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Zeziulin O., Mollan K.R., Shook-Sa B.E., Hanscom B., Lancaster K.E., Dumchev K., Go V.F., Chu V.A., Kiriazova T., Syarif Z., Dvoryak S., Reifeis S.A., Hamilton E., Sarasvita R., Rose S., Richardson P., Clarke W., Latkin C.A., Metzger D.S., Hoffman I.F., Miller W.C. |
55759565100;26659057900;55990940100;6603650318;55503210000;8923601900;7102536801;57195576444;55757875500;57216745876;15051444200;57193208279;56450237600;50462352200;12544917400;57203639655;16400885000;7006006751;35944632400;7006682600;57217026028; |
Depressive symptoms and use of HIV care and medication-assisted treatment among people with HIV who inject drugs |
2021 |
AIDS |
35 |
3 |
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495 |
501 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85101895969&doi=10.1097%2fQAD.0000000000002774&partnerID=40&md5=dc8da3aef65727a23f50b2418240ffe3 |
Ukrainian Institute on Public Health Policy, Kyiv, Ukraine; School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Statistical Center for HIV/AIDS Research and Prevention (SCHARP), Fred Hutchinson Cancer Research Center, Seattle, WA, United States; College of Public Health, The Ohio State University, Columbus, OH, United States; UNC Vietnam, Ho Chi Minh City, Viet Nam; Abhipraya Foundation, Department Psychiatry, Faculty of Medicine, University of Indonesia, Depok, Indonesia; Family Health International (FHI 360), Durham, NC, United States; Indonesia National Narcotics Board, Abhipraya Foundation, East Jakarta, Indonesia; Johns Hopkins University, Baltimore, MD, United States; University of Pennsylvania, Philadelphia, PA, United States |
Zeziulin, O., Ukrainian Institute on Public Health Policy, Kyiv, Ukraine; Mollan, K.R., School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States, Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Shook-Sa, B.E., Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Hanscom, B., Statistical Center for HIV/AIDS Research and Prevention (SCHARP), Fred Hutchinson Cancer Research Center, Seattle, WA, United States; Lancaster, K.E., College of Public Health, The Ohio State University, Columbus, OH, United States; Dumchev, K., Ukrainian Institute on Public Health Policy, Kyiv, Ukraine; Go, V.F., Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Chu, V.A., UNC Vietnam, Ho Chi Minh City, Viet Nam; Kiriazova, T., Ukrainian Institute on Public Health Policy, Kyiv, Ukraine; Syarif, Z., Abhipraya Foundation, Department Psychiatry, Faculty of Medicine, University of Indonesia, Depok, Indonesia; Dvoryak, S., Ukrainian Institute on Public Health Policy, Kyiv, Ukraine; Reifeis, S.A., Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Hamilton, E., Family Health International (FHI 360), Durham, NC, United States; Sarasvita, R., Indonesia National Narcotics Board, Abhipraya Foundation, East Jakarta, Indonesia; Rose, S., Family Health International (FHI 360), Durham, NC, United States; Richardson, P., Johns Hopkins University, Baltimore, MD, United States; Clarke, W., Johns Hopkins University, Baltimore, MD, United States; Latkin, C.A., University of Pennsylvania, Philadelphia, PA, United States; Metzger, D.S., University of Pennsylvania, Philadelphia, PA, United States; Hoffman, I.F., School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States; Miller, W.C., College of Public Health, The Ohio State University, Columbus, OH, United States |
Objective: Vietnam, Indonesia, and Ukraine have major burdens of IDU and HIV. We estimated the prevalence of depressive symptoms at baseline among people living with HIV who inject drugs, evaluated associations between depression at baseline and 12-month HIV care outcomes and medication-assisted treatment (MAT), and evaluated the study intervention effect by baseline depression subgroups. Design: HPTN 074 was a randomized study. The study intervention included psychosocial counseling, systems navigation, and antiretroviral treatment (ART) at any CD4þ cell count. Methods: Moderate-to-severe depression was defined as a Patient Health Questionnaire-9 score of 10 or above. ART and MAT were self-reported. Eligibility criteria were: 18–60 years of age, active IDU, and viral load of at least 1000 copies/ml. Adjusted probability differences (aPD) were estimated using inverse-probability weighting. Results: A total of 502 participants enrolled from April 2015 to June 2016. Median age was 35 years; 85% identified as men. Prevalence of baseline moderate-to-severe depression was 14% in Vietnam, 14% in Indonesia, and 56% in Ukraine. No evident associations were detected