Genotype-Phenotype Profile of Beta-thalassemia.

BACKGROUND: Beta thalassemias are extremely heterogenous hereditary monogenic blood disorders and preventable genetic hemolytic anemia caused by >200 mutations in HBB gene. In Nepal, it is more prevalent in Tharu tribe but it seen in other communities as well. Out of more than 200 mutations of beta globin gene, approximate 20 different alleles are responsible for >80% of the mutations. Mutations vary in different geographic population and are responsible for manifestation of different phenotypes. This study was done to find common mutations of HBB gene in Nepal which were responsible for different phenotypic manifestations and to know clinical severity according to the mutations. METHODS: This was a descriptive, cross sectional study conducted in the pediatric and medicine department of Nepalgunj Medical College and Bheri Zonal Hospital, Nepalgunj from January 2020 to December 2020. The genotype and phenotype profiles of thalassemia cases were reported. The data was analyzed by SPSS 20. RESULTS: The results obtained showed that clinical presentation differed with different ß-globin gene mutations present. Individuals with HBB:c.47G>A and HBB:c.20A>T/ c.79G>A mutations showed milder presentation than those with HBB:c.47G>A/-619del and HBB:c.20A>T/c.47G>A. CONCLUSIONS: Therefore, these findings can be used to predict clinical severity so that we can take appropriate measures by early genotype identification for prenatal diagnosis of beta thalassemia.

Internalized stigma related to COVID-19 and its psychosocial and mental health correlates: a multicentric health facility based observational study from Nepal.

Introduction: The COVID-19 pandemic has led to physical and psychological complications and social consequences in the form of illness-related stigma. This study aimed (1) to assess the sociodemographic and clinical variable, as well as COVID-19 related knowledge and perception of persons admitted for COVID-19/Suspected COVID-19 in Nepal, (2) to determine their levels of COVID-19- related internalized stigma, depression, and anxiety symptoms, and (3) to evaluate the correlates of COVID-19- related internalized stigma. Materials and methods: It was a cross-sectional exploratory study with a convenience sample of 395 participants (306 confirmed cases, 89 suspected cases) conducted between July-October 2020 in four health facilities in Madhesh and Lumbini provinces of Nepal. We used a semi-structured questionnaire to assess sociodemographic details, clinical information, COVID-19-related knowledge, perception, COVID-19-related internalized stigma, and the Hamilton Anxiety Depression Scale (HADS) in Nepali language. Descriptive statistics, correlation analyses, and linear regression analyses were performed. The level of statistical significance was considered at p < 0.05. Results: Around 23.3% of the patients had anxiety symptoms, 32.9% had depressive symptoms, and 20.3% had high COVID-19-related internalized stigma (mean ISMI score: 2.51-4.00). Linear regression analyses showed a significant positive association of COVID-19-related internalized stigma total score, with the following eight factors, i.e., no income in the past one month (p = 0.013), below average socioeconomic status (p = 0.004), anxiety symptoms (p = <0.001), depressive symptoms (p = <0.001), recent testing positive for COVID-19 (p = <0.001), involuntary admission (p = <0.001), prior experience of being in isolation and quarantine (p = 0.045), and those who blame others for COVID-19 (p = 0.025). Conclusion: COVID-19 survivors and suspects are vulnerable to symptoms of depression, anxiety, and COVID-19-related internalized stigma. For the first time from Nepal, our data suggests that COVID-19-related internalized stigma is associated with anxiety and depression symptoms, perceived below-average socioeconomic status, involuntary admission, prior experience of being in isolation and quarantine, recent COVID-19 positive report, self-blame, below-average socioeconomic status and no income in the past one month. Mitigating and preventing internalized stigma associated with a public health crisis such as COVID-19 is imperative by diagnosing and treating such mental health issues early and designing interventions and policies especially targeting vulnerable populations focusing on their economic background and socio-cultural beliefs.

Intentional pesticide poisoning and pesticide suicides in Nepal.

INTRODUCTION: Intentional pesticide poisoning is a major clinical and public health problem in agricultural communities in low and middle income countries like Nepal. Bans of highly hazardous pesticides (HHP) reduce the number of suicides. We aimed to identify these pesticides by reviewing data from major hospitals across the country and from forensic toxicology laboratories. METHODS: We retrospectively reviewed medical records of 10 hospitals for pesticide poisoned patients and two forensic laboratories of Nepal from April 2017 to February 2020. The poison was identified from the history, referral note, and clinical toxidrome in the hospitals and from gas chromatography analysis in the laboratories. Data on demographics, poison, and patient outcome were recorded on a data collection sheet. Simple descriptive analysis was performed. RESULTS: Among hospital cases (n = 4148), the commonest form of poisoning was self-poisoning (95.8%) while occupation poisoning was rare (0.03%). Case fatality was 5.3% (n = 62). Aluminum phosphide (n = 38/62, 61.3%) was the most commonly identified lethal pesticide for deaths. Forensic toxicology laboratories reported 2535 deaths positive for pesticides, with the compounds most commonly identified being organophosphorus (OP) insecticides (n = 1463/2535; 57.7%), phosphine gas (n = 653/2535; 25.7%; both aluminum [11.8%] and zinc [0.4%] phosphide) and organochlorine insecticides (n = 241/2535; 9.5%). The OP insecticide most commonly identified was dichlorvos (n = 273/450, 60.6%). CONCLUSION: The data held in the routine hospital medical records were incomplete but suggested that case fatality in hospitals was relatively low. The pesticides identified as causing most deaths were dichlorvos and aluminum phosphide. Since this study was completed, dichlorvos has been banned and the most toxic formulation of aluminum phosphide removed from sale. Improving the medical record system and working with forensic toxicology laboratories will allow problematic HHPs to be identified and the effects of the bans in reducing deaths monitored.