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Journal : Berkala Ilmu Kedokteran

A critical evaluation of peripheral blood smear in the diagnosis of thalassemia syndrome

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 30, No 01 (1998)
Publisher : Universitas Gadjah Mada

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Abstract

The severe affected thalassemla syndrome Is common In Southeast Asian countries. Considering that the feature of its peripheral blood smear Is typical, this study was aimed at investigating the diagnostic value of the blood smear in thalassemia syndrome. Sixty five patients with severe anemia and splenomegaly who were admitted or came for follow up to Sardjito General Hospital in the period of 1996 and 1997 had been enrolled In this study. The peripheral blood smear was assessed, whether thalassemla or nonthalassemia, by two laboratory technicians, each of them read blindly each smear at two occasions with at least two weeks interval. The gold standard for diagnosis of thalassemla major was the evidence of increased HbA2 (>3,5% of total Hb) In both parents and for thalassemla-hemoglobin E disease was the increased HbA2 in one of the parents and the presence of HbE in the other. The measurements of HbA2 and HbE were carried out by quantification of HbA2 fraction following hemoglobin electrophoresis on cellulose acetate membrane (CAM) electrophoresis. The results of blood smear reading showed good intrarater agreement with kappa = 0.691 by the first rater and 0.634 by the second rater). The interrater agreement was high moderate to good (kappa = 0.567 - 0.728). The first reading by the first rater, the second reading by the first rater, the first reading by the second rater, and the second reading by the second rater showed sensitivities of 0.780, 0.780, 0.878, and 0.805 respectively; specificities of 0.708, 0.958, 0.542 and 0.792 respectively; positive predictive values of 0.820, 0.969, 0.766, and 0.868 respectively; and negative predictive values of 0.650, 0.719, 0.722, and 0.704 respectively. The peripheral blood smear has high sensitivity and specificity for diagnostic test of thalassemia syndrome.Key words: thalassemia syndrome - blood smear - hemoglobin electrophoresis - sensitivity and specificity -predictive value

Human immunodeficiency virus infection in children, special aspects

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 30, No 03 (1998)
Publisher : Universitas Gadjah Mada

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Abstract

Human immunodeficiency virus infection in children and infants has some different characteristics compared to that in adults, including the transmission, the clinical manifestations and the clinical course. Many factors are associated with the vertical transmission, among others are maternal antigen p24 level, viral load, CD4+ -cell number, zidovudine therapy, and the presence of anti-Gp 120. Growth and development failure, interstitial pneumonia, and hepatomegaly are found in almost all pediatric AIDS. Lymphoid interstitial pneumonia (LIP) has a high frequency in vertical AIDS. Pneumocystic carinii pneumonia (PCP) as early complication occurs in about 10% of children with AIDS and has high mortality. Gastrohepatobillary dysfunction caused by various opportunistic microorganisms are common; disaccharidase intolerance also frequently occurs. The longer the children alive the higher the cardiac abnormalities. Neurologic abnormalities are found in 90% of vertical AIDS. The clinical course and the prognosis of vertical infection is associated with the maternal virus load, symptomatic HIV and p24 antigenemia, the lower the CD4+ cells in the mother, and the characteristic of the virus. The increased p24 antigenemia in the first 6 months of life, the opportunistic infections, and the progressive neurologic disease are related also to bad prognosis. Laboratory based diagnosis of HIV infection in infants is difficult especially due to the presence of maternal antibody. A number of tests is now under studies to find reliable and practical diagnostics, including polymerase chain reaction (PCR) of liquid or dried blood samples. IgA and other practical kit tests. HIV infected children show lower response against vaccinal antigens than normal infants. Anyhow, vaccination with killed vaccines is recommended for all HIV infected infants, including diphtheria, tetanus, killed polio. HIV infected children show response against H. influenzae vaccine. The advantages of BCG vaccination are weighted against the disadvantages. Varicella and hepatitis-B vaccine effectivity need further studies.Key words: pediatric HIV - vertical transmission - clinical manifestation - prognostic factor - laboratory diagnostics - recommended vaccination

Confidence interval in the analysis of clinical signicance

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 29, No 03 (1997)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

