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Hypertension and nephrology

SEPTEMBER 30, 2020

[Post-career development of cardiometabolic changes and hypertension in competitive athletes]

LELBACH Ádám, KÁNTOR Márk, KOLLER Ákos

[Regular physical activity is essential in delaying the aging processes (e.g. arterial remodelling – stiffening, metabolism, bodyweight), the beneficial effects of competitive sports – especially strength sports – according to the recent data of the literature are questionable. The beneficial effects of physical activity on the cardiovascular (CV) system are well known, however less is known regarding the delayed impacts of high intensity competitive sports on the CV system, especially after the sport career is over. This review summarizes the effects of active competitive sport and the post-career period on the cardiometabolic system with special attention to the systemic blood pressure and the development of metabolic syndrome. After sport career, the welldeveloped high performance cardiovascular- and metabolic system suddenly is much less used, but still supported by sport-level diet. It is well known that hypertension is a significant pathogenic factor in the development of cardiovascular diseases, characterized – among others – by reduced elasticity of large- and medium- sized vessels thereby importantly contributing to the development of systolic hypertension. Inflammation and thrombus formation both play an important role in the development of vascular injury and atherosclerosis. The increased tone of microvessels can impair the blood supply of certain organs, including the coronary circulation. It has been ample shown, that regular non-competitive, aerobic exercise activities are important factors in preventing hypertension. Such pathological changes become more evident after the development of post-career obesity, as well as the development of hypertension due to the activation of the renin-angiotensin system through sodium retention and other metabolic changes (increased glucose tolerance, insulin resistance, type II diabetes mellitus). It has been ample shown, that regular non-competitive, dynamic aerobic exercise activities are important factors in preventing hypertension. The frequency, intensity, type, and time (FITT) principle of exercise prescription is the first and common therapeutic approach, which represents the translation of cardiovascular basic science research results into hypertension treatment, thus can provide a personalized physical activity program/therapy according to medical needs not just for the post-career sportspersons, but the wide range of patients.]

Clinical Neuroscience

MAY 30, 2020

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]

MOLNÁR Mária Judit, BORSOS Beáta, VÁRDI Visy Katalin, GROSZ Zoltán, SEBÕK Ágnes, DÉZSI Lívia, ALMÁSSY Zsuzsanna, KERÉNYI Levente, JOBBÁGY Zita, JÁVOR László, BIDLÓ Judit

[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]

Clinical Neuroscience

JANUARY 30, 2016

[The propagation and semiology of focal epileptic seizures. case presentations to the insula. theoretical considerations]

BALOGH Attila, BALOGH Attila ifj.

[Study objectives – The developing of diagnostical examinations in epileptology provides new challenges in seizure semiology. On the analysis of seizures it is important to examine the mechanisms of their propagation. The brain connectivity (based on the neuroimaging), the shadowing of the movement of excessive neuronal activity (based on computerized EEG and MEG methods), the cognition of the physiological and pathological brain networks are the foot- stone of the epileptic seizure propagation. The investigators prove, by means of case demonstrations of the role of the network nodes and the role of the epileptic hubs in the seizure symptomatology. Methods – The preoperative, intra and postoperative data are analised of three insular and one parietal epileptic patients in point of view of their seizure symptomes. Complex neuroimaging, noninvasive and invasive electrophysiology, intensive long-term video-EEG monitoring, computerized EEG analysis, fuctional mapping, intraoperative corticography were used. The etiology were confirmed with hystology. Results – It is observed that on seizure semiology our patients plays the insula a double role. In some cases, it is the focus of insular seizures with their symptoms difficult to identify. However, in the majority of cases and as a consequence of its rich neural connections, the insula has a peculiar property in the evolution of the symptomatogenic features of seizures. This observations are developing new relationships between the mechanism of seizure propagation and its semiological consequences. Conclusions – On epileptological point of view there are brain structures which has peculiar role in the „designe” of propagation of the epileptic excitement. The numerous new methods in neuroimaging and neurophysiology allowed the connectomical examination of the epileptic networks. The role of the epileptic diathesis is approachable with the metholdology of the brain connectivity. Theoretically the node of the epileptic network consist of the potential pathes where the localised excessive excitement can propagete. The route where the actual seizure can go adhead is determined by the actual edpileptic propensity of the above mentioned potential pathes.]

