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Lege Artis Medicinae

JULY 01, 2020

[The significance of the identification of SARS-CoV-2 virus and the possible errors of the sampling method]

NOSZEK László

[The COVID-19 pandemic caused by SARS-CoV-2 virus while emerging suddenly and spreading throughout the globe challenged seriously also the modern medicine. Diag­nostic methods recognising viral infections of the upper airways developed essentially in the last 20 years, and it was specifically progressing during the SARS and MERS epidemics thus facilitating the recognition and identifica­tion of infections by influenza, RS- and adenoviruses as well. Nevertheless the present novel coronavirus (SARS-CoV-2) also de­mon­strated that the relatively simple procedures of naso- and oropharyngeal sampling are fallible too. Thus they may have a relatively high risk of false-negative outcomes. However the correct sampling prior the RT-PCR tests provides reliable diagnosis by high sensitivity and specificity. Thus improving the quality of sampling and avoiding failures by correct training and education of the personnel make more reliable the detection of viral infection or indicate recovery after the infection. Finally, this is a key issue while overcoming the present pan­demic.]

Clinical Neuroscience

MAY 30, 2019

The methylation status of NKCC1 and KCC2 in the patients with refractory temporal lobe epilepsy

UNAL Yasemin, KARA Murat, GENC Fatma, OZTURK Aslan Dilek, GÖMCELI Bicer Yasemin, KAYNAR Taner, TOSUN Kursad, KUTLU Gülnihal

Purpose - Methylation is a key epigenetic modification of DNA and regarding its impact on epilepsy, it is argued that “DNA methylation may play an important role in seizure susceptibility and maintenance of the disorder”. DNA methylation status of KCC2 (SCL12A5) and NKCC1 (SCL12A2) associated with refractory temporal lobe epilepsy was investigated in our study. Materials and methods - Thirty-eight patients with temporal lobe epilepsy (TLE) who were diagnosed by video EEG monitoring and 32 healthy control subjects were included in the study. Twenty-three patients in TLE group were men and the remaining 15 were women. Among them, 27 had unilateral temporal focus (9 with right; 18 with left) and 11 patients had bilateral TLE. We analyzed promoter region methylation status of the KCC2 (SCL12A5) and NKCC1 (SCL12A2) genes in the case and control groups. Gene regions of interest were amplified through PCR and sequencing was accomplished with pyro-sequencing. Results - We found a significant relationship between TLE and methylation on the NKCC1. However, there was no association between TLE and methylation on the KCC2 gene. Also, we found no association between right or left and unilateral or bilateral foci of TLE. There was no relationship between TLE and methylation on the NKCC1and KCC2 genes in terms of mesial temporal sclerosis in cranial MRI, head trauma or febrile convulsions. Conclusion - The methylation of NKCC1 can be a mecha­nism of refractory temporal lobe epilepsy. There are limited findings about DNA methylation in TLE. Therefore, further studies with large sample sizes are necessary.

Clinical Oncology

FEBRUARY 10, 2018

[Treatment of locally advanced rectum cancer]

FRÖBE Ana, JURETIC Antonio, BROZIC Marić Jasmina, SOLDIC Zeljko, ZOVAK Mario

[Over the last several decades, local control (LC) for rectal cancer has markedly improved because of advances in surgical technique and the adoption of adjuvant or neoadjuvant chemoradiotherapy (CRT). Total mesorectal excision (TME) during surgical resection of localized rectal cancer, which involves removal of the entire circumferential perirectal tissue envelope, decreases rates of both involved surgical margins and local recurrences. Similarly, for patients with locally advanced rectal cancer (LARC), including T3 and T4 tumors and lymph node-positive disease, adjuvant and more preferably neoadjuvant CRT has exhibited the ability to both improve disease-free survival (DFS) and LC. Some patients undergoing neoadjuvant CRT achieve a complete pathologic response (pCR) to CRT and the oncologic outcomes are particularly favourable in this group. In contrast to improved local control, patients’ overall survival rates are in need of improvement, and the major factor limiting the outcome is the appearance of metachronous distant metastases. The main approach to overcome this issue is the escalation of systemic therapy in the neoadjuvant setting, e.g. by addition of induction or consolidation chemotherapy before or after neoadjuvant chemoradiotherapy (the so-called total neoadjuvant treatment, TNT, approach). The aim was to present a short overview of the role of radiotherapy and radiochemotherapy in the management of rectal cancer with a focus on current treatment stand wasards for locally advanced rectal cancer.]