In the clinical study researchers want to answer the most important question whether a new therapy is better than the old one. Many researchers continue to frame the question in terms of null hypothesis and answer the question in terms of P value. The null hypothesis itself is typically not plausible, and even in a study where the null hypothesis was plausible, our concern is typically not only limited to the issue of whether or not the treatment has any effect but we also want to know how much the impact. In the study which the researcher pressed the P value into service as an indicator of effect size, it, lends itself to misinterpretation because it combines information about the magnitude of an effect with information about the precision with which that effect is estimated. By contrast, confidence intervals (Cis) focus ones attention on an estimate of a more meaningful parameter (e.g. the rate difference) and, as a separate matter, on the precision of the estimate. The CI is a range of values that is likely to cover the true but unknown value (the extremely low up to the extremely high value of e.g. rate difference, mean difference, and Odds Ratio) if we measure the value many times on samples using the same method. Cis in a clinical trial where the result is statistically significant we might find that it is of no clinically Importance (in a very large sample). On the other hand, the effect of a treatment might be statistically not significant but In fact it is of clinical importance (in a small sample). Cl Is affected by sample size: the larger the sample size the narrower the interval of Cl. The interval Is also affected by the standard error and hence by standard deviation and the confidence level we claim. The higher the confidence level (90%, 95% or 99%, arbitrarily 95% Cl is commonly used) the wider the confidence interval. In case that the 95% Cl does not include zero value (in mean or proportion difference) or one (in Odds ratio or relative risk) it also reflects statistical significance (p<0.05) with a = 5%. A sample size that is enough in terms of power might not be enough in terms of precision due to the confidence Interval level we choose.Key Words : P value - confidence interval - clinical importance - sample size - statistical significant

Aspek-AspekPenyakit Perdarahan Dalam Praktek Pada Anak

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 13, No 02 (1981)
Publisher : Universitas Gadjah Mada

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Abstract

Hemorrhagic diathesis in pediatrics, covering the mechanism of hemostasis and the diagnostic and therapeutic aspects, is discussed.Hemorrhagic cases due to various causes are not uncommon in children. It is essential to understand aspects of hemorrhagic diathesis to be able to manage such cases efficiently. The diagnostic approach should be in an ordered fashion. By such a way and by understanding the principles of management, even with limited facilities, we can diagnose and treat many cases and at least recognize difficult cases and act appropriately before referring.Key Words: hemorrhagic diathesis - mechanism of hemostasis - hemophilia - purpura - hypoprothrombinemia

Diagnostik molekular thalassemia

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 28, No 01 (1996)
Publisher : Universitas Gadjah Mada

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Abstract

A diagnosis of thalassemias has advanced from clinical to molecular in concordance with the advances in molecular biology. Since the introduction of polymerase chain reaction procedure - a practical in vitro procedure of deoxyribonucleic acid amplification - various diagnostic methods have been developed, to detects either gene deletions or point mutations. In a population where the spectrum of mutations is not too heterogenous, direct methods such as dot blot or reverse dot blot hybridization, ligase chain reaction and amplification refractory mutation system may be applied with high effectivity dan efficiency. But, in a population where the spectrum of mutations is very heterogenous other methods such as mismatch analysis, denaturing gradient gel electrophoresis and single strand conformation analysis as the screening step followed by deoxyribonucleic acid sequencing are chosen. Each of the above methods has advantages and shortcomings, in relation to various problems among others the sensitivity, the specificity, the ease, the reproducibility and the cost.In this paper the molecular diagnostics, concerning the principle, the advantages and the shortcomings, espebially that have been used in the field are discussed.Key words: gene disorders - ligase chain reaction - dot blot and reverse dot blot hybridization - amplification refractory mutation system - denaturing gradient gel electrophoresis - single strand conformation analysis - chemical cleavage of mismatch

Hemophilia with intracranial bleeding - A case report

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 27, No 01 (1995)
Publisher : Universitas Gadjah Mada

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Abstract

A hemophiliac boy was hospitalized due to head injury in the previous sixteen days. On admission the consciousness decreased and visus of both eyes was 1/on. CT scan showed blood clot in the area of dorsomedial of medial cerebral arteria and sign of hydrocephalus. A surgical procedure could not be taken due to lack of facilities (antihemophilic factor supply and assay of factor VIII activity). The patient was given 6 cryoprecipitate everyday and supportive treatment as indicated. Fortunately the patient recovered, no neurologic complication occurred except the visus of the right eye that was still 1/oo and the hydrocephalus decreased.Key words : hemophilia - laboratory diagnostics - head injury - hydrocephalus and decreased visus - cryoprecipitate

