Dasril Daud

Phenotypic variability of Filipino β°-thalassemia/HbE patients in indonesia

Three Indonesian patients with identical genotypes, each compound heterozygotes for Filipino β°‐thalassemia/HbE, expressed different clinical severities. One patient has mild disease and is transfusion independent, while the other two are severely affected and transfusion dependent. The size of the Filipino β°‐globin gene deletion was confirmed to be 45 kb, resolving conflicting values given in the literature. Neither ameliorating genetic factors such as α‐globin gene deletions or the XmnI restriction site polymorphism at position ‐158 upstream of the Gγ‐globin gene, nor differences in β‐globin gene haplotype, explain the phenotypic variation. These observations have implications for the development of antenatal diagnosis in Indonesia, as at present it is not possible to give an accurate prediction of severity of phenotype for this common genotype. Am. J. Hematol. 62:7–12, 1999.

The Hemoglobin O mutation in Indonesia: distribution and phenotypic expression

AbstractWe have investigated hemoglobin O Indonesia (HbOIna) in related ethnic populations of the Indonesian archipelago: 1725 individuals of the five ethnic populations of South Sulawesi (Bugis, Toraja, Makassar, Mandar, and Kajang) and 959 individuals of the neighboring islands, who were divided into five phylogenetic groups: (a) Batak; (b) Malay from Padang, Pakanbaru, and Palembang in the island of Sumatra; (c) Javanese-related populations (Java, Tengger, and Bali) from the islands of Java and Bali; (d) populations of the Lesser Sunda Islands of Lombok, Sumba, and Sumbawa; and (e) the Papuan-language-speaking population of Alor Island. Nineteen individuals heterozygous for HbOIna were identified from the Bugis, Toraja, Makassar, and Kajang ethnic populations, but none from the other populations. In all cases, the underlying mutation was found to be in codon 116 (GAG to AAG) of the α1-globin gene, resulting in the Glu116Lys amino acid change. The level of HbO in the 17 individuals plus 12 additional family members carrying the mutation was found to be 11.6 ± 1.0%, significantly lower than the expected 17%–22%, indicating the instability of HbO.

Perawatan Singkat Demam Tifoid pada Anak

Demam tifoid (DT) merupakan penyakit endemis yang hingga kini masih merupakan masalah kesehatan di Indonesia. Angka kejadian cukup tinggi dan tidak sedikit anak yang memerlukan perawatan di rumah sakit. Saat ini perawatan konvensional penderita demam tifoid anak mengacu pada penderita dewasa. Perawatan seperti ini pada anak dirasakan terlalu lama sehingga perlu pengeluaran biaya besar yang dapat merupakan beban bagi orang tua penderita. Oleh karena itu perlu dicari terobosan baru untuk perawatan yang lebih singkat tetapi efektif. Untuk maksud tertentu di atas telah dilakukan uji klinik di Bagian Ilmu Kesehatan Anak FK UNHAS Ujung Pandang pada bulan Juni 1999 sampai dengan April 2000. Tujuan penelitian ini adalah untuk mengevaluasi secara klinis dampak perawatan singkat dibandingkan dengan perawatan konvensional pada penderita DT anak. Tujuh puluh penderita DT anak telah diikut sertakan dalam penelitian ini terdiri dari 34 anak perempuan dan 36 anak laki-laki dengan umur antara 4,2–13,2 tahun. Diagnosis ditegakkan berdasarkan gambaran klinik dibantu dengan pemeriksaan laboratorium. Penderita dibagi menjadi 2 kelompok yaitu kelompok perawatan singkat dan perawatan konvensional yang ditentukan secara acak (random sampling). Pada perawatan konvensional penderita istirahat mutlak sampai dengan 10 hari bebas demam sedangkan pada perawatan singkat 5 hari bebas demam. Karakteristik sampel dalam hal distribusi jenis kelamin, status gizi, lamanya demam di rumah, suhu pada waktu masuk rumah sakit, konstipasi, kadar Hb, hitung lekosit, hasil titer Widal dan biakan darah adalah sama (pada kedua kelompok). Untuk distribusi umur secara statistik terdapat perbedaan bermakna antara kedua kelompok masingmasing dengan umur rerata 8,43 tahun untuk perawatan singkat dan 10,69 tahun untuk perawatan konvensional. Hasil penelitian ini mengungkapkan bahwa selama perawatan semua penderita DT sembuh secara klinis tanpa ada penyulit saluran cerna (perdarahan dan perforasi usus) atau relaps pada kedua kelompok. Dari hasil penelitian ini dapat disimpulkan bahwa tidak ada penyulit saluran cerna (perdarahan dan perforasi usus) ataupun relaps pada penderita yang dirawat singkat maupun yang dirawat secara konvensional.

