Ani Maskoen - Academia.edu (original) (raw)
Papers by Ani Maskoen
The Cleft Palate Craniofacial Journal
Objectives The interaction between genomics, genetic and environmental factors have been implicat... more Objectives The interaction between genomics, genetic and environmental factors have been implicated in non-syndromic orofacial cleft development. In the current study, we investigated the contributions of rare and novel genetic variants in known cleft genes using whole exome sequencing (WES) data of Indonesians with non-syndromic orofacial clefts. Design WES was conducted on 6 individuals. Variants in their exons were called and annotated. These variants were filtered for novelty and rarity using MAF of 0 and 1%. Setting Hospital in Indonesia. Patients/Participants Indonesians with non-syndromic orofacial clefts. Interventions Deleterious variants were prioritized. Pathogenic amino acid changes effect on protein structure and function were identified using HOPE. Main Outcome Measure(s) Rare and novel variants in known cleft genes were filtered and their deleteriousness were predicted using polyphen, SIFT and CADD. Results We identified rare (MAF <1%) deleterious variants in 4 cra...
Paediatrica Indonesiana, Jul 19, 2016
Egyptian Journal of Medical Human Genetics, 2015
Asian Journal of Medicine and Biomedicine, Oct 21, 2018
Cellular and Molecular Biology, Feb 28, 2017
Minerva Dental and Oral Science
Acta medica Indonesiana, Oct 1, 2022
Background: The blood level of rifampicin, one of the tuberculosis (TB) drugs, depends on the org... more Background: The blood level of rifampicin, one of the tuberculosis (TB) drugs, depends on the organic anion transporting polypeptide 1B1 (OATP1B1) in hepatocytes. This protein is encoded by the solute carrier organic anion 1B1 (SLCO1B1) gene. Its genetic variation has been reported to have an impact on clinical outcomes and drug efficacy. However, the polymorphism in the SLCO1B1 gene has not been examined in Indonesia yet. We aimed to identify the frequency of polymorphism in SLCO1B1 gene among pulmonary TB patients in Bandung, Indonesia. Methods: Cross-sectional study was conducted in West Java. 145 pulmonary TB patients who were treated with first-line drugs treatment (including rifampicin 450 mg daily) were analyzed for polymorphism in SLCO1B1 gene. Patients aged between 18-64 years old and mainly came from Sundanese ethnic group (92.4%). Genetic variants were detected using Polymerase Chain Reaction (PCR) and Sanger sequencing. Results: Polymorphism of c.463C>A(rs11045819) was not identified, while heterozygous and homozygous polymorphism of c.85-7793C>T(rs4149032) were identified in 74 (51.0%) and 56 (38.6%) patients, respectively. The minor allele frequency (MAF) of T (mutant) allele of c.85-7793C>T(rs4149032) was 64.13% (186/209), higher than in the general population, which the MAF of rs4149032 is 53.6% based on 1000 genome database. Conclusion: This study highlights the presence of different allele frequencies of polymorphisms within the population, which might affect treatment outcomes.
FK UNIVERSITAS TRISAKTI, 2013
BioMed Research International, 2021
Background Iron overload in severe β-thalassemia is a serious complication that occurs during the... more Background Iron overload in severe β-thalassemia is a serious complication that occurs during the course of the disease. Information about the iron status during initial illness with β-thalassemia major seemed to be limited. This study is aimed at analyzing iron status, serum hepcidin, and growth differentiation factor 15 (GDF15) levels in newly diagnosed β-thalassemia major. Methods A case-control study was performed at Dr. Hasan Sadikin General Hospital, which included 41 children with newly diagnosed β-thalassemia major. Age- and sex-matched controls were enrolled. The subjects had no blood transfusion, had normal liver function, and had no sign of inflammation. The groups were compared in terms of the levels of hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), serum hepcidin, and GDF15 as iron homeostasis parameters. Results Of the 41 newly diagnosed β-thalassemia major patients, those who were less than 24 months old had significantly lower median Hb levels tha...
