Pohsnem F, Nongrum MS, Sarkar R
… +1 more, Albert S
Indian J Med Res
· 2025 Dec · PMID 41648973
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Background & objectives India accounts for seven per cent of the global cancer burden, with the highest incidence reported from the northeastern region. To address this burden, the Government of India launched the Nation...Background & objectives India accounts for seven per cent of the global cancer burden, with the highest incidence reported from the northeastern region. To address this burden, the Government of India launched the National Programme for Prevention and Control of Cancer, Diabetes, Cardiovascular Diseases and Stroke (NPCDCS) in 2010, but this programme was implemented in Meghalaya four years after its launch. This paper aims to examine the implementation facilitators and barriers to cancer prevention in Meghalaya within the NPCDCS framework. Methods A desk review prior to the interviews enabled selection of relevant stakeholders from the health system. In this qualitative study, fifty-six healthcare professionals and frontline health workers from various tiers of the health system were involved through twenty in-depth interviews (IDIs) with healthcare professionals and four focus group discussions (FGD) with the frontline health workers. Data were transcribed in local language and subsequently in English. A hybrid coding strategy was adopted and a codebook was developed in MS Excel (version 16.6). NVivo-12 software was used to organize the data and codes, facilitating the identification and categorisation of emergent themes in alignment with the research question. Results While the programme is intended to provide equal attention to cancer prevention activities, hypertension and diabetes took priority. Barriers included inadequacy in information, education, and communication content on breast and cervical cancers; unavailability of acetic acid for cervical cancer screening; and lack of privacy for cancer screenings. Communication gaps stem from the absence of patient tracking mechanism and programme review meetings at NCD clinics. Training inadequacies affected staff confidence in conducting screenings, while low community awareness compromised the accuracy of data collated for the community-based assessment checklist. Preference for traditional healers further complicated the treatment pathways. Interpretation & conclusions Meghalaya's high cancer incidence underscores the urgency to address these gaps for efficient implementation of the cancer activities within NPCDCS framework.
Indian J Med Res
· 2025 Dec · PMID 41648972
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Background & objectives Living at high altitudes causes chronic exposure to hypoxia, which triggers various physiological and autonomic adaptations, and many residents show successful acclimatization. Long-term exposure...Background & objectives Living at high altitudes causes chronic exposure to hypoxia, which triggers various physiological and autonomic adaptations, and many residents show successful acclimatization. Long-term exposure leads to time-dependent alterations in autonomic nervous system function, even in healthy individuals. Heart rate (HR) variability has long been a valuable tool for assessing autonomic activity, yet only a few studies have examined its association with altitude in healthy populations. This study assessed the impact of altitude on cardiac autonomic activity through HR variability analysis in healthy Sikkimese natives. Methods A cross-sectional study was conducted among the Sikkimese population residing at high, intermediate and low altitudes of Sikkim. Two areas from each altitude category were selected. Based on the population of the selected areas, the sample size was distributed using probability proportional to size, sampling. Systematic random sampling was then used to select participants. For each participant, a 5-min ECG was recorded using lead II of a Power Lab system. HR variability analysis was performed to derive time and frequency-domain indices from spectral analysis of successive R-R intervals. Results We found significantly higher values of time domain HR variability indices including standard deviation of all normal-to-normal intervals (SDNN) and root mean square of successive differences between normal heartbeats (RMSSD) among the people residing at higher altitudes in Sikkim (P<0.001). Interpretation & conclusions Residents living at high altitudes exhibit enhanced parasympathetic cardiac activity compared to those residing at lower and intermediate elevations, reflecting a possible adaptive response to chronic hypobaric hypoxia.
