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404 |
Harbuwono D.S., Sazli B.I., Kurniawan F., Darmowidjojo B., Koesnoe S., Tahapary D.L. |
36056341600;57223390172;57202309006;57210642934;26028015000;55944492500; |
The impact of Ramadan fasting on Fetuin-A level in type 2 diabetes mellitus |
2021 |
Heliyon |
7 |
5 |
e06773 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85105783321&doi=10.1016%2fj.heliyon.2021.e06773&partnerID=40&md5=2dd413b4d090b7268ec8e92f9121b6ce |
Division of Endocrinology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia; Metabolic, Cardiovascular and Aging Cluster, The Indonesian Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, Jakarta 10430, Indonesia; Division of Allergy and Immunology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia |
Harbuwono, D.S., Division of Endocrinology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia, Metabolic, Cardiovascular and Aging Cluster, The Indonesian Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, Jakarta 10430, Indonesia; Sazli, B.I., Division of Endocrinology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia, Metabolic, Cardiovascular and Aging Cluster, The Indonesian Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, Jakarta 10430, Indonesia; Kurniawan, F., Division of Endocrinology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia, Metabolic, Cardiovascular and Aging Cluster, The Indonesian Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, Jakarta 10430, Indonesia; Darmowidjojo, B., Division of Endocrinology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia, Metabolic, Cardiovascular and Aging Cluster, The Indonesian Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, Jakarta 10430, Indonesia; Koesnoe, S., Division of Allergy and Immunology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia; Tahapary, D.L., Division of Endocrinology, Department of Internal Medicine, Dr. Cipto Mangunkusumo National Referral Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, 10430, Indonesia, Metabolic, Cardiovascular and Aging Cluster, The Indonesian Medical Education and Research Institute, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No.71, Central Jakarta, Jakarta 10430, Indonesia |
Background/Aims: Ramadan fasting creates changes in lifestyle, causing biochemical alterations that affect glucose metabolism and insulin sensitivity. This study aims to assess the impact of Ramadan fasting on glycemic control and Fetuin-A, a glycoprotein that affects insulin resistance, in patients with type 2 diabetes mellitus (T2DM). Materials and methods: This was a prospective study done among 37 patients with T2DM from Internal Medicine Polyclinic in a hospital in Jakarta, Indonesia. Anthropometric data as well as Hemoglobin A1c (HbA1c), Fasting Blood Glucose (FBG), and Fetuin-A levels of the subjects were measured in three time points: before, during, and after Ramadan fasting. A bivariate analysis was done to see the effect of Ramadan fasting on those parameters. Results: Ramadan fasting reduced Fetuin-A levels [median (minimum–maximum), 5.35 (2.91–7.81) vs. 3.22 (2.35–5.60) mg/dl; p = 0.039] four weeks after the end of Ramadan compared to pre-Ramadan. After two weeks of Ramadan fasting, we found a significant reduction in body weight, BMI, FBG, and HbA1c levels which rebounded to baseline level after Ramadan. Conclusion: Ramadan fasting was associated with a significant decrease in Fetuin-A level post Ramadan. © 2021 The Authors |
Diabetes mellitus; Fetuin-A; Glycoprotein; Insulin resistance; Ramadan fasting |
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Elsevier Ltd |
24058440 |
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Article |
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455 |
10919 |
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405 |
Sampurna M.T.A., Rohsiswatmo R., Primadi A., Wandita S., Sulistijono E., Bos A.F., Sauer P.J.J., Hulzebos C.V., Dijk P.H. |
57201733407;55533574600;8422152900;57194904658;57218101844;36839156800;57191375642;6603928053;6701798049; |
Corrigendum to “The knowledge of Indonesian pediatric residents on hyperbilirubinemia management” [Heliyon 7 (4) (2021) e06661](S2405844021007647)(10.1016/j.heliyon.2021.e06661) |
2021 |
Heliyon |
7 |
5 |
e07007 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85105737450&doi=10.1016%2fj.heliyon.2021.e07007&partnerID=40&md5=f1c3a5a39332f7f89a1e521e66c2589f |
