Hasil Pencarian  ::  Simpan CSV :: Kembali

Hasil Pencarian

Ditemukan 18 dokumen yang sesuai dengan query
cover
Enny Nugraheni Sulistyorini
Abstrak :
Latar Belakang : Indonesia adalah daerah endemik penyebaran virus dengue (DENV), demam tifoid, malaria, leptospirosis dan arbovirus lain. Sehingga terjadinya infeksi yang bersamaan sangat mungkin terjadi. Koinfeksi Salmonella typhi yang terjadi dapat menyebabkan manifestasi yang lebih berat, atau menyebabkan diagnosis yang salah atau tertunda. Tujuan penelitian ini adalah untuk menganalisis kejadian koinfeksi Salmonella typhi di Bengkulu dan juga melihat bagaimana peran respon imun dalam proses imunopatogenesis pada berbagai tingkat keparahan. Metode: Subjek penelitian ini adalah usia 16-60 tahun yang memiliki gejala demam kurang atau sama dengan 3 hari dan memiliki 2 gejala minimal dari kriteria WHO 1997. Infeksi DENV dikonfirmasi dengan pemeriksaan antigen NS1 dan serotipe dengan Reverse Transcriptase-PCR (RT-PCR). Keparahan penyakit DENV diklasifikasikan menjadi Demam Dengue (DD) dan Demam Berdarah Dengue (DBD). Tubex TF digunakan untuk menegakkan diagnosis infeksi Salmonella typhi. Pemeriksaan TNF-α, IL-6, TLR-4 dan TLR-6 dilakukan dengan metode ELISA. Penentuan Genotipe DENV pada penelitian ini dilakukan pada gen-E menggunakan software Mega dan Bioedit. Hasil: Subjek yang memenuhi kriteria penelitian sebanyak 63 orang dan DENV-2 merupakan serotipe dominan. Kasus monoinfeksi dan koinfeksi sebanyak 24 subjek dan 39 subjek secara berurutan. Kadar IL-6, TLR-4 dan TLR-6 pada kelompok monoinfeksi dan koinfeksi menunjukkan perbedaan yang bermakna. Sedangkan berdasarkan kelompok DD dan DBD, kadar TNF-α dan IL-6 terdapat perbedaan yang bermakna. Analisis genotiping menunjukkan DENV-1 masuk dalam genotipe-I, DENV-2 masuk dalam genotipe cosmopolitan, sedangkan DENV-3 masuk dalam genotipe-I dan DENV-4 termasuk dalam genotipe-II. Kesimpulan: Koinfeksi dapat menyebabkan peningkatan IL-6, TLR-4 dan TLR-6 plasma, sedangkan jika dilihat dari keparahan penyakit TNF-α dan IL-6 mengindikasikan derajat keparahan penyakit yang lebih berat. Genotipe DENV dalam penelitian ini sama dengan genotype yang beredar di tempat lain di Indonesia. ......Background: Indonesia is an endemic area of dengue virus (DENV), typhoid, malaria, leptospirosis and other arboviruses. Therefore, the possibility of coinfection in DENV patients can occur. Co-infections may lead to severe manifestations, missed or delayed diagnosis and treatment of DENV infection. The aim of this study is to define incidence of coinfection in DENV patients with Salmonella typhi in Bengkulu, Sumatera, Indonesia 2020. In addition, we also evaluated characteristics of immune responses in coinfection DENV patients with different disease severities. Method: Adult subjects more than 16 years old with fever and other clinical symptoms of DENV less than 3 days were included in this study. DENV infection was confirmed by NS1 antigen test and RT-PCR. DENV disease severity was classified into DD and DHF based on hematocrite value. Tubex TF were conducted to confirm Salmonella typhi infection in the convalescent phase. The examination of TNF-α, IL-6, TLR-4, and TLR-6 was performed by ELISA method. xty-three subjects met the study criteria and DENV-2 was the most dominant serotype. Monoinfection and coinfection cases were found in 24 subjects and 39 subjects respectively. The levels of IL-6, TLR-4, and TLR-6 in the monoinfected and coinfected groups showed significant differences. Meanwhile, based on the DF and DHF groups, there were significant differences in the levels of TNF-α and IL-6. Conclusion: Coinfection caused an increasing in plasma IL-6, TLR-4, and TLR-6, whereas TNF-α and IL-6 caused more severe disease in DENV patients.
