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Gene therapy is an experimental treatment being investigated to correct defective genes that are responsible for disease development. To treat cancer and genetic illnesses, researchers are looking into a variety of gene therapy techniques. Finding a proper vector to transfer DNA into tissues is one of the most difficult aspects of gene therapy. Some gene therapy vectors have issues with infecting both quiescent and dividing cells, provoking an immunological response, lack of indefinite expression, and reproducible high titre. The adenovirus, retrovirus, and recombinant modified adeno-associated virus are top contenders for gene therapy vectors (rAAV). The issues with gene therapy may be resolved by the adeno associated virus (AAV). Hemophilia is a condition which may be benefited by the gene therapy using AAV as vector. Aim of this review is to emphasize on the role of adeno associated virus receptors(AAVR) and co-receptors in tropism and transduction of adeno associated virus(AAV) in the gene therapy of hemophilia In Vitro as well as In Vivo.

Introduction and Aim: Osteoporosis is common among women following 10 years of cessation of menstruation, due to bone loss accelerated by menopause. The study was done to evaluate the effect of duration of menopause on bone turnover markers (BTMs). Materials and Methods: The study involved 100 postmenopausal women; 50 osteoporotic and 50 non-osteoporotic. Comparison and correlation of serum calcium, phosphorus, alkaline phosphatase (ALP), serum osteocalcin (sOC) and urinary hydroxyproline (uHP) were done based on duration of menopause. Comparison of biochemical parameters was done using Independent t-test and ANOVA test for two groups and more than two groups respectively. Correlation was done using Pearson’s correlation test. Statistical significance was considered at p15 YSM was 82%. Duration of menopause correlated better with sOC (r=-0.633) than uHP (r=0.575) (p

After the devastating second wave of COVID-19, with the rapid increase in the number of new cases in many states of India marking the beginning of a probable third wave of COVID-19, our best bet is taking a jab to protect against COVID-19. Currently, licensed vaccines are found to be reasonably safe and effective. The second wave of COVID-19 was devastating, but it's a silver lining to note that most of the individuals who had taken the jab recovered with mild infections, and the hospitalization rates among jabbed individuals were meager. Various rumours related to the efficacy, safety, content, and side effects of the vaccine in India had caused a plunge in the vaccine acceptance rate leading to hesitancy and carelessness among the Indian population. This is a critical time for facts, not fear or rumors. This review provides an insight into the myths, pros and cons, and efficacy of the available vaccines.

Background: Chronic kidney disease (CKD) is a major public health concern in recent years mainly due to its adverse clinical outcomes. It is most commonly attributed to diabetes mellitus (DM) and hypertension (HTN). Among the several novel biomarkers discovered to detect impaired renal function, serum cystatin C (SCysC) has gained importance. Objectives: The aim of the study was to compare SCysC and serum creatinine (SCr) in CKD subjects and apparently healthy controls. Methods: This case-control study comprising of 120 diagnosed cases of CKD and 40 controls was conducted at a tertiary care hospital. SCr and SCysC levels were estimated using modified Jaffe’s method and particle enhanced immunoturbidimetric method, respectively. Estimated glomerular filtration rate (eGFR) was calculated using CKD EPI formula. Comparison of SCr and SCysC between cases and controls was done using Mann Whitney U test. Pearson’s correlation test was used to study the correlation between variables. Statistical significance was considered at P

Osteocalcin (OC) and bone mineral density (BMD) measurements determine the bone mass and microarchitecture of bone. Both are used for diagnosing osteoporosis and their role as a biomarker in postmenopausal osteoporosis (PMO) remains controversial. To determine the relationship between serum OC and PMO and compare BMD vs OC, a metaanalysis was carried forward with case-control studies. Studies reporting mean/median and standard deviation of osteocalcin in post-menopausal women with and without osteoporosis were included. From the same studies, BMD measurements in both groups were included. Fifteen studies were included with 1864 postmenopausal women. We found significant increase in serum OC (Standardized Mean Difference of 0.918 and SE of 0.476 (p=0.054), confidence interval (CI) (-0.015 to 1.852) and significant decrease in BMD values (SMD of -2.321 and SE of 0.345 (p= 0 and significantly low BMD/t score levels with SMD 0 serum osteocalcin solely can be implemented as a promising marker for diagnosing osteoporosis.

