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Balkan Journal of Medical Genetics: BJMG

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https://www.readbyqxmd.com/read/29876240/galactosialidosis-in-a-newborn-with-a-novel-mutation-in-the-ctsa-gene-presenting-with-transient-hyperparathyroidism
#1
Okulu E, Tunc G, Eminoglu T, Erdeve O, Atasay B, Arsan S
Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A ( CTSA ) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation on the CTSA gene...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876239/female-and-male-carriers-of-taz-mutations-need-to-be-thoroughly-investigated
#2
Finsterer J, Stollberger C
No abstract text is available yet for this article.
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876238/-epidermal-growth-factor-receptor-mutation-status-does-younger-mean-more-frequently-mutated
#3
Wójcik P, Krawczyk P, Chorostowska-Wynimko J, Reszka K, Duk K, Muszczyńska-Bernhard B, Pankowski J, Wojas-Krawczyk K, Czyżewicz G, Ramlau R, Skoczek M, Grenda A, Orłowski T, Grodzki T, Piwowar M, Roszkowski-Śliż K, Milanowski J
No abstract text is available yet for this article.
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876237/detection-of-allelic-variants-of-the-pole-and-pold1-genes-in-colorectal-cancer-patients
#4
Pätzold LA, Bērziņa D, Daneberga Z, Gardovskis J, Miklaševičs E
Incidence of colorectal cancer is high worldwide and it mostly occurs as an accumulation of environmental factors and genetic alterations. Hereditary colorectal cancer can develop as a part of a hereditary syndrome. There is a suspected correlation between colorectal cancer and allelic variants of the POLE and POLD1 genes. The aim of the present study was to look for associations between the allelic variants in the POLE and POLD1 genes and colorectal cancer. One thousand, seven hundred and forty-nine DNA samples from colorectal cancer patients were collected from 2002 to 2013...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876236/differential-expression-of-fgfrs-signaling-pathway-components-in-bladder-cancer-a-step-toward-personalized-medicine
#5
Ousati Ashtiani Z, Tavakkoly-Bazzaz J, Salami Sa, Pourmand Mr, Mansouri F, Mashahdi R, Pourmand G
Variations Improper activation and inappropriate expression of fibroblast growth factor receptors ( FGFRs ) in cancer suggests that they can act as therapeutic targets. Fibroblast growth factor receptor inhibitors are currently employed in clinical trials of different cancers. Regarding the essence and the importance of the personalized medicine, mainly mirrored by remarkable inter-individual variations in different populations, we aimed to perform a pilot study to address FGFR1 and FGFR3 expression levels and their correlation with the clinicopathological features in Iranian patients with bladder cancer (BC)...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876235/-superoxide-dismutase-1-and-2-gene-polymorphism-in-turkish-vitiligo-patients
#6
Tuna A, Ozturk G, Gerceker Tb, Karaca E, Onay H, Guvenc Sm, Cogulu O
Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been getting more important in recent years. One of the primary antioxidant enzymes in vitiligo is the superoxide dismutase (SOD). The aim of this study is to investigate the polymorphisms of the SOD1 and SOD2 in Turkish vitiligo patients. One hundred one vitiligo patients and 99 healthy controls without family history of vitiligo were included into the study...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876234/association-of-the-mmp7-181a-g-promoter-polymorphism-with-early-onset-of-chronic-obstructive-pulmonary-disease
#7
Tacheva T, Dimov D, Anastasov A, Zhelyazkova Y, Kurzawski M, Gulubova M, Drozdzik M, Vlaykova T
Chronic obstructive pulmonary disease (COPD) is characterized by decreased air flow and is associated with abnormal chronic inflammation in the airways and extensive tissue remodeling. Matrix metalloproteinase-7 (MMP7) is produced primarily by the epithelium of many organs, including the lungs. A functional MMP7 -181A>G (rs11568818) promoter polymorphism influences the binding of nuclear regulatory proteins modulating the transcription of the gene. In this study, we genotyped 191 patients with COPD for MMP7 -181A>G single nucleotide polymorphism (SNP) and 215 control subjects using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method and explored the role of that polymorphism as a risk factor for COPD...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876233/increased-frequency-of-mefv-genes-in-patients-with-epigastric-pain-syndrome
#8
Coskun Bd, Kiraz A, Sevinc E, Baspinar O, Cakmak E
Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS. Seventy-five patients with therapy-resistant EPS and 20 controls were involved in the study. To detect the FMF in patients with therapy-resistant EPS, Tel-Hashomer criteria, family history of FMF were researched and recorded...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876232/the-mitochondrial-coi-trna-ser-ucn-g7444a-mutation-may-be-associated-with-hearing-impairment-in-a-han-chinese-family
#9
Ding Y, Xia B-H, Teng Y-S, Zhuo G-C, Leng J-H
Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNASer(UCN) are the hot-spots for pathogenic variants associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) variants in hearing loss, we recently screened the variants in mitochondrial genomes in patients with deafness from the Hangzhou area of Zhejiang Province, People's Republic of China (PRC). In this study, we describe a maternally-inherited Han Chinese family with high penetrance of hearing loss, notably, the penetrance of hearing loss in this family were 80...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876231/polymorphism-of-the-adrb2-rs1042713-gene-is-not-associated-with-spontaneous-preterm-birth-analyses-in-a-slovenian-sample-and-meta-analysis
#10
Peterlin A, Maver A, Jan Z, Lovrecic L, Tul N, Peterlin B
The β-2-adrenergic receptor ( ADRB2 ) gene has an important impact on smooth muscle relaxation, including the smooth muscles of the uterus. The results of previously published studies of the association between the ADRB2 rs1042713 polymorphism and spontaneous preterm birth (SPTB) were inconsistent. We evaluated the association between ADRB2 and SPTB in a case-control association study in a Slovenian sample population and performed a meta analysis of previously published studies. No association was found between the polymorphism in the ADRB2 gene and SPTB in the Slovenian sample of 98 SPTB patients and 135 controls under dominant [χ2 = 0...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876230/association-between-osteoprotegerin-gene-polymorphisms-and-risk-of-coronary-artery-disease-a-systematic-review-and-meta-analysis
#11
P Jia, N Wu, D Jia, Y Sun
Osteoprotegerin (OPG) has been demonstrated to be a novel biomarker for predicting prevalence and severity of coronary artery disease (CAD). Furthermore, recent studies have shown that OPG gene polymorphisms are associated with a susceptibility to CAD. However, published studies showed inconsistent results. Therefore, a meta-analysis of eligible studies reporting the association between OPG gene polymorphisms and CAD was carried out. A systematic search was conducted using PubMed, Web of Science, Cochrane Library, Chinese National Knowledge Infrastructure (CNKI) and Chinese Wan Fang databases...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876229/molecular-characterization-of-iranian-patients-with-inherited-coagulation-factor-vii-deficiency
#12
Shahbazi S, Mahdian R, Karimi K, Mashayekhi A
Coagulation factor VII (FVII) is a key enzyme of the extrinsic coagulation cascade that is predominantly produced by hepatocytes. The F7 gene mutations cause FVII deficiency with considerable molecular and phenotypic heterogeneity. We characterized the molecular alterations of the F7 gene and their corresponding mRNA transcripts in Iranian patients from eight unrelated families. The mutations were detected by polymerase chain reaction (PCR)-sequencing of all F7 gene exons, their flanking intronic sequences, as well as their corresponding cDNA fragments...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876228/association-between-inherited-thrombophilia-in-pregnancy-and-micronucleus-frequency-in-peripheral-blood-lymphocytes
#13
Šošić Gm, Jović N, Rakić B, Dimitrijević A, Varjačić M
The aim of this study was to determine possible predictors of an increased frequency of micronucleus (MN) and the impact of thrombophilia on the chromosomal instability in peripheral blood lymphocytes (PBL) of pregnant women in their first trimester. This study was designed as a case-control study on 74 pregnant women. It was performed in the gestational age of 11 to 14 weeks, when blood samples were collected and incubated for 72 hours. The individual MN frequency in PBL was measured by cytokinesis-block micronucleus (CBMN) assay...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29876227/association-of-placenta-previa-with-a-history-of-previous-cesarian-deliveries-and-indications-for-a-possible-role-of-a-genetic-component
#14
Matalliotakis M, Velegrakis A, Goulielmos Gn, Niraki E, Patelarou Ae, Matalliotakis I
