South Indian Patients Research Articles

FP.21 Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation

Desminopathies (DES; OMIM: 125660) are highly variable presenting as cardiomyopathy, myofibrillar myopathy (MFM) or a combination of both. Dominant mutations are more common while a few severe cases of recessive myofibrillar myopathy were reported with complete loss of desmin. Here, we report three unsolved Limb girdle congenital myasthenic syndrome (LG-CMS) patients with a recurrent homozygous intronic DES mutation identified by systematic reanalysis through Solve-RD project. Three unrelated patients (M:F – 2:1) aged 16, 21 and 22 years presented with history of delayed motor milestones, childhood onset of progressive muscle involvement. Fatigable ptosis and limb weakness was reported in all three patients with gradually progressive speech and swallowing difficulty. Elevated serum creatine kinase was common finding and repetitive nerve stimulation showed decrement (>10%) in two patients. Clinical improvement of 25% with pyridostigmine and salbutamol was noted in one patient. Initial exome sequencing analysis did not reveal any significant variants in known CMS genes. On re-analysis, we identified a novel intronic homozygous substitution DES(NM_001927.4):c.1023+5G>A in all three patients. In-silico analysis predicted pathogenicity due to altered donor splice site. Muscle biopsy in one of the male patients showed mixed pattern with reduced sarcoplasmic Desmin staining along with Desmin positive aggregates. Neuromuscular junction involvement has been previously reported in severe desmin-null patients. The presence of a recessive CMS-MFM phenotype of moderate severity with desmin aggregates and absence of cardiac involvement in our patients expands the known spectrum of Desminopathies and reiterates the importance of early genetic diagnosis to identify treatable CMS phenotypes. Due to the presence of identical rare homozygous variant in three unrelated south Indian patients, we suspect a possibility of founder allele.

A portrait of COVID-19 pandemic among pediatric patients in South India

INTRODUCTION: In a report from Kerala, 7% of coronavirus disease (COVID)-positive patients were constituted by children less than 10 years old. This observational study gives a glimpse to the pattern of COVID-19 disease among the pediatric age group during the first wave of the pandemic. MATERIALS AND METHODS: This observational study was conducted in a COVID hospital in Malappuram from July 2020 to March 2021. Children under 12 years old admitted to the hospital with confirmed COVID-19 infection were included in the study. The study included main symptoms, duration of symptoms, laboratory analysis and relations with severity of disease, interventions required, and follow-up details. All these details were collected using a proforma. RESULTS: Four hundred ninety-two patients were included in the study. A total of 51.4% of these patients were asymptomatic. Only 1.8% of children had severe disease. The mean duration for which the symptoms lasted in each child was 1.9 ± 2.8 days (P = 0.00). There was a significant association between the severity of disease and presence of comorbidities, neutrophil-to-lymphocyte ratio (NLR), C-reactive protein (CRP), liver enzymes, serum ferritin, and X-ray findings (P < 0.05). Some skin lesions were noted in a group of children during the 3 months of follow-up (2%). CONCLUSIONS: During the first wave of COVID-19 pandemic, most of the children had asymptomatic disease. Severe disease was more common in children with chronic comorbidities. NLR, CRP, liver enzymes, serum ferritin, and chest X-ray findings can point toward the severity of the disease. Most of the children improved without any specific treatment. Some skin lesions such as urticaria were noted in the post-COVID period.

