Objectives: The study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anaemia (SCA) and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 Phosphate Dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate. Results: The 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic metod using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3 %) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.
ObjectivesThe study was carried out to optimize the phenotypic method to characterize the sickle cell trait (SCT), sickle cell anemia (SCA), and β-thalassemia (β-TT) suspected sample from tharu community of South Western province-5, Nepal. SCT and SCA were further evaluated by genotypic method employing amplification refractory mutation system (ARMS PCR). Moreover, Glucose 6 phosphate dehydrogenase (G6PD) was estimated in those hemoglobinopathy to observe its prevalence. The accurate and reliable method can play an important role in reduction of morbidity and mortality rate.ResultsThe 100 suspected cases were subjected to phenotypic method adopting cellulose acetate electrophoresis and genotypic method using ARMS PCR which portraits (5%) SCA positive test showing HBS/HBS, (38%) SCT positive trait HBA/HBS and (36%) cases normal HBA/HBA. β-TT (21%) cases were confirmed by electropherogram. G6PD deficiency was observed in (40%) of SCA, (18.4%) of SCT, (4.8%) of β-TT and (2.8%) in normal cases. Increased G6PD were developed only in SCT (5.3%) and β-TT (4.8%). The study highlighted sickle cell disorder (SCD) and β-TT as the most common hemoglobinopathy coexisting with G6PD deficiency. Though hemoglobinopathy sometime could be protective in malaria but G6PD deficiency can cause massive hemolysis which may exacerbate the condition.
Objective: To translate and validate the velopharyngeal insufficiency (VPI) effects on life outcomes (VELO) instrument into Nepali, and test its internal consistency and validity. Design: Quality-of-life instrument translation and validation. Setting: Community served by Nepal’s craniofacial referral hospital. Participants: Twenty-three postpalatoplasty children with VPI, 19 family guardians of VPI cases, and 29 non-VPI controls. Interventions: The VELO instrument was translated to Nepali by 2 independent bilingual translators, reconciled, backward-translated, compared, and modified using patient cognitive interviews. All VPI children, guardians, and controls completed the VELO-Nepali. Main Outcome Measure(s): The VELO internal consistency was evaluated using Cronbach α coefficient. Concurrent validity and discriminant validity were assessed using 2-sample t test: assuming unequal variances. Results: The VELO was translated and optimized using cognitive interviews. The VELO-Nepali demonstrated excellent internal consistency, with Cronbach α coefficients of 0.93, 0.94, and 0.90 for VPI cases, guardians of VPI cases, and non-VPI controls, respectively. The VELO-Nepali exhibited strong discriminant validity between VPI cases ([Formula: see text] = 45.4, standard deviation [SD] = 22.1) and non-VPI controls ([Formula: see text] = 84.9, SD = 12.3), ( P < .001). The VELO-Nepali showed strong concurrent validity with similarities in VPI case scores ([Formula: see text] = 45.4, SD = 22.1), and guardian scores ([Formula: see text] = 52.9, s = 22.8; P = .473). Conclusion: The translated VELO-Nepali demonstrates strong internal consistency, discriminant validity, and concurrent validity, and can assess quality of life for Nepali VPI patients. This instrument represents the first VPI quality of life assessment validated in Nepali, and supports the feasibility of its implementation in other low- and low-middle-income countries.
Histoplasmosis, a fungal infection caused by Histoplasma capsulatum (H. capsulatum), acquired from contaminated soil with droppings of chicken or birds and found to be distributed in many parts of the world. The prevalence of histoplasmosis has not well studied in Nepal. The common symptoms of acute and epidemic histoplasmosis include high fever, cough, and asthenia and weight loss. Most of the infections associated with histoplasmosis are asymptomatic. People with compromised immune systems such as HIV/AIDS (PLWHA), cancer, and organ transplant recipients are at risk of developing this disease. In this review, we have summarised the current status of histoplasmosis in Nepal and molecular techniques available for its identification. To date, the significant outbreak is not reported in Nepal, but the risk of infection for the vulnerable population cannot be undermined. Appropriate preventive measures and treatment on time can reduce the burden of this fungal disease. Further, this review is also focused on molecular identification of H. capsulatum. Hence, careful considerations by concerned stakeholders for national surveillance programs and the treatment of patients on time after proper diagnosis is highly recommended.
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