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2022
D-pdf
UI - Disertasi Membership  Universitas Indonesia Library
cover
Duangnate Pipatsatitpong
Abstrak :
ABSTRAK
Giardia duodenalis (G. duodenalis) is an intestinal flagellate protozoan, which infects in humans and animals. It can be causing giardiasis. The symptoms are acute or chronic diarrhea, abdominal pain, weight loss and dehydration. G. duodenalis can be transmitted by eating food or drinking water contaminated with infected stage cysts. Children who live and share facility in an orphanage are the high risk groups for infection. The objective of this paper is to study the prevalence and genotypes of G. duodenalis infection of asymptomatic individual in a child care center. This study was conducted in Mercy Centre orphanage, Klong Toey community. 289 stool samples were collected from children and childcare workers. Stool samples were extracted DNA. Small subunit ribosomal DNA (SSU-rDNA) and glutamate dehydrogenase (gdh) genes were amplified using Nested PCR. PCR products of gdh gene were cut using NlaIV and RsaI restriction enzymes. Genotypes were identified. The results of this study showed the prevalence of giardiasis in an orphanage, Klong Toey community, Thailand was 17.6% (51/289). PCR-RFLP analysis of 19 samples revealed that genotype AII was 63.2% (12/19), genotype BIV was 31.6% (6/19) and genotype BIII was 5.3% (1/19) respectively. Consequently, the study of prevalence and genotypes of G. duodenalis is beneficial for control planning of giardiasis in an orphanage, Klong Toey community.
Pathum Thani: Thammasat University, 2018
607 STA 23:3 (2018)
Artikel Jurnal  Universitas Indonesia Library
cover
Robiatul Adawiyah
Abstrak :
Latar Belakang: Kriptokokosis meningeal merupakan infeksi oportunistik yang muncul pada penderita terinfeksi HIV di Indonesia. Penyebab utama kriptokokosis adalah Cryptococcus neoformans. Laporan terkait karakteristik klinis, mikologis dan laboratorium klinis pada pasien AIDS dengan kriptokokosis meningeal belum ada di Indonesia. Tujuan: Mengetahui karakteristik klinis, mikologis dan laboratoris pasien AIDS dengan kriptokokosis meningeal di Jakarta. Metode: Penelitian deskripsi retrospektif dengan desain potong lintang ini dilakukan di RSCM dan RSKO untuk data klinisnya dan pemeriksaan laboratoriumnya dilakukan di laboratorium departemen Parasitologi FKUI dan Westerdijk Fungal Biodiversity Institute, Utrecht, the Netherlands. Hasil: Gejala klinis utama adalah sakit kepala. Pasien yang hidup lebih banyak dari yang meninggal di RS. Isolat Cryptococcus sp. seluruhnya memproduksi melanin, membentuk empat fenotipe koloni, memiliki dua jenis mating-type dan empat genotipe (AFLP1, AFLP1 A, AFLP2 dan AFLP3). Terdapat infeksi campur mating-type dan genotipe pada satu pasien. Hitung CD4 mayoritas rendah. Diskusi: Mating-type terbanyak adalah α- α karena lebih virulens. Genotipe yang ditemukan sesuai laporan di dunia. Infeksi campur mating-type dan genotipe diduga karena jamur yang menginfeksi memiliki mating-type dan genotipe yang berbeda. Kesimpulan: Sakit kepala merupakan gejala klinis terbanyak. Genotipe terbanyak adalah AFLP1. Terdapat infeksi campur mating-type dan genotipe pada satu pasien. ......Background: Meningeal cryptococcosis is an opportunistic infection in HIV-infected patients. The main cause of cryptococcosis is Cryptococcus neoformans. Reports related to clinical, Mycological and laboratory characteristics in AIDS patients with meningeal cryptococcosis do not yet exist in Indonesia. Objective: To determine the clinical, Mycological and laboratory characteristics of AIDS patients with meningeal cryptococcosis in Jakarta. Methods: This retrospective description study with cross-sectional design was conducted at RSCM and RSKO for clinical data and laboratory tests were carried out in the laboratory of the department of Parasitology FKUI and Westerdijk Fungal Biodiversity Institute, Utrecht, the Netherlands. Results: The main symptom is headache. Patients live more than those who died in the hospital. All isolates of Cryptococcus sp. produce melanin, forming four colony phenotypes, having two types of mating-type and four genotypes (AFLP1, AFLP1 A, AFLP2 and AFLP3). There were a mixed mating-type and genotype infection in one patient. Discussion: Most mating-types are α- α because they are more virulent. Genotype found is the same with reported in the world. The mixed mating-type and the genotype because suspected infecting fungi have different mating-types and genotypes. Conclusion: Headache is the most symptom. Most genotypes are AFLP1. There was a mixed mating-type and genotype infection in one patient.
Depok: Fakultas Kedokteran Universitas Indonesia, 2019
T57643
UI - Tesis Membership  Universitas Indonesia Library
cover
Jonathan Raharjo Subekti
Abstrak :
ABSTRAK
Latar belakang. Infeksi human papillomavirus (HPV) pada genital laki-laki selain dapat menyebabkan kutil kelamin dan kanker penis juga meningkatkan risiko infeksi HPV pada pasangan. Walaupun saat ini telah terdapat banyak penelitian mengenai peran HPV risiko tinggi terhadap karsinogenesis serviks dan semakin jelas peran laki-laki sebagai vektor virus HPV, namun pemeriksaan HPV pada laki-laki belum rutin dilakukan. Penelitian ini bertujuan mengetahui proporsi kepositivan, variasi genotipe HPV pada suami pasien kanker serviks serta kesamaan genotipe HPV antara suami pasien kanker serviks yang HPV positif dengan pasien kanker serviks di RSUPN Dr Cipto Mangunkusumo. Metode. Penelitian potong lintang. Pemilihan SP dilakukan secara berurutan (consecutive sampling). Sampel diambil dengan menggunakan kertas amplas dan dacron swab. Pada spesimen dilakukan pemeriksaan menggunakan HPV express matrix Kalgen®. Hasil. Sebanyak 47 SP dilibatkan dalam penelitian ini, dengan rerata usia 50,7+10,6 tahun. Dari analisis spesimen diidentifikasi HPV genital pada 9 (19%) SP, terdiri atas genotipe risiko rendah (3 SP) dan risiko tinggi (6 SP). Genotipe HPV yang ditemukan adalah 6, 18, 31, 39, 43, 53, dan 56, dengan tipe tersering adalah 18 dan 43. Tidak didapatkan kesamaan tipe HPV di antara pasangan HPV yang positif. Kesimpulan. Proporsi kepositivan HPV pada suami pasien kanker serviks sebesar 19% dengan tipe 18 dan 43 paling banyak didapatkan, namun tidak didapatkan kesamaan tipe HPV antara SP dengan pasien kanker serviks pasangannya.ABSTRACT
Background. Human papillomavirus (HPV) infection on male genital could cause genital warts, penile cancer, but also increase the risk of HPV infection in their spouse. Despite many current researches on role of high-risk HPV in cervix carcinogenesis and male partner?s role as HPV vector is well known, HPV examination on male is not yet routinely performed. The aim of this study is to find the positivity proportion and genotype variant of HPV on cervical cancer patient?s spouse, and also the genotype concordance between the spouse with HPV positive and the cervical cancer patient at dr Cipto Mangunkusumo hospital. Method. Cross-sectional design. Subject was chosen consecutively (consecutive sampling). Sample was collected with emery paper and dacron swab. The specimen was then analyzed with HPV express matrix Kalgen®. Result. Fourty seven subject enrolled in this studi with mean age 50,7+10,6 y.o. Specimen analysis identified genital HPV on 9 (19%) subject, with low risk (3 subject) and high risk (6 subject) genotype. HPV genotypes found in this study are 6, 18, 31, 39, 43, 53, dan 56, with 18 and 43 as the most frequent. No genotype concordance found between the cervical cancer patient?s spouse with HPV positive and their partners. HPV genotypes variation found on cervical cancer?s spouses are type 6, 18, 31, 39, 43, 53, dan 56. Conclusion. The positivity proportion of HPV on cervical cancer patient?s spouse was 19%, with genotype 18 and 43 as the most frequent with no HPV genotype concordance found between subjects and the spouse.;Background. Human papillomavirus (HPV) infection on male genital could cause genital warts, penile cancer, but also increase the risk of HPV infection in their spouse. Despite many current researches on role of high-risk HPV in cervix carcinogenesis and male partner?s role as HPV vector is well known, HPV examination on male is not yet routinely performed. The aim of this study is to find the positivity proportion and genotype variant of HPV on cervical cancer patient?s spouse, and also the genotype concordance between the spouse with HPV positive and the cervical cancer patient at dr Cipto Mangunkusumo hospital. Method. Cross-sectional design. Subject was chosen consecutively (consecutive sampling). Sample was collected with emery paper and dacron swab. The specimen was then analyzed with HPV express matrix Kalgen®. Result. Fourty seven subject enrolled in this studi with mean age 50,7+10,6 y.o. Specimen analysis identified genital HPV on 9 (19%) subject, with low risk (3 subject) and high risk (6 subject) genotype. HPV genotypes found in this study are 6, 18, 31, 39, 43, 53, dan 56, with 18 and 43 as the most frequent. No genotype concordance found between the cervical cancer patient?s spouse with HPV positive and their partners. HPV genotypes variation found on cervical cancer?s spouses are type 6, 18, 31, 39, 43, 53, dan 56. Conclusion. The positivity proportion of HPV on cervical cancer patient?s spouse was 19%, with genotype 18 and 43 as the most frequent with no HPV genotype concordance found between subjects and the spouse.;Background. Human papillomavirus (HPV) infection on male genital could cause genital warts, penile cancer, but also increase the risk of HPV infection in their spouse. Despite many current researches on role of high-risk HPV in cervix carcinogenesis and male partner?s role as HPV vector is well known, HPV examination on male is not yet routinely performed. The aim of this study is to find the positivity proportion and genotype variant of HPV on cervical cancer patient?s spouse, and also the genotype concordance between the spouse with HPV positive and the cervical cancer patient at dr Cipto Mangunkusumo hospital. Method. Cross-sectional design. Subject was chosen consecutively (consecutive sampling). Sample was collected with emery paper and dacron swab. The specimen was then analyzed with HPV express matrix Kalgen®. Result. Fourty seven subject enrolled in this studi with mean age 50,7+10,6 y.o. Specimen analysis identified genital HPV on 9 (19%) subject, with low risk (3 subject) and high risk (6 subject) genotype. HPV genotypes found in this study are 6, 18, 31, 39, 43, 53, dan 56, with 18 and 43 as the most frequent. No genotype concordance found between the cervical cancer patient?s spouse with HPV positive and their partners. HPV genotypes variation found on cervical cancer?s spouses are type 6, 18, 31, 39, 43, 53, dan 56. Conclusion. The positivity proportion of HPV on cervical cancer patient?s spouse was 19%, with genotype 18 and 43 as the most frequent with no HPV genotype concordance found between subjects and the spouse.