Indian J Med Res
· 2025 Dec · PMID 41648971
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Background & objectives Telemedicine is a promising tool for the delivery of remote healthcare services in the country. This study was conducted to assess the promoters and barriers for healthcare workers (HCWs) to adopt...Background & objectives Telemedicine is a promising tool for the delivery of remote healthcare services in the country. This study was conducted to assess the promoters and barriers for healthcare workers (HCWs) to adopt telemedicine using hub and spoke model for health care delivery in selected rural areas. Methods A cross-sectional study was undertaken using an online questionnaire, at the Primary Healthcare Centre (PHC) at Kaiwara, district Chikkaballapur and Avathi PHC- Devanahalli Taluk, Karnataka, which are adopted by MS Ramaiah Medical College Hospital, Bengaluru as part of their hub-spoke model of telemedicine. The study was conducted among Health Care Workers (HCWs)- consultants, postgraduate residents, interns, nurses who were posted at these facilities during the study period. Results There were 86 HCWs approached and 78 participated in the study. 73 (94%) respondents considered themselves to be having knowledge for basic computer use. Total 52 (67%) participants agreed that telemedicine eased connections with specialists at the hub and majority of patients appreciated telemedicine services. Out of the total 52 respondents, 64 per cent respondents agreed that telemedicine greatly reduced travel costs and helped cover a larger patient population, making referrals and prescriptions efficient. However, 16 (20%) respondents were nervous about using telemedicine services, 46 (59%) respondents felt that telemedicine could breach patient confidentiality and 36 (46%) of respondents felt that there could be loss of jobs to telemedicine. Interpretation & conclusions The findings of this study indicates that telemedicine model is feasible and has good acceptance among the health care workers for the delivery of health care in the selected rural settings. Most respondents were positive that using telemedicine would make specialised healthcare more accessible in rural settings and improve digital health record management.
Josten K, Rose Dhar R, Reshmi B
… +2 more, Natti Krishna V, Vennila J
Indian J Med Res
· 2025 Dec · PMID 41648970
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Background & objectives The aim of this scoping review is to systematically map the existing research on human papillomavirus (HPV) vaccination uptake among adolescent girls in India, with a focus on (i) identifying the...Background & objectives The aim of this scoping review is to systematically map the existing research on human papillomavirus (HPV) vaccination uptake among adolescent girls in India, with a focus on (i) identifying the current trends, and (ii) examining the challenges and facilitators of vaccine uptake. Methods The review adheres to the scoping review framework developed by Arksey and O'Malley. A thorough search of peer-reviewed literature was carried out utilizing databases such as PubMed, Scopus, and Web of Science. Studies published between 2008 and 2025 were assessed for relevance. The socio-ecological model was used to chart and synthesize data, categorizing barriers and enablers at the individual, interpersonal, community, institutional, and policy levels. Results A total of 37 studies were included. Lack of awareness, sociocultural stigma, economic constraints, and insufficient assistance from the health system were highlighted as some of the main barriers. Government awareness initiatives, healthcare provider recommendations, and school-based interventions were found to facilitate HPV vaccination. Interpretation & conclusions Improving HPV vaccine uptake in India requires addressing multi-level barriers with integrated public health initiatives and policy interventions.
Kharkongor R, Garod M, Jamir T
… +1 more, Albert S
Indian J Med Res
· 2025 Dec · PMID 41648969
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Background & objectives Maternal mortality remains a major global health issue, with India, particularly Meghalaya, contributing significantly to the burden. The three delays: decision-making, reaching a healthcare facil...Background & objectives Maternal mortality remains a major global health issue, with India, particularly Meghalaya, contributing significantly to the burden. The three delays: decision-making, reaching a healthcare facility, and receiving care are key factors contributing to maternal deaths. Birth preparedness and complication readiness (BPCR) interventions aim to address these delays by preparing women for childbirth and its complications. This study evaluated the BPCR index and the quality of antenatal care (ANC) in Meghalaya, considering the perspectives of both pregnant women and healthcare providers. Methods A mixed-methods design was employed in different blocks of East Khasi Hills District, Meghalaya. A quantitative design was used to assess the BPCR index among 200 pregnant women. Direct observations of a subset of over 10 per cent of the ANC checkups were done to assess their quality. Additionally, in-depth interviews with 14 pregnant women and eight healthcare providers explored factors influencing BPCR and the quality of ANC. Results The BPCR index from this study was 43.4 per cent. Only 5 per cent of pregnant women could identify at least one danger sign of pregnancy. Direct observations revealed that the quality of ANC concerning BPCR was poor, with none of the ANC check-ups incorporating BPCR counselling. In-depth interviews also revealed that none of the healthcare providers were aware of BPCR counselling. Interpretation & conclusion The study revealed a critical lack of awareness about danger signs, contributing to the low birth preparedness and complication readiness. The absence of related counselling during ANC visits highlights a significant gap in maternal care and preparedness in the region.
