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"Artemisinin-based Combination Theraphy (ACT) telah digunakan sebagai terapi utama untuk mengobati malaria falciparum tanpa komplikasi di Indonesia sejak 2004. Dihydroartemisinin-piperaquine (DHP) diangkat sebagai terapi utama untuk semua kasus malaria tanpa komplikasi sejak tahun 2016, termasuk kasus malaria vivax. Tujuan dari penelitian ini adalah untuk mengevaluasi polimorfisme nukleotida tunggal pada class domain propeller gen diantara kasus malaria tanpa komplikasi yang disebabkan Plasmodium vivax dari Provinsi Jambi dan Papua, Indonesia. IsolatP. vivax diambil dari April 2016 hingga April 2018. Melalui deteksi kasus aktif dan pasif malaria vivax tanpa komplikasi, sebanyak 41 isolat dari Provinsi Jambi dan 55 isolat dari Provinsi Papua terekrut pada penelitian ini. Domain propeller gen pvk12 diamplifikasi dengan metode nested PCR lalu disekuensing untuk mengevaluasi polimorfisme nukleotida tunggal. Hasil dari penelitian ini menunjukkan tidak ditemukan polimorfisme domain propeller pada kodon M448, T517, F519, I568, D605, D691, dan I708 dari seluruh isolat yang diteliti. Polimorfisme pada kodon S578Y dari domain propeller gen pvk12 ditemukan pada satu isolat dari Provinsi Jambi.

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Artemisinin-based combination therapy (ACT) has been adopted as first line therapy for uncomplicated falciparum malaria in Indonesia since 2004. Dihydroartemisininpiperaquine (DHP) has been adopted as first line therapy for all uncomplicated malaria cases in Indonesia since 2016.

The present study aims is to evaluate the single nucleotide polymorphisms in propeller domain gene among uncomplicated of Plasmodium in Jambi and Papua Provinces, Indonesia. The P. vivax isolates were collected from April 2016 to April 2018. A total of 41 P. vivax isolates from Jambi and 55 isolates from Papua were collected from uncomplicated vivax malaria cases enrolled through active and passive case detections. Amplification by nested PCR used to amplify gene propeller domain and sequencing is used to evaluate single nucleotide polymorphism.

The overall results indicated that no polymorphisms of propeller domain pvk12 gene at codon M448, T517, F519, I568, D605, D691, and I708 were observed in all isolates. Polymorphism at codon S578Y of propeller domain gene was found in one isolate from Jambi Province."

"[ABSTRAKLatar Belakang: Pada anak dengan penyakit jantung bawaan (PJB) yangmenjalani operasi jantung terbuka, sepsis merupakan salah satu komplikasipascaoperasi. Lama prosedur pintas jantung paru, usia, status gizi, timektomi, danvariasi genetik, seperti polimorfisme toll-like receptor (TLR) 2 dan tollinteractingprotein (TOLLIP) dapat memengaruhi respons imun. Informasimengenai peran faktor tersebut terhadap kejadian sepsis dan respons imunpascaoperasi jantung terbuka masih terbatas.Tujuan: Mengetahui peran polimorfisme TLR2, TOLLIP, dan faktor lainnyaterhadap kejadian sepsis dan respons imun pascaoperasi jantung terbuka untukmemperoleh strategi paling tepat dalam penanganan kasus bedah jantung padaanak.Metodologi: Studi longitudinal dengan non-probability consecutive samplingdilakukan pada anak <1 tahun yang menjalani operasi jantung terbuka.Pemeriksaan polimorfisme TLR2 Arg677Trp, TLR2 N199N, TOLLIP rs5743867,sel CD4 dan CD8 yang menyekresikan IFN-γ intraselular, sel Dendritik yangmengekspresikan TLR2, dan sel NK. Pasien menjalani operasi jantung terbuka.Setelah operasi, pasien dimonitor untuk menilai sepsis dan respons imunpascaoperasi.Hasil: Dari 108 subjek yang terlibat, 21,3% diantaranya mengalami sepsis.Seluruh subjek adalah mutan TLR2 Arg677Trp, 92,6% pasien adalah mutan TLR2N199N, dan 52,8% pasien adalah mutan TOLLIP rs5743867. Polimorfisme TLR2N199N dan timektomi total tidak diikutkan dalam model analisis multivariat.Polimorfisme TOLLIP rs5743867 (p = 0,358) menurunkan resiko sepsis, lamaprosedur pintas jantung paru ≥90 menit (p = 0,002), usia neonatus (p = 0,032), dangizi buruk (p = 0,558) meningkatkan risiko sepsis pascaoperasi. Jumlah responsimun bervariasi antara kategori, namun secara umum komponen respons imunlebih rendah pada pasien yang mengalami sepsis dibanding pada pasien yang tidakmengalami sepsis.Simpulan: Lama prosedur pintas jantung paru dan usia neonatus secara signifikanmemengaruhi risiko dan kecepatan sepsis pascaoperasi. Peran polimorfisme TLR2N199N dan TOLLIP rs5743867 terhadap kejadian sepsis dan respons imunpascaoperasi memerlukan studi komprehensif lebih lanjut.

