205 results match your criteria Balkan journal of medical genetics : BJMG[Journal]


A Familial Case Report of a 13;22 Chromosomal Translocation with Recurrent Intracytoplasmic Sperm Injection Failure.

Balkan J Med Genet 2018 Dec 31;21(2):73-77. Epub 2018 Dec 31.

Department of Biotechnology, Shri Mata Vaishno Devi University (SMVDU), Katra, Jammu & Kashmir, India.

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454244PMC
December 2018
2 Reads

Prenatal Diagnosis of a New Case: Balanced Non-Robertsonian Translocation Involving t(15;22)(p11.2;q11.2).

Balkan J Med Genet 2018 Dec 31;21(2):69-72. Epub 2018 Dec 31.

Department of Gynecology and Obstetrics, Faculty of Medicine, Trakya University, Edirne, Turkey.

The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454237PMC
December 2018
5 Reads

A Novel Paracentric Inversion [inv(20)(q13.1q13.3)] Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability.

Balkan J Med Genet 2018 Dec 31;21(2):63-67. Epub 2018 Dec 31.

Laboratory of Health Physics, Radiobiology & Cytogenetics, NCSR "Demokritos", Athens, Greece.

A novel paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454239PMC
December 2018
1 Read

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics.

Balkan J Med Genet 2018 Dec 31;21(2):59-62. Epub 2018 Dec 31.

Department of Genomics, Hospital "Dr. Malinov," Sofia, Bulgaria.

Intellectual disability is affecting 3.0-4.0% of the general population. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454245PMC
December 2018
3 Reads

A Novel Mutation in a Newborn Baby Leading to Glycogen Storage Disease Type Ia.

Authors:
Dorum S Gorukmez O

Balkan J Med Genet 2018 Dec 31;21(2):55-57. Epub 2018 Dec 31.

Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the gene. The gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454238PMC
December 2018
2 Reads

The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli's Syndrome.

Balkan J Med Genet 2018 Dec 31;21(2):49-53. Epub 2018 Dec 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli's disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454240PMC
December 2018
3 Reads

Next Generation Sequencing Identified a Novel Multi Exon Deletion of the Gene in a Chinese Pedigree with Neurofibromatosis Type 1.

Balkan J Med Genet 2018 Dec 31;21(2):45-48. Epub 2018 Dec 31.

Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People's Republic of China Wuwei City, China.

Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the gene causes NF1. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454241PMC
December 2018
1 Read

Myotonic Dystrophy-2: Unusual Phenotype Due to a Small CCTG-expansion.

Balkan J Med Genet 2018 Dec 31;21(2):39-43. Epub 2018 Dec 31.

Laboratory for Human Genetics, Vienna, Austria.

Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454246PMC
December 2018
2 Reads

Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones.

Balkan J Med Genet 2018 Dec 31;21(2):35-38. Epub 2018 Dec 31.

Department of Nephrology, University Children's Hospital, Medical Faculty Skopje, Skopje, Republic of Macedonia.

Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D prophylaxis at the usual dose. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454243PMC
December 2018

Epigenetic Signature of Chronic Maternal Stress Load During Pregnancy Might be a Potential Biomarker for Spontaneous Preterm Birth.

Authors:
Rogac M Peterlin B

Balkan J Med Genet 2018 Dec 31;21(2):27-33. Epub 2018 Dec 31.

Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.

Preterm birth is the leading cause of mortality in newborn infants and can lead to significant neonatal morbidities. Spontaneous preterm birth accounts for at least 50.0% of all preterm births. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454236PMC
December 2018
2 Reads

The Frequency of EGFR and KRAS Mutations in the Turkish Population with Non-small Cell Lung Cancer and their Response to Erlotinib Therapy.

Balkan J Med Genet 2018 Dec 31;21(2):21-26. Epub 2018 Dec 31.

Medical Biology Department, Pamukkale University, Denizli Turkey.

In this study, profiles of epidermal growth factor receptor (EGFR) and Kirsten ras sarcoma (KRAS) mutations and response to erlotinib therapy have been investigated in patients with non-small cell lung cancer (NSCLC). DNA from 300 patients with NSCLC was extracted from paraf-fin-embedded tissues. After the extracted DNA was sequenced by pyrosequencing method, a total of 97 (32. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454234PMC
December 2018
1 Read

Determining Specific Thyroid Transcripts in Peripheral Blood: A Single Center Study Experience.

