Background: Hemoglobin H (HbH) disease is alpha thalassemia characterized by inactivation of three of four α-globin genes due to deletions with or without non-deletional α-thalassemia. Hb Quong Sze (Hb QS) is a very rare non-deletional α-thalassemia in Indonesia caused by a CTGLeu>CCGPronucleotide substitution at codon 125 of α2 globin gene generating highly unstable hemoglobin. Compound heterozygosity for Hb QS and Southeast Asian double α-globin gene deletion (--SEA) result in accumulation of b-globin tetramers, causing hemolytic anemia.Case Report: A 49 years old Chinese Indonesian female was assessed for thalassemia screening. The phenotype of the proband was normal and only mild anemia was noticeable. She experienced blood transfusion five years ago due to a sudden fall of hemoglobin level after malarial infection. Complete blood count found hemoglobin 8.3 g/dL, Mean Corpuscular Volume (MCV) 65.7 fl and Mean Corpuscular Hemoglobin (MCH) 17.1 pg. HbH disease suggested by abundant Hb H inclusion bodies in the red blood cells. Microcapillary hemoglobin electrophoresis result showed HbH 31.8 %, Hb Bart 0.4%, HbA 67.3% and HbA2 0.5%. Molecular studies were carried out using multiplex polymerase chain reaction (PCR) method, and the common a0-thalassemia(--SEA) was detected in one allele. Direct sequencing analysis of the α1 and α2 globin genes revealed Hb QS in the other allele.Conclusion: Non-deletional Hb H disease due to compound heterozygous of Hb QS with Southeast Asian double α-globin gene deletion (--SEA) has a very low incidence in Indonesia. An advanced molecular analysis should be performed to determine this rare mutation.
Latar Belakang: Penggunaan antibiotik yang tidak tepat dapat meningkatkan kejadian resistensi antibiotik yang pada akhirnya meningkatkan morbiditas, mortalitas, dan biaya kesehatan. WHO telah merekomendasikan untuk dilakukan kajian rasionalitas penggunaan antibiotik dalam rangka mengatasi masalah resistensi antibiotik. Tujuan: Menganalisis kualitas dan kuantitas penggunaan antibiotik di instalasi rawat inap Rumah Sakit Nasional Diponegoro (RSND). Metode: Penilaian kualitas dan kuantitas penggunaan antibiotik dilakukan berdasarkan DDD/100 pasien–hari dan kriteria van der Meer–Gyssens. Penelitian dilakukan secara retrospektif pada 86 rekam medis pasien yang didapatkan dengan metode consecutive sampling. Hasil: Terdapat 141 peresepan antibiotik dalam 86 rekam medis. Azithromycin, levofloxacin, dan ceftriaxone merupakan antibiotik terbanyak yang digunakan dengan nilai DDD/100 pasien–hari 48,12; 44,01; dan 21,13. Berdasarkan kriteria Gyssens, 35,4% penggunaan antibiotik dengan bijak, 51,1% penggunaan antibiotik dengan tidak bijak, dan 13,5% tidak ada indikasi penggunaan antibiotik. Berdasarkan tipe terapi didapatkan ADE 89,4% dan ADET 10,6%. Kesimpulan: Secara kuantitas, antibiotik yang paling banyak digunakan adalah azithromycin. Secara kualitas, 35,4% antibiotik digunakan dengan bijak berdasarkan kriteria Gyssens. Kata kunci: DDD/100 pasien-hari; kriteria Gyssens; penggunaan antibiotik; penyakit dalam
Introduction: A point mutation of codon 59 (GGC ➞ GAC) of the α2-globin gene, known as haemoglobin (Hb) Adana, contributes to various kinds of α-thalassemia syndrome. This case report described a patient who had heterozygous alpha-thalassemia 3.7 kb deletion and hemoglobin adana. Case report: We report a case of a 17-year-old boy who was referred for the investigation of persistent anemia. His peripheral blood film was consistent with mild hemolytic anemia, without HbH inclusions. Normal HbA2 levels without HbH and HbBart peaks. Both his parents had normal Hb levels, but his mother presented with mild microcytosis. DNA analysis revealed a compound heterozygote for one gene deletion (α-3.7) thalassemia and CD59 (GGC→GAC) mutation in the α2-globin gene. The mother was heterozygous for Hb Adana, and the father was heterozygous for α-3.7. Conclusion: This case report emphasizes the need to consider Hb Adana detection in the absence of HbH inclusions and normal Hb analysis. Therefore, DNA analysis is strongly suggested to confirm the diagnosis and improve the management of thalassemia patients.
