Abstract：
INTRODUCTION:Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue. METHODS:A case of a 45-year-old male patient is presented, and difficulty in diagnosis is discussed. RESULTS:The patient had been repeatedly examined because of hypersomnia, dyspnea and fatigue for a full year before a neurological consultation was requested. Artificial ventilation resulted in a dramatic improvement of his symptoms. Neurological examination revealed myopathy. Electrophysiological myotonia and glycogen storage in muscle biopsy specimen suggested acid maltase deficiency. The diagnosis was established by genetic testing detecting the previously described homozygous c.-45T > G mutation in the alpha-glucosidase gene. DISCUSSION:Rare hereditary neurological diseases can be also suspected as cause of chronic unexplained respiratory insufficiency resulted in hypersomnia and fatigue due to hypercapnia and myopathy. A proper diagnosis can contribute to early diagnosis and introduction of enzyme replacement therapy may reduce or stop clinical progression. Genetic diagnosis can also provide a possibility for prenatal testing.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Merkli H,Pál E,Nagy F,Horváth R,Várdi VK,Komoly S,Illés Zsubject
Has Abstractpub_date
2006-07-30 00:00:00pages
1421-4issue
30eissn
0030-6002issn
1788-6120journal_volume
147pub_type
杂志文章相关文献
ORVOSI HETILAP文献大全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：:Epididymotomy was performed besides drug therapy in 61 patients suffering from acute epididymitis. Surgical intervention was indicated if the conservative therapy was not successful or the wall of the scrotum became fixed. Epididymotomy is carried out by longitudinal or multiple incision of the inflamed epididymis and...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1989-04-23 00:00:00
abstract：:The authors present a case of acute dissection of ascending aorta diagnosed by two-dimensional echocardiography. Echocardiographic findings were subsequently confirmed by angiography. The patient was successfully operated and has been asymptomatic since the operation. The authors point out the importance the echocardi...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1989-02-26 00:00:00
abstract：UNLABELLED:The specific diagnosis of herpes simplex virus type 1 and 2 infections has an extreme importance in acute infections of central nervous system due to both availability of specific antiviral therapy and the possible serious consequences of the disease. AIMS:Evaluation of the relevance and interpretation of t...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2010.28921
更新日期：2010-11-14 00:00:00
abstract：:Free radicals which are produced constantly in the human body have a significant role in the development of atherosclerosis. The responsibility of leukocytes for vascular disease has been proved in several ways. Hormonally active women are protected much more against myocardial infarction than men, which fact can be e...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1999-07-18 00:00:00
abstract：UNLABELLED:The authors summarize the present knowledge on arrhythmogenic right ventricular cardiomyopathy/dysplasia. Limited data are available about natural history of asymptomatic patients with arrhythmogenic right ventricle cardiomyopathy/dysplasia, who have a ventricular tachycardia during exercise test. A 25-year ...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2010.28995
更新日期：2010-12-26 00:00:00
abstract：:An attempt is made to give a concise overview on the evidence based physiological effects of static magnetic fields, with special emphasis on the Hungarian experiences. This area of science has developed significantly in recent years, parallel with the proliferation of nuclear magnetic resonance in medical diagnostics...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2009.28654
更新日期：2009-07-05 00:00:00
abstract：INTRODUCTION:Nowadays doctor-patient consultation is not limited to personal appointments, there are new technical possibilities to keep contact. AIM:The aim of our study was to examine the way in which the doctor and patient interact with each other between two personal consultations and how the patients would like t...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2018.31209
更新日期：2018-12-01 00:00:00
abstract：:The authors present the most typical forms of the prostatic cancer imaged by transrectal ultrasound. They compared the results of investigations of two tumor markers [prostatic specific antigen (PSA), prostatic acid phosphatase (PAP),] the transrectal ultrasound and the rectal palpation. The sensibility of PSA, the ul...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1990-02-18 00:00:00
abstract：:The authors investigated the frequency of left atrial spontaneous echo contrast in mitral valve disease. They also tested whether there was any correlation between the presence of left atrial spontaneous echo contrast and the severity of the mitral valve disease. Echocardiographic investigations were performed using b...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1996-12-01 00:00:00
abstract：:This study compared the physiological and economical effects of laparoscopic and open surgery. The laparoscopic minimally invasive technique reduced the trauma of the tissue, the homeostasis of the organism was less damaged, therefore the metabolic and inflammatory responses were reduced, the respiration and blood gas...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1997-02-02 00:00:00
abstract：:The authors present a case report of a 13.5 yrs old girl. The first manifestation of her diabetes was the sudden decrease of her vision due to bilateral cataract. There was no report of perinatal of actual infection, previous trauma, radiation exposure or drug consumption. She was hypermetropic, for that she regularly...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1999-08-29 00:00:00
