Abstract：
:Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Miklós G,Fekete G,Haltrich I,Tóth M,Reismann Pdoi
10.1556/650.2017.30905subject
Has Abstractpub_date
2017-11-01 00:00:00pages
1883-1888issue
47eissn
0030-6002issn
1788-6120journal_volume
158pub_type
杂志文章相关文献
ORVOSI HETILAP文献大全abstract：:The carcinoid tumours are rare forms of the gastrointestinal tumours (they make up 2%), though lately they have shown an upward tendency. Among different types of treatments of the carcinoid tumours in non metastatised cases, the surgical intervention stands first on the list. But when symptoms emerge, most of the tum...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1998-10-11 00:00:00
abstract：:Recently, the measurement of the thickness and extent of the first-trimester posterior simple embryonic hygroma by vaginal ultrasound has become the most efficient method in the antenatal screening for chromosomal aneuploidies. The sensitivity of the screening is only 75-90%, therefore, the search for other potential ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1996-10-20 00:00:00
abstract：:The increasing role of vaccination in prevention of infectious diseases, the newly introduced vaccines and immunization systems are dealt with. Some recent and future alterations in the field of the basic vaccination system are discussed. Special emphasis is laid on the new vaccines and immunization methods which can ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1998-11-15 00:00:00
abstract：INTRODUCTION:Nowadays minimally invasive techniques are a leading factors in medicine. According to this trend, hysteroscopy has been used in gynecology more and more frequently. Office hysteroscopy gives opportunity for a faster examination with less costs and strain for the patient. AIM:The aim of this work was to g...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2014.29962
更新日期：2014-10-05 00:00:00
abstract：UNLABELLED:Failures in the antibiotic therapy of Lyme disease have repeatedly been demonstrated by post-treatment isolations of the infecting borreliae. Analyses of the antibiotic susceptibility patterns of borreliae may help to understand the causes of such treatment failures and to develop new therapeutic regimens. ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2002-05-26 00:00:00
abstract：INTRODUCTION:Cardiovascular risk assessment may help in the identification of symptom-free subjects with high cardiovascular risk. AIM:The author studied the correlation between SCORE and Reynolds risk assessment systems based on data from the cardiovascular risk screening program carried out in subjects without cardi...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2013.29730
更新日期：2013-10-27 00:00:00
abstract：:Lycopene is a carotenoid found predominantly in tomatoes and tomato products. In contrast to beta-carotene it is not a precursor of vitamin A in humans. Lycopene is not destroyed during food processing, moreover its bioavailability improves. Lycopene is the most powerful antioxidant amongst carotenoids. Beside the ant...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：2005-07-31 00:00:00
abstract：:Ninety two patients suffering from porphyria cutanea tarda were examined ophthalmologically in a paired case-control study. The incidence of pinguecula and that of pterygium were 8 times and 2 times higher, respectively, in PCT patients that in the control group. The photodamage of the conjunctiva is presumed to be a ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1992-11-15 00:00:00
abstract：:Human papillomavirus infection proved to be the most important risk factor for the development of cervical cancer and its preblastomatosis. Human papillomavirus was detected from 1996. June to 2000. September at 1635 patients, who had been positive by colposcopy and/or cytology in an earlier examination. The place of ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2001-06-17 00:00:00
abstract：:The author analyzes the applicability of the renin-angiotensin system blocking drugs in patients with chronic kidney disease emphasizing their renoprotective (blood pressure and albuminuria lowering) and cardiovascular risk decreasing effects. As opposed to a previously-published statement, the author believes that th...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2013.29609
更新日期：2013-05-12 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：: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：:The composition of the cellular infiltrate in 42 needle and wedge biopsies of transplanted kidneys was investigated immunohistochemically. The various inflammatory cell populations were examined in different rejection types and cyclosporin-A nephrotoxicity (CsAN) as well as in different locations in the graft (perivas...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1990-01-28 00:00:00
abstract：:Clinical presentation at diagnosis and disease course of both Crohn's disease (CD) and ulcerative colitis (UC) are heterogeneous and variable over time. During follow up, intestinal strictures or perforation may eventually develop at most patients with CD, and significant number of patients will undergo surgery. Much ...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2010.28813
更新日期：2010-02-21 00:00:00
abstract：:A seven-year-old girl was referred to the Department of Periodontology of the Semmelweis University with a symmetric bilateral, painless, non-inflammatory diffuse enlargement on the lingual aspects of her lower jaw. The family history revealed that her mother and elder sister had Recklinghausen's disease with typical ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2020.31737
更新日期：2020-05-01 00:00:00
abstract：:Proton pump inhibitors (PPI) have influenced dramatically the management of acid-related disorders in recent years. They all have a broadly similar mechanism of action. There are some differences however, between the PPIs in their pharmacokinetics, pharmacodynamics, clinical efficacy, and potential for drug interactio...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：2001-09-09 00:00:00
