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Balkan Journal of Medical Genetics: BJMG

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https://www.readbyqxmd.com/read/28924546/sirenomelia-associated-with-hypoplastic-left-heart-in-a-newborn
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/28924540/analysis-of-meiotic-segregation-patterns-and-interchromosomal-effects-in-sperm-from-13-robertsonian-translocations
#7
B Wang, B Nie, D Tang, R Li, X Liu, J Song, W Wang, Z Liu
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924539/genetic-polymorphisms-of-hemostatic-factors-and-thrombotic-risk-in-non-bcr-abl-myeloproliferative-neoplasms-a-pilot-study
#8
R Dambrauskienė, R Gerbutavičius, R Ugenskienė, R Jankauskaitė, A Savukaitytė, R Šimoliūnienė, M Rudžianskienė, R Gerbutavičienė, E Juozaitytė
The most important complications of Philadelphianegagive (non BCR-ABL) myeloproliferative neoplasms (MPNs) are vascular events. Our aim was to evaluate the effects of single nucleotide polymorphisms (SNPs), platelet glycoproteins (GPs) (Ia/IIa, Ibα, IIb/IIIa and VI), von Willebrand factor (vWF), coagulation factor VII (FVII), β-fibrinogen, and the risk of thrombosis in patients with non BCR-ABL MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Genotyping was done for 108 patients. The TT genotype of the GP Ia/IIa c...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924538/molecular-and-immunohistochemical-characteristics-of-complete-hydatidiform-moles
#9
K B Kubelka-Sabit, I Prodanova, D Jasar, G Bozinovski, V Filipovski, S Drakulevski, D Plaseska-Karanfilska
Molar pregnancy is a gestational trophoblastic disease that belongs to the category of precancerous lesions. On the other end of the spectrum are gestational trophoblastic neoplasms such as invasive mole, choriocarcinoma, placental site trophoblastic tumor and epithelioid trophoblastic tumor, which are considered malignant tumors. Based on defined histopathological criteria, molar pregnancy is divided into partial and complete hydatidiform mole. Especially in the case of early complete mole, the diagnosis can be quite challenging and often necessitates additional molecular or immunohistochemical methods...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924537/inherited-thrombophilias-could-influence-the-reproductive-outcome-in-women-with-systemic-lupus-erythematosus
#10
R Robeva, D Tanev, S Andonova, M Nikolova, A Tomova, Ph Kumanov, A Savov, R Rashkov, Zl Kolarov
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924536/genetic-analyses-of-the-nf1-gene-in-turkish-neurofibromatosis-type-i-patients-and-definition-of-three-novel-variants
#11
S D Ulusal, H Gürkan, E Atlı, S A Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924535/benign-pathogenic-and-copy-number-variations-of-unknown-clinical-significance-in-patients-with-congenital-malformations-and-developmental-delay
#12
M Mihaylova, R Staneva, D Toncheva, M Pancheva, S Hadjidekova
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289596/a-novel-intronic-splice-site-tafazzin-gene-mutation-detected-prenatally-in-a-family-with-barth-syndrome
#13
M Bakšienė, E Benušienė, A Morkūnienė, L Ambrozaitytė, A Utkus, V Kučinskas
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 of the TAZ gene that was detected prenatally.
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289595/case-report-of-a-novel-mutation-of-the-eya1-gene-in-a-patient-with-branchio-oto-renal-syndrome
#14
L Spahiu, B Merovci, V Ismaili Jaha, A Batalli Këpuska, H Jashari
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#15
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289593/is-c-1431-12g-a-a-common-european-mutation-of-spink5-report-of-a-patient-with-netherton-syndrome
#16
R Śmigiel, B Królak-Olejnik, D Śniegórska, A Rozensztrauch, A Szafrańska, M M Sasiadek, K Wertheim-Tysarowska
Netherton Syndrome (NS) is a very rare genetic skin disease resulting from defects in the SPINK5 gene (encoding the protease inhibitor lympho-epithelial Kazal type inhibitor 1, LEKTI1). In this report, we provide a detailed clinical description of a Polish patient with two SPINK5 mutations, the novel c.1816_1820+21delinsCT and possibly recurrent c.1431-12G>A. A detailed pathogenesis of Netherton Syndrome, on the basis of literature review, is discussed in the view of current knowledge about the LEKT1 molecular processing and activity...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289592/associations-of-biochemical-changes-and-maternal-traits-with-mutation-1843-c-t-in-the-ryr1-gene-as-a-common-cause-for-porcine-stress-syndrome
#17
Z T Popovski, B Tanaskovska, E Miskoska-Milevska, S Andonov, S Domazetovska
Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS)...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289591/the-genetic-background-of-southern-iranian-couples-before-marriage
#18
A Nariman, M R Sobhan, M Savaei, E Aref-Eshghi, R Nourinejad, M Manoochehri, S Ghahremani, F Daliri, K Daliri
Genetic service for couples plays an increasingly important role in diagnosis and risk management. This study investigated the status of consanguinity and the medical genetic history (effectiveness and coverage of medical genetic services) in couples residing in a city in southern Iran. We questioned couples who were referred to Behbahan Marital Counseling Center, Behbahan, Iran, during the period from January to November 2014, to obtain information on consanguinity, disease history, and previous referral to a medical genetics center...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289590/susceptibility-to-oral-squamous-cell-carcinoma-correlation-with-variants-of-cyp1a1-mspi-gstt1-gstm1-aldh2-ec-sod-and-lifestyle-factors
#19
T-T Dong, L-J Wang, L-Z Liu, S-N Ma
In order to investigate the association between polymorphisms in genes encoding metabolizing enzymes (CYP1A1-MspI, EC-SOD (extracellular superoxide dismutase), GSTT1, GSTM1, ALDH2), cigarette and alcohol consumption, and the risk of oral squamous cell carcinoma, we conducted a prospective case-control study comprised of 750 individuals with oral squamous cell carcinoma (OSCC) and 750 healthy individuals. Data about smoking and drinking habits were collected along with other demographic and clinical information...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28289589/polymorphism-of-the-il13-gene-may-be-associated-with-uterine-leiomyomas-in-slovenian-women
#20
J Krsteski, S Jurgec, M Pakiž, I But, U Potočnik
Uterine leiomyomas (ULM) are a common cause of solid pelvic tumors in women. Their etiopathogenesis remains unclear. Interleukins (ILs) and their receptors can influence tumor biology of ULM. The aim of this study was to evaluate single nucleotide polymorphisms (SNPs) exhibited in the genes IL4 (rs2070874), IL4R (rs1801275), IL12RB1 (rs11575934), IL12B (rs6887695), IL13 (rs20541) and IL23R (rs7517847) as risk factors for ULM in Slovenian women and to identify associations between corresponding clinical parameters and the analyzed SNPs...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
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