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Journal : Paediatrica Indonesiana

Variable Severity of B-Thalassemia/Hemoglobin E Disease - the Genetic Factors

Paediatrica Indonesiana Vol 37, No 1-2 (1997): January-February 1997
Publisher : Indonesian Pediatric Society

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Abstract

Hemoglobin E (Hb E) is prevalent in Southeast Asia. Heterozygotes give no manifestation, even homozygotes show no manifestation or only slight anemia. However, compound heterozygote with 6-thalassemia gives anemia with variable severity. The severely affected individuals show anemia similar to homozygous 6-thalassemia. Many factors play a role in determining the severity. SThnl/6E patients have increased superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) activities. The increased GSH-Px is thought to be needed for the elimination of hydrogen peroxide produced by SOD decomposition of peroxide. The content of antioxidants vitamine E and C is reduced, whereas MDA, the final product of lipid peroxidation increases significantly. The genotype of the Xmn 1 polymorphism, -158 bases upstream from the transcription site of the n-globin and the level of Hb F are associated with clinical severity, but the extent of the S -globin mRNA cryptic splicing is more associated with the severity of tire manifestation than does the pattern of the Xmn I polymorphism.

Pericarditis and Pleuritis Caused by Extramedullary Plasmacytoma

Paediatrica Indonesiana Vol 30 No 11-12 (1990): November 1990
Publisher : Indonesian Pediatric Society

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Abstract

The following illustrates a case study of a 9 years-old girl with combined pericarditis and pleuritis caused by solitary extramedullary plasmacytoma. Pericardiocentesis and permanent thoracocentesis were performed, both yielded serohemorrhagic and serous fluid in succession. In the beginning etiological diagnosis was made on the basis of the clinical pattern for tuberculosis infection and growth of three species of bacteria for bacterial infections and candida species for candidiasis. The initial treatment was in accordance with the etiological diagnosis mentioned above. The final diagnosis was establish in the fourth month after the discovery of plasmacytoma in the pleural fluid and CT scan examination disclosing masses in the right lung. Accordingly, cytostatic therapy was started. The result of therapy was very good, exudation into the pleural and pericardia/ sac regressed gradually and eventually ceased completely. According to the literature the prognosis of these neop/asma is good.  

Takayasu s Disease

Paediatrica Indonesiana Vol 30 No 11-12 (1990): November 1990
Publisher : Indonesian Pediatric Society

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Abstract

A fourteen years old girl developed Takayasu s arteritis (pulseless disease) since six months prior to investigation. This unusual form of arteritis is common in Japan and Korea but has rarely been reported in individuals born in the United States. In Indonesian literatu;e it has never been documented so far. The etiology is unclear. The literature currently but forward the hypothesis of an autoimmune basis and treatment with steroid. Although a tuberculin sensitization pathogenesis has been suggested, a close temporal relationship with the onset of a tuberculous process has not previously been documented. The likelihood of uncovering tuberculin sensitivity or active tuberculosis in patients with Takayasu, arteritis is substantially higher than in the general population in all countries analyzed. The natural history of his arteritis is highly variable. The adolescent described in this paper has demonstrated no response either  to antituberculosis therapy, or to heparin and corticosteroid as suggested by Ishikawa, 1987. The patient died on the 59th day of hospitalization after getting syncopal attacks followed by shock.

Translocation ETS leukemia-acute myeloid leukemia 1 (TEL-AML1) gene fusion in childhood acute lymphoblastic leukemia

Paediatrica Indonesiana Vol 49 No 5 (2009): September 2009
Publisher : Indonesian Pediatric Society

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Abstract

Background Acute lymphoblastic leukemia (ALL) in childrenis a heterogeneous disease with different subtypes based on their cellular and molecular characteristics. This condition wouldinfluence the treatment outcome and subsequent risk for relapse. Accurate assignment of individual patients to risk groups is a critical issue for better outcome. TEL-AML1 gene fusion is themost frequent in childhood ALL.Objective The aim of this study was to investigate the incidenceofTEL-AML1 children with ALL in Sardjito Hospital.Methods This was a cross sectional study. In this preliminarystudy, we used nested reverse-transcriptase polymerase chainreaction (RT-PCR) to analyze the present of TEL-AML1 genefusion in bone marrow sample of childhood ALL patients.Results We analyzed 41 samples. Out of these, 30 (73%) wereamplified. Twenry three out of 30 ALL patients with good medicalrecord were analyzed for this gene fusion. Out of 30 patients, there were five patients (17%) with TEL-AML1-positive gene fusion and 25 (83%) were TEL-AML1-negative. Among five patients with TEL-AML1-positive gene fusion, four patients (80%) were one year to less than 10 year old. All of the patients (100%) were with leukocyte < 50x109/L.Conclusions TEL-AML1 gene fusion was found in 17 % ofsamples. This gene fusion was more frequent in standard risk group (based on age and leukocyte). These data must be clarified with more samples. RT-PCR must be apply in all center as one part of improving diagnostic quality, especially in managing leukemia patients.

