-08-05 00:00:00
abstract：:Recently, there has been much debate about pulmonary hypertension due to modern therapeutic options available. Arterial hypertension is frequently associated with stiffening of a given artery. The aim of the present review is to present clinical imaging methods for the evaluation of the function and stiffness of the p...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2013.29767
更新日期：2013-12-08 00:00:00
abstract：:We present a new, minimally invasive method for the treatment of nephroptosis. We are suggesting the more spreaded use of this method after the good results we found during the long term observation of our 40 patients with percutaneous nephropexy. ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1993-10-17 00:00:00
abstract：:The article summarises the statistical data of bone marrow transplantation (BMT) carried out in Hungary between 1990-1995 in yearly distribution. Since the first BMT up to the end of 1995, 168 BMT were performed. The number of transplantations since 1990 to our days was gradually increasing. As a result of this activi...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1996-10-06 00:00:00
abstract：:The effect of Vitamin E treatment was studied in experimental hyperlipidaemia. The male Wistar rats got control diet and parallel fat rich diet contained 2% cholesterol, 0.5% cholic acid and 20% sunflower oil added into LATI food during 9 days. The treated hyperlipidemic animals got vitamin E for 9 days in daily 8.56 ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1993-08-08 00:00:00
abstract：:Authors give a brief description of a case of adult polycystic disease of the lung which was diagnosed by chest X-ray, real-time abdominal ultrasound and fluoroscopy. ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1990-04-01 00:00:00
abstract：:Upon the request of the National Transplantation Committee a nationwide keratoplasty register is functioning at the Department of Ophtalmology, University Medical School of Debrecen. Since then at the end of each year we collected data from the University Departments and Hospitals performing corneal transplantation co...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1997-06-29 00:00:00
abstract：UNLABELLED:Treatment and prognosis of bacteremias caused by Staphylococcus aureus is different, whether only bacteremia is present or it is complicated with endocarditis. Transoesophageal echocardiography may have a role in evaluation of bacteremias caused by Staphylococcus aureus to confirm or exclude infective endoca...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2007.27721
更新日期：2007-01-14 00:00:00
abstract：:The concentration of HbA1c, glycosilated serum proteins and blood glucose were followed up during the first eight postnatal weeks in 10 preterm babies of mean (+/- SD) birthweight and gestational age of 1259 +/- 140 g and 30.2 +/- 2.0 weeks, respectively. Both blood glucose and the glucosilation of proteins remained u...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1992-05-24 00:00:00
abstract：:.15, 0.25 and 0.5 g/kg alcohol in the form of 40% brandy in one week intervals was consumed by eight healthy, regularly trained young men volunteers. Blood alcohol level, blood pressure and ECG were registered before and 30, 60 and 90 min after, each alcohol consumption. The cardiac output was measured with a radiocir...
journal_title：Orvosi hetilap
pub_type： 临床试验,杂志文章,评审
doi：
更新日期：1989-12-24 00:00:00
abstract：:One chronic uraemic patient was treated with intermittent peritoneal dialysis. During the 9th month decreasing of ultrafiltration and increasing of the blood level of low-molecular weight substances was observed. Laparotomy was performed twice because of increased intraperitoneal bleeding. During the operation periton...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1991-05-05 00:00:00
abstract：UNLABELLED:In recent years, the broad introduction of fast multidetector computed tomography (CT) systems and the availability of commercial software for perfusion analysis have made cerebral perfusion imaging with CT a practical technique for the clinical environment. AIM AND METHODS:This article reviews the use of C...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2008.28323
更新日期：2008-06-08 00:00:00
abstract：:Elevated antibody titers to food antigens and increased intestinal permeability in IgA nephropathy (IgA NP) suggest that these factors may be interdependent and play a role in the pathogenesis of the disease. In 1989 IgA and IgG antibodies against eight common food antigens were examined in the sera of 35 IgA NP patie...
journal_title：Orvosi hetilap
pub_type： 临床试验,杂志文章,评审
doi：
更新日期：1996-01-14 00:00:00
abstract：UNLABELLED:Using quantitative sacroiliac joint scintigraphy for identifying patients with active sacroiliitis the diagnosis is relied on the abnormally high values of sacroiliac (SI) index. However, the normal range of SI index and the threshold for detecting the disease are still under discussion in the literature. A...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2009.28643
更新日期：2009-08-16 00:00:00
abstract：:Seven children with albinism were examined for haemorrhagic diathesis. In 6 patients coagulation screening tests (prothrombin time, activated partial thromboplastin time, thrombin time) were normal, in 1 patient prolongation of activated partial thromboplastin time due to mild factor XI deficiency was found. Platelet ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1997-02-23 00:00:00