Younger Age and Albuminuria are Associated with Proliferative Diabetic Retinopathy and Diabetic Macular Edema in the South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) Study

Purpose: The purpose of the South Indian GeNetics of DiAbeTic Retinopathy (SIGNATR) Study is to identify non-genetic and genetic risk factors associated with diabetic retinopathy (DR). This report examines the non-genetic risk factors for DR in South Indian patients. Methods: Participants with South Indian ancestry and type 2 diabetes (T2D) were included from two sources: the Sankara Nethralaya Diabetic Retinopathy and Molecular Genetics Study (SN-DREAMS) and prospective recruitment at Sankara Nethralaya affiliates. Fundus photography and optical coherence tomography (OCT) were obtained on participants. Fundus images were graded for DR severity and OCTs were graded for center-involved diabetic macular edema (ciDME). Multivariate analyses were performed using stepwise logistic regression to assess effects of the demographic and clinical factors on proliferative DR (PDR) and DME. Results: Among the 2941 participants with DR grading, participants with PDR were more likely to be younger [odds ratio (OR)=0.95], men (OR = 1.83), have a longer duration of diabetes (OR = 1.10), have a higher hemoglobin A1c (OR = 1.12), have albuminuria (OR = 5.83), have hypertension (OR = 1.69), have a higher HDL (OR = 1.02) and a lower total cholesterol (OR = 0.99) (all p < 0.05). Among the 483 participants with gradable OCT scans, participants who had ciDME were more likely to be younger (OR = 0.97), men (OR = 2.80), have a longer duration of diabetes (OR = 1.06), have lower triglycerides (OR = 0.99), and have albuminuria (OR = 3.12) (all p < 0.05). Conclusions: Younger age, male sex, longer duration of diabetes, higher HbA1c, and presence of albuminuria were identified as risk factors for PDR and DME in a South Indian population with T2D.

Quality of life and Its Determinants among Cervical Cancer Patients in South India.

Cervical Cancer is the leading cause of morbidity and mortality in India. It affects the patient's, physical and psychological state which results in lower quality of life (QoL). Women with cervical cancer may require counselling and time to enable them to deal with the disease and its treatment. The present study aimed to determine the quality of life and its determinants among cervical cancer patients. A cross-sectional study was undertaken from April 2017 to September 2017 in a regional cancer centre in South India. Cervical cancer patients (N= 210) with histological confirmation were interviewed at the hospital. European Organization of Research and Treatment of Cancer (EORTC) questionnaire core module, QLQ-C30 Version 3.0, and recommended scoring algorithm were used to measure and analyse QoL. The Association of socio-economic determinants on quality of life was evaluated using multiple logistic regression. Among 210 cervical cancer patients enrolled, the majority 106 (50.5%) of women were between the age group 46 to 59 years and most, i.e. 167(63.0%) were not literate. The median score in the global health status was 50.0[IQR 33.3 - 66.7], 66.7[IQR 60.0 - 80.0] in physical functioning, and 83.3[IQR 66.7 - 83.3] in pain symptoms respectively which were poor compared to reference score of EORTC for all normal females and those with any cancer. The factors which were significantly associated with the GHS QoL score were the advanced stage of disease (OR:2.1, 95%CI: 1.1 - 3.9) and the age of the patients ≥60 years compared with ≤ 45 years (OR:18.4, 95%CI: 6.8 - 50.1). Cervical cancer patients had poor global health status compared to the reference score for all females with any cancer and the normal females. Advanced stage of cancer and older age have a significant association with QoL.

Patient, Disease, and Drug-Related Risk Factors Associated with Phenytoin- Induced Cutaneous Adverse Drug Reactions in South Indian Epileptic Patients - A Prospective Case-Control Study.