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ABSTRACTBackground: Sepsis is one of the complications in children with congenital heartdefect who underwent open heart surgery. Cardiopulmonary bypass (CPB) time,age, nutritional status, thymectomy, and genetic variants, such as toll-like receptor(TLR) 2 and toll-interacting protein (TOLLIP) polymorphism affect immuneresponse. Information regarding those factors in the development of sepsis andimmune response after open heart surgery is still limited.Objectives: To understand the role of TLR 2 and TOLLIP polymorphism, as wellas other risk factors, in the development of sepsis and immune response followingopen heart surgery to develop the best strategy in open heart surgery in children.Methods: Longitudinal study with consecutive sampling were done in children <1year old who underwent open heart surgery. Blood sample was obtained to checkfor TLR2 Arg677Trp polymorphism, TLR2 N199N polymorphism, TOLLIPrs5743867 polymorphism, the numbers of intracellular interferon γ CD4 and CD8,TLR2 expression in Dendritic cells, and NK cells. Patient then underwent openheart surgery. Thymectomy was done as indicated and CPB time was recorded.After surgery, patient was monitored for signs of sepsis and immune response waschecked.Results: Out of 108 patients involved in this study, 21.3% developedpostoperative sepsis. TLR2 Arg677Trp polymorphism was found in all patients,TLR2 N199N polymorphism was found in 92.6% of the patients, and TOLLIPrs5743867 polymorphism was found in 52.8% of the patients. TLR2 N199Npolymorphism and thymectomy were not included in multivariate analysis.TOLLIP rs5743867 polymorphism (p = 0.358) reduced the risk of sepsis, CPBtime ≥90 menit (p = 0.002), neonates (p = 0.032), and severe malnutrition (p =0.558) increased the risk of postoperative sepsis. Immune response?s counts varyin each category, but were generally lower in patients who developedpostoperative sepsis.Conclusion: Cardiopulmonary bypass time and neonates significantly influencedthe risk and hazard of postoperative sepsis. Further investigation on the role ofTLR2 N199N and TOLLIP rs5743867 polymorphism are necessary to providemore comprehensive explanation on the development of postoperative sepsis andthe immune response after open heart surgery;Background: Sepsis is one of the complications in children with congenital heartdefect who underwent open heart surgery. Cardiopulmonary bypass (CPB) time,age, nutritional status, thymectomy, and genetic variants, such as toll-like receptor(TLR) 2 and toll-interacting protein (TOLLIP) polymorphism affect immuneresponse. Information regarding those factors in the development of sepsis andimmune response after open heart surgery is still limited.Objectives: To understand the role of TLR 2 and TOLLIP polymorphism, as wellas other risk factors, in the development of sepsis and immune response followingopen heart surgery to develop the best strategy in open heart surgery in children.Methods: Longitudinal study with consecutive sampling were done in children <1year old who underwent open heart surgery. Blood sample was obtained to checkfor TLR2 Arg677Trp polymorphism, TLR2 N199N polymorphism, TOLLIPrs5743867 polymorphism, the numbers of intracellular interferon γ CD4 and CD8,TLR2 expression in Dendritic cells, and NK cells. Patient then underwent openheart surgery. Thymectomy was done as indicated and CPB time was recorded.After surgery, patient was monitored for signs of sepsis and immune response waschecked.Results: Out of 108 patients involved in this study, 21.3% developedpostoperative sepsis. TLR2 Arg677Trp polymorphism was found in all patients,TLR2 N199N polymorphism was found in 92.6% of the patients, and TOLLIPrs5743867 polymorphism was found in 52.8% of the patients. TLR2 N199Npolymorphism and thymectomy were not included in multivariate analysis.TOLLIP rs5743867 polymorphism (p = 0.358) reduced the risk of sepsis, CPBtime ≥90 menit (p = 0.002), neonates (p = 0.032), and severe malnutrition (p =0.558) increased the risk of postoperative sepsis. Immune response?s counts varyin each category, but were generally lower in patients who developedpostoperative sepsis.Conclusion: Cardiopulmonary bypass time and neonates significantly influencedthe risk and hazard of postoperative sepsis. Further investigation on the role ofTLR2 N199N and TOLLIP rs5743867 polymorphism are necessary to providemore comprehensive explanation on the development of postoperative sepsis andthe immune response after open heart surgery;Background: Sepsis is one of the complications in children with congenital heartdefect who underwent open heart surgery. Cardiopulmonary bypass (CPB) time,age, nutritional status, thymectomy, and genetic variants, such as toll-like receptor(TLR) 2 and toll-interacting protein (TOLLIP) polymorphism affect immuneresponse. Information regarding those factors in the development of sepsis andimmune response after open heart surgery is still limited.Objectives: To understand the role of TLR 2 and TOLLIP polymorphism, as wellas other risk factors, in the development of sepsis and immune response followingopen heart surgery to develop the best strategy in open heart surgery in children.Methods: Longitudinal study with consecutive sampling were done in children <1year old who underwent open heart surgery. Blood sample was obtained to checkfor TLR2 Arg677Trp polymorphism, TLR2 N199N polymorphism, TOLLIPrs5743867 polymorphism, the numbers of intracellular interferon γ CD4 and CD8,TLR2 expression in Dendritic cells, and NK cells. Patient then underwent openheart surgery. Thymectomy was done