Indian J Med Res
· 2025 Dec · PMID 41648967
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Background & objectives Carbapenem-resistant Enterobacterales (CREs) have emerged as a major global public health threat, leading to increasing morbidity, mortality, and healthcare costs. This study aimed to characterise...Background & objectives Carbapenem-resistant Enterobacterales (CREs) have emerged as a major global public health threat, leading to increasing morbidity, mortality, and healthcare costs. This study aimed to characterise the molecular profile of CRE isolates and identify clinical and epidemiological risk factors associated with the acquisition of carbapenemase-producing Enterobacterales (CPE). Methods This cross-sectional study was conducted from October 2023 to July 2024. Clinical isolates from hospitalized patients were identified and speciated using standard microbiological procedures and confirmed by the VITEK-2 compact. Confirmed CRE isolates were subjected to multiplex PCR for carbapenemase gene detection. Statistical analysis included bivariate and multivariate logistic regression to determine independent predictors of CPE acquisition. Results Among 104 Enterobacterales isolates, 58 (55.8%) wereCarbapenemase producing (CP)-CRE, and 46 (44.2%) were non-CP-CRE. K. pneumoniae (40/58, 69.0%) and E. coli (13/58, 22.4%) were the predominant CPE species. Molecular analysis revealed that 34 (58.6%) of CPE isolates harboured only blaNDM, 4 (6.9%) carried blaOXA-48, and 20 (34.5%) exhibited coproduction of multiple carbapenemases. Significant risk factors for CPE acquisition included prolonged hospital stay [≥5 days; odds ratio (OR)=103.81, P=0.009], presence of surgical site infections (OR=76.78, P=0.047), prior carbapenem use (OR=48.61, P=0.001), and invasive procedures or indwelling devices (OR=34.37, P=0.014). CP-CRE isolates exhibited high resistance (70-90%) to fluoroquinolones, aztreonam, aminoglycosides, and tetracyclines, moderate resistance to tigecycline, and the lowest to colistin (2/58, 3.5%). Interpretation & conclusions This study revealed a high prevalence of CP-CRE, predominantly blaNDM-producing K. pneumoniae. CP-CRE infections were associated with multidrug resistance, increased mortality, and risk factors like prolonged hospitalisation, surgical procedures, and previous carbapenem exposure.
Meena B, Nath S, Narasimha VL
… +3 more, Biswas B, Rai P, Kumari S
Indian J Med Res
· 2025 Dec · PMID 41648964
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Background & objectives Depression and anxiety are known sequelae in women who undergo hysterectomy. This study aims to assess and screen the prevalence of depression, anxiety, and quality of life (QoL) in women who unde...Background & objectives Depression and anxiety are known sequelae in women who undergo hysterectomy. This study aims to assess and screen the prevalence of depression, anxiety, and quality of life (QoL) in women who underwent hysterectomy for benign gynaecological conditions and compare it across different age groups (15-29, 30-39, and 40-49 yr). Methods This hospital-based cross-sectional study was conducted on 125 women who underwent hysterectomy in their reproductive age. Depression, anxiety, and QoL were assessed and screened using structured tools and analysed using JAMOVI software. Results Moderate to severe depression and anxiety were present in 38 (30.4 per cent), and 35 (28 per cent) women, respectively. Comorbidities were significantly associated with higher anxiety prevalence (P=0.035), but not with depression. Urban residents and those above the poverty line had better QoL scores. Depression and anxiety showed strong positive correlations with each other (r=0.949, P<0.001). They also showed significant negative correlations with poorer QoL, particularly in physical, and psychological domains and the total QoL. The different age groups (15-29, 30-39, 40-49 yr) showed no significant differences in the prevalence of both depression and anxiety as well as with the total and domain-wise QoL scores. Interpretation & conclusions We found no significant difference in QoL outcomes based on the age at which the surgery was performed but identified a strong link between higher depression and anxiety scores and poorer QoL.