between baseline depression and ART, viral suppression, or MAT at 12-month follow-up. The study intervention improved the proportions of people who inject drugs achieving 12-month viral suppression in both the depressed [intervention 44%; standard of care 24%; estimated aPD ¼ 25% (95% confidence interval: 4.0%, 45%)] and nondepressed subgroups [intervention 38%; standard of care 24%; aPD ¼ 13% (95% confidence interval: 2.0%, 25%)]. Conclusion: High levels of depressive symptoms were common among people living with HIV who inject drugs in Ukraine but were less common in Vietnam and Indonesia. The study intervention was effective among participants with or without baseline depression symptoms. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved. |
Antiretroviral therapy; Depression; Drug users; HIV; Opioid medication assisted treatment; Viral load |
antiretrovirus agent; CD4 antigen; drug; adult; antiretroviral therapy; Article; CD4 lymphocyte count; cohort analysis; controlled study; depression; disease burden; disease severity; female; follow up; health care quality; human; Human immunodeficiency virus infected patient; Human immunodeficiency virus infection; Indonesia; injection drug user; major clinical study; male; mortality; mortality rate; nonhuman; outcome assessment; patient care; patient counseling; Patient Health Questionnaire 9; prevalence; psychosocial care; randomized controlled trial; Ukraine; Viet Nam; virus inhibition; virus load; complication; depression; Adult; Depression; HIV Infections; Humans; Indonesia; Male; Pharmaceutical Preparations; Ukraine; Vietnam; Viral Load |
Lippincott Williams and Wilkins |
02699370 |
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33252489 |
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205 |
Krisanti E.A., Gofara T.Z., Rahyussalim A.J., Mulia K. |
14019920500;57260804700;55212166100;6507666535; |
Polyvinyl alcohol (PVA)/chitosan/sodium tripolyphosphate (STPP) hydrogel formulation with freeze-thaw method for anti-tuberculosis drugs extended release |
2021 |
AIP Conference Proceedings |
2370 |
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020010 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85115001335&doi=10.1063%2f5.0063175&partnerID=40&md5=a3c9afce6e9d9f6305976a87eb3a4790 |
Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia; Department of Orthopedic and Traumatology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, 10430, Indonesia |
Krisanti, E.A., Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia; Gofara, T.Z., Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia; Rahyussalim, A.J., Department of Orthopedic and Traumatology, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, 10430, Indonesia; Mulia, K., Department of Chemical Engineering, Faculty of Engineering, Universitas Indonesia, Depok, 16424, Indonesia |
Tuberculosis (TB) is one of the infectious diseases which must be routinely oral treated with anti-tuberculosis drugs performed 12-24 months. With treatment using drug implans that can release TB drugs in a longer time in the target location, it will be more effective, because the drug will be close to the target and go directly into the blood. In this study, the PVA / chitosan / STPP hydrogel formulation loaded with 4 types of anti-tuberculosis drugs (isoniazid, ethambutol, pirazinamide, and rifampicin) made using the freeze-thaw method. It is obtained that chitosan addition up until 20% could reduce drug's release rate and hold drug's release until 30 days, but the effect of STPP addition could not be seen because the ammount added is too small which is also shown from FTIR study that there is no STPP in the hydrogel detected. 80% PVA-20% Chitosan- 2% STPP hydrogel formulation release TB drugs the slowest and extended on Isoniazid, Ethambutol, and Rifampicin. SEM study shown that chitosan addition in PVA hydrogel resulted a homogen solution, and hydrogel with densely folded surface. 2% STPP addition resulted in smoother, more homogenous, and smaller pores morphology. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735441262 |
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Conference Paper |
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177 |
20880 |
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229 |
Nadhif M.H., Irsyad M., Rahyussalim A.J., Utomo M.S. |
57189057498;57220935587;55212166100;56180933900; |
Geometrical evaluation of CAM-configured thermoplastic polyurethane lattices for intervertebral disc replacements |
2021 |
AIP Conference Proceedings |
2382 |