as indicated and CPB time was recorded.After surgery, patient was monitored for signs of sepsis and immune response waschecked.Results: Out of 108 patients involved in this study, 21.3% developedpostoperative sepsis. TLR2 Arg677Trp polymorphism was found in all patients,TLR2 N199N polymorphism was found in 92.6% of the patients, and TOLLIPrs5743867 polymorphism was found in 52.8% of the patients. TLR2 N199Npolymorphism and thymectomy were not included in multivariate analysis.TOLLIP rs5743867 polymorphism (p = 0.358) reduced the risk of sepsis, CPBtime ≥90 menit (p = 0.002), neonates (p = 0.032), and severe malnutrition (p =0.558) increased the risk of postoperative sepsis. Immune response?s counts varyin each category, but were generally lower in patients who developedpostoperative sepsis.Conclusion: Cardiopulmonary bypass time and neonates significantly influencedthe risk and hazard of postoperative sepsis. Further investigation on the role ofTLR2 N199N and TOLLIP rs5743867 polymorphism are necessary to providemore comprehensive explanation on the development of postoperative sepsis andthe immune response after open heart surgery;Background: Sepsis is one of the complications in children with congenital heartdefect who underwent open heart surgery. Cardiopulmonary bypass (CPB) time,age, nutritional status, thymectomy, and genetic variants, such as toll-like receptor(TLR) 2 and toll-interacting protein (TOLLIP) polymorphism affect immuneresponse. Information regarding those factors in the development of sepsis andimmune response after open heart surgery is still limited.Objectives: To understand the role of TLR 2 and TOLLIP polymorphism, as wellas other risk factors, in the development of sepsis and immune response followingopen heart surgery to develop the best strategy in open heart surgery in children.Methods: Longitudinal study with consecutive sampling were done in children <1year old who underwent open heart surgery. Blood sample was obtained to checkfor TLR2 Arg677Trp polymorphism, TLR2 N199N polymorphism, TOLLIPrs5743867 polymorphism, the numbers of intracellular interferon γ CD4 and CD8,TLR2 expression in Dendritic cells, and NK cells. Patient then underwent openheart surgery. Thymectomy was done as indicated and CPB time was recorded.After surgery, patient was monitored for signs of sepsis and immune response waschecked.Results: Out of 108 patients involved in this study, 21.3% developedpostoperative sepsis. TLR2 Arg677Trp polymorphism was found in all patients,TLR2 N199N polymorphism was found in 92.6% of the patients, and TOLLIPrs5743867 polymorphism was found in 52.8% of the patients. TLR2 N199Npolymorphism and thymectomy were not included in multivariate analysis.TOLLIP rs5743867 polymorphism (p = 0.358) reduced the risk of sepsis, CPBtime ≥90 menit (p = 0.002), neonates (p = 0.032), and severe malnutrition (p =0.558) increased the risk of postoperative sepsis. Immune response?s counts varyin each category, but were generally lower in patients who developedpostoperative sepsis.Conclusion: Cardiopulmonary bypass time and neonates significantly influencedthe risk and hazard of postoperative sepsis. Further investigation on the role ofTLR2 N199N and TOLLIP rs5743867 polymorphism are necessary to providemore comprehensive explanation on the development of postoperative sepsis andthe immune response after open heart surgery, Background: Sepsis is one of the complications in children with congenital heartdefect who underwent open heart surgery. Cardiopulmonary bypass (CPB) time,age, nutritional status, thymectomy, and genetic variants, such as toll-like receptor(TLR) 2 and toll-interacting protein (TOLLIP) polymorphism affect immuneresponse. Information regarding those factors in the development of sepsis andimmune response after open heart surgery is still limited.Objectives: To understand the role of TLR 2 and TOLLIP polymorphism, as wellas other risk factors, in the development of sepsis and immune response followingopen heart surgery to develop the best strategy in open heart surgery in children.Methods: Longitudinal study with consecutive sampling were done in children <1year old who underwent open heart surgery. Blood sample was obtained to checkfor TLR2 Arg677Trp polymorphism, TLR2 N199N polymorphism, TOLLIPrs5743867 polymorphism, the numbers of intracellular interferon γ CD4 and CD8,TLR2 expression in Dendritic cells, and NK cells. Patient then underwent openheart surgery. Thymectomy was done as indicated and CPB time was recorded.After surgery, patient was monitored for signs of sepsis and immune response waschecked.Results: Out of 108 patients involved in this study, 21.3% developedpostoperative sepsis. TLR2 Arg677Trp polymorphism was found in all patients,TLR2 N199N polymorphism was found in 92.6% of the patients, and TOLLIPrs5743867 polymorphism was found in 52.8% of the patients. TLR2 N199Npolymorphism and thymectomy were not included in multivariate analysis.TOLLIP rs5743867 polymorphism (p = 0.358) reduced the risk of sepsis, CPBtime ≥90 menit (p = 0.002), neonates (p = 0.032), and severe malnutrition (p =0.558) increased the risk of postoperative sepsis. Immune response’s counts varyin each category, but were generally lower in patients who developedpostoperative sepsis.Conclusion: Cardiopulmonary bypass time and neonates significantly influencedthe risk and hazard of postoperative sepsis. Further investigation on the role ofTLR2 N199N and TOLLIP rs5743867 polymorphism are necessary to providemore comprehensive explanation on the development of postoperative sepsis andthe immune response after open heart surgery]"

