St. John's National Academy of Health Sciences
Recent publications
To determine the duration of moderate to vigorous physical activity (MVPA), perceived barriers to physicaly activity and examine its association with cardiometabolic risk factors in Indian children. Sociodemographic data, physical activity patterns and the barriers to physical activity were collected using questionnaires, from urban children aged 6–19 years residing in Bengaluru, Karnataka. Anthropometry, body composition, blood pressure, glycated hemoglobin, and lipid profile were measured. The mean (SD) age of a total of 4004 enrolled children was 13.1 (2.5) years; 17.8% were overweight/obese. The median (IQR) duration of MVPA was 7.7 (0.0, 44.1) minutes/day, with 81% (n = 3252) not meeting the MVPA recommendation, particularly girls (88.6%; n = 1980/2234). In adjusted analysis, children who did not engage in MVPA had elevated systolic blood pressure (mm Hg) [1.07 (95% CI 0.40, 1.35)] and diastolic blood pressure (mm Hg) [1.09 (95% CI 0.40, 1.77)]. Significant barriers to engaging in physical activity included time constraints due to academic work and lack of space/facilities. Indian children do not meet the required daily MVPA recommendations; academic demands and limited access to space/facilities were significant barriers to physical activity. Children who did not engage in any form of MVPA had significantly higher blood pressure.
Management of cases of anti-N-methyl-D-aspartate (NMDA) antibody-mediated encephalitis is very challenging to anaesthesiologists as this receptor is the target of many anaesthetics. We report a woman diagnosed with anti-NMDA antibody-mediated encephalitis posted for laparotomy. She presented with generalised tonic-clonic seizures. Testing revealed anti-NMDA antibodies and anti-SOX antibodies. Ultrasonography of the abdomen showed a right adnexal cystic lesion; hence, the patient was taken up for right ovarian cystectomy after obtaining high-risk consent. A combination of total intravenous anaesthesia with endotracheal intubation under bispectral index monitoring and bilateral transversus abdominis plane block for postoperative analgesia was administered. Postoperatively, there was no excessive drowsiness or hypoventilation. Prioritising careful monitoring and tailored anaesthesia techniques to minimise the risk of triggering neurological exacerbations while ensuring optimum surgical conditions are met is of paramount importance. Meticulous planning and careful use of resources enabled the administration of safe anaesthesia.
Real time-polymerase chain reaction (RT-PCR) is used routinely in clinical practice as a cost-effective method for molecular diagnostics. Research in pediatric B-cell Acute Lymphoblastic Leukemia (ped B-ALL) suggests that apart from cytogenetics and clinical features, there is a need to include Copy number variation (CNV) in select genes at diagnosis, for upfront stratification of patients. Using ped B-ALL as a model, we have developed a RT-PCR-based iterative probability scoring method for reporting CNVs, and relative gene-expression changes. Our work highlights that once genes of interest and hotspots of CNVs are identified in discovery phase, our proposed method can be used as a cost-effective and user-friendly diagnostic tool for the identification of changes at genomic or transcriptomic level. It has the potential to be incorporated in routine diagnostics in resource constrained settings and be tailored for different diseases as per need.
Vulnerable populations, such as the elderly, children, displaced people, and refugees, often encounter challenges in accessing healthcare. In this study, we used data from the third iteration of the International Society of Nephrology Global Kidney Health Atlas (ISN-GKHA) to describe kidney care access and delivery to vulnerable populations across countries and regions. Using data from an international survey of clinicians, policymakers, and patient advocates, we assessed the funding and coverage of vulnerable populations on all aspects of kidney replacement therapies (KRT). Overall, 167 countries or jurisdictions participated in the survey, representing 97.4% of the world’s population. Children had less access than adults to KRT: hemodialysis (HD) in 74% of countries, peritoneal dialysis (PD) in 53% of countries, and kidney transplantation (KT) in 80% of countries. Available nephrologist workforce for pediatric kidney care was much lower than for adults (0.69 per million population [pmp] vs 10.08 pmp). Refugees or displaced people with kidney failure did not have access to HD, PD, or KT in 21%, 33%, and 37% of the participating countries, respectively. Low-income countries (LICs) were less likely to provide KRT access to refugees compared to high-income countries (HICs): HD: 13% vs 22%; PD: 19% vs 61%; KT: 30% vs 44%. Testing for kidney disease was routinely offered to elderly people in only 61% of countries: LICs (45%), lower-middle-income countries (56%), upper-middle-income countries (54%), and HICs (75%). Equitable access to kidney care for vulnerable people, particularly for children and displaced people, remains an area of unmet need. Strategies are needed to address this issue.
