Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; ...however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether blood count metrics, such as the Shine & Lal index (SLI; MCV*MCV*MCH/100), might serve as a predictor to screen thalassemia carriers in a limited resource area where molecular methods are not readily available.
During a family gathering of thalassemia patients, family members (n196) underwent a complete blood count test. Those with MCV < 80 fL and/or MCH < 27 pg and/or SLI < 1530 were further examined for Hb analysis. Only samples with HbA2 fraction > 4% or with a peak in the HbE fraction were sequenced to confirm β-globin gene mutations.
Of 196 family members, 117 (59.6%) had low MCV and/or low MCH and/or low SLI. The HbE fraction (mean 24.06% ± 0.95, range 22.4-26.5) was found in 27 (13.7%) cases, and all had a mutation at codon (CD)26 (c.79G > A). The mean HbA
fraction in these samples was 3.18% ± 0.62 (range 2.6-3.8). For samples with HbA2 > 4% (n30; 15.3%), all had mutations at IVS1nt5 (c.92 + 5 G > C; n28), CD8/9 (c.27_28insG; n1) and CD19 (c.59A > G; n1). The mean HbA
fraction with a mutation at IVS1nt5 (c.92 + 5 G > C) was 4.65% ± 0.77 (range 4.0-5.6). Interestingly, anaemia was only present in 25 and 57% of β-thalassemia carriers with mutations at CD26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), respectively.
The Shine & Lal index is helpful in the early screening of β-thalassemia carriers, since this index confirms mutations at CD-26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), which are both common mutations in Bandung, Indonesia. Further DNA analysis is a topic of interest to map variants in globin genes and their distribution across populations.
The evidence of using JAK inhibitors among hospitalized patients with COVID-19 is conflicting. The systematic review and meta-analysis aimed to address the efficacy of Janus Kinase (JAK) Inhibitors ...in reducing risk of mortality among hospitalized patients with COVID-19.
Several electronic databases, including PubMed, EuropePMC, and the Cochrane Central Register of Controlled Trials, with relevant keywords “COVID-19″ AND (“JAK inhibitor” OR “Ruxolitinib” OR “Tofacitinib” OR “Fedratinib” OR “Baricitinib”) AND (“Severe” OR “Mortality”), were used to perform a systematic literature search up to December 11, 2020. All studies pertinent to the predetermined eligibility criteria were included in the analysis. Our outcome of interest was all types of mortality, clinical improvement, and clinical deterioration. Dichotomous variables of our outcomes of interest were analyzed using Maentel-Haenszel formula to obtain odds ratios (ORs) and 95% confidence intervals (CI) with random-effects modeling regardless of heterogeneity.
Five studies with a total of 1190 patients and were included in this systematic review and meta-analysis. The use of JAK inhibitors was associated with a reduced risk of mortality (OR 0.51, 95% CI 0.28–0.93, P = 0.02; I2: 7.8%, P = 0.354) and clinical improvement (OR 1.76, 95% CI 1.05–2.95, P = 0.032; I2: 26.4%, P = 0.253). The use of JAK inhibitors was not associated with a reduced risk of clinical deterioration (OR 0.58, 95% CI 0.28–1.19, P = 0.136; I2: 24.1%, P = 0.267).
The use of JAK inhibitors was significantly associated with a reduced risk of mortality, and clinical improvement in hospitalized patients with COVID-19.
