Determination of Methyl Tetrahydrofolate Reductase, TEAD2 and PAX3 Gene Polymorphisms in Patients with Spina Bifida

2015 ◽  
Author(s):  
Mehmet Saraç ◽  
Şeyhmus Kerem Özel ◽  
Ebru Etem Önalan ◽  
Hüseyin Yüce ◽  
Ünal Bakal
Keyword(s):  
Spina Bifida ◽  
Gene Polymorphisms ◽  
Pax3 Gene ◽  
Methyl Tetrahydrofolate

scholarly journals The influence of cytochrome p-450 gene polymorphisms on the tramadol postoperative analgesia effectiveness

2016 ◽  
Vol 10 (3) ◽  
pp. 192-196
Author(s):  
D. A Sokolov ◽  
Pavel A. Lyuboshevskiy ◽  
N. Yu Levshin ◽  
A. V Zhemchugov ◽  
L. V Kuptsova
Keyword(s):  
Nervous System ◽  
Postoperative Analgesia ◽  
Gene Polymorphisms ◽  
Gynecological Surgery ◽  
Mu Opioid Receptors ◽  
Genetic Characteristics ◽  
Mu Opioid ◽  
Sympathetic Nervous ◽  
Cytochrome P 450

The effectiveness of postoperative analgesia may be determined by genetic characteristics of patients that affect the pharmacodynamics and pharmacokinetics of drugs. In particular, as a result of the metabolism of tramadol by isoenzyme of cytochrome P-450 is formed O-desmethyltramadol having higher affinity to mu-opioid receptors. The paper explored the effectiveness of analgesia based on tramadol in 48 patients after endoscopic gynecological surgery depending on the presence/absence of polymorphisms of CYP2D6 gene.It was found that 15 patients with polymorphisms С100Т and G1846A had more intensive postoperative pain, which was accompanied by activation of the sympathetic nervous system. Determination of these polymorphisms may be useful to select the optimal postoperative analgesia.

scholarly journals NicotinamideN-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida

2008 ◽  
Vol 82 (10) ◽  
pp. 670-675 ◽  
Author(s):  
Wei Lu ◽  
Huiping Zhu ◽  
Shu Wen ◽  
Wei Yang ◽  
Gary M. Shaw ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Gene Polymorphisms ◽  
Methyl Transferase

scholarly journals Determination of Sheep Prion Gene Polymorphisms from Paraffin-Embedded Tissue

2006 ◽  
Vol 18 (5) ◽  
pp. 443-447 ◽  
Author(s):  
Robert A. Kunkle ◽  
Janice M. Miller ◽  
David P. Alt ◽  
Randall C. Cutlip ◽  
Noelle E. Cockett ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Prion Gene

scholarly journals Statistical analysis of associated vertebra and costal anomalies in spina bifida patients

2016 ◽  
Vol 30 (2) ◽  
pp. 258-266
Author(s):  
Ibrahim Alatas ◽  
Huseyin Canaz ◽  
Ayten Saracoglu ◽  
Haluk Kafali ◽  
Gokhan Canaz ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Spina Bifida ◽  
Ethnic Groups ◽  
Birth Defects ◽  
Congenital Anomalies ◽  
Associated Anomalies ◽  
Gender Distribution ◽  
Treatment Principles

AbstractObjective: Spina bifida is one of the most severe birth defects and can happen as a result of disrupted primary neurulation. Congenital vertebra and costa anomalies are more frequently seen with spina bifida, and associated anomalies significantly affect the prognosis of affected children. In this study, we aimed to determine the incidence of scoliosis, costal anomalies, and vertebral deformations seen at the time of diagnosis and to statistically evaluate their concomitancies.Methods: Gender and mean ages of the patients were determined. The spina bifida patients were examined for deformation anomalies, butterfly vertebra, hemivertebra, wedge vertebra, costal anomalies and scoliosis. The relationships between these anomalies were evaluated.Results: 94 patients with a mean age of 11,5 months examined. The incidence of scoliosis was 21.8% among female infants and 17.9% among males. Rates of scoliosis with vertebra anomalies (hemivertebra, wedge vertebra) and costal anomalies did not differ significantly (P > 0.05). Wedge vertebra were the most frequent vertebra anomaly type with 38.2% ratio. Costal anomalies were detected in 25.5% of females and 20.5% of male infants. Hemivertebra and wedge vertebra were seen significantly more frequently in this group. Gender distribution did not differ between with and without any vertebra types.Conclusion: Congenital vertebra and costa anomalies are more frequently seen with spina bifida. We believe that these anomalies and relationship with spina bifida may demonstrate differences among different ethnic groups or locations. More detailed multi-centered studies performed on this issue will aid in the determination of etiologies, genetics, and treatment principles of these congenital anomalies.

scholarly journals Association of angiotensin converting enzyme, endothelial nitric oxide synthase and peroxisome proliferator-activated receptor-γ gene polymorphisms with indices of cardiorespiratory systems reactions to exercise

2014 ◽  
Vol 68 (3) ◽  
pp. 71-75
Author(s):  
S. Drozdovska
Keyword(s):  
Gene Polymorphisms ◽  
Molecular Genetic ◽  
Gas Analysis ◽  
Peroxisome Proliferator ◽  
Cardiorespiratory System ◽  
Peroxisome Proliferator Activated Receptor ◽  
High Level ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