Talasemia di Rumah Sakit Umum Pusat Dr. Sardjito Tahun 1986 - 1992

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 26, No 03 (1994)
Publisher : Universitas Gadjah Mada

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Abstract

Thalassemia is a great health problem in the affected countries, especially in the developing countries including Indonesia. There is no curative therapy up to now, while the supportive therapy should be done life4ong and such therapy brings many problems to the patients and an enormous burden to the community who should afford the health services.Ninety thalassemia syndrome, at Dr. Sardjito General Hospital during the period of 1986-1992 were retrospectively studied. The diagnosis was based on clinical manifestations, routine blood examination, HbF investigation either with alkali denaturation test or electrophoresis and on the evidence of trait in the parents. Thirty six patients had undergone molecular studies. Aspects of therapy were also studied.The study found that 57 and 33 patients were major thalassemia and thalassemia-hemoglobin E disease, respectively. There was no difference between major thalassemia and thalassemia-hemogolobin E disease in term of male and female proportion (p > .05), and on the level (p > .05). Foutty eight patients came from Yogyakarta Province, the rest came from various parts of Java, especially nearby Yogyakarta Province. Compared with the estimation, we conclude that many thalassemic patients had not yet been covered. The expenses for supportive therapy were so great, while most of the patients belonged to the middle to low sosioeconomic level, so that only 30-40% had come regularly for routine transfusion. Among the 36 patients who underwent molecular studies, 31 have been genotypically identified. Molecular diagnostic was aimed at the first step of prenatal diagnosis.Key words: thalassemia syndrome-thalassemia trait-blood transfusion-molecular study-prenatal diagnosis

Molecular pathogenesis of thalassemia

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 25, No 02 (1993)
Publisher : Universitas Gadjah Mada

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Abstract

Since the first description in 1925, thalassemia has been studied intensively and extensively. Thalassemia is inherited by Mendelian recessive genes, in which there is a mutation or deletion of the DNA nucleotide or results in defective production of one or more globin chains of the hemoglobin. There are two important forms of tha/assemias, a- and ft-thalassemia that are health problems in the tropical belt, extending from Africa and Meditenanian countries up to West Melanesia. The molecular studies of thalassemia and other hemoglobinopathies had discovered such a lot of abnormal hemoglobin structures and pathogenesis of the disease, so that the hemoglobin is now indeed a paradigm for our understanding of gene action at the molecular level. The thalassemia occurs essentially due to deletion, whereas 13thalassemia is mostly due to mutation of the gene(s). The understanding of the molecular pathogenesis of thalassemia is very essential for the diagnosis of the trait and especially for prenatal diagnosis, and in the future might be for genetic therapy.Key Words: thalassemia gene deletion gene mutation polymerise chain reaction haemoglobin

Analysis of haplotype associated with mutation in a-thalassemia

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 27, No 03 (1995)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

B-thalassemia is mainly caused by point mutation of B-gene. There are more than 130 mutations, while only a little more than 20 haplotypes in B-gene. Many types of mutation are assosiated with one haplotype. On the other hand, one type of mutation may be associated with more than one chromosome haplotypes. The association of mutation and haplotype raises many questions. An analysis of haplotype has proved to be very useful to discover many aspects of thalassemia. The occurrence of certain mutation in a population might be predicted from the common haplotype of the population. Haplotype has been used to answer the question whether a certain mutation has multiple or single origin; for example the multiple origin of BE-gene in Cambodian population and the single origin of codon 39(CAG -+TAG) are associated with nine different haplotypes in Sardinia. It is suggested that haplotype probably influences the manifestation of thalassemia resulting in thalassemia intermedia.Key words : thalassemia - haplotype - point mutation - recombination - phenotype

Analysis of haplotype associated with mutation in a-thalassemia

Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 27, No 03 (1995)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