Latar belakang. Jenis kelasi besi oral deferipron dan deferasiroks banyak digunakan penyandang talasemia untuk mencegah komplikasi hemosiderosis. Dalam penelitian yang berbeda, masing-masing terbukti ...efektif mengurangi komplikasi hemosiderosis akibat transfusi darah. Tingkat kepatuhan sangat memengaruhi keberhasilan terapi dan tingkat kepatuhan pengobatan dapat dipengaruhi regimen kelasi besi.Tujuan. Mengetahui hubungan jenis dan tingkat kepatuhan pengobatan kelasi oral terhadap kadar feritin serum pada penyandang talasemia beta mayor anak. Metode. Penelitian observasional analitik dengan rancang potong lintang, dilaksanakan Januari-Februari 2019. Subjek adalah penyandang talasemia beta mayor di Rumah Sakit Dr. Hasan Sadikin, secara consecutive sampling. Wawancara menggunakan kuesioner Morisky Medication Adherence Scale-8, pemeriksaan serum feritin. Uji statistik menggunakan uji korelasi rank Spearman, uji perbandingan Mann Whitney, Kruskal Wallis dengan kemaknaan nilai p<0,05.Hasil. Terdapat 60 responden dengan kategori patuh sebanyak 38%, kategori tidak patuh sebanyak 62%. Kelompok dengan pemberian deferipron menghasilkan kadar feritin serum lebih rendah dibandingkan dengan kelompok deferasiroks (p<0,007). Kelompok patuh menghasilkan kadar feritin serum lebih rendah dibandingkan kelompok tidak patuh (p<0,001). Perbandingan feritin serum berdasarkan kombinasi jenis dan tingkat kepatuhan kelasi besi, didapatkan hasil kelompok deferipron-patuh memberikan nilai berbeda signifikan dibandingkan kelompok lainnya (p<0,001).Kesimpulan. Sebagian besar penyandang talasemia beta mayor tidak patuh mengkonsumsi obat kelasi besi. Pemberian deferipron dengan kepatuhan baik, menghasilkan kadar feritin serum paling rendah.
Background: Germ cell tumor (GCT) occurs in 3% of pregnancy malignancies and increases by 15% during adolescence. In developing countries, the five-year survival rate is 98% and 80% for GCT earlier ...stage and malignant tumor, respectively. This study aimed to gather information about clinical manifestations of GCT and to evaluate the treatment outcome in pediatric GCT patients at Dr. Hasan Sadikin General Hospital, Bandung, IndonesiaMethods: A descriptive cross-sectional study design with a total sampling method was conducted using secondary data from the medical record of pediatric patients diagnosed with GCT from 2015 to 2018. Data on nutritional status, clinical characteristics, histopathology stage, hematological profiles, chemical markers, treatment methods, completeness of treatment, and outcome at the end of treatment were collected and presented using tables and charts.Results: Of the 44 subjects, girls (77.3%) were predominant, with a mean age of 2 years old and normal nutritional status (59.1%). Patients generally had abdominal mass (97.7%) and most had intragonadal GCT (95.5%), with ovarium (76.2%) as the most common location. The most frequent GCT histopathology was yolk sac tumor (34.1%), with an Alpha-fetoprotein (AFP) level of >100.000 (6.8%). Almost all patients (97.7%) had undergone surgery; however, 47% of patients did not complete their treatment. At the end of treatment, the majority of patients survived (86.4%).Conclusion: Germ cell tumor has various clinical characteristics. Understanding these characteristics will enable clinicians to make a proper diagnosis and provide immediate management that will lead to a better prognosis.