abstract：:Billions of microorganisms can be found in the oral cavity, from which bacteria are the most frequent. More than 600 bacterial species can be isolated. Most of them are harmless, moreover, some species prove themselves to be specifically useful. However, in the case of a weakened immune status or inappropriate oral hy...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/650.2019.31377
更新日期：2019-05-01 00:00:00
abstract：:The quality of fitness (aerobic capacity, maximal endurance performance or highly related physiological parameters) or physical activity improving fitness show a tight, reverse correlation to the all-cause and to the cardiovascular mortality within. The most fit one third of the population expect a 30-40 percent small...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2011.29022
更新日期：2011-01-16 00:00:00
abstract：:Peripheral artery disease is a global disease. When present, the occurrence of cardiovascular events and death rises. Patients suffering from peripheral artery disease belong to the high CV risk category. Based on the prevention recommendations when PAD is present, treatments with and without medicine are equally nece...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2007.28128
更新日期：2007-07-15 00:00:00
abstract：:Homeostasis and integrity of bowel mucosa is assured by well controlled mechanical, biochemical and immunological mechanisms. First line of defense is presented by the antimicrobial peptides (AMP), which form a continuous layer on the bowel surface, produced by intestinal specific (Paneth) and non-specific epithelial ...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：10.1556/OH.2009.28737
更新日期：2009-11-22 00:00:00
abstract：:The screening and special management of high risk patient, is possible strategy to reduce the high morbidity and mortality of stroke. In the II. district of Budapest we examined high vascular risk patients cooperating with general practitioners. We let the severity of risk with arithmetic of the cumulative risk index....
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2000-04-23 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：:When taken during pregnancy, the earlier types of contraceptive pills had a direct teratogenic effect on the female fetus, causing the masculinization syndrome. Presently available pills, which are of different composition and given in smaller doses, do not have a direct teratogenic effect when taken during pregnancy...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1980-01-06 00:00:00
abstract：UNLABELLED:In nonvalvular atrial fibrillation stroke prevention by anticoagulation is clearly recommended by evidence based medicine. Underusage of coumarin treatment however is a general problem. The aim of this study was the analysis of prehospital and hospital practice of anticoagulant therapy in a Hungarian cohort....
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2004-03-07 00:00:00
abstract：:The authors present a case of a Sertoli-cell type androblastoma of the ovary. The tumor is mainly seen in young women and is mostly discovered through hormonal dysfunctions linked to it. Histopathological evaluation is indispensable for an exact diagnosis. Because of its rarity, there is little experience with the tum...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：2004-03-28 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：INTRODUCTION:The EuroHOPE FP7 project analysed the effectiveness and efficiency of stroke care between 2010 and 2014. AIM:The study introduces Hungarian data in comparison with international results and explores the causes of differences. METHOD:The analysis was performed on data available from regular data collectio...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2016.30558
更新日期：2016-10-01 00:00:00
abstract：:From analyzing the epulis patient population of 40 years it could be established that from the 1019 lesions 12.8% relapsed, in 40% of surgical interventions, beside the extraction of the tooth involved. For the removal of epulis an own method has been elaborated by the authors. As a first step the tumour is excised by...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1990-11-25 00:00:00
abstract：INTRODUCTION:Congenital heart defects are frequently present in patients with Down syndrome. AIM:The authors analyzed the impact of changing approach in surgical management of congenital heart defect on the life expectancy of patients with Down syndrome. METHOD:Between 1974 and 1997 the data of 359 children with Down...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/650.2016.30529
更新日期：2016-10-01 00:00:00
abstract：UNLABELLED:The health status and social circumstances of medical professionals have been studied worldwide. However, there are only a few published studies pertaining to these topics in the countries of the former Eastern block. The present paper aimed at charting the state of health, the medical career path and some s...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：10.1556/OH.2009.28566
更新日期：2009-03-22 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：: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 paper gives an introduction to the basis and quality control of a relatively new imaging method. First the different kinds of SPECT instruments, and then the aspects of diagnostic application are described. Details are given on examinations of the central nervous system, the abdomen, the hearth and the skeletal sy...
journal_title：Orvosi hetilap
pub_type： 杂志文章,评审
doi：
更新日期：1989-03-19 00:00:00
abstract：:This study gives a brief survey of the mechanisms initiating and executing cardiovascular adjustments to physical activity. The maximum physiological changes in cardiovascular functions are produced by endurance exercise. However, the advantageous effects of physical exercise might have a preventive role for cardiovas...
journal_title：Orvosi hetilap
pub_type： 杂志文章
doi：
更新日期：1993-06-06 00:00:00