Fakultas Kedokteran Universitas Indonesia, 2016
SP-PDF
UI - Tugas Akhir  Universitas Indonesia Library
cover
cover
Abstrak :
Genotipe virus hepatitis B (VHB) mempunyai hubungan yang erat dengan prognosis dan terapinya serta diperlukan untuk studi epidemiologi. Pemeriksaan ini hanya bisa dikerjakan di kota-kota besar saja karena kesulitan pengiriman sampel akibat masalah geografis maupun fasilitas. Tujuan penelitian ini adalah untuk mengetahui apakah genotipe VHB dapat ditentukan dari serum kering pada kertas saring dan membandingkan hasil tersebut dengan serum yang diambil langsung dari pasien hepatitis B kronik (HBK) dan hepatoma. Dua puluh tiga sampel dapat diambil dari pasien HBK dan konsentrasi DNA VHB di tentukan dengan Cobas Amplicor HBM (Roche Diagnostics GmBH, Germany) kemudian diteteskan pada kertas saring (3 x 1 cm). Setelah dikeringkan dalam kantong plastik, diletakkan dalam amplop tertutup dan disimpan selama 1 minggu dalam suhu kamar (27 – 33 oC). Ekstraksi DNA dilakukan dari kertas saring tersebut setelah diinkubasi dan penentuan genotipe VHB dilakukan dengan PCR menggunakan primer-primer spesifik. Untuk perbandingan, telah didapatkan 20 sampel pasien HBK-HBe (+) dan 29 sampel pasien hepatoma yang tidak dikeringkan. Genotipe VHB dapat dideteksi pada 18/23 (78,2%) serum kering pada kertas saring sedangkan pada serum yang tidak dikeringkan, dari pasien HBK-HBe(+) 20/20 (100%) sampel terdeteksi dan dari pasien hepatoma 24/29 (82,7%) sampel. Proporsi genotipe yang terdeteksi sesuai dengan proporsi genotipe yang pernah dilaporkan di Indonesia. Kesimpulan penelitian ini adalah genotipe VHB dapat dideteksi dari serum kering pada kertas saring yang disimpan selama 1 minggu. (Med J Indones 2005; 14: 215-9)
HBV genotype has a close association with prognosis and therapy as well as for epidemiology study. However, this examination can be done only in large cities that are not practical to send serum sample due to geographical burden and facilities. The aim of this study is to know whether HBV genotype can be determined from dried and stored serum on filter paper and compare the result with sera drawn directly from chronic hepatitis B (CHB) and hepatoma patients. Twenty-three serum samples were obtained from CHB patients. HBV DNA were quantitatively determined with Cobas Amplicor HBM (Roche Diagnostics GmBH, Germany) and dropped on to 3 x 1 cm filter papers. After allowed to dry in a plastic clip, it were put in a closed envelope then stored for 1 week in room condition (27 – 33 oC). DNA extraction were done from the filter papers after a short incubation period and HBV genotypes were determined with PCR and specific primers. For comparison, 20 CHB-Hbe(+) samples and 29 hepatoma samples were drawn directly and not dried. HBV genotype were detected in 18/23 (78.2%) from dried serum samples on filter paper while in sera that were not stored, from CHB-HBe(+) samples, 20/20 (100%) could be determined while from hepatoma patients, 24/29 (82.7%) samples. The proportion of genotype were in line with other reported HBV genotype examination for Indonesia. It is concluded that detection of HBV genotype can be done from dried serum in filter paper and stored for 1 week. (Med J Indones 2005; 14: 215-9)
Medical Journal Of Indonesia, 14 (4) October December 2005: 215-219, 2005
