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Sri Sofiati Umami
"Latar Belakang : Runt related transcription factor2 (RUNX2) memiliki peran
penting dalam proses osteoblastogenesis yang terlibat dalam pengaturan formasi
tulang. Penurunan aktivitas sel osteoblas dapat mengakibatkan terjadinya
osteoporosis. Pasien osteoporosis lebih banyak dialami oleh wanita menopause
yang diperlihatkan dengan penurunan kadar estrogen. Pada penelitian ini akan
menganalisis Single Nucleotide Polymorphism (SNPs) yang diamati pada daerah
promoter gen RUNX2 untuk mengetahui hubungan polimorfisme promoter 1 (P1)
gen RUNX2 terhadap T-score dan risiko osteoporosis wanita menopause.
Bahan dan Metode : Penelitian ini bertujuan untuk menganalisis polimorfisme
pada promoter 1 -330 G/T RUNX2 dengan desain penelitian cross-sectional. SNPs
yang terdapat pada promoter (P1) RUNX2 dianalisis menggunakan metode PCRRFLP
yang dilakukan pada 161 wanita menopause, terdiri dari 50 wanita
osteoporosis, 53 osteopenia dan 58 wanita normal. Densitas mineral tulang diukur
menggunakan nilai T-score subyek menggunakan teknik Quantitative Ultrasound
(QUS).
Hasil : Hasil penelitian menunjukkan bahwa distribusi genotip dan alotip pada
semua kelompok (normal, osteopenia dan osteoporosis) tidak berbeda bermakna
(P>0,05). T-score masing-masing genotip dan alotip secara statistik menunjukkan
hasil yang tidak berbeda bermakna, namun perbandingan rerata T-score pada
wanita dengan homozigot alel T lebih rendah daripada homozigot alel G dan
heterozigot GT, selain itu frekuensi pada genotip TT dan alel T cenderung
meningkat pada kelompok osteoporosis. Analisis Odds Ratio (OR)
memperlihatkan bahwa masing-masing genotip bukan merupakan faktor risiko
tehadap osteoporosis. Hasil penelitian ini dapat disimpulkan bahwa tidak terdapat
hubungan bermakna antara polimorfisme genetik promoter gen RUNX2 terhadap
risiko osteoporosis (P>0,05).

Introduction : Runt related transcription factor2 (RUNX2) is considered to play
important role for osteoblastogenesis and involved in the regulation of bone
formation. Decreased activity of osteoblastic cell is one important factor causing
osteoporosis. Most patients suffering from osteoporosis are menopausal women
exhibiting decreased of estrogen. Single nucleotide polymorphism (SNPs) was
observed within RUNX2 promoter 1 (P1) to identify its association for T-score
and risk of osteoporosis in menopausal women.
Material and Methode : In the present study we analysed polymorphism in the
RUNX2 promoter 1 -330 G/T with the cross sectional design. SNPs within
RUNX2 Promoter 1 (P1) was examined using PCR-RFLP methode in 161
menopausal Indonesian women; 50 women with osteoporosis, 53 with osteopenia
and 58 healthy women. Bone mineral density (BMD) was measured by T-score
value using Quantitative Ultrasound (QUS).
Results : The result showed that the difference of genotype and alotype frequency
of RUNX2 promoter gene were not statistically significant. The T-score of
genotype and alotype were not significantly different (p>0,05). While women who
were homozygous allele (T) had lower average T-score than homozygous allele
(G) and heterozygous (GT). Genotype frequency of TT and allele T tend to
increase in osteoporosis group. The Odds Ratio showed genotype in RUNX2
promoter 1 had no risk of osteoporosis. These data suggest that polymorphism of
RUNX2 Promoter 1 was not assosiated to the risk of osteoporosis in Indonesian
menopausal women (p>0,05).
"
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2012
T58842
UI - Tesis Membership  Universitas Indonesia Library
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Kwari Januar
"Pendahuluan: Osteogenesis imperfecta(OI) merupakan penyakit langka dengan dampak yang luas. Anak dengan OI mengalami gangguan mobilitas dan deformitas karena fraktur multipel dan berulang, memiliki masalah psikososial, masalah mental emosional juga masalah ekonomi (finansial) sebagai dampak tidak langsung, hingga akhirnya berpengaruh terhadap kualitas hidup. Klasifikasi OI berdasarkan keparahan klinis yakni ringan-sedang dan berat. Keparahan klinis OI berkorelasi dengan beratnya penyakit. Sejauh ini belum ada penelitian yang fokus terhadap aspek holistik dan korelasinya dengan QoL OI.
Metode: Penelitian potong lintang secara daring dilaksanakan dari Agustus 2020 hingga Desember 2020 menggunakan berbagai kuesioner (PEDS QL 4.0 untuk QoL, SDQ untuk masalah mental emosional, PSC untuk masalah psikososial dan World Bank untuk evaluasi masalah finansial) pasien OI umur 4-18 tahun. Selanjutnya dilakukan analisis untuk mengetahui faktor mana yang lebih berpengaruh.
