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Initiating Development of Genetic Counseling Services in the Health Services Unit: An Initial Assessment

Journal of the Indonesian Medical Association Vol. 60 No. 9 September 2010
Publisher : Journal of the Indonesian Medical Association

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Abstract

Medical industry has grown rapidly take advantage of the knowledge, resources, and various applications of genetic techniques to solve various problems related to the benefit of mankind. As a result of developments in this realm of genetic, genomic medicine appears focused on the health sector. Genomic medicine is a great springboard for diagnosing, monitoring, and provide therapy in a variety of diseases. A part of genomic medicine is genetic counseling which focused in serving genetic information concerning about genetic diseases. The development of genetic counseling services are an essential part of health care-related policy.Keywords: genetic counseling, genetic disease

Perbedaan Pola Sidik Jari Anak-Anak Sindrom Down dan Anak-Anak Normal di Purwokerto

Jurnal Sains Medika Vol 2, No 2 (2010)
Publisher : Fakultas Kedokteran UNISSULA

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Abstract

Pendahuluan: Pola sidik jari tidak hanya digunakan untuk mengidentifikasi tindak kejahatan, tetapi dapat juga digunakan untuk menidentifikasi kelainan kromosom seperti Sindrom Down (trisomi 21). Tujuan penelitian ini adalah  mengetahui variasi, perbedaan distribusi pola sidik jari dan perbedaan jumlah sulur ujung jari pada anak-anak Sindrom Down dan anak-anak normal di Purwokerto. Metode Penelitian: Metode yang digunakan pada penelitian adalah observasi analitik dengan cross sectional study sebagai desain penelitian. Sampel penelitian berjumlah 148 dengan 2 kelompok subjek penelitian yang masing-masing berjumlah 74 orang. Analisis data menggunakan uji Chi-Square (χ2) serta uji alternatif Mann-Whitney test. Hasil Penelitian: Hasil penelitian menunjukkan bahwa rata-rata presentase tertinggi pola sidik jari pada penderita Sindrom Down adalah loop ulna (63,4%), sedangkan pada anak normal adalah whorl (37,1%). Terdapat perbedaan rerata yang bermakna dari distribusi pola loop ulna (p=0,000), whorl (p=0,001) dan arch (p=0,000), sedangkan utuk loop radial (p=0,691) tidak menunjukkan perbedaan rerata  yang bermakna kedua tangan antara penderita Sindrom Down dengan anak normal. Rata-rata jumlah sulur ujung jari pada penderita Sindrom Down di SLB C YAKUT Tanjung (144,1) lebih tinggi dibandingkan anak normal di SD KRANJI I Purwokerto (100,5) dengan uji alternatif Mann –Whitney test berbeda nyata pada p = 0,000. Kesimpulan: Terdapat perbedaan pola sidik jari ulna, whorl, arch, dan jumlah sulur di antara anak dengan Sindrom Down dan analk normal di Purwokerto.

GFR and Blood Lead Levels in Gas Station Workers Based on δ-Alad Gene Polymorphisms

Jurnal Ners Vol 10, No 1 (2015): Vol. 10 Nomor 1 April 2015
Publisher : Universitas Airlangga

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Abstract

Introduction: Lead is a well-known toxic agent that makes an organ’s failure. Lead serum itself is infl uenced by δ-ALAD gene polymorphisms (Amino Levulinic Acid Dehydratase). δ-ALAD gene encodes an ALAD enzyme used for heme synthesis. The Characteristic of gene polymorphism may result in Glomerulo Filtration Rate (GFR) value as mark of renal failure. The goal of this study was to fi nd correlations between blood lead levels with GFR in terms of δ ALAD gene polymorphisms. Method: A cross-sectional design was used to perform this research. Thirty-eight gas stations workers in Banyumas were recruited in this study. δ-ALAD gene polymorphisms were characterized using PCR-RFLP method, while lead serum levels were quantifi ed by Atomic Absorption Spectrophotometer (AAS). In addition, Creatinin serum was done with a spectrophotometer and GFR value was formulated by means of the Schwartz method. Result: The studyshowed that the proportion of ALAD genotype for ALAD 1-1, 1-2 and 2-2 were 94.7%, 5.3%, and 0% respectively. The mean of serum levels in homozygous 1-1 was 15.94 ppb and heterozygote 1-2 was 1.15 ppb. GFR of participants ranged from 71.11 mL/min to 185.20 mL/min with a mean of 117.34mL/min. There was no correlation between serum Pb and GFR (p = 0.19). Study also could not determine the correlation between GFR and ALAD gene Polymorphism. Discussion: Study then concluded that there was no correlation between blood lead levels in the GFR on each δ-ALAD genotypes.Keywords: Lead intoxication, GFR, δ-ALAD, gas station workers

