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Clinical Neuroscience

MARCH 30, 2018

A case with angiographic demonstration of isolated anterior spinal artery occlusion

DOGAN Burcu Vasfiye, KARA Batuhan, SELCUK Hatem Hakan, DIRICAN Ceyhan Ayten, KOKSAL Ayhan

Anterior spinal artery syndrome (ASAS) is a rare syndrome which occurs due to thrombosis of anterior spinal artery (ASA) which supplies anterior two thirds of the spinal cord. A 27-year-old female patient was admitted to emergency clinic with sudden onset neck pain, sensory loss and weakness in proximal upper extremities which occurred at rest. Thrombophilia assessment tests were negative. Echocardiography was normal. Serum viral markers were negative. In cerebrospinal fluid (CSF) examination, cell count and biochemistry was normal, oligoclonal band was negative, viral markers for herpes simplex virus (HSV) type-1 and type-2, Brucella, Borrellia, Treponema pallidum, Tuberculosis were negative. Diffusion restriction which reveals acute ischemia was detected in Diffusion weighted MRI. Digital subtraction angiography (DSA) was performed. Medical treatment was 300mg/day acetilsalycilic acid. Patient was discharged from neurology clinics to receive rehabilitation against spasticity.

Hypertension and nephrology

SEPTEMBER 20, 2015

[Effect of angiotensin-converting enzyme gene insertion/deletion polymorphism on survival of hemodialyzed patients]

KISS István, SZEGEDI János, KULCSÁR Imre, AMBRUS Csaba, KERKOVITS Lóránt, TISLÉR András, KISS József Zoltán

[Introduction: There are inconsistent observations regarding the earlier studies of the connection between ACE gene I/D polymorphism and the cardiovascular mortality. In the case of hemodialyzed patients suffering from chronic kidney disease the DD polymorphism connected to the elevated ACE levels was pointed out to be connected to the mortality rate primarily in patients with diabetes. The previous observations were verified by us during the analyzation of the short-term (three year period) survival data. We hypothesized that the significance of the ACE gene I / D polymorphism in chronic kidney disease would be verified and that during long-term observations (10 year period) the previous results could be validated. Method: In our non-invasive, prospective and multicentre study clinical data was collected from 746 patients whose blood samples were genotyped for ACE gene I/D single nucleotide polymorphism. Three genotype groups (I/I, I/D és D/D) were created during the analyzation of the mortality that was done using multivariate Cox proportional hazard models. Results: The mean age of the HD patients was 54.9 years, 46,8% of all patients were female. The prevalence of diabetes was 19.3%. ACE inhibitor therapy was prescribed for 47.9% of all patients. The median duration of dialysis before the start of the study was 23.8 months (IQR 11.2-47.1). The most frequent genotype was I/D (42.6%), followed by D/D (37.7%) and I/I (19.7%) genotypes. During the ten year follow- up of patients, the median follow-up was 29.8 months (IQR 12.6-63.4). The D/D genotypes showed lower survivability (I/I vs. D/D: log-rank test: p=0.04) from the group of patients without ACE inhibitor therapy. In multivarite Cox regression models D/D genotype compared with I/I genotype only showed that it significantly determines mortality in patients with no ACE inhibitor therapy (HR 0.67, 95% CI 0.46-0.97, p=0.03). Conclusions: There was no difference in survival among unselected patients with different genotypes. Our data suggests that hemodialyzed patients with the D/D genotype might have inferior outcome, and ACE inhibitor therapy may be associated with improved survival in this subgroup.]

Clinical Neuroscience

MARCH 25, 2015

[Genetic polymorphisms of human beta-defensins in patients with multiple sclerosis]


[Aims - Recent studies have started to elucidate the contribution of microbiome to the pathogenesis of multiple sclerosis (MS). It is also supposed, that neuropathological alterations might be associated with abnormal expression and regulatory function of antimicrobial peptides (AMPs), including defensins. It is in our interest to investigate the relevance of the single nucleotide polymorphisms (SNPs) of the DEFB1 gene and the copy number polymorphism of the DEFB4 genes in MS. Methods - DEFB1 polymorphisms: c.-20G > A (rs11362), DEFB1 c.-44C > G (rs1800972), DEFB1 c.-52G>A (rs1799946), and the DEFB4 gene copy number were investigated in 250 MS patients The control patients comprised 232 age- and gender-matched healthy blood donors. The occurrence of the human b-defensin 2 peptide (hBD2) in the plasma of controls and patients was determined by ELISA. Results - The DEFB1 c.-44C>G polymorphism the GG protective genotype was much less frequent among patients than among the controls. A higher frequency of a lower (<4) copy number of the DEFB4 gene was observed in the patients with MS as compared with the controls (43% vs. 28%, respectively). The median levels of the circulating hBD2 in the patients were 150.6±12.71 pg/ml vs. 262.1±23.82 pg/ml in the control group (p<0.0001). Our results suggest that b-defensins play role in the development of MS.]

