Balkan Journal of Medical Genetics最新文献_第10页

Increased Expression of Cardiotrophin-1 in Cardiomyopathy Patients. 心肌病患者心肌营养因子-1表达升高。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0008

S Sharif, A Saleem, S Naz, F Rashid, M Iqtedar, A Kaleem, A Latif

{"title":"Increased Expression of Cardiotrophin-1 in Cardiomyopathy Patients.","authors":"S Sharif, A Saleem, S Naz, F Rashid, M Iqtedar, A Kaleem, A Latif","doi":"10.2478/bjmg-2021-0008","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0008","url":null,"abstract":"Cardiomyopathy (CM) is a condition of cardiac dysfunction. It is one of the leading causes of mortality in which both genetic and environmental factors are involved. Cardiotrophin-1 (CT-1) level in plasma is associated with CM. It affects the cardiomyocyte differentiation. To evaluate the expression of CT-1 in cardiomyopathy, this study was done on CM subjects attending the Fatima Memorial Hospital, Lahore, Pakistan, between January and June, 2016. A total of 40 subjects were enrolled who were divided into two groups; CM group (n = 20) and a control group (n = 20). A self-designed questionnaire was filled in by each subject to collect data regarding age, body mass index (BMI) and CM history. RNA was isolated from blood after its quantification, cDNA was prepared and reverse-transcriptase-polymerase chain reaction (RT-PCR) was performed for expression of CT-1. The mean age in CM subjects was 40.1±6.03 years, while it was 35.0±3.7 years in the control group. The mean expression of CT-1 in the CM subjects was 5.2±0.66, while it was 1.00±0.001 in the control group. A highly significant difference was observed in CT-1 expression in the CM group, and expression was significantly correlated with age and BMI in CM subjects.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"21-26"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c5/ba/bjmg-24-021.PMC8366478.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39357172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience. 史密斯-莱姆利-奥皮茨综合症:波斯尼亚和黑塞哥维那的经验。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0002

N Begic, Z Begic, E Begic

引用次数: 3

Dual Effect of the GHRL Gene Variant in the Molecular Pathogenesis of Obesity. GHRL基因变异在肥胖分子发病机制中的双重作用。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0011

E Becer, M C Ergoren

{"title":"Dual Effect of the GHRL Gene Variant in the Molecular Pathogenesis of Obesity.","authors":"E Becer, M C Ergoren","doi":"10.2478/bjmg-2021-0011","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0011","url":null,"abstract":"Obesity is as a global health problem due to its interaction with complex chronic disorders such as cardiovascular disorders, type 2 diabetes mellitus (T2DM) and cancer. Despite the fact that pathogenesis of obesity is not yet clearly understood, it is associated with a combination of psychological, environmental and various genetic factors. Here, employing a case-control design, we aimed to examine the effects of the GHRL c.152C>T (p.Arg51Gln) (rs34911341) and c.214G>T (p.Leu72Met) (rs696217) markers on susceptibility to obesity in a Turkish-Cypriot population, as well as to evaluate whether these markers affect biochemical parameters and show their putative functional consequences. This study involved 211 Turkish-Cypriot subjects (106 obese and 95 non obese). Genotyping for the GHRL gene polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Our results indicate that the GHRL Leu72Met polymorphism was found to be significantly higher in obese patients, with respect to genotypic (p = 0.0012) and allelic (p = 0.0005) frequencies. Strikingly, the rs696217 GT genotype (heterozygous) had significantly lower serum high-density lipoprotein cholesterol (HDL-C) (p = 0.015) than GG (wild type) genotypes. Overall, Leu72Met susceptibility variant may be considered as risk and crucial marker for both obesity and cholesterol metabolism in the community of Turkish-Cypriots. Thus, the dual effect of the GHRL gene Leu72Met variant may be used for clinical diagnosis.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"27-34"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0e/83/bjmg-24-027.PMC8366472.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Mutation Status and Immunohistochemical Correlation of EGFR Mutations in Gastrointestinal Stromal Tumors. 胃肠道间质瘤中EGFR突变的突变状态及免疫组化相关性

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0006

H Ozkayalar, M C Ergoren, G Tuncel, S Kurt, E Cevik, S Ozemri Sag, B Yilmaz Ozguven, F Kabukcuoglu, G Mocan, Ş G Temel