"[ABSTRAKPenelitian ini bertujuan untuk menganalisis distribusi pola polimorfisme gen LEPG-2548A pada pasien dengan dan tanpa osteoporosis. Seratus sampel terdiri daripasien dengan osteoporosis (50 sampel) dan pasien tanpa osteoporosis (50sampel). Polimorfisme gen LEP G-2548A dianalisis menggunakan metode PCRRFLP.Perhitungan distribusi genotip dan alel pada kedua kelompokmenggunakan uji Fisher. Frekuensi alel A dan genotip AA gen LEP G-2548Apada pasien osteoporosis berisiko meningkat dibandingkan pada pasien tanpaosteoporosis. Genotip LEP G-2548A pada pasien dengan dan tanpa osteoporosismemiliki hubungan tidak berbeda bermakna (p = 0,191). Distribusi polapolimorfisme gen LEP G-2548A berisiko meningkat pada pasien denganosteoporosisABSTRACTThe aim of this study was to analyzed pattern distribution polymorphism LEP G-2548A in patient with and without osteoporosis.One hundred samples consist ofpatient with and without osteoporosis.Genetic polymorhism LEP G-2548A wereanalyzed by PCR-RFLP methods.The calculation of the distribution of genotypesand alleles in both groups using Fisher test.The frequency of A allele and AAgenotype LEP G-2548A gene presented increased risk in patient withosteoporosis.Statistical analysis of LEP G-2548A gene using fisher test betweenpatient with and without osteoporosis showed no significant differences(p=0,191).Distribution of leptin gene G-2548A polymorphism pattern presentedincreased risk in patient with osteoporosis;The aim of this study was to analyzed pattern distribution polymorphism LEP G-2548A in patient with and without osteoporosis.One hundred samples consist ofpatient with and without osteoporosis.Genetic polymorhism LEP G-2548A wereanalyzed by PCR-RFLP methods.The calculation of the distribution of genotypesand alleles in both groups using Fisher test.The frequency of A allele and AAgenotype LEP G-2548A gene presented increased risk in patient withosteoporosis.Statistical analysis of LEP G-2548A gene using fisher test betweenpatient with and without osteoporosis showed no significant differences(p=0,191).Distribution of leptin gene G-2548A polymorphism pattern presentedincreased risk in patient with osteoporosis, The aim of this study was to analyzed pattern distribution polymorphism LEP G-2548A in patient with and without osteoporosis.One hundred samples consist ofpatient with and without osteoporosis.Genetic polymorhism LEP G-2548A wereanalyzed by PCR-RFLP methods.The calculation of the distribution of genotypesand alleles in both groups using Fisher test.The frequency of A allele and AAgenotype LEP G-2548A gene presented increased risk in patient withosteoporosis.Statistical analysis of LEP G-2548A gene using fisher test betweenpatient with and without osteoporosis showed no significant differences(p=0,191).Distribution of leptin gene G-2548A polymorphism pattern presentedincreased risk in patient with osteoporosis]"