Hasil: Lima puluh subjek ikut serta dalam penelitian ini. Kualitas hidup berhubungan dengan keparahan penyakit berdasarkan laporan orangtua p=0.029 PR=5.474, kepatuhan terapi bisfosfonat memengaruhi QoL berdasarkan laporan anak p=0.043 PR=3.167 sementara keparahan OI tidak memengaruhi masalah mental emosional, psikososial dan ekonomi. Penurunan QoL berhubungan dengan masalah fisik dan psikososial menurut laporan anak dan laporan orangtua.
Kesimpulan: Keparahan klinis OI berhubungan dengan QoL yang rendah, tidak ditemukan masalah psikososial, mental emosional dan ekonomi.

Introduction: Osteogenesis Imperfecta (OI) is a rare disease with multiple impact. Children with OI have mobility disorder and deformity due to multiple and recurrent fractures, psychosocial problems, mental emotional problems and also socioeconomic problem (financial) as indirect results, which could affect Quality of Life (QoL). OI classification according to clinical severity level mild-moderate and severe. Clinical severity of OI correlate with disease burden. No research focus on holistic aspect and it correlation with OI QoL.
Methods: We conducted a cross sectional research via daring from August 2020 to December 2020 using multiple questionnaires (PEDS QL 4.0 for QoL, SDQ for mental emotional problems, PSC for psychosocial problems and World Bank for assessing financial problems) to OI patients age 4-18 years. After obtain the QoL value, we conducted analysis to reveal most influencing factors.
Results: Fifty subjects participated in this research. QoL have association with severity of disease according to parent report p=0.029 PR=5.474, bisphosphonate compliance according to children report p=0.043 PR=3.167), OI severity has no association with mental emotional, psychosocial and economic. QoL decrease associated with physical and psychosocial problems.
Conclusion: Osteogenesis imperfecta severity associate with low QoL, without affect mental emotional, psychosocial and economic.
"
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2021
T-pdf
UI - Tesis Membership  Universitas Indonesia Library
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Vera Julia
"ABSTRAK Tujuan: Regenerasi tulang membutuhkan bahan osteokonduktif yang berfungsi sebagai scaffold. Koral dipilih sebagai scaffold karena disamping bersifat osteokonduktif, juga memiliki biokompatibilitas dan daya resorpsi yang baik. Untuk lebih memudahkan penggunaan secara klinis pada bedah mulut, serbuk koral Goniopora sp perlu diformulasikan menjadi sediaan yang sesuai serta memenuhi persyaratan keamanan, kemanfaatan, dan mutu sebagai sediaan farmasi. Sediaan pasta tandur tulang yang diperoleh dari hasil pengembangan dan formulasi serbuk koral Goniopora sp, akan diuji osteokonduktivitasnya secara in vivo sebagai uji preklinik sebelum dapat dilanjutkan dengan uji osteogenesis pada defek tulang secara klinis. Metodologi: Penelitian diawali oleh karakterisasi koral Goniopora sp menggunakan berbagai metode fisiko kimia, dilanjutkan dengan analisis logam berat timbal (Pb) dan kadmium (Cd), orientasi, optimasi dan formula sediaan pasta koral, uji stabilitas fisik, uji stabilitas kimia sediaan pasta koral, pembuatan formula steril di lab steril dan sterilisasi dengan radiasi sinar gamma 25 kGy, dilanjutkan dengan uji pasta koral steril dengan metoda mikrobiologi. Kemudian pasta koral steril diaplikasikan pada hewan coba untuk menguji sifat osteokonduktivitas dari formula tersebut pada empat kelompok penelitian yaitu kelompok pasta koral, kelompok serbuk koral, kelompok eksipien, dan kelompok sham. Terminasi dilakukan pada hari ke-7, ke-14 dan ke-28. Kemudian dilakukan analisis melalui micro-CT scan dan SEM, untuk melihat struktur mikro dan pertumbuhan tulang baru pada masing-masing sampel penelitian. Hasil: Dari karakterisasi koral Goniopora sp serbuk berukuran 200 mesh terdapat kandungan kimia utama kalsium (Ca) dan karbonat (CO3) sebesar masing-masing 37,83 dan 58,94%. Pb maupun Cd tidak terdeteksi pada batas deteksi alat masing-masing 0,11 dan 0,47 ppm. Formulasi berhasil dibuat menggunakan eksipien PVP dan Poloxamer 188 dengan perbandingan 1:1. Hasil uji stabilitas fisik dan kimia menunjukkan bahwa sediaan pasta mempunyai kestabilan fisik dan kimia serta steril. Pada uji osteokonduktivitas sediaan pasta unggul pada pola pertumbuhan tulang baru dimana pertumbuhan object volume, persen object volume, dan struktur thickness berada di puncaknya pada hari ke-14 dan perlahan turun sampai hari ke-28 secara terkontrol. Pada hasil SEM juga terlihat struktur mikro permukaan sampel tulang yang diberi perlakuan dengan sediaan pasta lebih padat dibandingkan kelompok lainnya. Kesimpulan: Berdasarkan data tersebut dapat disimpulkan bahwa serbuk koral Goniopora sp dapat dikembangkan menjadi sediaan pasta menggunakan eksipien PVP dan Poloxamer 188.
