No records
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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 |
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430 |
Mariati N.M.A.S., Sugiarto A., Endriani E., Lestari R., Anindita K. |
57223228784;57189612291;57222314378;57223220725;57192903786; |
High flow nasal cannula to prevent intubation in obese patient with COVID-19 induced ARDS: a case report |
2021 |
Anaesthesia, Pain and Intensive Care |
25 |
2 |
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212 |
216 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85105281913&doi=10.35975%2fAPIC.V25I2.1473&partnerID=40&md5=2108db369e86e24a12b1ed89d9a0970b |
Department of Anesthesiology & Intensive Care, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Department of Anesthesiology & Intensive Care, Faculty of Medicine, University of Mataram-West Nusa Tenggara General Hospital, Lombok, Indonesia; Pulmonology Department, Faculty of Medicine, University of Mataram-West Nusa Tenggara General Hospital, Lombok, Indonesia; Department of Internal Medicine, Siloam Hospitals Mataram, Jl. Majapahit, Pagesangan, Kec. Mataram, Kota Mataram, Nusa Tenggara Bar, 83115, Indonesia |
Mariati, N.M.A.S., Department of Anesthesiology & Intensive Care, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Sugiarto, A., Department of Anesthesiology & Intensive Care, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Endriani, E., Department of Anesthesiology & Intensive Care, Faculty of Medicine, University of Mataram-West Nusa Tenggara General Hospital, Lombok, Indonesia; Lestari, R., Pulmonology Department, Faculty of Medicine, University of Mataram-West Nusa Tenggara General Hospital, Lombok, Indonesia; Anindita, K., Department of Internal Medicine, Siloam Hospitals Mataram, Jl. Majapahit, Pagesangan, Kec. Mataram, Kota Mataram, Nusa Tenggara Bar, 83115, Indonesia |
Obese patients have been identified to have a poor prognosis and a higher risk of death from coronavirus disease-2019 (COVID-19). We present reports of two obese patients infected with COVID-19 with acute respiratory distress syndrome (ARDS) who showed improvement with high flow nasal cannula (HFNC). HFNC is a noninvasive oxygen delivery device which is capable of delivering a high concentration of oxygen that can reduce the requirement for tracheal intubation. HFNC is convenient to use, can reduce dyspnea without effecting the length of stay in ICU in these cases; and has a high merit to be used in selected patients requiring oxygen before attempting intubation and mechanical ventilation. © the authors. |
ARDS; COVID-19; HFNC; High flow nasal cannula; Obese |
alanine aminotransferase; antiarrhythmic agent; ascorbic acid; aspartate aminotransferase; azithromycin; C reactive protein; chloroquine; dexamethasone; famotidine; heparin; hypertensive factor; levofloxacin; low molecular weight heparin; methylprednisolone; micafungin; oseltamivir; remdesivir; SARS-CoV-2 convalescent plasma; vancomycin; adult; adult respiratory distress syndrome; ageusia; alanine aminotransferase blood level; anosmia; Article; artificial ventilation; aspartate aminotransferase blood level; case report; clinical article; coronavirus disease 2019; coughing; COVID-19 testing; crackle; diarrhea; drug withdrawal; dyspnea; endotracheal intubation; fever; heart arrhythmia; high flow nasal cannula therapy; hospital admission; human; hypotension; hypoxemia; intensive care unit; le |
Faculty of Anaesthesia, Pain and Intensive Care, AFMS |
16078322 |
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Article |
Q3 |
170 |
21404 |
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431 |
Marzuki N.S., Idris F.P., Kartapradja H., Renata S., Harahap A., Latief Batubara J.R. |
37111053300;57224096699;6504373157;57224098534;6507325543;57224097014; |
Accuracy of urinary etiocholanolone/androsterone ratio as alternative to serum testosterone/dihydrotestosterone ratio for diagnosis of 5 alpha-reductase type 2 deficiency patients and carriers in Indonesia |
2021 |
International Journal of Endocrinology and Metabolism |
19 |
2 |
e109510 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85106858176&doi=10.5812%2fIJEM.109510&partnerID=40&md5=262ad88d94d397f7bc55e0ace31050be |
Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia |
Marzuki, N.S., Eijkman Institute for Molecular Biology, Jakarta, Indonesia, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Idris, F.P., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Kartapradja, H., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Renata, S., Eijkman Institute for Molecular Biology, Jakarta, Indonesia; Harahap, A., Eijkman Institute for Molecular Biology, Jakarta, Indonesia, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia; Latief Batubara, J.R., Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia |
Background: The 5 Alpha-reductase type 2 deficiency (5ARD2) is an inherited condition, which clinically presents as variable degrees of under virilization in affected 46,XY individuals. In the diagnostic pathway of 5ARD2, the testosterone/dihydrotestosterone (T/DHT) ratio is broadly employed before molecular analysis of the SRD5A2 gene. However, due to cost-benefit considerations, the DHT test in our country is routinely lacking in clinical settings; therefore, we considered applying the urinary etiocholanolone/androsterone (Et/An) ratio as an alternative test. Objectives: We aimed to determine the diagnostic value of the urinary Et/An ratio versus the T/DHT ratio in diagnosing 5ARD2 patients and carriers. Methods: Sixty-six suspected 5ARD2 46,XY disorders of sex development (DSD) individuals and 95 family members were recruited in the study. Their clinical manifestations, T/DHT and urinary Et/An ratios, and SRD5A2 genes were