HUBUNGAN ANTARA INDEKS MASSA TUBUH (IMT) DENGAN TES FUNGSI PARU

MANDALA of Health Vol 4, No 2 (2010): Mandala Of Health
Publisher : Jurusan Kedokteran FK Unsoed

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Abstract

Body mass index (BMI) is a tool of measuring the nutritional status of individu. One of the effects ofobesity is the mechanics disturbance led to abnormality on pulmonary function tests. This study was aimed todetermine the relationship between body mass index with pulmonary function tests (PFTs) on medical studentJenderal Soedirman University. Analityc observational study with cross sectional design was used in thisinvestigation. The sampling technique used proportional random sampling with 82 samples. Pulmonaryfunction tests was classified into vital capacity (VC), tidal volume (TV), inspiration reserve volume (IRV),expiratory reserve volume (ERV), inspiration capacity (IC), forced vital capacity (FVC) dan FEV1.Univariate analysis, which was using table of frequency to see chategorichal variables and central tendencymeasurement to see numerical variables, and bivariate analysis, which was using Pearson and Spearmancorrelation to see the relationship between BMI with PFTs; unpaired t tests and Mann Whitney to know thedifferences of PFTs results between men and women, were used in this research. From the results weconcluded that there are significant relationship between between BMI with VC (p = 0,015), IRV (p = 0,026),IC (p = 0,016), FVC (p = 0,004) and FEV1 (p = 0,021) with low power relationship and was no relationshipBMI with TV (p = 0,489) and ERV (p = 0,231). In the unpaired t test and Mann Whitney we found that thereare differences all PFTs in a group of men and women.

GFR and Blood Lead Levels in Gas Station Workers Based on δ-Alad Gene Polymorphisms

Jurnal NERS Vol 10, No 1 (2015): Vol. 10 Nomor 1 April 2015
Publisher : Universitas Airlangga

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Abstract

Introduction: Lead is a well-known toxic agent that makes an organ’s failure. Lead serum itself is infl uenced by δ-ALAD gene polymorphisms (Amino Levulinic Acid Dehydratase). δ-ALAD gene encodes an ALAD enzyme used for heme synthesis. The Characteristic of gene polymorphism may result in Glomerulo Filtration Rate (GFR) value as mark of renal failure. The goal of this study was to fi nd correlations between blood lead levels with GFR in terms of δ ALAD gene polymorphisms. Method: A cross-sectional design was used to perform this research. Thirty-eight gas stations workers in Banyumas were recruited in this study. δ-ALAD gene polymorphisms were characterized using PCR-RFLP method, while lead serum levels were quantifi ed by Atomic Absorption Spectrophotometer (AAS). In addition, Creatinin serum was done with a spectrophotometer and GFR value was formulated by means of the Schwartz method. Result: The studyshowed that the proportion of ALAD genotype for ALAD 1-1, 1-2 and 2-2 were 94.7%, 5.3%, and 0% respectively. The mean of serum levels in homozygous 1-1 was 15.94 ppb and heterozygote 1-2 was 1.15 ppb. GFR of participants ranged from 71.11 mL/min to 185.20 mL/min with a mean of 117.34mL/min. There was no correlation between serum Pb and GFR (p = 0.19). Study also could not determine the correlation between GFR and ALAD gene Polymorphism. Discussion: Study then concluded that there was no correlation between blood lead levels in the GFR on each δ-ALAD genotypes.Keywords: Lead intoxication, GFR, δ-ALAD, gas station workers

Aminolevulinate dehydrogenase polymorphisms did not modified lead serum and memory relationship

Universa Medicina Vol 31, No 3 (2012)
Publisher : Faculty of Medicine, Trisakti University

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Abstract

BACKGROUND Lead accumulation in the blood widely known affecting the formation of heme and oxygen transport processes in vital organs, Leading to organ failure including the brain synapses. Lead affinity has been recognized influenced by constitutional genotype of aminolevulinate dehydrogenase (ALAD), which encodes for heme synthesis. This research aimed to determine the relationship between plumbum (Pb) and short term memory on each ALAD gene genotyping (ALAD 1-1, ALAD 1-2 or ALAD 2-2) in gas station workers. METHODS Seventy six probands from gas station workers were recruited to participate in this research. Each probands was carried out ALAD genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) method, lead serum level using atomic absorbent spectrophotometer (AAS), and short term memory was measurement by intelligence structure test (IST). RESULTS Proportion of δ ALAD 1-1, 1-2, and 2-2 were 91.8%, 8.2% and 0% respectively. Lead serum showed 15.84 ppb in homozygous 1-1, and 20.79 ppb in heterozygous. Short term memory in the probands varied from 85 until 117, with average in 99.71. There was significant negative relationship between lead serum and short term memory (r=-0.24; p=0.038). However, we could not find any significant correlation in each δ ALAD genotypes. CONCLUSION The δ ALAD genotypes did not modified the relationship between serum lead level and short term memory in gas station workers.