Thrombocytopenia is a common manifestation of systemic lupus erythematosus (SLE) and is often associated with other haematological manifestations such as leukopenia and haemolytic anaemia. It is a poor prognostic marker and is an independent marker of mortality and morbidity. Several autoantibodies, such as anti-glycoprotein IIb/IIIa (GpIIb/IIIa), anti-GpIa/IIa, anti-GpIb/IX, anti-thrombopoietin receptor (TPO-R) and antiphospholipid antibodies, play a role in the pathogenesis of thrombocytopenia in SLE. Glucocorticoids are considered the first line in the management. However, when prescribed alone, it results in relapses and poor outcomes; therefore, guidelines recommend concomitant immunosuppressants along with glucocorticoids. The choice of concomitant immunosuppression may depend on other SLE-related manifestations. Rituximab and immunoglobulin have been used in relapsed and refractory thrombocytopenia. TPO-R agonists such as eltrombopag and romiplostim approved for chronic immune thrombocytopenia are found to be efficacious in SLE thrombocytopenia. However, TPO-R agonists are associated with a risk of thrombosis and rebound thrombocytopenia after stopping them. Therefore, an individualised approach is required when treating thrombocytopenia in SLE.
Pulmonary artery aneurysmal rupture is a rare cause of massive hemoptysis. When the suspected origin of bleeding is the pulmonary artery, comprehensive evaluation is necessary to determine aetiology and guide appropriate management. Behçet's disease and Hughes–Stovin Syndrome (HSS) are important differentials to consider after infections and malignancy have been ruled out. Pulmonary artery aneurysms with aneurysmal wall enhancement and ‘in‐situ’ thrombus should prompt the suspicion of HSS. Early diagnosis and treatment with immunosuppressants and endovascular interventions in selected patients may improve the prognosis and prevent episodes of fatal hemoptysis.
Purpose The Language ENvironment Analysis (LENA) technology uses automated speech processing (ASP) algorithms to estimate counts such as total adult words and child vocalizations, which helps understand children's early language environment. This ASP has been validated in North American English and other languages in predominantly monolingual contexts but not in a multilingual context like India. Thus, the current study aims to validate the classification accuracy of the LENA algorithm specifically focusing on speaker recognition of adult segments (AdS) and child segments (ChS) in a sample of bi/multilingual families from India. Method Thirty neurotypical children between 6 and 24 months (M = 12.89, SD = 4.95) were recruited. Participants were growing up in bi/multilingual environment hearing a combination of Kannada, Tamil, Malayalam, Telugu, Hindi, and/or English. Daylong audio recordings were collected using LENA and processed using the ASP to automatically detect segments across speaker categories. Two human annotators manually annotated ~900 min (37,431 segments across speaker categories). Performance accuracy (recall and precision) was calculated for AdS and ChS. Results The recall and precision for AdS were 0.62 (95% confidence interval [CI] [0.61, 0.63]) and 0.83 (95% CI [0.8, 0.83]), respectively. This indicated that 62% of the segments identified as AdS by the human annotator were also identified as AdS by the LENA ASP algorithm and 83% of the segments labeled by the LENA ASP as AdS were also labeled by the human annotator as AdS. Similarly, the recall and precision for ChS were 0.65 (95% CI [0.64, 0.66]) and 0.55 (95% CI [0.54, 0.56]), respectively. Conclusions This study documents the performance of the ASP in correctly classifying speakers as adult or child in a sample of families from India, indicating recall and precision that is relatively low. This study lays the groundwork for future investigations aiming to refine the algorithm models, potentially facilitating more accurate performance in bi/multilingual societies like India. Supplemental Material https://doi.org/10.23641/asha.27910710
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis. Initial assessments, including elevated creatine phosphokinase (CPK) levels and electromyography (EMG) suggestive of myopathy, prompted further investigation. Genomic analysis using targeted gene sequencing using the ExomeDepth method subsequently confirmed the rare autosomal variant of EDMD Type 2 within the OMIM (Online Mendelian Inheritance in Man) phenotype. Given the heterogeneity of EDMD, cardiac evaluation becomes paramount in understanding its multifaceted nature. In this case, the patient underwent surgical correction, specifically, Achilles tendon release, and subsequent post-surgical rehabilitation. Notably, there was a marked improvement in ambulation, underscoring the significance of early release of contractures in enhancing overall functional outcomes. This comprehensive case study not only contributes insights into the clinical, genetic, and surgical aspects of EDMD Type 2 but also highlights the pivotal role of timely interventions in optimizing patient outcomes.
