1 10 15 https://repository.horizon.ac.id/files/original/33368ef7ac746ddf395d6443b39a65cf.pdf 0283d5967a4bd670c549c49e11c5e98b Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Safety of A 2-Dose Primary Series of 13-Valent Pneumococcal Conjugate Vaccine in Indonesian Infants Subject The topic of the resource adverse effects, conjugate vaccine, Indonesia, infant, pneumococcal vaccines, safety Description An account of the resource BACKGROUND In 2017, the Indonesian Technical Advisory Group on Immunization recommended a safety monitoring demonstration program for the 13-valent pneumococcal conjugate vaccine (PCV13) in West Lombok and East Lombok, West Nusa Tenggara to evaluate the 2-dose primary series (2 and 3 months of age) for serious adverse events (SAEs), adverse events, systemic events, and local reactions. METHODS A total of 1,083 infants from 10 primary healthcare centers were analyzed, with 687 receiving the first dose and 396 receiving the second dose. Based on the national immunization program, they received PCV13 + DTwP-HB-Hib + OPV (n = 544), PCV13 + DTwP-HB-Hib (n = 101), or PCV13 only (n = 403). They were monitored for 30 min after vaccination for any immediate SAEs, and parents were given a diary card to record safety information prospectively for 28 days. RESULTS No immediate SAEs were observed, and no SAEs were reported during 28 days after vaccination. Reports of local reactions and systemic events predominated on days 1–3 post-vaccination. Severe fever (axillary temperature >39.0°C) was uncommon (<2% of all infants). Most irritability was mild to moderate. Local pain was more frequent after the first dose than after the second dose. It was distributed evenly across mild, moderate, and severe classifications, while redness and swelling were mostly mild to moderate. CONCLUSIONS The PCV13 primary series demonstration program in Indonesia confirmed tolerable local and systemic reactions. Creator An entity primarily responsible for making the resource Julitasari Sundoro, Ari Prayitno, Hindra Irawan Satari, I Gusti Gede Djelantik, Mark Andrew Fletcher, Sri Rezeki, Hadinegoro, Syafriyal Date A point or period of time associated with an event in the lifecycle of the resource February 12, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text adverse effects conjugate vaccine Indonesia infant Jurnal Internasional pneumococcal vaccines safety https://repository.horizon.ac.id/files/original/e524c9561477d6afd9d3a092d9eab727.pdf 2da695d183a8d8b1012345a311b18081 Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Interferon-Gamma Release Assay and Chest X-Ray to Classify Intraocular Tuberculosis among Clinically Undifferentiated Uveitis Subject The topic of the resource interferon-gamma release assay, tuberculosis, uveitis, X-ray Description An account of the resource BACKGROUND Tuberculosis (TB) is a common cause of intraocular inflammation in Indonesia. As no accurate biomarker can confirm the diagnosis, ophthalmologists often rely on systemic findings, such as tuberculin skin test, interferon-gamma release assay (IGRA), and chest X-ray (CXR) for TB suspicion. This study aimed to evaluate IGRA and CXR in classifying intraocular TB among patients with a clinically undifferentiated cause of uveitis. METHODS This cross-sectional study included 116 patients (a total of 163 affected eyes) with a clinically undifferentiated cause of uveitis. IGRA and CXR were performed as part of the workup. Data on visual acuity, anterior chamber inflammation grade, and anatomical classification of uveitis were recorded. As there were no confirmed ocular tuberculosis (OTB) in our cases, eyes were classified into probable OTB, possible OTB, and unclassified. RESULTS Overall, 93 patients (80.2%) with a clinically undifferentiated cause of uveitis had positive IGRA, whereas 10 (8.6%) had CXR results suggestive of TB. More than one- third of the patients were blind (visual acuity <3/60), and panuveitis was the commonest anatomical classification. A trend was identified in patients with panuveitis, who often showed ≥2+ cell anterior chamber inflammation (p for trend = 0.023), according to OTB criteria (probable OTB = 3/4, 75.0%; possible OTB = 44/67, 65.7%; unclassified = 2/9, 22.2%). Furthermore, the clinically undifferentiated uveitis cases were eligible to be stratified into probable (8.6%) and possible (75.0%) OTB categories after IGRA and CXR examinations. CONCLUSIONS The combination of IGRA and CXR is valuable for classifying and diagnosing TB-related uveitis. A multidisciplinary approach is essential when the cause of uveitis is unknown. Creator An entity primarily responsible for making the