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Balkan Journal of Medical Genetics: BJMG

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https://read.qxmd.com/read/30425917/acute-pre-b-lymphoblastic-leukemia-and-congenital-anomalies-in-a-child-with-a-de-novo-22q11-1q11-22-duplication
#1
M Vaisvilas, V Dirse, B Aleksiuniene, I Tamuliene, L Cimbalistiene, A Utkus, J Rascon
Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425916/floating-harbor-syndrome-presentation-of-the-first-romanian-patient-with-a-srcap-mutation-and-review-of-the-literature
#2
M Budisteanu, N Bögershausen, S M Papuc, S Moosa, M Thoenes, D Riga, A Arghir, B Wollnik
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 ( SRCAP ) 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...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425915/hyperinsulinism-hyperammonemia-syndrome-in-an-infant-with-seizures
#3
A Strajnar, M Z Tansek, K T Podkrajsek, T Battelino, U Groselj
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. An 8-month-old boy was admitted to a hospital due to hypoglycemia seizures. He also had asymptomatic hyperammonemia with no signs of lethargy or headaches...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425914/problems-of-unknown-significance-counseling-in-the-era-of-next-generation-sequencing
#4
U Fahrioğlu
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. However, the clinical, and especially, genetic counseling profession will need to rise to the challenge to face some of the new issues, dilemmas and problems this new technology is bringing to the table...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425913/mutation-in-phospholipase-c-%C3%AE-1-plcd1-gene-underlies-hereditary-leukonychia-in-a-pashtun-family-and-review-of-the-literature
#5
A K Khan, S A Khan, Na Muhammad, No Muhammad, J Ahmad, H Nawaz, A Nasir, S Farman, S Khan
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 ( PLCD1 ), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425912/-ugt1a1-ta-n-promoter-genotype-diagnostic-and-population-pharmacogenetic-marker-in-serbia
#6
M Vukovic, N Radlovic, Z Lekovic, K Vucicevic, N Maric, N Kotur, V Gasic, M Ugrin, M Stojiljkovic, L Dokmanovic, B Zukic, S Pavlovic
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 UGT1A1 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. Also, the UGT1A1 (TA)n promoter genotype is recognized as a clinically relevant pharmacogenetic marker...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425911/the-mitochondrial-trna-gly-t10003c-mutation-may-not-be-associated-with-diabetes-mellitus
#7
Q Yuan, Z G Zhao, H J Yuan
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 mt-tRNA 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. In this study, we reassessed a recent reported "pathogenic" mutation, tRNAGly T10003C, in a clinical manifestation of DM...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425910/clinical-variability-in-two-macedonian-families-with-arterial-tortuosity-syndrome
#8
M Kocova, R Kacarska, K Kuzevska-Maneva, S Prijic, M Lazareska, C Dordoni, M Ritelli, M Colombi
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 ( SLC2A10 ) 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. Here we present two new patients with ATS from two unrelated families...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425909/ppar
#9
E Grbić, A Peterlin, T Kunej, D Petrovič
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. Due to an increase in the prevalence of diabetes in the world, the incidence of diabetic complications (microvascular and macrovascular) is increasing. Peroxisome proliferator-activated receptor γ (PPARγ) plays a important role in atherosclerotic processes...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425908/-adrb2-gene-polymorphisms-and-salbutamol-responsiveness-in-serbian-children-with-asthma
#10
N Jovicic, T Babic, S Dragicevic, B Nestorovic, A Nikolic
Inhaled β2 adrenergic receptor (β2-AR) agonists are the mainstay of asthma therapy. The β2-AR protein is encoded by the ADRB2 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. The subjects were genotyped for ADRB2 +46A>G (Arg16Gly, rs1042713) and +79C>G (Gln27Glu, rs 1042714) polymorphisms and the association with asthma severity and response to inhaled salbutamol was examined...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425907/association-of-e-selectin-s128r-polymorphism-with-hereditary-breast-carcinoma-susceptibility-in-turkish-patients-without-brca1-2-germline-mutations
#11
K Yararbas, P B Atalay
Inherited genetic factors play an important role in breast cancer susceptibility. The BRCA1 and BRCA2 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. The present retrospective study aimed to evaluate whether E-selectin S128R polymorphism (NG_012124.1: g.7161A>C, NM_000450.2: c.445A>C, NP_000441.2: p.Ser149Arg), which is known to have a role in cancer risk, is associated with breast cancer susceptibility in BRCA 1/2 mutation non carriers with breast cancer...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425906/analysis-of-the-ppard-gene-expression-level-changes-in-football-players-in-response-to-the-training-cycle
#12
D Domańska-Senderowska, A Snochowska, P Szmigielska, Z Jastrzębski, A Jegier, J Kiszałkiewicz, K Dróbka, J Jastrzębska, D Pastuszak-Lewandoska, P Cięszczyk, A Maciejewska-Skrendo, P Zmijewski, E Brzeziańska-Lasota
The PPARD 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 PPARD gene expression lipid metabolism parameters and the variation of the PPARD gene expression before (T1 ) and after 12 hours of training (T2 ) sessions in a group of football players. Peripheral blood lymphocytes were obtained from 22 football players (17.5±0.7 years, 178±0...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425905/detecting-egfr-mutations-in-patients-with-non-small-cell-lung-cancer
#13
Z A Hammoudeh, O Antonova, R Staneva, D Nikolova, Y Kyuchukov, A Penev, T Mintchev, V Koleva, S Hadjidekova, D Toncheva
Mutations in the receptor of the epidermal growth factor receptor ( EGFR ) 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 EGFR 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 EGFR gene, resistant mutations or the absence of mutations...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/30425904/family-history-as-an-important-factor-for-stratifying-participants-in-genetic-studies-of-major-depression
#14
B Zalar, A Blatnik, A Maver, Z Klemenc-Ketiš, B Peterlin
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. The difficulty in identifying common genetic variants predisposing to depression could be due to large sample sizes needed to detect small effects on genetic risk and the heterogeneous nature of major depressive disorder (MDD)...
June 2018: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/29876240/galactosialidosis-in-a-newborn-with-a-novel-mutation-in-the-ctsa-gene-presenting-with-transient-hyperparathyroidism
#15
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://read.qxmd.com/read/29876239/female-and-male-carriers-of-taz-mutations-need-to-be-thoroughly-investigated
#16
Finsterer J, Stollberger C
No abstract text is available yet for this article.
December 2017: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/29876238/-epidermal-growth-factor-receptor-mutation-status-does-younger-mean-more-frequently-mutated
#17
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://read.qxmd.com/read/29876237/detection-of-allelic-variants-of-the-pole-and-pold1-genes-in-colorectal-cancer-patients
#18
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://read.qxmd.com/read/29876236/differential-expression-of-fgfrs-signaling-pathway-components-in-bladder-cancer-a-step-toward-personalized-medicine
#19
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://read.qxmd.com/read/29876235/-superoxide-dismutase-1-and-2-gene-polymorphism-in-turkish-vitiligo-patients
#20
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
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