ABSTRACT Objective: Bone regeneration requires an osteoconductive material functioning as a scaffold. Based on its osteoconductivity, biocompatibility, and good resorption properties, coral has been selected as scaffold. To promote clinical application in oral surgery, as bone graft preparation, in this study Goniopora sp coral powder was formulated as an appropriate dosage form that meets safety, efficacy, and quality requirements as a pharmaceutical preparation. The bone graft preparation thus obtained was tested in vivo as preclinical test prior to clinical osteogenesis test in bone defects cases. Methodology: The study was initiated by characterization of Goniopora sp coral using various physicochemical methods. This was then followed by analysis of the heavy metals lead (Pb) and cadmium (Cd). Orientation, optimization and formulation were carried out in the preparation of coral paste. The coral paste was evaluated physicochemically for its stability after sterile preparation using gamma radiation (exposure to 25 kGy of gamma ray). Afterwards, the sterile coral paste was applied to the femur bones of test animals to test the osteoconductivity. The animals were divided into four groups, namely coral paste group, coral powder group, excipient group and sham group. The animals were sacrified on the 7th, 14th and 28th days post-application. Bone analysis was done through micro-CT scan and SEM, to see the microstructure and new bone growth in each study sample. Results: Characterization of 200 mesh powdered Goniopora sp coral revealed that the powder contained Calcium (Ca) and carbonate (CO3) at the level 37.83 and 58.94%, respectively. Neither Pb nor Cd was detected at limit of detection (LOD) of instrument of 0.11 dan 0.47 ppm, respectively. The formula was successfully prepared using PVP and Poloxamer 188 as excipients with a ratio of 1: 1. The results of physical and chemical stability as well as sterility tests showed that coral paste preparations had good physicochemical stability and was sterile. In the osteoconductivity test, it was observed that the coral paste preparation was superior with regard to the new bone growth pattern where the growth of the object volume, percent object volume, and thickness structure peaked on the 14th day and controllably decreased until the 28th day. The SEM results also showed that the microstructure of the the bone surface treated with the coral paste sample was denser than the other groups. Conclusion: Based on these data it can be suggested that the powder of Goniopora sp coral can be developed into a paste preparation for bone grafting using PVP and Poloxamer 188 as excipients.

"
Depok: Fakultas Kedokteran Gigi Universitas Indonesia, 2018
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UI - Disertasi Membership  Universitas Indonesia Library
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Ema Susiana
"ABSTRAK
LATAR BELAKANG: Proses remodelling tulang ditentukan oleh keseimbangan antara proses pembentukan oleh osteoblast dan resorpsi sel tulang oleh osteoklas. Osteprotegerin (OPG) memiliki peran penting dalam menghambat proses resorpsi tulang oleh osteoklas. Pada wanita menopause, proses resorpsi lebih tinggi daripada proses pembentukan tulang, sehingga dapat mengakibatkan terjadinya osteoporosis. Pada penelitian ini, single nucleotide polymorphisms (SNPs) pada daerah promoter gen OPG diteliti untuk mengetahui hubungannya dengan risiko osteoporosis pada wanita menopause.
BAHAN dan CARA KERJA: Penelitian ini melibatkan 285 wanita Indonesia menopause yang terdiri dari 81 wanita normal, 143 wanita dengan osteopenia dan 61 wanita dengan osteoporosis. Angka T-score diperoleh dengan pengukuran menggunakan Ultrasound Densitometry. Analisis genetik dilakukan menggunakan teknik PCR-RFLP. Analisis statistik menggunakan uji chi-square dengan asumsi kemaknaan p<0,05.
HASIL: Hasil penelitian memperlihatkan bahwa frekuensi genotip (TT, TC dan CC) pada semua kelompok (normal, osteopenia dan osteoporosis) tidak berbeda bermakna (p>0,05). Frekuensi alotip (alel T dan C) pada semua kelompok juga tidak berbeda bermakna (p>0,05). Hasil perhitungan odd ratio dengan menggunakan genotip TT sebagai pembanding memperlihatkan bahwa genotip CC memiliki kemungkinan mengalami gangguan kelainan tulang (osteopenia dan osteoporosis) 0,29 kali (22%) dan TC 0,88 kali (46%) lebih besar dibandingkan dengan genotip TT. Dari hasil penelitian ini, dapat disimpulkan bahwa SNP T950C tidak memiliki peranan dalam kejadian osteoporosis pada wanita menopause di Indonesia.