resource Mei Riasanti, Ikhwanuliman Putera, Priscilla Jessica, Muhammad Zakiy Waliyuddin, Faiz Alwan Tagar, Andini Karlina CH, Yulia Aziza, Made Susiyanti, Lukman Edwar, Ratna Sitompul, Rina La Distia Nora Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.oa.226324 Date A point or period of time associated with an event in the lifecycle of the resource October 18, 2022 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text interferon-gamma release assay Jurnal Internasional tuberculosis uveitis X-ray https://repository.horizon.ac.id/files/original/b7d7ce5a39746f20a4146e51c842316e.pdf 27e1e978aca72015ba79986442430a13 Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Subgingival Chlorhexidine Irrigation for Scaling and Root Planing Ajunctive Therapy in Chronic Periodontitis: A Systematic Review Subject The topic of the resource chlorhexidine, periodontitis, root planing, therapeutic irrigation Description An account of the resource BACKGROUND Scaling and root planing (SRP) is a conventional treatment for chronic periodontitis; however, it has limitations in treating deep pockets. To enhance its efficacy, chlorhexidine (CHX) is proposed as adjunctive therapy with SRP due to its broad antimicrobial spectrum, low systemic toxic activity in humans, absence of oral microorganism resistance, and lack of teratogenic effects. This study aimed to know the efficacy of the adjunctive therapy of CHX. METHODS A literature search was conducted using various databases including PubMed, LIVIVO, EBSCOhost, and Google Scholar, following the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines within the last 10 years (2011–2021). Clinical parameters such as plaque index (PI), gingival index (GI), bleeding on probing (BOP), pocket depth (PD), and clinical attachment level (CAL) were recorded. The risk of bias in the selected studies was assessed using Cochrane Collaboration’s Handbook version 5.2.0. RESULTS Of 368 studies, 10 met the inclusion criteria, with 8 of them having a higher quality. Higher reduction of PI, GI, BI, PD, and CAL were observed in SRP with CHX irrigation compared with SRP alone. CONCLUSIONS Overall, adding CHX to SRP appeared to have additional clinical benefits compared with SRP alone in the treatment of chronic periodontitis. Creator An entity primarily responsible for making the resource Agus Susanto, Nunung Rusminah, Yohana Putri Pertiwi Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.rev.236337 Date A point or period of time associated with an event in the lifecycle of the resource March 06, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text chlorhexidine Jurnal Internasional periodontitis root planing therapeutic irrigation https://repository.horizon.ac.id/files/original/d2f5cbe6490207ade2ed20ce6b9e4451.pdf c7401d9d99c182614b62c04061c88b4e Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Surgical Techniques to Reduce Oronasal Fistula Risk in Wide Cleft Palate Repair: A Systematic Review Subject The topic of the resource cleft palate, fistula, surgery, technique Description An account of the resource BACKGROUND Wide cleft palate is a common congenital anomaly, particularly in developing countries with limited access to plastic surgeons and specialized cleft centers. It can be severe and may contribute to the development of oronasal fistula, which can occur in up to 78% of cases. Despite numerous surgical techniques for wide cleft repair, the best method remains unclear. This study aimed to identify surgical techniques for wide cleft palate repair to minimize the occurrence of oronasal fistula. METHODS Literature searching was conducted using multiple online databases including PubMed, Scopus, and Cochrane Library. The keywords used were “cleft palate”, ” surgery”, “technique”, “palatoplasty”, and “wide”. Inclusion and exclusion criteria were applied to select relevant studies, and the quality was assessed. RESULTS A total of 12 studies discussed surgical techniques to repair the primary wide cleft palate and their outcome on oronasal fistula formation. The surgical techniques included modified Furlow palatoplasty, two-flap palatoplasty, and modified Bardach’s two-flap palatoplasty. The incidence of oronasal fistula was 9.6% (n = 28/291) in one- stage Furlow palatoplasty and 12.0% (n = 24/200) in the modified one-stage two-flap palatoplasty. CONCLUSIONS Two-flap palatoplasty and Furlow palatoplasty (and their modifications) were the safe surgical techniques for wide cleft repair with a low occurrence of oronasal fistula. Creator An entity primarily responsible for making the resource Prasetyanugraheni Kreshanti, Patricia Marcellina Sadikin, Margareth Ingrid