Phenytoin is the most commonly reported aromatic Anti-Epileptic Drug (AED) to cause Cutaneous Adverse Drug Reactions (CADRs). Cutaneous adverse drug reactions may be immune or non-immune mediated. It has been observed that predisposition is multifactorial and that gene mutations alone cannot be the cause. In this study, we investigated the patient, disease, and drug-related risk factors associated with phenytoin-induced cutaneous adverse drug reactions in South Indian epileptic patients. This study was conducted as a single-center prospective case-control study over a period of 13 months. The Fisher's exact test and multivariate binary logistic regression analysis were used to test the association of single and multiple variables, respectively. This study comprised 26 patients with phenytoin-induced cutaneous adverse drug reactions (PHT-CARDs) and 32 phenytoin-tolerant controls with a mean age of 40.60±18.15 and 36.21±14.71 years, respectively. Among 26 phenytoin-induced cutaneous adverse drug reactions, 76.92% cases were mild-moderate reactions and 23.07% were severe. The onset latency period of these reactions ranged from 7-42 days. The multivariate analysis showed that multiple AEDs (OR =18.62, 95% CI 4.28-80.87, p=< .001) and comorbidities (OR= 5.98, 95% CI 1.33-26.78, p=.01) are risk factors for PHT-CADRs. PHT-SCARs were shown to be associated with previous allergy history (OR= 31, % CI 2.40-398.8, p=.008). The risk factors found to be associated with CARDs in South Indian Epileptic patients are multiple AEDs, comorbidities, and past allergic history. Therefore, physicians and other associated health care professionals should closely monitor the patients when phenytoin is employed.

SLCO1B1 and ABCB1 variants synergistically influencethe atorvastatin treatment response in South Indian coronary artery disease patients.

Introduction: Atorvastatin exhibits wide interindividual variability in treatment response, limiting the drug efficacy in coronary artery diseasepatients. Aim: To study the effect of genetic variants involved in atorvastatin transport/metabolism and correlate their lipid-lowering efficacy. Materials & methods: Genotyping was performed using 5'-hydrolysis probe method (n=412), and the studyevaluated the treatment response in 86 patients. Results: Significant reduction in total cholesterol and low-density lipoprotein cholesterol(LDL-C) were observed in SLCO1B1-rs4149056, rs4363657and ABCB1-rs1045642 genotypes. The combined genotypes of ABCB1 and SLCO1B1showed a strong synergistic effect in reducing the total cholesterol and LDL-C. Diabetes and smoking were observed to influence the LDL-C reduction. Conclusion: The genetic variants of SLCO1B1 and ABCB1 predict the lipid-lowering efficacy of atorvastatin, and this may be useful in genotype-guided statin therapy for coronary artery disease patients.

Determinants of Health-Related Quality of Life in South Indian Patients with Rheumatoid Arthritis: A Structural Equation Modeling Approach

Introduction: The burden associated with rheumatoid arthritis (RA) is substantial, leading to pain, suffering, impaired physical function, disability and deterioration in quality of life of the patients. Very few studies evaluating health-related quality of life (HRQOL) and its determinants have been published among RA patients in Southern India. The aim of the present study is to investigate the various dimensions of HRQOL and its relationship with various sociodemographic characteristics, functional status and disease activity using a structural equation modeling (SEM) approach in patients with RA. Materials and Methods: A cross-sectional study was conducted among 110 patients attending tertiary care teaching hospital. SF 36 was used to assess the HRQOL. Disease activity score-28 (DAS28) was used to measure the disease activity and Health Assessment Questionnaire Disability Index (HAQ-DI) was used for measurement of functional disability. SEM analysis was performed to test and evaluate the structural relationships of the model using R Programming. Results: The mean age of patients was 44.85 ± 11.25 years and 92 (83.6%) were female. Lower HRQOL scores were obtained in the domain of role functioning/physical 48.86 (±40.55), general health 48.27 (±14.92) and physical functioning 40.45 (±23.76). SEM results showed that HAQ–DI and DAS28 were covariance with each other (r = 0.54, P = 0.039), HAQ-DI was a significant predictor of GenPHYS (P = 0.001) and DAS28 was a significant predictor of GenPHYS (P = 0.001) and GenMENT (0.025). Conclusions: Impact of RA was substantial in both physical and mental domains of HRQOL. The functional disability was having an impact on physical health, whereas disease activity was associated with physical and mental health domains of HRQOL.

Evaluation of patterns in mandibular fractures among South Indian patients.

