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Pulungan, Aman Bhakti
Abstrak :
[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.;
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.]
2015
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UI - Disertasi Membership  Universitas Indonesia Library
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Salsabila Hanoum Nurifai
Abstrak :
Latar Belakang: Dalam rangka mengembangkan terapi alternatif rekonstruksi tulang alveolar pada celah bibir dan palatum (CLP), teknologi rekayasa jaringan menjadi alternatif yang menjanjikan dengan menggunakan komponen sel stromal dan faktor pertumbuhan. Penelitian terbaru mengenai DPSC pada pasien CLP menghasilkan penyembuhan tulang yang memuaskan. Selain itu, ditemukan ekspresi berlebih dari IGF-1 pada DPSC pasien CLP. AKT dan MTOR merupakan downstream dari jalur pensinyalan IGF-1. AKT memiliki peran sebagai pengatur kelangsungan hidup dan proliferasi sel. Pensinyalan MTOR mengatur transkripsi gen dan sintesis protein untuk mengatur proliferasi sel dan diferensiasi sel. Namun, karakteristik DPSC subjek normal dan pasien celah bibir dan palatum berdasarkan ekspresi gen AKT dan MTOR dengan penghambat IGF-1 belum diketahui secara pasti. Tujuan: Mengevaluasi efek anti IGF-1R dan IGFBP-3 terhadap karakteristik DPSC subjek normal dan pasien CLP melalui ekspresi gen AKT dan MTOR. Metode: RNA DPSC subjek normal (n=4) yaitu kelompok sebelum perlakuan, kontrol negatif tanpa FBS, kontrol negatif dengan FBS, perlakuan anti IGF-1R. RNA DPSC CLP (n=3) yaitu kelompok sebelum perlakuan, kontrol negatif tanpa FBS, kontrol negatif dengan FBS, perlakuan anti IGF-1R. Analisis ekspresi gen AKT dan MTOR menggunakan GAPDH sebagai housekeeping gene dengan Real time PCR. Hasil: Tidak terdapat perbedaan ekspresi gen AKT dan MTOR, antara DPSC subjek normal dengan CLP sebelum perlakuan (p0,05) ataupun DPSC subjek normal dengan CLP setelah perlakuan anti IGF-1R (p0,05). Kesimpulan: Sel stromal pulpa gigi permanen subjek normal dan pasien celah bibir dan palatum pada kelompok sebelum perlakuan dan sesudah perlakuan anti IGF-1R memiliki karakteristik yang sama melalui ekspresi gen AKT dan MTOR. ......Background: In order to develop alternative therapies for alveolar bone reconstruction in cleft lip and palate (CLP), tissue engineering technology is a promising alternative using stromal cell and growth factors. Recent studies regarding DPSC in CLP patients have resulted in satisfactory bone healing. In addition, overexpression of IGF-1 was found in the DPSC of CLP patients. AKT and MTOR are downstream of the IGF-1 signaling pathway. AKT has a role as a regulator of cell survival and proliferation. MTOR signaling regulates gene transcription and protein synthesis to regulate cell proliferation and cell differentiation. However, the characteristics of DPSC normal subjects and cleft lip and palate patients based on AKT and MTOR gene expression with IGF-1 inhibitors are unknown. Objective: To evaluate the effect of anti-IGF-1R and IGFBP-3 on DPSC normal and CLP subject through AKT and MTOR gene expression. Methods: RNA from DPSC normal subject (n=4) with pretreatment, negative control without FBS, negative control with FBS, anti IGF-1R treatment dan DPSC CLP subject (n=3) with pretreatment, negative control without FBS, negative control with FBS, anti IGF-1R treatment. Analysis of AKT and MTOR gene expression using GAPDH as a housekeeping gene with Real time PCR test. Results: There was no difference in AKT and MTOR gene expression, either between DPSC of normal subjects and CLP patients before treatment (p0.05) or DPSC of normal and CLP patients after anti IGF-1R treatment (p0.05). Conclusion: DPSC of normal subjects and cleft lip and palate patients have the same characteristic with anti IGF-1R treatment through AKT dan MTOR gene expression.
