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INDONESIA
Majalah Kedokteran Andalas
Published by Universitas Andalas
ISSN : 01262092     EISSN : 24425230     DOI : https://doi.org/10.25077
Core Subject : Health,
Majalah Kedokteran Andalas (MKA) (p-ISSN: 0126-2092, e-ISSN: 2442-5230) is a peer-reviewed, open-access national journal published by Faculty of Medicine, Universitas Andalas and is dedicated to publish and disseminate research articles, literature reviews, and case reports, in the field of medicine and health, and other related disciplines
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Search results for , issue "Vol 38, No 1 (2015): Published in May 2015" : 11 Documents clear
DIAGNOSIS DAN TATALAKSANA HEPATOPULMONARY SYNDROME Dwitya Elvira
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (404.153 KB) | DOI: 10.22338/mka.v38.i1.p57-65.2015

Abstract

AbstrakSirosis hepatis dan penyakit hati kronik merupakan penyebab kematian terbanyak di seluruh dunia. Tingginya angka morbiditas dan mortalitas sirosis berhubungan dengan komplikasinya yang bersifat sistemik. Salah satu komplikasi sirosis dapat mengenai paru berupa sindrom hepatopulmonar atau hepatopulmonary syndrome. Hepatopulmonary syndrome (HPS) didefinisikan sebagai trias yang terdiri dari kegagalan hati stadium lanjut, hipoksemia arterial serta dilatasi intravaskular pulmonar tanpa disertai penyakit kardiopulmonar. Patogenesis HPS masih belum diketahui pasti, namun diduga terjadi gangguan metabolisme zat vasoaktif paru yang menimbulkan vasodilatasi vaskuler paru. Manifestasi klinis HPS berupa dispneu yang khas dengan tanda kegagalan hati dan hipertensi portal. Modalitas diagnostik HPS adalah radiologi thorax, analisa gas darah, contrast enhanced echocardiography (CEE), nuclear scanning dengan Tc-99m dan angiografi paru. Penatalaksanaan HPS terutama bertujuan menurunkan vasodilatasi intrapulmonar, meningkatkan oksigenasi arterial dan mengurangi keluhan. Deteksi dini terhadap komplikasi sirosis mutlak diperlukan dalam mencegah dan mengurangi angka morbiditas dan mortalitas.Abstract Liver cirrhosis and chronic liver disease are the leading cause of death worldwide. The high morbidity and mortality associated with their systemic complications. One of the complications of cirrhosis is hepatopulmonary syndrome. Hepatopulmonary syndrome (HPS) is defined as the triad of advanced-stage liver failure, arterial hypoxemia and pulmonary intravascular dilatation without cardiopulmonary disease. The pathogenesis of HPS is still not known for sure, but suspected metabolic disorder pulmonary vasoactive substances that cause pulmonary vascular vasodilatation. The clinical manifestations of HPS is typical dispneu with signs of liver failure and portal hypertension. HPS diagnostic modalities are radiology thorax, blood gas analysis, contrast enhanced echocardiography (CEE), nuclear scanning with Tc-99m and pulmonary angiography. HPS management aims primarily to lower intrapulmonar vasodilation, improving arterial oxygenation and reduce complaints. Early detection of complications of cirrhosis is absolutely necessary in preventing and reducing morbidity and mortality.
HUBUNGAN POLA MAKAN DENGAN TEKANAN DARAH PADA ORANG DEWASA DI SUMATERA BARAT Miftah Nur Andamsari; Nur Indrawati Lipoeto; Husnil Kadri
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (432.016 KB) | DOI: 10.22338/mka.v38.i1.p20-25.2015