analyzed. Using molecular analysis of the SRD5A2 gene as the gold standard, we compared the accuracy of both ratios in diagnosing 5ARD2 patients and carriers with receiver operating characteristic (ROC) curve analysis. Results: Thirty-seven patients were confirmed molecularly to have 5ARD2, and the rest (n = 29) were assessed as normal controls, while in the carrier group, 53 were molecularly confirmed as carriers and 42 as controls. The AUCs (areas under the curve) of the T/DHT and urinary Et/An ratios were 57.7% (95% CI 43.0 - 72.4%, P > 0.05) and 79.7% (95% CI 69.0 - 90.4%, P < 0.001), respectively, in diagnosing 5ARD2 patients and 54.1% (95% CI 42.4 - 65.8%, P > 0.05) and 75.1% (95% CI 65.1 - 85.1%, P < 0.001), respectively, in diagnosing carriers. The cutoff value of the urinary Et/An ratio was set at ≥ 0.95 for detecting 5ARD2 patients and ≥ 0.99 for detecting carriers. Conclusions: The testosterone/DHT ratio was inaccurate in diagnosing 5ARD2 patients. When molecular analysis for the SRD5A2 gene is lacking, the urinary Et/An ratio may be a useful test to diagnose 5ARD2 patients and carriers. Copyright © 2021, International Journal of Endocrinology and Metabolism. |
46; 5 Alpha-reductase 2 deficiency; Androsterone; Dihydrotestosterone; Etiocholanolone; SRD5A2; Testosterone; XY DSD |
androstanolone; androsterone; chorionic gonadotropin; etiocholanolone; genomic DNA; steroid; steroid 5alpha reductase 2; testosterone; 5 alpha reductase deficiency; adolescent; adult; analytical parameters; area under the curve; Article; child; clinical article; clinical assessment; clinical feature; competitive ELISA; controlled study; cost benefit analysis; diagnostic accuracy; diagnostic value; disorder of sex development; female; genetic analysis; hormone urine level; human; human tissue; Indonesia; infant; male; molecular biology; neutrophil lymphocyte ratio; newborn; receiver operating characteristic; serum testosterone dihydrotestosterone ratio; testosterone blood level; urinary etiocholanolone androsterone ratio |
Kowsar Medical Institute |
1726913X |
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Article |
Q3 |
652 |
7699 |
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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 |
- |
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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Conference Paper |
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177 |
20880 |
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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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20880 |
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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 |
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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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440 |
Rinaldhy K., Yani A., Tamba R.P. |
57325189500;57215433374;47761736600; |
Papaverine for the prevention of anastomosis leakage after intussusception management in rat model |
2021 |
Surgical Chronicles |
26 |
2 |
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162 |
164 |
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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85118534016&partnerID=40&md5=b67121e208a15e9402e0b83764f168b7 |
Department of Surgery, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jl. Pangeran Diponegoro No. 71, Jakarta, 10430, Indonesia |
Rinaldhy, K., Department of Surgery, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jl. Pangeran Diponegoro No. 71, Jakarta, 10430, Indonesia; Yani, A., Department of Surgery, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jl. Pangeran Diponegoro No. 71, Jakarta, 10430, Indonesia; Tamba, R.P., Department of Surgery, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General Hospital, Jl. Pangeran Diponegoro No. 71, Jakarta, 10430, Indonesia |
Background. The most common complication of surgical management for intussusception is anastomosis leakage. Warm normal saline application, especially on the bowel with a doubtful viability, is thought to cause vasodilation and subsequently reduce the resected bowel requirement. This research compared the effect of topical warm normal saline and papaverine on collagen grading and incidence of anastomosis leakage of the intussusception model in rats. Methods. Ileo-ileal intussusception was created on 21 Sprague-Dawley rats. Groups included control group, normal saline group, and papaverine group. Intussusceptions were then reduced and given topical warm normal saline or papaverine according to each group. Afterward, each bowel was resected, and an end-to-end anastomosis was created. After five days, laparotomy was performed to assess anastomosis leakages. Moreover, a collagen grading assessment was performed on the anastomosis. Results. The papaverine group had the highest collagen grade and no anastomosis leakage. There was no significant association between treatments and the incidence of anastomosis leakage (p=0.174), but treatments were significantly associated with collagen grade (p=0.014). Collagen grade was significantly associated with anastomosis leakage (p=0.01). Conclusion. Findings suggested that the topical application of papaverine is associated with an increase in collagen grading and higher collagen grade is associated with a decrease of anastomosis leakage. © 2021 Surgical Society of Northern Greece. All rights reserved. |
Anastomosis leakage; Collagen; Intussusception; Normal saline; Papaverine. |
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Surgical Society of Northern Greece |
11085002 |
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Article |
Q4 |
102 |
30883 |
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