Mathew G, Thayil LM, Shenoy M P
… +8 more, Sasidharan M, Kumar B P, Selvam P, Pingle S, Sampathraj R, Kumar S N, Beerappa R, Bagepally BS
Indian J Med Res
· 2025 Dec · PMID 41648963
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Background & objectives Aflatoxins pose serious health risks to humans and livestock, with ingestion being the most common route of exposure. In occupational settings, workers can also be exposed through inhalation of or...Background & objectives Aflatoxins pose serious health risks to humans and livestock, with ingestion being the most common route of exposure. In occupational settings, workers can also be exposed through inhalation of organic dust and dermal contact. The review aimed to provide an overview of aflatoxin exposure and health effects among workers. Methods Observational studies investigating occupational exposure to aflatoxins and their health effects were systematically screened in PubMed, Embase, and Scopus till June 2024. Studies meeting inclusion criteria, were assessed for their methodological quality using the Newcastle-Ottawa Scale. Results Overall, 12,610 studies were screened of which 17 studies were included in the final review. Food-grain workers, farmers, millers, bakers, grain handlers, oil pressors, and feed mixers, are at a higher risk of occupational exposure to aflatoxins. Assessment of exposure was done by analysing biological fluids (Blood, Urine, and Bronchoalveolar lavage) and samples from the working environment (settled dust, airborne dust, and personal sampling) using enzyme-Linked Immunoassay and High-Performance Liquid Chromatography. Studies have shown an elevation of hepatic and renal enzymes, an increased risk for hepatobiliary cancer, and an increased risk for tumour markers, oxidative markers, and reduced antioxidant levels. One recent study has also found an association between aflatoxin exposure and weight for age and height among children of workers. Interpretation & conclusions Occupational exposure to aflatoxins is associated with hepatic and renal toxicity and increased carcinogenic risk. These findings highlight the need of large scale dose- response studies, workplace monitoring and regular health surveillance among workers.
Indian J Med Res
· 2025 Dec · PMID 41648961
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Background & objectives Little data exist on population-based incidence of diabetes related complications in developing countries. We assessed sex-specific incidence of complications among Asian Indians with type 2 diabe...Background & objectives Little data exist on population-based incidence of diabetes related complications in developing countries. We assessed sex-specific incidence of complications among Asian Indians with type 2 diabetes (T2D) based on follow up assessments from a community-based cohort. Methods We evaluated incident complications among individuals with T2D identified in the Chennai urban rural epidemiological study (CURES) conducted in 2001-03, who were complication-free at baseline and re-assessed once during a follow up survey in 2012-14. Diabetic retinopathy was assessed using retinal photography, diabetic peripheral neuropathy using biothesiometry, diabetic kidney disease using urinary albumin excretion and estimated glomerular filtration rate (eGFR), peripheral artery disease by ankle-brachial index, and coronary artery disease using medical history of coronary artery disease and/or Minnesota coding of ECGs. Cumulative incidence reflected the proportion developing each complication during a specified period of time, and relative risk analysis identified associated risk factors. Results Among 1,053 participants [men= 453(43%)], assessed in a cross-sectional manner about a decade later, the cumulative incidence rates differed by sex: women showed higher rates of diabetes kidney disease (36.1 vs. 31.4%) and peripheral artery disease (35.4 vs. 23.9%) whereas men had higher rates of diabetic retinopathy (37.0 vs. 27.3%) and coronary artery disease (36.2 vs. 34.5%). The incidence of peripheral neuropathy was comparable between men (63%) and women (62.7%). After adjusting for confounding variables compared to men, women had higher risk for peripheral artery disease [range (RR:1.62, 95% confidence interval (CI):1.20-2.17] but a lower risk for diabetic retinopathy (RR:0.75,95% CI:0.59-0.97) and coronary artery disease (RR:0.60, 95% CI:0.49-0.75). Interpretation & conclusions Women have a higher risk of peripheral arterial disease and lower risk of diabetic retinopathy and coronary artery disease, while there were no sex differences for developing kidney disease and peripheral neuropathy.
Harshini D, Lakshminarayanan S, Wyawahare M
… +2 more, Vairappan B, Govindarajalou R
Indian J Med Res
· 2025 Dec · PMID 41648960
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Background & objectives Non-alcoholic fatty liver disease (NAFLD) is an emerging public health issue and affects 20-30 per cent of the general population globally and 9-53 per cent in India. We aimed to estimate the prev...Background & objectives Non-alcoholic fatty liver disease (NAFLD) is an emerging public health issue and affects 20-30 per cent of the general population globally and 9-53 per cent in India. We aimed to estimate the prevalence of NAFLD and associated risk factors among adults at high risk for NAFLD (≥30 yr) in Puducherry. Methods A community-based cross-sectional study was conducted among 350 adults at high risk for NAFLD (simple random sampling) in a rural area of Puducherry. Clinical assessment, and blood investigations (liver function tests, lipid profile) were performed. NAFLD was diagnosed using the fatty liver index and risk stratification for advanced liver fibrosis by using the FIB-4 score. The indeterminate/high-risk participants underwent vibration controlled transient elastography (VCTE). Prevalence of NAFLD [proportions with 95 per cent confidence interval (CI)] and risk factors associated with NAFLD (multivariable regression) were reported. Results Prevalence of NAFLD among adults at high risk was 22.8 per cent (95% CI:18.7% -27.5%); and higher among men (35.2%), those with diabetes mellitus (33.3%) and obesity (40.2%). Male sex, diabetes mellitus and elevated alanine transferase were significantly associated with high risk of NAFLD. Interpretation & conclusions One in four screened adults had NAFLD, increasing to one in two among those with comorbidities.
