Abstract:
OBJECTIVE:Familial atrial fibrillation (FAF), a not uncommon arrhythmia of the atrium, is characterized by heritability, early onset and absence of other heart defects. The molecular and genetic basis is still not completely clear and genetic diagnosis cannot be achieved in about 90% of patients. In this study, we present the results of genetic screening by next generation sequencing in affected Russian families. PATIENTS AND METHODS:Sixty subjects (18 probands and 42 relatives) with a clinical diagnosis of FAF were enrolled in the study. Since AF frequently associates with other cardiomyopathies, we included all genes that were known to be associated with these disorders at the time of our study. All probands were therefore systematically screened for 47 genes selected from the literature. RESULTS:Our study revealed that seven variants co-segregated with the clinical phenotype in seven families. Interestingly, four out of six genes and three out of seven variants have already been associated with Brugada syndrome in the literature. CONCLUSIONS:To our knowledge, this is the first report of association of the CACNA1C, CTNNA3, PKP2, ANK2 and SCN10A genes with FAF; it is also the first study in Russian families.
journal_name
Eur Rev Med Pharmacol Scijournal_title
European review for medical and pharmacological sciencesauthors
Maltese PE,Aldanova E,Kriuchkova N,Averianov A,Manara E,Paolacci S,Bruson A,Miotto R,Sartori M,Guerri G,Zuntini M,Marceddu G,Tezzele S,Tadtaeva K,Chernova A,Aksyutina N,Nikulina S,Nodari S,Bertelli Mdoi
10.26355/eurrev_201909_18880subject
Has Abstractpub_date
2019-09-01 00:00:00pages
7582-7598issue
17eissn
1128-3602issn
2284-0729journal_volume
23pub_type
杂志文章abstract:OBJECTIVE:We investigated the value of the joint detection of tissue polypeptide antigen (TPA), ovarian cancer antigen X1 (OVX1), cathepsin L (CTSL) and CA125 on the early diagnosis of epithelial ovarian carcinoma (EOC). PATIENTS AND METHODS:From October 2011 to February 2015, 84 cases of patients under surgical treat...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:This study aims to illustrate the potential role of MAGI1-IT1 in the progression of non-small cell lung cancer (NSCLC) and the underlying mechanism. PATIENTS AND METHODS:The relative level of MAGI1-IT1 in normal lung tissues and NSCLC tissues was determined. Its level in NSCLC patients with different tumor s...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202001_20046
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:Several long noncoding RNAs (lncRNAs) display functional effects in the tumorigenesis and progression of cervical cancer (CC). We aimed to investigate the roles of lncRNA tyrosine protein kinase transmembrane receptor 1 antisense RNA 1 (ROR1‑AS1) in the development of CC patients. PATIENTS AND METHODS:Revers...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202003_20656
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:On December 8, 2019, many cases of pneumonia with unknown etiology were first reported in Wuhan, China, subsequently identified as a novel coronavirus infection aroused worldwide concern. As the outbreak is ongoing, more and more researchers focused interest on the COVID-19. Therefore, we retrospectively anal...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202003_20712
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:To analyze the effect of serum levels of high molecular weight adiponectin (HMWA) on the occurrence of eclampsia during subsequent pregnancy in patients with primary pregnancy-induced hypertension (PIH). PATIENTS AND METHODS:Thirty patients with primary PIH (observation group) and sixty patients without prim...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:To explore the safety and efficiency of transvaginal surgical treatment of cesarean scar pregnancy (CSP). PATIENTS AND METHODS:A retrospective analysis of 54 CSP patients that received treatment in our hospital from October 2011 to September 2015 was performed, dividing two groups: Group A (n=34) received tr...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2017-06-01 00:00:00
abstract:OBJECTIVE:Patients with severe burns often develop acute lung injury (ALI), systemic inflammatory response syndrome (SIRS) often complicates with ALI. Sivelestat sodium hydrate is an effective drug against ALI. However, the mechanisms of this beneficial effect are still poorly understood. In the current study, we evalu...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2016-01-01 00:00:00
