Search results

Clinical Neuroscience

SEPTEMBER 30, 2020

[Pompe disease treated with enzyme replacement therapy in pregnancy]

GROSZ Zoltán, VÁRDI Visy Katalin, MOLNÁR Mária Judit

[Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and severe cardio-respiratory failure are common leading to death within 2 years if left untreated, while the late-onset form is characterized with limb-girdle and axial muscle weakness accompanied with respiratory dysfunction. Pompe disease has been treated with regular intake of the missing enzyme since 2006, which significantly improved the survival and severity of symptoms in patients of both subtypes. The enzyme replacement therapy (ERT) is safe and well tolerated. However, limited data are available on its use in pregnancy. Our goal is to share our experience and review the literature on the safety of enzyme replacement therapy for Pompe disease during pregnancy and post partum.]

Clinical Neuroscience

JULY 30, 2020

[Recurrent inhibition during Jendrassik maneuver]


[Objective – Conflicting theoretical models exist regarding the mechanism related to the ability of the Jendrassik maneuver to reinforce reflex parameters. Our objective was to investigate if vigorous handgrip would induce changes in recurrent inhibition of soleus motoneurons. Method – Soleus H reflex was evoked by stimulating the tibial nerve at rest and during bilateral vigorous handgrip, alternating single (H1) and paired stimulation (H2). At paired stimulation we used interstimulus intervals of 10, 15, 20 and 25 ms and supramaximal test stimulus. H1- and H2-wave amplitudes were expressed as percentage of maximal M-wave amplitude. Conditioned H2 wave maximal (H2max) and minimal (H2) amplitudes evoked at rest and expressed as a percentage of the unconditioned H1max amplitude were compared with the corresponding values obtained during handgrip by means of paired Student test and Bonferroni correction. Subjects – At the study participated 28 healthy volunteers. Results – The H1max/Mmax × 100 values obtained during handgrip (37.5±10.1) were significantly higher than those obtained at rest (27.1±7.4). The H2max/H1max × 100-va­lues obtained at paired stimulation were significantly higher during handgrip than at rest, while no significant diffe­rence was found between the H2/H1max × 100-values obtained during handgrip and at rest respectively. Discussion – The H2max/H1max is determined by both the excitability of the motoneurons and the recurrent inhibition elicited by the conditioning stimulus, while H2/H1max indicates only the level of recurrent inhibition. According to our results the Renshaw cells retain their inhibitory effect on the soleus alpha motoneurons during remote muscle contraction. Conclusion – Soleus H reflex enhancement during Jendrassik maneuver is not due to decrease of recurrent inhibition. ]

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.]

Hypertension and nephrology

FEBRUARY 20, 2019

[Carvedilol in chronic kidney disease]

CSIKY Botond

[Chronic kidney disease (CKD) is endemic affecting 850 million people worldwide. Adequate antihypertensive treatment slows the progression of the kidney disease and also decreases the mortality of this population. Because of the comorbidities and the high cardiovascular risk beta-blockers have to be administered frequently in these patients. Carvedilol is a 3rd generation non-selective beta-blocker with alpha- 1 receptor blocking and antioxidant properties. It is metabolically neutral, it does not increase the risk of new onset diabetes and it does not increase the patients’ body weight. In some animal models of CKD and in several human CKD studies carvedilol has shown to have nephroprotective properties and it also decreased the cardiovascular risk in combination therapies.]

Lege Artis Medicinae

DECEMBER 10, 2018

[Experimental investigation of the complex energy balance]


[The complex energy balance includes maintenance of both normal body mass and body temperature. In the homeostasis regulation it is important that the activities of several physiologic processes are balanced with each other, for example, the balance between food intake and energy expenditure is crucial to maintain normal body mass, while the balance between heat production and heat loss is vital in determining body temperature. Obesity and loss of body weight, as well as fever and hypothermia are consequences of the dysregulation in energy balance. In our research, we studied receptorial and neurohumoral mechanisms involved in the maintenance and in the impairment of energy balance. This paper gives an overview of our most important findings, which served as the basis of the application submitted to and awarded with 3rd prize by the Prof. Dr. Laszlo Romics Memorial Foundation. We review the physiologic role of transient receptor potential channels, mostly of vanilloid-1 (formerly: capsaicin receptor) in the regulation of body temperature and body mass. Among the neuropeptides which take part in the maintenance of energy balance, we present the thermoregulatory effects of alpha-melanocyte stimulating hormone and pituitary adenylate cyclase-activating polypeptide. Last, among the molecular mechanisms of systemic inflammation, which is characterized by thermoregulation disorders (e.g., fever, hypothermia), we recap the role of the vanilloid-1 and neurokinin-1 receptor, and bilirubin.]

