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Patogenesis, Skrining, Diagnosis, dan Penatalaksanaan Phenylketonuria Kurniawan, Liong Boy
Cermin Dunia Kedokteran Vol 42, No 9 (2015): Pediatri
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (856.879 KB) | DOI: 10.55175/cdk.v42i9.970

Abstract

Phenylketonuria merupakan penyakit kelainan metabolisme asam amino bawaan akibat mutasi gen phenylalanine hydroxylase (PAH) yang terletak pada kromosom 12q23.2. Phenylketonuria yang tidak diterapi menyebabkan peningkatan kadar phenylalanine di dalam darah dan akumulasinya pada otak berakibat toksik, sehingga dapat terjadi gangguan intelektual progresif, gangguan pertumbuhan, tingkah laku dan kejiwaan seiring pertumbuhan anak. Phenylketonuria dapat diidentifikasi melalui skrining neonatus. Tes Guthrie sangat berguna untuk skrining massal dengan sampel dried blood spot (DBS) menggunakan kertas filter terstandarisasi (Guthrie Card). Terapi utama adalah pemberian diet rendah phenylalanine, sedangkan terapi tambahan dengan beberapa modalitas seperti pemberian BH4. Terapi dini menghasilkan luaran yang baik dengan perkembangan kognitif dalam batas normal.Phenylketonuria is an inborn amino acid metabolism disorder caused by mutation of phenylalanine hydroxylase gene (PAH) located at chromosome 12q23.2. Untreated phenylketonuria causes increase of blood phenylalanine level and may accumulate in the brain resulting toxic leading to progressive intellectual impairment, growth and behavior disorders as the growth of children. Phenylketonuria can be identified during neonatal screening. Guthrie test is very useful for mass screening using dried blood spot sample in standardized filter (Guthrie Card). Main therapy of phenylketonuria is low phenylalanine diet and additional treatments with several modalities such as BH4. Earlier treatment can lead to better outcomes with normal cognitive development. 
Hasil Positif Palsu Tes Morfin pada Skrining Urin Narkoba Diduga Akibat Rifampisin Kurniawan, Liong Boy; Widaningsih, Yuyun; Sennang, Nurhayana; Bahrun, Uleng; Arif, Mansyur
Cermin Dunia Kedokteran Vol 42, No 1 (2015): Neurologi
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (243.256 KB) | DOI: 10.55175/cdk.v42i1.1054

Abstract

Hasil positif palsu pada tes skrining urin narkoba dengan metode imunologi jarang terjadi. Pemastian hasil memerlukan anamnesis yang baik mengenai konsumsi obat dan konfirmasi dengan tes yang lebih spesifik, biasanya dengan metode kromatografi gas/spektrometri massa. Beberapa substansi dilaporkan dapat menyebabkan hasil positif palsu. Dilaporkan satu kasus laki-laki 18 tahun dengan hasil positif morfin (tes urin narkoba) menggunakan metode imunologi kompetitif. Setelah anamnesis ketat diketahui bahwa pasien tersebut dalam pengobatan rifampisin selama 6 bulan karena tuberkulosis dan tidak pernah mengkonsumsi narkoba. Sampel urin berwarna kemerahan (hasil ekskresi metabolit rifampisin melalui urin). Diperlukan konfirmasi pasti dengan metode lebih spesifik dengan kromatografi gas/spektrometri massa (standar baku emas).False positive reports on urine drug screening using immunoassay method are rare. Confirmation should be done through detailed anamneses on consumed drugs that may interfere result and perform test with more specific method such as gas chromatography/mass spectrometry (GC-MS). Some substances have been reported as the causes of false positive test. A case reported to have positive on morphine urine drug test using competitive immunoassay from an 18 year-old male. The patient was on 6-month rifampicin treatment for tuberculosis and had no history of substance abuse. The urine sample was reddish due to rifampicin metabolite excretion. Confirmation with gas chromatography/mass spectrometry method should be performed as gold standard.
Mean Platelet Volume (MPV) sebagai Penanda Prognostik Sindrom Koroner Akut -, Sukmawaty; Kurniawan, Liong Boy; Rauf, Darmawaty
Cermin Dunia Kedokteran Vol 44, No 9 (2017): Kardiologi
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (139.508 KB) | DOI: 10.55175/cdk.v44i9.724