The objective of this study is to evaluate the predicted mandibular fracture pattern among a sample of patients visiting a dental hospital in Chennai, India based on patient demographics. This retrospective analysis involved 46 patients out of which 39 were male and 7 were female who were referred to the Oral Surgery Clinic, Chennai. The medical records and orthopantograms for these 46 patients who received treatment for fractures of the mandible from June 2019- March 2020 were reviewed. Parameters such as age, gender, pattern of distribution, type of mandibular fracture, combination of the fracture and treatment done, were evaluated and assessed by one examiner and reviewed by 2 independent investigators. Data shows that the angle region to be the most common area to be affected (31.67%), accompanied by parasymphyseal region (28.33%), condylar region (13.33%), dento-alveolar region ( 10%), body (8.33%), symphyseal region ( 6.67%) and finally the coronoid region ( 1.67%). Data analysis also revealed that 84.78% of all patients with fractures of the mandible were male and 34.78% of all patients were in the age group of 21-30 years. Most fractures presented with a single fracture site (60.87%), and among combinations of fractures, fractures of parasymphyseal region along with angle region (41.67%) were seen more commonly. Pearson's Chi Square Test was used to determine the association linking the type of mandibular fracture and treatment modality used and p value was < 0.05, which was considered statistically significant. Thus, the patterns of mandibular fractures delineate a significant occurrence of angle fractures among mandibular fractures, commonly seen along with fractures of parasymphyseal region and occurring with a significant male predilection.

Quality of life post oral rehabilitation with complete short arch among South Indian patients.

Oral rehabilitation is essential in patients having multiple missing teeth, to restore esthetics and function. However replacement of complete dentition may not be possible in high risk patients or patients of low income group. The concept of SDA can be utilized in such patients to increase affordability and avoid over restoring. The aim of this study was to understand the prevalence of the requirement of oral rehabilitation according to age and gender of the individual as well as to compare the quality of life of patients rehabilitated with complete and short dental arches. Case sheets of around 28,000 patients were reviewed from March 2019 to June 2020 out of which 113 patients were undergoing oral rehabilitation. To eliminate bias all patients affected by the disease were included in the study. Epidemiological data of the patient along with their ongoing treatment was collected and tabulated in MS Excel sheet. Amongst the patients 36 patients were selected using simple stratified sampling and patients were asked to report their quality of life on a VAS scale using a quality of life questionnaire. The data was then analyzed using IBM SPSS software version 23. The prevalence of oral rehabilitation in males was 53.98% while in females it was 48.02%. Age group of 41-60 years was found to be most commonly undergoing oral rehabilitation. The most common extent of rehabilitation was 2nd molar - 2nd molar, around 23% patients underwent rehabilitation from 1st molar-1st molar and around 10% patients underwent rehabilitation from 2nd premolar-2nd premolar. Patient satisfaction was greatest in patients with complete arch restoration when compared to short dental arch restoration. Amongst SDA restoration patients rehabilitated till the first molar had greater satisfaction than patients rehabilitated till second premolar. With increase in lifespan the need for oral rehabilitation has increased, however it is not always possible or advised to restore the complete dentition of an individual. The present study helps us understand the prevalence of oral rehabilitation according to the gender and age of the patients as well as use of newer concepts such as SDA in the management of high risk patients. Within the limitations of the present study patient satisfaction was greater in complete arch restoration compared to SDA. Thus it is important to understand the requirements of the patient and rehabilitate accordingly, so as to provide the patient with the best esthetics and function possible.

Application of Physiologically Based Pharmacokinetic Modeling of Lamotrigine Using PK-Sim in Predicting the Impact of Drug Interactions and Dosage Adjustment