Balkan J Med Genet 2018 Dec 31;21(2):13-20. Epub 2018 Dec 31.

Institute for Forensic Medicine, Criminology and Medical Deontology, Medical Faculty, Skopje, Republic of Macedonia.

Thyroid carcinoma (TC) comprises a spectrum of different tumors with a wide range of biological behavior and prognosis. The techniques based on the latest trends in molecular biology may have application in diagnosis of metastatic TC. The aim of this study was to apply and analyze mRNA expression in peripheral blood of thyrotropin receptor [thyroid stimulating hormone receptor (-mRNA)] gene and thyroglobulin (-mRNA) gene using 2 method in differentiated TC patients and healthy individuals. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454242PMC
December 2018
1 Read

Investigation of Circulating Serum MicroRNA-328-3p and MicroRNA-3135a Expression as Promising Novel Biomarkers for Autism Spectrum Disorder.

Balkan J Med Genet 2018 Dec 31;21(2):5-12. Epub 2018 Dec 31.

Department of Plant Physiology and Molecular Biology, University of Plovdiv "Paisii Hilendarski," Plovdiv, Plovdiv, Bulgaria.

Circulating microRNAs (miRNAs) are emerging as promising diagnostic biomarkers for autism spectrum disorder (ASD), but their usefulness for detecting ASD remains unclear. Nowadays, development of promising biomarkers for ASD remains a challenge. Recently, dysregulation of the miRNAs expression in postmortem brain tissue, serum and peripheral blood, have been associated with ASD. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454235PMC
December 2018
1 Read

Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a 22q11.1q11.22 Duplication.

Balkan J Med Genet 2018 Jun 29;21(1):87-91. Epub 2018 Oct 29.

Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Santariskiu St. 4, LT 08406 Vilnius, Lithuania.

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231321PMC
June 2018
16 Reads

Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a Mutation and Review of the Literature.

Balkan J Med Genet 2018 Jun 29;21(1):83-86. Epub 2018 Oct 29.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein () gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231312PMC
June 2018
11 Reads

Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

Balkan J Med Genet 2018 Jun 29;21(1):77-81. Epub 2018 Oct 29.

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/HA syndrome are frequently not recognized in the first months of life. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231311PMC
June 2018
22 Reads

Problems of Unknown Significance: Counseling in the Era of Next Generation Sequencing.

Authors:
U Fahrioğlu

Balkan J Med Genet 2018 Jun 29;21(1):73-76. Epub 2018 Oct 29.

Department of Medical Biology, Faculty of Medicine, Near East University, Nicosia, Cyprus.

Dear Editor Next generation sequencing (NGS) has changed the way we approach the diagnosis, prognosis and treatment of genetic disorders. It gave us base pair (bp) precision, multi-gene approach that can be executed in a timely and cost-effective manner. Despite some minor technical issues in NGS, it comes with great advantages. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231316PMC

Mutation in Phospholipase C, δ1 () Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of the Literature.

Balkan J Med Genet 2018 Jun 29;21(1):69-72. Epub 2018 Oct 29.

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.

Human hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, δ1 (), on chromosome 3p22. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231310PMC

(TA) Promoter Genotype: Diagnostic and Population Pharmacogenetic Marker in Serbia.

Balkan J Med Genet 2018 Jun 29;21(1):59-68. Epub 2018 Oct 29.

Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231317PMC
June 2018
3 Reads

The Mitochondrial tRNA T10003C Mutation may not be Associated with Diabetes Mellitus.

Balkan J Med Genet 2018 Jun 29;21(1):53-57. Epub 2018 Oct 29.

Department of Endocrinology and Metabolism, People's Hospital of Zhengzhou University, Zhengzhou, Henan Province, Zhengzhou People's Republic of China.

Mitochondrial DNA (mtDNA) mutations have long been proposed to play important roles in the pathogenesis of diabetes mellitus (DM). A large proportion of these mutations are localized at the genes. Owing to its high mutation rate, a growing number of mt-tRNA mutations have been reported; however some of them are neutral genetic polymorphisms and will not result in the alteration of the mitochondrial function responsible for DM. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231318PMC

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Balkan J Med Genet 2018 Jun 29;21(1):47-52. Epub 2018 Oct 29.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, School of Medicine, University of Brescia, Brescia, Italy.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 () gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and/or aneurysms requiring difficult surgical procedures. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231313PMC
June 2018
11 Reads

PPAR𝛾 Gene and Atherosclerosis: Genetic Polymorphisms, Epigenetics and Therapeutic Implications.