Abstract

Pendahuluan. Peningkatan aktivitas platelet dihubungkan dengan prognosis buruk pada pasien Sindrom Koroner Akut (SKA). Nilai Mean Platelet Volume (MPV) mencerminkan aktivasi platelet. Penelitian ini bertujuan untuk menganalisis kaitan nilai MPV terhadap prognosis SKA. Metode. Penelitian cross-sectional atas data rekam medik pasien SKA rawat inap periode Januari 2014 – Desember 2015 di RSUP dr. Wahidin Sudirohusodo Makassar. Uji Mann-Whitney digunakan untuk menganalisis hubungan nilai MPV terhadap prognostik SKA. Hasil. Diperoleh 251 data pasien SKA (120 STEMI, 71 NSTEMI, 60 UAP). Lama perawatan pasien STEMI sebagian besar > 7 hari, sedangkan lama perawatan pasien UAP dan NSTEMI sebagian besar ≤ 7 hari. Tidak ditemukan perbedaan bermakna MPV menurut luaran pasien STEMI (8,1±1,6 vs 8,2±0,9, p=0,306). Simpulan. MPV tidak dapat digunakan sebagai penanda prognostik SKA.Introduction. The increase of platelet activity has been associated with poor prognosis in Acute Coronary Syndrome (ACS) patients. The Mean Platelet Volume (MPV) level correlates with platelet activation. The aim of this study is to analyze correlation between MPV and ACS prognosis. Method. A cross-sectional study using data from medical records of patients hospitalized with acute coronary syndrome at dr. Wahidin Sudirohusodo Hospital, Makassar during January 2014 - December 2015. Mann-Whitney test was used to analyse correlation between MPV and the prognosis of ACS. Result. Two hundred and fifty one of ACS patients (120 STEMI, 71 NSTEMI, 60 UAP) were included in this study. Most STEMI patients had length of stay in hospital >7 days, while in UAP and NSTEMI were mostly ≤ 7 days. No significant difference of MPV value between survivor and non survivor STEMI patients (8,1±1,6 vs 8,2±0,9, p=0,306).
Konfirmasi Apusan Darah Tepi untuk Pseudotrombositopenia Kurniawan, Liong Boy
Cermin Dunia Kedokteran Vol 41, No 6 (2014): Bedah
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (327.663 KB) | DOI: 10.55175/cdk.v41i6.1129

Abstract

Pseudotrombositopenia merupakan keadaan yang ditandai dengan hitung trombosit rendah palsu jika dikuantifikasi dengan alat hematologi automatis, tanpa gejala dan tanda perdarahan. Pseudotrombositopenia biasanya disebabkan aglutinasi trombosit in vitro. Aglutinasi ini terjadi karena aktivasi kompleks glikoprotein alfa IIb/beta IIIa pada membran trombosit yang diinduksi EDTA yang berikatan dengan autoantibodi sirkulasi. Pada kasus trombositopenia tanpa gejala dan tanda perdarahan, perlu dikonfirmasi melalui apusan darah tepi.Pseudothrombocytopenia is a condition characterized by falsely low platelet count quantified by hematology analyzer, without any sign and symptom of bleeding. Pseudothrombocytopenia is often related in vitro platelets agglutination. Agglutination occurs due to activation of glycoprotein alpha IIb/ beta IIIa at platelets membrane induced by EDTA bound with circulating antibody. In thrombocytopenia cases without sign and symptom of bleeding, peripheral blood smear is needed to confirm pseudothrombocytopenia.
Analisis Kadar Interleukin-18 (Il-18) Serum dan Laju Filtrasi Glomerulus (GFR) Pada Obesitas Sentral dan Non Obesitas Sentral Chika Pratiwi; Yuyun Widaningsih; Liong Boy Kurniawan
Poltekita : Jurnal Ilmu Kesehatan Vol. 15 No. 2 (2021): August
Publisher : Poltekkes Kemenkes Palu