ABSTRACT
INTRODUCTION: Bone remodelling process is determined by the balance between the bone formation and resorption. Osteoprotegerin (OPG) has an important role to inhibit bone resorption by osteoclast. In menopausal women, the rate of bone resorption is higher than its formation, thereby inducing osteoporosis. In this study, single nucleotide polymorphism (SNPs) in promoter region of gene OPG is studied regarding to the association to the risk of the osteoporosis in menopausal Indonesian women.
MATERIAL and METHODS: The study samples consist of 285 menopausal Indonesian women, of which 81 are classified as normal (healthy), 143 are with osteopenia and 61 are with osteoporosis. T-score is obtained from the measurement using Ultrasound Densitometry, and genetic polymorphism analysis was performed by PCR RFLP. The statistical analysis uses chi-square with significance assumption at p<0.05.
RESULT: This study shows the frequency of genotypes (TT, TC and CC) to all groups (normal, osteopenia and osteoporosis), but it does not demonstrate any significant differences (p>0.05). The frequency of allotypes (T and C) to all groups also does not show the significance (p>0.05). Odd ratio calculations demonstrate that the possibility of developing bone disorders (osteopenia and osteoporosis) for both CC genotype and TC genotype is higher than TT genotype, as much as 0.29 times higher (22%) and 0.88 times higher (46%), respectively."
2013
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UI - Tesis Membership  Universitas Indonesia Library
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Nike Dewi Anggraini
"Osteogenesis imperfekta (OI) merupakan adalah penyakit genetik kelainan jaringan ikat berupa kerapuhan tulang dan fraktur berulang tanpa adanya trauma yang signifikan. Terdapat berbagai karakteristik klinis yang khas untuk mendiagnosis OI. Terapi bisfosfonat merupakan terapi utama pada OI yang bermanfaat untuk menurunkan insiden patah tulang agar tercapai kualitas hidup yang lebih baik. Penelitian ini bertujuan mengetahui karakteristik klinis dan luaran terapi bisfosfonat pada pasien anak dengan OI di RSCM. Penelitian ini dilakukan secara potong lintang terhadap 71 pasien OI berusia 0-18 tahun di RSCM pada 16-22 November 2020. Data diambil melalui kuesioner daring yang diisi oleh orangtua atau wali. Karakteristik klinis OI mencakup sklera biru (83%) dan patah tulang pada 69 (97%) pasien dengan lokasi paling banyak di tulang femur (66,2%). Hanya terdapat 18 subyek yang sudah melakukan pemeriksaan pendengaran dengan 4 (22%) diantaranya terdapat gangguan pendengaran. Klasifikasi klinis OI paling banyak adalah tipe berat (57%). Enam puluh lima subyek mengalami patahtulang di usia kurang dari 6 tahun termasuk intrauterin dan perinatal. Sebanyak 95,8% subyek mendapatkan terapi bisfosfonat dan hampir seluruhnya diberikan rutin setiap 6 bulan. Terdapat penurunan median kejadian patah tulang sebelum terapi bisfosfonat sebanyak 3,5 kejadian/tahun menjadi satu kejadian/tahun setelah terapi bisfosfonat. Terapi bisfosfonat dapat menurunkan angka kejadian patah tulang setiap tahun.

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue causing bone fragility and fractures in the absence of significant trauma. There are many typical clinical features of OI. Bisphosphonate therapy is the main therapy which significantly decreases fracture rate for better quality of life. This study was aimed to observe the clinical features and outcomes of bisphosphonate therapy in pediatric OI patients. A cross sectional study was conducted at Cipto Mangunkusumo Hospital (CMH) in the period of November 16th-22nd 2020. There were 71 patients aged 0-18 years old included for study analysis. Data were obtained from online questionnaire which was filled by their parents or guardians. The clinical features observed were blue sclera (83%) and fractures which occurred in 69 (97%) patients with the most common location was femur (66.2%). There were only 18 patients who underwent hearing examination and 4 of them (22%) had hearing problem. Most patients had severe OI classification (57%). Sixty-five patients had first fracture when their age <6 years old, including intrauterine and perinatal fractures. A total of 95.8% patients had received bisphosphonate therapy and almost all of patients had received treatment every 6 month. There was a decrease in the number of fractures from 3.5 events/year (before bisphosphonate therapy) to 1 event/year after bisphosphonate therapy. The outcome of bisphosphonate therapy was significant in terms of fracture incidence reduction. Bisphosphonate therapy was able to reduce fracture incidence per year."