{"title":"Mutation Status and Immunohistochemical Correlation of EGFR Mutations in Gastrointestinal Stromal Tumors.","authors":"H Ozkayalar, M C Ergoren, G Tuncel, S Kurt, E Cevik, S Ozemri Sag, B Yilmaz Ozguven, F Kabukcuoglu, G Mocan, Ş G Temel","doi":"10.2478/bjmg-2021-0006","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0006","url":null,"abstract":"Being one of the leading causes of cancer deaths worldwide and their resistance to conventional treatment methods, made gastrointestinal stromal tumors (GISTs) one of the hot topics in medical research areas in the past decade. To investigate molecular alterations underlying the tumor is of great importance to be able to develop new, targeted treatment options. In this study, GIST samples obtained from 40 Turkish patients were analyzed for actionable epidermal growth factor receptor (EGFR) mutations that are related to treatment regimes in non small cell lung cancer (NSCLC) to understand whether EGFR expression is altered in GISTs. Established alterations in EGFR can make the use of tyrosine kinase inhibitors possible, which are currently used in cancer therapy, especially in NSCLC. Our results indicated that EGFR mutations are rare in GISTs. Further research is needed to sequence whole coding regions of the gene to investigate new actionable mutations in EGFR in an increased sample size.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"67-72"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8d/b5/bjmg-24-067.PMC8366477.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience. 家族性非典型溶血性尿毒症伴CFH基因p.S1191L阳性(c.3572C>T)突变:单中心经验

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0007

F Ersoy Dursun, G Yesil, G Sasak, H Dursin

{"title":"Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.","authors":"F Ersoy Dursun, G Yesil, G Sasak, H Dursin","doi":"10.2478/bjmg-2021-0007","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0007","url":null,"abstract":"The atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia and acute kidney injury (AKI), which can exhibit a poor prognosis. Complement factor H (CFH) gene mutations play a key role in this disease, which may be sporadic or familial. We studied 13 people from the same family, investigated for gene mutations of the familial aHUS after a family member presented to our emergency clinic with the aHUS and reported a family history of chronic renal failure. The p.S1191L mutation on the CFH gene was heterozygous in six people from the patient's family with the aHUS. One of these family members is our patient with acute kidney injury, and the other two are followed at the Nephrology Clinic, Medeniyat University, Goztepe Training and Research Hospital, Istanbul, Turkey, due to chronic renal failure. The other three family members showed no evidence of renal failure. The index case had a history of six sibling deaths; three died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment were administered to our patient. When the patient showed no response to this treatment, eculizumab (ECZ) therapy was started. The study demonstrated that thorough family history should be taken in patients with the aHUS. These patients may have the familial type of the disease, and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of ECZ as prophylaxis in posttransplant therapy is extremely important for preventing rejection.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"81-88"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/88/f9/bjmg-24-081.PMC8366473.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Duplication of Chromosome 16p13.11-p12.3 with Different Expressions in the Same Family. 染色体16p13.11-p12.3在同一家族中不同表达的重复。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0010

N Pop-Jordanova, T Zorcec, E Sukarova-Angelovska

{"title":"Duplication of Chromosome 16p13.11-p12.3 with Different Expressions in the Same Family.","authors":"N Pop-Jordanova, T Zorcec, E Sukarova-Angelovska","doi":"10.2478/bjmg-2021-0010","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0010","url":null,"abstract":"The knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple family members are caused by gene mutations, which can be inherited. Recently, array comparative genomic hybridization (aCGH) has identified sub microscopic deletions and duplications as a common cause of mental retardation and autism. In this article we report the occurrence of the same genetic finding (chromosome 16p13.11-p12.3 duplication) in a family with four small children, where two older siblings manifested a global neurodevelopmental delay associated with an autism spectrum disorder (ASD), but younger twin brothers with the same mutation, have typical development. Genetic analysis showed that the chromosomal duplication was inherited from the father, in which phenotype and functioning are quite typical. As is known, the duplication can pass from parents to children. The 16p13.11 micro duplication has been implicated in several neurodevelopmental and behavioral disorders and is characterized by variable expressivity and incomplete penetrance.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"89-94"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/05/bjmg-24-089.PMC8366479.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients. 希腊散发性先天性心脏病患者NFKB1、NKX2-5、GATA4和RANKL基因多态性的相关性研究

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0014

L Aidinidou, A Chatzikyriakidou, A Giannopoulos, V Karpa, I Tzimou, E Aidinidou, L Fidani

