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"[ABSTRAK

Latar belakang: Tinggi badan/ perawakan tubuh merupakan parameter penting tingkat kesejahteraan suatu populasi. Perawakan tubuh dipengaruhi oleh faktor genetik, endokrin dan lingkungan. Faktor lingkungan yang saat ini paling sering ditemukan adalah faktor nutrisi. Populasi pigmi adalah suatu populasi terisolasi yang seluruh anggotanya pendek dan ditemukan di berbagai belahan dunia termasuk Indonesia, yaitu di Flores, Nusa Tenggara Timur yang disebut komunitas pigmi Rampasasa. Sampai saat ini belum ada penelitian yang dapat menemukan penyebab perawakan pendek komunitas pigmi tersebut.

Tujuan: Mengetahui profil antropometri manusia pigmi Rampasasa dan mencari berbagai faktor (genetik, endokrin, dan nutrisi) yang berperan dalam perawakan pendek komunitas pigmi tersebut sehingga diharapkan dapat berkontribusi dalam tatalaksana perawakan pendek pada umumnya.

Metode: Penelitian merupakan studi deskriptif analitik yang dilakukan pada periode Desember 2011-April 2014. Penelitian ini menggunakan desain potong lintang untuk mengetahui profil genetik dan non genetik (endokrin dan nutrisi) yang berperan dalam perawakan pendek manusia pigmi Rampasasa. Dilakukan pengukuran antropometri pada subjek dan pengambilan sampel darah. Analisis statistik dilakukan dengan uji ANOVA yang dilanjutkan dengan post hoc analysis. Analisis genetik dilakukan dengan mengirimkan isolasi DNA ke Laboratory for Diagnostic Genome Analysis (LDGA), Leiden, Belanda.

Hasil: Didapatkan data dari 58 subjek yang dikelompokkan menjadi pigmi murni (n=8), pigmi campuran (n=40), dan non pigmi (n=10). Seluruh subjek memiliki proposi tubuh yang normal. Tidak terdapat perbedaan bermakna untuk status nutrisi antara ketiga kelompok, yang dinyatakan dengan kadar kalsium (p=0,19), vitamin D (p=0,96), dan hemoglobin (p=0,147). Namun didapatkan perbedaan bermakna untuk kadar hormon IGF-1 antara ketiga kelompok (p=0,037), yang setelah dilakukan analisis posthoc menunjukkan perbedaan hanya pada kelompok non pigmi vs. pigmi murni (p=0,012). Kadar hormon IGFBP-3 tidak menunjukkan perbedaan bermakna antara ketiga kelompok (p=0,772). Analisis DNA menggunakan SNP array mengidentifikasi 10 regio homozigot pada sampel pigmi yang tidak didapatkan pada kontrol.

Simpulan: Perawakan pendek manusia pigmi Rampasasa memiliki proporsi tubuh yang normal. Faktor nutrisi tidak berhubungan dengan perawakan pendek komunitas pigmi Rampasasa. Faktor hormonal tidak dapat menjelaskan perawakan pendek populasi tersebut. Temuan regio homozigot mengindikasikan pengaruh faktor genetik meskipun kandidat gen belum dapat diidentifikasi.;

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ABSTRACT

Background: Height / stature of the body is an important parameter of one?s population wellbeing. Height is influenced by genetic, endocrine and environmental factors. Nutritional factor is one of the most common environmental factors found. Pygmy population is an isolated population whose all members have short stature. They are found in various parts of the world including Indonesia, namely Rampasasa pygmies community in Flores, East Nusa Tenggara. Up until this date, there are no studies about the etiology of Rampasasa pygmies short stature.

Objective: To learn about anthrophometric profiles in Rampasasa Pygmies and factors involved in the short stature of that pygmy community, as a contribution to the management of short stature in general, as well as to provide scientific asset about Rampasasa pygmies.

Keywords: calsium, genetic factors, height, IGFBP-3, IGF-I, nutrition, Rampasasa pygmies, short stature, vitamin D.