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030006 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85114011637&doi=10.1063%2f5.0060049&partnerID=40&md5=894c1cbce6bdc985a2b86b40dcf80e06 |
Department of Medical Physics, Faculty of Medicine, Universitas Indonesia, Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Department of Orthopedics and Traumatology, Faculty of Medicine, Universitas Indonesia/Cipto Mangunkusumo Central Hospital, Jakarta, 10430, Indonesia; Stem Cell and Tissue Engineering Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Research Center for Metallurgy and Material, Indonesia Institute of Science (LIPI), Banten, 15310, Indonesia |
Nadhif, M.H., Department of Medical Physics, Faculty of Medicine, Universitas Indonesia, Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia, Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Irsyad, M., Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Rahyussalim, A.J., Department of Orthopedics and Traumatology, Faculty of Medicine, Universitas Indonesia/Cipto Mangunkusumo Central Hospital, Jakarta, 10430, Indonesia, Stem Cell and Tissue Engineering Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia; Utomo, M.S., Department of Medical Physics, Faculty of Medicine, Universitas Indonesia, Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia, Medical Technology Cluster, Indonesia Medical Education and Research Institute (IMERI), Jl. Salemba Raya No. 6, DKI Jakarta, 10430, Indonesia, Research Center for Metallurgy and Material, Indonesia Institute of Science (LIPI), Banten, 15310, Indonesia |
Intervertebral discs (IVD) are prone to deformation due to higher stress that the discs can endure. Treatments for deformed IVDs include total disc replacements. Some studies concluded the superiority of spinal fusion compared to total disc replacement devices, either in the lumbar or cervical region. In current study, cuboid scaffolds made of thermoplastic polyurethane with lattice architecture were designed and configured using computer-aided manufacturing (CAM). The scaffolds were fabricated using fused filament fabrication. Process parameters were characterized and optimized to obtain scaffolds with uniform cells distribution. The struts at the top surface had average width values closer to the setpoints than the struts at the bottom surface, indicated by lower RMSE values for the struts at the top surface. However, the printing consistency in the same extrusion ratio at the bottom surface was higher than at the top surface, indicated by lower standard deviation values. Statistical analysis using standard deviation, RMSE, and Tukey's test showed that current scaffolds had non-uniform distribution between layers, which required further improvement. © 2021 Author(s). |
Computer-aided manufacturing; intervertebral disc; lattice structure; polyurethane |
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American Institute of Physics Inc. |
0094243X |
9780735441156 |
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Conference Paper |
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177 |
20880 |
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392 |
Hardiany N.S., Amaanullah M.Z.B., Antarianto R.D. |
57192910605;57224223597;57190862806; |
The effect of fasting on malondialdehyde level in liver and plasma of New Zealand white rabbits |
2021 |
AIP Conference Proceedings |
2353 |
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030093 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85107282294&doi=10.1063%2f5.0052627&partnerID=40&md5=f1091bc64391ab80b12474af251808e8 |
Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Indonesia, Indonesia; Center of Hypoxia and Oxidative Stress Studies, Department of Biochemistry and Molecular Biology, Faculty of Medicine Universitas Indonesia, Indonesia; Faculty of Medicine Universitas Indonesia, Indonesia; Departemnet of Histology, Faculty of Medicine Universitas Indonesia, Indonesia |
Hardiany, N.S., Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Indonesia, Indonesia, Center of Hypoxia and Oxidative Stress Studies, Department of Biochemistry and Molecular Biology, Faculty of Medicine Universitas Indonesia, Indonesia; Amaanullah, M.Z.B., Faculty of Medicine Universitas Indonesia, Indonesia; Antarianto, R.D., Departemnet of Histology, Faculty of Medicine Universitas Indonesia, Indonesia |
