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Introduction. Russian-Indian Anthropological expedition was organized in 2019 by Paleoethnology Research Center (Russia), Timiryazev State Museum of Biology (Russia) and Department of Anthropology University of Calcutta (India). The goal was to examine the peoples of Tripura state, North-East India. Data and methods. About 350 individuals from eight different locations next to Agartala were examined. Currently there are 19 tribes in Tripura, Tripuri being one of them. The most common Tripuri’s surname is Debbarma. During the research 254 Debbarmas were examined, among them 106 individuals were children and teenagers (58 male and 48 female), and 148 individuals were older than 17 years (76 male and 72 female). The Russian-Indian Anthropological expedition research consisted of a complex study of Tripuri including morphology of body, head and face, dermatoglyphics, and dental anthropology. Social questionnaire and anthropological photo were also obligatory. All data was hold according to bioethics and the Privacy law. For further examination the data was depersonificated. Results. During the survey, basic information about the individual, including tribal affiliation, was clarified. An extended questionnaire made it possible to study many aspects of social relationships and build a population-genetic network. According to somatometric characteristics, tripuri males from the Debbarma family have an average body length (162.1 cm), relatively broad shoulders and an average pelvic width. A cephalometric study of 19 features was carried out. The studied group can be characterized as brachycephalic, leptoprosopic according to the morphological facial index and mesorrhine according to the nasal index. The zygomatic diameter is large, and the mandibular diameter is above average (on the Indian scale of variability). A detailed fixation of cephaloscopic features in children and adults was carried out, which made it possible to describe tripuri as representatives of a large Asian-American branch (race) of humanity. According to the odontological program, 293 people were examined, 221 of which were tripuri. Anthropological photo-fixation was carried out, and based on these materials the first composite tripuri portraits were compiled, published in this article. Conclusion. In the second season of the Russian-Indian anthropological expedition, data were collected on one of the insufficiently studied peoples of Northeast India – the Tripuri tribe. The group was investigated according to the maximum number of anthropological methods available in the field. For the first time, somatometric, cephalometric and cephaloscopic materials have been obtained and preliminary presented.

Objectives: Malaria has been a major public health problem in India, with cases therein contributing significantly to the overall malaria burden within South East Asia. Majority of malaria cases in India have occurred within the eastern and central regions of the country. Over 80% of the country’s total malaria cases have been reported from 10states. Statistics for the state of West Bengal had reported approximately 26,000 and 25,000 malaria cases in 2014 and 2018, respectively, with Kolkata still being considered the most malaria-prone district of West Bengal. Methods: A cross-sectional study was designed based on data collected from the Kolkata Municipal Corporation documents on Taltala area residents during the winter. Collected data included age, sex, malaria category, medicine intake history, and others. Outcomes following medication, such as chloroquine tablets, artemisinin-based combination therapies, and primaquine, were also assessed.

Health Status is the basic indicator of human wellbeing and nutritional status. Deficiencies or imbalance in nutrient intake leads to malnutrition which is associated with a number of short- and long-term health consequences that alleviate the ability of an individual to sustain economically productive work and ultimately hinder the development of the whole nation. Thus, study on nutritional status requires urgent attention in order to prevent malnutrition related complications. In this background, the present study examines nutritional status of the Garos of West Garo Hills, Meghalaya. To achieve this purpose, cross-sectional study was conducted among 43 females and 57 males of 'Garos' from Asananggre village, West Garo Hills, Northeast India (Meghalaya). The study divulge taller and heavier males compared to females. Body Mass Index status of male and female did not differ significantly (p