The feature of cardiorespiratory system responses to physical load has been investigated in athletes with different genotypes. The influence of АСЕ, eNOS, PPARA, PPARG, HIF-1α, PPARGC1B gene polymorphisms on gas analysis indices have been analyzed. The association of I/D АСЕ, Т/С eNOS G/C PPARA gene polymorphisms with various characteristics of aerobic capacities of the qualified athletes has been established. The possibilities of determination of predisposition to high level aerobic ability due to assessment of the molecular- genetic markers are discussed in the paper.

scholarly journals Determination of Prothrombotic Gene Polymorphisms and Stroke Risk Factors in Young Ischemic Stroke Patients

2014 ◽  
Vol 4 (3) ◽  
pp. 119-124
Author(s):  
Recep Demir ◽  
Omer Atis ◽  
Lutfi Ozel ◽  
Hasan Dogan ◽  
Gokhan Ozdemir ◽  
...  
Keyword(s):  
Risk Factors ◽  
Ischemic Stroke ◽  
Gene Polymorphisms ◽  
Stroke Risk ◽  
Stroke Patients ◽  
Stroke Risk Factors ◽  
Young Ischemic Stroke

scholarly journals Genotype Variability and Haplotype Profile of Abcb1 (Mdr1) Gene Polymorphisms in Macedonian Population

PRILOZI ◽  
2014 ◽  
Vol 35 (3) ◽  
pp. 121-133 ◽  
Author(s):  
Zorica Naumovska ◽  
Aleksandra K. Nestorovska ◽  
Zoran Sterjev ◽  
Ana Filipce ◽  
Aleksandar Dimovski ◽  
...  
Keyword(s):  
General Population ◽  
Gene Polymorphisms ◽  
Individualized Medicine ◽  
Predictive Marker ◽  
Ethnic Populations ◽  
P Glycoprotein ◽  
Genotype Frequencies ◽  
Haplotype Frequencies ◽  
Different Response

AbstractThe aim of this study was to evaluate the most common ABCB1 (MDR1, P-glycoprotein) polymorphisms in the population of R. Macedonia and compare the allele and haplotype frequencies with the global geographic data reported from different ethnic populations. The total of 107 healthy Macedonian individuals from the general population was included.Genotypes for the ABCB1 for three polymorphisms C1236T [rs1128503], G2677A/T [rs2032582] and C3435T [rs1045642] were analyzed by Real-Time PCR. Obtained allele frequencies for these three SNPs were similar to those observed in other European Caucasians. The detected genotype frequencies were 33.6% for 1236CC, 44.9% for 1236CT and 21.5% for 1236TT in exon 12; 32.7%, 44.9% and 22.4% for 2677GG, 2677GT and 2677GT consecutively in exon 21; and 25.2% for 3435CC, 52.3% for 3435CT and 22.5% for 3435TT in exon 26. Strong LD was observed in our study among all three SNPs with the highest association confirmed for C1236T and G2677T ((D' = 0.859, r2 = 0.711). Eight different haplotypes were identified and the most prominent was the CGC haplotype (45.3%). Our study was the first to have documented the distribution of ABCB1 alleles, genotypes and haplotypes in the population of R. Macedonia. The obtained results can help in the prediction of different response to the drugs that are P-glycoprotein substrates. Additionally, in the era of individualized medicine the determination of the P-glycoprotein genotype might be a good predictive marker for determination of the subpopulations with higher risk to certain diseases.

Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients

2017 ◽  
Vol 105 ◽  
pp. 1324-1327 ◽  
Author(s):  
Atheer Awad Mehde ◽  
Wesen Adel Mehdi ◽  
Faridah Yusof ◽  
Raha Ahmed Raus ◽  
Zaima Azira Zainal Abidin ◽  
...  
Keyword(s):  
Gene Polymorphisms

scholarly journals Clinical implications of the neurosegmental level of injury in the treatment of hip dislocation and subluxation in children with spina bifida

2016 ◽  
Vol 4 (4) ◽  
pp. 6-11 ◽  
Author(s):  
Alexei G. Baindurashvili ◽  
Stanislav V. Ivanov ◽  
Vladimir M. Kenis
Keyword(s):  
Surgical Treatment ◽  
Spina Bifida ◽  
Pediatric Patients ◽  
Hip Dislocation ◽  
Control Group ◽  
Clinical Implications ◽  
Saint Petersburg ◽  
Hip Stabilization

Background. Hip dislocation and subluxation are common in children with spina bifida.Aim. To determine the influence of the neurosegmental level on surgical treatment of hip dislocation and subluxation in children with spina bifida.Materials and methods. A total of 114 pediatric patients with spina bifida and hip dislocation and subluxation were treated at The Turner Scientific and Research Institute for Children’s Orthopedics (Saint Petersburg, Russia) from 2006 to 2015. The patients were divided into two groups according the Sharrard classification of neurosegmental lesions: a study group of 62 patients who underwent hip stabilization surgery and a control group of 52 patients who did not undergo hip stabilization procedures.Results. For patients with a high neurosegmental level (thoracic and L1-L2), surgical treatment for hip dislocation and subluxation, which included most cases (72%), led to motor deterioration (retrospective study). Of 40 patients with a neurosegmental level of L3-L4 and L5-S1, motor level improved in 13 (32.5%) but deteriorated in 10 (36%) of 28 patients in the control group.Conclusion. Determination of the neurosegmental level enables the prediction of motor level and reveals indication for surgical treatment.

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