Clinical Neuroscience

NOVEMBER 20, 2015

[A rare complication of a rare disease; stroke due to relapsing polychondritis]

KILIC COBAN Eda, XANMEMMEDOV Elimir, COLAK Melek, SOYSAL Aysun

[Relapsing polychondritis (RP) is an episodic and progressive inflammatory disease of cartilaginous structures. Its diagnosis is based primarily on clinical features such as laboratory parameters, biopsy. Neurological complications occur in 3% of the cases and are classified as an important cause of death. The cranial nerve disorders are most common but hemiplegia, ataxia, myelitis, polyneuritis, seizures, confusion, hallucination and headache can also happen. The aetiology of central nervous system involvement is still unknown. Moreover stroke has rarely reported in these patients. The diagnosis of stroke is challenging because of its rarity among these patients. Perhaps vasculitis is the common underlying mechanism. Also meningitis and encephalitis can occur during the course of RP. A 44 year-old woman was admitted with uncontemplated left hemiparesis, redness, swelling, and tenderness of the metacarpophalangeal and interphalangeal joints of the right hand and the cartilaginous portion. White blood cell count, C-reactive protein and the erythrocyte sedimentation rate were elevated. Vasculitis biomarkers were normal in our patient. Carotid and vertebral artery doppler ultrasonography, cranial and cervical MR Angiography were normal. Echocardiography showed a mild mitral valve prolapse and regurgitation. Our patient had the history of auricular polychondritis but she had not been diagnosed. Hemiparesis was her first neurological manifestation that led her to doctors for diagnosis. Our patient fulfilled the criteria of RP so no biopsy was needed. She was treated with oral prednisolone (80 mg/day) and aspirin (300 mg/day) and now she is on 10 mg prednisolone and 150 mg azathioprine. Two months later her physical and neurological symptoms returned to normal.]

Hypertension and nephrology

APRIL 24, 2020

[Possibilities and limitations. Dietary difficulties of chronic renal failure in childhood]

REUSZ György, SZABÓ Adrienn

[In chronic kidney disease (CKD), the role of the kidney in assuring homeostasis is gradually deteriorating. Besides fluid, electrolyte and hormonal disturbances, detoxification and control of blood pressure is insufficient without external help. In children, in addition to achieving equilibrium it is also essential to ensure optimal physical and cognitive/psychological development. Adequate calorie intake is a major determinant of growth during infancy. Among the therapeutic options it is essential to ensure a proper diet. In addition to reflecting the special needs of renal failure in its composition, it must be palatable for the child. Children with kidney disease should have a normal energy diet. Protein intake should not be reduced from the baseline recommendation, but lower phosphorus and high bioavailability should be preferred. A low sodium and potassium diet is recommended for a significant proportion of patients and is based on dietary advice. Further, diet planning may be problematic if the child has special dietary requirements and is in need of nasogastric tube feeding. Because diet planning is a complex task, it is difficult to achieve optimal protein supply and mineral restriction along with high energy intake. In such cases, enteral nutrition with special formulas/ drinks developed for pediatric nutrition may provide a solution.]

Clinical Neuroscience

MARCH 30, 2020

CANOMAD syndrome with respiratory failure

SALAMON András, DÉZSI Lívia, RADICS Bence, VARGA Tímea Edina, HORTOBÁGYI Tibor, TÖMÖSVÁRI Adrienn, VÉCSEI László, KLIVÉNYI Péter, RAJDA Cecília

CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy and B-lymphocyte infiltration of cranial and peripheral nerves. Clinical features include ataxia, slight muscle weakness, areflexia, sensory- and cranial nerve symptoms. Case studies have reported the efficacy of rituximab and intravenous immunoglobulin (IVIg) treatments. We present the case of a 57-year-old man, who had difficulty walking, with numbness and clumsiness in all limbs. He had areflexia, vibratory sensation loss and ataxia. Laboratory tests showed IgM monoclonal components and disialosyl antibodies in the serum. Nerve conduction studies indicated severe sensorimotor demyelinating polyneuroradiculopathy. Despite IVIg and rituximab treatments, the patient’s disease course gradually worsened and he died of respiratory failure. Neuropathological examination revealed dorsal column- and dorsal root atrophy with mixed mononuclear cell infiltration. This article aims to draw attention to this syndrome, and the use of early potent immunosuppressive treatment to improve patients’ quality of life.

Clinical Oncology

FEBRUARY 20, 2019

[P53 – the suppressor]

KOPPER László

[Our basic nature requere cells quantity and quality to perform differenciate activity. p53 has the responsibility for quick out those cells who carries molecular failures in DNA avoiding transfer mutations into doughter cells. If the DNA-repair insuffi cient p53s with on apoptosis. Whe p53 is mutated the phenotypes are different in a wide range due to the heterogenity of the DNA damages, and also the expression pattern of a suppressor protein. With the increasing amout the damaged DNA the genomic instability elevates D the risk to development of tumors. It is linict mutated gene could be a promosing tr, 10t for therapy. So far the attempts have little value for the clinic.]