abstract：:Treatment of thoracoabdominal aortic aneurysms is one of the most difficult challenges of vascular surgery. Endovascular options for complex aneurysms in urgent situation are limited. Thoracoabdominal giant aortic aneurysms are especially rare phenomena, each of them requires patient-specific treatment. Staged-fashion...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2020.31676
更新日期：2020-02-01 00:00:00
abstract：INTRODUCTION:Lesions identified during breast imaging often require microscopic verification. Current recommendations imply the classification of radiological, clinical, cytology and core biopsy findings into one of five predefined categories. The Decker system also includes a classification of both the correlation bet...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2017.30790
更新日期：2017-07-01 00:00:00
abstract：:The "gold standard" of the prevention of atrial fibrillation related thromboembolic events is anticoagulation therapy with oral vitamin K antagonists. A certain proportion of high-risk patients with atrial fibrillation are not receiving effective antithrombotic therapy because of problems associated with its use. Reso...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2013.29550
更新日期：2013-02-17 00:00:00
abstract：UNLABELLED:Liver transplantation is a routinely used therapeutic choice in the treatment of end stage liver disease. Portal vein stenosis is a rare vascular complication after liver transplantation. We report the interventional radiological management of three cases of portal vein stenosis. AIM:The surgical management...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2009.28607
更新日期：2009-06-28 00:00:00
abstract：:Antibodies against ENA (Extractable Nuclear Antigens), SSA/Ro and SSB/La were investigated in parallel in the serum and the immune complex precipitates of 41 patients with autoimmune disease (10 systemic lupus erythematosus, 23 discoid lupus erythematosus, 3 subacute cutaneous lupus erythematosus, and 5 progressive sy...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1992-05-03 00:00:00
abstract：:Proton pump inhibitors (PPIs) are widely used for the treatment of gastroesophageal reflux disease, as well as other acid-related disorders. Omeprazole, lansoprazole, pantoprazole, rabeprazole and esomeprazole effectively suppress gastric acid secretion by blocking the gastric acid pump, H+/K+ -adenosine triphosphatas...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2007.27902
更新日期：2007-03-25 00:00:00
abstract：:The complex anaesthesia and intensive care of liver transplantation require special instruments beside expert's knowledge. We monitorize the haemodynamics invasively during the operation and immediately afterward. In the later period of intensive care we prefer the noninvasive haemodynamic monitoring techniques. The t...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1996-10-20 00:00:00
abstract：:Tumoral calcinosis is a distinct entity, which is rarely seen in Europe and North America but much more common in black Africans. Typical symptoms are calcified nodules, which grow while remaining asymptomatic and are found in the tissues adjacent to the large joints of the body. Histologically there is collagen necro...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1995-06-25 00:00:00
abstract：:The progression from panel doctor's system towards family medicine in Hungary is reviewed, including professional, educational, financial and legal background. The main barriers for further development are insufficient human resources, inadequate financial foundation, administrative overload and the present legal regu...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2009.28680
更新日期：2009-08-23 00:00:00
abstract：:A total of 93 breast cyst fluids (BCF) obtained by needle aspiration of women suffering from gross cystic mastopathy was hormonally investigated. The mean age of the patients was 45 years (range 27-65). Estradiol (E2), progesterone (PROG), testosterone (TE), prolactin (PROL), estriol (E3), dehydroisoandrosterone and i...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1994-04-24 00:00:00
abstract：:Results of management of 67 patients who swallowed foreign bodies are discussed. Types of foreign bodies, the importance of previous esophageal strictures, the rare diagnostic difficulties and the different clinical signs are analyzed. Authors stress that the most frequent causes of the artificial esophageal perforati...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1993-02-14 00:00:00
abstract：UNLABELLED:Previous studies have found that many high-risk patients are not achieving their LDL-cholesterol goals, and many patients, despite being treated with lipid-lowering therapy, also have elevated triglycerides and/or low levels of HDL-cholesterol. AIMS:Authors analyzed the treatment strategies for dyslipidemic...
journal_title：Orvosi hetilap
pub_type： 临床试验,杂志文章
doi：10.1556/OH.2011.29127
更新日期：2011-05-22 00:00:00
abstract：:One of the rare reasons of the non malignant superior vena cava syndrome is the thrombosis of superior vena cava. Obstruction or occlusion of central veins is one of the many complications of the more and more frequently used central venous catheters and pacemaker electrodes. The authors report a case of superior vena...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2008.28207
更新日期：2008-01-06 00:00:00
abstract：:International migration is a current and growing phenomenon, which has become an increasingly critical issue in Europe since 2013 and this has posed new challenges to the healthcare systems of the European Union (EU). The need for 'culturally competent' healthcare systems that can adapt and respond to the needs of a c...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2020.31836
更新日期：2020-08-01 00:00:00