MJIN-14-4-OctDec2005-215
Artikel Jurnal  Universitas Indonesia Library
cover
Cut Nurul Hafifah
Abstrak :
Latar Belakang: Mukopolisakaridosis tipe IV A (MPS IV A, Morquio A syndrome) merupakan kelainan autosomal resesif yang disebabkan adanya mutasi pada gen N-acetylgalactosamine-sulfate sulfatase (GALNS atau galactosamine (N-acetyl)-6-sulfate sulfatase; MIM #612222). Diagnosis MPS IV A dapat dicurigai melalui pemeriksaan penapisan GAGs (glukosaminogikans) urin dan ditegakkan dengan pemeriksaan dan aktifitas enzim GALNS pada leukosit atau kultur fibroblast. Pemeriksaan molekuler diperlukan karena bervariasinya gejala klinis yang berhubungan dengan variasi mutasi pada gen GALNS. Namun, lokasi mutasi hot spot berbeda-beda antar daerah dan etnis, Heterogenitas ini dapat menjadi tantangan bagi interpretasi pemeriksaan molekular pasien dengan MPS IV sehingga perlu strategi diagnostik yang efektif biaya untuk menemukan mutasi penyebab kelainan MPS tipe IVA di Indonesia. Tujuan: Mengetahui profil fenotipe-genotipe pasien MPS tipe IV A di Indonesia. Metode: Penelitian ini adalah studi potong lintang yang dilakukan di Departemen Ilmu Kesehatan Anak RSCM-FKUI dan Human Genetic Cluster (HGRC) IMERI FKUI sejak tanggal 1 Januari-13 Desember 2019. 3. Data terkait fenotipe, yaitu anamnesis, pemeriksaan fisis (PF), dan pemeriksaan penunjang, diambil dari data rekam medis. Selanjutnya dilakukan pengambilan darah dalam tabung EDTA sebanyak 5 mL. Tahapan pemeriksaan molekular meliputi isolasi DNA, desain primer, PCR, sequencing, dan analisis varian. Kategori varian baru (novel) yang ditemukan akan dibuat berdasarkan panduan dari American College of Medical Genetics and Genomics (ACMG). Hasil: Total subjek penelitian adalah 7 pasien MPS tipe IV A di Indonesia yang berasal dari 5 kota berbeda. Subjek terdiri dari 2 pasien lelaki dan 5 pasien perempuan. Rentang usia saat pemeriksaan antara 2-17 tahun. Terdapat riwayat keluhan serupa pada kakak subjek 1 dan 6. Pada kelima pasien lain, awitan gejala mukopolisakaridosis disadari pada usia antara 2-3 tahun. Tidak ada riwayat konsanguinitas pada orangtua subjek penelitian. Seluruh subjek pada penelitian ini diklasifikasikan sebagai tipe berat. Manifestasi klinis yang ditemukan pada seluruh subjek penelitian adalah leher pendek, genu valgum, pectus carinatum, sendi yang longgar, serta gangguan pada cara berjalan. Tiga dari 7 subjek saat ini masih dapat berjalan tanpa alat bantu. Data aktivitas enzim dan glikosaminoglikans pada subjek tidak seragam karena tempat pemeriksaan berbeda dan menggunakan metode yang berbeda pula. Sebanyak 24 varian ditemukan pada 7 subjek. Sebagian besar varian ditemukan pada ekson 7 (29,2%), diikuti ekson 5, 10, dan 12 (masing-masing 16,7%), ekson 13 (sebesar 12,5%). Sisanya varian ditemukan pada ekson 1, 11 dan ekson 14 (masing-masing 4,2%). Sebagian besar varian yang ditemukan merupakan varian missense (54,2%), diikuti varian silent (45,8%), dan hanya 1 (4,2%) varian yang ditemukan berupa varian nonsense. Varian tersering yang ditemukan adalah varian c.708C>T yang ditemukan pada 5 subjek, diikuti oleh varian c.510T>C dan c.1354 T>C yang ditemukan pada 3 subjek. Berdasarkan hasil temuan varian terdapat 12 varian benign, 4 VUS, dan 8 varian patogenik. Terdapat 3 varian novel pada subjek penelitian, satu di antaranya adalah