A prior Cesaria section (C-section) is an important risk factor that leads to endometrial damage and abnormal implantation of the placenta. Our retrospective study aims to correlate the frequency of placenta previa to previous C-sections, to determine the effect of male gender in this condition and to evaluate further the maternal outcome. Seventy-six cases with placenta previa were selected out of 5200 live births. Diagnosis was confirmed by ultrasound and in the operating theater. In the 76 women examined, we found 50 cases with a history of a previous C-section (66...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924546/sirenomelia-associated-with-hypoplastic-left-heart-in-a-newborn
#15
H Turgut, R Ozdemir, I K Gokce, C Karakurt, A Karadag
Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924545/x-autosome-and-x-y-translocations-in-female-carriers-x-chromosome-inactivation-easily-detectable-by-5-ethynyl-2-deoxyuridine-edu
#16
M Donat, A Louis, K Kreskowski, M Ziegler, A Weise, I Schreyer, T Liehr
Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosome inactivation was determined on single cell level using 5-ethynyl-2-deoxyuridine (EdU). Thus, we confirmed that the recently suggested EdU approach can be simply adapted for routine diagnostic use. The latter is important, as only by knowing the real pattern of the skewed X-chromosome inactivation, correct interpretation of obtained results and subsequent reliable genetic counseling, can be done...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924544/analysis-of-the-mitochondrial-4977-bp-deletion-in-patients-with-hepatocellular-carcinoma
#17
Z S Guo, C L Jin, Z J Yao, Y M Wang, B T Xu
Mutations in the mitochondrial (mt) genome that result in mt dysfunction, have long been proposed to play important roles in the pathogenesis of hepatocellular carcinoma (HCC). Among these, the common mtDNA 4977 bp deletion is one of the most frequent mutations observed in various cancers. To understand the relationship between the mtDNA 4977 bp deletion and HCC, we performed mutational screening for the presence of this deletion in 105 HCC patients and 69 unrelated healthy subjects. After nested-polymerase chain reaction (nested-PCR) amplification, we found that there were 10 patients carrying the mtDNA 4977 bp deletion, and this deletion was absent in control subjects...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924543/effect-of-the-pro12ala-polymorphism-of-the-peroxisome-proliferator-activated-receptor-%C3%AE-2-gene-on-lipid-profile-and-adipokines-levels-in-obese-subjects
#18
E Becer, A Çırakoğlu
Peroxisome proliferator-activated receptor γ (PPARγ) is a key regulator of metabolism, adipokines production and secretion. The aim of this study was to investigate the association between the PPARγ2 gene Pro12Ala polymorphism in obesity in terms of body mass index (BMI), lipid parameters, homeostasis model assessment of insulin resistance (HOMA-IR), serum lipid, leptin, adiponectin, resistin and chemerin levels. The study included 160 obese and 140 non obese subjects. The Pro12Ala polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924542/association-of-the-apolipoprotein-a-i-gene-polymorphisms-with-cardiovascular-disease-risk-factors-and-atherogenic-indices-in-patients-from-assam-northeast-india
#19
K Bora, M S Pathak, P Borah, Md I Hussain, D Das
Cardiovascular disease (CVD) risk factors, and particularly decreased high density lipoprotein cholesterol (HDL-C) dyslipidemia are prevalent in Assam, India. This study was undertaken to investigate whether Apolipoprotein A-I (APOA1) gene polymorphisms (G-75A and C+83T) were associated with i) the risk for decreased HDL-C, and ii) other CVD risk factors, viz. serum lipids, atherogenic indices, obesity, and blood pressure (BP). A total of 649 subjects were screened, from which 200 eligible individuals, classified as case group with decreased HDL-C levels (100 subjects) and control group with normal HDL-C levels (100 subjects) were enrolled and genotyped using polymersase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924541/the-lrp1-gene-polymorphism-is-associated-with-increased-risk-of-metabolic-syndrome-prevalence-in-the-serbian-population
#20
N Vučinić, E Stokić, I Djan, D Obreht, N Veličković, K Stankov, M Djan
The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual alleles of the LRP1 gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related (LRP1) gene polymorphism and each individual anthropometric and biochemical parameter. The study included 93 males and females, aged from 19 to 65, divided into two groups...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
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