Balkan J Med Genet 2018 Jun 29;21(1):39-46. Epub 2018 Oct 29.

Institute of Histology and Embryology, Faculty of Medicine University Ljubljana, Ljubljana, Slovenia.

Atherosclerosis is the leading cause of mortality and morbidity in the developed world. It is characterized by the formation of a plaque in the walls of middle and large arteries leading to macrovascular complications. Several risk factors are included, with diabetes being one of the most important for the onset and development of atherosclerosis. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231320PMC
June 2018
10 Reads

Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma.

Balkan J Med Genet 2018 Jun 29;21(1):33-38. Epub 2018 Oct 29.

Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.

Inhaled β2 adrenergic receptor (β2-AR) agonists are the mainstay of asthma therapy. The β2-AR protein is encoded by the gene and variants within this gene can have significant consequences for modulating the response to asthma therapy. This cross-sectional study performed at the University Children's Hospital in Belgrade, included 54 children with asthma. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231319PMC
June 2018
13 Reads

Association of E-selectin S128R Polymorphism with Hereditary Breast Carcinoma Susceptibility in Turkish Patients Without Germline Mutations.

Balkan J Med Genet 2018 Jun 29;21(1):27-31. Epub 2018 Oct 29.

Department of Medical Biology and Genetics, Maltepe University Faculty of Medicine, Istanbul, Turkey.

Inherited genetic factors play an important role in breast cancer susceptibility. The and mutations are the most well-known genetic factors associated with increased risk of breast cancer. E-selectin is a cell surface glycoprotein and its serum levels are known to increase in various cancers. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231309PMC
June 2018
20 Reads

Analysis of the Gene Expression Level Changes in Football Players in Response to the Training Cycle.

Balkan J Med Genet 2018 Jun 29;21(1):19-25. Epub 2018 Oct 29.

Department of Biomedicine and Genetics, Chair of Biology and Medical Microbiology, Medical University of Lodz, Lodz, Poland.

The gene codes protein that belongs to the peroxisome proliferator-activated receptor (PPAR) family engaged in a variety of biological processes, including lipid metabolism in muscle cells. In this study, we assess the relationship between gene expression lipid metabolism parameters and the variation of the gene expression before (T) and after 12 hours of training (T) sessions in a group of football players. Peripheral blood lymphocytes were obtained from 22 football players (17. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231314PMC

Detecting Mutations in Patients with Non-small Cell Lung Cancer.

Balkan J Med Genet 2018 Jun 29;21(1):13-17. Epub 2018 Oct 29.

Department of Medical Genetics, Medical University, Sofia, Bulgaria.

Mutations in the receptor of the epidermal growth factor receptor () in non-small cell lung cancer (NSCLC) are used as biomarkers for predicting the response of treatment with EGFR tyrosine kinase inhibitors (EGFR TKIs). Non-small cell lung cancer patients usually have activating mutations that leads to a very good response when they are treated with EGFR TKIs. Our tumor samples were examined for the presence of sensitive mutations in the gene, resistant mutations or the absence of mutations. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231315PMC
June 2018
14 Reads

Family History as an Important Factor for Stratifying Participants in Genetic Studies of Major Depression.

Balkan J Med Genet 2018 Jun 29;21(1):5-12. Epub 2018 Oct 29.

Department of Family Medicine, Maribor Medical School, Maribor, Slovenia.

Depression is estimated to affect 350 million people worldwide. The World Mental Health Survey conducted in 17 countries found that, on average, about one in 20 people reported having an episode of depression in the previous year. Although depression has been shown to be moderately heritable by studies conducted in the past, the search for its so-called missing heritability has so far been unsuccessful. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231308PMC

Galactosialidosis in a Newborn with a Novel Mutation in the Gene Presenting with Transient Hyperparathyroidism.

Balkan J Med Genet 2017 Dec 29;20(2):95-98. Epub 2017 Dec 29.

Department of Pediatrics, Division of Neonatology, Ankara University School of Medicine, Ankara, Turkey.

Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A () gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972510PMC
December 2017
2 Reads
0.170 Impact Factor

Mutation Status: Does Younger Mean More Frequently Mutated?