Lege Artis Medicinae

MARCH 20, 2016

[Tuberculous meningoencephalitis in a toddler child]

REISZ Zita, GÁL Péter, TAJTI Zsanett, TERHES Gabriella, URBÁN Edit, KISS Ildikó, BARZÓ Pál, KIS Dávid, SENONER Zsuzsanna, SZABÓ Nóra, SZAPPANOS Norbert, TISZLAVICZ László

[INTRODUCTION - Central nervous system complications occur in 1% of patients with Mycobacterium tuberculosis infection, but the mortality is very high, about 50 percent. CASE REPORT - A 1-year-old child in tenebrous condition was admitted to the hospital with suspicion of meningitis. MRI detected disseminated encephalitis and dilated ventricles. Examination of the serum and cerebrospinal fluid didn’t bring any results. The microscopic examination of the brain biopsy raised the possibility of tuberculous meningoencephalitis, and the culture and PCR from the brain tissue revealed meningoencephalitis caused by Mycobacterium tuberculosis Beijing. DISCUSSION - Tuberculous meningitis is a very rare, but severe consequence of extrapulmonary tuberculosis. Due to the high mortality, early diagnosis and whenever suspected, the use of empiric antituberculotic therapy are the only chances of recovery.]

Clinical Oncology

FEBRUARY 10, 2015

[Neoadjuvant treatment of rectal cancer]

PINTÉR Tamás

[Rectal cancer due to its frequent local invasion, high recurrence rate and metastatic potential is a serious health problem, leading to decreased life quality, severe complaints and death. Treatment for locally advanced, resectable rectal cancer improved over the years. Various chemotherapy protocols and combinations with radiation therapy and radical surgery - total mesorectal excision (TMA) - are the main elements of current therapy. Preoperative combined chemoradiation followed by surgery is the preferred treatment sequence. Radiation treatment in combination with fl uoropyrimidines (infusional 5-fl uorouracil [5-FU] or oral capecitabine) is recommended. Clinical trials with oxaliplatin-based neoadjuvant chemoradiation did not improve the pathologic complete response rate (pCR). Oxaliplatin-based treatment was more toxic as compared with 5-FU. The data concerning local recurrence rate and survival are controversial. Adjuvant chemotherapy in some studies improved survival, so - based on positive results in colon cancer - adjuvant FOLFOX chemotherapy may be recommended.]

Clinical Oncology

DECEMBER 05, 2014

[Clinical role of multigenic prognostic tests in breast cancer therapy]

GYŐRFFY Balázs

[Current clinical practice for breast cancer originates in “evidence based medicine”. In this, each tumor receives a therapy optimal for a given patient population - which might not be optimal for each individual patient. Multigenic tests determining expression of a set of genes can provide additional support in this decision process. Two such tests (MammaPrint and Prosigna) have already received FDA clearance. A number of additional test are commercially available (IHC4, Oncotype DX, EndoPredict, BCI). A common property of these assays is their utility in estrogen receptor positive early breast cancer. The main clinical problem answered by them is the necessity of adjuvant chemotherapy. To date, no reliable algorithm has been identifi ed capable to pinpoint the most effective chemotherapy combination for a given patient. Furthermore, there is no trustworthy test for triple negative breast cancer. The assays utilize different technologies (immunohistochemistry, gene chips, RT-PCR) and a discrepant list of genes - these result in discordance of the predictions for the individual patient. Despite these shortcomings, multigenic tests quickly gained foothold in breast cancer therapy decision process. Their utility is supported by the cost reduction for the health care providers by lowering the number of patients eligible for chemotherapy.]

Hypertension and nephrology

DECEMBER 10, 2015

[Diagnostic of genetic factors affecting blood pressure and the genetic risk factorsof hypertension]

LACZIKÓ Dorottya, RÉPÁSI Eszter, RZEPIEL Andrea, KEREKES Éva, SHENKER-HORVÁTH Kinga, KOLLER Ákos, ELBERT Gábor, NAGY Zsolt B.

[Hypertension is a risk factor of cardiovascular and renal diseases. Although high blood pressure usually does not show symptoms, it can lead to serious health problems such as stroke or cardio and renal insufficiency. Globally 40% of adults over the age of 24 suffer from hypertension, and the risk increases with age. The incidence is more than 70% over 65 years of age. Environmental and genetic effects are jointly responsible for the onset of hypertension, thereby determining predisposing genes is extremely difficult. Genetic variations of several genes have been identified to increase the risk of hypertension. The most common hypertension susceptibility polymorphisms occur in AGT, AGTR1, ACE, NOS3 and CYP4A11 genes. Learning about polymorphisms has clinical importance both in prevention and therapeutic processes. Therapeutic and lifestyle recommendations can be individualized by using molecular genetic tests such us PCR, microarrays, real-time PCR.]

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.]

Hypertension and nephrology

DECEMBER 20, 2014

[Genetic diagnostics of the trombosis risk]

SZOKOLAI Viola, HARSÁNYI Gergely, VÉGH Csaba, ELBERT Gábor, TÚRI Sándor, NAGY Zsolt B.

[The cardiovascular system and the coalugation process play essential role in regulating the homestasis of the human body. Thrombuses may appear in veins (venous thrombosis) as well as arteries (arterial thrombosis) that may cause a wide range of ischemic vascular diseases. By mapping genetic risk factors that may accelarate the development of thrombosis, the quality of medical preventions and therapies can be improved. The most frequent gene mutations (FII, FV, PAI-1, MTHFR and EPCR gene polimorphisms) can be tested by methods based on PCR, real-time PCR and macroarray techniques. Professionals may use genetic results for selecting appropriate and optimal therapies based on the context of a patient’s medical history.]

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.]