Thalassaemia major is the most common monogenic diseases with the highest frequency in Indonesia.... more Thalassaemia major is the most common monogenic diseases with the highest frequency in Indonesia. According to Indonesian Thalassemia Foundation-The Parent Association of Thalassemia Patients (YTI-POPTI), West Java has the largest number of people with thalassemia which involves 1 751 out of 5 501 patients. Complex characteristic appearance with a wide spectrum in beta thalassaemia patients has resulted in the clinician’s difficulty in predicting prognosis. Accurate phenotype spectrum data are needed for predicting prognosis in the high risk West Java Province. This research is a descriptive quantitative study with a cross sectional design. One hundred and sixty consecutive samples of thalassemia patients was taken from two geographical areas of West Java Province. The spectrum of thalassemia was analysed with descriptive statistics for both characteristics and scoring parameters, which was developed by Thalassemia Research Center, Mahidol University. This scoring has six independen...
Indonesian Journal of Tropical and Infectious Disease, 2021
Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacteri... more Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacterial phagocytosis. Mycobacterium tuberculosis (Mtb) is intracellular pathogenic bacteria that is recognized by this receptor, and genetic variation of TLR-8 might alter susceptibility of the host towards pulmonary tuberculosis (PTB). This study aimed to determine whether TLR-8 gene polymorphisms were associated to PTB in Kupang, Indonesia. This case-control study compared demographic and clinical data between 115 PTB patients and 115 controls, then two TLR-8 single nucleotide polymorphisms (rs3764880 and rs3788935) were explored using the GoldenGate® Genotyping for VeraCode® / BeadXpress Illumina®. There is no significant difference between sex distribution of patient vs control groups. The polymorphisms (rs3764880 and rs3788935) are in Hardy-Weinberg Equilibrium in this population (p > 0.05). The distribution of major vs minor genotypes and alleles of TLR-8 polymorphisms in PTB patient...
Introduction. N-acetyltransferase 2 enzyme, encoded by NAT2 gene, plays a significant role in the... more Introduction. N-acetyltransferase 2 enzyme, encoded by NAT2 gene, plays a significant role in the metabolism of anti-tuberculosis drugs isoniazid (INH). Polymorphisms in NAT2 gene can determine the acetylator status of individual and this status can be classified into rapid, intermediate, or slow acetylator. Objective. To determine variations in the NAT2 gene using the GoldenGate Genotyping Assay for VeraCode/BeadXpress among population in Kupang, a region in the Eastern part of Indonesia with high prevalence of tuberculosis. Material and Methods. The GoldenGate Genotyping Assay for VeraCode/BeadXpress is a genotyper machine that can detect 48 to 384 single nucleotide polymorphisms. Here we used a panel of 48 SNP and 7 rs of the most important NAT2 SNP were proposed. Genomic DNA of 234 participants were recruited. This study was part of a study to identify genes related to susceptibility to tuberculosis in Kupang, Timor. Results. Of 234 DNA, 169 met the required concentration for th...
International Journal of Pharmacy and Pharmaceutical Sciences, 2016
Objective: We studied the effect of stromal derived factor-1 (SDF-1) and celecoxib for increasing... more Objective: We studied the effect of stromal derived factor-1 (SDF-1) and celecoxib for increasing the amount of neural stem cells in the lesion zone and clinical outcomes of spontaneous intracerebral hemorrhage. Methods: Twenty-eight rats, strain Wistar, divided into four groups: control, treated with celecoxib, SDF-1, and the combination of celecoxib+SDF-1. The neural stem cells identified by immunohistochemistry procedures with Nestin as primary antibodies and the levels of proliferation were assessed by Ki-67 as primary antibodies. The clinical outcomes were examined by Bederson scale. Results: This study revealed the combination treatment group had the highest histoscores of Nestin and highest of Ki-67 histoscores for SDF-1 group. The amount of neural stem cells in the lesion zone of treatments groups was higher than controls (p 0.05). The proliferation levels were higher in SDF-1 group (P 0.05). Conclusion: The results suggest celecoxib, SDF-1, and the combination of celecoxib+...