The intercalated disc (ICD) is unique membrane structure that is indispensable to normal heart function, yet its structural organization is not completely understood. Previously, we showed that the ICD-bound transmembrane protein 65 (Tmem65) was required for connexin 43 (Cx43) localization and function in cultured mouse neonatal cardiomyocytes. Here, we investigated the role of Tmem65 in ICD organization in vivo . A mouse model was established by injecting CD1 mouse pups (3-7 days after birth) with recombinant adeno-associated virus 9 (rAAV9) harboring Tmem65 shRNA which resulted in a 90% reduction of Tmem65 expression in mouse ventricles compared to mice injected with scrambled shRNA. Tmem65 knockdown (KD) resulted in increased mortality which was accompanied by eccentric hypertrophic cardiomyopathy within 3 weeks of injection, progressing to dilated cardiomyopathy with severe cardiac fibrosis by 7 weeks post-injection. Tmem65 KD hearts displayed depressed hemodynamics, measured echocardiographically, accompanied by electrocardiogram changes (prolonged PR intervals and QRS duration) consistent with impaired conduction, which was confirmed with optical mapping of isolated hearts. Immunoprecipitation and super-resolution microscopy demonstrated a physical interaction between Tmem65 and sodium channel β subunit (β1) in mouse hearts and this interaction appeared to be required for both the establishment of perinexal nanodomain structure and the localization of both voltage-gated sodium channel 1.5 (NaV1.5) and Cx43 to ICDs. Despite the loss of NaV1.5 at the ICDs, whole-cell patch clamp electrophysiology did not reveal reductions in Na + currents but did show reduced Ca 2+ and K + currents in Tmem65 KD cardiomyocytes in comparison to control cells. We conclude that disrupting Tmem65 function results in impaired ICD structure, abnormal cardiac electrophysiology, and ultimately cardiomyopathy.

Obesity has been considered a complex and multifactorial disease that has almost affected one-third of the total world’s population. The present trend related to obesity has revealed that nearly 38% of the adults of the world’s population will suffer from the issues of being overweight by the year 2030. As per the ICMR-India study in the year 2015, the prevalence rate of obesity in India varies between 11.8% to 31.3%. The risk of cardiovascular diseases is prevalent around the world, and estimated CVD cases in the year 2015 were approximately 422.7 million, causing 17.6 million deaths (32%of global deaths) as per WHO statistics in 2016. The Indian health data of 2017 has revealed that 25.27% of the population have suffered mortality rate due to the occurrence of CVD in India. Hence, the implementation of health programs for identifying the community risk factors for preventing these diseases has evolved.

The real-time reverse transcription-polymerase chain reaction (RT-PCR) is considered as the sensitive proof for detecting the viral infection of the SARS-CoV-2 virus obtained from respiratory samples. The quantitative values for the analysis are benecial for estimating the transmissibility of people who test positive for SARS-CoV-2. This can be further achieved by analyzing the samples by semiquantitative means through the interpretation of the cycle threshold (Ct) values of RT-PCR that represent the rst cycle of PCR at which a detectable signal appears during the assays. The Ct value shows a correlation between high viral load and disease infectiousness, which is observed with other respiratory viruses, including the inuenza B infection and rhinovirus infection. Hence, the present study aims to analyze the surveillance of COVID-19 to monitor longer-term epidemiologic trends and trends in deaths due to COVID-19. In order to achieve this aim, the present review was reported to the preferred reporting items for systematic reviews and meta-analysis statements (PRISMA) for analyzing the Ct value-based epidemic predictions and to monitor long-term epidemiologic trends of SARS-CoV-2 virus. Total 33 studies have been nalized for nding out the results of the study. The epidemiologic parameter and a representative of the surveillance data for reporting to the World Health Organization were fullled by analyzing the systematic review and metaanalysis of the selected study. Moreover, the evaluation of the impact of the pandemic on the health care system and society was achieved by analyzing the studies mentioned here.

The review was aimed at understanding the immune dysregulation by the novel virus, COVID-19. The review also highlighted the major findings that have been published in the previous studies through secondary research about the mechanism of immune dysregulation, transmission and progression of the virus across the globe. Adults above the age of 60 years and with co-morbidities such as cardiac and renal dysfunction, hypertension and diabetes are predisposed to greater risk of COVID-19 infection. The virus impairs the physiological, psychological and metabolic functioning of the patient. The paper gained an insight into the need for immunization priority for the Indian population and recommendations for the effective policy making in vaccine development and distribution.