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2020
T-pdf
UI - Tesis Membership  Universitas Indonesia Library
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Gilbert Mayer Christianto
"Osteogenesis Imperfecta OI adalah kelainan genetik pada gen pengkode kolagen yang menyebabkan kolagen tipe 1 tidak terbentuk. Manifestasi utama dari kelainan ini adalah pada jaringan ikat seperti tulang, dan kulit. Namun pada tipe yang parah ditemukan juga komplikasi pada sistem saraf, seperti hidrosefalus dan kraniosinostosis. Gangguan pada sistem saraf pusat dalam menyebabkan masalah pada berbagai fungsi otak, seperti perilaku. Penelitian ini bertujuan mengetahui hubungan dari keparahan klinis OI dengan gangguan perilaku pada anak usia 5-12 tahun. Sebuah studi potong lintang, menggunakan rumus analitik korelatif numerik-numerik dibutuhkan jumlah sampel minimum 38 orang. Namun hanya 20 anak yang bisa dikumpulkan dari daerah Jakarta dan sekitarnya. Keparahan klinis diukur menggunakan Clinical Scoring System CSS untuk Osteogenesis Imperfecta dan gangguan perilaku anak diukur menggunakan subskala kesulitan dari Parent-Rated Strength and Difficulties Questionnaires SDQ . Subskala kesulitan terdiri dari 4 buah komponen: emotional problem, conduct problem, hyperactivity, peer problem. Uji korelasi juga dilakukan antara skor keparahan klinis dengan keempat komponen ini. Tergantung persebaran data, dilakukan uji pearson atau spearman antara variabel-variabel tersebut. Analisa dilakukan menggunakan perangkat lunak SPSS versi 20. Hasil menunjukkan tidak ada korelasi bermakna dari keparahan klinis Osteogenesis Imperfecta dengan gangguan perilaku anak pada usia 5-12 tahun p > 0,05 . Akan tetapi ditemukan korelasi dengan kemaknaan rendah antara keparahan klinis OI dengan fungsi psikomotor hyperactivity p=0,049, r=0,446 . Perlu diperhatikan jumlah sampel yang didapatkan tidak memenuhi jumlah minimum, sehingga dapat memengaruhi nilai uji statistik.

Osteogenesis Imperfecta OI is a genetic disorder in the collagen coding gene that causes defect in type 1 collagen formation. The main manifestation of this disorder are in connective tissue, such as bone and skin. However in cases with high severity, neurological complications are often found, such as hydrocephalus and craniocytosis. Disorders of the central nervous system will cause various disturbances in brain functions, such as the process of behavior. This study will aim to find the correlation between clinical severity of OI with behavioral disorders in children at 5 12 years of age. A cross ndash sectional study, using numerical analytic correlation formula, minimum sample size of 38 subject was obtained. However only 20 children were able to be collected from Jakarta and the surrounding areas. The clinical severity was measured using Clinical Scoring System CSS for Osteogenesis Imperfecta and children 39 s behavioral disorders were measured using the difficulties subscales of Parent Rated Strength and Difficulties Questionnaires. This subscales consists of four components emotional problem, conduct problem, hyperactivity and peer problem. Correlation test was also performed between clinical severity with these components. Using SPSS version 20, Pearson or Spearman correlation test were conducted depending on the data distribution of the variables. The results showed no significant correlation between clinical severity of Osteogenesis Imperfecta with behavioral disorders of children age 5 12 years p 0.05 . However, correlation with low significance was found between clinical severity of OI with psychomotor function hyperactivity p 0.049, r 0.446 . The number of samples obtained does not meet the minimum number needed, therefore can affect the significance of the statistical test."
Depok: Universitas Indonesia, 2017
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UI - Skripsi Membership  Universitas Indonesia Library
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Siahaan, Othdeh Samuel Halomoan
"ABSTRAK
Pendahuluan. Kesulitan dalam tatalaksana defek tulang yang luas merupakan salah satu tantangan dewasa ini. Selain tatalaksananya yang kompleks juga dapat memberikan dampak jangka panjang negatif yang berat. Penggunaan BMP-2 dalam tatalaksana fraktur dengan defek tulang yang luas memegang peranan penting. BMP-2 berperan pada proses osteogenesis dan chondrogenesis dan menghambat osteoclastogenesis melalui RANKL signaling. Penelitian ini bertujuan untuk mengetahui efek dari perbedaan dosis BMP-2 terhadap penyembuhan fraktur dengan defek tulang yang luas.
Metode. Penelitian dilakukan di Laboratorium Animal Gizi di FKUI dan Laboratorium Patologi Anatomi FKUI-RSCM, pada bulan Juli hingga September 2015. Desain penelitian adalah randomized post test control group. Sejumlah 25 ekor tikus putih Sprague Dawley dengan usia 3-4 bulan dan berat badan antara 250 ? 350 gram, dibagi secara acak menjadi kelompok kontrol hidroksiapatit (HA) saja dan kelompok kombinasi HA + BMP-2 1 μg/ml, HA + BMP-2 5 μg/ml, HA + BMP-2 10 μg/ml, HA + BMP-2 20 µg/ml. Tiap kelompok dilakukan tindakan berupa frakturisasi dengan defek tulang 10mm pada femur kanan dan dilakukan fiksasi interna dengan menggunakan intramedullary k-wire ukuran 1,4 mm secara retrograd. Setelah 6 minggu dilakukan penilaian secara histomorfometri, radiologis dan Scanning Electron Microscope (SEM).