Methods: This research is a descriptive analytic study conducted from December 2011 to

April 2014. This study used a cross-sectional design to determine the genetic and non-

genetic profile (endocrine and nutrition) that play role in Rampasasa pygmies short

stature. Anthropometric measurements and blood sampling were performed. Statistical

analysis was performed by using ANOVA followed by post hoc analysis. Genetic

analysis is done by sending DNA isolation to Laboratory for Diagnostic Genome

Analysis (LDGA), Leiden, The Netherlands.

Results: Data obtained from 58 subjects were grouped into pure pygmies (n = 8), mixed

pygmy (n = 40), and non- pygmies (n = 10). All subjects had normal body proportions.

There were no significant difference in nutritional status between three groups, which is

expressed by calcium level (p = 0.19) , vitamin D (p = 0.96), and hemoglobin (p = 0.147).

Significant difference of IGF-1 hormone were found between the three groups (p =

0.037), which after posthoc analysis showed differences only between non-pygmies vs.

pure pygmies (p = 0.012). IGFBP-3 hormone level showed no significant difference

among the three groups (p = 0.772). We obtained evidence of homozygous regions in

DNA analysis using SNP arrays method, which are not found in control group.

Conclusion: Rampasasa pygmies have short stature with normal body proportion.

Nutritional factors are not associated with short stature of Rampasasa pygmy

communities. Hormonal factors can not explain the cause of the population short stature.

The discovery of homozygous regions indicates the role of genetic cause even though

there were no specific genes to be identified in this study.;Background: Height / stature of the body is an important parameter of one?s population wellbeing. Height is influenced by genetic, endocrine and environmental factors. Nutritional factor is one of the most common environmental factors found. Pygmy population is an isolated population whose all members have short stature. They are found in various parts of the world including Indonesia, namely Rampasasa pygmies community in Flores, East Nusa Tenggara. Up until this date, there are no studies about the etiology of Rampasasa pygmies short stature.

Objective: To learn about anthrophometric profiles in Rampasasa Pygmies and factors involved in the short stature of that pygmy community, as a contribution to the management of short stature in general, as well as to provide scientific asset about Rampasasa pygmies.

Keywords: calsium, genetic factors, height, IGFBP-3, IGF-I, nutrition, Rampasasa pygmies, short stature, vitamin D.

Methods: This research is a descriptive analytic study conducted from December 2011 to

April 2014. This study used a cross-sectional design to determine the genetic and non-

genetic profile (endocrine and nutrition) that play role in Rampasasa pygmies short

stature. Anthropometric measurements and blood sampling were performed. Statistical

analysis was performed by using ANOVA followed by post hoc analysis. Genetic

analysis is done by sending DNA isolation to Laboratory for Diagnostic Genome

Analysis (LDGA), Leiden, The Netherlands.

Results: Data obtained from 58 subjects were grouped into pure pygmies (n = 8), mixed

pygmy (n = 40), and non- pygmies (n = 10). All subjects had normal body proportions.

There were no significant difference in nutritional status between three groups, which is

expressed by calcium level (p = 0.19) , vitamin D (p = 0.96), and hemoglobin (p = 0.147).

Significant difference of IGF-1 hormone were found between the three groups (p =

0.037), which after posthoc analysis showed differences only between non-pygmies vs.

pure pygmies (p = 0.012). IGFBP-3 hormone level showed no significant difference

among the three groups (p = 0.772). We obtained evidence of homozygous regions in

DNA analysis using SNP arrays method, which are not found in control group.

Conclusion: Rampasasa pygmies have short stature with normal body proportion.

Nutritional factors are not associated with short stature of Rampasasa pygmy

communities. Hormonal factors can not explain the cause of the population short stature.