Oxidative stress is a state of imbalance of free radicals in the cells and is one of the causes of various diseases in humans. One method that is thought to reduce oxidative stress is calorie restriction or fasting. However, its effects remain unclear. This study was conducted to determine the effect of intermittent fasting and prolonged fasting on the levels of malondialdehyde (MDA) as an oxidative stress marker in the liver and plasma of New Zealand White rabbits. Fifteen of New Zealand White rabbits were divided into three groups (intermittent fasting (IF), prolonged fasting (PF), and control). MDA was measured in plasma and liver homogenate using spectrophotometry. The results were analyzed using One-way ANOVA test. The liver MDA level was decreased in the IF group, but not significant. However, there was a significant increase in plasma MDA levels both in the IF and PF groups. Moreover, liver MDA level was increased in PF group, although it was not significant. In conclusion, intermittent and prolonged fasting could increase plasma MDA levels significantly. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440968 |
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Conference Paper |
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177 |
20880 |
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393 |
Yusra Y., Widjaja L., Witjaksono F., Timan I.S., Kumalawati J., Adiyanti S.S., Nurbaya S., Immanuel S. |
57220998367;56906852200;57070455800;6602793366;6504406695;57191952811;57225297244;12777341300; |
Amino acid profile in patients of chronic kidney disease on hemodialysis in Indonesia |
2021 |
AIP Conference Proceedings |
2353 |
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030014 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85107266850&doi=10.1063%2f5.0052847&partnerID=40&md5=ca448315d7144ead78ebf8040fae2eb4 |
Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Department of Nutrition, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia |
Yusra, Y., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Widjaja, L., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Witjaksono, F., Department of Nutrition, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Timan, I.S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Kumalawati, J., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Adiyanti, S.S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Nurbaya, S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia; Immanuel, S., Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo National Referral Hospital, Jakarta, Indonesia |
Protein energy wasting (PEW) is a nutritional disorder syndrome that occurs 28-80% in chronic kidney disease (CKD) patients on hemodialysis. Hemodialysis cause the nutrients loss including amino acids, increase protein catabolism induced by inflammation, and inhibit protein synthesis. The objective of this study was to acquire the amino acid profile in CKD patients on hemodialysis. This study used cross sectional design and involving 60 subjects of CKD patients aged >18 years on routine hemodialysis at Dr. Cipto Mangunkusumo National Referral Hospital. Amino acids examination was using dried blood spots (DBSs) sample and Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS) method. We examined 10 non-essential (alanine, arginine, aspartic acid, glutamic acid, asparagine, glycine, glutamine, proline, serine, tyrosine), 9 essentials (histidine, phenylalanine, isoleucine, leucine, lysine, methionine, threonine, tryptophan, valine), and 2 special (ornithine, citrulline) amino acids. The results showed that almost all amino acids were lower (6 non-essential, 8 essentials, and citrulline), whereas others were higher (aspartate acid, serine) or normal (glutamic acid, glycine, methionine, and ornithine) than normal reference value from Mayo. CKD patients on hemodialysis have decreased amino acid especially essential amino acids. These results can be used in modification of amino acid supplementation CKD patient on hemodialysis in Indonesia. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440968 |
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Conference Paper |
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177 |
20880 |
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434 |
Pustimbara A., Putri D.C., Prakoso N.M., Priambodo R., Ariani Y., Yuliarti K., Bowolaksono A., Sjarif D.R. |
57217086984;57204606877;57214084050;57190937999;57200504713;54917483500;57205093224;6506242684; |
Novel base alterations at intron 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population |
2021 |
AIP Conference Proceedings |
2331 |
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050028 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103860378&doi=10.1063%2f5.0042047&partnerID=40&md5=80d1cbd9c9334c733fed5caccbb5bdad |