Clinical Neuroscience

MARCH 25, 2015

[Lack of associations between CLU and PICALM gene polymorphisms and Alzheimer’s disease in a Turkish population]

SEN Aysu, ARSLAN Mehtap, ERDAL Emin Mehmet, AY Izci Ozlem, YILMAZ Gorucu Senay, KURT Erhan, ARPACI Baki

[Background and purpose - To investigate the association between the rs11136000 single nucleotide polymorphism (SNP) of the clusterin (CLU) gene, the rs541458 and rs3851179 SNPs of the phosphatidylinositol-binding clathrin assembly protein (PICALM) gene and Alzheimer’s disease (AD) in a Turkish population, and to determine whether there are any relationships between the CLU and the PICALM genotypes and behavioral and psychological symptoms of dementia (BPSD) in the Turkish population. Methods - One-hundred and twelve AD patients and 106 controls were included in this study. BPSD were evaluated by the Behavioral Pathology in Alzheimer’s Disease Rating Scale (BEHAVE-AD). SNPs in the CLU and the PICALM gene were genotyped by Real-Time PCR. Genotype distributions were assessed for the groups of patients and controls, for the patient groups with and without each BPSD, and “No BPSD” and “BPSD”. Results - The CLU and the PICALM genotypes were similar in the AD and control subjects, and the groups with and without each BPSD. There were also no significant differences between the “No BPSD” and the “BPSD” groups for the PICALM genotypes, but even without a statistical significance, it is notable that none of the “No BPSD” patients had genotype pattern CLU-rs11136000-TT, and the female subjects with genotype pattern CLU-rs11136000-TT had higher mean score of BEHAVE-AD. Conclusion - This study claims that investigated SNPs are not genetic risk factors for AD in a Turkish population. In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but the rs11136000 of CLU SNP might be related to development of BPSD in AD female Turkish subpopulation.]

Lege Artis Medicinae

DECEMBER 20, 2014

[Gene polymorphisms in drug metabolism in diffuse large BCL patients]

PÁL Ildikó, ZILAHI Erika, ILLÉS Árpád, GERGELY Lajos, RADNAY Zita, VÁRÓCZY László

[Diffuse large B-cell lymphoma (DLBCL) accounts for 30% of all non-Hodgkin lymphoma (NHL) and 80% of agressive lymphomas. Besides the Traditional International Prognostic Index (IPI), some other factors may also influence the prognosis of DLBCL patients. Aims - Our purpose was to study how the genetic polymorphism in metabolic pathway influence the eventfree and overall survival and therapeutic response in diffuse large B-cell lymphoma. Method and patients - Fifty-one patient, 32 men and 19 women, were involved in the study. The average age was 53.1 years. DLBCL was diagnosed between 2006 and 2011 and the average follow up time was 3.78 years. These patients received 1-8 cycles (an average of 6-2 cycles) of R-CHOP immunochemotherapy. REAL Time PCR was used to determine the genetic polymorphisms of CYP2E1, GSTP1, NAT1 and NAT2 genes. Results - Our results showed that the polymorphisms of CYP2E1, GSTP1 and NAT1 genes did not influence the prognosis of DLBCL patients. In terms of the NAT2 gene, GG homozygous patients showed slightly better therapeutic response and survival results compared to those bearing an A allele, however, the differences were not statistically significant. Conclusion - Our results could not confirm that genetic polymorphism in metabolic pathways has any predictive role in diffuse large B-cell lmphoma.]

Clinical Neuroscience

JANUARY 25, 2013

[Aspirin and clopidogrel resistance: possible mechanisms and clinical relevance. Part II: Potential causes and laboratory tests]

VADÁSZ Dávid, SZTRIHA K. László, SAS Katalin, VÉCSEI László

[Recent meta-analyses have indicated that patients with vascular disease demonstrated by laboratory tests to be aspirin or clopidogrel-resistant are at an increased risk of major vascular events. The suggested mechanisms of aspirin resistance include genetic polymorphism, alternative pathways of platelet activation, aspirin-insensitive thromboxane biosynthesis, drug interactions, or a low aspirin dose. Clopidogrel resistance is likely to develop as a result of a decreased bioavailability of the active metabolite, due to genetic variation or concomitant drug treatment. Additional work is required to improve and validate laboratory tests of platelet function, so that they may become useful tools for selection of the most appropriate antiplatelet therapy for an individual patient. Improvements in antiplatelet treatment strategies in the future should lead to a reduction in premature vascular events.]