"Osteoporosis dapat disebabkan oleh faktor genetik, salah satunya yaitu gen LEPR. Penelitian ini bertujuan menganalisis polimorfisme gen leptin reseptor (LEPR) Q223R pada pasien dengan dan tanpa osteoporosis. Sampel dibagi dua kelompok yaitu pasien dengan osteoporosis dan tanpa osteoporosis. Polimorfisme genotip di analisis menggunakan Polymerase Chain Reaction (PCR) - Restriction Fragment Length Polymorphisms (RFLP). Distribusi pola genotip AA dan alel A LEPR Q223R menunjukkan peningkatan risiko osteoporosis. Analisis statistik dengan uji fisher exact antara pasien dengan osteoporosis dan tanpa osteoporosis menunjukkan perbedaan bermakna pada genotip (p=0.044) dan alel (p<0.05). Distribusi pola polimorfisme gen LEPR Q223R berisiko meningkat pada pasien dengan osteoporosis.

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Osteoporosis caused by genetic factor, one of which is LEPR gene. This study analyzed polymorphism leptin receptor (LEPR) Q223R in patient with and without osteoporosis. Samples were divided into two group, with osteoporosis and without osteoporosis. The polymorphism were genotyped using Polymerase Chain Reaction (PCR) ? Restriction Fragment Length Polymorphisms (RFLP) analysis. Mapping distribution of AA genotype and A Allele for LEPR Q223R presented an increased risk of osteoporosis. Statistic analysis of fisher exact test between patient with and without osteoporosis showed significant differences of genotype (p=0,044) and allele (p<0,05). Mapping distribution of polymorphism LEPR Q223R an increased risk of osteoporosis."

"Latar Belakang : Single nucleotide polymorphism SNP gen TNF-? terbukti dapat meningkatkan kerentanan berbagai penyakit inflamasi termasuk periodontitis.Tujuan : Penelitian ini bertujuan untuk melihat perbedaan distribusi polimorfisme gen TNF-? -308 G/A pada penyakit periodontitis dan individu sehat.Metode: 100 bahan biologi tersimpan 50 sampel periodontitis dan 50 sampel kontrol dianalisa menggunakan teknik PCR-RFLP dengan enzim restriksi NcoI.Hasil : Genotip AA tidak ditemukan dan genotip GG ditemukan dengan jumlah terbanyak pada kelompok kontrol dan periodontitis. Genotip dan alel polimorfik ditemukan lebih banyak pada kelompok periodontitis 22 dan 11 dibandingkan kelompok kontrol 8 dan 11 . Hasil uji Fisher`s Exact menghasilkan p value=0.091.Kesimpulan : Terdapat polimorfisme gen TNF-? -308 G/A pada penderita periodontitis namun tidak terdapat perbedaan bermakna pada distribusi polimorfisme antara penyakit periodontitis dan individu sehat di populasi Indonesia p>0.05.