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Background: Obesity in the younger age groups predisposes an individual for a high risk for developing dyslipidemia and cardiovascular disease. Distribution of the abdominal adipose tissue cannot be accurately described by the traditional anthropometric indices.Newer anthropometric indices are better predictors of obesity. Objective: To compare the ability of different anthropometric indices in predicting dyslipidemia in healthy young adults. Materials and Methods: The cross-sectional study was performed on 100 subjects (48 males and 52 females) at K S Hegde Medical Academy from 2017 to 2018 (power of study: 80%). Apparently healthy individuals attending the executive health checkup plan and individuals from hospital staff aged 18-35 years were selected for the study. The Kolmogorov Smirnov test was used to determine the data's normality. Pearson's correlation test was used to measure the relationship between lipid parameters and various anthropometric indices. The predictive capacity of various anthropometric indices for distinguishing between dyslipidemic and healthy individuals was investigated using ROC curve analysis. Results: Newer anthropometric measurement approaches such as ABSI, BRI, CI, AVI, VAI, and LAP have been suggested as better instruments for predicting dyslipidemia. The present study found that VAI had the highest predictive efficiency in identifying dyslipidemia among apparently healthy adults using ROC analysis. This discovery may lead to the use of a simple anthropometric index as a screening tool for cardiovascular disease prediction. Conclusion: The current study has shown that the VAI has emerged as a valuable instrument for dyslipidemia assessment in healthy young adults. Using regular laboratory tests and basic anthropometric measurements, VAI can be easily measured and can therefore be used as relevant dyslipidemia evaluation methods in clinical practice.

Bone is a dynamic tissue that undergoes constant remodeling throughout the life span. Bone turnover is an equilibrium between the rates of bone formation and resorption. Assay of bone turnover markers (BTMs) is very important as they provide an insight in to the dynamics of bone turnover in many metabolic bone disorders. An increase in bone turnover seen with aging and pathological states such as osteoporosis leads to deterioration of bone microarchitecture and thus contributes to an increase in the risk of fracture independent of low bone mineral density (BMD). These microarchitectural alterations affecting the bone quality can be assessed by BTMs and thus may serve as a complementary tool to BMD in the assessment of fracture risk. Osteoporosis is a major health problem in India with 230 million people getting affecting. Women get more crippled as they show an additional accelerated phase of bone loss, which occurs 10 years earlier in India. Bone health in Indian women is more appalling with deficient nutritional status as compared to their counterparts. Biochemical assays are non-invasive, not site specific, reflect the turnover of entire skeleton, can detect early changes in the bone turnover. The present review was aimed to discuss the normal architecture of bone, markers of it’s turnover and their role in osteoporosis in India.

Objective: The objective of the study is to compare three techniques, routinely used rapid diagnostic tests (lateral flow immune chromatography) versus nucleic acid amplification test (NAT) versus Paper-based microfluidics for DNA diagnostics of Malaria, in terms of their sensitivity and specificity as diagnostic tests in detecting malarial infection among febrile illnesses, suspected of malaria, as well as to compare their cost-effectiveness. Methodology: Three seventy febrile cases suspected of malaria with negative results with RDT will be screened by real-time PCR and DNA microfluidics techniques, sensitivity and specificity of these as screening tests will be compared. The number of extra positive cases detected by NAT gives us the yield. Cost-effectiveness analysis will be done by calculating the incremental cost-effectiveness ratio (ICER) and average cost-effectiveness ratio (ACER) for the tests. Statistical Analysis: Statistical analysis will be done using SPSS version 21. Sensitivity, specificity, Positive predictive values will be computed. Comparison of sensitivity and specificity of NAT, a paper microfluidic technique for DNA diagnostics and RDT will be carried out using McNemar’s test. Receiver operating curves will be generated separately to assess the utility of the NAT. Conclusion: The Implications of this study from the patient's perspective would mean early diagnosis which forms the tenet of control of the disease by increasing the yield. Early diagnosis at the community level would translate into the application of efficient prevention mechanisms to spread the infection. The cost-effectiveness analysis would provide a scientific basis for the adoption of the best test for the diagnosis, given the economic feasibility of the study.