Background/Objectives: The bioavailability of crystalline vitamin B12 (B12) through active absorption is reported to have a maximum capacity of 1.5–2.5 µg per dose. A small passive bioavailability has also been suggested at high doses. The present study aimed to determine the dose-dependency of active B12 absorption and to quantify its passive absorption at higher doses. Methods: The dose-dependency of crystalline B12 bioavailability was determined in nine healthy adults, using oral [¹³C]-cyanocobalamin, in a cross-over design at doses of 2.5, 5, and 10 µg. The dose order was randomised, with a washout of one month. Literature data from was added to the present study data in a meta-analysis of the relation between B12 bioavailability and dose, to evaluate its pattern at different doses. Results: Bioavailability, as a function of dose, was significantly different between 2.5, 5, and 10 µg doses of [¹³C]-cyanocobalamin at 50.9 ± 32.5%, 26.7 ± 22.3%, 15.4 ± 13.6%, respectively, (p < 0.01), while the absolute bioavailability trended upward, at 1.16 ± 0.74 µg, 1.22 ± 1.02 µg, and 1.39 ± 1.23 µg (p = 0.46). The meta-analysis showed two distinct phases of bioavailability. Up to a dose of 2.6 µg, there was a significant steep positive correlation, with a slope (bioavailability) of 43%/µg suggesting an active process with a maximum of 1.2 µg. At higher doses, the slope was 1%/µg, not significantly different from zero, possibly a passive process. Conclusions: The active bioavailability of crystalline B12 is not dose-dependent, saturating at ~1.2 µg.
Background Temporary pacemaker lead implantation is a common low risk procedure, but can occasionally get complicated by infections, arrhythmias, thromboembolic events, and perforation of the vessel or the heart. However, intracardiac knotting of temporary pacemaker lead has been rarely reported. This could lead to vascular or valvular injury, pneumothorax, symptomatic loss of pacing or hemodynamic compromise, and difficult lead removal. Case summary We are reporting a case of twice knotted temporary pacemaker lead, which to our knowledge has not been reported before. The two knots in the transjugularly inserted temporary pacemaker lead, via a 6F venous sheath made it difficult to retrieve it. Discussion We decided to snare the knotted TPI into the inferior vena cava, and then retrieve it via a large size femoral sheath, thus avoiding the need for a venotomy or any surgical intervention.
Background: There is increasing interest in the use of home-based monitoring in people with chronic lung diseases to improve access to care, support patient self-management, and facilitate the collection of information for clinical care and research. However, integration of home-based monitoring into clinical and research settings requires careful consideration of test performance and other attributes. There is no published guidance from professional respiratory societies to advance the science of home-based monitoring for chronic lung disease. Methods: An international multidisciplinary panel of 32 clinicians, researchers, patients, and caregivers developed a multidimensional framework for the evaluation of home-based monitoring in chronic lung disease developed through consensus using a modified Delphi survey. We also present an example of how the framework could be used to evaluate home-based monitoring using spirometry and pulse oximetry in adults with asthma, bronchiectasis/cystic fibrosis (CF), chronic obstructive pulmonary disease (COPD), and interstitial lung disease (ILD). Results: The PANACEA framework includes seven domains (test Performance, disease mANAgement, Cost, patient Experience, clinician Experience, researcher Experience, and Access) to assess the degree to which home-based monitoring assessments meet the conditions for clinical and research use in chronic lung disease. Knowledge gaps and recommendations for future research of home spirometry and pulse oximetry in asthma, bronchiectasis/CF, COPD, and ILD were identified. Conclusion: The development of the PANACEA framework allows standardized evaluation of home-based monitoring in chronic lung diseases to support clinical application and future research.