Introduction. Severe Acute Respiratory Syndrome-2, possesses varying degrees of susceptibility and lethality worldwide and WHO declared this as a pandemic of this century. Aim. In this background, the aim of this present narrative is to provide a complementary overview of how low iron stores and mild anemia offers protection from infectious diseases like COVID-19 by restricting the viral replication and also to suggest some potential adjuvant therapeutic interventions. Material and methods. Therefore, we performed a literature search reviewing pertinent articles and documents. PubMed, Google Scholar, Chemrxiv, MedRxiv, BioRxiv, Preprints and ResearchGate were investigated. Analysis of the literature. Recent studies reported drastic systemic events taking place that contribute to the severe clinical outcomes such as decreased hemoglobin indicating anemia, hypoxia, altered iron metabolism, hypercoagulability, oxidative stress, cytokine storm, hyper-ferritinemia and thus Multi Organ Failure, reportedly hailed as the hallmark of the COVID-19 hyper- inflammatory state. Interestingly it is globally observed that, countries with higher Socio-economic status (SES) have considerably lower prevalence of Iron Deficiency Anemia (IDA) but higher Case Fatality Rate (CFR) rate due to COVID-19 while, low SES countries characterized by the higher prevalence of IDA, are less affected to COVID-19 infection and found to have less CFR, which is almost half to that of the higher SES counterpart. Conclusion. Present review presumed that,low iron stores and mild anemia may play a beneficial role in some cases by offering protection from infectious diseases as low iron restricts the viral replication.Thus, suggested iron chelation or iron sequestration as an alternative beneficial adjuvant in treating COVID-19 infection.

Obesity is one of the risk assessments for various non-communicable diseases (NCDs), while anthropometric measurements are one of the measures of obesity, which has been demonstrated as a time-tested important technique for risk assessment of NCDs. Due to variation of anthropometric measurements, it seems difficult to classify obesity using world cut-offs in different population groups. The objective of the present study is to discern the population-specific obesity cut-offs and the best obesity predictor among two indigenous ethnic groups (Tripuri and Halam women) of Tripura, North East India. The subjects of the present study were 88 Tripuri and 98 Halam adult women whose anthropometric measurements were obtained by using standard techniques. The area under curve (AUC) and Youden index (YI) were used to evaluate the performance of each anthropometric adiposity indicator as well as optimal obesity cut-offs. The age and waist-hip ratio (WHR) was significantly higher (p < 0.05) in Tripuris compared to Halams. However, no significant (p > 0.05) differences were observed in obesity categorized by body mass index (BMI) using the WHO 2004 cut-off between the populations. Waist stature ratio (WSR) (AUC = 0.959) and waist circumference (WC) (AUC = 0.804) were better obesity predictors for Halams and Tripuris respectively. The present study envisaged the optimal cut-off points, which were 84.95 cm for WC, 96.45 cm for hip circumference (HC), 29.95% for the percentage of body fat (PBF), 0.89 for WHR, 0.57 for WSR and 1.27 for conicity index (CI) in Halams, while for the Tripuris, the optimal cut-off points were 89.6 cm for WC, 97.5 cm for HC, 33.1% for PBF, 0.95 for WHR, 0.55 for WSR and 1.02 for CI. In conclusion, the present study indicated the optimal anthropometric cut-offs which could be the redefined the parameters for assessment of obesity in Halam and Tripuri women.

Pain modulation of dopamine-producing nuclei is known to contribute to the affective component of chronic pain. However, pain modulation of pain-related cortical regions receiving dopaminergic inputs is understudied. The present study demonstrates that mice with chronic inflammatory injury of the hind paws develop persistent mechanical hypersensitivity and transient anxiety. Peripheral inflammation induced by injection of complete Freund's Adjuvant (CFA) induced potentiation of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic receptor (AMPAR) currents with a presynaptic component in layer II/III of the ACC. After four days of inflammatory pain, the dopamine-mediated inhibition of AMPAR currents was significantly reduced in the ACC. Furthermore, dopamine enhanced presynaptic modulation of excitatory transmission, but only in mice with inflammatory pain. High-performance liquid chromatography (HPLC) analysis of dopamine tissue concentration revealed that dopamine neurotransmitter concentration in the ACC was reduced three days following CFA. Our results demonstrate that inflammatory pain induces activity-dependent changes in excitatory synaptic transmission and alters dopaminergic homeostasis in the ACC.

Type 2 diabetes mellitus (T2DM) is a multifactorial disease caused due to induced obesity and the influence of genetic polymorphism. Calpain-10 (CAPN10) gene and its genetic polymorphism (SNP-19) significantly alter insulin sensitivity assayed by the synthesis of a mutant protein and/or altered transcriptional regulation, which could contribute to the diabetes risk. The role of CAPN10 genetic polymorphism in T2DM has widely been studied in different populations and obtained variable results. Considering the variable results in different ethnic groups, the present study is an attempt to understand the association of CAPN10 (SNP-19) genetic polymorphism and obesity with T2DM in Bengali Hindu caste population. The present study consisted of 104 clinically diagnosed type 2 diabetes mellitus male patients (Age range = 23–80 years) and 176 apparently healthy males (Age range = 18–79 years) without T2DM and family history of T2DM from Bengali Hindu caste population. Genomic DNA was isolated from mouthwash using phenol-chloroform method with slight modifications. PCR method has been used to perform genotyping of (CAPN10 snp-19). Anthropometric and physiological variables have been collected by using standard method. Overall, the distribution CAPN10 (SNP-19) genotypes revealed no significant difference between T2DM patients and control group. However, T2DM patients with II genotype have significantly (p < 0.05) higher WHR compared to ID and DD genotypes. Individuals with DD genotype demonstrated significant (p < 0.05) higher risk associated with T2DM than (II+ID) genotype with increase in BMI, WC, and HC. The findings of the present study might incorporate as criterion for early prognosis of T2DM in Bengali Hindu caste.