Abstract

AbstrakTerdapat banyak faktor yang mempengaruhi tekanan darah pada orang dewasa, salah satunya adalah pola makan. Makanan dapat memicu kenaikan atau penurunan tekanan darah. Penelitian ini bertujuan untuk meneliti lebih lanjut tentang hubungan pola makan dengan tekanan darah. Penelitian ini dilakukan pada masyarakat yang bertempat tinggal di Padang Pariaman, Padang, Solok dan Padang Panjang. Penelitian ini merupakan studi cross-sectional dengan jumlah sampel 250 orang. Pengumpulan data responden dilakukan dengan wawancara dan pengukuran tekanan darah. Analisis statistic yang digunakan adalah uji korelasi Spearman. Hasil penelitian ini menunjukkan bahwa 20% responden menderita hipertensi. Uji korelasi Spearman menunjukkan adanya hubungan antara konsumsi lemak dengan tekanan darah sistolik (p<0,05). Sementara konsumsi lemak dengan tekanan darah diastolik tidak menunjukkan adanya hubungan (p>0,05). Konsumsi kalori, vitamin C dan kalsium juga tidak menunjukkan hubungan dengan tekanan darah (p>0,05). Kesimpulan dari penelitian ini adalah walaupun tidak terdapat hubungan yang signifikan antara pola makan lemak, kalori, vitamin C dan kalsium dengan tekanan darah, tapi ada kecenderungan terdapat korelasi yang negatif. Diperlukan penelitian lebih lanjut dengan memperhitungkan faktor resiko lain yang mempengaruhi tekanan darah.AbstractThere are many factors that have correlation with blood pressure in adult, one of them is food intake. Food can leads the blood pressure to increase or decrease. The objective of the study aims to further investigation the correlation of food intake with the blood pressure.The research was conducted to the people who live in Padang Pariaman, Padang, Solok and Padang Panjang. This research was a cross-sectional study with 250 subject of people. Data collection had done through the interview and measurement of blood. The statistical analysis was Spearman correlation test.The result of this research found that 20% of respondent was categorized into Hypertension. Spearman correlation test showed that there’s a relation between fat intake and systolic blood pressure (p<0,05). While there’s no relation between fat intake and diastolic blood pressure (p>0,05). The intake of calorie, vitamine C and calcium showed no relation too with blood pressure (p>0,05). The conclusion of this research is eventhough there was no relationship between intake of fat, calorie, vitamine C and calcium with blood pressure, but they have a negative correlation. There is a need to make same research about this topic with another risk factor that influence blood pressure.
PENATALAKSANAAN PLEOMORFIK ADENOMA PALATUM Sukri Rahman; Bestari Jaka Budiman; Yolazenia Yolazenia
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (611.794 KB) | DOI: 10.22338/mka.v38.i1.p66-72.2015

Abstract

AbstrakPleomorfik adenoma merupakan tumor jinak campuran yang terdiri dari komponen sel epitel, mioepitel dan mesenkim yang tersusun dalam beberapa variasi. Tumor ini paling sering ditemukan pada kelenjar liur. Kelenjar liur mayor yang paling umum dikenai adalah kelenjar parotis, sedangkan kelenjar liur minor paling sering terjadi pada palatum. Terapi pilihan untuk pleomorfik adenoma kelenjar liur adalah reseksi tumor. Kasus ini diajukan agar dokter umum dan dokter spesialis Telinga, Hidung, Tenggorok dapat mengetahui diagnosis dan penatalaksanaan pasien dengan pleomorfik adenoma pada palatum. Dilaporkan satu kasus pada seorang pasien laki-laki umur 49 tahun dengan benjolan yang tidak nyeri di palatum sejak 3 bulan sebelum masuk rumah sakit, histopatologi mengkonfirmasi pleomorfik adenoma sebagai diagnosisnya. Pada pasien ini dilakukan reseksi tumor sebagai penatalaksanaannya. Tumor jinak pada palatum sering berupa pleomorfik adenoma yang bila dilakukan reseksi tumor secara komplit memberikan prognosis yang baik.AbstractPleomorphic adenoma is a benign mixed tumour composed of epithelial, myoepithelial, and mesenchymal components arranged with various morphological patterns. This is the most common tumour of the salivary glands. The parotid gland was the most commonly affected major gland, and the palate the most common site of minor salivary gland involvement. Treatment of choice for pleomorphic adenoma of salivary gland is tumour resection. This case is presented to enlighten general practitioners and also otorhino-laryngologists about diagnosis and treatment of pleomorphic adenoma of the palate. Reported case of a 49 years old male with painless mass on the palate since 3 months before admission. Pathologic examination confirmed the diagnosis was pleomorphic adenoma. Tumour resection was performed to manage the patient. Pleomorphic adenoma is the most common benign tumour of the palate, which has good prognosis with complete resection of the tumour.
KULTUR PRIMER FIBROBLAS: PENELITIAN PENDAHULUAN Yuli Kurniawati; Sudigdo Adi; Achadiyani Achadiyani; Oki Suwarsa; Dimas Erlangga; Tenny Putri
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (265.175 KB) | DOI: 10.22338/mka.v38.i1.p33-40.2015