Anggraeni, Jasmine Athiyya Wibowo, Kristaninta Bangun Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.oa.236347 Date A point or period of time associated with an event in the lifecycle of the resource March 24, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text cleft palate fistula Jurnal Internasional surgery technique https://repository.horizon.ac.id/files/original/d1cffdedd5562bfb119d7301b77bbb7b.pdf 5209c4d4665d4f74ba17edbe28507333 Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Pancreatoblastoma in Previously Pancreatic Pseudocysts in a 14-Year-Old Female: A Case Report Subject The topic of the resource pancreas, pancreatic neoplasm, pancreatic pseudocysts, pancreatoblastoma Description An account of the resource Pancreatoblastoma is a rare tumor characterized by uncontrolled growth of pancreatic epithelial cells with a mix of squamous nests and acinar differentiation. Diagnostic modalities include abnormal liver enzyme, pancreatic enzyme, and imaging findings. Treatment options include surgical resection, sometimes combined with chemotherapy, depending on the tumor’s size and grade. We reported a pancreatoblastoma in a 14-year-old female with prior pancreatic pseudocysts. The transformation from pseudocysts to pancreatoblastoma is believed to be caused by the heterozygosity molecular loss on the 11p chromosome and several genetic mutations. Magnetic resonance cholangiopancreatography showed a well-defined, heterogeneous mass in the pancreatic head, with 70% of the mass composed of cysts. A partial pancreatectomy was performed because a complete pancreatectomy may harm the adjacent structures. However, a complete resection combined with chemoradiation may be the best option for long-term survival and complete remission. In this case, she was disease-free until 30 months after the chemotherapy protocol. Creator An entity primarily responsible for making the resource Monica Bellynda, Marsih, Yohanes Adinugroho, Suwardi, Muhammad Riza, Faizal Muhammad Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.cr.236351 Date A point or period of time associated with an event in the lifecycle of the resource February 13, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text Jurnal Internasional pancreas pancreatic neoplasm pancreatic pseudocysts pancreatoblastoma https://repository.horizon.ac.id/files/original/e22d1047f8f96e18da22ff8e2bb446ac.pdf 98d4118a784ab032a3a67ef5100b20dc Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Evaluation of Anal Cytology and Human Papillomavirus Infection in High-Risk Women: A Cross-Sectional Study Subject The topic of the resource anal neoplasms, cytology, human papillomavirus, Papanicolaou test, uterine cervical neoplasms Description An account of the resource BACKGROUND Anal cancer incidence has been on the rise over the past few decades. This study aimed to assess anal Papanicolaou (Pap) smear changes in women with high risk for dysplasia and human papillomavirus (HPV) infection. METHODS This cross-sectional study was conducted in 121 patients referred to the Gynecology Oncology Clinic of Imam Hossein Medical Center between 2020 and 2021 in Tehran, Iran, who had cervical and vulvar dysplasia, cervical HPV infection, and abnormal cervical cytology results and were over 21 years old. Data analysis was performed using SPSS software version 21 (IBM Corp., USA) at a significance level of 0.05. RESULTS 121 women, with a mean age of 39.69 years, were included in this study. Overall, 23.1% of women had positive anal HPV results, and 35.5% were over 40 years old. Younger age was associated with an increased risk of anal HPV (p = 0.045). 33.9% of women were single and had a higher risk of anal HPV. Multiple sexual partnerships and anal sex were the significant risk factors for anal cancer (p<0.001). Women with positive anal HPV results had significantly more genital warts (p<0.001). No significant difference was observed in smoking, educational level, and cervical Pap smear results between women with negative and positive rectal HPV results. CONCLUSIONS Younger age at diagnosis, being single, multiple sexual partnerships, anal sex, and genital warts were associated with anal HPV infection in women. Abnormal anal cytology was only associated with being single and having multiple sexual partners. Creator An entity primarily responsible for making the resource Tahereh Ashrafganjoei, Maryam Sadat Hosseini, Zanbagh Pirastehfar, Farah Farzaneh, Maliheh Arab, Noushin Afshar Moghaddam, Abdolreza Javadi, Ali Yaghobi Joybari Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.oa.236375 Date A point or period of time associated with an event in the lifecycle