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114 |
Andrianto, Al-Farabi M.J., Nugraha R.A., Marsudi B.A., Azmi Y. |
57221812919;57210466548;57200701510;57201975146;57200278939; |
Biomarkers of endothelial dysfunction and outcomes in coronavirus disease 2019 (COVID-19) patients: A systematic review and meta-analysis |
2021 |
Microvascular Research |
138 |
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104224 |
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2 |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85111341102&doi=10.1016%2fj.mvr.2021.104224&partnerID=40&md5=d5cc3fe2a0d5a70658ecff8ad7fa6f8b |
Department of Cardiology and Vascular Medicine, Soetomo General Hospital, Faculty of Medicine, Universitas Airlangga, Surabaya, 60286, Indonesia; Department of Cardiology and Vascular Medicine, National Cardiovascular Center Harapan Kita, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Faculty of Medicine, Universitas Airlangga, Surabaya, 60286, Indonesia |
Andrianto, Department of Cardiology and Vascular Medicine, Soetomo General Hospital, Faculty of Medicine, Universitas Airlangga, Surabaya, 60286, Indonesia; Al-Farabi, M.J., Department of Cardiology and Vascular Medicine, Soetomo General Hospital, Faculty of Medicine, Universitas Airlangga, Surabaya, 60286, Indonesia; Nugraha, R.A., Department of Cardiology and Vascular Medicine, Soetomo General Hospital, Faculty of Medicine, Universitas Airlangga, Surabaya, 60286, Indonesia; Marsudi, B.A., Department of Cardiology and Vascular Medicine, National Cardiovascular Center Harapan Kita, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Azmi, Y., Faculty of Medicine, Universitas Airlangga, Surabaya, 60286, Indonesia |
Background: Several studies have reported that the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can directly infect endothelial cells, and endothelial dysfunction is often found in severe cases of coronavirus disease 2019 (COVID-19). To better understand the prognostic values of endothelial dysfunction in COVID-19-associated coagulopathy, we conducted a systematic review and meta-analysis to assess biomarkers of endothelial cells in patients with COVID-19. Methods: A literature search was conducted on online databases for observational studies evaluating biomarkers of endothelial dysfunction and composite poor outcomes in COVID-19 patients. Results: A total of 1187 patients from 17 studies were included in this analysis. The estimated pooled means for von Willebrand Factor (VWF) antigen levels in COVID-19 patients was higher compared to healthy control (306.42 [95% confidence interval (CI) 291.37–321.48], p < 0.001; I2:86%), with the highest VWF antigen levels was found in deceased COVID-19 patients (448.57 [95% CI 407.20–489.93], p < 0.001; I2:0%). Meta-analysis showed that higher plasma levels of VWF antigen, tissue-type plasminogen activator (t-PA), plasminogen activator inhibitor-1 antigen (PAI-1) antigen, and soluble thrombomodulin (sTM) were associated with composite poor outcome in COVID-19 patients ([standardized mean difference (SMD) 0.74 [0.33–1.16], p < 0.001; I2:80.4%], [SMD 0.55 [0.19–0.92], p = 0.003; I2:6.4%], [SMD 0.33 [0.04–0.62], p = 0.025; I2:7.9%], and [SMD 0.55 [0.10–0.99], p = 0.015; I2:23.6%], respectively). Conclusion: The estimated pooled means show increased levels of VWF antigen in COVID-19 patients. Several biomarkers of endothelial dysfunction, including VFW antigen, t-PA, PAI-1, and sTM, are significantly associated with increased composite poor outcomes in patients with COVID-19. PROSPERO registration number: CRD42021228821 © 2021 Elsevier Inc. |
COVID-19; Endothelial dysfunction; Plasminogen activator inhibitor-1; Thrombomodulin; Tissue-type plasminogen activator; von Willebrand Factor |
biological marker; plasminogen activator inhibitor 1; thrombomodulin; tissue plasminogen activator; von Willebrand factor; biological marker; plasminogen activator inhibitor 1; SERPINE1 protein, human; THBD protein, human; thrombomodulin; tissue plasminogen activator; von Willebrand factor; adult; aged; Article; clinical outcome; controlled study; coronavirus disease 2019; endothelial dysfunction; female; human; major clinical study; male; publication bias; systematic review; blood; diagnosis; meta analysis; metabolism; middle aged; pathophysiology; predictive value; prognosis; therapy; vascular endothelium; very elderly; Adult; Aged; Aged, 80 and over; Biomarkers; COVID-19; Endothelium, Vascular; Female; Humans; Male; Middle Aged; Plasminogen Activator Inhibitor 1; Predictive Value of Tes |