The discovery of homozygous regions indicates the role of genetic cause even though

there were no specific genes to be identified in this study., Background: Height / stature of the body is an important parameter of one’s population wellbeing. Height is influenced by genetic, endocrine and environmental factors. Nutritional factor is one of the most common environmental factors found. Pygmy population is an isolated population whose all members have short stature. They are found in various parts of the world including Indonesia, namely Rampasasa pygmies community in Flores, East Nusa Tenggara. Up until this date, there are no studies about the etiology of Rampasasa pygmies short stature.

Objective: To learn about anthrophometric profiles in Rampasasa Pygmies and factors involved in the short stature of that pygmy community, as a contribution to the management of short stature in general, as well as to provide scientific asset about Rampasasa pygmies.

Keywords: calsium, genetic factors, height, IGFBP-3, IGF-I, nutrition, Rampasasa pygmies, short stature, vitamin D.

Methods: This research is a descriptive analytic study conducted from December 2011 to

April 2014. This study used a cross-sectional design to determine the genetic and non-

genetic profile (endocrine and nutrition) that play role in Rampasasa pygmies short

stature. Anthropometric measurements and blood sampling were performed. Statistical

analysis was performed by using ANOVA followed by post hoc analysis. Genetic

analysis is done by sending DNA isolation to Laboratory for Diagnostic Genome

Analysis (LDGA), Leiden, The Netherlands.

Results: Data obtained from 58 subjects were grouped into pure pygmies (n = 8), mixed

pygmy (n = 40), and non- pygmies (n = 10). All subjects had normal body proportions.

There were no significant difference in nutritional status between three groups, which is

expressed by calcium level (p = 0.19) , vitamin D (p = 0.96), and hemoglobin (p = 0.147).

Significant difference of IGF-1 hormone were found between the three groups (p =

0.037), which after posthoc analysis showed differences only between non-pygmies vs.

pure pygmies (p = 0.012). IGFBP-3 hormone level showed no significant difference

among the three groups (p = 0.772). We obtained evidence of homozygous regions in

DNA analysis using SNP arrays method, which are not found in control group.

Conclusion: Rampasasa pygmies have short stature with normal body proportion.

Nutritional factors are not associated with short stature of Rampasasa pygmy

communities. Hormonal factors can not explain the cause of the population short stature.

The discovery of homozygous regions indicates the role of genetic cause even though

there were no specific genes to be identified in this study.]"

"Pendahuluan : Obesitas merupakan suatu kondisi adanya penumpukan lemak yang berlebihan atau abnormal. Obesitas dapat menimbulkan beberapa penyakit seperti diabetes mellitus, hipertensi, penyakit jantung koroner dan stroke. Beberapa studi mengaitkan antara konsumsi minuman mengandung alkohol dengan obesitas. Penelitian ini bertujuan untuk mengetahui hubungan konsumsi minuman bir dan faktor risiko lainya dengan prevalensi obesitas pada pekerja bagian penjualan sebuah perusahaan yang memproduksi dan menjual minuman bir. Metode penelitian : Penelitian ini menggunakan disain potong lintang dengan analisis perbandingan. Data primer diperoleh melalui pengukuran antopometri dan kwesioner sedangkan data sekunder diperoleh dari hasil pemeriksaan kesehatan berkala pada tahun 2014. Jumlah responden 51 orang yang diperoleh dengan menggunakan metode perhitungan sampel. Hasil penelitian : Dari 51 responden penelitian didapatkan prevalensi obesitas adalah 64,7 %. Terbukti adanya hubungan yang bermakna antara konsumsi minuman bir lebih dari 285 ml per hari dengan timbulnya obesitas dengan risiko 7 kali lebih besar terjadi obesitas dibandingkan dengan responden yang mengonsumi bir sama dengan dan kurang dari 285 ml perhari (p= 0,003; OR = 7,00 ; 95 % CI = 1,86-26,36). Faktor resiko utama dari prevalensi obesitas pada responden adalah faktor genetik (p=0,000; OR = 13,00; CI95%= 3,24-52,18).