Mohanvel SK, Radhakrishnan R, Balraj P
… +29 more, Singh N, Danisetty S, Vats H, Chaudhury A, Choudhary H, Rajendran P, Jayaprakasam M, Devi Vadivel S, Preysingh B, Thariyasha S, Anjaiyan S, Chittiboyina S, Dhawan S, Lichade S, Kumari R, Ratnam R, Chandrakar S, Nasir Khan M, Srivastava AK, Roy I, Kingsberry R, Sridharan A, Ramachandran R, Kumar N, Singh M, Rao R, Singh UB, Padmapriyadarsini C, Shanmugam SK
Indian J Med Res
· 2025 Dec · PMID 41648958
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Background & objectives Central TB division facilitated development of a line probe assay (LPA) artificial intelligence (AI) tool. The tool was developed, trained, and validated for performance by collecting more than 18...Background & objectives Central TB division facilitated development of a line probe assay (LPA) artificial intelligence (AI) tool. The tool was developed, trained, and validated for performance by collecting more than 18,000 LPA strips across culture and drug susceptibility Testing (C&DST) laboratories. The Indian Council of Medical Research (ICMR)-National Institute for Research in Tuberculosis (NIRT) evaluated the LPAAI tool independently. The objective was to establish and verify an AI-driven system for automatically interpreting LPA strips, which are employed in tuberculosis drug resistance screening, to improve accuracy, consistency, and scalability across diverse laboratory settings. Methods The AI system integrates faster regions convolutional neural network (FR-CNN) for strip detection, detection transformer (DETR) for band localisation, and a hierarchical neural network (HNN) for classification of bands, loci, and drug labels. Independent validation was conducted by ICMR-NIRT using 2810 first-line (FL)-LPA and 241 reflex second-line (SL-LPA) across ten intermediate reference laboratories (IRLs). Results AI comparative models demonstrated an accuracy range of 92-100 per cent, with sensitivity between 80-100 per cent and specificity from 86-100 per cent for the tub, rpoB, katG, InhA, gyrA/gyrB,rrs, and eisgenes. The overall F1 score varies from 0.81 to 1.00, indicating perfect precision and recall. Interpretation & conclusions This AI system offers a novel, modular architecture capable of expert-level interpretation of LPA strips. The AI tool performs at par with expert readers and offers a reliable, scalable solution for LPA interpretation.AI tool adoption can reduce interpretation time, enhance result uniformity, and improve treatment delivery across India's TB programme, supporting national goals for TB elimination.
Kottarathil MS, D'Cruze L, Dhanabal D
… +1 more, K H
Indian J Med Res
· 2025 Dec · PMID 41648957
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Background & objectives Immune checkpoint inhibitor (ICI) therapy is an emerging therapeutic strategy for several malignancies, including gastric cancer, that hinges on immune checkpoint expression by the tumour infiltra...Background & objectives Immune checkpoint inhibitor (ICI) therapy is an emerging therapeutic strategy for several malignancies, including gastric cancer, that hinges on immune checkpoint expression by the tumour infiltrating lymphocytes (TILs). Cytotoxic T lymphocyte associated antigen-4 (CTLA-4) is a well-known inhibitory T-cell co-receptor that functions as an immune checkpoint. CTLA-4 has also been found to be expressed by tumour cells making it a potential area of research for targeted therapy. We attempted to explore tumour cell CTLA-4 expression, and its correlation with programmed cell death receptor-1 (PD-1) and CD8 expression by the TILs and their correlations with histopathological parameters in gastric carcinoma. Methods A retrospective study carried out on archived paraffin blocks from 50 cases of gastric adenocarcinoma. Immunohistochemical (IHC) staining was performed and interpreted by grading the marker expression on the basis of its intensity and proportion of tumour cells stained. The relationship between tumour cell CTLA-4 expression, PD-1, CD8 expression in TILs and the histopathological features of gastric carcinoma was evaluated statistically. Results Most patients (n=37, 74%) were males and aged >60 yr (n=22, 44%). A statistically significant association was noted between high CTLA-4 expression in tumour cells and higher tumour stage (P=0.017). All cases with high CTLA-4 expression in tumour cells demonstrated nodal metastasis. CTLA-4 did not show a statistically meaningful association with other histopathological parameters. Positive PD-1 expression in TILs did not show a significant association with tumour aggression in terms of tumour grade, histologic type, nodal metastasis, lymphovascular and perineural invasion. Most TILs were found to be CD8+ T-cells. Interpretation & conclusions A higher CTLA-4 expression in tumour cells is linked to advanced tumour stage in our study. These findings can trigger research to elucidate a likely role of these markers as independent prognostic and therapeutic factors in determining overall outcome in gastric carcinoma.