Hasil. Berdasarkan hasil penelitian secara histomorfometri ditemukan terdapat perbedaan rerata total area kalus yang bermakna diantara kelompok penelitian (p<0,001),terdapat perbedaan bermakna rerata area penulangan antara kelompok kontrol dengan kelompok 1 μg/ml, 5 μg/ml, 10 μg/ml, 20 μg/ml (masing-masing p=0,009, p=0,016, p=0,009 dan p=0,016), terdapat perbedaan bermakna rerata area kartilago antara kelompok kontrol dengan kelompok 1 μg/ml, 5 μg/ml, 10 μg/ml, 20 μg/ml (masing-masing p=0,009, p=0,009, p=0,009 dan p=0,028), terdapat perbedaan bermakna rerata area fibrosis antara kelompok kontrol dengan kelompok 1 μg/ml dengan kelompok kontrol dan 10 μg/ml(masing-masing p=0,047 dan p=0,009).Secara radiologis dengan RUST score didapatkan perbedaan bermakna antara kelompok kontrol dengan kelompok 1 μg/ml, 5 μg/ml, 10 μg/ml, 20 μg/ml (masing-masing p=0,005, p=0,006, p=0,005 dan p=0,006). Dengan SEM didapatkan gambaran kalus yang lebih homogen dan padat pada kelompok 10μg/ml dibandingkan dengan 5 μg/ml dan 20 μg/ml.
Kesimpulan: Pemberian BMP-2 dapat menstimulasi proses penyembuhan fraktur pada defek tulang luas (critical bone defect) yang bermakna secara statistik, histomorfometri, radiologis maupun secara kualitatif dengan SEM. Terdapat dosis optimal dalam pemberian BMP-2.ABSTRACT
Introduction: Difficulties in the management of extensive bone defects is one of today's challenges. It is not only complex treatment but also can provide long-term negative severe effects. The use of BMP-2 in the treatment of fractures with extensive bone defect plays an important role. BMP-2 plays a role in the process of osteogenesis and chondrogenesis and inhibits osteoclastogenesis via the RANKL signaling. This study aims to determine the effect of differences in doses of BMP-2 on the healing of the fracture with extensive bone defects.
Methods: The study was conducted at the Laboratory of Animal Nutrition at the Faculty of Medicine University of Indonesia (FMUI) in July until September 2015. The study design was randomized posttest control group. A number of 25 Sprague Dawley rats aged 3-4 months and bodyweight between 250-350 grams, were randomly divided into a control group of hydroxyapatite (HA) alone and HA+BMP-2 1 µg / ml, HA+BMP -2 5 ug / ml, HA + BMP-2 10 µg / ml, HA + BMP-2 20 ug / ml. Each group carried out fracturization with 10mm bone defect in right femur and internal fixation by using intramedullary K-wire size of 1.4 mm retrograde. After 6 weeks we did histomorfometri assessment, radiological and Scanning Electron Microscope (SEM).
Results: Based on the research results histomorfometrcally found there are differences in the mean total area of ​​callus significantly between the study group (p <0.001), there were significant differences in the mean area of ​​woven bone between the control group with group 1 ug / ml, 5 µg / ml, 10 µg / ml, 20 ug / ml (respectively p = 0.009, p = 0.016, p = 0.009 and p = 0.016), there were significant differences in the average area of ​​the cartilage between the control group with group 1 ug / ml, 5 µg / ml, 10 µg / ml, 20 ug / ml (respectively p = 0.009, p = 0.009, p = 0.009 and p = 0.028), there were significant differences in the average area of ​​fibrosis between the control group with group 1 ug / ml in the control group and 10 mg / ml (respectively -masing p = 0.047 and p = 0.009) .In radiologist assessment with RUST scores obtained significant differences between the control group and group 1 ug / ml, 5 µg / ml, 10 µg / ml, 20 µg / ml (respectively p = 0.005 , p = 0.006, p = 0.005 and p = 0.006). SEM features with callus more homogeneous and dense in the group of 10μg / mL compared with 5 ug / ml and 20 µg / ml.
Conclusion: Administration of BMP-2 could stimulate the process of fracture healing in large bone defects (critical bone defect) which was statistically significant with histomorfometri assestment, radiological and qualitatively with the SEM. There is an optimal dose in the administration of BMP-2.;Introduction: Difficulties in the management of extensive bone defects is one of today's challenges. It is not only complex treatment but also can provide long-term negative severe effects. The use of BMP-2 in the treatment of fractures with extensive bone defect plays an important role. BMP-2 plays a role in the process of osteogenesis and chondrogenesis and inhibits osteoclastogenesis via the RANKL signaling. This study aims to determine the effect of differences in doses of BMP-2 on the healing of the fracture with extensive bone defects.