The intercalated disc (ICD) is unique membrane structure that is indispensable to normal heart function. However, its structural organization is not well understood. Previously, we showed that the ICD-bound transmembrane protein 65 (Tmem65) was required for connexin 43 (Cx43) localization in cultured mouse neonatal cardiomyocytes. Here, we investigated the role of Tmem65 in ICD organization in vivo . A mouse model was established by injecting CD1 mouse pups (3-7 days after birth) with recombinant adeno-associated virus 9 (rAAV9) harboring Tmem65 (or scrambled) shRNA. Quantitative polymerase chain reaction (qPCR) and immunoblots confirmed greater than 85% reduction in Tmem65 expression (7.1±0.7% remained for Tmem65 proteins; 14.4±2.5% remained for Tmem65 transcripts, n =4) in mouse ventricles compared to control hearts. Tmem65 knockdown (KD) mice exhibited heart failure-like symptoms as early as 3 weeks post viral administration. Specifically, Tmem65 KD mice developed eccentric hypertrophic cardiomyopathy in 3 weeks and dilated cardiomyopathy with severe cardiac fibrosis in 7 weeks, as confirmed by H&E and Masson’s Trichrome staining. Echocardiography and electrocardiography, respectively, showed depressed hemodynamics (19.27±1.46ml/min for cardiac output in control hearts vs. 6.63±0.52ml/min for Tmem65 KD hearts, n =6) and impaired conduction, including prolonged PR (22.7±1.85ms in control hearts vs. 28.89±3.85ms in Tmem65 KD hearts, n≥8), QRS intervals (10.47±0.42ms in control hearts vs. 16.35±0.36ms in Tmem65 KD hearts, n≥8), and slowed heart rate (415±10bpm in control hearts vs. 347±16bpm in Tmem65 KD hearts, n≥8) in Tmem65 KD mouse hearts. Immunoprecipitation and super-resolution microscopy confirmed the physical interaction and localization between Tmem65 and voltage-gated sodium channel β subunit (β1) at the ICD and this interaction was evidently required for the establishment of perinexal nanodomains and voltage-gated sodium channel 1.5 (NaV1.5) localization to the ICD. Disrupting Tmem65 function, thus, impaired perinexal structure, reduced conduction velocity, and ultimately resulted in cardiomyopathy in vivo .

Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants. Methods Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized. Results Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity. Conclusion We expand the clinical and mutational spectrum associated with PPA2 dysfunction. Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. Alcohol intake can trigger cardiac arrest and should be strictly avoided.

OBJECTIVE Chronic testosterone blood concentrations associate with food intake (FI), but acute effects of testosterone on appetite and effect of protein and glucose consumption on testosterone response have had little examination. METHODS In a randomized, crossover study, twenty-three adolescent (12-18 years old) males were given beverages containing either: (a) whey protein (1 g/kg body weight), (b) glucose (1 g/kg body weight) or (c) a calorie-free control (C). Plasma testosterone, luteinizing hormone (LH), GLP-1 (active), ghrelin (acylated), glucose, insulin and subjective appetite were measured prior (0) and at 20, 35 and 65 minutes after the consumption of the beverage. FI at an ad libitum pizza meal was assessed at 85 minutes. RESULTS Testosterone decreased acutely to 20 minutes after both protein and glucose with the decrease continuing after protein but not glucose to 65 minutes (P = 0.0382). LH was also decreased by both protein and glucose, but glucose had no effect at 20 minutes in contrast to protein (P