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Background : Single nucleotide polymorphism SNP in TNF gene has been associated with several inflammatory diseases including periodontitis.

Purpose : This study aimed to discover the difference of TNF 308 G A gene polymorphism distribution in periodontitis and healthy controls.

Methods : 100 stored samples of from 50 periodontitis male patients and 50 controls were analyzed using PCR RFLP technique with NcoI restriction enzyme and subsequently assessed with statistical analysis using Fisher's Exact test.

Results : AA genotype was absent and GG genotype was found with the highest amount in both sample. Polymorphic genotype and alelle were found higher in periodontitis sample 22 and 11 than healthy controls 8 and 11. Using fisher exact test, it was found p value 0.091.

Conclusion : No significant difference of TNF 308 G A SNP distribution was found between periodontitis and controls in Indonesian population p 0.05."

"ABSTRAKLatar belakang: Pada semua sindrom epilepsi, epilepsi lobus temporal ELT memiliki kemungkinan paling besar untuk menjadi resisten terhadap obat.Polimorfisme gen multidrug resistant-1 MDR1 C3435T dicurigai sebagai salahsatu penyebabnya. Di RS Cipto Mangunkusumo RSCM , sebagai pusat rujukannasional, prevalensi ELT potensial resisten obat adalah 84.51 dan duapertiganya dalam terapi karbamazepin KBZ .Tujuan: Mengetahui polimorfisme dan ekspresi gen MDR1 C3435T serta kadarplasma KBZ pada penderita epilepsi yang responsif dan resisten terhadap obat.Metode: Penelitian potong lintang komparatif dilakukan di RSCM dari Juni 2015sampai Desember 2016. Penderita ELT dipilih secara konsekutif. Kelompokkontrol terdiri dari subjek sehat tanpa riwayat epilepsi. Identifikasi genotipemenggunakan teknik restriction Fragment Length Polymorphism PCR denganenzim restriksi Mbo1. Pemeriksaan kadar plasma KBZ menggunakan HighPerformance Liquid Chromatography. Ekspresi mRNA dengan metodesequencing and real time quantitative PCR.Hasil: Didapatkan 61 subjek dan 25 kontrol. Sebaran genotipe TT 71,43 danalel T genotipe CT dan TT lebih tinggi pada grup resisten x= 10,41; p =0,001 . Terdapat korelasi sangat kuat antara dosis dan kadar plasma KBZ padagrup responsif r = 0,75; p = 0,000 dengan rerata dosis 405,21 226,50mg dankadar plasma 7,59 2,32mcg/mL. Ekspresi kuantitatif relatif Rq mRNA palingtinggi pada grup kontrol diikuti resisten dan responsif. Genotipe TT menunjukkanRq yang berbeda pada tiap grup. Terdapat perbedaan bermakna antara dosis dankadar plasma KBZ pada masing-masing genotipe tiap grup, terutama antaragenotipe CT reponsif dengan semua genotipe grup resisten.Kesimpulan: Genotipe TT dan alel T MDR1 C3435T secara statistik berhubungandengan dosis dan kadar plasma KBZ yang lebih tinggi pada ELT resisten obat.

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ABSTRACTBackground Among epilepsy syndrome, temporal lobe epilepsy TLE has thehighest probability to become drug resistant. Multidrug resistant 1 MDR1 C3435T polymorphism was suspected to be one of the caused. In CiptoMangunkusumo hospital RSCM , as the national reference hospital, potentialdrug resistant epilepsy prevalence was 84.51 and carbamazepine CBZ usagein two third of the patients.Objective This study was performed to learn about MDR1 C3435T polymorphismand expressions, and CBZ plasma concentration in drug responsive and resistanttemporal lobe epilepsy patients.Methods A comparative cross sectional study was performed in RSCM. TLEpatients were selected consecutively. Healthy people were also selected as thecontrol group. Restriction Fragment Length Polymorphism PCR technique withMbo1 restriction enzyme was used to identify the genes. High Performance LiquidChromatography method was used to determine CBZ concentration in plasma.mRNA expressions identification were using sequencing and real timequantitative PCR methods.Result There were 61 subjects in study group and 25 in control group. Frequencyof TT genotype 71.43 and T allele CT and TT genotype were higher inresistant one x2 10.41, p 0.001 . There was a very strong correlationsbetween CBZ plasma concentration in drug responsive epilepsy r 0.75, p 0.000 in mean dosage of 405,21 226,50mg and plasma concentration of 7,59 2,32mcg mL. mRNA expressions were highest in control group followed byresistant and responsive ones. TT genotype expression was relatively different ineach group. There were signifant differences between genotype in each groupwith CBZ dosage and plasma concentration, especially in CT responsivecompare to all genotypes in resistant group.Conclusion TT genotype and T allele of MDR1 C3435T statistically associatedwith higher CBZ dosage and plasma concentration in drug resistant TLE patients."