Balkan J Med Genet 2017 Dec 29;20(2):89-90. Epub 2017 Dec 29.

Department of Pneumonology, Oncology and Allergology, Medical University of Lublin, 20-950 Lublin, Poland.

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http://dx.doi.org/10.1515/bjmg-2017-0029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972508PMC
December 2017
16 Reads

Detection of Allelic Variants of the and Genes in Colorectal Cancer Patients.

Balkan J Med Genet 2017 Dec 29;20(2):83-88. Epub 2017 Dec 29.

Institute of Oncology, Riga Stradiņš University, Riga, Latvia.

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 and genes. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972507PMC
December 2017

Differential Expression of FGFRs Signaling Pathway Components in Bladder Cancer: A Step Toward Personalized Medicine.

Balkan J Med Genet 2017 Dec 29;20(2):75-82. Epub 2017 Dec 29.

Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Variations Improper activation and inappropriate expression of fibroblast growth factor receptors () 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 and expression levels and their correlation with the clinicopathological features in Iranian patients with bladder cancer (BC). Read More

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http://dx.doi.org/10.1515/bjmg-2017-0026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972506PMC
December 2017
3 Reads

and Gene Polymorphism in Turkish Vitiligo Patients.

Balkan J Med Genet 2017 Dec 29;20(2):67-74. Epub 2017 Dec 29.

Department of Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972505PMC
December 2017
27 Reads

Association of the MMP7 -181A>G Promoter Polymorphism with Early Onset of Chronic Obstructive Pulmonary Disease.

Balkan J Med Genet 2017 Dec 29;20(2):59-66. Epub 2017 Dec 29.

Department of Chemistry and Biochemistry, Medical Faculty, Trakia University, Stara Zagora, Bulgaria.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972504PMC
December 2017
10 Reads

Increased Frequency of Genes in Patients with Epigastric Pain Syndrome.

Balkan J Med Genet 2017 Dec 29;20(2):51-58. Epub 2017 Dec 29.

Department of Gastroenterology, Cumhuriyet University, Faculty of Medicine, Sivas, Turkey.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972503PMC
December 2017
8 Reads

The Mitochondrial COI/tRNA G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.

Balkan J Med Genet 2017 Dec 29;20(2):43-50. Epub 2017 Dec 29.

Central Laboratory, Hangzhou First People's Hospital, Hangzhou, People's Republic of China.

Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNA 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). Read More

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http://dx.doi.org/10.1515/bjmg-2017-0025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972502PMC
December 2017
26 Reads

Polymorphism of the Rs1042713 Gene is not Associated with Spontaneous Preterm Birth: Analyses in a Slovenian Sample and Meta Analysis.

Balkan J Med Genet 2017 Dec 29;20(2):35-42. Epub 2017 Dec 29.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

The β-2-adrenergic receptor () 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 rs1042713 polymorphism and spontaneous preterm birth (SPTB) were inconsistent. We evaluated the association between and SPTB in a case-control association study in a Slovenian sample population and performed a meta analysis of previously published studies. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972501PMC
December 2017
2 Reads

Association Between Osteoprotegerin Gene Polymorphisms and Risk of Coronary Artery Disease: A Systematic Review and Meta-analysis.

Authors:
P Jia N Wu D Jia Y Sun

Balkan J Med Genet 2017 Dec 29;20(2):27-34. Epub 2017 Dec 29.

Department of Cardiology, the First Affiliated Hospital of China, Medical University, Liaoning Province, Shenyang, People's Republic of China.

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 gene polymorphisms are associated with a susceptibility to CAD. However, published studies showed inconsistent results. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972500PMC
December 2017

Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.

Balkan J Med Genet 2017 Dec 29;20(2):19-26. Epub 2017 Dec 29.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University Tehran, Tehran, Iran.

Coagulation factor VII (FVII) is a key enzyme of the extrinsic coagulation cascade that is predominantly produced by hepatocytes. The gene mutations cause FVII deficiency with considerable molecular and phenotypic heterogeneity. We characterized the molecular alterations of the gene and their corresponding mRNA transcripts in Iranian patients from eight unrelated families. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972499PMC
December 2017
2 Reads
0.170 Impact Factor

Association Between Inherited Thrombophilia in Pregnancy and Micronucleus Frequency in Peripheral Blood Lymphocytes.