Journal of Nursing Theory and Practice

JUNE 30, 2018

Reliability and Validity of the Turkish Version of the Brief Scales for Coping Profile in Textile Workers

ORNEK Koseoglu Ozlem, TEMEL Yavuz Guler

The aim of this study is to adapt the BSCP (Brief Scales for Coping Profile) scale to Turkish and to investigate its psychometric properties among textile workers. Methods: This a psychometric study with cross-sectional design. After translation procedures, the BSCP was administered to workers. Content validity of the BSCP was investigated with the CVI index and reliability was investigated with Cronbach’s Alpha. The construct validity was investigated with exploratory and confirmatory factor analysis. Results: The psychometric properties of the original BSCP were supported by the Turkish version of the BSCP. According to the exploratory factor analysis, the BSCP had six subscales. The reliability of the BSCP subscales’ values were 0.692, 0.712, 0.661, 0.756, 0.786, and 0.777 respectively. Conclusion: The Turkish version of the BSCP showed acceptable reliability and validity which is the first adapted scale in Turkey for evaluating workers’ coping profiles. The scale will be a good option to provide basic data about workers’ coping profiles which may be used for prolonging stress management skills and health promotion programs by occupational health and psychiatric nurses, physicians, psychologist and safety experts.

Clinical Neuroscience

MAY 30, 2017

[EEG-based cerebral networks in 14 neurological disorders]

DÖMÖTÖR Johanna, CLEMENS Béla, CSÉPÁNY Tünde, EMRI Miklós, FOGARASI András, HOLLÓDY Katalin, PUSKÁS Szilvia, FEKETE Klára, KOVÁCS Attila, FEKETE István

[Background - Brain networks have not been systematically investigated yet in most neurological disorders. Purpose - To investigate EEG functional connectivity (EEGfC) networks in 14 neurological disorders. Patients - Potentially eligible patients were collected from clinical and EEG databases. All the available clinical data and EEG records were critically revised. All the patients who suffered of a single neurological disorder (out of the 14) and had a good quality EEG recording entered the study. Confoundig factors as comorbidity and CNS-active drug effects were eliminated as far as possible. EEG analysis - Three minutes of resting-state, waking EEG activity were selected for analysis. Current source density (CSD) values were computed for 2394 cortical voxels by Low Resolution Electromagnetic Tomography (LORETA). Thereafter, Pearson correlation coefficients were computed between all pairs of 23 cortical regions of interest (ROI) in each hemisphere (LORETA Source Correlation, LSC software). Computation was carried out for conventional EEG broad bands and very narrow bands (1 Hz bandwidth) between 1 and 25 Hz as well. Correlation coefficients of each group were statistically compared to our normative EEG (LSC) database by two-talied t-tests. Bonferroni-corrected p<0.05 values were accepted as statistically significant, and were graphically displayed as topographical networks. Results and conclusion - Group-specific networks were demonstrated. However, non-specific networks, charasteristic for most groups, were detected as well. Common finding were: decreased connectivity in the alpha band and increased connectivity in the delta, theta bands and upper-beta band. Decreased alpha-band connectivity presumably reflected primary lesional effects and on the other hand, non-specific vulnerability of “rich club connections”. Increased connectivity in the slow bands presumably indicated adaptive-compensatory activity of brain homeostasis. ]

Clinical Neuroscience

MAY 30, 2015

Watershed infarction in hypereosinophilic syndrome: a diagnostic dilemma in FIP1L1-PDGFR alpha-associated myeloid neoplasm

IMELDA Marton, PÓSFAI Éva, ANNUS János Kristóf, BORBÉNYI Zita, NEMES Attila, VÉCSEI László, VÖRÖS Erika

