Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature (2024)
Title : Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature
Researcher :
Abstract : Background: Fragile X syndrome (FXS) is mainly caused by FMR1 CGG repeat expansions. Other types of mutations, particularly deletions, are also responsible for FXS phenotypes, however these mutations are often missed by routine clinical testing.
Materials and methods: Molecular diagnosis in cases of suspected FXS was a combination of PCR and Southern blot. Measurement of the FMRP protein level was useful for detecting potentially deleterious impact.
Results: PCR analysis and Southern blot revealed a case with premutation and suspected deletion alleles. Sanger sequencing showed that the deletion involved 313 bp upstream of repeats and some parts of CGG repeat tract, leaving transcription start site. FMRP was detected in 5.5 % of blood lymphocytes.
Conclusion: According to our review of case reports, most patients carrying microdeletion and full mutation had typical features of FXS. To our knowledge, our case is the first to describe mosaicism of a premutation and microdeletion in the FMR1 gene. The patient was probably protected from the effects of the deletion by mosaicism with premutation allele, leading to milder phenotype. It is thus important to consider appropriate techniques for detecting FMR1 variants other than repeat expansions which cannot be detected by routine FXS diagnosis.
Keywords: Deletion; FMR1; Fragile X syndrome; Mosaicism; Premutation.
Link to article : Clinica Chimica Acta, 2024, 553, 117728. https://doi.org/10.1016/j.cca.2023.117728
Journal : Clinica Chimica Acta / in Scopus
Citation : Hnoonual, A., Plong-On, O., Worachotekamjorn, J., Charalsawadi, C., Limprasert, P. (2024). Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature. Clinica Chimica Acta, 553, 117728. https://doi.org/10.1016/j.cca.2023.117728
ฐานข้อมูลงานวิจัย มหาวิทยาลัยสยาม : –
Expert consensus guidelines for community pharmacists in the management of diabetic peripheral neuropathy with a combination of neurotropic B vitamins (2024)
Title : Expert consensus guidelines for community pharmacists in the management of diabetic peripheral neuropathy with a combination of neurotropic B vitamins
Researcher : Thanompong Sathienluckana, Sirinoot Palapinyo, Kitiyot Yotsombut, Ekgaluck Wanothayaroj, Pasiri Sithinamsuwan & Naeti Suksomboon
Link to article: Journal of Pharmaceutical Policy and Practice, issue 1(17), 2024 https://doi.org/10.1080/20523211.2024.2306866
Journal : Journal of Pharmaceutical Policy and Practice / in Scopus
ฐานข้อมูลงานวิจัย มหาวิทยาลัยสยาม : https://e-research.siam.edu/kb/expert-consensus-guidelines/
Factors Affecting Research Conduct and Publication Among Thai Medical Students in University-Affiliated Medical Schools (2024)
Title : Factors Affecting Research Conduct and Publication Among Thai Medical Students in University-Affiliated Medical Schools
Researcher : Thana Khawcharoenporn, Sumalee Kondo, Naesinee Chaiear, Krishna Suvarnabhumi & Sarawut Lapmanee
Department : Faculty of Medicine, Siam University, Bangkok, Thailand
E-mail : sarawut.lap@siam.ed
Link to article : Journal of Academic Ethics DOI: https://doi.org/10.1007/s10805-023-09500-9
Citation : Khawcharoenporn, T., Kondo, S., Chaiear, N., Suvarnabhumi, K., & Lapmanee, S. (2024). Factors Affecting Research Conduct and Publication Among Thai Medical Students in University-Affiliated Medical Schools. Journal of Academic Ethics, (2024). https://doi.org/10.1007/s10805-023-09500-9
Journal : Journal of Academic Ethics / in Scopus
ฐานข้อมูลงานวิจัย มหาวิทยาลัยสยาม : https://e-research.siam.edu/kb/factors-affecting-research-conduct/
On the analytical modeling of fractal memelement and inverse memelement (2024)
Title : On the analytical modeling of fractal memelement and inverse memelement
Researcher : Banchuin, R.