Universa Medicina, 2018
BackgroundIneffective erythropoiesis and multiple blood transfusions may cause iron overload, lea... more BackgroundIneffective erythropoiesis and multiple blood transfusions may cause iron overload, leading to high level of ferritin in â-thalassemia patients. Iron has the ability to catalyze the production of reactive oxygen species (ROS), which can be prevented by an adequate activity of superoxide dismutase (SOD) and glutathione peroxidase (GPx). The aim of this study was to explore the association between high ferritin levels and oxidative stress among â-thalassemia patients by measuring SOD and GPx levels.MethodsThis was a cross sectional study among â-thalassemia major patients. Ferritin, SOD, and GPx were measured and compared between â-thalassemia patients with homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations, which were the most prevalent mutations found in our previous study. The Spearman correlation test was used to analyze the data.ResultsThe ferritin levels in all â-thalassemia major patients were very high (range: 791-12,340 ìg/L). However, no significant differen...
BioMed Research International, 2021
Background. The development of factor VIII (FVIII) inhibitor in patients with hemophilia A (PWHA)... more Background. The development of factor VIII (FVIII) inhibitor in patients with hemophilia A (PWHA) is a great challenge for hemophilia care. Both genetic and environmental factors led to complications in PWHA. The development of inhibitory antibodies is usually induced by the immune response. Tumor necrosis factor α (TNF-α), one of the cytokines, might contribute to its polymorphism. In this study, we investigated the clinical factors, level of serum TNF-α, and polymorphism of c . − 308 G > A TNF − α gene in inhibitor development in severe PWHA. Methods. A cross-sectional study was conducted among all PWHA in West Java province. The clinical parameters, FVIII, FVIII inhibitor, and serum TNF-α level were assessed. The genotyping of − 380 G > A TNF-α gene polymorphism was performed using polymerase chain reaction and Sanger sequencing. Results. Among the 258 PWHA, 216 (83.7%) were identified as severe PWHA. The FVIII inhibitor was identified in 90/216 (41.6%) of severe PWHA, co...
European Journal of Dentistry
Understanding the fundamental principles of tooth movement could reduce the duration of treatment... more Understanding the fundamental principles of tooth movement could reduce the duration of treatment and achieve a stable outcome, resulting in patient satisfaction. Hyperbaric oxygen therapy was a modality in which a patient inhaled 100% O2 while subjected to high atmospheric pressure. Hyperbaric oxygen therapy facilitated the supply of oxygen to the human body's organs and tissues and served a variety of applications, including patient care and wound treatment. This review article aimed to describe animal studies of the potential effects of hyperbaric oxygen therapy in orthodontic therapy. It was conducted using a systematic literature review method, including searching PubMed and Google Scholar for publications relevant to the research topics. The search was filtered to include only research on orthodontic treatment and hyperbaric oxygen therapy and was published in any year. Articles that did not specify biological components of orthodontic tooth movement (OTM) were excluded. T...
The Open Dentistry Journal, 2021
Introduction: Pubertal growth stages are important periods in orthodontic treatment with function... more Introduction: Pubertal growth stages are important periods in orthodontic treatment with functional appliances and orthognathic surgery. Pubertal growth prediction, which determines the amount of growth that has taken place and estimates the remaining growth, can influence diagnosis, treatment goals, treatment plans, and orthodontic treatment outcomes, especially in cases requiring growth intensity or growth completion. Determination of pubertal growth stages is more accurate when performed using physiological maturation indicators than chronological age. There are several maturation indices that can be used to predict the pubertal growth stage, such as hand-wrist maturation, cervical vertebrae maturation index (CVMS), dental calcification, peak height velocity of body height (PHV), and menarche in females. The aim of this study was to identify the differences and correlation between hand-wrist, CVMS maturation stages, peak height velocity (PHV), canine and M2 calcification stages, ...