Abstract

AbstrakKultur sel fibroblas banyak digunakan untuk penelitian proses penyembuhan luka dan penuaankulit. Metode ini digunakan untuk melihat perkembangan sel, proliferasi kinetik seluler, sertabiosintesis komponen matriks ekstraseluler. Penelitian pendahuluan ini dilakukan untuk optimasiteknik laboratorium serta berbagai kendala yang didapatkan saat kultur fibroblas. Kultur primerfibroblas dibagi menjadi 2 jenis sampel yaitu sampel yang berasal dari embrio mencit usia 7,5–9,5 hari, dan kulit pasien keloid. Sampel dari embrio mencit dilakukan kultur primer denganmetode dissociated fibroblast. Sampel jaringan keloid dan kulit normal dikultur dengan metodeskin explant. Fibroblas yang berasal dari kultur primer embrio mencit tumbuh baik sehinggadapat dilakukan subkultur dan disimpan di dalam nitrogen cair suhu -198°C. Fibroblas yangberasal dari sampel keloid pertama tumbuh sesuai pola pertumbuhan fibroblas, namun padasampel kedua terdapat kontaminasi Paecilomyces sp. yang merupakan salah satu jenis jamurkontaminan. Sel fibroblas mudah untuk dikultur karena memiliki kemampuan tumbuh danmelekat yang tinggi serta regenerasi cepat, namun penelitian lebih lanjut untuk optimasi teknikkultur dan pencegahan kontaminasi masih dibutuhkan sehingga sel dapat tumbuh baik.AbstractFibroblast cell culture method has been used for wound healing and skin aging studies. Thismethod was used for cell development imaging study, celullar kinetic proliferation andextracelullar matrix component biosynthesis. This preeliminary study was done for laboratoricaltechnic optimation as well as problems appeared in fibroblast culture. Fibroblasts primary culturewas divided into 2 type of samples, from 7.5-9.5-day-mice embryo and keloid-patient skin.Primary culture with dissociated fibroblast method was done for mice embryo sample. Keloidtissue sample and normal skin were cultured with skin explant method. Fibroblasts that weretaken from mice embryo primary culture grew well therefore subculture can be done and kept in -198°C liquid nitrogen storage. Fibroblasts that were taken from first keloid sample grewaccording to fibroblast growth pattern, but, there was contamination with Paecilomyces sp. whichwas one of the contaminating fungi. Fibroblast cells are easy to be cultured as they have growthability and high adhesion capability as well as rapid regeneration, but, further study for culturedtechnical optimation and contamination prevention are still neededthereforethe cells can growwell.
Preface and ToC - Vol 38, No 1 (2015) Redaksi MKA
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (17.2 KB)

Abstract

KORELASI KADAR LAJU ENDAP DARAH DENGAN NILAI ASPECTS PADA PASIEN STROKE ISKEMIK Ratih Ismiranti Murni; Dwi Pudjonarko; Bambang Satoto; Sukma Imawati
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (457.785 KB) | DOI: 10.22338/mka.v38.i1.p26-32.2015

Abstract

AbstrakStroke adalah penyebab utama ke-3 kematian di Amerika Serikat. Stroke iskemik adalah kondisi kompleks dengan etiologi dan manifestasi klinis bervariasi. CT Scan kepala adalah pencitraan darurat stroke membedakan dengan perdarahan intrakranial. Beberapa peneliti mengemukakan adanya korelasi independent dan hubungan pemeriksaan rutin biomarkers pada pasien stroke iskemik akut termasuk di dalamnya parameter inflamasi yang berperan pada patofisiologi iskemia otak. Tujuan penelitian ini mengetahui korelasi kadar LED dengan penilaian ASPECTS pada pasien stroke iskemik. Penelitian ini merupakan penelitian observasional analitik belah lintang dari catatan rekam medik. Selama periode Desember 2012 - Oktober 2014. Didapatkan 16 sampel yang memenuhi kriteria inklusi dan ekslusi. Dengan beberapa karakteristik subyek penelitian meliputi usia, jenis kelamin, hipertensi, diabetes mellitus, dislipidemia, kadar LED 1 dan 2, awitan stroke iskemik akut. Uji statistik Rank Spearman’s,dan uji bivariat maupun multivariat. Didapatkan hasil tidak ada korelasi antara nilai ASPECTS dengan kadar LED dan faktor yang mempengaruhi nilai ASPECTS.AbstractStroke is the third major cause of death in United States. Ischemic stroke results from complex conditions with various etiologies and clinical manifestations. Brain CT Scan is a stroke emergency imaging to differentiate intracranial hemorrhage. Several studies claimed there were independent correlation and relationship of biomarker in routine examination of acute ischemic stroke patients including inflammation parameters that contribute to the pathophysiology of brain ischemic. The purpose in this study was to identify correlation between ESR level and ASPECTS in ischemic stroke patients. The method of study was analytical observational cross sectional taken from medical record. It was performed in 16 patients that fulfill the inclusion and exclusion criteria during December 2012- October 2014. Several characteristics of subject that affecting ASPECTS included age, gender, hypertention, diabetes mellitus, dyslipidemia, ESR level 1 and 2, and onset of acute ischemic stroke were assessed. Analytical test was performed by Rank spearman’s test and multivariate test. There was no correlation between ASPECTS with ESR level and factors that affect ASPECTS.
CORRELATION OF RENOGRAM WITH CYSTATIN-C LEVELS AND CREATININE CLEARANCE IN MEASURING GLOMERULAR FILTRATION RATE Aisyah Elliyanti; Iskandar Iskandar; Syaiful Azmi
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (587.256 KB) | DOI: 10.22338/mka.v38.i1.p1-6.2015

