Two novel variants of the PVRL 1 gene were identified in nsCL/P patients. These findings suggest that PVRL1 variants make a contribution to nsCL/P in Turkish patients.
Purpose In the present study, we aimed to investigate the effects of tomato powder (TP) on glucose and lipid metabolism, as well as oxidative stress and the NF-κB, mTOR, and Nrf2 pathways during the aging process in healthy rats. Methods and Results Male Wistar rats were randomly assigned to four groups as follows: (i) Control group 1 (n=15, 3-week old): rats were fed standard diet for 7 weeks; (ii) TP group 1 (n=15, 3-week old): rats were fed standard diet supplemented with TP for 7 weeks; (iii) Control group 2 (n=15, 8-week old): rats were fed standard diet for 69 weeks; and (iv) TP group 2 (8-week old): rats were fed standard diet supplemented with TP for 69 weeks. TP supplementation significantly reduced the hyperglycemia, hypertriglyceridemia, and hypercholesterolemia and improved liver function and kidney function in 77-week old rats compared with the control animals (P < 0.05). In addition, TP significantly decreased the serum and liver MDA levels (P < 0.003 and P < 0.001, respectively) while increasing the activities of liver SOD (P < 0.001), CAT (P < 0.008), and GPx (P < 0.01) compared with the control groups in both 10-week-old and 77-week-old rats (P < 0.05). Age-related increases in phosphorylation of NF-κBp65, mTOR, 4E-BP1, and P70S6K were observed in livers of 77-week-old rats compared to those of 10-week-old rats (P < 0.001). TP supplementation decreased the expression of NF-κBp65 and activation of mTOR, 4E-BP1, and P70S6K in livers of 77-week-old rats compared to the control animals. Moreover, TP supplementation significantly elevated Nrf2 expression in livers of both 10-week-old and 77-week-old rats (P < 0.05). Conclusion TP ameliorates age-associated inflammation and oxidative stress through the inhibition of NF-κBp65, mTOR pathways, and Nrf2 activation may explain the observed improvement in glucose and lipid metabolism as well as the improved liver and kidney functions.
Purpose: The measurement of T-cell receptor excision circle (TREC) is being used in newborn screening (NBS) for severe combined immunodeficiency (SCID). Here, we report the results of newborn screening pilot program for SCID conducted in Turkey.Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health (Public Health General Directorate and Pediatric and Adolescent Health Department). TREC measurements were performed in randomly selected Guthrie card samples obtained from 20.253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (β-Actin) via RT-PCR (Real Time Polymerase Chain Reaction) Results: TREC copy numbers found normal in 98.6% of the newborns (n: 19.975) at the initial analyses. Two among 10 babies who had undetectable TREC copies diagnosed as SCID; ADA and RAG1 defects confirmed respectively in the first (NB1/P1) and the second (NB2/P2) baby. They both received curative treatments (gene therapy and HSCT) free from live vaccines and life-threatening infections occurred. The remaining 6 of 8 newborns who had low (< 46 copies/DBS and <15 copies/µl) TREC copy numbers found normal following clinical and laboratory work-up while medical records related to other two reveled early postnatal death due to extreme prematurity. Conclusion: In the light of this study the incidence of SCID was detected at least 1/10.000 live births in Turkey. Finally, it is quite clear that SCID should be included as early as possible into the national NBS program in Turkey.
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