The Indonesian Biomedical Journal, Apr 29, 2018
ACKGROUND: N-acetyltransferase-2 (NAT2) enzyme, encoded by NAT2 gene, plays a key role in metabol... more ACKGROUND: N-acetyltransferase-2 (NAT2) enzyme, encoded by NAT2 gene, plays a key role in metabolism of anti-tuberculosis (TB) drug isoniazid. Polymorphisms in NAT2 gene may result in different responses to TB therapy. Since TB prevalence in the eastern part of Indonesia is high, the aim of this study is to explore the distribution of NAT2 gene polymorphisms among population from Kupang, Nusa Tenggara Timur. METHODS: A total of 234 respondents were included from Kupang in 2012. Polymorphisms of NAT2 gene were examined using mass screening platform and the genotypes distribution were presented in percentage. To confirm NAT2 gene polymorphisms, polymerase chain reaction (PCR)-sequencing was performed in a subset of population. RESULTS: The polymorphisms of NAT2 gene showed that the distribution of rs1801279 for GG genotype was 100%; whereas the genotype distribution of rs1799930 for GG, GA and AA was 57%, 35.1% and 7.9%, respectively. In a subset of individuals (n13), acetylator status was well determined by PCR-sequencing, resulting in individual with wild type fast acetylator (NAT2*4; n4), intermediate (NAT2*4/*5 or NAT2*4/*6 or NAT2*4/*7; n7) and poor acetylators (NAT2*6/*6 or NAT2*7/*7; n2). CONCLUSION: The amino acid change in rs1799930 result in intermediate and poor acetylator status in Kupang population. This may lead to suboptimal response of TB therapy. Assessing acetylator status before TB therapy is important and may serve as personalized INH therapy.
Indonesian Journal of Applied Sciences (IJAS), Apr 30, 2014
Faculty of Medicine and Health Sciences Universiti Putra Malaysia, 2013
The Cleft Palate Craniofacial Journal
Objectives The interaction between genomics, genetic and environmental factors have been implicat... more Objectives The interaction between genomics, genetic and environmental factors have been implicated in non-syndromic orofacial cleft development. In the current study, we investigated the contributions of rare and novel genetic variants in known cleft genes using whole exome sequencing (WES) data of Indonesians with non-syndromic orofacial clefts. Design WES was conducted on 6 individuals. Variants in their exons were called and annotated. These variants were filtered for novelty and rarity using MAF of 0 and 1%. Setting Hospital in Indonesia. Patients/Participants Indonesians with non-syndromic orofacial clefts. Interventions Deleterious variants were prioritized. Pathogenic amino acid changes effect on protein structure and function were identified using HOPE. Main Outcome Measure(s) Rare and novel variants in known cleft genes were filtered and their deleteriousness were predicted using polyphen, SIFT and CADD. Results We identified rare (MAF <1%) deleterious variants in 4 cra...
Paediatrica Indonesiana, Jul 19, 2016
Egyptian Journal of Medical Human Genetics, 2015
Asian Journal of Medicine and Biomedicine, Oct 21, 2018
Cellular and Molecular Biology, Feb 28, 2017
Minerva Dental and Oral Science
Acta medica Indonesiana, Oct 1, 2022
Background: The blood level of rifampicin, one of the tuberculosis (TB) drugs, depends on the org... more Background: The blood level of rifampicin, one of the tuberculosis (TB) drugs, depends on the organic anion transporting polypeptide 1B1 (OATP1B1) in hepatocytes. This protein is encoded by the solute carrier organic anion 1B1 (SLCO1B1) gene. Its genetic variation has been reported to have an impact on clinical outcomes and drug efficacy. However, the polymorphism in the SLCO1B1 gene has not been examined in Indonesia yet. We aimed to identify the frequency of polymorphism in SLCO1B1 gene among pulmonary TB patients in Bandung, Indonesia. Methods: Cross-sectional study was conducted in West Java. 145 pulmonary TB patients who were treated with first-line drugs treatment (including rifampicin 450 mg daily) were analyzed for polymorphism in SLCO1B1 gene. Patients aged between 18-64 years old and mainly came from Sundanese ethnic group (92.4%). Genetic variants were detected using Polymerase Chain Reaction (PCR) and Sanger sequencing. Results: Polymorphism of c.463C>A(rs11045819) was not identified, while heterozygous and homozygous polymorphism of c.85-7793C>T(rs4149032) were identified in 74 (51.0%) and 56 (38.6%) patients, respectively. The minor allele frequency (MAF) of T (mutant) allele of c.85-7793C>T(rs4149032) was 64.13% (186/209), higher than in the general population, which the MAF of rs4149032 is 53.6% based on 1000 genome database. Conclusion: This study highlights the presence of different allele frequencies of polymorphisms within the population, which might affect treatment outcomes.