Balkan J Med Genet 2017 Dec 29;20(2):11-18. Epub 2017 Dec 29.

Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972498PMC
December 2017
2 Reads

Association of Placenta Previa with a History of Previous Cesarian Deliveries and Indications for a Possible Role of a Genetic Component.

Balkan J Med Genet 2017 Dec 29;20(2):5-10. Epub 2017 Dec 29.

Department of Obstetrics and Gynecology, Venizeleio General Hospital, Heraklion, Greece.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972497PMC
December 2017
10 Reads

Sirenomelia associated with Hypoplastic Left Heart in a Newborn.

Balkan J Med Genet 2017 Jun 30;20(1):91-94. Epub 2017 Jun 30.

Division of Neonatology, Department of Pediatrics, Inonu University School of Medicine, Malatya, Turkey.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596827PMC
June 2017
5 Reads

X-autosome and X-Y Translocations in Female Carriers: X-chromosome Inactivation Easily Detectable by 5-ethynyl-2-deoxyuridine (EdU).

Balkan J Med Genet 2017 Jun 30;20(1):87-90. Epub 2017 Jun 30.

Universtätsklinikum Jena, Institut für Humangenetik, Jena, Germany.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596826PMC

Analysis of the Mitochondrial 4977 Bp Deletion in Patients with Hepatocellular Carcinoma.

Balkan J Med Genet 2017 Jun 30;20(1):81-86. Epub 2017 Jun 30.

Department of Cardiothoracic Surgery, Zhuji People's Hospital, Shaoxing, People's Republic of China.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596825PMC
June 2017
1 Read

Effect of the Pro12Ala Polymorphism of the Peroxisome Proliferator-activated Receptor γ2 Gene on Lipid Profile and Adipokines Levels in Obese Subjects.

Balkan J Med Genet 2017 Jun 30;20(1):71-80. Epub 2017 Jun 30.

Department of Medical Biology, Cerrahpasa Faculty of Medicine,Istanbul University, Istanbul, Turkey.

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 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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596824PMC
June 2017
2 Reads

Association of the Gene Polymorphisms with Cardiovascular Disease Risk Factors and Atherogenic Indices in Patients from Assam, Northeast India.

Balkan J Med Genet 2017 Jun 30;20(1):59-70. Epub 2017 Jun 30.

Regional Nursing College, Guwahati-781032, Assam, India.

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 - () gene polymorphisms (G-75A and C+83T) were associated with ) the risk for decreased HDL-C, and ) other CVD risk factors, . serum lipids, atherogenic indices, obesity, and blood pressure (BP). Read More

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http://dx.doi.org/10.1515/bjmg-2017-0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596823PMC
June 2017
3 Reads

The Gene Polymorphism is associated with Increased Risk of Metabolic Syndrome Prevalence in the Serbian Population.

Balkan J Med Genet 2017 Jun 30;20(1):51-58. Epub 2017 Jun 30.

University of Novi Sad, Faculty of Sciences, Department of Biolgy and Ecology, Novi Sad, Serbia.

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 gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related () 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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596822PMC

Analysis of Meiotic Segregation Patterns and Interchromosomal Effects in Sperm from 13 Robertsonian Translocations.

Balkan J Med Genet 2017 Jun 30;20(1):43-50. Epub 2017 Jun 30.

Department of Clinical Laboratory, Hubei Maternal and Child Health Hospital, Wuhan, Hubei, People's Republic of China.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596821PMC
June 2017
2 Reads

Genetic Polymorphisms of Hemostatic Factors and Thrombotic Risk in Non - Myeloproliferative Neoplasms: A Pilot Study.

Balkan J Med Genet 2017 Jun 30;20(1):35-42. Epub 2017 Jun 30.

Department of Oncology and Hematology, Institute of Oncology, Lithuanian University of Health Sciences, Kaunas, Lithuania.

The most important complications of Philadelphianegagive (non -) 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 - MPNs at the Lithuanian University of Health Sciences. Kaunas, Lithuania. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596820PMC

Molecular and Immunohistochemical Characteristics of Complete Hydatidiform Moles.

Balkan J Med Genet 2017 Jun 30;20(1):27-34. Epub 2017 Jun 30.

Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Skopje, Republic of Macedonia.

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. Read More

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http://dx.doi.org/10.1515/bjmg-2017-0009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596819PMC
June 2017
6 Reads