varian likely pathogenic, yaitu varian c.1348 G>A. Simpulan: Dari tujuh subjek dalam penelitian ini, ditemukan 8 varian patogenik, di antaranya terdapat 1 varian likely pathogenic baru. Sebanyak 9 dari 14 alel (64,3%) dapat ditemukan varian patogenik, sedangkan 5 varian patogenik lainnya belum ditemukan. Fenotipe paling berat dialami oleh subjek 4 yang memiliki tinggi badan T. ...... Background: Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disease which is caused by defect in the N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS, galactosamine (N-acetyl)-6-sulfate sulfatase; MIM #612222). After urine glycosaminoglycan is performed as a screening tool, diagnosis is confitmed through measuring GALNS enzyme activity in leucocyte or fibroblast. Molecular testing is needed because clinical symptoms are variable. Mutation in GALNS gene are many and can be different in each ethnicity and country. This heterogeneity poses a challenge to the diagnosis of MPS IVA especially in Indonesia. Therefore, data on clinical spectrum and genetic mutation of MPS IVA in Indonesian population is needed. Aim: To determine the phenotype-genotype correlation of MPS IVA in Indonesia Method: Subjects were recruited from Department of Pediatrics, Cipto Mangunkusumo Hospital, while molecular testing was performed in the Human Genetic Cluster (HGRC) IMERI Faculty of Medicine Universitas Indonesia between Januari 1st until December 13th, 2019. Data on phenotype was evaluated from medical records. A 5 ml EDTA whole blood was then collected from the subjects. Molecular testing consists of DNA isolation, primer design, PCR, sequencing, and variant analysis. Novel variants are then classified according to guidelines from the American College of Medical Genetics and Genomics (ACMG). Results: A total of 7 subjects from 5 different cities was included in this study, consisting of 2 boys and 5 girls. Age at recruitments was between 2 to 17 years-old. Two subjects had history of MPS IVA in older sibling. Age of onset were between 2-3 years-old. No history of consanguinity in the subjects parents. All subjects were classified as severe type. Clinical manifestations found in all patients were short neck, genu valgum, pectus carinatum, loose joint, and difficulty walking. Three out of 7 subjects were still able to walk. Data on enzyme activity and glycosaminoglycans could not be compared because they were performed with different methods. Twenty four variants were found in 7 subjects. Mostly located on exon 7 (29.2%), followed by exon 5, 10, dan 12 (each 16.7%), exon 13 (12.5%), and the rest were found in exon 1, 11, and 14. Missense variants are the most commonly found (54.2%), followed by silent variants (45.8%), and 1 nonsense variant (4,2%). The most common variants found was c.708C>T in 5 subjects, followed by c.510T>C and c.1354 T>C, each on 3 subjects. These variants are classified as benign variants (50%), VUS (1.7%), and pathogenic variants (33.3%). Three novel variants were found in this study, including one likely pathogenic variants, c.1348 G>A. Conclusion: Eight pathogenic variant were found including one novel likely pathogenic variant. Nine out of 14 alleles (64.3%) were found. The most sever phenotype was found in subject 4 who had nonsense homozygous pathogenic variant c.751 C>T.