Objectives To build a lamotrigine (LTG) physiologically based pharmacokinetic (PBPK) model (LTG PBPK) and compare it to the clinical data from South Asian Indian patients and use this model to understand the drug interactions of LTG and explore the optimal doses. Methods and Material The PBPK model was developed using the PK-Sim software platform and qualified with LTG plasma concentration data from an Indian study. The European population database was chosen as the patient setting in the software. Physiochemical data of LTG and enzyme kinetic data were incorporated from the literature. Dosing protocols were as per the previous study. Interaction models for drug interactions with carbamazepine and valproate were also simulated. Results Most of the model predicted concentration-time profiles of LTG at steady-state were well within the observed concentrations. The developed models were suitably qualified. The drug interaction model was used to assess the impact of induction and inhibition of the pharmacokinetic profile of LTG. Conclusions The predicted plasma concentrations of the developed PBPK models using the European population database were very similar to the data from Indian patients. The developed LTG PBPK models are applicable in predicting the impact of drug interactions and can yield appropriate LTG doses to be administered.

Pharmacogenetic variants influence vitamin K anticoagulant dosing in patients with mechanical prosthetic heart valves.

Background: Vitamin K antagonists (VKAs) are class I oral anticoagulants that are widely prescribed following surgical heart valve implantation. The objective of this studywas to quantify the relative effects of VKORC1, CYP2C9 and CYP4F2 genotypes in predicting VKA dosing. Materials & methods: A total of 506 South Indian patients with mechanical prosthetic heart valves who were prescribed oral VKAs, such as warfarin or acenocoumarol, were genotyped. The discriminatory ability of mutant genotypes to predict dose categories and bleeding events was assessed using regression analysis. Results: The VKORC1 rs9923231, CYP2C9*3 and CYP4F2*3 mutant genotypes significantly influenced VKA-dose requirements and explained 27.47% of the observed dose variation. Conclusion: Theseresults support pharmacogenetic screening for initial VKA dosing among South Indian patients with mechanical prosthetic heart valves.

A single-centre, observational, retrospective study to evaluate coexistence of cardiovascular comorbidities and obstructive sleep apnoea in South Indians using apnea link air home sleep testing device

Background: The aim of the study was to explore whether there is a relationship between Cardiovascular (CV) comorbidities and the prevalence and severity of Obstructive sleep apnea (OSA).Methods: Secondary data analysis of 146 patients with suspected sleep-disordered breathing was conducted who were presented to the department of medicine, KIMS Hospital, Hyderabad, from June 2021 to November 2021. Participants aged ≥18 years were included in the analysis. Demographic details, clinical history, comorbidities, medication history, were analyzed. AHI score, ODI (Oxygen desaturation index) score and average O2 saturation were recorded with the help of a home sleep testing device. Data were entered and analyzed with Epi info 7.Results: The overall prevalence of OSA was 78.8% in patients with suspected sleep-disordered breathing. Prevalence of mild, moderate, and severe OSA was 28.8%, 15.1%, and 34.9%, respectively. Proportions of diabetes and hypertension were significantly high among patients with obstructive sleep apnea. Correlation analysis revealed a weak positive linear relationship (r=0.14) between the number of risk factors and the AHI score.Conclusions: This study showed high prevalence of OSA among out patients presented with suspected sleep disordered breathing. Hypertension, diabetes and obesity were highly prevalent CV comorbidities among South Indian patients diagnosed with OSA.

Health-related Quality of Life and Domain-specific Associated Factors among Patients with Type2 Diabetes Mellitus in South India.

OBJECTIVEType 2 diabetes mellitus (T2DM) is a chronic metabolic disorder that has a major impact on health-related quality of life (HRQOL). The economic burden of the disease, along with its complications, negatively impact the individual, family, and society of Indian diabetic patients. This study explored the perception of the diabetic HRQOL of South Indian type2diabetic patients.METHODSThis study was a cross-sectional descriptive quantitative study conducted in a tertiary care hospital in Chennai, Tamil Nadu, South India. Using the simple random sampling technique, we collected data from 352 T2DM patients aged ≥ 30 years of age who were diagnosed for a minimum of one year. Data collection occurred from June to August 2017. Data were analysed using IBM SPSS, Version 22.RESULTSOverall, 90% of patients with T2DM perceived poor HRQOL. The total and the domain- specific mean scores of HRQOL were high indicating poor HRQOL in energy mobility, diabetes control, anxiety and worry, social burden, and sexual functioning domains. Being female, increasing age, lower education levels, lower family income, and uncontrolled fasting blood glucose levels predicted poor HRQOL of patients with T2DM.CONCLUSIONST2DM impacted the HRQOL in all measured domains of participants. A patient-centred approach to diabetes management can be incorporated to improve or enhance the health-related quality of patients’ lives. Improved HRQOL also may lead to fewer hospitalizations, and hence, reduce healthcare costs.