Abstract

AbstrakRenogram 99mTc-DTPA (diethylenetriamine pentacetic acid) memiliki beberapa kelebihan dalam mengukur laju filtrasi glomerulus (LFG). Cystatin-c digunakan sebagai petanda biologik baru untuk memperkirakan LFG. Tujuan penelitian ini adalah untuk menentukan korelasi nilai LFG antara renogram dengan cystatin-c dan kliren kreatinin pada pasien dengan penyakit ginjal kronis (PGK). Subjek penelitian adalah pasien PGK stadium dua berdasarkan hasil estimasi LFG dengan rumus Cockroft-Gault. Pasien yang memenuhi kriteria diperiksa renogram, kadar kreatinin serum, cystatin-c dan klirens kreatinin.Rerata LFG dari 30 orang subjek yang diperiksa dengan renogram, cystatin-c, creatinine clearance, Cockroft-Gault’s formula berturut turut adalah 64.96 ml/min/1.73m2 (SD 28.047), 53.37 ml/min/1.73m2 (SD 21.29), 58.09 ml/min/1.73m2 (SD 35.45), 46.00 ml/min/1.73m2 (SD 12.06). Korelasi antara renogram dengan cystatin-c dengan nilai r = 0.585 dan p = 0.0007, antara renogram dengan klirens kreatinin dengan nilai r = 0.388 dan p = 0.03) dan antara renogram dengan rumus Cockroft-Gault’s dengan nilai r = -0.029 dan p=0.87. Pada penelitian ini didapatkan hasil korelasi yang lebih baik antara renogram dengan cystatin-c dari pada antara renogram dengan klirens kreatinin dan antara renogram dengan rumus Cockroft-Gault’s. Lebih lanjut, cystain-c merupakan alternatif yang lebih baik untuk memperkirakan LFG jika metode pemeriksaan LFG yang mendekati teknik pemeriksaan yang ideal tidak tersedia.AbstractRenogram using 99mTc-DTPA (diethylenetriamine pentacetic acid) has advantages in the measurement of glomerular filtration rate (GFR). Serum cystatin-c was recently projected to be the new marker of estimated GFR. The aim of this study is to establish correlation between GFRs, derived from renogram with cystatin-c levels and creatinine clearances in chronic kidney disease patients.We put to study thirty consecutive stage two of chronic kidney disease patients assigned based on GFR estimation by Cockroft-Gault’s formula, taking into account the serum creatinine. Cystatin-c and creatinine clearance were performed to determine of GFR and renogram was included in this study. A total of thirty subjects, the mean of GFRs were taken from renogram, cystatin-c, creatinine clearance, Cockroft-Gault’s formula were 64.96 ml/min/1.73m2 (SD 28.047), 53.37 ml/min/1.73m2 (SD 21.29), 58.09 ml/min/1.73m2 (SD 35.45), 46.00 ml/min/1.73m2 (SD 12.06) respectively. A correlation between renogram with cystatin-c (r = 0.585 and p = 0.0007) and renogram with creatinine clearance (r = 0.388 and p = 0.03) and renogram with Cockroft-Gault’s formula (r = -0.029 and p=0.87). This study has shown that a better correlation between renogram with cystatin-c than with creatinine clearance or Cockroft-Gault’s formula. Furthermore, cystain-c would be better alternative method incase having problems to obtain a closest ideal methods for GFR.
UJI DIAGNOSTIK SEDIAAN POTONG BEKU TUMOR PAYUDARA DI LABORATORIUM PATOLOGI ANATOMI PADANG Aswiyanti Asri; Susanto Winarko
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (239.374 KB) | DOI: 10.22338/mka.v38.i1.p7-11.2015