"Latar Belakang: Orofacial cleft merupakan ruang abnormal kongenital yang terjadi pada bibir atas, tulang alveolar, dan palatum. Orofacial cleft terdiri dari berbagai jenis yaitu, celah bibir, celah palatum, dan celah bibir dan palatum. Orofacial cleft adalah anomali kongenital yang dapat disebabkan oleh faktor genetik maupun faktor lingkungan. Belakangan ini penelitian menunjukkan bahwa beberapa gen terlibat dalam penyebab terjadinya orofacial cleft, salah satunya adalah gen BMP4. Terdapat penelitian yang menunjukkan hubungan antara polimorfisme nukleotida tunggal gen BMP4 T538C dengan terjadinya orofacial cleft di populasi Cina. Tujuan: Mengetahui hubungan antara polimorfisme gen BMP4 T538C dengan penderita orofacial cleft di Indonesia. Metode: Analisis polimorfisme gen BMP4 T538C dilakukan dengan metode PCR-RFLP dengan enzim restriksi Hph1. Hasil: Dari 100 sampelg yaitu, 25 sampel orofacial cleft dan 75 sampel non orofacial cleft, ditemukan 25 sampel orofacial cleft memiliki genotip CC (100%) sedangkan pada kelompok non orofacial cleft ditemukan 11 sampel memiliki genotip CC (14.7%), 55 sampel memiliki genotip CT (73.3%), dan 9 sampel memiliki genotip TT (12%). Seluruh sampel orofacial cleft memiliki alel C sedangkan pada kelompok non orofacial cleft 77 sampel memiliki alel C (51.3%) dan 73 sampel memiliki alel T (48.7%). Kesimpulan: Terdapat perbedaan bermakna pada distribusi genotip dan alel gen BMP4 T538C antara penderita orofacial cleft dan non orofacial cleft (p value genotip dan alel = 0.001).

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Background: Orofacial cleft is a congenital abnormal space or gap in the upper lip, lveolar bone, or palate. There are many types of orofacial cleft, such as, cleft lip, cleft alate, and cleft lip and palate. Orofacial cleft is congenital anomalies that often appened. Orofacial cleft caused by many factor, such as, genetic and environment. ecent studies showed that several genes could affect orofacial cleft, such as, BMP4 ene. There was study that showed association between single nucleotide polymorphism f BMP4 gene T538C with orofacial cleft in Chinese population.

Objective: To escribe the correlation between BMP4 T538C polymorphism and orofacial cleft in" "ndonesia.

Methods: Analysis of BMP4 T538C gene polymorphism was performed by CR-RFLP methods with Hph1 restriction enzyme.

Results: From 100 samples that onsist of 25 orofacial cleft samples and 75 non orofacial cleft samples, 25 samples of rofacial cleft showed genotype CC (100%) while in non orofacial cleft samples, 11 amples showed genotype CC (14.7%), 55 samples showed genotype CT (73.3%), and 9 samples showed genotype TT (12%). All of orofacial cleft samples showed C allele hile in non orofacial cleft samples were found 77 allel C (51.3%) and 73 allele T" "48.7%).

Conclusion: There were significance differences between orofacial cleft and on orofacial cleft samples, both in genotype and allele distribution of BMP4 T538C ene polymorphism (p value for both genotype and allele = 0.001)."