Academic Press Inc. |
00262862 |
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34273359 |
Article |
Q2 |
819 |
5848 |
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158 |
Mangunatmadja I., Ismael S., Sastroasmoro S., Suyatna F.D., van Nieuwenhuizen O., Cornelis van Huffelen A. |
57195717216;7003712283;6507794136;57303311300;7004334708;57226810329; |
Risk factors predicting intractability in focal epilepsy in children under 3 years of age: A cohort study |
2021 |
Epilepsy and Behavior |
123 |
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108234 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85112784416&doi=10.1016%2fj.yebeh.2021.108234&partnerID=40&md5=4d05d9ec38151cc168fae550bc699834 |
Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Department of Clinical Pharmacology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Department of Child Neurology, University Medical Center Utrecht, Netherlands; Department of Clinical Neurophysiology, University Medical Center Utrecht, Netherlands |
Mangunatmadja, I., Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Ismael, S., Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Sastroasmoro, S., Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Suyatna, F.D., Department of Clinical Pharmacology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; van Nieuwenhuizen, O., Department of Child Neurology, University Medical Center Utrecht, Netherlands; Cornelis van Huffelen, A., Department of Clinical Neurophysiology, University Medical Center Utrecht, Netherlands |
Background: Focal onset epilepsy carries a higher risk of intractability than generalized onset epilepsy. Knowledge of the risk factors of intractability will help guide the treatment of children with focal epilepsy. In addition to risk factors present at initial diagnosis, the evolution of clinical and electroencephalographic features may also play a role in predicting intractability. Methods: A prospective cohort study was done on children aged one month to three years with newly diagnosed focal epilepsy. Initial treatment of carbamazepine was given according to a standard protocol after assessment of clinical manifestations, neurologic and developmental status, EEG, and brain MRI. Depending on response to therapy, subjects may also receive valproic acid or phenobarbitone following the protocol. Follow-up was done in the second week and every month thereafter. At the end of the study period, seizure type was re-assessed and a repeat neurological and developmental examination and EEG was obtained to evaluate the role of clinical and EEG evolution in predicting intractability. Results: Out of 71 subjects, 21 (29.6%) had intractable epilepsy at the end of the study period. Age of onset (p = 0.216) and neurological status (p = 0.052) were not associated with intractable epilepsy. On logistic regression analysis, evolution of seizure type (p < 0.001; RR 56.45; 95%CI 6.56 to 485.85) and evolution of background EEG rhythm (p < 0.001; RR 56.51; 95%CI 2.77 to 1152.16) were significantly associated with intractable epilepsy. Conclusions: Changes in seizure type and baseline EEG rhythm may predict intractability in children one month to three years of age with focal epilepsy. © 2021 |
Electroencephalography; Focal epilepsy; Intractable; Seizure |
carbamazepine; phenobarbital; valproic acid; anticonvulsive agent; Article; cerebral palsy; child; cohort analysis; electroencephalography; epileptic discharge; focal epilepsy; follow up; human; intractable epilepsy; major clinical study; monotherapy; nuclear magnetic resonance imaging; preschool child; risk factor; focal epilepsy; prospective study; risk factor; Anticonvulsants; Child; Child, Preschool; Cohort Studies; Electroencephalography; Epilepsies, Partial; Humans; Prospective Studies; Risk Factors |
Academic Press Inc. |
15255050 |
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34416519 |
Article |
Q2 |
993 |
4418 |
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418 |
Ariyanto I.A., Lee S., Estiasari R., Edmands J., Bela B., Soebandrio A., Price P. |
57193538110;56272877300;55240204000;57207355582;24723637900;8602893200;57201814264; |