Department : Faculty of Engineering, Siam University, Bangkok, Thailand
Email : rawid.ban@siam.edu
Abstract : In this work, an improved analytical model of fractal memelement in which the pinched point shifting has been considered and the original analytical model of fractal inverse memelement have been proposed. These fractal circuit elements are the memelement, and inverse memelement operates based on the principle of electromagnetic in fractal time/space, which must be applied whenever the current flows through fractal media. These models are important because these memory elements can be realized based on the porous material, which is a fractal media. In addition, they can employ self-similarity, which is hard to be simulated by using the traditional models. This is because such self-similarity can be well explained by the fractal set-based model, yet those traditional models are based on the set of real values. Therefore, for deriving the proposed models, the fractal calculus, which is oriented to the fractal set, has been adopted as the mathematical basis. From the analytical and numerical analyses based on the derived models, it has been found that both memelement and inverse memelement can retain their unique frequency characteristics despite being operated based on the abovementioned principle. In addition, their input–output relationships are mathematically differentiable albeit the inputs and outputs themselves are not.
Link to article : International Journal of Circuit Theory and Applications, Version of Record online: 26 March 2024 https://doi.org/10.1002/cta.4023
Journal : International Journal of Circuit Theory and Applications / in Scopus
Bibliography : Banchuin, R. (2024, March 26). On the analytical modeling of fractal memelement and inverse memelement. International Journal of Circuit Theory and Applications, Version of Record online. https://doi.org/10.1002/cta.4023
On the fractional domain analysis of negative group delay circuits (2024)
Title : On the fractional domain analysis of negative group delay circuits
Researcher : Banchuin, R.
Department : Faculty of Engineering, Siam University, Bangkok, Thailand
Email : rawid.ban@siam.edu
Abstract : In this work, the analysis of negative group delay circuits in fractional domain has been conducted. The low pass and the high pass negative group delay circuits constructed based on passive network have been chosen as our candidate circuits. For performing the analysis in fractional domain, the novel Caputo–Fabrizio derivative-based fractional impedance have been introduced to both circuits. The crucial parameters, the necessary conditions, and the existence conditions of both candidate negative group delay circuits have been formulated. The simulations have been conducted based on the formulated results where the comparisons with the conventional prototypes have been made. The verifications by the proof-of-concept circuits have also been performed. In addition, the effects of variation in the order of fractional impedances have been investigated. In summary, it has been found that considering these negative group delay circuits in the fractional domain, which effectively taking unavoidable nonidealities that cannot be modeled in conventional domain into account, significantly alters their characteristics especially the low pass circuit. However they can retain their low pass and high pass negative group delay functions.
Link to article : International Journal of Circuit Theory and Applications, 2024, 52(3), pp. 1531–1546 https://doi.org/10.1002/cta.3819
Journal : International Journal of Circuit Theory and Applications / in Scopus
Bibliography : Banchuin, R. (2024). On the fractional domain analysis of negative group delay circuitsd. International Journal of Circuit Theory and Applications, 52(3), 1531–1546 https://doi.org/10.1002/cta.3819