BACKGROUND India has plenty of sunshine, yet people here are deprived of vitamin D – ‘sunshine vitamin’. According to endocrine society of India, vitamin D levels of < 20 ng / mL is considered to be vitamin D deficiency. The objective of the study was to evaluate seasonal variation of vitamin D and give an insight on risk factors such as age, gender, diet, body mass index, occupation, skin complexion and body surface area exposure on vitamin D level. METHODS The study was conducted in a tertiary hospital in Mangalore on 109 apparently healthy individuals. The same cohort of subjects was followed for two seasons - summer and winter. Serum was collected and analysed for 25-OH vitamin D, calcium and phosphorous. Skin color was assessed according to the Fitzpatrick classification, questionnaire was given to assess the approximate time limit of sun exposure in a day along with the exposed areas to sunlight and anthropometric parameters such as height and weight were measured using standard guidelines. Body mass index (BMI) was calculated. Comparison of mean vitamin D along with the factors influencing them in both seasons was done using paired t test. Inferential statistical analysis was done using chi-square test. Pearson correlation test was also done. Statistical significance was considered at P < 0.05. RESULTS Mean vitamin D was higher in summer (15.14 ± 5.62) as compared to winter (14.42 ± 5.38) irrespective of the risk factors. Vitamin D deficiency was highest in older age group (83.9 %), females (84.6 %), overweight (100 %), vegetarians (92.3 %), office workers (91.2 %), both complexions and those exposed with < 1.5 hours of sunlight (97.2 %). Vitamin D deficiency was also more prevalent in those with lesser exposed body surface area. CONCLUSIONS Vitamin D deficiency was statistically most common in winter than summer. It was seen correlating with majority of the risk factors, except skin complexion and among the confounding factors. The key for vitamin D production in this population was maximum body surface area exposure (face, hand, leg and feet) to sunlight for more than 2.5 hours, yet these subjects were vitamin D deficient. However, they did not manifest with any skeletal or extra-skeletal morbidity. Thus, concluding that a reliable cut off value for reference range of vitamin D should be set in this population in order to abstain from excess vitamin D treatment. KEY WORDS Sunshine Vitamin, Vitamin D Deficiency, Mangalore, Skin Colour, Sunlight Exposure, Body Surface Area, Summer, Winter

As we live in a country with abundant sunshine the prevalence of this sunshine vitamin deficiency is around 70-100%. Minimum thirty minutes of UV B ray exposure causes the production of 600-1000IU of vitamin D in our body. The cut off values for 25-OH vitamin D deficiency is

Osteoporosis is a silent killer usually asymptomatic and noticed only after a fracture. Women irrespective of their origin and social strata show an accelerated phase of bone loss, for about 10 yrs after the cessation of ovarian function due to hormonal imbalance. Until now for the diagnosis of osteoporosis Bone mineral density (BMD) and DEXA was used, which is costly hence bone turns over markers have come to vogue in suggesting the risk of osteoporotic fractures. Objectives of the Study: To assess the potentiality of serum osteocalcin as a diagnostic tool for osteoporosis in post menopausal women and thus overcome the risk of fractures. Materials and Methods: This study was conducted on 50 apparently healthy pre menopausal women and 50 postmenopausal women with immediate fractures sustained as a result of trivial trauma. Results: The mean serum osteocalcin level was (2.63 ± 1.76) in the post menopausal women with fractures as compared to the pre menopausal women (5.55 ± 2.92) which was statistically significant. (p value Conclusion: Osteocalcin is a highly sensitive bone formation marker and can be used as a diagnostic or screening tool in post menopausal women for Osteoporosis. The decreased serum osteocalcin levels after menopause could hence predict and prevent the risk of fractures. Keywords: Osteocalcin, Pre-menopausal women, Postmenopausal women with fractures, Calcium, Phosphorous, Alkaline phosphatase, Total protein, Albumin and osteoporosis.