{"title":"Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients.","authors":"L Aidinidou, A Chatzikyriakidou, A Giannopoulos, V Karpa, I Tzimou, E Aidinidou, L Fidani","doi":"10.2478/bjmg-2021-0014","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0014","url":null,"abstract":"Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (-94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"15-20"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/0f/bjmg-24-015.PMC8366470.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39357171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome. 模拟家族性乳糜微粒血症综合征的1a型糖原储存病1例。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0013

A Olgac, I Okur, G Biberoğlu, F S Ezgü, L Tümer

引用次数: 1

Novel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in Three Generations of a Bulgarian Family. 一个保加利亚家族三代人COL11A1基因突变导致马歇尔-斯蒂克勒综合征

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0001

M Mladenova, T Todorov, L Grozdanova, V Mitev, A Todorova

{"title":"Novel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in Three Generations of a Bulgarian Family.","authors":"M Mladenova, T Todorov, L Grozdanova, V Mitev, A Todorova","doi":"10.2478/bjmg-2021-0001","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0001","url":null,"abstract":"Here we report the first familial case spread through at least three generations, genetically verified cases of Marshall-Stickler syndrome in Bulgaria. The proband, a 2-year-old girl, has craniofacial dysplasia, ocular hypertelorism, small saddle nose with a flat bridge and midface hypoplasia. The pedigree of the proband's family showed that her father has the same clinical manifestations of the disease. In addition, her father presented with a tall, thin stature and mild hearing loss, manifested with aging. The same dysmorphological symptoms were presented by the paternal grandfather. Both patients, the 2-year-old girl and her father, have been diagnosed to carry Marshall-Stickler syndrome. The COL2A1 gene tested negative in the family. Based on the higher percentage of mutations in the COL2A1 gene, we analyzed this gene as the first target in the family. The COL2A1 gene tested negative, and we sequenced the gene further. A novel splice site mutation c.3474+1G>A was found in intron 44. This variant is related to the clinical presentation in the patient and her father. The c.3474+1G>A mutation results in altered splicing affects at the donor splice site of intron 44, which most probably gives a nonfunctional protein. The variant affects the major triple-helical domain that represents a mutation hot-spot for the gene.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"95-98"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f8/57/bjmg-24-095.PMC8366474.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Simultaneously Both Expression of LMP-1 and Methylation of E-cadherin: Molecular Biomarker in Stage IV of Nasopharyngeal Carcinoma Patients. LMP-1的表达与e -钙粘蛋白甲基化:鼻咽癌IV期患者的分子生物标志物

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI: 10.2478/bjmg-2021-0005

T D Lao, P K Truong, H H Thieu, D H Nguyen, M T Nguyen, Tah Le

{"title":"Simultaneously Both Expression of LMP-1 and Methylation of E-cadherin: Molecular Biomarker in Stage IV of Nasopharyngeal Carcinoma Patients.","authors":"T D Lao, P K Truong, H H Thieu, D H Nguyen, M T Nguyen, Tah Le","doi":"10.2478/bjmg-2021-0005","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0005","url":null,"abstract":"The phenome of E-cadherin gene methylation and the expression of latent membrane protein 1 (LMP-1) gene are associated with nasopharyngeal carcinoma (NPC). In order to determine whether cooperative LMP-1 expression or methylation of E-cadherin could serve as the potential molecule biomarker target for diagnosis and therapy of NPC, a case-control study including 93 NPC biopsy samples and 100 non cancerous nasopharyngeal swab samples were examined, as well as the strength of association among them by the quantitative polymerase chain reaction (qPCR) and nested-methylation-specific PCR methods. The significantly higher frequency of LMP-1 expression and E-cadherin methylation in NPC biopsy samples, accounting for 76.34 and 73.12%, respectively, compared to non cancerous samples, accounting for 0.00 and 30.00%, respectively, were observed. The significant correlation between the LMP-1 expression and E-cadherin methylation in NPC samples was reported. In detail, in the stage IV of NPC, in case of LMP-1-positive samples, 35 of 37 samples (accounting for 94.60%) were positive for methylation of E-cadherin. It was demonstrated that cooperative LMP-1 expression and E-cadherin gene methylation could serve as a molecular biomarker in NPC.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":"24 1","pages":"57-66"},"PeriodicalIF":0.6,"publicationDate":"2021-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/66/bjmg-24-057.PMC8366468.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3