Background. Immunocompromised patients are at a higher risk of having latent tuberculosis infection (LTBI). QuantiFERON-TB Gold Plus (QFT-Plus) has been proven to perform effectively in LTBI ...detection among immunocompromised adults and can overcome the limitations of the tuberculin skin test (TST). However, the role of QFT-Plus in detecting LTBI in immunocompromised paediatric patients has not been well established. Therefore, the aim of this study was to assess the test agreement between QFT-Plus and the TST in LTBI detection among immunocompromised children. Method. In this cross-sectional study, we enrolled immunocompromised paediatric patients, aged between 5 and 18 years, who were treated with corticosteroids and/or chemotherapy from June to November 2019. We categorized them into three groups based on the following diseases: hematologic malignancies and nephrological and immunological diseases. We recorded the patient characteristics and QFT-Plus and TST results, in which the positive result of the TST was induration≥5 mm. Within the same group, comparisons between the two tests were performed using the McNemar test, and results were statistically significant for p values of <0.05. The kappa index was used to assess the agreement between the two test results. Results. Among 71 patients (median age: 11.8 years) who underwent TST and QFT-Plus testing, 52% were females, and 69% had a normal nutritional status. Chemotherapy was the most common treatment modality for hematologic malignancy compared to other immunosuppressive treatments. The total number of patients with positive QFT-Plus and TST results was 11/71 (15.5%) and 4/71 (5.6%), respectively, among whom 3/11 patients had positive results in both tests, and one patient with positive TST results exhibited a discrepancy, as this was not followed by positive QFT-Plus results. QFT-Plus generated more positive results than the TST in immunocompromised children (McNemar, p=0.039 (p<0.05)). The diagnostic agreement between the tests was fair (K=0.345, 95% CI: 0.05–0.745). Conclusion. QFT-Plus detected LTBI more effectively than the TST in immunocompromised children.
Background: Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcomas (STS) in children. Even though the survival rate has increased, the mortality rates remain significantly higher in ...developing countries due to delay in diagnosis contributed by its diverse and clinical manifestations. This study aimed to describe the clinical characteristics of RMS patients at the Department of Child Health, Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. Methods: A descriptive cross-sectional retrospective study was conducted using a total sampling method on medical records of RMS patients aged ≤ 18-year-old during a 4-year period (2015-2018). Data on patient demographics, clinical manifestations, biopsy procedure, histopathological subtype, tumor size, primary site, pre-treatment staging, and treatment were reviewed and presented. Results: Of 30 data retrieved, male (57%), aged 1 to 5-year-old (47%), and diagnosed through open biopsy (63%) comprised the majority of the patients. More than half of the patients came with advanced stage of the disease (80%) and were treated with chemotherapy (83%). Most RMS patients had a tumor located in the head and neck region (40%) with a size of >5 cm (70%) and embryonal subtypes (43%). The remaining patients experienced alveolar subtype (17%), spindle cell subtype (13%), and unknown subtype (27%) of RMS. Conclusion: Children with a tumor in the head and neck region should be suspected as rhabdomyosarcoma, as there are various clinical characteristics of RMS in children found in this study.
Latar belakang. Talasemia beta mayor merupakan penyakit genetik dengan gangguan sintesis rantai globin yang menimbulkan eritopoiesis tidak efektif sehingga membutuhkan transfusi darah rutin. Terapi ...tersebut menyebabkan kelebihan besi di berbagai organ termasuk di hati dan pankreas yang memengaruhi enzim hepatik lipase yang mengatur regulasi metabolisme lipid. Tujuan. Mengetahui korelasi kadar feritin dengan profil lipid pada penyandang talasemia beta mayor anak. Metode. Penelitian observasional analitik dengan rancang potong lintang, dilaksanakan November - Desember 2018. Subjek adalah penyandang talasemia beta mayor di Rumah Sakit Hasan Sadikin, secara consecutive sampling. Dilakukan pemeriksaan serum feritin, trigliserida, kolesterol total, low density lipoprotein (LDL), dan high density lipoprotein (HDL). Uji statistik menggunakan uji korelasi rank Spearman dengan kemaknaan nilai p<0,05.Hasil. Terdapat sampel sebanyak 40 penderita talasemia beta mayor, 20 perempuan dan 20 laki-laki. Rerata serum feritin 4328,2 mcg/L, kolesterol total 93,78 mg/dl, HDL 20,65 mg/dl, LDL 52,95 mg/dl, dan trigliserida 154,95mg/dl. Tidak didapatkan korelasi antara feritin dengan kolesterol total dan LDL (p>0,05). Terdapat korelasi antara kadar feritin terhadap kadar serum kolesterol HDL dan trigliserida (r= -0,349, p=0,029 dan r= 0,460, p=0,003). Kesimpulan. Terdapat korelasi negatif antara kadar feritin terhadap kolesterol HDL dan korelasi positif terhadap trigliserida. Semakin tinggi feritin, semakin rendah HDL, semakin tinggi trigliserida.