abstract::We have studied the temporal bones of 4 deceased donors, individuals one with cochlear saccular degeneration, another with Mondini dysplasia, another with an ossification of the basal turn of the cochlea and the round window, post meningitis and the fourth who was implanted 10 years before. The indications and contrai...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract:OBJECTIVE:This study aims to explore the ocular surface of late stage eye burns by impression cytology (IC) and analyze the cytological changes and their relationship to ocular surface abnormalities. PATIENTS AND METHODS:68 eyes with late stage eye burns (thermal burn: 28 eyes; alkali burn: 26 eyes; acid burn: 14 eyes...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:Crohn's disease (CD) is a chronic inflammatory bowel disease that can affect the entire gastrointestinal tract. Cardiac involvement is considered very rare. Pericarditis, myocarditis, endocarditis, cardiomyopathy and complete heart block are some of the cardiac extraintestinal manifestations of CD. The aim of...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:The aim of the study is to explore the potential familial hypercholesterolemia markers by comparing with healthy controls. MATERIAL AND METHODS:We downloaded the gene expression profile GSE13985 from Gene Expression Omnibus database including five patients diagnosed with familial hypercholesterolemia (FH) an...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:This study aims to investigate whether circ-VANGL1 can promote the progression of osteoporosis (OP) by absorbing miRNA-217 to regulate RUNX2 expression. PATIENTS AND METHODS:The serum levels of circ-VANGL1, miRNA-217 and RUNX2 in OP patients and non-OP patients were detected by quantitative Real Time-Polymer...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_201902_16981
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVE:Osteoarthritis (OA) is one of the most common chronic joint diseases, caused by lesions in articular cartilage and synovial membranes. Synovitis is a major characteristic of OA, due to the proliferation of synoviocytes. Long noncoding RNAs (lncRNAs) have implicated to play an important role in many different ...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_201808_15705
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To provide selectable microRNA for intervening diabetes mellitus diseases, NOD mice's expression of microRNA in pancreas tissues and blood under the exendin-4 intervention of was observed and the difference of microRNA target gene was screened. MATERIALS AND METHODS:Forty clean NOD mice were randomly divided...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2016-10-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to explore whether long non-coding RNA AGAP2-AS1 (AGAP2-AS1) could serve as a novel biomarker for non-small-cell lung cancer (NSCLC). PATIENTS AND METHODS:Cancer and matched normal lung tissues were collected from 198 patients. AGAP2-AS1 levels were examined by RT-PCR, and the a...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:GSK-3β negatively regulates Wnt/β-catenin signaling pathway. The abnormal miR-155 expression is associated with bladder cancer. Bioinformatics analysis revealed a complementary binding site between miR-155 and GSK-3β mRNA. This study investigated the role of miR-155 in the proliferation and apoptosis of bladd...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_201907_18305
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate the effect of 5-fluorouracil mobilized bone marrow regenerative cells (BMRCs) transplantation on brain injury following focal cerebral ischemia and to explore the mechanisms. MATERIALS AND METHODS:Male Sprague-Dawley rats were subjected to middle cerebral artery occlusio...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,收录出版
doi:
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:Chronic Heart Failure (CHF) is associated with multi-hormonal derangement depicting a prevalence of catabolic vs. anabolic axes. Moreover, thyroid adaption is characterized by the reduced conversion of thyroxine to the active hormone triiodothyronine. On the other hand, hormones modulate synthesis and utiliza...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,评审
doi:10.26355/eurrev_201806_15279
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:This study aimed to clarify the impact of delayed adjuvant therapy on the outcome of HPV associated oropharyngeal squamous cell carcinoma (HPV-OPSCC). PATIENTS AND METHODS:A total of 157 patients with HPV-OPSCC treated by surgery and adjuvant radiotherapy or chemoradiation therapy were analyzed retrospective...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202002_20173