Jakarta: Fakultas Kedokteran Gigi Universitas Indonesia, 2022
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UI - Skripsi Membership  Universitas Indonesia Library
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Pasaribu, Merci Monica Br
Abstrak :
ABSTRAK
Stunting merupakan kondisi malnutrisi pada anak yaitu tinggi badan menurut usia lebih dari minus 2 simpang baku. Indonesia menempati urutan kelima di dunia. Stunting berkorelasi dengan asupan makanan terutama protein, IGF-1 dan protein pengikat Insulin like Growth Factor Binding Protein IGFBP-3 , dan Zinc Zn . Kualitas protein dinilai dari profil asam amino bebas plasma Plasma Free Amino Acid = PFAA dan kuantitas dinilai dari jumlah asupan protein harian. Beberapa penelitian menemukan kadar IGF-1 dipengaruhi oleh polimorfisme SNP rs5742612, rs35767 dan rs35766. Penelitian ini bertujuan untuk menganalisis peran profil PFAA, IGF-1, IGFBP-3, polimorfisme IGF-1, Insulin, dan Zn pada anak.Penelitian ini merupakan studi comparative cross sectional dilakukan di RS Cipto Mangunkusumo, Lembaga Biomolekular Eijkman, dan Labkesda DKI Jakarta. Subjek penelitian adalah anak usia 1 ndash;3 tahun berasal dari UPTD Puskesmas Jatinegara dibagi menjadi 2 kelompok yaitu 101 anak stunted dan 101 anak nonstunted.Pada penelitian ini didapatkan kadar 8 dari 9 AA esensial, 2 AA esensial kondisional, dan 2 AA nonesensial lebih rendah bermakna kelompok stunted dibandingkan nonstunted. Profil PFAA yaitu jumlah anak di bawah nilai rujukan berbeda bermakna antara kelompok stunted dan nonstunted. Terdapat korelasi 8 AA esensial, 1 AA esensial kondisional, dan 2 AA nonesensial dengan tinggi badan anak. Pada kelompok anak stunted, IGF-1, IGFBP-3, insulin, Zn, energi total dan protein lebih rendah bermakna dari kelompok anak nonstunted. Terdapat korelasi bermakna AA esensial dengan IGF-1 dan IGFBP-3. Polimorfisme rs35766 genotipe AG kodominan memiliki pengaruh terhadap kadar IGF-1 pada kelompok nonstunted. Faktor yang memengaruhi kejadian stunting adalah energi atau protein, IGF-1 yang berinteraksi dengan genotipe kodominan AG, IGFBP-3, dan Zn.Simpulan: PFAA, IGF-1 yang berinteraksi dengan SNP rs35766 genotipe kodominan AG, memiliki pengaruh terhadap kejadian stunting. Perlu penelitian lebih lanjut mengenai pemberian pola makan yang tepat untuk mencegah dan mengatasi anak stunted. Kata kunci: AA esensial, AA nonesensial, IGFBP-3, insulin, PFAA, stunting, Zn
ABSTRACT
Stunting is a malnourished condition in children defined by height for age is under minus 2 standard deviation. Indonesia ranked fifth in world for this condition. Stunting mainly corelates with low protein intakes, IGF-1 and its binding protein Insulin-like Growth Factor Binding Protein/IGFBP-3 , and zinc Zn . Plasma free amino acid profile PFAA measures quality of protein intake, whilst its quantity measured by daily protein intake records. Previous studies found IGF-1 level affected by single nucleotide polymorphism SNP on rs5742612, rs35767 and rs35766. This study aims to analyze the role of PFAA, IGF-1, IGFBP-3, and IGF-1 polymorphism, insulin, and Zn in children.This study is a comparative cross-sectional study held in Cipto Mangunkusumo National General Hospital, Eijkman Institute for Molecular Biology, and Jakarta Provincial Public Health Laboratory. Subjects were children age 1 ndash;3 years old from Jatinegara Region Public Health Centre divided into two groups of 101 stunted children and 101 non-stunted children.Eight essential AA levels, 2 conditional essential AAs, 2 nonessential AAs were significantly lower in stunted groups than non-stunted. There was significant difference of profile PFAA below normal range between stunted and non-stunted group. Eight essential amino acids, 1 conditional essential amino acid, and 2 non-essential amino acid correlate with children rsquo;s height. IGF-1, IGFBP-3, insulin, Zn, total energy, and protein were significantly lower in stunted children compare to non-stunted children. Significant correlations found for all essential amino acids with IGF-1 and IGFBP-3. The rs35766 AG codominant polymorphism affects IGF-1 level in non-stunted group. Factors affects stunting condition were total energy or protein intake, IGF-1 that interacts with AG codominant genotype, IGFBP-3, and Zn.Conclusion: PFAA and IGF-1 that interacts with SNP rs35766 AG codominant genotype affect stunting. Further study needed to determine appropriate dietary habit for stunting prevention and treatsment. Keywords: Essential amino acid, IGFBP-3, insulin, non-essential amino acid, plasma free amino acid profile, stunting, zinc
Jakarta: Fakultas Kedokteran Universitas Indonesia, 2018
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UI - Disertasi Membership  Universitas Indonesia Library