of the resource March 10, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text anal neoplasms cytology human papillomavirus Jurnal Internasional Papanicolaou test uterine cervical neoplasms https://repository.horizon.ac.id/files/original/6068e61716b0a57cf71511265d4a7407.pdf 9580b67dcdcfca2cb3c2a3e07018ffd1 Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Risk Factors of Limited Joint Mobility in Type 1 Diabetic Adolescents: A Two-Center Experience in Iraq Subject The topic of the resource diabetic nephropathy, diabetic retinopathy, joints, low-density lipoprotein, type 1 diabetes mellitus Description An account of the resource BACKGROUND Limited joint mobility (LJM) is the most common joint-related complications in patients with diabetes mellitus (DM) and indicates the presence of microvascular complications. This study aimed to assess the frequency of LJM among adolescents with type 1 DM (T1DM), its risk factors, and the other microangiopathies. METHODS In this cross-sectional study, 75 patients (adolescents between 10 and 17 years old) with T1DM were assessed for hand joint mobility using a prayer sign test. It was carried out from January 15 to June 1, 2022 in Baghdad city, Iraq. The patients’ height, body mass index, blood pressure, glycated hemoglobin, and low-density lipoprotein (LDL) were recorded. Only 44 subjects were screened for diabetic nephropathy and 64 for diabetic retinopathy based on the eligibility criteria by the American Diabetes Association guidelines. RESULTS Mean age was 13.60 (1.85) years, with a mean diabetes duration of 5.61 (2.87) years. LJM was found in 18 patients (24%). It was associated with a longer duration of diabetes (p<0.001), high LDL level (p = 0.012), diabetic nephropathy (p = 0.04), and diabetic retinopathy (p<0.001). CONCLUSIONS The proportion of LJM was high among adolescents with T1DM, especially in those with a long duration of DM. It was associated with high LDL levels and diabetic microangiopathies (nephropathy and retinopathy). Creator An entity primarily responsible for making the resource Wasnaa Hadi Abdullah, Rihab Faisal Alabedi, Russul Feihan Mussa Date A point or period of time associated with an event in the lifecycle of the resource February 27, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text diabetic nephropathy diabetic retinopathy joints Jurnal Internasional low-density lipoprotein type 1 diabetes mellitus https://repository.horizon.ac.id/files/original/443bce70acab393bb901f755315342df.pdf 5f31c8f12871965fe69289f375795473 Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Multiple Vaginal Stones Secondary to An Ectopic Ureter in An Adult Female Patient: A Case Report Subject The topic of the resource ectopic ureter, ureteroneocystostomy, vaginal stone Description An account of the resource Vaginal stones are a rare condition that can be misdiagnosed as other diseases.1,2 The overall incidence is unclear because most cases are only reported as case studies. In 1900, Halban was the first to report a case of vaginal stone that developed into a giant vaginal cystocele.1 Vaginal stones can be classified into primary or secondary based on their etiology.2 Primary vaginal stones result from stagnant urine within the vagina, while secondary vaginal stones are caused by a nidus from the deposition of inorganic salts around foreign bodies in the vagina.3 They are commonly caused by congenital genitourinary abnormalities, such as an ectopic ureter, trauma, and urethrovaginal fistula secondary to scarring after gynecologic surgeries.3 Ectopic ureter is often associated with a duplex renal system, which can be classified into a complete and incomplete double system ureter. Ectopic ureter insertion into the vagina can form vaginal stones due to urinary stasis and repeated infection.1,3 In this report, we presented a case of multiple giant vaginal stones due to an ectopic ureter associated with a duplex renal system in an adult female patient. Creator An entity primarily responsible for making the resource Muhammad Adi Satrio Lazuardi, Andrie Rhomdhon Kurniawan, Pradana Nurhadi, Besut Daryanto Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.cr.236388 Date A point or period of time associated with an event in the lifecycle of the resource February 27, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text ectopic ureter Jurnal Internasional ureteroneocystostomy vaginal stone https://repository.horizon.ac.id/files/original/4caef2c1cbfaa7391cd3507893a09738.pdf 0435f256332a9d2b2c9d0de32ef13d6f Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Association between Interleukin-2 (rs2069762) Gene Polymorphism and FVIII