Hair root FMRP expression for screening of fragile X full mutation females

Universa Medicina Vol 30, No 1 (2011)
Publisher : Faculty of Medicine, Trisakti University

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Abstract

The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome. Antibody tests have been developed to identify fragile X patients, based on the presence or absence of fragile mental retardation protein (FMRP) in both lymphocytes and hair roots. The objective of this study was to compare correlations of hair root and lymphocyte FMRP expression with cognitive functioning in female rural area probands carrying the full mutation. Thirty females (normal, premutation, or full mutation) were selected from Indonesian fragile X families and were tested for FMRP expression in lymphocytes and hair roots using the FMRP antibody test. Subject genotype was determined by Southern blot analysis, and IQ equivalent by Raven’s Standard Progressive Matrices. Statistical analysis was by Pearson correlation. FMRP expression in blood lymphocytes was relatively higher than that in hair roots, but hair root FMRP expression was strongly correlated with cognitive functioning in female full mutation carriers (r=0.64, p=0.015), whereas no significant correlation between lymphocyte FMRP and cognitive functioning was found (r=0.31, p= 0.281). Around 14% of subjects had a normal and 7% a borderline IQ level, while 79% had mild mental impairment. In conclusion, hair root FMRP expression may be a useful marker for identification of fragile X full mutation females.

Uji Diagnostik Indeks Darah dan Identifikasi Molekuler Karier Talasemia β pada Pendonor Darah di Banyumas

Jurnal Kedokteran Brawijaya Vol 28, No 3 (2015)
Publisher : Fakultas Kedokteran Universitas Brawijaya

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Abstract

Talasemia menempati kelainan genetik yang paling umum di seluruh dunia dengan prevalensi karier talasemia di Indonesia adalah sekitar 3-10%. Banyumas merupakan salah satu wilayah yang menyumbang angka prevalensi penderita talasemia yang cukup besar. Salah satu perangkat dalam program pencegahan terpadu adalah memastikan diagnosa molekuler pada tahap skrining sesuai dengan mutasi lokal. Tujuan dari penelitian adalah untuk mengetahui nilai uji diagnostik indeks darah dan karakterisitik mutasi talasemia β pada pendonor darah yang dicurigai karier talasemia. Subjek penelitian adalah 183 pendonor darah rutin pada PMI Banyumas. Skrining awal menggunakan indeks darah MCV, MCH, dan Hemoglobin elektroforesis. Karakteristik molekuler dilakukan dengan teknik PCR-RFLP dan teknik ARMS.  Hasil penelitian menunjukkan bahwa MCV memiliki nilai sensitivitas 81,3%, dan spesifisitas 95,8% sedangkan MCH menunjukkan sensitivitas sebesar 80% dengan spesifisitas 97,5%. Mutasi IVS-1 nt 5 (G>C) merupakan mutasi tersering disusul dengan HBE (codon 26) dan IVS1 nt 1(G>T).Kata Kunci: Identifikasi molekuler, indeks darah, karier talasemia

Genetic Counseling in Indonesia as a Mandatory Service

Jurnal Kedokteran dan Kesehatan Indonesia JKKI, Vol 9, No 1, (2018)
Publisher : Faculty of Medicine, Universitas Islam Indonesia

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Pemberdayaan Ekonomi Pasien Thalassemia Melalui Kegiatan Bisnis Online di Banyumas

Jurnal Pengabdian Pada Masyarakat Vol 2 No 2 (2017)
Publisher : Universitas Mathla'ul Anwar Banten

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Abstract

ECONOMIC EMPOWERING OF THALASSEMIA PATIENTS THROUGH ONLINE ENTREPREUNERS ACTIVITIES IN BANYUMAS. Thalassemia in Banyumas is a part of portrait of Indonesia’s problems. Todays, there is not yet any national thalassemia countermeasures program so that thalassemia prevalence is getting increased year by year. Increasing life expectancy of thalassemia patients brings economical problem consequence. Social stigma and businessmen support Thalassemia patients to be powered economically in their productive age. Entrepreneurship autonomy becomes an alternative to overcome it. Online entrepreneurs has flexibility, creative space, global range and unlimited time that support it to be an optional solution for preparing thalassemia patients welcoming productive age.