Prenatal Diagnosis of Thalassemia

Paediatrica Indonesiana Vol 33 No 7-8 (1993): July 1993
Publisher : Indonesian Pediatric Society

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Abstract

Thalassemia is an individual as well as a community health problem in some countries. It causes a lifelong suffering for the affected individuals. There is no treatment other than supportive, i.e. regular transfusions and removal of iron overload from the body. Only by such continuous and expensive treatment thalassemic patients can-generally achieve nearly normal health, but the health burden of such therapy for a large number of thalassemic patients is unaffordable by the affected communities. Prevention of the births of thalassemic babies is the choice for controlling the thalassemia and has been successful in many countries. For this purpose reliable and time accurate prenatal diagnosis is a conditio sine qua non. Blood fetal sampling is safe and can be done after 16 weeks gestation, amniocentesis after 14 weeks, and even chorionic villi sampling as early as 8 weeks gestation. In vitro globin synthesis analysis applied to the fetal blood sample is very reliable to measure the rate of synthesis of the globin chains that make up the hemoglobin. The-DNA analysis of the fibroblasts obtained by amniocentesis or of the chorionic villus sample is very sensitive and specific for the diagnosis of the genetic disorder in thalassemias. By involving the prenatal diagnosis, the birth of B-homozygous thalassemia has decreased by up to 90%.

Thrombocytopenia in Dengue Hemorrhagic Fever

Paediatrica Indonesiana Vol 32 No 3-4 (1992): March 1992
Publisher : Indonesian Pediatric Society

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Abstract

According to WHO thrombocytopenia is one of the diagnostic criteria of DHF. On the other hand many studies have reported DHF cases without evidence of thrombocytopenia. One hundred fifty nine DHF out of485 suspected cases were assessed for their platelet counts. Diagnosis of DHF was established based on the WHO criteria, and confirmed by the hemagglutination inhibition test. The platelet counts were done serially and intensively by phase contrast microscope from the first day of hospitalization until the patient's discharge. In 77 patients thrombocytopenia appeared for the first time during hospitalization. Mild thrombocytopenia appeared in almost all of these cases before thrombocyte count of 100,000 reached. Seventy two patients had shown thrombocytopenia on the day of admission. No thrombocytopenia was found on the second day of illness, the earliest time of the detection of thrombocytopenia was on the Jrri and the latest was on the 8th day of illness. Thrombocytopenia lasted 1-5 days. It is concluded that many DHF diagnosis would have been missed if the thrombocyte investigation had not been done serially and intensively. Mild thrombocytopenia in DHF suspected patients should call attention to do platelet investigation intensively in those cases.

Aids in Infants and Children

Paediatrica Indonesiana Vol 32 No 11-12 (1992): November 1992
Publisher : Indonesian Pediatric Society

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Abstract

 Children are infected by HIV, 80% vertically, from HIV infected mothetS mostly near or at delivery. Because heterosexual transmission of HIV among adults is more and more important it is estimated that at the end of this century there will be totally more than 10 million HIV infected children. Three quarters of HIV-infected babies show non specific symptoms at the early phase, including failure to thrive, chronic diarrhea, recurrent bacterial injections, mucocutanous infection. Cytotropism of HIV to neroe cells resul.ts tn inflammation, neroe cell damage and neuronal loss. Progressive neurologic abnormalities and developmental milestone regression or developmental retardation will be the results. Pneumocystics carinii infection has worse prognosis than lymphocytic interstitial pneumonia which more commonly occurred in HIV injected children. Diarrhea is a troublesome problem in children with AIDS. Kaposi's sarcoma and secondary cancer are rare in pediatric AIDS.  Anemia and thrombocytopenia is common among AIDS children. In developing countries children with AIDS die within the year following the appearance of the symptoms, whereas asymptomatic HIV-injected children will live longer with high risk of recurrent and opportunistic injections. The hallmark of AIDS in children is the same as in adults,iI.e. the decrease of the number and function of CD4 lymphocytes. This in turn influences the junctions of other immunocompetent cells and loss of immunity is the result. Many things are still unexplainable in children AIDS.

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. Safrudin, Dwi Sagaf Faozata Adzkia, Sagaf Faozata Saiful Bachri Salman Alfarisy Totalia Sangaji, Niko Sari, Reza Nepilia Sari, Siti Kartika Sayudi, Dewi Sri Septiani Septiani Setyo Prihatin, Setyo Shalihuddin Djalal Tandjung, Shalihuddin Djalal Sigit Heru Murti, Sigit Heru Sigit PRASTOWO Sintha, Aga Dwi Sishayati, Sishayati siti marwati Siti Nurjanah SITI RACHMAWATI Slamet Suprayogi Soebardi, Aris Sofia Mubarika Sopaheluwakan, Ardhasena Sri Budi Lestari Sri Budiastuti Sri Handayani Sri Mawarni, Sri Sri Mulatsih Sri Noor Mintarsih, Sri Noor Sri Waluyanti Sri Widowati Herieningsih Suardi, Rofiandri Sudarmadji Sudarmadji Sudarno Sudarno Sudibiyakto Sudibiyakto Sudiyono Sudiyono Suherman Suherman Sukanadi, Made Sumardino Sumardino Sumarno Sumarno Suparji Suparji, Suparji Suprijatmi, Tanti Supriyanto Supriyanto Suproborini, Arum Surya, Ferry Hendra Susanto J Susila Kristianingrum Sutaryo Sutaryo Sutrisno sutrisno Sutriyono, Toto Suwarno Suwarno Suyanto Hadi Syahudi, Giman Syofia Rahmayanti, Syofia Tandiyo Pradekso Tandjung, Djalal Titi Yuli Astuti, Titi Yuli Titik Kuntari Tomi Yuniardi M, 12.05.52.0120 Totok Sumaryanto F. 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