journal
Journals Balkan Journal of Medical Gene...

Balkan Journal of Medical Genetics : BJMG

https://read.qxmd.com/read/38482266/experience-with-the-ketogenic-diet-in-a-boy-with-clcn4-related-neurodevelopmental-disorder
#1
G Sager, U Yukselmis, O Güzel, A Turkyilmaz, M Akcay
Raynaud-Claes syndrome is rare condition characterized with intellectual disability and is caused by X-linked pathogenic variants in CLCN4 gene. Hemizygous missense variant NM_001830.4: c.1597G>A (p.V533M) was detected in a 6-year-old male followed up with intellectual disability, dysmorphism, and epileptic encephalopathy. The mother and one sister of the patient were also carrying the same variant. The clinical picture of the patient was significantly more severe, and the patient exhibited nonconvulsive status...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482265/determination-of-the-relationship-between-dna-methylation-status-of-klotho-and-arntl-genes-with-hypertension
#2
JOURNAL ARTICLE
M Osum, O Tosun, H Birtan, R Kalkan
Hypertension is a multifactorial chronic disease due to the interaction of environmental factors with genetic alteration. KLOTHO and ARNTL genes play an important role in the development of hypertension. Therefore, we analyzed the methylation status of KLOTHO and ARNTL genes by using methylation-sensitive high-resolution melting (MSHRM) in a total of 78 hypertensive and 49 control subjects. In this study, we could not identify a significant association between KLOTHO and ARNTL methylation and the hypertensive phenotype...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482264/expanding-the-phenotypic-spectrum-chronic-kidney-disease-in-a-patient-with-combined-oxidative-phosphorylation-defect-21
#3
A Paripović, A Maver, N Stajić, J Putnik, S Ostojić, B Alimpić, N Ilić, A Sarajlija
INTRODUCTION: Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of COXPD21 patients, mostly with distal renal tubular acidosis. CASE REPORT: We report on the first COXPD21 patient with generalized tubular dysfunction and early childhood progression to chronic kidney disease (CKD)...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482263/co-existence-of-cyp2c19-1-2-and-abcb1c-3435-ct-genotype-has-a-potential-impact-on-clinical-outcome-in-cad-patients-treated-with-clopidogrel
#4
JOURNAL ARTICLE
K A Nestorovska, Z Naumovska, M Staninova Stojovska, Z Sterjev, A Dimovski, Lj Suturkova
Clopidogrel, is a standard treatment in the prevention of major adverse cardiovascular events (MACE) in patients with coronary artery disease (CAD). Clopidogrel response is highly variable, mainly due to the presence of polymorphisms in the genes involved in drug metabolism. The aim of this study was to evaluate the association between the presence of the ABCB1 C3435T and CYP2C19* 2 polymorphism and the clinical outcome in patients with CAD treated with clopidogrel. A total of 96 patients with CAD were included in the study...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482262/preimplantation-genetic-testing-within-the-public-healthcare-system-in-slovenia
#5
JOURNAL ARTICLE
M Volk, K Writzl, A Veble, H Jaklič, N Teran, B Prosenc, M Štimpfel, I Virant Klun, E Vrtačnik Bokal, H Ban Frangež, B Peterlin
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482261/association-between-the-polymorphism-of-angiotensin-converting-enzyme-gene-and-interleukin-1-beta-gene-and-the-response-to-erythropoietin-therapy-in-dialysis-patients-with-anemia
#6
JOURNAL ARTICLE
P Dzekova-Vidimliski, N Eftimovska-Otovikj, I G Nikolov, Gj Selim, I Rambabova-Bushljetik, V Pushevski, V Karanfilovski, N Matevska-Geshovska, A Dimovski
INTRODUCTION: The polymorphism of the angiotensin-converting enzyme (ACE) gene and interleukin-1 beta (IL-1b) gene could be associated with resistance in the treatment of anemia in dialysis patients with recombinant human erythropoietin (rHuEPO). The aim of the study was to evaluate the association between the polymorphism of the ACE and IL-1b genes and the response to rHuEPO therapy in dialysis patients with anemia. MATERIAL AND METHODS: The study investigated 69 patients on dialysis with anemia treated with recombinant human erythropoietin for 12 months...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482260/do-gene-polymorphisms-play-a-role-in-newborn-hyperbilirubinemia
#7
JOURNAL ARTICLE