Abstract P194: Polypill Eligibility For Patients With Heart Failure With Reduced Ejection Fraction In South India: A Secondary Analysis Of A Prospective, Interrupted Time Series Study

In India, data from large HF registries has demonstrated significantly lower 5-year mortality rates for patients with HFrEF discharged on guideline-directed medical therapy (GDMT), revealing an important target for intervention to improve clinical outcomes. Hospital-based quality improvement initiatives to increase rates of GDMT at hospital discharge have had limited effect, suggesting additional strategies are needed to improve GDMT rates in HFrEF patients. Polypills for HFrEF have been proposed as an implementation strategy to simplify the current treatment paradigm for undertreated patients with HFrEF. However, the potential effect of HFrEF polypills on increasing GDMT rates in target populations is unknown. The objective of this secondary analysis is to describe eligibility for a potential HFrEF polypill in the context of GDMT prescription rates for South Indian patients with HFrEF. We analyzed data from a prospective, interrupted time series study in 2018 (HFQUIK) that evaluated the effect of a quality improvement intervention on process of care measures and clinical outcomes in patients hospitalized with acute HFrEF in 8 hospitals in South India. The primary outcome was prescription of GDMT defined as an ACE-I or ARB or ARNi, along with a beta-blocker and aldosterone antagonist. Participants were eligible for a HFrEF polypill containing GDMT if LVEF&lt;40%, HR ≥50 beats/min, creatinine ≤2.5 mg/dL in men and ≤2 mg/dL in women, and potassium &lt;5 mEq/L. We included 937 participants with HFrEF (n = 494 control period, n = 443 intervention period). Prescription rates of ACE-I or ARB or ARNi, beta-blocker, and aldosterone antagonists were low on hospital admission and increased at hospital discharge. The prescription of GDMT increased from 5.5% (27/494) to 28.8% (127/494) in the control period and from 4.5% (20/443) to 42.3% (171/443) in the intervention period. Notably, more than 80% of participants were eligible for a HFrEF polypill at hospital discharge during both control (364/494) and intervention (336/443) periods, with similar rates among female and male participants. In this study, than 80% of patients were eligible for a HFrEF polypill at discharge. Although the HF QUIK quality improvement intervention increased rates of GDMT at hospital discharge, routine administration of a HFrEF polypill could further increase this rate and improve adherence by 44% (95% CI: 26% to 65%) in a population that remains undertreated despite targeted quality improvement interventions. Availability of multiple HFrEF polypill doses could prioritize safety and tolerability with low-dose initiation and subsequent titration to higher-dose polypills. This analysis suggests a simplified polypill-based management strategy could be transformative for closing the treatment gap in HFrEF inequities in India and globally.