Patel V, Rao R, Bhad R
… +3 more, Mishra AK, Quraishi R, Gupta Y
Indian J Med Res
· 2025 Dec · PMID 41648956
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Background & objectives Though sexual dysfunction are common in individuals with opioid dependence, the relative contribution of hormonal and psychological determinants remains unclear. Studies assessing sexual functioni...Background & objectives Though sexual dysfunction are common in individuals with opioid dependence, the relative contribution of hormonal and psychological determinants remains unclear. Studies assessing sexual functioning and sex hormone levels together in this population remain limited. This study aimed to evaluate self-reported sexual dysfunction and sex hormone alterations, and their association with demographic, psychosocial, and hormonal factors in men with opioid dependence, primarily using heroin. Methods In this cross-sectional study, 143 sexually active males (aged 18-50 yr) with opioid dependence were recruited. Sexual functioning was assessed using the international index of erectile function (IIEF-15). Hormonal assays included total testosterone, prolactin (PRL), luteinising hormone (LH), follicle-stimulating hormone (FSH), gonadotropin-releasing hormone (GnRH), sex hormone-binding globulin (SHBG), and dehydroepiandrosterone sulphate (DHEA-S). Descriptive statistics, Spearman's rank correlation with FDR (false discovery rate) correction, and hierarchical multiple regression with bootstrapped confidence intervals (1000 samples) were conducted. A sensitivity analysis restricted to married participants (n=78) allowed inclusion of intimate partner violence as predictor. Results The median age of participants (n=143) was 26 yr [Interquartile range (IQR):24-30], with 93 per cent identifying as heterosexual. Erectile dysfunction (93.7%, n=134), orgasmic dysfunction (95.1%, n=136), low sexual desire (94.4%, n=135), dissatisfaction with sexual intercourse (99.3%, n=142), and premature ejaculation (72%, n=103) were highly prevalent. Hormonal analysis showed low testosterone in 7.7 per cent (n=11), high PRL in 8.4 per cent (n=12), and elevated GnRH in 57.3 per cent (n=82) of participants. Median hormone levels were: Testosterone 20.5 (15.0-27.3) nmol/L, PRL 5.8 (3.5-11.2) ng/mL, and GnRH 160.3 (132.2-178.1) pg/mL. No significant correlations were observed between hormone levels and sexual function. In regression analysis, demographic and psychosocial variables predicted sexual functioning, while hormonal measures did not contribute independently. The final model explained 17 per cent of variance (adjusted R2 = 0.17). Interpretation & conclusion Sexual dysfunction in men with opioid dependence primarily using heroin was driven more by psychosocial and demographic determinants than by hormonal changes. Endocrine alterations were not sufficient to explain the high burden of dysfunction. Addressing sexual health in opioid dependence requires a multifactorial approach, with attention to social and psychological contributors alongside biological assessment.