Hypertension and nephrology

SEPTEMBER 10, 2019

[Kidney diet and the patient compliance issue ]

LADÁNYI Erzsébet

[There have been significant developments in the field of nephrology and dialysis as for the science and technology are concerned in the past decades. However, CKD patients still show high mortality and morbidity. From among the several factors determining the long-term outcome of CKD patients metabolic disorder and malnutrition play an important role. Malnutrition is often not diagnosed or is not paid enough attention to in the complex treatment of CKD patients. It is important to make both the patients and clinical staff more aware of proper nutrition and importance of prevention and treatment of malnutrition, respectively. The early diagnosis and treatment of malnutrition is of utmost importance in CKD patients. The long term renal failure and the accompanying malnutrition have a negative impact on their long term outcome and quality of life. Since the malnutrition causes a lot of complications, it is indispensable for dietitians and nephrologists to work closely together. Patient compliance is a determining factor in the successful implementation of renal diet.]

Clinical Neuroscience

JULY 30, 2019

Effects of CHADS2 score, echocardiographic and haematologic parameters on stroke severity and prognosis in patients with stroke due to nonvalvular atrial fibrillation

AYNACI Ozer, TEKATAS Aslan, AYNACI Gülden, KEHAYA Sezgin, UTKU Ufuk

Introduction - The aim of this study is to evaluate utility of CHADS2 score to estimate stroke severity and prognosis in patients with ischemic stroke due to non-valvular atrial fibrillation (AF) in addition to evaluate effects of hematologic and echocardiographic findings on stroke severity and prognosis. Methods - This prospective study included 156 ischemic stroke cases due to non-valvular AF in neurology ward of Trakya University Medical School between March 2013-March 2015. National Institute of Health Stroke (NIHS) score was used to evaluate severity of stroke at admission. Carotid and vertebral Doppler ultrasonography findings, brain computed tomography (CT) and magnetic resonance imaging (MRI) of the cases were evaluated. Left atrial diameter and ejection fraction (EF) values were measured. CHADS2 score was calculated. Modified Rankin Scale was used to rate the degree of dependence. Effects of age and sex of the patients, presence of diabetes mellitus (DM), Congestive Heart Failure (CHF), Cerebrovascular Disease (CVD) and C-reactive protein (CRP) levels on CHADS2, NIHS, and mRS were evaluated. Results - In patients with age ≥75, mean NIHS score was 3.3 points and mean mRS score was 1.02 points higher, than in patient below 75 years of age. Compared with the mild risk group, cases in the high risk group had older age, higher serum D-dimer, fibrinogen and CRP levels and lower EF. A positive relation was detected between stroke severity and Hemorrhagic Transformation (HT), previous CVD history, and presence of CHF. A significant association was found between increased stroke severity and Early Neurological Deterioration (END) development. Older age, higher serum fibrinogen, D-dimer, CRP and lower EF values were associated with poor prognosis. History of CVD and presence of CHF were associated with poor prognosis. END development was found to be associated with poor prognosis. In the high-risk group, 30.3% (n = 33) had END. Among those in the high-risk group according to the CHADS2 score, END development rate was found to be significantly higher than in the moderate risk group (p <0.05). There was a strong positive correlation between CHADS2 and NIHS scores. mRS score increased with increasing CHADS2 score and there was a strong correlation between them. Effect of stroke severity on prognosis was assessed and a positive correlation was found between NIHS score and mRS value. Discussion - Our study demonstrated the importance of CHADS2 score, haemostatic activation and echocardiographic findings to assess stroke severity and prognosis. Knowing factors which affect stroke severity and prognosis in patients with ischemic stroke may be directive to decide primary prevention and stroke management.

Clinical Neuroscience

JULY 30, 2019

Cerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation

KALMÁR Tibor, MARÓTI Zoltán, VADVÁRI Árpád, HALMOSI Ágnes, KÁLOVITS Ferenc, KÁLMÁN Bernadette

Cerebral cavernous malformations (CCMs) represent a relatively rare and heterogeneous clinical entity with mutations identified in three genes. Both sporadic and familial forms have been reported. We present a young female patient with episodic paresthesia and headaches, but without acute neurological deficits. Her mother had a hemorrhaged cavernoma surgically removed 21 years ago. Cranial magnetic resonance imaging revealed multiple cavernous malformations in the size of a few millimeters and the ophthalmologic exam detected retinal blood vessel tortuosity in the proband. Targeted exome sequencing analysis identified a nonsense mutation in exon 16 of the KRIT1 gene, which resulted in a premature stop codon and a truncated protein underlying the abnormal development of cerebral and retinal blood vessels. This mutation with pathogenic significance has been reported before. Our case points to the importance of a thorough clinical and molecular work up despite the uncertain neurological complaints, since life style recommendations, imaging monitoring and genetic counseling may have major significance in the long term health of the patient.