Background: Obesity is excessive and abnormal fat accumulation thus harmful to health. Increase in body mass index (BMI) in obesity, also accompanied by increase hormon which synthesized and released by adipose tissue informs the brain for controlling hunger and food intake that is Leptin. Leptin plays a role in chronic inflammatory process of obesity. Leptin receptor was detected in human platelets and high concentration of leptin reported to promote platelet aggregation. The platelet parameters examination is a cheap, easy, and routinly done in daily basis, which consist of platelet counts, mean platelet volume (MPV), platelet distribution width (PDW), platelet large cell ratio (PLCR), plateletcrit (PCT), which indicates platelet proliferation. The aim of research was to look the relationship of leptin with thrombocyte parameter in obesity people. Methods: Cross sectional study of 45 obese adults, based on Pendahuluan: Obesitas adalah penumpukan lemak berlebih dan abnormal yang berbahaya bagi kesehatan. Peningkatan indeks mssa tubuh (IMT) pada obesitas juga diiringi dengan peningkatan hormon pengatur nafsu makan yang diproduksi pada jaringan adiposit yaitu, Leptin. Leptin berperan dalam proses inflamasi kronis pada obesitas. Reseptor leptin terdapat di trombosit dan dengan jumlah yang tinggi dapat memicu agregasi platelet. Parameter trombosit merupakan pemeriksaan rutin, murah dan kita lakukan sehari-hari, terdiri dari jumlah trombosit, Mean platelet volume (MPV), platelet distribution width (PDW), platelet large cell ratio (P-LCR), plateletcrit (PCT), yang menggambarkan proliferasi kinetik trombosit. Tujuan penelitian mencari hubungan leptin dengan parameter trombosit pada orang obesitas. Metode: Penelitian potong lintang pada 45 orang dewasa usia produktif menderita obesitas berdasarkan kriteria RISKESDAS dengan IMT>27, dilakukan pada bulan Mei-September 2018. RISKESDAS criteria with BMI>27, on Mei-September 2018 was done. Venous blood collected in EDTA and plain tube. The EDTA sample was used for complete hematological examination to obtain platelet parameters by Hematology analayzer with impendace method. Serum from plain tube used for leptin examination was measured by ELISA. Data were analyzed by Pearson and Spearman correlation test. P-value < 0,05 was consideres as significant. Results: There is no correlation between leptin and platelet count (r=0,051, p=0,740), MPV (r=0,021, p=0,891), PDW (r=-0,093, p=0,541), P-LCR (r=0,082, p=0,593), and PCT (r=0,079, p=0,605). Conclusion: There is no correlation between leptin and platelet parameters in obesity. Further studies need to be done with adding another characteristic such as inflammation markers, metabolic syndrome parameters and platelet activation
BACKGROUND: Serum levels of 25-hydroxyvitamin D (25(OH)D), prostaglandin E2 (PGE2), and cyclooxygenase 2 (COX2) expression differ between breast cancer stages. Since, previous studies showed mixed results, in this study, we aimed to analyze vitamin D levels related to breast cancer stages and serum levels of COX2 and PGE2 in Indonesia.METHODS: This was a cross sectional study involving 75 breast cancer patients. Subjects were divided into 3 groups, namely operable early stage (K1), locally advanced stage (K2), and advanced stage (K3). Venous blood samples were taken from each subject, then were analyzed for the 25(OH)D, COX2, and PGE2 serum levels by enzyme-linked immunosorbent assay (ELISA) method.RESULTS: There were significant differences in 25(OH)D among groups (p=0.012); between K1 and K2 (p=0.009) and between K1 and K3 (p=0.023). However, there was no significant difference in serum COX2 level (p=0.328). There were significant differences of PGE2 among groups (p=0.002); between K1 and K2 (p=0.036) and between K1 and K3 (p=0.001). Correlation test showed that there were differences between 25(OH)D serum levels and PGE2 serum level (r=0.306, p=0.008) and also between 25(OH)D serum level and breast cancer stage (r=-0.229; p=0.048).CONCLUSION: There were differences in serum Vitamin D and PGE2 levels at various stages of breast cancer. Serum 25(OH)D levels had weak correlation with breast cancer stage and PGE2 serum level. Serum vitamin D level in advanced breast cancer were lower than early stage breast cancer and indicate a poor prognosis.KEYWORDS: breast cancer, 25-hydroxyvitamin D, cyclooxygenase 2, prostaglandin E2
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