Hypertension and nephrology

DECEMBER 08, 2012

[Association between the genetic polymorphism of heat-shock protein 72 and pediatric kidney diseases]

BÁNKI Nóra Fanni, RUSAI Krisztina, KÁROLY Éva, SZEBENI Bea, VANNAY Ádám, SALLAY Péter, REUSZ György, TULASSAY Tivadar, SZABÓ J. Attila, FEKETE Andrea

[Recurring urinary tract infections (UTI) in childhood may result in chronic- and end-stage-renal-disease (ESRD), which leads to the initiation of dialysis and renal transplantation (NTx). Heat shock protein (HSP) 72 protects the kidney, whereas it refolds destroyed proteins and cells, and helps regenerating the renal tissue. The HSPA1B (1267)G allele is associated with lower HSP72 expression. This study assesses the role of HSPA1B A(1267)G polymorphism using PCR-RFLP in 103 children treated because of recurrent UTI, 26 children after NTx and 235 healthy controls. Clinical data were also evaluated. HSPA1B (1267)GG genotype and HSPA1B (1267)G allele occurred more frequently in the UTI (p=0.0001; CI: 1.378-2.68) and in the NTx (p=0.014; CI: 2.29-187.7) patient group than in the controls group, and were associated with a higher risk for scarring (p=0.012; CI: 0.33-1.00) and renal malformation (p=0.0072; CI: 1.623- 140.6). Our data indicate a relationship between the carrier status of HSPA1B (1267)G allele and the development of recurrent UTI and ESRD, raising further questions about the clinical and therapeutic relevance of these polymorphism.]

Lege Artis Medicinae

MAY 20, 2004



[The DNA-based assays have the potential to be a powerful diagnostic tool given its ability to specifically identify H. pylori DNA. Markers used include general H. pylori structures and pathogenetic factors like ureaseA, cagA, vacA, iceA. DNA or bacterial RNA for polymerase chain reaction (PCR) assays can be collected from gastric biopsy, gastric juice, stool, buccal specimens. PCR can yield quantitative and genotyping results with sensitivity and specificity that approaches 100%. A clear trend in the direction of the determination of quantitative H. pylori infection by real-time PCR can be observed. Fluorescent in situ hybridisation (FISH) and restriction fragment length polymorphism (RFLP) are suggested for routine antibiotic resistance determination. To identify the DNA structure of organism and its virulence factors may be feasible by using oligonucleotide microarray specifically recognising and discriminating bacterial DNA and various virulence factors. DNA based H. pylori diagnosis yields higher sensitivity, however, specificity requires sophisticated labour environment and associated with higher costs.]

Clinical Neuroscience

DECEMBER 20, 2002

[Relationship between the efficacy of atypical antipsychotics and polymorphism of dopamine D3 receptor in schizophrenia]

SZEKERES György, JUHÁSZ Anna, KÉRI Szabolcs, RIMANÓCZY Ágnes, SZENDI István, SZABÓ Zoltán, JANKA Zoltán

[Object - Numerous relevant variants of dopamine receptors have been identified in schizophrenia. The Ser9Gly gene polymorphism of dopamine D3 receptor is known as a susceptibility factor for the disease. In addition, it has a role in the modification of therapeutic effect of antipsychotics. In this naturalistic study the authors investigated the relationship between this polymorphism and the therapeutic response to atypical antipsychotics. Method - 75 patients with schizophrenia according to DSM-IV and 45 healthy controlls were recruited. The patients were divided to responder and nonresponder subgroups, cut-off: >20 point improvement in Global Assessment of Functioning. By polymerase chain reaction the genotype of dopamine D3 receptor of every participant was determined. Results - The Ser9Ser genotype of dopamine D3 receptor was more frequent in the nonresponder subgroup (64%, p=0.0018). The Ser9 allele was overrepresented among nonresponder patients (82%, p=0.0172). Conclusion - Based on our results, the worse therapeutic response to atypical antipsychotics is associated with Ser9 variant of dopamine D3 receptor.]

Clinical Neuroscience

MAY 30, 2008

[Affective and cognitive decision making in major depression: influence of the prefrontal cortex, serotonin transporter genotype and personality traits]

MUST Anita, HORVÁTH Szatmár, JANKA Zoltán

[Patients with major depressive disorder (MDD) show neuropsychological impairments, including deficient executive functions and suboptimal decision-making strategies, which are mediated by several brain regions. In the development of these symptoms the pathology of the prefrontal cortex (PFC), including the dorsolateral, ventromedial and orbitofrontal regions, may also play an important role. Neuropsychological assessment is a useful tool in detecting and measuring these deficiencies, showing that patients with MDD exhibit altered sensitivity to reward and punishment. However, impairment of emotional decisionmaking strategies in MDD is influenced by genetic variations (5-HTTLPR polymorphism) and personality traits, which seem to have a higher predictive value on decision making performance than the clinical symptoms.]