Shrivastava M, Bathri R, Shafqat N
… +2 more, Das S, Agrawal A
Indian J Med Res
· 2025 Nov · PMID 41520274
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Background & objectives Sickle cell anaemia (SCA) is a serious inherited blood disorder caused by mutations in the β-globin gene, leading to abnormal haemoglobin (HbS). Understanding the genetic diversity of SCA is impor...Background & objectives Sickle cell anaemia (SCA) is a serious inherited blood disorder caused by mutations in the β-globin gene, leading to abnormal haemoglobin (HbS). Understanding the genetic diversity of SCA is important for improving diagnosis, treatment, and public health planning. Our aim was to systematically review and summarise the genetic variations associated with SCA in various populations, and to explore how these differences affect clinical outcomes and inform public health responses. Methods A systematic search was conducted across databases, including PubMed, Scopus, Cochrane, and Science Direct, for studies published between 1990 and 2025. A total of 62 studies were included, covering populations with a high prevalence of haemoglobinopathies. Results Significant genetic heterogeneity was identified. Common coinherited conditions included α- and β-thalassaemia, particularly in Saudi Arabia, Iran, and Sub-Saharan Africa, influencing haemoglobin levels and disease severity. Specific βS haplotypes (e.g. Benin, Bantu, Senegal) were regionally dominant, with some (e.g. Senegal) linked to higher foetal haemoglobin levels and milder symptoms. Genetic modifiers such as BCL11A and MYH9 variants were also found to affect disease expression. Public health screening programmes in countries like the UAE and India have achieved high coverage, but diagnostic and treatment challenges persist due to ongoing genetic and environmental variation. The Quantitative findings include regional dominance of βS haplotypes: Benin (29%), Bantu (3%), Senegal (1%), with the Senegal haplotype linked to higher foetal haemoglobin (HbF) levels (average 14.6%) and the Arab Indian haplotype (6.7%). Co-inheritance of β-thalassaemia was notably common in Saudi Arabia, Iran, and Sub-Saharan Africa. Interpretations & conclusions Tailored, genomically informed public health strategies are needed to address the diverse genetic landscape of SCA. Clinicians should incorporate genetic profiling and culturally appropriate counselling to improve care in affected populations. Variability in study design, sample size, and genetic reporting limited the ability to perform direct comparisons across regions.
Muniyandi M, Nagarajan K, Chelvanayagam K
… +3 more, Rajsekar K, Tyagi K, Padmapriyadarsini C
Indian J Med Res
· 2025 Nov · PMID 41520273
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Background & objectives Current options for treating tuberculosis (TB) that is resistant to rifampicin (RR-TB) are limited and available regimens are often lengthy and poorly tolerated. However, following recent evidence...Background & objectives Current options for treating tuberculosis (TB) that is resistant to rifampicin (RR-TB) are limited and available regimens are often lengthy and poorly tolerated. However, following recent evidence from the TB PRACTECAL trial, countries are considering programmatic adoption of six-month, all-oral treatment regimen such as bedaquiline, pretomanid, linezolid (BPaL) and BPaL with moxifloxacin (BPaLM). We conducted an economic evaluation to assess whether the introduction of BPaL/BPaLM regimen under National Tuberculosis Elimination Programme (NTEP) for the treatment of multi-drug resistant (MDR)/RR-TB is a cost-effective strategy. The idea was to estimate the incremental cost incurred from BPaL/BPaLM regimen in comparison with the current mix of standard of care (SoC) regimen. Methods We used an economic model comprising a Markov analysis. The study estimated the incremental costs, life years gained and quality adjusted life years (QALYs) gained by the introduction of BPaL/BPaLM regimen for MDR/RR-TB patients. A scenario analysis for different proportions of shorter and longer SoC regimen compared with BPaL/BPaLM was also done. Cost threshold analysis was done to assess the ideal cost at which the drug BPaL/BPaLM turns into cost-saving. Budget impact analysis was conducted to assess the financial implications of adopting BPaL/BPaLM compared to mix SoC, supporting informed decision-making alongside cost-effectiveness analysis for one year. Results The base case analysis showed the total discounted costs by health system perspective for the BPaL, BPaLM and the current mixed SoC were INR 2515, INR 2644 and INR 2630 million, respectively. The ICER for BPaL was INR -379 which indicates that we have to spend INR 379 less per patient for BPaL than the mixed SoC to gain one QALY. The ICER for BPaLM was INR 37 which indicates that we have to spend INR 37 additionally per patient for BPaLM than the mixed SoC to gain one QALY. Interpretation & conclusions Our findings indicate that BPaL based regimens are likely to be cost-saving and more effective than the current mixed SoC in a range of settings. Countries should consider programmatic uptake of BPaL based regimens to treat MDR/RR-TB.