Neonatology Division, Department of Pediatrics, Airlangga University Teaching Hospital, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Neonatology Division, Department of Pediatrics, Cipto Mangunkusumo Hospital, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Department of Pediatrics, Hasan Sadikin Hospital, Faculty of Medicine, Universitas Padjajaran, Bandung, Indonesia; Neonatology Division, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia; Department of Pediatrics, Saiful Anwar Hospital, Faculty of Medicine, Universitas Brawijaya, Malang, Indonesia; Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands |
Sampurna, M.T.A., Neonatology Division, Department of Pediatrics, Airlangga University Teaching Hospital, Faculty of Medicine, Universitas Airlangga, Surabaya, Indonesia; Rohsiswatmo, R., Neonatology Division, Department of Pediatrics, Cipto Mangunkusumo Hospital, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Primadi, A., Department of Pediatrics, Hasan Sadikin Hospital, Faculty of Medicine, Universitas Padjajaran, Bandung, Indonesia; Wandita, S., Neonatology Division, Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia; Sulistijono, E., Department of Pediatrics, Saiful Anwar Hospital, Faculty of Medicine, Universitas Brawijaya, Malang, Indonesia; Bos, A.F., Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Sauer, P.J.J., Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Hulzebos, C.V., Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Dijk, P.H., Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands |
In the original published version of this article, the authors provided the incorrect institutional review board number, 1060/KEPK/III/2019. This has now been corrected to 390/Panke.KKE/V/2017. The authors apologise for this mistake. Both the HTML and PDF versions of the article have been updated to correct the error. © 2021 The Author(s) |
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Elsevier Ltd |
24058440 |
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428 |
Soetisna T.W. |
57214887740; |
A new hope of cd133+ bone marrow stem cell for functional exercise capacity improvement in low ejection fraction coronary artery bypass graft patients: A clinical trial |
2021 |
Bali Medical Journal |
10 |
1 |
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229 |
233 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85106002523&doi=10.15562%2fbmj.v10i1.2255&partnerID=40&md5=80046a217774aa6ef82836d9a524c4ff |
Department of Cardiothoracic and Vascular Surgery, National Cardiovascular Center Harapan Kita, Jakarta, Indonesia; Department of Surgery, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia |
Soetisna, T.W., Department of Cardiothoracic and Vascular Surgery, National Cardiovascular Center Harapan Kita, Jakarta, Indonesia, Department of Surgery, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia |
Background: Patients with low ejection fraction who are undergoing coronary artery bypass graft (CABG) only have an insignificant improvement in ejection fraction. This condition will make a little hope to achieve an improvement in physical performance. But now, from a view study, CD133+ stem cells offer new hope for this situation. This study evaluates CD133+ bone marrow stem cells’ role for functional exercise capacity improvement in low ejection fraction coronary artery bypass graft patients. Methods: Thirty patients with ischemic heart disease who had ejection fraction<35% at the National Cardiovascular Center were randomized into 2 groups. The treatment group undergoes the CABG + CD133+ procedure and the control group undergoes the CABG only. All research subjects underwent follow-up before and 6 months after the procedure. Fraction ejection, scar size, wall motion score index, ventricular dimensions, myocardial perfusion measured by cardiac MRI, 6 Minutes Walking Test (6MWT) and Minnesota Living with Heart Failure Questionnaire (MLHFQ) as an additional parameter for physical performance and quality of life. Data was analyzed using SPSS version 21 for Windows. Results: The results of the fraction ejection parameters showed a significant improvement in the treatment group, from 25.88±5.66% to 34.57%±11.31% compared to CABG only 30.18±3.85% to 31.61±7.89% (p=0.040), in the perfusion defect showed improvement but not significant, left ventricular end-systolic volume and left ventricular end-diastolic volume showed improvement with no significant result, scar size was found to be an improvement in the treatment group 10 persons (76.92%) compared to the control group 5 persons (38, 46%) (p=0.040), the wall motion score index and 6MWT showed a significant improvement in the treatment group (p=0.003 and p=0.03, respectively). The MLHFQ parameter showed improvement but not significant. Conclusion: CD 133+ stem cell implantation in patients with low ejection fraction who undergo CABG provides improved myocardial function and indirectly improves functional exercise capacity and patients’ quality of life. © 2021, Sanglah General Hospital. All rights reserved. |