Abstract

AbstrakKanker payudara menempati urutan pertama tumor ganas pada wanita di Sumatera Barat dan merupakan penyebab kematian sebanyak 1.41% dari total kematian. Pemeriksaan potong beku menjadi salah satu pilihan dalam menegakkan diagnosis tumor payudara karena cepat dan akurasi yang cukup tinggi. Penelitian ini bertujuan untuk mengetahui akurasi sediaan potong beku pada tumor payudara yang didiagnosis di Laboratorium Patologi Anatomi di Padang, dengan konfirmasi histopatologi (blok parafin). Sebanyak 72 kasus tumor payudara yang dilakukan pemeriksaan potong beku, dikumpulkan dari laboratorium Patologi Anatomi RSUP Dr. M. Djamil dan RS Siti Rahmah Padang dari 1 Januari 2010 sampai dengan 31 Desember 2012. Data berupa hasil pemeriksaan potong beku dan histopatologi (blok parafin) dicatat, diolah dan dilakukan uji diagnostik dengan tabel kontingensi 2x2, kemudian dilakukan penghitungan sensitivitas, spesifisitas, nilai prediksi positif, nilai prediksi negatif, dan akurasi. Hasil uji diagnostik potong beku terhadap histopatologi pada kasus tumor payudara didapatkan sensitivitas 100%, spesifisitas 95,65%, nilai prediksi positif 98%, nilai prediksi negatif 100%, akurasi 98.6%. Pemeriksaan potong beku sangat sensitif dan spesifik yang sangat bermanfaat untuk diagnosis tumor payudara yang cepat dan akurat.AbstractBreast cancer is the most common cancer among female in West Sumatera and cause of 1.41% of the death. Frozen section examination of breast has been used as a diagnostic procedure because this method need less time and have high level of accuracy. The aim of this study is to evaluate the accuracy of frozen section examination with histopathologic confirmation.The study has been done retrospectively in 72 samples of breast tumor at the Anatomic Pathology of Dr.M.Djamil Public Hospital and Siti Rahmah Hospital Padang from January 1, 2008 to December 3, 2012. The result of frozen section and histopathology examination was collected and analyzed for counted the sensitivity and specificity value, positive predictive value, negative predictive value and accuracy value using contingency table 2 x 2. The result showed a 100% sensitivity, 95.65% specificity, 98% positive predictive value, 100% negative predictive value and 98.6% accuracy. Frozen section examination is a highly sensitive and specific test that can be useful for diagnostic choice of breast tumor and it is time less and accurate.
KEJADIAN DEMAM NEUTROPENIA PADA PASIEN KANKER PAYUDARA YANG MENDAPAT KEMOTERAPI Rulli Firmansyah; Daan Khambri; Edison Edison; Zelly Dia Rofinda
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (75.258 KB) | DOI: 10.22338/mka.v38.i1.p12-19.2015

