In vitro, He-Ne laser show a modifying response of cells to ionizing radiations. So there is a need to investigate this property in vivo.To investigate the effect of He-Ne laser (632.8nm) pre and post irradiation against the UVC (253.7nm) irradiation in vivo on the sperm morphology, and DNA of testis in Mouse. In this study Twenty adult albino male mice were divided into four groups, the first group was He-Ne laser irradiated, and the second group was UVC irradiated. The third group was pre-irradiated by He-Ne laser followed by UVC irradiation, with one hour time interval between the two irradiations. The fourth group was pre-irradiated by UVC then by He-Ne laser, with one hour separating the two irradiations. The He-Ne laser per-irradiation show a protection properties, which appeared on both sperm head abnormality and DNA damage against UVC light irradiation. Four sperm head abnormality features were found after each type of irradiation. But the He-Ne laser preirradiation against UVC irradiation lower the frequencies of sperm head abnormality, farther more reduce the DNA testis damaging. Both UVC and He-Ne laser irradiations revealed a toxic effect on sperm head morphology, but the He-Ne laser was found less effective. The He-Ne laser protective properties was observed only when He-Ne laser irradiation was applied before the UVC irradiation.
Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.
Background: Thiopurines are essential medications in Acute Lymphoblastic Leukemia (ALL) treatment protocols as anti-cancer agents since long time; however, their use might result in unexpected toxicities in ALL children due to the low thiopurine S-methyltransferase (TPMT) activity, a major enzyme involved in 6-mercaptopurine metabolism, which strongly correlates to the genetic polymorphism of the TPMT gene in those patients. Objective: To identify the most common TPMT polymorphisms in children with ALL and its frequencies. Methods: A cross sectional study enrolling eighty-one ALL children receiving mercaptopurine drug during their maintenance course of treatment according to UKALL-2011 protocol, were enrolled in this study. After DNA extraction from whole blood TPMT genetic polymorphisms were detected by allele-specific multiplex-PCR analysis. Results: A total of 51 children with allele frequencies of (62.96%) were homozygous for the wildtype allele TPMT*1, 30 children with allelic frequency of (37.03%) were heterozygous for one of the two mutant alleles (TPMT*3A or TPMT*3C) with allele frequencies of 29.62% and 7.4% respectively, while no result was found homozygous for two mutant alleles or TPMT*3B allele. Conclusions: This is the first study in Iraq to identify the genetic polymorphism of TPMT in a group of ALL children being treated for ALL. The study revealed the presence of TPMT*3A and TPMT*3C genetic polymorphisms among the study sample, no TPMT*3B was identified in the study sample. Keywords Acute Lymphoblastic Leukemia, 6-Mercaptopurine, Thiopurine S-methyltransferase, genetic polymorphisms. Introduction: Extraordinary advances in the treatment outcome of childhood Acute Lymphoblastic Leukemia (ALL) rank as one of the most successful stories in the history of oncology, with the current rate of approximately 80% of children being cured [1,2]. In spite of this success, there remains place for improvement, including the development of less toxic therapy [3, 4]. Thiopurine drugs, one of the medications that plays a major role in the maintenance phase of treatment of ALL, these drugs are purine analogue drugs which are metabolized inside the human body to form thioguanine nucleotide metabolites (TGNs), which have cytotoxic and immunosuppressive properties. However, these drugs like many cytotoxic agents have a relatively narrow therapeutic index. 6-Mercaptopurine (6-MP) is taken orally daily for a
Background: Thiopurines are essential medications in Acute Lymphoblastic Leukemia (ALL) treatment protocols as anti-cancer agents since long time; however, their use might result in unexpected toxicities in ALL children due to the low thiopurine S-methyltransferase (TPMT) activity, a major enzyme involved in 6- mercaptopurine metabolism, which strongly correlates to the genetic polymorphism of the TPMT gene in those patients.
Objective: To identify the most common TPMT polymorphisms in children with ALL and its frequencies.
Methods: A cross sectional study enrolling eighty-one ALL children receiving mercaptopurine drug during their maintenance course of treatment according to UKALL – 2011 protocol, were enrolled in this study. After DNA extraction from whole blood TPMT genetic polymorphisms were detected by allele-specific multiplex-PCR analysis.
Results: A total of 51 children with allele frequencies of (62.96%) were homozygous for the wild-type allele TPMT*1, 30 children with allelic frequency of (37.03%) were heterozygous for one of the two mutant alleles (TPMT*3A or TPMT*3C) with allele frequencies of 29.62% and 7.4% respectively, while no result was found homozygous for two mutant alleles or TPMT*3B allele.
Conclusions: This is the first study in Iraq to identify the genetic polymorphism of TPMT in a group of ALL children being treated for ALL. The study revealed the presence of TPMT*3A and TPMT*3C genetic polymorphisms among the study sample, no TPMT*3B was identified in the study sample.
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