CABG; CD133+ Stem cell; Functional exercise capacity |
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Sanglah General Hospital |
20891180 |
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Article |
#N/A |
#N/A |
#N/A |
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429 |
Ocviyanti D., Putri R.A. |
57189661230;57226166006; |
Biopsychosocial aspect of pregnant women suspected brainstem death [Aspek Biopsikososial pada Perempuan Hamil dengan Kecurigaan Mati Batang Otak] |
2021 |
Indonesian Journal of Obstetrics and Gynecology |
9 |
2 |
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107 |
110 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85115419653&doi=10.32771%2finajog.v9i2.1269&partnerID=40&md5=41a14ffbc68b4ced0cd44396ae92afad |
Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia |
Ocviyanti, D., Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia; Putri, R.A., Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia |
Objective: Diagnosis of brainstem death and the vital organ function support in the pregnant woman to prolong gestation to attain fetal viability is still controversial. The decision is influenced by ethical and legal issue in the country. Another consideration is the hospital cost and health insurance coverage. This article purpose is to report a case and discuss the biopsychosocial aspect of this issue, so the doctors know how to decide a similar case. Methods: We reported a suspected brainstem death in pregnant women and discussed the holistic approach. Case: This case is a-38-year-old women, third pregnancy, 22 weeks of gestation, referred from the secondary hospital in a comatose condition. She was diagnosed with brainstem dysfunction due to intracranial mass and cerebral oedema. She wasn't diagnosed with brainstem death due to the electrolyte imbalance that can cause this condition. We did the multidisciplinary management approach. We decided the termination of pregnancy would only be performed if the fetus reaches 28 weeks of gestational age (with survival rate on perinatology is 31%). From the husband point of view, since the attending doctors have not declared the mother to be dead, then the husband still want to keep the mother in full life support. The patient and the fetus died on the 8th day of hospitalization. The patient was fully paid for by Indonesian Health Insurance. Conclusions: Maternal brainstem dysfunction and brainstem death during pregnancy are rare. In Indonesia, ethical and legal consideration to keep both mother and fetus are appropriate with the general social, cultural, and religious values. However, we recommend managing every single case individually with an intensive multidisciplinary approach due to the possibility of the different personal value of the patient. © Creative Commons Atribuição-Não Comercial 4.0 Internacional |
Brain death; Brainstem dysfunction; Ethic; Fetal; Legal; Pregnancy |
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Indonesian Society of Obstetrics and Gynecology |
23386401 |
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Article |
#N/A |
#N/A |
#N/A |
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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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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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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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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. |
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438 |
Hadi I.A.N., Ekaputri M., Baskoro J.C., Winarsih N.S. |
57345259600;57242005600;57242005500;57211183552; |
Association between duration of untreated psychosis and executive function in early-onset psychosis |
2021 |
Journal of Affective Disorders Reports |
4 |
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100068 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85125606448&doi=10.1016%2fj.jadr.2020.100068&partnerID=40&md5=fa88cf50f43a9cc6eaaa94d1676fa411 |
Medical Doctor Graduate, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia; Department of Psychiatry Faculty of Medicine Universitas Indonesia, Cipto Mangunkusumo Hopsital, Jakarta, Indonesia |