Mutation profile of neurodegenerative mitochondriopathy – LHON in Southern India

BackgroundLeber’s Hereditary Optic Neuropathy (LHON) is a rare mitochondriopathy causing retinal ganglion cell degeneration resulting in central vision loss. It is caused by mitochondrial DNA (mtDNA) mutations and thus follows maternal inheritance pattern. MethodsWe analysed the whole mitochondrial genome in 100 South Indian LHON patients by utilizing Sanger and Next Generation Sequencing approaches. Haplogroup analysis was performed using HaploGrep2 to predict the risk group. Methylation changes in the mtDNA D-loop region were investigated by performing methylation-specific polymerase chain reaction (MSP). ResultsLHON associated mutations were detected in 55% of the patients of which 42% harboured the primary mutations and 13% harboured potentially pathogenic variants that were previously reported to cause LHON. The candidate mutations identified with confirmed pathogenicity are: m.11778G > A (38%), m.14484 T > C (3%), m.4171C > A (1%) and m.11696G > A (1%). MSP results demonstrated that the D-loop region was unmethylated in all the study subjects including mutation-positive patients, mutation-negative patients, asymptomatic carriers, and controls. Haplogroup-M was prevalent (69%) in the study cohort followed by R (14%), U (9%), N (3%), HV (2%), G (2%), and W (1%). The frequency of the predominant mutation m.11778G > A was found lower (̴ 11%) in haplogroup-U. ConclusionsSouth Indian LHON cohort shows a unique profile of mtDNA mutations and haplogroup association presumably with no role of D-loop methylation. MT-ND4, MT-ND5, and MT-ND1 serve as the hotspot genes in this cohort. The presence of LHON associated mutations in patients lacking the common primary mutations insists on the necessity of mitochondrial genome sequencing in individuals suspected with LHON.

Targeted exome sequencing in South Indian patients with Familial hypercholesterolemia

BackgroundFamilial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with elevated LDL-C levels which can ultimately lead to premature Coronary Artery Disease (CAD). ObjectivesIn presence of limited genetic data on FH in India, the present study was aimed to determine the mutation spectrum in Indian FH patients using a targeted exome sequencing. Methods54 FH cases (31 index cases + 23 extended family members) were categorized according to Dutch Lipid Clinic Network Criteria (DLCNC). Targeted exome sequencing was performed using 23 gene panel associated with lipid metabolism. ResultsAll subjects showed the presence of family history of CAD, 38(70%) patients had corneal arcus whereas only 06(11%) subjects had xanthomas. As per the DLCNC, definite, probable, possible and unlikely FH were 48%, 30%, 11% and 11% respectively. Mutations were observed in 12 of the 23 gene panel with CETP, APOA5, EPHX2 and SREBP2 genes were identified for the first time in Indian FH patients. All 19 mutations including a novel frame-shift mutation in LDLR gene were reported for the first time in Indian FH patients. These mutations were identified in 28(52%) subjects and interestingly ∼73% of the clinically identified FH patients didn’t harbour mutations in FH classical genes (LDLR, ApoB, PCSK9). ConclusionThis is the first study in the South Indian FH patients to perform targeted exome sequencing. Absence of mutations in the FH classical genes strongly indicates the polygenic nature of FH, further underscoring the importance of targeted exome sequencing for identifying mutations in genetically diverse Indian population.

Effectiveness of using technology as health education tool among diabetes patients in South India: A comparative analysis and community based intervention.

Type 2 diabetes mellitus is a serious, progressive condition presenting with chronic hyperglycemia. Its prevalence is gradually increasing at a global level. A diabetic has to make multiple choices daily about the management of their condition, such as appropriate dietary intake, physical activity and adherence to drugs. There is hardly any input from a healthcare professional for guidance on a daily basis. The aims of this study were to assess the change in knowledge by using various methods of health education as intervention and to compare the effect of technology as a tool of health education as compared to conventional methods of health education. A community-based interventional study was done in the field practice area of our Institute in South India. Two groups of people were selected from 40 adopted houses. One from urban; for intervention with technology, that is, health education using videos and the second group from rural population; for intervention with conventional method of health education, that is, using charts. The mean baseline knowledge score in urban and rural area was 3.76 and 9.97, respectively. There was statistically significant increase in knowledge among both the groups. By the use of technology in the urban population knowledge level increased from 3.76 to 10.15 and was found to be statistically significant. The difference in increase in knowledge was higher in the technology group as compared to conventional group. In the era of smartphone, technology-based health education can reduce the total health care manpower which is deficient. Technology is a boon to introduce lifestyle modification in chronic diseases like Diabetes Mellitus.

