Lege Artis Medicinae

[CLINICAL EXAMINATION OF ENZYME CATALASE AND ITS MUTATIONS IN HUNGARY]

GÓTH László

APRIL 20, 2005

Lege Artis Medicinae - 2005;15(04)

[Hydrogen peroxide is formed during physiological and pathological processes in the human body. Hydrogen peroxide in high concentration and its more reactive compound (hydroxyl radical) can damage cells. Recent findings show that hydrogen peroxide in low concentration is required for many physiological pathways of cell signaling such as diabetes, platelet activation, inflammation, immune response. In human tissues the steady state concentration of hydrogen peroxide changes between 0.1 nmol/l-100 micromol/l. The main regulator of hydrogen peroxide metabolism is the enzyme catalase. This enzyme has a fast and high activity on high hydrogen peroxide concentrations and it shows a weak effect on its physiologic concentration. Acatalasemia, the inherited deficiency of enzyme catalase seems to be rather a syndrome than a simple enzyme deficiency as it was thought earlier. It is associated with changes in lipid, carbohydrate and erythrocyte metabolisms. Contrary to the the worldwide (11 countries) distribution of acatalasemia only two syndrome causing catalase mutations have been reported from Japan. Recently, four novel catalase mutations detected in one acatalasemic and 12 hypocatalasemic Hungarian families which mutations are responsible for the decreased catalase activity.]

COMMENTS

0 comments

Further articles in this publication

Lege Artis Medicinae

[RARE ASSOCIATION OF HODGKIN’S LYMPHOMA, GRAVES’ DISEASE AND MYASTHENIA GRAVIS]

RESS Zsuzsa, MEKKEL Gabriella, ILLÉS Árpád

[INTRODUCTION - In some cases other diseases associate with Hodgkin’s lymphoma, when it is diagnosed or relapses. Association of Hodgkin’s lymphoma with Graves’ disease and myasthenia gravis in one patient has not yet been reported in the literature. CASE REPORT - We report on a young female patient who had suffered from Hodgkin’s lymphoma since 1996. He had received polychemotherapy and mantle field irradiation previously. After treatment, complete remission was stated in 2000. Then she was treated because of Graves’ disease. In 2001 she complained of dysarthria, dysphagia, ptosis and diplopia. Thorough examinations proved myasthenia gravis. Considering the progression plasmapheresis was administered several times with cyclophosphamide and intravenous immunglobulin, besides conservative therapy. Recently she is euthyroid state, Hodgkin’s disease is in remission and her only complaint is dysarthria. CONCLUSION - The importance of this case on one hand is the rare association of these diseases, on the other is that Graves’ disease and myasthenia gravis occurred during in the remission of Hodgkin’s disease. Causal relation is not unambiguous but the role of disturbed immunregulation caused by Hodgkin’s lymphoma or the irradiation of the neck region can also contribute to it. The pure coincidental occurrence of Hodgkin lymphoma, Graves’ disease and myasthenia gravis is highly unlikely.]

Lege Artis Medicinae

[The 25th Congress of Colon Section of the Hungarian Society of Gastroenterology - Gyula, January 21-22. 2005.]

ÚJSZÁSZY László

Lege Artis Medicinae

[Telling the truth to the patient?]

GRABER Hedvig

Lege Artis Medicinae

[THE VALUE OF EXHALED NITRIC OXIDE IN ASTHMA BRONCHIALE - DIFFERENTIAL DIAGNOSIS AND MANAGEMENT]

HORVÁTH Ildikó

[Although the differential diagnosis of asthma is simple in most cases, there are cases causing difficulties. Beside as an aid in diagnosis, there is a growing need for new tests to monitor airway inflammation to optimize and monitor the effect of treatment. Following the traditional methods used in everyday clinical practice a new method, the measurement of exhaled nitric oxide was introduced in the past decade. With this method, completely new information can be obtained about asthma supplementing other results in diagnosis making and disease monitoring. It is also expected to become the part of clinical practice in the next few years. The concentration of exhaled nitric oxide is elevated in asthmatic patients and its elevation is positively related to the degree of eosinophilic airway inflammation and symptoms. This measurement is approved in the European Union and in the USA for clinical use to monitor the effectiveness of anti-inflammatory treatment in asthma.]

Lege Artis Medicinae

[STELLAR - Metabolic syndrome ]

MATOS Lajos

All articles in the issue

Related contents

Clinical Neuroscience

Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.

Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Hypertension and nephrology

[About the care of patients with hyperuricaemia and gout]

[This consensus document is intended to provide guidance for the effective and efficient treatment of asymptomatic individuals with high uric acid levels and gout patients.]

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

Clinical Neuroscience

[The role of sleep in the relational memory processes ]

CSÁBI Eszter, ZÁMBÓ Ágnes, PROKECZ Lídia

[A growing body of evidence suggests that sleep plays an essential role in the consolidation of different memory systems, but less is known about the beneficial effect of sleep on relational memory processes and the recognition of emotional facial expressions, however, it is a fundamental cognitive skill in human everyday life. Thus, the study aims to investigate the effect of timing of learning and the role of sleep in relational memory processes. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. Our results suggest that the timing of learning and sleep plays an important role in the stabilizing process of memory representation to resist against forgetting.]