Inhibitor Development in Indonesian Patients with Severe Hemophilia A Subject The topic of the resource antibodies, factor VIII, hemophilia A, interleukin-2, single nucleotide polymorphism Description An account of the resource BACKGROUND Factor VIII (FVIII) inhibitors in hemophilia A (HA) patients render FVIII replacement therapy ineffective. Although its development cause is unclear, it has been classified into therapeutic and genetic-related etiologies. Single nucleotide polymorphisms (SNPs) in several cytokine genes, including interleukin (IL)-2, could increase the risk of FVIII inhibitor development. This study aimed to evaluate the association between IL-2 (rs2069762) gene SNP and FVIII inhibitor development in Indonesian patients with severe HA. METHODS The IL-2 (rs2069762) gene SNP was examined in 119 HA patients. The presence of FVIII inhibitors was quantified using an enzyme-linked immunosorbent assay, with a titer of <0.28 ng/ml considered negative. Patients were divided into two groups: 59 with FVIII inhibitors (positive group) and 60 without inhibitors (negative group). The genotype of the subjects was determined using peripheral blood mononuclear cells and tetra-primer amplification refractory mutation system-polymerase chain reaction. RESULTS There was no association between IL-2 (rs2069762) gene polymorphism and FVIII inhibitor development on genotypes (p = 0.138) and allele frequencies (p = 0.780). CONCLUSIONS IL-2 (rs2069762) gene polymorphism is not a risk factor in the development of FVIII inhibitors in Indonesian patients with severe HA. Thus, further polymorphism studies in other cytokine genes are required to gain a comprehensive understanding of the FVIII inhibitor development. Creator An entity primarily responsible for making the resource Sri Marwanta, Faizal Muhammad, Suradi Maryono, Kun Salimah, Sihwidhi Dimas Sudarmadi, Bambang Purwanto, Brian Wasita, Tonang Dwi Ardyanto, Soetrisno Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.oa.236439 Date A point or period of time associated with an event in the lifecycle of the resource February 27, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text antibodies factor VIII hemophilia A interleukin-2 Jurnal Internasional single nucleotide polymorphism https://repository.horizon.ac.id/files/original/7bd23affde253b263062bdfb7937a3f2.pdf b5a3a1145a6f95ba7687c9a75b0e3899 Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Medical Journal of Indonesia Vol. 31 No. 4 2022 FKUI Basic Medical Research Novel Point Mutation and Intronic Mutations of RB1 Gene in Retinoblastoma Patients in Indonesia Subject The topic of the resource germline mutation, RB1 gene, retinoblastoma Description An account of the resource BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aimed to identify the germline mutation in the RB1 gene in patients with RB and their parents from the eastern part of Indonesia. METHODS This observational analytic study recruited patients with RB and their parents between 2016 and 2018 at Dr. Wahidin Sudirohusodo Hospital, Makassar, Indonesia. The normal control subjects were children from the outpatient clinic at the Department of Ophthalmology, Universitas Hasanuddin Hospital. Ophthalmic examinations and peripheral blood tests were performed in RB patients, their parents, and control subjects. Genomic DNA was isolated from blood leukocytes and amplified using conventional PCR. Hotspot exons 8, 10, 14, 17, and 22 were screened for mutations using the Sanger method. RESULTS There were 21 patients with RB (16 unilateral and 5 bilateral) and 14 normal subjects. Of the 184 variations detected in RB patients, 164 were also found in normal subjects. 19 intronic mutations in introns 10, 16, 17, and 21, and 1 novel missense mutation in exon 17 were identified. Parental testing revealed 8 substitutions in exon 17 and 5 intronic mutations in introns 16 and 17 of the parents. None of the variations in exons were passed to their children. Creator An entity primarily responsible for making the resource Batari Todja Umar, Ulfah Rimayanti, Halimah Pagarra, Budu, Nasrum Massi, Habibah Setyawati Muhiddin Source A related resource from which the described resource is derived https://doi.org/10.13181/mji.oa.236544 Date A point or period of time associated with an event in the lifecycle of the resource March 10, 2023 Contributor An entity responsible for making contributions to the resource peri irawan Format The file format, physical medium, or dimensions of the resource pdf Language A language of the resource english Type The nature or genre of the resource text germline mutation Jurnal Internasional RB1 gene retinoblastoma