Screening of polymorphisms in the folate pathway in Turkish pediatric Acute Lymphoblastic Leukemia patients

Background and aim: Folate metabolic pathway plays a significant role in leukemogenesis because of its necessity for nucleotide synthesis and DNA methylation. Folate deficiency causes DNA damage. Thus polymorphisms of folate-related genes may affect the susceptibility to childhood Acute Lymphoblastic Leukemia (ALL). MTHFR (Methylenetetrahydrofolate Reductase), DHFR (Dihydrofolate reductase), CBS (Cystathionine b-synthase) and TYMS (Thymidylate Synthase) have an important role in folate pathway because their activated variants modulate synthesis of DNA and levels of folate. In this study, we aimed to investigate whether polymorphisms in genes related to folate metabolic pathway influence the risk to childhood ALL.Subject and methods: The patient groups who were diagnosed with childhood ALL at Losante Pediatric Hematology-Oncology Hospital and healthy control groups were included in the study. MTHFR 677 CT, MTHFR 1298 A-C, CBS 844ins68, DHFR 19-bp and TYMS 1494del6 polymorphisms were screened. Genotyping of these polymorphisms was performed by Restriction Fragment Length Polymorphism (RFLP) analysis and Real Time Polymerase chain Reaction (Real Time-PCR).Results: In total, we have screened 5 polymorphisms in the studied genes. The results were compared between childhood ALL patients and healthy groups. Genotype frequencies of MTHFR 677 C-T, MTHFR 1298 A-C, CBS 844ins68 and DHFR 19-bp del were similar for childhood ALL patients and healthy groups. However, statistical results showed that TYMS 1494del6 may be associated with ALL pathogenesis (p < 0.001).Conclusion: We showed that TYMS polymorphism (rs2853542) may be associated with ALL pathogenesis. In addition, our results demonstrated that MTHFR, DHFR and CBS do not affect development of leukemia. Our study displays also importance as it is the first screening results to identify association with the studied polymorphisms in Turkish patients with childhood ALL and determination of the frequency in Turkish population

Olay inşaat durduruldu

Büyükşehir Belediye Başkanı Aziz Kocaoğlu, Koruma Kurulu'nun istediği bilimsel görüş alınmadan, teknik bir hata sonucu Kültürpark'ta hafriyata başlandığını belirtti. Çalışmaların askıya alındığını açıkladı

Opisthotonos: a newly recognized side effect of midazolam

A 13-month-old boy was admitted to our hospital for investigation of recurrent respiratory symptoms. He had no history of seizure disorder. His laboratory tests were normal. He was taking ampicillin-sulbactam. In order to explain his symptoms, computed tomography (CT) of the chest was planned and midazolam 0.1 mg/kg was administered intranasally to sedate the patient before obtaining CT. However, the patient developed an opisthotonic posture soon after midazolam administration. It lasted 10 minutes and subsided spontaneously

Coronary artery bypass graft surgery in a patient with ureterosigmoidostomy

A 75-year-old male patient had stable angina pectoris. After coronary angiography we decided to perform a coronary artery bypass graft surgery. Twenty years ago the patient underwent radical cystectomy and bilateral ureterosigmoidostomy because of bladder cancer. After that, his micturition was via the rectum. We did not experience that before. As is known, monitoring of urine output is very important after cardiac surgery. The patient was consulted with an urologist for how to monitor urine output in him. Transrectal catheterization was recommended for our follow-up, but before the catheterization bowel cleansing is necessary. Four-vessel on-pump coronary artery bypass graft surgery was performed without any problem. Peroperative urine volume and arterial blood gas results were normal. Urine output is a sensitive variable reflecting the patient's effective blood volume and tissue perfusion. Urinary catheterization is a standard for all cardiac surgeries, and it allows the patients' urine to drain freely from the bladder for collection. Monitoring of urine output in patients with ureterosigmoidostomy is impossible by standard urinary catheterization method. In this case we performed transrectal catheterization for Urine flow follow-up. Urine flow follow-up is essential after the open-heart surgery and it can be measured in different ways, as in our case. (c) 2014 Baishideng Publishing Group Inc. All rights reserved