Background & objectives Interstitial lung diseases (ILD) cause progressive symptoms and decline in lung functions which impact health-related quality of life (HRQoL). Although HRQoL is gaining wider acceptance as an endpoint for disease perception, limited data is available regarding the same in Indians with ILD. Hence, this study was undertaken to assess HRQoL and its correlation with lung function parameters in individuals with ILD in a tertiary care setting in south India. Methods A hundred and fifty-nine consecutive patients with ILD were recruited between June 2022 to December 2023. HRQoL was assessed using the ILD specific K-BILD, generic EQ-5D-5L and an adapted version of the validated PESaM questionnaires. Correlation between various domains of the three questionnaires and lung function parameters was analyzed followed by linear regression analysis. Results The study population consisted predominantly of females (64.1%), with CTD-ILD being the most common ILD (40.8%). HRQoL impairment was noted, predominantly affecting the ‘breathlessness and activity’ domain and significant correlation was noted between K-BILD and EQ-5D-5L across domains. On regression analysis, FVC, 6-minute walk distance and desaturation were independent predictors of HRQoL. Type of ILD and disease duration did not have a significant association with HRQoL measures. Interpretation & conclusions ‘Breathlessness and activity’ domain of HRQoL was affected the most in participants with ILD. Forced vital capacity, six-minute walk distance and exercise induced desaturation were independent predictors of HRQoL among individuals with ILD.
Purpose of review The colon is an effective bioreactor with auxotrophic microbiota that can serve by hydrolyzing dietary and endogenous protein, as well as by synthesizing essential amino acids through nitrogen salvage. Due to assumed negligible amino acid absorption, this colonic contribution was thought to be minimal, but this may not be true. Recent findings Several studies that examined the colonic environment in health and disease, show the presence of proteases in the colonic lumen, which are of both host and microbial origin, along with indirect evidence of amino acid transporters in the colonic epithelium. There are also amino acid biosynthetic pathways in the microflora, and the contribution of colonic amino acid to host amino acid nutrition has been shown in wild animals. Yet, current direct and quantitative evidence on amino acid absorption in human colon is minimal. Summary Although amino acid absorption in colon is not very well established, current studies show that substantial amounts of amino acid could possibly be contributed to the host by the colon. There is a need for assessing this contribution quantitatively using direct isotopic methods under different nutritional conditions, dietary intakes, and clinical conditions.
Assessing the digestive and absorptive capacity of the gastro-intestinal tract (GIT) using minimally- or non-invasive methods, particularly in children, has been difficult owing to the complex physiology and variability in functional measurements. However, measuring GIT function is increasingly important with the emerging relevance of childhood environmental enteropathy (EE) as a mediating factor in linear growth faltering, severe acute malnutrition, poor oral vaccine uptake and impaired cognition. In EE, sub-optimal nutrient digestion and absorption (malabsorption) forms the critical link to the conditions mentioned above. The present narrative review discusses probable mechanisms that can cause malabsorption of macronutrients, along with mechanistic and experimental evidence, in children (if not, in adults) with EE. The strengths and limitations of the human experimental studies are examined in relation to a battery of existing and potential tests that are used to measure malabsorption. From the available studies conducted in children, lactose and fat malabsorption are more likely to occur in EE. Breath tests (non-invasive) measuring carbohydrate ( ¹³ C-starch/sucrose/lactose), fat ( ¹³ C-mixed triglyceride) and dipeptide (benzoyl-L-tyrosyl-L-1- ¹³ C-alanine) malabsorption with modifications to the existing protocols seem suitable for use in children with EE. Future research should focus on understanding the degree of macronutrient malabsorption using these tests, in different settings, and link them to functional outcomes (such as growth, muscle strength, cognition).
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809 members
Santu Ghosh
  • Department of Biostatistics
Snijesh V.P.
  • Division of Molecular Medicine
Srilakshmi M Adhyapak
  • Department of Cardiology
Uma Devaraj
  • Medical College
JOHNSON PRADEEP
  • Department of Psychiatry
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Bengaluru, India