Introduction - The FIP1L1-PDGFR alpha-positive, hypereosinophilic syndrome (HES) is a new category of hematological entities. Various clinical symptoms may occur, with no specific characteristics in either the clinical picture or the neuroimaging findings, and this may give rise to a diagnostic dilemma. A report on a long follow-up period (10 years) in a case of HES that presented with neuropsychiatric symptoms appears to be unique. Besides the complexity of the diagnostic process, the successful treatment is discussed. Case report - The HES was diagnosed in a male patient at the age of 33 years, with involvement of the central nervous system and the myocardium. After the onset of the clinical signs, the MRI indicated bilateral cerebral and cerebellar cortico-subcortical lesions involving the watershed areas, mainly in the parieto-occipital regions. High-dose intravenous steroid (methylprednisolone 500 mg/day) alleviated the neurological symptoms within a few weeks, and the administration of imatinib (200 mg/day) resulted in an impressive regression of the hypereosinophilia and splenomegaly within 6 weeks. During the follow-up, the patient has continued to receive imatinib. The molecular remission has persisted, no new complaints have developed and the condition of the patient has remained stable. Conclusion - The timely recognition of the HES and identification of the disease subtype which led to the administration of imatinib may be the key to successful treatment. The long stable follow-up period gives rise to a new dilemma in the treatment of the HES in these special cases: for how long should a patient receive a tyrosine kinase inhibitor, and may the treatment be suspended?

Clinical Neuroscience

MARCH 25, 2015

[Measuring of functional impairment of lumbal spine]


[Background and purpose - The purpose of our study was to outline the Hungarian validation process of the Oswestry Disability Index, the Quebec Back Pain Disability Scale, the Roland-Morris Disability Questionnaire and the Core Outcome Measurement Index, as well as to draw up recommendations regarding their future applications. Methods - The Hungarian versions were brought to life after a cultural and linguistic adaptation. Next to the above-mentioned questionnaires, the questionnaire booklet used for validation also contained the WHOQoL-BREF general quality of life questionnaire and a pain measuring Visual Analog Scale. The data of low-back pain patients were registered twice in two weeks. We determined the internal homogeneity (Cronbach alpha), reproducibility, standard error of measurement and the minimal detectable change of the questionnaires. Patients were assigned into different two subgroups (surgical / non-surgical, with / without affection of nerve roots) and differences between the subgroups were examined with the help of the questionnaires. We determined the physical subscale of the WHOQoL-BREF and the correlation between the pain and the studied questionnaires. Results - The value of Cronbach alpha was between 0.85 and 0.95. All four questionnaires showed significant differences (p<0.001) between the subgroups. The correlation studies brought strong and significant results (p<0.001, r>0.5) in every case. The values of reproducibility were between 0.93-0.92. The results of standard measurement error: 4.8 (Oswestry), 5.2 (Quebec), 1.6 (Roland-Morris), 0.59 (Core Index). The minimal detectable change was 13; 14; 4, and 2 points, respectively. Conclusion - The Hungarian versions of all four questionnaires are valid. They can be applied with scientific certainty to measure low back pain patients. From the studied questionnaires, we especially recommend the wide-raging application of the Oswestry Disability Index and the Core Outcome Measurement Index based on their psychometric and application features. ]

LAM Extra for General Practicioners

FEBRUARY 20, 2015

[Treatment of hepatits C virus infected patients with cirrhosis in real-life conditions in Hungary with the two pegylated interferons]

[AIMS - In this trial we have analyzed the data of cirrhotic naiv as well as treatment experienced patients with chronic hepatitis C, treated in the East-Hungarian hepatology centers, between 2004 and 2010, because in the era of triple combinations, we mostly treat cirrhotic patients. PATIENTS AND METHODS - We have found 272 patients and in most of them the cirrhosis was proven by biopsy. These patients were treated with pegylated interferon (pegIFN) alpha plus ribavirin in combination, 172 were naiv and 100 patients were treatment experienced. Data were collected retrospectively and the pretreatment parameters like age, sex, body weight, transaminase level, genotype, initial viral load, comorbidities, and proportion of first and repeated treatments have been analyzed. We have investigated the influence of the initial parameters as well as the type of pegIFN on the complete early virologic response (cEVR) and on the sustained virological response (SVR). RESULTS - The cEVR was 27% (74/272) and the SVR was 21% (58/272) in the whole patient population. With pegIFN a-2a, 32% (45/141) cEVR and 28% (39/141) SVR, whereas with pegIFN a-2b 22% (29/131) cEVR and 15% (19/131) SVR were achieved. Among this patient population the largest subgroup was the naiv patients with high viral load (HVL). In this subgroup the SVR was 21% (28/132). However, with pegIFN a-2a SVR was 29% (21/73), whereas with pegIFN a-2b SVR was only 12% (7/59). The above differences found between the two pegIFNs proved to be statistically significant. Age <40 years, low viral load (LVL) and treatment with pegIFN a-2a proved to be independent positive factors influencing cEVR as well as SVR, by multiple logistic regression analysis. CONCLUSION - According to these results, cirrhotic patients with hepatitis C may benefit if pegIFN a-2a is used as backbone therapy in triple combinations. ]