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33860/jik.v15i2.451

Abstract

Interleukin-18 adalah proinflmasi dihasilkan di glomerulus, meningkat pada keadaan sindrom metabolik diawali dengan obesitas, diekskresikan setelah cedera iskemik ginjal. IL-18 merupakan biomarker untuk mendiagnosis kerusakan ginjal akut. Laju filtrasi glomerulus (LFG) adalah salah satu biomarker untuk menilai fungsi ginjal. Tujuan menganalisis kadar IL-18 dan LFG pada obesitas dan non obesitas sentral. Penelitian cross sectional, Sampel terdiri atas 40 subjek obesitas sentral dan 33 subjek non obesitas sentral. Kadar IL-18 serum diperiksa dengan kit human IL-18 dengan metode ELISA dan kreatinin serum menggunakan alat Clinical Chemistry Analyzer ABX Pentra. Hasil penelitian tidak terdapat perbedaan bermakna terhadap kadar Interleukin-18 antara kelompok obesitas sentral dan non obesitas sentral (p=0,576) sedangkan nilai LFG pada subjek obesitas sentral memiliki nilai rerata yang lebih tinggi yaitu 103,17 ml/min/1,73m2 dibandingkan dengan subjek non obesitas sentral yaitu 96,47 ml/min/1,73m2 dan secara statistik tidak menunjukkan adanya perbedaan bermakna pada nilai LFG subyek laki-laki dengan obesitas sentral dan non obesitas sentral (p=0,207). Pada analisis ini tidak ditemukan korelasi antara kadar IL-18 dan GFR pada kelompok obesitas dan non obesitas sentral (r=-0.047 p=0,695).
Kolerasi Indeks Obesitasa dengan Kadar Neutrophil Gelatinase Associated Lipocalin (NGAL) pada Subyek Dewasa Non-Diabetes Melitus Hardyansa; Liong Boy Kurniawan; Yuyun Widaningsih
Poltekita : Jurnal Ilmu Kesehatan Vol. 15 No. 4 (2022): February
Publisher : Poltekkes Kemenkes Palu

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33860/jik.v15i4.827

Abstract

Korelasi Indeks Obesitas Dengan Kadar Neuthrophil Gelatinase Associated Lipocalin (NGAL) Pada Subjek Dewasa Non-Diabetes Melitus. (Dibimbing oleh Liong Boy Kurniawan dan Yuyun Widaningsih). Penelitian ini bertujuan untuk mengetahui kolerasi indeks obesitas dengan kadar Neuthrophil Gelatinase Associated Lipocalin (NGAL) pada subjek dewasa Non-Diabetes Melitus. Sebanyak 70 sampel yang memenuhi kriteria inklusi dan eksklusi, terdiri dari 17 laki-laki obesitas, 18 laki-laki non-obesitas, 17 perempuan obesitas, dan 18 perempuan non obesitas. Metode penelitian ini adalah cross sectional study. Hasil penelitian ini menunjukkan bahwa tidak terdapat korelasi antara Neuthrophil Gelatinase Associated Lipocalin dengan IMT (p = 0,241, r = 0,142), LP (p = 0,204, r = -0,154), % Lemak Tubuh (p = 0,984, r = -0,02), LemakVisceral (p = 0,955 r = 0,007) pada subjek dewasa non diabetes melitus. Kesimpulan penelitian yaitu tidak ada kolerasi indeks obesitas dengan kadar Neuthrophil Gelatinase Associated Lipocalin pada subjek dewasa non diabetes melitus (DM)
HUBUNGAN KADAR ISOPROSTAN DAN HBA1C PADA PENDERITA DIABETES MELITUS TIPE 2 Muhammad Fachrul Hidayat; Liong Boy Kurniawan; Nurahmi Nurahmi
Jurnal Kesmas (Kesehatan Masyarakat) Khatulistiwa Vol 9, No 1 (2022): JURNAL KESMAS (KESEHATAN MASYARAKAT) KHATULISTIWA
Publisher : Universitas Muhammadiyah Pontianak