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Abstract

B-thalassemia is mainly caused by point mutation of B-gene. There are more than 130 mutations, while only a little more than 20 haplotypes in B-gene. Many types of mutation are assosiated with one haplotype. On the other hand, one type of mutation may be associated with more than one chromosome haplotypes. The association of mutation and haplotype raises many questions. An analysis of haplotype has proved to be very useful to discover many aspects of thalassemia. The occurrence of certain mutation in a population might be predicted from the common haplotype of the population. Haplotype has been used to answer the question whether a certain mutation has multiple or single origin; for example the multiple origin of BE-gene in Cambodian population and the single origin of codon 39(CAG -+TAG) are associated with nine different haplotypes in Sardinia. It is suggested that haplotype probably influences the manifestation of thalassemia resulting in thalassemia intermedia.Key words : thalassemia - haplotype - point mutation - recombination - phenotype

Co-Authors 08.05.52.0064 Novi Perwitasari 09.05.52.0075 Lia Yuliana 10.05.52.0010 Dwi Sulistyowati 10.05.52.0030 Christina Dewi 12.05.52.0210 Resty Andini Putri, 12.05.52.0210 12.52.02.0204 Kinayah, 12.52.02.0204 12.5202.0172 Sukowati 1352020069 Prijatno Sri Eko Putranto, 1352020069 1352020070 Teguh Purnomo, 1352020070 1352020104 Pujadi, 1352020104 1352020105 SRI HERANINGSIH, 1352020105 A, Reo A. Samik Wahab, A. Samik Abdurrachman, Mirzam Adi Nugroho Adi Ratriyanto Adnan Sofyan Afiana Praditasari, Afiana Agres Vivi Susanti Agung Budi Raharjo Agung Budiharjo Agus Candra Agus Naryoso Agus Prasetyo Budi Agustian Ipa Aji Setiawan Alimuna, Wa Allen Yeoh, Allen Amalia Yunika Putri, 13.05.52.0204 Ana, Testian Yushli Anada Leo Virganta, Anada Leo Andi Suhardiyanto Andriani, Beti Angga Dwi Pratama, 14.05.52.0003 Angga Widhi Saputro Anggun Parameswari, Anggun Anindya Ratna Pratiwi Annisa Arum Putri Anton Styo Wibowo, Anton Styo Ardang, Rifvan Yuniar Ari Setyowati Arief, Ahmad Fikri ARIF INDIARTO, ARIF Arifin Arifin Arintina Rahayuni Aristiati, Kun Ariyanti, Wahyu Arizona, Meivy Armeina Nur Rachmawati ARTINI PANGASTUTI Arum, Rizki Sekar Asri Nugraheningtyas Astuti, Satria Dwi Aulia, Vina Auliya Hakim, Muhammad Andi Ayi Yustiati Azhari Azhari Azizzah, Farah B. Setiawan Baedhowi Baedhowi Bagus Indrawan, Bagus Bambang Sigit Bambang Wasito Adi Bardi Murachman Baskoro Adi Prayitno Bayu Setya Hertanto Cahyo, Reza Dwi cahyono, hadi Carlina Soetjiono Chairunnisa Chairunnisa Condro Hadi Mulyono, Condro Hadi David David DEWI IRAWATI Dewi Kusuma Wardani Dhimas Arvico, 13.05.52.0138 Djarot Sadharto, Djarot Djati Mardiatno Dwi Pratama, 14.05.52.0003 Angga Dwi Ratnawati, Dwi EDWI MAHAJOENO Eka Kusumawati, Eka Eka Wahyudi Eko Haryono Eko Mujiyanto, 13.05.52.0092 Endah Tri Wahyuni Endang Widjayanti LFX Erland, Radja Ernawan Setyono Euis Soliha F.X. Hartono Fasani, Rizkan Faif Fattah, Fuad Abdul Febrianto, Aji Sofian Feri Setyowibowo Gema Paku Bumi Gumilang, Anggita Moro Hani Faurizka Happy Ade Permanasari Hardyanto S HARI SUTRISNO Harini Harini Harlistyanti, Ryna Hartono Hartono Hartono, Rudy