更新日期:2020-02-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to clarify the role of N-terminal pro-brain natriuretic peptide, (NT-proBNP) in ibuprofen on preterm infants with patent ductus arteriosus (PDA). PATIENTS AND METHODS:Preterm infants with PDA were enrolled in the present study. Patients were randomized into two groups: ibuprofen gro...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To explore the mechanism of RET gene mediated EGFR signaling pathway on the epithelial-mesenchymal transition (EMT), proliferation and apoptosis of papillary thyroid carcinoma (PTC) cells. PATIENTS AND METHODS:PTC TPC-1 cells and human normal thyroid follicular epithelial cells Nthy-ori 3-1 were collected to...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202008_22487
更新日期:2020-08-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate the effect of ulinastatin (UTI) on myocardial ischemia-reperfusion injury (MIRI) through the c-Jun N-terminal kinase (JNK) signaling pathway and p38 mitogen-activated protein kinase (MAPK) signaling pathway. MATERIALS AND METHODS:Healthy adult male Sprague-Dawley (SD)...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_201910_19183
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To investigate the expression of circ_0072309 in patients with ischemic stroke (IS) and in LIFR humanized mice with middle cerebral artery occlusion (MCAO). Further, we explored the underlying mechanism of circ-0072309 in IS. MATERIALS AND METHODS:The content of circ-0072309 in serum of patients with IS (n =...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202004_21024
更新日期:2020-04-01 00:00:00
abstract:OBJECTIVE:Indoleamine 2,3-dioxygenase (IDO) initiated tryptophan degradation in the placenta has a role in the prevention of allogeneic fetus rejection by T-cells. The present study aimed to investigate the relationship between IDO and CD4+CD25+Foxp3+ T cells in pregnant mice. MATERIALS AND METHODS:The percentage of C...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:To clarify the role of microRNA-183-5p in the malignant progression of osteosarcoma (OS) and the potential mechanism. PATIENTS AND METHODS:Relative level of microRNA-183-5p in 40 paired OS tissues and matched normal tissues was determined by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). Correla...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_201910_19127
更新日期:2019-10-01 00:00:00
abstract:OBJECTIVE:To investigate the effectiveness of tranexamic acid (TA) application in two techniques: in the first one wound closure is performed before the tourniquet is released; in the second one, wound closure is performed after the tourniquet is released. PATIENTS AND METHODS:The study is conducted on four groups of ...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章,随机对照试验
doi:10.26355/eurrev_201809_15952
更新日期:2018-09-01 00:00:00
abstract:OBJECTIVE:To investigate the influence of procyanidins on the impairment of memory. MATERIALS AND METHODS:Thirty male C57bl/6 mice were divided into five groups: low, middle, and high concentration, model, and control groups. Intracerebroventricular injection of β-amyloid25-35 in C57bl/6 mice caused an impairment of l...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:The study reported here discusses the duration of the generalized tonic-clonic seizures (GTCS) among frontal lobe epilepsy (FLE), medial temporal lobe epilepsy (MTLE) and idiopathic generalized epilepsy (IGE). PATIENTS AND METHODS:The study was done by analyzing the data from patients who had undergone video...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:To investigate the correlations of Homocysteine (Hcy), vascular endothelial growth factor (VEGF), and serum gastrin 17 (G17) with gastric cancer and precancerous lesions. PATIENTS AND METHODS:A total of 56 patients with gastric cancer (gastric cancer group) and 53 patients with precancerous lesions (precance...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_201905_17922
更新日期:2019-05-01 00:00:00
abstract:OBJECTIVE:This study aims to investigate the potential regulatory effect of forkhead box M1 (FOXM1) on laryngeal carcinoma (LC) and the underlying mechanisms. PATIENTS AND METHODS:Tumor tissues were obtained from 80 patients diagnosed with LC in our hospital. Quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) ...
journal_title:European review for medical and pharmacological sciences
pub_type: 杂志文章
doi:10.26355/eurrev_202006_21667
更新日期:2020-06-01 00:00:00