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.29406/jkmk.v9i1.3049

Abstract

ABSTRAKDiabetes keadaan ketika kadar glukosa pada darah tidak terkontrol sehingga dapat terjadi stres oksidatif yang dapat mengakibatkan terjadinya komplikasi. Gambaran glukosa darah dapat dinilai dengan pengukuran hemoglobin terglikasi (HbA1c) sedangkan parameter biokimiawi sebagai penanda keadaan stres oksidatif dan disfungsi endotel, yaitu isoprostan. Isoprostan diduga meningkat jumlahnya dalam darah penderita diabetes melitus tipe 2 dan menyebabkan stres oksidatif. Penelitian ini bertujuan untuk menemukan hubungan kadar HbA1c dan kadar isoprostan penderita DM tipe 2. Jenis penelitian cross sectional, pemeriksaan kadar isoprostan serum dilakukan dengan kit human F2-isoprostanes dengan metode sandwich Enzym Linked Immunosorbent Assay (ELISA) dan pemeriksaan HbA1c menggunakan metode Boronate Affinity Assay.  Sampel sebanyak 60 orang yang terdiri 23 laki laki dan 37 perempuan. Data dianalisis secara statistik dengan uji Kolmogrov Smirnov dan Spearman,Hasil penelitian ini menunjukkan bahwa kadar isoprostan pada DM tipe 2 tidak terkontrol memiliki nilai rerata yang lebih tinggi yaitu 26,39±2,16 pg/mL dibandingkan dengan DM tipe 2 terkontrol yaitu 19,5±5,80 pg/mL meskipun secara statistik tidak menunjukkan adanya perbedaan bermakna kadar isoprostan penderita DM tipe 2 terkontrol dan tidak terkontrol (p=0,312). Pada analisis ini tidak ditemukan korelasi antara kadar Isoprostan dan HbA1c penderita DM tipe 2 (r=0,186 p=0,154). Peneliti selanjutnya dapat menggunakan kelompok kontrol sehat sebagai pembanding untuk membuktikan terjadinya peningkatan kadar isoprostan pada penderita DM tipe 2 dan dapat membandingkan kadar isoprostan mengelompokkan penderita DM tipe 2 berdasarkan komplikasinya. Kata kunci: Diabetes Mellitus tipe 2, HbA1c, Isoprostan
Blood urea nitrogen as a predictor of mortality in myocardial infarction Liong Boy Kurniawan; Uleng Bahrun; Fitriani Mangarengi; Darmawati E R; Mansyur Arif
Universa Medicina Vol. 32 No. 3 (2013)
Publisher : Faculty of Medicine, Universitas Trisakti

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2013.v32.172-178

Abstract

INTRODUCTIONBlood urea nitrogen and creatinine levels are routine laboratory tests for evaluating renal function. Renal dysfunction has been related to worse prognosis of cardiovascular diseases. The purpose of this study was to determine the relationship between admission blood urea nitrogen and creatinine levels with in-hospital mortality in acute myocardial infarction patients. METHODSA cross-sectional study was performed using secondary data of 80 acute myocardial infarction patients hospitalized in Intensive Cardiac Care Unit of dr. Wahidin Sudirohusodo Hospital, Makassar, from June 2010 to July 2011. Admission blood urea nitrogen and creatinine levels were analyzed with Mann Whitney and Chi-Square tests.RESULTSMortality risk in the patients with blood urea nitrogen levels >50 mg/dL was 3.58 higher compared with those with blood urea nitrogen levels <50 mg/dL [OR=3.58; 95% confidence interval (CI) =1.27-10.11, p=0.013]. Mean admission creatinine levels in surviving and non- surviving patients were 0.99 ± 0.30 mg/dL and 1.70 ± 1.99 mg/dL, respectively (p=0.043). Mortality risk in patients with creatinine levels >1.1 mg/dL was 3.0-fold higher compared to patients with creatinine levels <1.1 mg/dL [OR=3.00; 95% confidence interval (CI) =1.13-7.92, p=0.024]. Multiple logistic regression showed blood urea nitrogen to be a better predictor of mortality than creatinine (OR= 3.583, p=0.016 vs OR 1.844, p=0.317).CONCLUSIONSPatients with high levels of blood urea nitrogen and creatinine had higher mortality risks than patients with normal levels. Blood urea nitrogen was a better predictor of mortality than creatinine.
PNEUMATIC TUBE TERHADAP DARAH RUTIN DAN LAKTAT DEHIDROGENASE Liong Boy Kurniawan; Asvin Nurulita; Uleng Bahrun
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol 21, No 2 (2015)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v21i2.1087