Stress-induced changes in cognitive function and intestinal barrier integrity can be ameliorated by venlafaxine and synbiotic supplementations (2024)
Title : Stress-induced changes in cognitive function and intestinal barrier integrity can be ameliorated by venlafaxine and synbiotic supplementations
Researcher : Sarawut Lapmanee, Nattapon Supkamonseni, Sakkarin Bhubhanil, Nattakan Treesaksrisakul, Chaiyos Sirithanakorn, Mattaka Khongkow, Katawut Namdee, Piyaporn Surinlert, Chittipong Tipbunjong and Prapimpun Wongchitrat
Department : Faculty of Medicine, Siam University, Bangkok, Thailand
E-mail : sarawut.lap@siam.ed
Link to article : PeerJ, 2024, 12, e17033. https://doi.org/10.7717/peerj.17033
Citation : (2024). Stress-induced changes in cognitive function and intestinal barrier integrity can be ameliorated by venlafaxine and synbiotic supplementations. PeerJ, 12, e17033. https://doi.org/10.7717/peerj.17033
Journal : PeerJ / in Scopus
ฐานข้อมูลงานวิจัย มหาวิทยาลัยสยาม : https://e-research.siam.edu/kb/stress-induced-change/
Tolerance development in cow’s milk-allergic children receiving amino acid-based formula with synbiotics: 36-Months follow-up of a randomized controlled trial (PRESTO Study) (2024)
Title : Tolerance development in cow’s milk-allergic children receiving amino acid-based formula with synbiotics: 36-Months follow-up of a randomized controlled trial (PRESTO Study)
Researcher : , , , , , , , , , , , , , , , , , ,
Department : Faculty of Medicine, Siam University, Bangkok, Thailand
E-mail : med@siam.edu
Link to article : Journal of Pediatric Gastroenterology and Nutrition, 2024, 78(3), pp. 699–703. https://doi.org/10.1002/jpn3.12104
Citation : Chatchatee, P., Nowak-Wegrzyn, A., Lange, L., , , K. W., , P., , S. R. B. M.,, M. T. J., , M. M., , J. E., , V., , R., , C. M., , A., , M., A. T., Michaelis, L. J., & Beyer, K. (2024). Tolerance development in cow’s milk-allergic children receiving amino acid-based formula with synbiotics: 36-Months follow-up of a randomized controlled trial (PRESTO Study). Journal of Pediatric Gastroenterology and Nutrition, 78(3), 699–703. https://doi.org/10.1002/jpn3.12104
Journal : Journal of Pediatric Gastroenterology and Nutrition / in Scopus
ฐานข้อมูลงานวิจัย มหาวิทยาลัยสยาม : –
คู่มือการบันทึกข้อมูลเพื่อจัดทำเอกสารสำหรับธุรกิจ ประเภทตัวแทนรับจัดการขนส่งสินค้าระหว่างประเทศ ในระบบ WISEPAQ FWD SHIP
Title: คู่มือการบันทึกข้อมูลเพื่อจัดทำเอกสารสำหรับธุรกิจ ประเภทตัวแทนรับจัดการขนส่งสินค้าระหว่างประเทศ ในระบบ WISEPAQ FWD SHIP
อาจารย์ผู้สอน: อาจารย์ อรนุช อินทวงศ์ คณะบริหารธุรกิจ มหาวิทยาลัยสยาม
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Bibliography : อรนุช อินทวงศ์. (2567). คู่มือการบันทึกข้อมูลเพื่อจัดทำเอกสารสำหรับธุรกิจ ประเภทตัวแทนรับจัดการขนส่งสินค้าระหว่างประเทศ ในระบบ WISEPAQ FWD SHIP. คณะบริหารธุรกิจ มหาวิทยาลัยสยาม.
ปัจจัยที่สัมพันธ์ต่อการใช้ยาปฏิชีวนะอย่างไม่สมเหตุผลของประชาชนที่ใช้สื่อออนไลน์ (2567)
Title : ปัจจัยที่สัมพันธ์ต่อการใช้ยาปฏิชีวนะอย่างไม่สมเหตุผลของประชาชนที่ใช้สื่อออนไลน์
Researcher : ชินวัจน์ แสงอังศุมาลี, กมลวรรณ ตันติพิวัฒนสกุล, พรพรรณ ประจักษ์เนตร, สุญาณี พงษ์ธนานิกร และณัฐกานต์ ทองแท้ – Shinnawat Saengungsumalee, Kamolwan Tantipiwattanasakul, Pornpun Prajaknate, Suyanee Pongthananikorn and Nattakarn Thongtae
ฐานข้อมูลงานวิจัย มหาวิทยาลัยสยาม : https://e-research.siam.edu/kb/factors-associated-with-irrational-antibiotic/
Link to article: วารสารวิชาการสาธารณสุข ปีที่ 33 ฉบับที่ 1 มกราคม – กุมภาพันธ์ 2567 หน้า 27-37 | Journal of Health Science of Thailand Vol. 33 No. 1, January – February 2024 p.27-37
https://thaidj.org/index.php/JHS/article/view/12945
Journal : วารสารวิชาการสาธารณสุข Journal of Health Science of Thailand / TCI กลุ่มที่ : 1