Background: Skin pigmentation is one of the most variable phenotypic traits and most noticeable of human polymorphisms. Skin pigmentation in humans is largely determined by the quantity and distribution of the pigment melanin. The literature review on skin color variation revealed a few works on skin pigmentation variation has been conducted in India from Southern, Western and Northern part. Aims and Objectives: To best of the knowledge, the present discourse is the first attempt to understand skin color variation from Eastern and North Eastern part of India among three populations. Materials and Methods: The present study consisted of 312 participants from Chakma and Tripuri groups of Tripura, North East India, and participants from Bengalee Hindu caste population from West Bengal. Skin color was measured by Konica Minolta CR-10 spectrophotometer which measures and quantifies the colors with a 3D color space (CIELAB) color space created by 3 axes. All the skin color measurements from each participant were taken from unexposed (underarm) left and right to get a mean and exposed (forehead) to sunlight. Results: The distribution of skin color variation among the three populations demonstrated significant (p

Authors are thankful to the participants for their voluntary participation. Financial help obtained from University of Calcutta [(BI (65) 8 & 9]. Authors are also grateful to Dr. Rajesh Chatterjee, faculty member of Tripura University for his support and cooperation.

Depression is a leading cause of disabilities around the world, and the underlying mechanisms involved in its pathophysiology are broad and complex. Exposure to chronic stress is a risk factor for developing depressive-symptoms and contributes to cellular and molecular changes precipitating the emergence of symptoms. In the brain, excitatory neurons, inhibitory interneurons and supporting astroglial cells are all sensitive to chronic stress exposure and are known to be impaired in depression.Using an animal model of chronic stress, we assessed the impact of variable durations of chronic stress on the emergence of behavioral deficits and associated molecular changes in the prefrontal cortex (PFC), brain region highly sensitive to stress and impaired in depression. Mice were exposed to up to 35 days of chronic restraint stress and were assessed weekly on behavioral tests measuring anxiety and anhedonia. PFC Protein and RNA levels of specific markers of excitatory, inhibitory synapses and astroglia were quantified using western blot and qPCR, respectively. Correlation and integrative network analyses were used to investigated the impact of chronic stress on the different compartments.Results showed that chronic stress induces anxiety-like behaviors within 7 days, while anhedonia-like behaviors were observed only after 35 days. At the molecular level, alterations of many markers were observed, in particular with longer exposure to chronic stress. Finally, correlation analyses and integrative network analyses revealed that male and female mice react differently to chronic stress exposure and that some markers seem to be more correlated to behaviors deficits in males than in females.Our study demonstrate that chronic induces a dynamic changes that can be observed at the behavioral and molecular levels, and that male and female mice, while exhibiting similar symptoms, have different underlying pathologies.

Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): The Zurich ACM Program is supported by generous grants from the Georg and Bertha Schwyzer-Winniker Foundation, the Baugarten Foundation, Swiss National Science Foundation, Swiss Heart Foundation and Wild Foundation. This work is also supported by a Canadian Institutes of Health Research grant (FRN: 162402) and the Labatt Heart Centre and Waugh Family Innovation Funds, Caitlin Elizabeth Morris Memorial Fund, Alex Corrance Memorial Foundation and Meredith Cartwright. BACKGROUND Arrhythmogenic right ventricular cardiomyopathy (ARVC) has several phenocopies such as cardiac sarcoidosis (CS), idiopathic outflow tract ventricular tachycardia (OT-VT) and myocarditis. Differentiation between these entities can be challenging. Recently, we have identified diagnostic anti-desmoglein-2 autoantibodies (anti-DSG2 Abs) in patients with ARVC. PURPOSE We sought to examine whether anti-DSG2 Abs are also present in clinical phenocopies of ARVC. METHODS Anti-DSG2 Abs in sera of 25, 19 and 22 patients with sarcoidosis, OT-VT and myocarditis, respectively, were assessed by western blots and ELISA. Clinical and imaging parameters, as well as conventional biomarkers were correlated to detected anti-DSG2 Ab intensity levels. RESULTS Anti-DSG2 Abs, at various intensities, were identified in 6/25 (24%) patients with sarcoidosis, all presenting with CS, but were absent in patients with OT-VT and myocarditis. Cardiac 18F- fluorodeoxyglucose positron emission tomography (18F-FDG PET) was positive in all sarcoidosis patients with positive anti-DSG2 Abs, corresponding to a median PET maximum standardized uptake value (SUVmax) of 5.65 [IQR: 5.15 – 10.9]. In sarcoidosis patients without anti-DSG2 Abs, the SUVmax values were significantly lower with a median of 0 [IQR: 0 – 4] (p = 0.011). The Pearson correlation coefficient (R) was 0.188 (p = 0.039) indicating a positive correlation between cardiac 18F-FDG uptake and anti-DSG2 Abs. No significant correlation was detected for any of the other clinical parameters and biomarkers. CONCLUSIONS In addition to being present in ARVC, anti-DSG2 Abs are also found in CS, a common phenocopy of ARVC; conversely, anti-DSG2 Abs are absent in idiopathic OT-VT and myocarditis. Anti-DSG2 Ab levels positively correlate with myocardial disease activity in CS as indicated by cardiac 18F-FDG PET scanning. Abstract Figure. Central illustration