Methods: The study was conducted at the Laboratory of Animal Nutrition at the Faculty of Medicine University of Indonesia (FMUI) in July until September 2015. The study design was randomized posttest control group. A number of 25 Sprague Dawley rats aged 3-4 months and bodyweight between 250-350 grams, were randomly divided into a control group of hydroxyapatite (HA) alone and HA+BMP-2 1 µg / ml, HA+BMP -2 5 ug / ml, HA + BMP-2 10 µg / ml, HA + BMP-2 20 ug / ml. Each group carried out fracturization with 10mm bone defect in right femur and internal fixation by using intramedullary K-wire size of 1.4 mm retrograde. After 6 weeks we did histomorfometri assessment, radiological and Scanning Electron Microscope (SEM).
Results: Based on the research results histomorfometrcally found there are differences in the mean total area of ​​callus significantly between the study group (p <0.001), there were significant differences in the mean area of ​​woven bone between the control group with group 1 ug / ml, 5 µg / ml, 10 µg / ml, 20 ug / ml (respectively p = 0.009, p = 0.016, p = 0.009 and p = 0.016), there were significant differences in the average area of ​​the cartilage between the control group with group 1 ug / ml, 5 µg / ml, 10 µg / ml, 20 ug / ml (respectively p = 0.009, p = 0.009, p = 0.009 and p = 0.028), there were significant differences in the average area of ​​fibrosis between the control group with group 1 ug / ml in the control group and 10 mg / ml (respectively -masing p = 0.047 and p = 0.009) .In radiologist assessment with RUST scores obtained significant differences between the control group and group 1 ug / ml, 5 µg / ml, 10 µg / ml, 20 µg / ml (respectively p = 0.005 , p = 0.006, p = 0.005 and p = 0.006). SEM features with callus more homogeneous and dense in the group of 10μg / mL compared with 5 ug / ml and 20 µg / ml.
Conclusion: Administration of BMP-2 could stimulate the process of fracture healing in large bone defects (critical bone defect) which was statistically significant with histomorfometri assestment, radiological and qualitatively with the SEM. There is an optimal dose in the administration of BMP-2."
Fakultas Kedokteran Universitas Indonesia, 2015
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UI - Tugas Akhir  Universitas Indonesia Library
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Adita Hadining Putri
"Endometriosis adalah kelainan ginekologis yang ditandai dengan adanya jaringan endometrium yang tumbuh di luar uterus. Penyakit ini bersifat multifaktorial, salah satunya dipengaruhi genetik. Polimorfisme genetik gen reseptor progesteron (PR) diketahui berhubungan dengan penyakit endometriosis. Penelitian ini bertujuan untuk mengetahui hubungan antara polimorfisme gen PR rs544843047 di bagian promoter dengan endometriosis di Indonesia. Penelitian ini menggunakan desain cross sectional, dengan membandingkan 25 jaringan endometriosis dari wanita penderita endometriosis dan 21 jaringan endometrium dari wanita tanpa endometriosis. Molekul DNA dari kedua jenis jaringan diisolasi, diamplifikasi dengan menggunakan metode PCR. Analisis perubahan nukleotida pada gen PR dilakukan dengan metode sequencing. Hasil penelitian menunjukkan frekuensi genotip dan alel pada SNP gen PR rs544843047 adalah genotip TT 100% dan alel T 100%. Penelitian ini menyimpulkan bahwa tidak ada hubungan antara SNP gen PR pada rs544843047 dengan penyakit endometriosis di Indonesia.

Endometriosis is a gynecological disorder characterized by the presence of endometrial tissues that grow outside the uterus. This disease is multifactorial cause, one of which is influenced by genetics factor, and genetic polymorphism of the Progesterone Receptor (PR) gene is known to be associated with endometriosis. The aim of this study was to determine the relationship between PR gene polymorphism rs544843047 in the promoter and endometriosis in Indonesia. A cross sectional design was used in this study, comparing 25 endometriosis tissues of women with endometriosis and 21 endometrial tissues of women without endometriosis. DNA molecules from both types of tissues were isolated, then amplified using the PCR method. While analysis of nucleotide changes in the PR gene was conducted by sequencing. The results showed that the genotypic and allelle frequencies of the PR rs544843047 SNP were 100% TT genotype and 100% T allele. This research concludes that there are no association between SNP PR gene in rs544843047 and endometriosis in Indonesia.
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Jakarta: Fakultas Kedokteran Universitas Indonesia, 2018
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UI - Skripsi Membership  Universitas Indonesia Library
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Hutabarat, Astrid Dinda Renata
"Interleukin 6 merupakan sitokin yang berperan penting dalam patogenesis periodontitis. Beberapa penelitian telah menunjukan bahwa polimorfisme promotor gen IL-6 berpengaruh terhadap kerentanan host terhadap penyakit periodontitis. Untuk mengetahui hubungan polimorfisme promotor gen IL-6 - 174G/C dengan tingkat keparahan periodontitis dilakukan penelitian menggunakkan 103 sampel DNA yang terdiri dari 23 kontrol sehat, 9 periodontitis ringan, 41 periodontitis sedang dan 30 periodontitis berat yang dianalisis dengan metode PCR-RLFP. Hasil penelitian ditemukan 100 genotip GG dan 3 genotip GC, tidak ditemukan genotip CC. Tes Kolmogorov-Smirnov menyatakan P=0,773 dan P=0.662 sehingga disimpulkan tidak terdapat hubungan antara polimorfisme promotor gen IL-6 -174G/C dengan tingkat keparahan periodontitis.