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2019
SP-pdf
UI - Tugas Akhir  Universitas Indonesia Library
cover
cover
Fadila Asmaniar
Abstrak :
Dalam beberapa tahun terakhir, Demam Berdarah Dengue (DBD) telah menjadi isu utama di antara masalah kesehatan di seluruh dunia. DBD adalah infeksi nyamuk yang bermanifestasi dalam berat penyakit seperti flu, dan mungkin berkembang menjadi komplikasi yang berpotensi mematikan yang disebut Dengue Syok Syndrome. Dengue sering ditemukan di daerah tropis dan sub-tropis di seluruh dunia, terutama di daerah perkotaan dan semi-perkotaan. Dalam konkordansi untuk metode diagnostik dan pengembangan vaksin, variasi genetik terjadi. Di sini dianalisis genom 2 DENV menggunakan perangkat lunak Gentyx dalam rangka untuk mencari tahu apa genotipe dari DENV 2 serotipe. Penelitian ini mengambil desain studi cross sectional di Jakarta 2010. Sampel diambil dari pasien DBD yang serum diuji dengan RT-PCR sebagai standar emas untuk mengkonfirmasi apakah pasien menderita DBD atau tidak. Sampel populasi dicurigai pasien DBD dari 5 kota di Jakarta dengan usia mereka mulai dari 14 sampai 60 tahun. Penelitian ini dilakukan untuk mengevaluasi karakteristik pasien dengue dan genotipe virus dengue. Selain itu, kami merancang primer untuk memperkuat dan mensekuens genom virus dengue galur Indonesia. Hasilnya menunjukkan bahwa perempuan memiliki jumlah yang sedikit lebih tinggi dibandingkan laki-laki dengan DBD telah dikonfirmasi. DENV 2 ditemukan menjadi serotipe yang paling beredar di Jakarta. Selanjutnya, 14 sampai 20 tahun adalah kelompok paling dominan di antara semua kelompok umur. Disarankan untuk melakukan penelitian lebih dari DENV 2 di Indonesia yang menggunakan cakupan yang lebih luas dari provinsi dan angka sampel yang lebih banyak.
In the past few years, Dengue Hemorrhagic Fever (DHF) has been a major issue among the worldwide health problems. DHF is a mosquito-borne infection that manifests in severe flu-like illness, and it might progress to a complication potentially leading to mortality termed as Dengue Shock Syndrome. Dengue is a frequent virus in tropical and sub-tropical regions, especially in urban and semi-urban areas. In concordance with diagnostic methods and vaccine development, genetic variation takes place. In this study we analyze the DENV 2 genome using Gentyx software in order to find out what the genotypes of DENV 2 serotypes are. This research was designed in cross sectional study, taking place in Jakarta 2010. The samples were taken from DHF patients whose blood serum was tested by RT-PCR. The population sample were suspected DHF patient from 5 cities in Jakarta with their ages ranging from 14 to 60 years old. The study is conducted to evaluate the dengue patient's characteristics and genotype of dengue viruses. Moreover, we designed the primer to amplify and sequence Indonesian strain dengue virus genomes. The result demonstrated that women have slightly higher numbers of confirmed DHF than male. DENV 2 is found to be the most circulating serotype in Jakarta. In addition 14 to 20 years old was the mot predominant among all of age groups. It was suggested to conduct more research of DENV 2 in Indonesia using wider coverage of province and also larger numbers of samples.
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2013
S-Pdf
UI - Skripsi Membership  Universitas Indonesia Library
cover
Septelia Inawati Wanandi
Abstrak :
Although the most common cause of lung cancer is long-term exposure to tobacco smoke, the role of genetic factor for the cell defense mechanism, such as MnSOD, should also be considered. This study aims to analyze the expression and genotype of MnSOD in lung cancer cells of smoker patients. Samples were normal and lung cancer cells of patients operated in Persahabatan Hospital from May to December 2008, as well as lung cancer cells extracted from FFPE collection. Leukocyte cells of healthy smoker subjects were used as controls. The MnSOD mRNA expression was analyzed using Real Time RT-PCR and the specific activity using xantin oxidase inhibition assay. The genotyping was performed using PCR-RFLP. The result showed that the MnSOD specific activity in lung cancer of smoker patients is higher than in leukocyte cells of smoker controls. Compared to the expression of MnSOD in the normal lung cells of patients, in the lung cancer cells the level of MnSOD mRNA was lower, whereas its specific activity was higher (1.988 times). The samples from lung cancer patients have a Val/Val genotype frequency of 100%. In this study, we could conclude that MnSOD expression is altered in lung cancer cells.
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2009
AJ-Pdf
Artikel Jurnal  Universitas Indonesia Library
<<   1 2   >>