FK UNIVERSITAS TRISAKTI, 2013
BioMed Research International, 2021
Background Iron overload in severe β-thalassemia is a serious complication that occurs during the... more Background Iron overload in severe β-thalassemia is a serious complication that occurs during the course of the disease. Information about the iron status during initial illness with β-thalassemia major seemed to be limited. This study is aimed at analyzing iron status, serum hepcidin, and growth differentiation factor 15 (GDF15) levels in newly diagnosed β-thalassemia major. Methods A case-control study was performed at Dr. Hasan Sadikin General Hospital, which included 41 children with newly diagnosed β-thalassemia major. Age- and sex-matched controls were enrolled. The subjects had no blood transfusion, had normal liver function, and had no sign of inflammation. The groups were compared in terms of the levels of hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), serum hepcidin, and GDF15 as iron homeostasis parameters. Results Of the 41 newly diagnosed β-thalassemia major patients, those who were less than 24 months old had significantly lower median Hb levels tha...
Thalassaemia major is the most common monogenic diseases with the highest frequency in Indonesia.... more Thalassaemia major is the most common monogenic diseases with the highest frequency in Indonesia. According to Indonesian Thalassemia Foundation-The Parent Association of Thalassemia Patients (YTI-POPTI), West Java has the largest number of people with thalassemia which involves 1 751 out of 5 501 patients. Complex characteristic appearance with a wide spectrum in beta thalassaemia patients has resulted in the clinician’s difficulty in predicting prognosis. Accurate phenotype spectrum data are needed for predicting prognosis in the high risk West Java Province. This research is a descriptive quantitative study with a cross sectional design. One hundred and sixty consecutive samples of thalassemia patients was taken from two geographical areas of West Java Province. The spectrum of thalassemia was analysed with descriptive statistics for both characteristics and scoring parameters, which was developed by Thalassemia Research Center, Mahidol University. This scoring has six independen...
Indonesian Journal of Tropical and Infectious Disease, 2021
Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacteri... more Toll-like receptor 8 (TLR-8) is known as part of intracellular signaling transduction for bacterial phagocytosis. Mycobacterium tuberculosis (Mtb) is intracellular pathogenic bacteria that is recognized by this receptor, and genetic variation of TLR-8 might alter susceptibility of the host towards pulmonary tuberculosis (PTB). This study aimed to determine whether TLR-8 gene polymorphisms were associated to PTB in Kupang, Indonesia. This case-control study compared demographic and clinical data between 115 PTB patients and 115 controls, then two TLR-8 single nucleotide polymorphisms (rs3764880 and rs3788935) were explored using the GoldenGate® Genotyping for VeraCode® / BeadXpress Illumina®. There is no significant difference between sex distribution of patient vs control groups. The polymorphisms (rs3764880 and rs3788935) are in Hardy-Weinberg Equilibrium in this population (p > 0.05). The distribution of major vs minor genotypes and alleles of TLR-8 polymorphisms in PTB patient...