N Hakan, M Aydin, S Ceylaner, D Dilli, A Zenciroğlu, N Okumuş
OBJECTIVES: Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 ( UGT1A1 ) gene, hepatic solute carrier organic anion transporter 1B1/B3 ( SLCO1B1/3 ) gene, and glutathione S-transferase ( GST ) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of UGT1A1 , SLCO1B1/3 and GST genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants. METHODS: The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482259/severe-form-of-salih-myopathy-caused-by-combination-of-two-heterozygous-ttn-mutations
#8
M Milojković, M Jarić, V Stojanović, N Barišić, I Kavečan
Salih myopathy is autosomal recessive hereditary early-onset myopathy with fatal cardiomyopathy. It is a rare and heterogeneous form of congenital titinopathies (TTN). Affected children have delayed motor development, normal mental development, and in further course dilated cardiomyopathy. Motor functions have a tendency to improve, but death occurs most often before 20 years of age due to arrhythmias. Our patient is a 2-year-old girl, born in severe perinatal asphyxia, with global hypotonia and poor spontaneous movements...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482258/-epha4-genetic-variant-in-a-patient-with-epilepsy-ophthalmological-anomalies-and-neurodevelopmental-delay
#9
M Sleptsova, C Georgiev, S Atemin, P Dimova, D Avdjieva-Tzavella, G Tacheva, I Litvinenko, L Grozdanova, T Todorov, V Mitev, A Todorova
We present the findings of a Whole Exome Sequencing in a 2-year-old boy, conceived via In Vitro Fertilization with donor sperm, who suffers from an undiagnosed neurological syndrome. The following heterozygous variant in the EPHA4 gene was identified and classified as likely pathogenic: c.1655_1656, p.(Ser552CysfsTer23). Subsequent segregation analysis showed that the variant was not inherited from the mother and the sperm donor is not accessible for genetic testing. The presented results can further expand upon the genetic variants considered when diagnosing complex neurological syndromes and shows the importance of access to biological samples from donor banks in genetically ambiguous cases...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482257/chromosomal-abnormalities-in-early-pregnancy-losses-a-study-of-900-samples
#10
JOURNAL ARTICLE
Gj Bozhinovski, M Terzikj, K Kubelka-Sabit, Dz Jasar, S Lazarevski, V Livrinova, D Plaseska-Karanfilska
Chromosomal abnormalities are the most common causes of early pregnancy losses (EPLs). In this study, we aimed to evaluate the incidence and spectrum of chromosomal abnormalities in EPLs and correlate them with different clinical characteristics. We performed Quantitative Fluorescent PCR (QF-PCR), followed by subtelomeric Multiplex Ligation Probe Amplification (MLPA) analysis to detect chromosomal abnormalities in 900 products of conceptions (POCs) from EPLs collected over a period of 10 years. Chromosomal abnormalities were present in 56...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482256/misdiagnosis-of-tracher-collins-syndrome-initially-attributed-to-drug-teratogenicity-a-moroccan-case-report
#11
A Lamzouri, A El Rherbi, I Ratbi, F Z Laarabi, R Chahboune, S C Elalaoui, H Hamdaoui, R S Bencheikh, A Sefiani
BACKGROUND: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are TCOF1 , POLR1D, POLR1C, and POLR1B . CASE PRESENTATION: In this report, we present the case of a 7-year-old Moroccan boy who exhibited distinctive dysmorphic features, including coloboma and zygomatic bone hypoplasia...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/38482255/droplet-digital-pcr-as-a-molecular-tool-for-the-detection-of-the-egfr-t790m-mutation-in-nsclc-patients-with-the-egfr-activating-mutations
#12
JOURNAL ARTICLE
S Durgut, L Salihefendić, D Pećar, I Čeko, N Mulahuseinović, M Izmirlija, R Konjhodžić
BACKGROUND: Almost 50% of NSCLC patients who initially show a successful response to tyrosine kinase inhibitors targeted therapy (TKI therapy) eventually develop acquired EGFR T790M mutation. The T790M secondary mutation can cause resistance to the targeted therapy and disease relapse. Since this mutation can be present at very low frequencies in liquid biopsy samples, droplet digital PCR (ddPCR), due to its high sensitivity, has opened the possibility for minimally invasive monitoring of the disease during TKI targeted therapy...