Understanding the effects of CMV on γδ T-cell populations in HIV patients starting antiretroviral therapy |
2021 |
Clinical Immunology |
226 |
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108696 |
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1 |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85103343868&doi=10.1016%2fj.clim.2021.108696&partnerID=40&md5=537b6ce49573252250340726edc3d07d |
Biomedical Science, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Virology and Cancer Pathobiology Research Center, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Department of Microbiology, Pathwest Laboratory Medicine, Perth, Australia; School of Pharmacy & Biomedical Science, Curtin University, Perth, Australia; Department of Neurology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Eijkman Institute for Molecular Biology, Jakarta, Indonesia |
Ariyanto, I.A., Biomedical Science, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia, Virology and Cancer Pathobiology Research Center, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Lee, S., Department of Microbiology, Pathwest Laboratory Medicine, Perth, Australia, School of Pharmacy & Biomedical Science, Curtin University, Perth, Australia; Estiasari, R., Department of Neurology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Edmands, J., School of Pharmacy & Biomedical Science, Curtin University, Perth, Australia; Bela, B., Virology and Cancer Pathobiology Research Center, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Soebandrio, A., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Price, P., Virology and Cancer Pathobiology Research Center, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia, School of Pharmacy & Biomedical Science, Curtin University, Perth, Australia |
Cytomegalovirus (CMV) affects γδ T-cell profiles in healthy individuals and transplant recipients, but the effects of HIV and CMV have not been distinguished in HIV patients. CMV-seropositive Indonesian HIV patients (n = 40) were studied before ART and after six months, alongside healthy controls (n = 20). 50% of patients started ART with detectable CMV DNA. Proportions of Vδ2− γδ T-cells were high in patients and declined on ART, whilst proportions of Vδ2+ γδ T-cells were uniformly low, and correlated inversely with levels of CMV DNA and CMV-reactive antibody. Residual Vδ2+ cells were enriched for markers of terminal differentiation, but this did not associate with CMV metrics. Patients with CMV DNA at baseline showed a direct correlation between CMV reactive-antibody and CD8+ γδ T-cells. Our data are consistent with a role for CMV in the depletion of Vδ2+ γδ T-cells in HIV patients beginning ART, with no consistent evidence of a role for CMV in γδ T-cell activation or differentiation. © 2021 |
Antiretroviral therapy; CMV; HIV; γδ T-cells |
adult; antiretroviral therapy; article; cell population; clinical article; controlled study; Cytomegalovirus; female; gamma delta T lymphocyte; human; human cell; Human immunodeficiency virus infected patient; male; nonhuman; T lymphocyte activation; adolescent; Cytomegalovirus; cytomegalovirus infection; graft recipient; Human immunodeficiency virus infection; immunology; intraepithelial lymphocyte; lymphocyte activation; middle aged; young adult; antiretrovirus agent; lymphocyte antigen receptor; virus antibody; Adolescent; Adult; Anti-Retroviral Agents; Antibodies, Viral; Cytomegalovirus; Cytomegalovirus Infections; Female; HIV Infections; Humans; Intraepithelial Lymphocytes; Lymphocyte Activation; Male; Middle Aged; Receptors, Antigen, T-Cell, gamma-delta; Transplant Recipients; Young |
Academic Press Inc. |
15216616 |
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33621667 |
Article |
Q2 |
1236 |
3138 |
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No records
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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 |
- |
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 |
- |
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 |
- |
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 |
- |
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 |
- |
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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177 |
20880 |
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