Natural killer (NK) cells act both as cytotoxic and cytokine producers in the innate immune response. Hyperferritinemia resulting from a routine blood transfusion as a specific treatment in major ...β-thalassemia patients may disturb the cellular immune system’s harmony. This study aims to investigate the correlation between hyperferritinemia and the NK cell subsets in major β-thalassemia settings. Pediatric major β-thalassemia patients who routinely received a blood transfusion at Dr. Hasan Sadikin General Hospital in 2016 were included in this cross-sectional study. Blood samples were treated with the monoclonal antibody of CD3, CD56, and CD16 to count the NK cells subsets as CD56bright, CD56dim, and CD16+ using flowcytometry. CD69+ used as an activation marker. The median fluorescence intensity (MFI) of CD56, CD16, and CD69 was measured. Total iron-binding capacity (TiBC), ferritin, and serum iron level examined as iron status. A Spearman correlation test was used for statistical analysis. Fifty-five blood samples were obtained for analysis. This study reveals that the percentage of CD3− lymphocyte population was correlated with the ferritin levels (r=−0.45, p=0.0009). Positive correlation was revealed between activated population (CD69+) of CD56bright and CD56dim NK cell subsets and hyperferritinemia (r=0.353, p=0.008) and (r=0.355, p=0.008). The activated CD56bright cells was associated with ferritin level (r=0.353, p=0.008) and TiBC (r=0.334, p=0.018). Hyperferritinemia in pediatric major β-thalassemia patients may influence NK cell subsets' balance population, particularly the CD56bright and CD56dim NK cell subsets, then alter their immune response to pathogens. KORELASI ANTARA HIPERFERITINEMIA DAN SEL NATURAL KILLER TERAKTIVASI PADA ANAK DENGAN TALASEMIA BETA MAYORSel-sel natural killer (NK) telah diketahui memiliki peran sitotoksik dan dalam produksi sitokin pada respons imun bawaan. Hiperferitinemia merupakan hasil dari transfusi darah rutin yang dijalani sebagai terapi utama pada talasemia mayor. Penelitian ini bertujuan mempelajari hubungan hiperferitinemia dan sel NK pada talasemia beta mayor. Penelitian potong lintang ini melibatkan anak dengan talasemia beta mayor yang secara rutin menerima transfusi darah di RSUP Dr. Hasan Sadikin selama tahun 2016. Sampel darah diberi marker CD3, CD56, dan CD16 untuk menghitung subset sel NK sebagai CD56bright, CD56dim, dan CD16+ menggunakan flowcytometry. CD69+ digunakan sebagai penanda aktivasi. Median fluorescence intensity (MFI) CD56, CD16, dan CD69 diukur. Kadar TiBC, ferritin, dan Fe serum diperiksa sebagai status besi. Uji korelasi Spearman digunakan pada analisis statistik. Analisis dilakukan terhadap 55 sampel darah anak dengan talasemia. Penelitian ini mendapatkan populasi limfosit CD3 berkorelasi dengan kadar feritin (r=−0,45; p=0,0009). Korelasi positif didapatkan pada populasi teraktivasi (CD69+) dari subset sel CD56bright dan CD56dim NK serta hiperferitinemia (r=0,353; p=0,008) dan (r=0,355; p=0,008). Sel CD56bright teraktivasi berkorelasi dengan kadar feritin (r=0,353; p=0,008) dan TiBC (r=0,334; p=0,018). Hiperferitinemia pada anak dengan talasemia mayor dapat memengaruhi populasi sel NK, khususnya pada subset CD56bright dan CD56dim sehingga berpengaruh pada respons imun terhadap patogen.
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