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia |
Pustimbara, A., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Putri, D.C., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Ariani, Y., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Yuliarti, K., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Bowolaksono, A., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia |
6-pyruvoyl-tetrahydropterin synthase (PTPS) or tetrahydrobiopterin (BH4) deficiency is the most common enzyme synthesis defect which was reported to cause of hyperphenylalaninemia. This deficiency is caused by pathogenic variant in exons and introns of 6-pyruvoyl-tetrahydropterin synthase (PTS) gene in chromosome 11q22.3-q23.3. This study is focused on the detection of DNA variants in intron 3 especially for insertion and base alteration. Methods that has been carried out in this study are DNA isolation, polymerase chain reaction (PCR), the visualization of PCR products through DNA electrophoresis, and Sanger sequencing. A total 29 variants have been characterized in this study, obtained from the DNA of one Indonesian PTPS patients and 33 healthy individuals as control. Those alterations were categorized into substitution and intronic insertion and located in the sequence of intron 3 and 4 of PTS gene. Further analyses are required to be performed to characterize the effect of identified variants to the splicing events of PTS mRNA. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
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177 |
20880 |
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435 |
Widyaningrum A.R., Prakoso N.M., Priambodo R., Aswin Y.A., Hafifah C.N., Sjarif D.R. |
57211929162;57214084050;57190937999;57222721787;57204112129;6506242684; |
Identification of novel mutations in exon 1 of iduronate-2-sulfatase gene from mucopolysaccharidosis type II patient in Indonesia |
2021 |
AIP Conference Proceedings |
2331 |
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050026 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103846997&doi=10.1063%2f5.0042045&partnerID=40&md5=23bc8c1777e9bfa31dccebb034820f8e |
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia |
Widyaningrum, A.R., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Aswin, Y.A., Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Hafifah, C.N., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia |
Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked recessive lysosomal storage disorder caused by the accumulation of heparan sulfate and dermatan sulfate due to iduronate-2-sulfatase (IDS) enzyme deficiency. To detect IDS gene mutation, DNA samples are obtained from 10 MPS II patients and 50 normal individuals, then the exon 1 of IDS gene was analyzed with Sanger sequencing. Two novel mutations are found from one male patient at the site of c.22C>A (p.Arg8=) and c.54C>A (p.Ser18Arg). Both mutations are not located in the bases which are responsible as the signal peptide cleavage site. Amino acid substitution c.54C>A (p.Ser18Arg) does not change the hydrophobic characteristic as both amino acids are hydrophobic. Therefore, those mutations do not change IDS enzyme structure nor alter the signaling pathway of IDS mRNA-ribosome complex to the endoplasmic reticulum. This study of exon 1 is the first to be performed in Indonesia. The novel mutations found in this study can contribute to a single nucleotide polymorphism (SNP) database of MPS II patients from all over the world, thus it leads to a deeper understanding of this rare disease at the molecular level. Therefore, a genotype study is needed to get a full profile of MPS II patients in Indonesia. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
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436 |
Pustimbara A., Prakoso N.M., Priambodo R., Ariani Y., Arianto S., Pangestika Y., Bowolaksono A., Sjarif D.R. |
57217086984;57214084050;57190937999;57200504713;57190933807;57204110196;57205093224;6506242684; |
Variant analysis for exon 2 and 5 of iduronate 2-sulfatase gene on mucopolysaccharidosis type II patients in Indonesia |
2021 |
AIP Conference Proceedings |
2331 |
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050027 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103846040&doi=10.1063%2f5.0042046&partnerID=40&md5=1aea65a5d9d11be167de0e0b76440cc5 |
Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia |
Pustimbara, A., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Ariani, Y., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Arianto, S., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Pangestika, Y., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Bowolaksono, A., Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia |