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Introduction : Obesity is a complex disorder involving an excessive amount of body fat. It will increases the risk of diseases and health problems such as heart disease, diabetes and high blood pressure. Some study find that there are relation between alcohol consumption with obesity. This research objective is to determine the relation between beer consumption and other risk factor with obesity prevalence among Sales worker on the company that produce and sell beer.

Research methodology : This research are using cross?sectional with comparative method. The primary data are taken from weight and height measurement and questioner, the secondary data are taken from 2014 Medical Checkup. Total sample is 51.

Research result :Obesity prevalence is 64,7 %. There is correlation between beer consumption more than 285 ml per day with obesity and the risk is 7 times higher compare to respondent who consumed beer 285 ml per day and less ( p= 0,003; OR = 7,00 ; 95 % CI = 1,86-26,36).The main obesity risk factor is genetic Your browser security settings don't permit the editor to automatically execute copying operations. Please use the keyboard for that (p= 0,000 ; OR 13,00; CI95% =3,24-52,18"

"Sindrom koroner akut (SKA) merupakan masalah kesehatan nasional karena tingginya angka morbiditas dan mortalitas serta beban biaya yang dibutuhkan. Intervensi koroner perkutan (IKP) dan terapi antiplatelet seperti klopidogrel merupakan tata laksana yang direkomendasikan oleh organisasi kardiologi internasional. Meskipun demikian, pasien SKA masih dapat mengalami kejadian kardiovaskular mayor (KKM). Kemungkinan, resistensi klopidogrel berperan pada KKM sedangkan resistensi klopidogrel mungkin dipengaruhi oleh faktor genetik dan epigenetik. Penelitian ini bertujuan untuk mengetahui hubungan faktor genetik yaitu polimorfisme gen CYP2C19 dan P2Y12, serta epigenetik yaitu metilasi DNA gen CYP2C19 dan P2Y12 serta ekspresi miRNA-26a dengan resistensi klopidogrel dan pengaruhnya terhadap KKM pada pasien SKA pasca IKP.Untuk menganalisis hubungan faktor genetik dan epigenetik dengan resistensi klopidogrel, penelitian dilakukan dengan desain potong lintang, sedangkan untuk analisis hubungan faktor genetik dan epigenetik dengan KKM dilakukan dengan desain kohort prospektif. Subjek penelitian meliputi 201 pasien SKA pasca IKP dan mendapat terapi klopidogrel di Rumah Sakit Jantung dan Pembuluh Darah Harapan Kita dari bulan September 2018 sampai dengan Juni 2020. Resistensi klopidogrel ditentukan dengan pemeriksaan light transmission aggregometry (LTA) apabila hasilnya lebih besar dari 59% dengan agonis ADP 20 mM. Deteksi polimorfisme gen CYP2C19 dan P2Y12 serta ekspresi miRNA-26a dilakukan dengan metode qRT-PCR, sedangkan metilasi DNA gen CYP2C19 dan P2Y12 dikerjakan dengan metode konversi bisulfit. Pasien diobservasi selama satu tahun dan jika ada angina pektoris, infark miokard akut (IMA) rekuren, stroke, atau kematian, dicatat sebagai KKM.Dari 201 subjek, terdapat 45,8% carrier mutant polimorfisme *2 dan *3 gen CYP2C19, 36,8% carrier mutant polimorfisme rs3679479 gen P2Y12, 10% hipometilasi DNA gen P2Y12, 80,1% hipometilasi DNA gen CYP2C19, dan 66,2% ekspresi miRNA-26a up regulated. Proporsi resisten klopidogrel adalah 49,8% dan proporsi KKM adalah 14,9% (kematian 7,5%). Terdapat hubungan antara merokok (p = 0,001; OR 0,37 [IK 95%; 0,20–0,68]), hipometilasi DNA gen CYP2C19 (p = 0,037; OR 2,13 [IK 95%; 1,04–4,37]), dan ekspresi miRNA-26a up regulated (p = 0,020; OR 2,03 [IK 95%; 1,12–3,68]) dengan resistensi klopidogrel. Terdapat hubungan antara jenis kelamin perempuan (p = 0,040; HR 2,73 [IK 95%; 1,05–7,14]), usia ≥ 60 tahun (p = 0,035; HR 2,17 [IK 95%; 1,06–4,48]), eGFR rendah (p = 0,001; HR 3,29 [IK 95%; 1,59–6,84]), dan polimorfisme *2 dan *3 gen CYP2C19 (p = 0,047; HR 2,12 [IK 95%; 1,01–4,46]) dengan KKM dalam satu tahun.Hanya faktor epigenetik berupa metilasi DNA gen CYP2C19 dan ekspresi miRNA-26a yang berhubungan dengan resistensi klopidogrel. Walaupun resistensi klopidogrel tidak berhubungan dengan KKM, terdapat hubungan antara faktor genetik polimorfisme *2 dan *3 gen CYP2C19 dengan KKM.

