Indian J Med Res
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Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been identified to be the founder variant causing alkaptonuria among Narikuravars, a group of gypsies settled in Tamil Nadu. Methods Blood and urine samples of 30 homozygous splice site donor variant individuals (2 groups aged 7-20 and 21-83 yr, with 9 and 21 individuals, respectively), carriers and 30 wild-type individuals from the Narikuravars were collected during field visits after obtaining informed consent. ⋯ Increasing age showed a positive correlation with circulating mean plasma HGA levels and a negative correlation with excreted HGA. Interpretation & conclusions As per the authors' knowledge, this is the first study to confirm the functional effect by RT-PCR of this highly prevalent founder HGD variant causing alkaptonuria in the Narikuravar community. Both plasma and urinary HGA levels correlated well with the gene expression of this variant and could serve as potential markers of AKU severity for those with this variant.
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Background & objectives The emergence of drug resistance in leishmaniasis has remained a concern. Even new drugs have been found to be less effective within a few years of their use. Coupled with their related side effects and cost-effectiveness, this has prompted the search for alternative therapeutic options. ⋯ Molecular dynamics (MD) simulations demonstrated that both drugs form stable complexes with the target enzyme. In vitro studies of posaconazole and isavuconazole against promastigotes of L. major demonstrated significant efficacy, with IC50 values of 2.062±0.89 µg/ml and 1.202±0.47 µg/ml, respectively. Interpretation & conclusions The study showed that the existing FDA-approved drugs posaconazole and isavuconazole can successfully be repurposed for treating L. major by targeting the CYP51 enzyme, demonstrating significant efficacy against promastigotes.
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Background & objectives Dengue virus causes frequent outbreaks and epidemics with high morbidity and mortality. It is important to monitor the trends of the dengue virus and its serotypes. We carried out the present work to study the prevalence of the dengue virus and its serotypes in clinically suspected cases of dengue in Rajasthan. ⋯ DENV-2 and DENV-3 were the predominant serotypes during 2015 to 2017, while DENV-1 and DENV-2 were predominant during 2018 to 2022. Interpretation & conclusion The findings of this study suggest that the dengue positivity in Rajasthan was the highest in post-monsoon season among adult males. The serotype prevalent varied from time to time and was helpful in understanding the changing epidemiology of DENV.
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Background & objectives The COVID-19 pandemic underscores the significance of vaccination in mitigating disease spread, with Covishield and Covaxin serving as pivotal vaccines in India. Breast milk, rich in vital antibodies like IgA and IgG, plays a crucial role in enhancing the immune defence of breastfeeding infants. However, limited research exists on the antibody responses in breast milk among individuals receiving single versus double doses of the COVID-19 vaccine. ⋯ Interpretation & conclusions This study underscores the significance of COVID-19 vaccination in impacting IgA and IgG antibody presence in breast milk. Completing the double-dose regimen correlated with higher IgA and IgG levels, emphasizing the benefits of complete vaccination. These findings contribute to understanding vaccination's impact on maternal-infant health.
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Background & objectives Cancer is one of the leading causes of death among older adults worldwide. The global burden of cancer among older individuals is increasing due to the ageing population. The increasing burden of cancer among older adults will pose significant social and economic challenges for the delivery of healthcare services. ⋯ The number of new cancer cases among older adults is expected to rise from 11.3 to 19.8 million (a 75.2% increase) and deaths from 3.99 to 7.3 million (82.8% increase) by 2040. Interpretation & conclusions The expected rise will bring exceptional challenges to healthcare systems, especially in lower- or lower-medium-income countries where resources are limited. Data on cancer among older adults will help health planners and policymakers develop global geriatric cancer control policies.