Hadi, I.A.N., Medical Doctor Graduate, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia; Ekaputri, M., Medical Doctor Graduate, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia; Baskoro, J.C., Medical Doctor Graduate, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia; Winarsih, N.S., Department of Psychiatry Faculty of Medicine Universitas Indonesia, Cipto Mangunkusumo Hopsital, Jakarta, Indonesia |
Introduction: Psychosis is a severe mental illness that causes impaired executive function (EF). The prolonged duration of untreated psychosis (DUP) is one of the negative factors in the course of psychosis. However, the results of previous studies remain inconsistent. The aim of this study is to find out the association between DUP and all the components of EF, i.e. behavioral regulation and metacognition with all their subdomains. Method: This was a cross-sectional study involving patients with early onset-psychosis aged 5–18 years old. DUP were collected from medical records, whereas sociodemographic data were collected by interview and EF was measured using the Behavior Rating Inventory of Executive Function-Parent Indonesian Version questionnaire. Results: Total 50 subjects were included in the study. The median age of subjects was 15.9 ± 1.9 years old with schizophrenia as majority of diagnosis (58%). Median DUP was 2 (0; 84) months. Subjects were divided into short DUP (≤2 months) and long DUP (>2 months) group. A significant association was found between long DUP (>2 months) and higher Global Executive Composite (GEC) score indicating poorer function, which consisted of Behavioral Regulation Index (BRI) and Metacognition Index (MI) (p = 0.001, p = 0.007, p = 0.001, respectively). All subdomains of BRI and MI, except material organization, showed significant associations with DUP. Conclusion: There was a significant association between long DUP (>2 months) and poorer EF in early-onset psychosis. © 2021 The Author(s) |
Behavioral regulation; Duration of untreated psychosis; Early-onset psychosis; Executive function; Metacognition |
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Elsevier B.V. |
26669153 |
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Article |
#N/A |
#N/A |
#N/A |
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439 |
Restuti R., Sriyana A., Priyono H., Saleh R. |
55261428300;57203022550;57201550021;57391850200; |
Postauricular Cutaneous Mastoid Fistula Closure with Combination of Bilobed Flap and Fibro-Muscular-Periosteal Flap: A Case Series |
2021 |
Indian Journal of Otology |
27 |
2 |
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116 |
119 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85122022487&doi=10.4103%2findianjotol.indianjotol_10_21&partnerID=40&md5=dfd65407309ade3f15f32833b03bb0ef |
Department of Ear, Nose, Throat, Head and Neck Surgery, Dr. Cipto Mangunkusumo General Hospital, Faculty of Medicine University of Indonesia, Jakarta, Indonesia |
Restuti, R., Department of Ear, Nose, Throat, Head and Neck Surgery, Dr. Cipto Mangunkusumo General Hospital, Faculty of Medicine University of Indonesia, Jakarta, Indonesia; Sriyana, A., Department of Ear, Nose, Throat, Head and Neck Surgery, Dr. Cipto Mangunkusumo General Hospital, Faculty of Medicine University of Indonesia, Jakarta, Indonesia; Priyono, H., Department of Ear, Nose, Throat, Head and Neck Surgery, Dr. Cipto Mangunkusumo General Hospital, Faculty of Medicine University of Indonesia, Jakarta, Indonesia; Saleh, R., Department of Ear, Nose, Throat, Head and Neck Surgery, Dr. Cipto Mangunkusumo General Hospital, Faculty of Medicine University of Indonesia, Jakarta, Indonesia |
Chronic suppurative otitis media (CSOM) with cholesteatoma can present with intratemporal complications such as postauricular subperiosteal abscess with or without fistula. In some postauricular cutaneous mastoid fistula cases, direct closure of the wound is not possible due to skin tension, leading to skin necrosis and postoperative recurrent cutaneous fistula. Here, we describe a surgical technique using a combination of a bilobed flap and a fibro-muscular-periosteal flap for fistula closure on a 31-year-old and a 35-year-old female with postauricular cutaneous mastoid fistula due to CSOM. All patients were successfully managed with no fistula recurrence. © 2021 Wolters Kluwer Medknow Publications. All rights reserved. |
Bilobed flap; cholesteatoma; chronic suppurative otitis media; postauricular cutaneous mastoid fistula |
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Wolters Kluwer Medknow Publications |
09717749 |
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Article |
Q4 |
174 |
21127 |
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