Introduction Rat mothers exhibit natural variations in care that propagate between generations of female offspring. However, there is limited information on genetic variation that could influence this propagation. Methods We assessed early‐life maternal care received by individual female rat offspring, later‐life maternal care provisioning, and dopaminergic activity in the maternal brain in relation to naturally occurring genetic polymorphisms linked to the dopaminergic system. We also conducted a systematic analysis of other genetic variants potentially related to maternal behavior in our Long‐Evans rat population. Results While we did not find a direct relationship between early‐life licking received and later‐life licking provisioning, this relationship was indirectly affected by dopamine levels in the nucleus accumbens and dependent on variation in the dopamine receptor 2 gene (rs107017253). More specifically, female rat offspring with the A/G genotype showed a positive relationship between average licking received and dopamine levels in the nucleus accumbens of the maternal brain; there was no relationship with female rat offspring with the A/A genotype. The higher dopamine levels in the nucleus accumbens corresponded with higher maternal licking provisioning from postnatal days 2–9. We also discovered and validated several new variants that were predicted by our systematic analysis. Conclusion Our findings suggest that genetic variation influences the relationship between early‐life maternal care received and the dopaminergic system of the maternal brain, which can indirectly influence later‐life maternal care provisioning., Rat mothers exhibit natural variations in care that propagate between generations of female offspring, but there is limited information on genetic variation that influences this propagation. We assessed early‐life maternal care received by individual female rat offspring in relation to genetic polymorphisms linked to dopaminergic activity, maternal care provisioning, and dopaminergic activity in the maternal brain. We found that dopamine receptor 2 (rs107017253) variation interacted with the relationship between early‐life maternal care received and dopamine levels in the nucleus accumbens which, in turn, were associated with later‐life maternal care provisioning.

Introduction Cardiac sarcoidosis (CS) is an inflammatory granulomatous disease of unknown origin. CS and arrhythmogenic right ventricular cardiomyopathy (ARVC) are overlapping syndromes. With both, patients are at increased risk of ventricular arrhythmias and sudden cardiac death. However, the diagnosis of CS is challenging, especially in patients with no extracardiac involvement, but correct diagnosis has large therapeutic impact. Recently, a novel diagnostic autoantibody (anti-DSG2 Ab) was identified in ARVC. We sought to identify this antibody in CS patients and correlate its levels with inflammation activity using cardiac positron-emission-tomography (18-FDG-PET). Methods Recombinant human desmoglein-2 (DSG2) proteins on western blots were exposed to sera as well as purified IgG of 14 patients with sarcoidosis (all confirmed by histology) and 6 controls (1 ARVC patient (positive control) and 5 healthy control subjects (negative control)). Clinical patient characteristics were correlated to detected antibody intensity levels. Results The sarcoidosis cohort comprised 43% (6/14) male patients and the average age was 50±12 years. Anti-DSG2 Abs were identified in 43% (6/14) and were detected faintly (below cut off level) in 21% (3/14) of all sarcoidosis patients. Antibody was also present in the ARVC patient (1/1) and was absent in all control subjects (5/5). Myocardial inflammation was present in 18-FDG PET imaging in all CS patients with positive anti-DSG2 Abs, corresponding to an average SUV (standardized uptake value) of 8.1±4.2. In patients with faint or no antibody, the SUV values were significantly lower with 1.2±2.1 and 3.2±4.0, respectively (P=0.044, one-way ANOVA). The Pearson correlation coefficient (R) was 0.6 (P=0.037) for SUV vs. higher antibody levels assessed by pixel count of the western blot bands for purified IgG. Conclusions Anti-DSG2 Abs are not only a specific biomarker for ARVC, but are also found in CS, suggesting a similar pathophysiological mechanism in these overlapping syndromes, both involving cardiac inflammation and myocyte cell death. Moreover, antibody levels correlate with disease activity on cardiac PET imaging. Larger cohorts are necessary to confirm these findings. Funding Acknowledgement Type of funding source: None