Mucopolysaccharidosis type II (MPS II or Hunter Syndrome) is one of lysosomal storage disorder caused by the presence of pathogenic variant in IDS gene. The variant can be found in various exon locations. This research aimed to identify the presence of disease-causing variant that may occurs at exon 2 and 5 of IDS gene on MPS II patient, especially in Indonesia. Based on the previous research that has been conducted in a number of countries, exon 2 and 5 are the exons with the most number of variations. Analysis was conducted on 7 MPS II patient of Indonesian origin and 50 normal individuals as control that consist of 25 male or 25 female individuals. Analysis was done by going through steps of DNA isolation, amplification by polymerase chain reaction (PCR), visualization by electrophoresis, and sequencing. Research result shows that IDS gene from whole samples were successfully analyzed. This study discovered an adenine base deletion c.708+72delA in intron 5 of one healthy individual. The variant is novel and classified as likely benign. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
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177 |
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437 |
Sulaiman R.A.R., Aji R.P., Prakoso N.M., Priambodo R., Aswin Y.A., Hafifah C.N., Sjarif D.R. |
57203195674;57214097675;57214084050;57190937999;57222721787;57204112129;6506242684; |
Variant identification of exon 11 of galactosamine (N-acetyl)-6-sulfatase (GALNS) gene in mucopolysaccharidosis type IVA patients in Indonesia |
2021 |
AIP Conference Proceedings |
2331 |
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050025 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103831975&doi=10.1063%2f5.0042042&partnerID=40&md5=62e2f8987a113373133b39a10f6bba9d |
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia |
Sulaiman, R.A.R., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Aji, R.P., Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, Indonesia; Prakoso, N.M., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo, R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Aswin, Y.A., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Universitas Indonesia, RSUPN, Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Depok, Indonesia; Hafifah, C.N., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia; Sjarif, D.R., Human Genetics Research Center, Indonesian Medical Education and Research Institute (IMERI), Universitas Indonesia, Jakarta, 10430, Indonesia |
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive disease, in which lysosomes are unable to catalyze glycosaminoglycans due to deficiency of the enzyme galactosamine (N-acetyl)-6-sulfatase (GALNS), encoded by GALNS gene. The exon 11 of GALNS gene is known as one of the mutation hotspot regions and encode the enzyme scaffolding structure along with exon 8-10 and 12-14. The GALNS enzyme deficiency leads to abnormal accumulation of glycosaminoglycans inside the lysosomes, rendering the cell unable to function properly. Symptoms of MPS IVA are commonly seen as skeletal dysplasia and multi-organ complications. Research on MPS IVA has been done in many countries, but not in Indonesia. This study aims to identify variants that may be present in exon 11 of GALNS gene in MPS IVA patients in Indonesia. The study was conducted using DNA from blood samples of 7 MPS IVA patients and 30 healthy individuals as controls, obtained from Cipto Mangunkusumo Hospital, Jakarta. A set of specific primers of exon 11 was designed and optimized before completing DNA extraction. Then, DNA extraction was performed, further amplified using the polymerase chain reaction technique. PCR products were visualized by electrophoresis and proceeded for Sanger sequencing. The sequencing results indicated that a variant c.1177G>T (p.Ala393Ser) was found in one patient and five healthy individuals. This variant has been reported in Japan before and identified as benign with more than 5% MAF globally. This research may provide additional information to existing databases for research in MPS IVA, especially in Indonesia. © 2021 Author(s). |
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American Institute of Physics Inc. |
0094243X |
9780735440753 |
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Conference Paper |
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177 |
20880 |
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