Interleukin 6 is a cytokine that plays a major role in the pathogenesis of periodontitis. Studies have shown that polymorphisms of IL-6 gene promoter affects host susceptibility to periodontitis. To evaluate the correlation of gene promoter polymorphism IL-6-174G/C with severity of periodontitis, 103 stored DNA samples consist of 23 healthy controls, 9 mild periodontitis, 41 moderate periodontitis and 30 severe periodontitis were analyzed by PCR-RLFP, resulting distribution of 100 GG genotypes, 3 GC genotypes, and CC genotype wasn?t found. Kolmogorov-Smirnov?s test was performed (P=0.773, P=0,662), concludes that there was no correlation between polymorphism promoter gen IL-6-174G/C with severity of periodontitis."
Jakarta: Fakultas Kedokteran Gigi Universitas Indonesia, 2013
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UI - Skripsi Membership  Universitas Indonesia Library
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Muhammad Adnan Fanani
"Latar Belakang: Osteoporosis adalah penyakit yang ditandai oleh BMD yang rendah dan mikroarsitektur jaringan tulang yang memburuk akibat kerapuhan tulang yang meningkat dan kerentanan terhadap patah tulang. Beberapa faktor lingkungan dan genetik dianggap dapat berkontribusi terhadap terjadinya penyakit osteoporosis. Salah satu gen yang dapat mempengaruhi proses resorpsi tulang adalah gen LRP5 Gen LRP5 telah terbukti memainkan peran penting dalam biologi tulang. LRP5 adalah protein transmembran dan berfungsi sebagai co-receptor untuk protein Wnt. LRP5 diekspresikan dalam osteoblast dan mempengaruhi pembentukan tulang dengan mengubah Wnt signaling.
Tujuan: Penelitian ini bertujuan untuk melihat ada atau tidaknya polimorfisme dan perbedaan polimorfisme gen LRP5 Q89R pada wanita pascamenopause dengan osteoporosis.
Metode: 100 bahan biologis tersimpan (50 sampel wanita pascamenopause dengan osteoporosis dan 50 sampel individu sehat) dianalisa menggunakan teknik PCR-RFLP dengan enzim retriksi AvaII, selanjutnya data diuji secara statistik menggunakan uji Chi-square.
Hasil: Ditemukan banyak genotip QQ baik pada kelompok osteoporosis dan non-osteoporosis. Pada kelompok osteoporosis terdapat 93% genotip QQ dan 3% genotip QR dan tidak ditemukan genotip RR. Pada kelompok non-osteoporosis, terdapat 100% genotip QQ dan tidak ditemukan genotip QR dan RR.
Kesimpulan: Tidak terdapat perbedaan bermakna pada distribusi polimorfisme gen LRP5 Q89R antara penderita osteoporosis dengan kelompok non-osteoporosis (p = 0.105).

Background: Osteoporosis is a disease characterized by low bone mineral density (BMD) and deteriorating bone tissue microarchitecture due to increased bone fragility and susceptibility to fractures. Some environmental and genetic factors are considered to contribute to the occurrence of osteoporosis. One of the genes that can affect the bone resorption process is the LRP5 gene. The LRP5 gene has been shown to play an important role in bone biology. LRP5 is a transmembran protein and functions as a co-receptor for Wnt protein. LRP5 is expressed in osteoblasts and affects bone formation by changing Wnt signaling.
Objective: This research aims to look for genetic polymorphism and differentiate the distribution LRP5 Q89R gene polymorphism in postmenopausal woman with osteoporosis.
Methods: 100 stored biological samples (50 samples of postmenopausal woman with osteoporosis and 50 healthy control samples) were analyzed with PCR-RFLP technique using AvaII restriction enzyme, and subsequently assessed with statistical analysis using Chi-square test.
Result: QQ genotype was found with the highest amount in both samples. The postmenopausal group has 94% of GG genotype, 6% of QR genotype, and no RR genotype was found. The healthy control group has 100% of GG genotype and no QR and RR genotype was found. Based on Fisher-Extract test, there is no significant association between LRP5 Q89R and postmenopausal osteoporosis (p value = 0.105).
Conclusion: The genetic polymorphism of LRP5 Q89R in postmenopausal woman was found, but the polymorphism didnt have any association with osteoporosis in Indonesia populations."
Depok: Universitas Indonesia, 2018
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UI - Skripsi Membership  Universitas Indonesia Library
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