Harwanto, Dody Candra Herbowo Hardianto Hermin Poedjiastoeti Hersugondo Hersugondo Heru Santoso Wahito Nugroho, Heru Santoso Wahito Hosiana MD Labania Idham Halid Ikhsan Jaslin, Ikhsan Ilham Futaki Indra Surjati Indrawati, Like Intan Permata Sari, 12.05.52.0029 Isna Putri Indayani, Isna Putri Isni Nurruhwati Iva Yuniasih, 14.05.52.0001 JaisSetiawan, 13.05.52.0232 Jaslin Ikhsan Jayanti, Noviana Luthfi Jazilah, S. Joko Riyanto Joko Sutrisno Jonet Ariyanto Nugroho, Jonet Ariyanto Junun Sartohadi Kristanto, Alfa Kristiani Kristiani Kristiara, Sandy Kristiawan, Dona Kuat Rahardjo TS Kusuma Putri, Devi Ayu Kusumo, Pandansari Langgeng Wahyu Santosa Latif Sahubawa Leidena Sekar Negari Leny Noviani Lestari, Wijayanti Puji Lia Faiqoh Luasunaung, Alfred Luqmana Chakim, 15.05.52.0010 M Masykuri Manik, Astri Marita Martien Herna Susanti Mintasih Indriayu, Mintasih Muchamad Yulianto Muhammad Cahyadi, Muhammad Muhammad Sabandi, Muhammad Muhammad, Arfaningsi Mujadid, Ahmad Zahry Muslimawati, Claudia Musripah, 14.05.52.0098 N Wahyuningsih, N N Widyas, N Nachrowi D. Nachrowi Naibaho, Lamhot Neazar Astina Prabawani Nimas Hayuning Anggrahita, Nimas Hayuning Ningsih, Maulida Fajari Noor Sudiyati Novita Sekarwati, Novita Nugroho Tri Waskitho Nugroho, Dowes Ardi Nurcholis, Muhammad Nurfiatin, Titin Nurrohmah, Elida Nurul Dwi Dhamayanti, 15.05.52.0096 Nurul Khakhim Okid Parama Astirin Oktapiandi, Oktapiandi P, Azlhimsyah Rambun Pamenan, Azlhimsyah R. Pancawati Hardiningsih Paransa, Isrojaty Johanes Paringsih, Novia Citra Perdana, Firdaus Pinkky Sisvianingrum, 13.05.52.0049 Ponendi Hidayat Prabang Setyono Pramuwardani, Ida Pranoto Pranoto Pranoto, Wahyu Yudha Prasetyanta, Eka PRASETYO ANI PUJIASTUTI, 1252020126 Prasica Rudy Artha, 12.05.52.0191 Prastyanti, Katisya Abrina Pratami, Vivin Alfyana Yulia Pratiwi, Ervin Devi Pristiati, Tutut PUJI LESTARI Purba, Gandi YS Putri Endah Kurnia, 12.05.52.0134 Rachmawati Meita Oktaviani Rachmawati, Susan Rahayu, Slamet Mardiyanto Rahayu, Slamet Mardiyanto Rahmi Lubis Ramdani Salam Rani Rakhmaputri Wiranto Rara Sugiarti Regina Tutik Padmaningrum Reina Widianingrum, 14.05.52.0159 Reni Dyah Ayu Nur Fatimah, Reni Dyah Ayu Nur Reny Rahayuningsih, 13.05.52.0189 Rialdi, Rio Rianawati, Titik Rizaldi, Rizaldi Rois, Ibnu Rosyid Hidayah, Rosyid Rudy Yoga Lesmana S.A. Bachtiar, S.A. 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Totok Sumaryanto Florentinus, Totok Sumaryanto Tri Retnasari, Tri Triana Setyawardani Triyanto Triyanto Triyono Lukmantoro Triyuliati Triyuliati Turnomo Rahardjo Tutik Fitri Wijayanti Tutik Wahyuni Tutik Wahyuningsih* Tyas, Eden Handayani Tyastuti, Erma Musbita Ubad Badrudin Udi Utomo Ula, Husnal Utami Utami Utomo Utomo Vita Kartikasari, Vita Wadiyo Wadiyo, Wadiyo Wahyu Sejati, Wahyu Wardhani, Puspita Indra Warsinah Warsinah Wibowo, Totok Wahyu Widha Sunarno Widianingrum, Reina Wijaya, Barkah Bangkit Wijayanti Endang, Wijayanti Wiryanto Wiryanto Wiwid Noor Rakhmad Wiyono, Joko Wulan Widiyanti, Wulan Wulandari, Yun Ismi Y B P. Subagyo, Y B Yasarah Diswari Ditiya, 15.05.52.0204 Yatimin Yatimin Yeow Liang, Yeow Yudiantoro, Dwi Fitri Yuli - Andriani Yuli Kurnia Ningsih Yuliyati Yuliyati, Yuliyati Yunianingsih, Era Yuwono Setiadi, Yuwono