Indian J Med Res
-
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.
-
Background & objectives Our study aims to provide the diversity of stem cell use for non-malignant, non-haematological diseases in India through the lens of clinical trials. Methods A PRISMA approach was used to evaluate the safety and efficacy of stem cell use for the period 2001-2021 in India. The outcomes were measured using each disease category, types of stem cells, the origin of stem cells, safety, and efficacy. ⋯ The study revealed 37 randomized clinical trial studies conducted in the government research hospital compared to the non-government. Interpretation & conclusions Maintaining the gold standard for stem cell therapy requires randomized clinical trials with large sample sizes, control groups, failures, adverse effects, etc. It is important to have a monitoring and regulation system in stem cell clinical research activities with enough preclinical data and repeated exchanges between the bench and the bedside.
-
Multicenter Study
Surveillance for surgical site infections developed during hospital stay & after discharge: A multicentric study.
Background & objectives Surgical site infections (SSIs) are among the most prevalent healthcare-associated infections (HCAIs). They cause significant morbidity, leading to excess health expenditures and increased length of hospital stay. Despite a high population burden, data on post-discharge SSIs is lacking from low-and middle-income countries (LMICs). ⋯ Clean, polluted wound class and surgeries lasting longer than 120 minutes were substantially linked to an increased risk of SSI. Interpretation & conclusions Post-discharge surveillance helped with the detection of 66 per cent of SSI cases. Combination surgeries were seen to increase the risk of SSIs in patients.
-
Background & objectives Cancer is a leading cause of death worldwide and constitutes a public health priority. Delays in diagnosis and treatment of cancer can adversely impact survival, recovery, and cost of treatment. The objective of this study was to estimate the proportion seeking timely care among those having early warning signals for oral, breast or cervical cancer and to explore the facilitators and barriers to early detection. ⋯ Interpretation & conclusions Although very few people were identified to have early warning symptoms using CBAC, a substantial proportion of them sought medical care and underwent confirmatory diagnosis. Screen positivity rate and treatment-seeking behaviour were better among women undergoing opportunistic cervical cancer screening in the health centres. Measures need to be taken to improve health literacy among people to reduce diagnostic delay for cancers.