Introduction. N-acetyltransferase 2 enzyme, encoded by NAT2 gene, plays a significant role in the... more Introduction. N-acetyltransferase 2 enzyme, encoded by NAT2 gene, plays a significant role in the metabolism of anti-tuberculosis drugs isoniazid (INH). Polymorphisms in NAT2 gene can determine the acetylator status of individual and this status can be classified into rapid, intermediate, or slow acetylator. Objective. To determine variations in the NAT2 gene using the GoldenGate Genotyping Assay for VeraCode/BeadXpress among population in Kupang, a region in the Eastern part of Indonesia with high prevalence of tuberculosis. Material and Methods. The GoldenGate Genotyping Assay for VeraCode/BeadXpress is a genotyper machine that can detect 48 to 384 single nucleotide polymorphisms. Here we used a panel of 48 SNP and 7 rs of the most important NAT2 SNP were proposed. Genomic DNA of 234 participants were recruited. This study was part of a study to identify genes related to susceptibility to tuberculosis in Kupang, Timor. Results. Of 234 DNA, 169 met the required concentration for th...
International Journal of Pharmacy and Pharmaceutical Sciences, 2016
Objective: We studied the effect of stromal derived factor-1 (SDF-1) and celecoxib for increasing... more Objective: We studied the effect of stromal derived factor-1 (SDF-1) and celecoxib for increasing the amount of neural stem cells in the lesion zone and clinical outcomes of spontaneous intracerebral hemorrhage. Methods: Twenty-eight rats, strain Wistar, divided into four groups: control, treated with celecoxib, SDF-1, and the combination of celecoxib+SDF-1. The neural stem cells identified by immunohistochemistry procedures with Nestin as primary antibodies and the levels of proliferation were assessed by Ki-67 as primary antibodies. The clinical outcomes were examined by Bederson scale. Results: This study revealed the combination treatment group had the highest histoscores of Nestin and highest of Ki-67 histoscores for SDF-1 group. The amount of neural stem cells in the lesion zone of treatments groups was higher than controls (p 0.05). The proliferation levels were higher in SDF-1 group (P 0.05). Conclusion: The results suggest celecoxib, SDF-1, and the combination of celecoxib+...
Universa Medicina, 2018
BackgroundIneffective erythropoiesis and multiple blood transfusions may cause iron overload, lea... more BackgroundIneffective erythropoiesis and multiple blood transfusions may cause iron overload, leading to high level of ferritin in â-thalassemia patients. Iron has the ability to catalyze the production of reactive oxygen species (ROS), which can be prevented by an adequate activity of superoxide dismutase (SOD) and glutathione peroxidase (GPx). The aim of this study was to explore the association between high ferritin levels and oxidative stress among â-thalassemia patients by measuring SOD and GPx levels.MethodsThis was a cross sectional study among â-thalassemia major patients. Ferritin, SOD, and GPx were measured and compared between â-thalassemia patients with homozygous IVS1nt5 and heterozygous IVS1nt5/HbE mutations, which were the most prevalent mutations found in our previous study. The Spearman correlation test was used to analyze the data.ResultsThe ferritin levels in all â-thalassemia major patients were very high (range: 791-12,340 ìg/L). However, no significant differen...
BioMed Research International, 2021
Background. The development of factor VIII (FVIII) inhibitor in patients with hemophilia A (PWHA)... more Background. The development of factor VIII (FVIII) inhibitor in patients with hemophilia A (PWHA) is a great challenge for hemophilia care. Both genetic and environmental factors led to complications in PWHA. The development of inhibitory antibodies is usually induced by the immune response. Tumor necrosis factor α (TNF-α), one of the cytokines, might contribute to its polymorphism. In this study, we investigated the clinical factors, level of serum TNF-α, and polymorphism of c . − 308 G > A TNF − α gene in inhibitor development in severe PWHA. Methods. A cross-sectional study was conducted among all PWHA in West Java province. The clinical parameters, FVIII, FVIII inhibitor, and serum TNF-α level were assessed. The genotyping of − 380 G > A TNF-α gene polymorphism was performed using polymerase chain reaction and Sanger sequencing. Results. Among the 258 PWHA, 216 (83.7%) were identified as severe PWHA. The FVIII inhibitor was identified in 90/216 (41.6%) of severe PWHA, co...