Background Body composition and obesity is one of the major health related risk factors leading to increased metabolic mortality and morbidity. The Association of genetic polymorphism with obesity and body composition is one way to assess the health status of a given population. In Indian region of east and north east, population-based studies have been conducted to assess the relation of body composition and obesity with gene polymorphism known to be associated with obesity and cardiovascular health and disease. Methods The current study consisted of different ethnic groups of Eastern and North Eastern part of India. A total of 225 randomly selected apparently healthy unrelated (free from any major diseases) adult individuals of 12 Ethnic groups were selected for the present study. Kurmi, Bhumij and Bouri population of Purulia District, and Bengali population of Kolkata, West Bengal, Meitei population of Manipur, Kolui, Riang, Rupini, Chakma and Tripuri of Tripura, Santal and Sabar population of Jharkhand, India were incorporated in the present study. FTO, ACE3, PSD3 and A604G genotyping by Restriction Fragment length Polymorphism (RFLP) was performed to study specific Single Nucleotide Polymorphism (SNP) among the population. Anthropometric and socio demographic data were collected from all the subjects as per standard procedure. Overweight and obese categories for BMI classification was determined using classifications based on BMI, WC, WHR, WSR and BF percentage. Results The genetic polymorphism studied showed no significant relation among any of the 4 gene polymorphism with body composition variables. Smaller insignificant fraction of polymorphism for ACE, FTO gene was observed in population 3. PSD3 and A604G and polymorphism was not observed in any of the population studied. Conclusion Comparison of the results from anthropometric, physiological, metabolic data on the basis of body composition and gene polymorphism indicated that the studied population of twelve ethnic groups might not be susceptible to ACE, FTO, PSD3 and A604G associated obesity related disease.

In most mammals, mothers exhibit natural variations in care that propagate between generations of female offspring. However, there is limited information on genetic variation that influences this propagation. We assessed early-life maternal care received by individual female rat offspring in relation to genetic polymorphisms linked to dopaminergic activity, maternal care provisioning, and dopaminergic activity in the maternal brain. We also conducted a systematic analysis of other genetic variants potentially related to maternal behavior in our Long-Evans rat population. We found that dopamine receptor 2 (rs107017253) variation interacted with the relationship between early-life maternal care received and dopamine levels in the nucleus accumbens which, in turn, were associated with later-life maternal care provisioning. We also discovered and validated new variants that were predicted by our systematic analysis. Our findings suggest that genetic variation influences the relationship between maternal care received and maternal care provisioning, similar to findings in human populations.

Aims Brugada syndrome (BrS) is characterized by a unique electrocardiogram (ECG) pattern and life-threatening arrhythmias. However, the Type 1 Brugada ECG pattern is often transient, and a genetic cause is only identified in Methods and results For antibody (Ab) discovery, normal human ventricular myocardial proteins were solubilized and separated by isoelectric focusing (IEF) and molecular weight on two-dimensional (2D) gels and used to discover Abs by plating with sera from patients with BrS and control subjects. Target proteins were identified by mass spectrometry (MS). Brugada syndrome subjects were defined based on a consensus clinical scoring system. We assessed discovery and validation cohorts by 2D gels, western blots, and ELISA. We performed immunohistochemistry on myocardium from BrS subjects (vs. control). All (3/3) 2D gels exposed to sera from BrS patients demonstrated specific Abs to four proteins, confirmed by MS to be α-cardiac actin, α-skeletal actin, keratin, and connexin-43, vs. 0/8 control subjects. All (18/18) BrS subjects from our validation cohorts demonstrated the same Abs, confirmed by western blots, vs. 0/24 additional controls. ELISA optical densities for all Abs were elevated in all BrS subjects compared to controls. In myocardium obtained from BrS subjects, each protein, as well as SCN5A, demonstrated abnormal protein expression in aggregates. Conclusion A biomarker profile of autoantibodies against four cardiac proteins, namely α-cardiac actin, α-skeletal actin, keratin, and connexin-43, can be identified from sera of BrS patients and is highly sensitive and specific, irrespective of genetic cause for BrS. The four involved proteins, along with the SCN5A-encoded Nav1.5 alpha subunit are expressed abnormally in the myocardium of patients with BrS.