Lege Artis Medicinae

[Methotrexate inhibits the glyoxalase system in vivo in children with acute lymphoid leukaemia]

BARTYIK Katalin, TÚRI Sándor, OROSZ Ferenc, KARG Eszter

APRIL 20, 2005

Lege Artis Medicinae - 2005;15(04)

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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

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

GÓTH László

[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.]

Lege Artis Medicinae

[In the focus: Allergy]

NÉKÁM Kristóf

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

[COMMODORE]

MATOS Lajos

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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.

Clinical Neuroscience

Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

Lege Artis Medicinae

[Risk of nonsteroidal antiinflammatory drugs. Focus on aceclofenac]

FARSANG Csaba

[Nonsteroidal antiinflammatory drugs (NSAIDs) are among the most frequently used pharmaceuticals. Nevertheless, a number of studies emphasized that NSAIDs were damaging not only the gastrointestinal (GI), but also the cardiovascular (CV) system, could increase the blood pressure, the frequency of coronary events (angina, myocardial infarction) and stroke incidence, as well as they might deterio­rate renal functions. The National Institute for Health and Care Excellence (NICE) did not find evidence that administering NSAIDs could increase the risk of developing COVID-19 or worsened the condition of COVID-19 patients. However, unwanted effects of specific drugs differ substantially in their occurrence and seriousness as well. It seemed to be for a long time that the NSAIDs provoked higher GI-risk was closely related to the COX1/COX2 selectivity, like the cardiovascular (CV) risk to the COX2/COX1 selectivity, however, the recent data did not prove it clearly. Based on the available literature while pondering the gastrointestinal and cardiovascular adverse events, among all NSAIDs the aceclofenac profile seemed to be the most favourable.]

Lege Artis Medicinae

[LAM 30: 1990–2020. Facing the mirror: Three decades of LAM, the Hungarian medicine and health care system]

KAPÓCS Gábor

Clinical Neuroscience

Acute effect of sphenopalatine ganglion block with lidocaine in a patient with SUNCT

KOCATÜRK Mehtap, KOCATÜRK Özcan

Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing/short-lasting unilateral neuralgiform headache with cranial autonomic features (SUNCT/SUNA) is a rare severe headache. At the time of an attack, it can hinder a patient from eating and requires acute intervention. The sphenopalatine ganglion is an extracranial parasympathetic ganglion with both sensory and autonomic fibers. Sphenopalatine ganglion block has long been used in the treatment of headache, particularly when conventional methods have failed. Here, we present a patient who was resistant to intravenous lidocaine, but responded rapidly to sphenopalatine ganglion block during an acute episode of SUNCT/SUNA.