European Journal of Dentistry
Understanding the fundamental principles of tooth movement could reduce the duration of treatment... more Understanding the fundamental principles of tooth movement could reduce the duration of treatment and achieve a stable outcome, resulting in patient satisfaction. Hyperbaric oxygen therapy was a modality in which a patient inhaled 100% O2 while subjected to high atmospheric pressure. Hyperbaric oxygen therapy facilitated the supply of oxygen to the human body's organs and tissues and served a variety of applications, including patient care and wound treatment. This review article aimed to describe animal studies of the potential effects of hyperbaric oxygen therapy in orthodontic therapy. It was conducted using a systematic literature review method, including searching PubMed and Google Scholar for publications relevant to the research topics. The search was filtered to include only research on orthodontic treatment and hyperbaric oxygen therapy and was published in any year. Articles that did not specify biological components of orthodontic tooth movement (OTM) were excluded. T...
The Open Dentistry Journal, 2021
Introduction: Pubertal growth stages are important periods in orthodontic treatment with function... more Introduction: Pubertal growth stages are important periods in orthodontic treatment with functional appliances and orthognathic surgery. Pubertal growth prediction, which determines the amount of growth that has taken place and estimates the remaining growth, can influence diagnosis, treatment goals, treatment plans, and orthodontic treatment outcomes, especially in cases requiring growth intensity or growth completion. Determination of pubertal growth stages is more accurate when performed using physiological maturation indicators than chronological age. There are several maturation indices that can be used to predict the pubertal growth stage, such as hand-wrist maturation, cervical vertebrae maturation index (CVMS), dental calcification, peak height velocity of body height (PHV), and menarche in females. The aim of this study was to identify the differences and correlation between hand-wrist, CVMS maturation stages, peak height velocity (PHV), canine and M2 calcification stages, ...
The Indonesian Biomedical Journal, Apr 29, 2018
ACKGROUND: N-acetyltransferase-2 (NAT2) enzyme, encoded by NAT2 gene, plays a key role in metabol... more ACKGROUND: N-acetyltransferase-2 (NAT2) enzyme, encoded by NAT2 gene, plays a key role in metabolism of anti-tuberculosis (TB) drug isoniazid. Polymorphisms in NAT2 gene may result in different responses to TB therapy. Since TB prevalence in the eastern part of Indonesia is high, the aim of this study is to explore the distribution of NAT2 gene polymorphisms among population from Kupang, Nusa Tenggara Timur. METHODS: A total of 234 respondents were included from Kupang in 2012. Polymorphisms of NAT2 gene were examined using mass screening platform and the genotypes distribution were presented in percentage. To confirm NAT2 gene polymorphisms, polymerase chain reaction (PCR)-sequencing was performed in a subset of population. RESULTS: The polymorphisms of NAT2 gene showed that the distribution of rs1801279 for GG genotype was 100%; whereas the genotype distribution of rs1799930 for GG, GA and AA was 57%, 35.1% and 7.9%, respectively. In a subset of individuals (n13), acetylator status was well determined by PCR-sequencing, resulting in individual with wild type fast acetylator (NAT2*4; n4), intermediate (NAT2*4/*5 or NAT2*4/*6 or NAT2*4/*7; n7) and poor acetylators (NAT2*6/*6 or NAT2*7/*7; n2). CONCLUSION: The amino acid change in rs1799930 result in intermediate and poor acetylator status in Kupang population. This may lead to suboptimal response of TB therapy. Assessing acetylator status before TB therapy is important and may serve as personalized INH therapy.
Indonesian Journal of Applied Sciences (IJAS), Apr 30, 2014
Faculty of Medicine and Health Sciences Universiti Putra Malaysia, 2013