Plasma lipids as risk factors in relapsing nephrotic syndrome

Background Nephrotic syndrome is primarily a pediatric disorder and is 15 times more common in children than in adults. Relapse rate after corticosteroid discontinuation is 39 - 59%. Hyperlipidemia is an important characteristic of nephrotic syndrome. The plasma concentrations of cholesterol, triglyceride, LDL, and VLDL are increased. Persistent hyperlipidemia after remission can be found in frequent relapse nephrotic syndrome. Objective To determine plasma lipids as risk factor for relapsing nephrotic syndrome. Methods Thirty children with nephrotic syndrome were included in this cohort study from March 2005 until June 2007 at Wahidin Sudirohusodo Hospital, Makassar. Thirty children without renal disease were enrolled as control. Blood specimens were collected to determine plasma lipids (cholesterol, triglyceride, LDL, and HDL) levels and LDU HDL ratio. Plasma lipids were examined in the acute and remission phases. Follow up was carried out six months after remission to determine the occurrence of relapsing nephrotic syndrome. Results Of 30 nephrotic syndrome patients, 12 had relapsed. There were highly significant differences in total cholesterol, HDL, LDL, triglyceride, and LDL/HDL ratio between acute nephrotic syndrome and nephrotic syndrome in remission. There were no significant differences in cholesterol, LDL, triglyceride, LDL! HDL ratio between nephrotic syndrome in remission and control. There was also no significant difference in the incidence in relapse between first attack and nephrotic syndrome with more than two attacks. Acute lipid fraction levels were not risk factors in relapsing mephrotic syndrome. Remission triglyceride level was a risk factor in relapsing nephrotic syndrome with the prevalence risk of 5.2 and CI 95% of 1.06 to 25.3. Conclusion Persistent hypertriglyceride in remission phase is associated with an increased risk of relapse in children with nephrotic syndrome.

Identification of risk factors for recurrent febrile convulsion

Background Febrile convulsion (FC) occurs in about 2 to 4 percent of all children, approximately one third of whom will then develop recurrent febrile convulsion (RFC). Risk factors for RFC are family history of convulsions, an age of less than 18 months, a relatively lower temperature and shorter duration of fever preceeding the first FC. Objective The aim of the study was to determine the risk factors for RFC. Methods One hundred children aged 6 months to 5 years with FC or RFC were included in this case-controlled study, which was carried out from July 2006 to June 2007. Data on the childrens first FC were collected from medical records and the family history was taken directly from the parents. Results Fifty children with RFC and 50 children without recurrence were included in this study. An age of less than 18 months (P< 0.0001, COR= 71.37), a family history of FC (P< 0.0001, COR= 6.00), and a fever duration ofless than 12 hours preceding the first FC (P< 0.0001, COR = 4.96) were associated with a risk of recurrence. A relatively lower degree of temperature at first febrile convulsion did not increase the risk for RFC (P = 1.21). Multivariate logistic regression showed that younger age and shorter duration of fever preceding the first FC were associated with RFC. Conclusion Younger age and shorter duration of fever preceding the first FC are associated with an increased risk ofRFC.

Clinical benefits of vitamin A supplementation in infants and children with severe pneumonia

Background About 190 million preschool children living in developing countries are at risk of vitamin A deficiency. Vitamin A deficiency and acute respiratory tract infection (ARI) are public health problems in developing countries. Children with vitamin A deficiency are more susceptible to measles, respiratory tract infection, and other infections. Some studies show that vitamin A supplements may reduce the severity of respiratory tract infection and other systemic complications of measles, and diarrhea. Objective To evaluate the effect of vitamin A supplementation in infants and children with severe pneumonia. Methods The study was a randomized trial on children with severe pneumonia. Participants were randomly assigned to either receive vitamin A in addition to standard treatment (Group A), or standard treatment alone (Group C). Time to achieve the normal respiratory rate, time to achieve disappearance of subcostal retractions and fine rales were compared between the 2 groups. Result There was no significant difference in the achievement of normal respiratory rate between the vitamin group and the control group (3.08 days vs 3.29 days). There was also no significant difference in the disappearance of subcostal retractions among the two groups (2.30 days vs 2.48 days). However, there was significant difference in the disappearance of fine rales between the two groups. The disappearance of fine rales in the vitamin A group occurred earlier (mean 3.72 days) than in the control group (mean 4.04 days) (P<0.01). Conclusions This study indicates that no significant difference in the achievement of normal respiratory rate and disappearance of subcostal retractions between the vitamin A group as compared to the control group, but there was a significant difference in the disappearance of fine rales between two groups.