Abstract

AbstrakKemoterapi memiliki peranan penting dalam penatalaksanaan kanker payudara. Obat ini bekerjamembunuh sel-sel kanker, namun dapat juga menghancurkan sel-sel sehat termasuk sel darahsehingga dapat menyebabkan neutropenia. Penelitian ini bertujuan untuk mengetahui kejadiandemam neutropenia pada pasien kanker payudara yang mendapat kemoterapi. Jenis penelitianini adalah obsevasional dengan desain cross sectional study. Jumlah sampel sebanyak 98 orangpenderita kanker payudara yang menjalani kemoterapi di RSUP Dr. M Djamil Padang.Pemeriksaan yang dilakukan adalah differential count dan suhu tubuh oral, kemudian dilakukananalisis statistik dengan uji non parametrik. Kejadian demam neutropenia ditemukan pada 10pasien (10,2%), dimana didapatkan hubungan yang bermakna antara regimen kemoterapidengan kejadian demam neutropenia (p=0,028), dan tidak terdapat hubungan yang bermaknaantara kejadian demam neutropenia dengan umur pasien (p=0,683) serta setting kemoterapi(p=0,631). Hubungan antara kejadian demam neutropenia dengan siklus kemoterapi tidak dapatdianalisis secara statistik. Penelitian ini dapat disimpulkan bahwa regimen kemoterapi non FACmeningkatkan resiko kejadian demam neutropenia pada pasien kanker payudara yangdikemoterapi.AbstractChemotherapy has an important role in breast cancer management. Chemotherapy works bykilling cancer cells in the body. However, healthy cells including blood cells are also destroyedleading to a condition called neutropenia. This study aimed to determine the incidence ofneutropenia febrile in patients with breast cancer who received chemotherapy in thechemotherapy unit of Dr. M. Djamil Padang Hospital. This study was a cross-sectional study of98 samples. Leucosite differential count and oral body temperature were examined and wereanalyzed with non parametric test. Neutropenia febriles were found on 10 out of 98 patients(10.2%). There was a significant association found between chemotherapy regimen and theincidence of neutropenia febrile (p=0.028), however, there were no significant associationbetween the incidence of neutropenia febrile with patient’s age (p=0.683) and the setting ofchemotherapy (p=0.631). While the correlation between the incidence of neutropenia febrile andchemotherapy cycle can not be statistically analyzed. It is concluded that chemotherapy causesincidence of neutropenia febrile at 10.2% patient. Non FAC chemotherapy regimens increasesthe risk of neutropenia febrile in patients with breast cancer patient receiving chemotherapy.
SNPs ANALYSIS AS A TOOL IN MOLECULAR GENETICS DIAGNOSTICS Dewi Rusnita
Majalah Kedokteran Andalas Vol 38, No 1 (2015): Published in May 2015
Publisher : Faculty of Medicine, Universitas Andalas

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (575.781 KB) | DOI: 10.22338/mka.v38.i1.p49-56.2015

Abstract

AbstrakSingle Nucleotide Polymorphism (SNP) merupakan variasi genetik yang ditemukan pada lebih dari 1% populasi. Haplotipe, yang merupakan sekelompok SNP atau alel dalam satu kromosom, dapat di turunkan ke generasi selanjutnya dan dapat digunakan untuk menelusuri gen penyebab penyakit (marker genetik). Artikel ini bertujuan menjelaskan aplikasi analisis SNP dalam diagnosis beberapa sindrom yang disebabkan gangguan genetik. Berdasarkan laporan studi terdahulu, sindrom yang disebabkan oleh UPD (uniparental disomy) maupun penyakit autosomal resesif yang muncul sebagai akibat perkawinan sedarah dapat dideteksi dengan SNP array melalui analisis block of homozygosity dalam kromosom. Kelebihan lain SNP array adalah kemampuannya dalam mendeteksi mosaicism level rendah yang tidak terdeteksi dengan pemeriksaan sitogenetik konvensional. Bahkan saat ini, SNP array sedang diujicobakan dalam IVF untuk mendapatkan bayi yang sehat. Hal ini dapat dilakukan dengan mendeteksi ada atau tidaknya gen tunggal penyebab penyakit pada embrio hasil bayi tabung sebelum embrio ditanamkan ke uterus. Analisis SNP dengan SNP array mempunyai banyak kelebihan dibanding metode pemeriksaan SNP lainnya dan diharapkan dapat digunakan secara luas dalam bidang diagnostik molekuler genetik di masa mendatang.AbstractSingle Nucleotide Polymorphism (SNP) is a genetic variant with a frequency of >1% of a large population. Haplotypes, a combination of a set of SNPs/alleles that appear as “associated blocks” on one chromosome, tend to be inherited together to the next offspring and can be used as genetic markers to trace particular diseases. This article aimed at explaining of SNP analysis application in diagnosis of genetic-disorder related syndrome. Previous studies showed that syndromes caused by UPD or autosomal recessive disorder as a result of consanguineous marriage can be identified by SNP array through analysing block of homozygosity region in a chromosome. Another advantage of SNP arrays is its ability in detecting low level mosaicism which was unidentified by conventional cytogenetic examination. Nowadays, SNP arrays are included in IVF process to obtain a healthy baby. It can be done by detecting the absence or the presence of disease-causing single gene in an embryo before it implanted to the womb. SNP analysis with SNP array has many advantages over other SNP analysis methods and is therefore expected can be widely used in the future in the field of molecular diagnostic.

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