December 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576796/two-brothers-from-macedonia-with-gitelman-syndrome
#13
A Janchevska, V Tasic, O Jordanova, Z Gucev, L Jenkins, N Jovanovska, D Plaseska-Karanfilska, E Ashton, D Bockenhauer
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis. Here we report on two preschool brothers, who presented with a several months' history of episodes of carpopedal spasms and muscle aches. The biochemical analyses revealed hypokalemia and hypomagnesemia without metabolic alkalosis...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576795/differentially-expressed-circulating-long-noncoding-rnas-in-premature-infants-with-respiratory-distress-syndrome
#14
JOURNAL ARTICLE
Z D Bao, J Wan, W Zhu, J X Shen, Y Yang, X Y Zhou
PURPOSE: Recent studies have addressed the association between lung development and long-noncoding RNAs (lncRNAs). But few studies have investigated the role of lncRNAs in neonatal respiratory distress syndrome (RDS). Thus, this study aimed to compare the expression profile of circulating lncRNAs between RDS infants and controls. METHODS: 10 RDS infants and 5 controls were enrolled. RDS patients were further divided into mild and severe RDS subgroups. Blood samples were collected for the lncRNA expression profile...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576794/difficulties-in-diagnosing-fabry-disease-in-patients-with-unexplained-left-ventricular-hypertrophy-lvh-is-the-novel-gla-gene-mutation-a-pathogenic-mutation-or-polymorphism
#15
JOURNAL ARTICLE
N Aladağ, H Ali Barman, A Şipal, T Akbulut, M Özdemir, S Ceylaner
Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene analysis for FD in patients suffering from unexplained LVH. 120 patients over the age of 30 who were diagnosed by echocardiography with idiopathic LVH were included in the study. Patients with severe hypertension, intermediate valve disease such as moderate aortic stenosis, known FD, and a family history of autosomal dominant hypertrophic cardiomyopathy were excluded from the study...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576793/features-of-the-wolf-hirschhorn-syndrome-whs-from-infant-to-young-teenager
#16
D E Popescu, D Marian, M Zeleniuc, Ch Samoila, V Belengeanu
Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576792/the-predisposition-for-type-2-diabetes-mellitus-and-metabolic-syndrome
#17
JOURNAL ARTICLE
C Zenoaga-Barbăroșie, L Berca, T Vassu-Dimov, M Toma, M I Nica, O A Alexiu-Toma, C Ciornei, A Albu, S Nica, C Nistor, R Nica
Type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS) are diseases caused by the interaction of genetic and non-genetic factors. Therefore, the aim of our study was to investigate the association between six common genetic polymorphisms and T2DM and MetS in males. A total of 120 T2DM, 75 MetS, and 120 healthy controls (HC) were included in the study. ACE ID, eNOS 4a/b, ATR1 A1166C, OXTR (A>G), SOD1 +35A/C, CAT -21A/T gene polymorphisms were genotyped by PCR or PCR-RFLP techniques. T2DM was diagnosed at an earlier age compared to MetS (54 vs 55 years old, p=0...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576791/polyploidy-phenomenon-as-a-cause-of-early-miscarriages-in-abortion-materials
#18
JOURNAL ARTICLE
M E Yildirim, S Karakus, H K Kurtulgan, L Ozer, S B Celik
OBJECTIVES: Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials. METHODS: This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576790/androgen-insensitivity-syndrome-due-to-non-coding-variation-in-the-androgen-receptor-gene-review-of-the-literature-and-case-report-of-a-patient-with-mosaic-c-547c-t-variant
#19
P Noveski, T Plaseski, M Dimitrovska, D Plaseska-Karanfilska
Sexual development (SD) is a complex process with strict spatiotemporal regulation of gene expression. Despite advancements in molecular diagnostics, disorders of sexual development (DSD) have a diagnostic rate of ~50%. Androgen insensitivity syndrome (AIS) represents the most common form of 46,XY DSD, with a spectrum of defects in androgen action. Considering the importance of very strict regulation of the SD, it is reasonable to assume that the genetic cause for proportion of the DSD lies in the non-coding part of the genome that regulates proper gene functioning...
July 2023: Balkan Journal of Medical Genetics: BJMG
https://read.qxmd.com/read/37576789/sensorineural-hearing-loss-in-a-child-with-succinic-semialdehyde-dehydrogenase-deficiency
#20
M Parezanović, N Ilić, S Ostojić, G Stevanović, J Ječmenica, A Maver, A Sarajlija
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G>A) in ALDH5A1 presenting with an unexpected association of typical SSADH deficiency manifestations with bilateral sensorineural hearing loss (SNHL)...
July 2023: Balkan Journal of Medical Genetics: BJMG
journal
journal
47679
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.