Psychosocial factors influencing distress among cancer patients in South India

Abstract Background: The increase of cancer rates in India over the last decade has placed a significant psychosocial burden on patients and their families. To address the psychosocial issues, cancer centers in India have integrated psychosocial services into cancer care by routinely measuring the distress of patients and responding to their distress. In this study, we sought to determine the association between self-reported distress and patient demographic and clinical variables and awareness of their diagnosis and prognosis. Methods: The Department of Psycho-oncology conducted a cross-sectional, cohort study of patients who were being treated for a variety of cancers in a comprehensive cancer center in Chennai, India. Cancer patients (N = 2019) completed a standardized measure of distress and participated in a clinical interview during their admission to a ward or at the time of referral to psycho-oncology. The level of distress was measured by the NCCN Distress Thermometer and problem list. Chi-square tests were used to examine variations in overall distress. Multi-nominal logistic regression analyses were used to assess the level of patients’ reported distress as a function of clinical characteristics (stage of cancer, awareness of diagnosis and prognosis, physical symptoms). Results: The majority (60.3%) of the sample reported a moderate to high level of emotional distress. There were significant associations (P &lt; .05) of younger age, awareness of diagnosis, prognosis, sleep issues, and physical pain with higher levels of distress. Patients who were aware of their diagnoses were more likely to report moderate (P &lt; .01) or severe distress (P &lt; .05) than those who were unaware. Patients who were aware of their prognoses were less likely to report moderate distress (P &lt; .001) and severe distress (P &lt; .001. Implications for Practice and Research: Given that a majority of patients rated at or above the clinical cut-off for distress, oncology centers in India need to provide training for professional psycho-oncology clinicians and incorporate psycho-oncology services to adequately address patients’ distress. Qualitative research may be needed to advance our understanding of specific social and cultural factors that may influence the psychosocial challenges faced by patients. Further investigation of patient distress related to diagnostic disclosure may be helpful in informing practice.

Prevalence of sarcopenia and its correlation with splenic stiffness in non-cirrhotic portal hypertension

Background and Aim: Sarcopenia is common in cirrhosis and has been reported to be an independent predictor of morbidity and mortality. However, there is little information on its prevalence and clinical importance in non-cirrhotic portal hypertension (NCPH). Hence, we undertook this study to determine the frequency of sarcopenia in south Indian patients with NCPH and its association with splenic stiffness and clinical outcome.

MU-Opioid Receptor (OPRM1) Gene Polymorphism and its Association with Alcohol Dependence: A Single Centre Study from Southern India

Introduction: Asn40Asp Opioid Receptor (OPRM1) polymorphism of the MU-OPRM1 gene has been widely studied with regard to its association with alcohol dependence however results have been conflicting with evidence of ethnicity mediated effects. Aim: To examine the association between OPRM1 polymorphism and alcohol dependence in patients of South Indian ethnicity. Materials and Methods: This cross-sectional study was conducted at Department of Psychiatry, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu, India, from November 2018 to May 2019. Cross-sectional assessments and peripheral venous blood genotyping were done in 50 male South Indian participants attending a tertiary care psychiatric setting. Clinical parameters such as severity of dependence and craving were assessed in addition to the subject’s OPRM1 genotype. The data collected was analysed using Statistical Package for the Social Sciences (SPSS) version 20.0. Results: The mean age of the subjects was 39.62±8.50 years. This study showed a statistically significant association between alcohol dependence and the OPRM1 polymorphism Asn40Asp among the study subjects (p-value &lt;0.05). Furthermore, there was a higher than expected prevalence of the polymorphism of 86% among patients. However, there was no significant association between the polymorphism and clinical phenotypes such as severity of dependence or craving. Conclusion: This study indicates a possible role of OPRM1 polymorphism in alcohol dependence in South Indian patients and warrants further research with larger sample sizes. The association if replicated will shed light on aspects of aetiopathogenesis as well as have implications on treatment.