Abstract

The transportation of laboratorial samples with pneumatic tube system spends less time than when were handled by courier.Pneumatic tube system produces minor vibrations on sample due to the velocity changes during transportation and may cause changeson the blood cells and haemolysis. The aim of this study is to know the effect of sample transportation with pneumatic tube on bloodcells and its effect on hemolysis. A cross sectional study was performed at Dr. Wahidin Sudirohusodo Hospital, Makassar in July 2013.Routine blood, electrolyte and LDH were tested in 12 out-patients. The researchers collected two (2) samples, for each EDTA tube (routineblood tests) and serum (electrolyte and LDH). The samples were transported using pneumatic tube and the paired samples were sentby courier. The result then were analyzed with Paired T-Test. There were no significant difference of routine blood test results betweensamples sent by pneumatic tube and courier except RDW. RDW were higher in samples which were sent by pneumatic tube comparedto those brought by the courier (18.72±2.70% vs 17.83±2.36%, p=0.007). The electrolyte levels sent by both methods there were nosignificant difference, but the LDH levels were higher in samples sent by pneumatic tube (472.08±100.44 U/L vs 331.25±94.19 U/L,p=0.000). Based on this study, in common can be concluded that the pneumatic tube system does not effect on the routine blood testresults, except on RDW and does not cause changes due to haemolysis (on electrolyte) except the LDH levels elevates. So based on thisstudy, it is recommended to send samples for LDH test only by courier.
ANGKA BANDING LIPID DI INFARK MIOKARD Liong Boy Kurniawan; Uleng Bahrun; Darmawaty ER
INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY Vol 20, No 1 (2013)
Publisher : Indonesian Association of Clinical Pathologist and Medical laboratory

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24293/ijcpml.v20i1.437

Abstract

Lipid profiles are used as the regular tests which performed to predict and evaluate the risk of coronary heart disease. The routine lipid tests include total cholesterol, LDL, HDL and triglyceride level. The total cholesterol/HDL and LDL/HDL ratio are often used as predictors of coronary heart disease. This study was performed to know the lipid level and ratio by comparing the condition in myocardial infarction patients and young adult controls and to observe the percentage of their lipid level and ratio exceeding the recommended optimal value. A retrospective study was performed using secondary data of 73 myocardial infarction patients, whom hospitalized in the Intensive Cardiac Care Unit Dr. Wahidin Sudirohusodo Hospital Makassar from June 2010 to July 2011 and 21 healthy young adult as controls. The mean level of the total cholesterol, LDL, HDL, triglyceride, ratio of total cholesterol/HDL and LDL/HDL of myocardial infarction patients are compared with the control subjects were 209.99±51.70 vs 151.42±27.90 mg/dL (p=0.000), 141.18±41.92 vs 76.76±20.45 mg/dL (p=0.000), 36.96±10.47 vs 47.05±8.24 mg/dL (p=0.000), 132.27±65.67 vs 142.14±54.93 mg/dL (p=0.155), 5.99±1.71 vs 3.26±0.59 (p=0.000) and 4.06±1.45 vs 1.66±0.44 (p=0.000), respectively. It was shown that the percentage of myocardial infarction patients with total cholesterol, LDL level, total cholesterol/HDL and LDL/HDL ratio exceeding recommended optimal value were 57.53%, 63.01%, 73.97% and 86.30%, respectively. The level of total cholesterol and LDL, ratio of total cholesterol/HDL and LDL/HDL in myocardial infarction patients were significantly higher, but the HDL level was lower compared to the control subjects. The percentage of myocardial infarction patients with LDL/HDL ratio exceeding recommended optimal value was higher than the other lipid levels and ratio. Therefore, it is concluded that the LDL/HDL ratio is better in predicting coronary heart disease than other routine lipid markers.