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Acute coronary syndrome (ACS) is a national health problem due to high morbidity and mortality, and cost burden as well. Percutaneous coronary intervention (PCI) and antiplatelet therapy such as clopidogrel are recommended. However, ACS patients could still experience major adverse cardiovascular events (MACE). Clopidogrel resistance possibly plays a role in MACE whereas it may be affected by genetic and epigenetic factors. Therefore, the objective of this study was to determine the relationship between genetic factors which are CYP2C19 and P2Y12 polymorphisms, as well as epigenetic factors which are DNA methylation of CYP2C19 and P2Y12, and miRNA-26a expression and their effects on MACE in post-PCI patients.

To analyze the association between genetic and epigenetic factors and clopidogrel resistance, the study design was cross-sectional, while the study design of relationship between genetic and epigenetic factors and MACE was prospective cohort. The subjects were 201 post-PCI ACS patients who received clopidogrel therapy at Harapan Kita Hospital from September 2018 to June 2020. Clopidogrel resistance was determined by light transmission aggregometry (LTA) if the result was greater than 59% with agonist ADP 20 µM. The detection of CYP2C19 and P2Y12 gene polymorphisms and miRNA-26a expression were carried out by qRT-PCR method, while the DNA methylation of the CYP2C19 and P2Y12 genes were carried out by bisulfite conversion method. Patients were observed for one year and angina pectoris, recurrent acute myocardial infarction (AMI), stroke, or death, were recorded as MACE.

From 201 subjects, 45.8% were CYP2C19*2 and CYP2C19*3 polymorphism mutant carrier, 36.8% were rs3679479 P2Y12 polymorphism mutant carrier, 10% were hypomethylated of P2Y12, 80.1% were hypomethylated of CYP2C19, and 66.2% were up regulated in miRNA-26a expression. 49.8% of subjects were clopidogrel resistant and 14.9% of subjects experienced MACE (death was 7.5%). Smoking (p = 0.001; OR 0.37 [CI 95%; 0.20–0.68]), hypomethylated of CYP2C19 (p = 0.037; OR 2.13 [CI 95%; 1.04–4.37]), and up regulated miRNA-26a expression (p = 0.020; OR 2.03 [CI 95%; 1.12–3.68]) were associated with clopidogrel resistance. Female gender (p = 0.040; HR 2.73 [CI 95%; 1.05–7.14]), age over 60 years old (p = 0.035; HR 2.17 [CI 95%; 1.06–4.48]), low eGFR (p = 0.001; HR 3.29 [CI 95%; 1.59–6.84]), and CYP2C19*2 and CYP2C19*3 polymorphisms (p = 0.047; HR 2.12 [CI 95%; 1.01–4.46]) were associated with MACE in one year.

Only DNA methylation of CYP2C19 and miRNA-26a expression were associated with clopidogrel resistance. Although clopidogrel resistance was not associated with MACE, there was association between CYP2C19*2 and CYP2C19*3 polymorphisms and MACE."