"Gen P53 atau TP53 merupakan gen yang memicu pembentukan protein tumor p53 yang berfungsi sebagai tumor suppressor. Polimorfisme genetik p53 berpengaruh terhadap erjadinya kanker kepala dan leher (KKL). Penelitian ini bertujuan untuk mengidentifikasi keterkaitan antara polimorfisme gen p53 dengan kanker kepala dan leher di Indonesia. Analisis dengan PCR-RFLP (enzim BstUI) pada 50 sampel penderita KKL dan 50 sampel non KKL untuk melihat polimorfisme gen p53. Persentase distribusi genotip polimorfisme P53 pada sampel KKL sebesar 70% dan pada sampel non KKL sebesar 58%. Terdapat perbedaan bermakna pada distribusi genotip polimorfisme gen p53 antara penderita KKL dengan non KKL (p value = 0.004).

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The gene P53 or TP53 is a gene that targets the formation of p53 tumor protein that functions as a tumor suppressor. Genetic polymorphism of p53 gene has been associated with the development of head and neck cancer. This study aims to identify the relationship between p53 gene polymorphism with head and neck cancer in Indonesia. Analysis with PCR-RFLP (BstUI enzyme) in 50 samples of head and neck cancer patients and 50 control samples to see p53 gene polymorphism. The percentage of polymorphic genotype in HNC samples is 70% and in non HNC is 58%. There are significant differences in the genotype distribution of p53 gene polymorphisms between HNC patients and non-HNC patients (p value = 0.004)."

"Salah satu penyebab hiperbilirubinemia tidak terkonjugasi pada neonatus adalah polimorfisme Gly71Arg gen UGT1A1 yang dapat menurunkan aktivitas enzim UDP Glukoronosil Transferase UGT , sehingga angka kejadiannya cukup tinggi pada neonatus hiperbilirubinemia di daerah Asia Timur. Penelitian ini bertujuan untuk mengetahui profil polimorfisme Gly71Arg di Indonesia pada populasi ras heterogen yang termasuk bagian Asia tenggara dengan menggunakan sampel pasien neonatus yang dirawat di Rumah Sakit Cipto Mangunkusumo sebanyak 42 sampel yang lahir pada periode Januari ndash; April 2017. Data sampel neonatus berupa total serum bilirubin diperoleh dari rekam medik serta penelusuran ras orang tua pasien neonatus melalui wawancara. Analisis dilakukan menggunakan metode Polymerase Chain Reaction ndash; Restriction Fragment Length Polymorphism PCR-RFLP dengan enzim AvaII sebagai enzim restriksi. Dari 42 sampel yang dianalisis, 95,24 memiliki genotip G/G wild type dan 4,76 memiliki genotip G/A heterozigot. Tidak ditemukan satu pun sampel yang memiliki polimorfisme Gly71Arg genotip A/A homozigot. Terdapat pengaruh perbedaan intraetnik pada kelompok etnik tertentu terhadap polimorfisme Gly71Arg yaitu pada ras Betawi yang mendominasi kejadian heterozigot. Polimorfisme Gly71Arg secara keseluruhan mungkin tidak memengaruhi angka kejadian hiperbilirubinemia tidak terkonjugasi pada populasi di Indonesia tetapi mungkin dipengaruhi oleh mutasi pada ekson 1 di situs lain atau mutasi pada promotor.

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One of the risk factor of unconjugated hyperbilirubinemia in neonates is Gly71Arg polymorphism of UGT1A1 gene that can lead to reduced UDP Glucuronosyl Transferase UGT enzyme activity, so it has high incidence among neonates in East Asian population. The aim of this study, was to identify Gly71Arg polymorphism profile in Indonesia in the heterogeneous race population which is part of Southeast Asia, and 42 sample of neonates who were born in January ndash April 2017 that treated in Rumah Sakit Cipto Mangunkusumo were used. Neonatal sample data which is total serum bilirubin were obtained from medical records and tracing naonates parents race through interview. The analysis used was Polymerase Chain Reaction ndash Restriction Fragment Length Polymorphism PCR RFLP method with AvaII enzyme as restriction enzyme. From 42 samples that were analysed, 95,24 were found as G G genotype wild type, while 4,76 were G A genotype heterozygous. None of the sample has Gly71Arg polymorphism A A genotype homozygous. There is an influence of intra ethnic differences in certain ethnic groups against Gly71Arg polymorphisms, which is in the Betawi race that dominates heterozygous events. Overall, Gly71Arg polymorphism may not affect incidence of unconjugated hyperbilirubinemia in Indonesia population, yet may be affected by mutation in other site of exon 1 or mutation in promoter."

"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.

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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."