Introduction: The sirtuin (Silent mating type information regulation 2 homolog)1(SIRT1) protein plays a vital role in many disorders such as diabetes, cancer, obesity, inflammation, and neurodegenerative and cardiovascular diseases. The objective of this in silico analysis of SIRT1's functional single nucleotide polymorphisms (SNPs) was to gain valuable insight into the harmful effects of non-synonymous SNPs (nsSNPs) on the protein. The objective of the study was to use bioinformatics methods to investigate the genetic variations and modifications that may have an impact on the SIRT1 gene's expression and function. Methods: nsSNPs of SIRT1 protein were collected from the dbSNP site, from its three (3) different protein accession IDs. These were then fed to various bioinformatic tools such as SIFT, Provean, and I- Mutant to find the most deleterious ones. Functional and structural effects were examined using the HOPE server and I-Tasser. Gene interactions were predicted by STRING software. The SIFT, Provean, and I-Mutant tools detected the most deleterious three nsSNPs (rs769519031, rs778184510, and rs199983221). Results: Out of 252 nsSNPs, SIFT analysis showed that 94 were deleterious, Provean listed 76 dangerous, and I-Mutant found 66 nsSNPs resulting in lowered stability of proteins. HOPE modelling of rs199983221 and rs769519031 suggested reduced hydrophobicity due to Ile 4Thr and Ile223Ser resulting in decreased hydrophobic interactions. In contrast, on modelling rs778184510, the mutant protein had a higher hydrophobicity than the wild type. Conclusions: Our study reports that three nsSNPs (D357A, I223S, I4T) are the most damaging mutations of the SIRT1 gene. Mutations may result in altered protein structure and functions. Such altered protein may be the basis for various disorders. Our findings may be a crucial guide in establishing the pathogenesis of various disorders.

ABSTRACT Background: Menopause accelerates bone loss after 10 years of cessation of the menstrual cycle causing osteoporosis. Hip fractures among postmenopausal women escalate morbidity and mortality in these women. Objective: The study was done to evaluate the effect of duration of menopause on BTMs so that it could detect post-menopausal osteoporosis at the earliest and predict the fracture risk Materials and Methods: The study was conducted in a tertiary hospital in Mangalore on 100 postmenopausal women. The duration of menopause was divided into quartiles. Evaluation and correlation of serum osteocalcin, urinary hydroxyproline, BMI, calcium, phosphorous and alkaline phosphatase was done on the duration of menopause. The subjects comprised 50 osteoporotic and 50 non-osteoporotic post-menopausal women. Continuous variables were represented as median and interquartile ranges. Comparison between two groups was done using the Mann Whitney U test. Comparison between more than two groups was done using the Kruskal Wallis test. The correlation was done using spearman’s correlation test. Statistical significance was considered at p15 YSM. Conclusion: Osteocalcin levels plateaued after 8years of menopause and started decreasing after 15 YSM. Osteoporotic fractures were higher in more than 15 YSM and the osteocalcin level was 2.47 ng/ml in this quartile. There is no significant difference in osteocalcin levels in those with fractures, indicating no significance of screening for serum osteocalcin levels once the fractures have occurred. Hence concluding that the duration of menopause is the key indicator for osteoporosis and serum osteocalcin is a potent biomarker for detection of the risk of fracture. Monitoring of serum osteocalcin levels(

Introduction: Leptin is an adipokine hormone that regulates insulin sensitivity and lipid profile, which may contribute to complications like gestational diabetes.The goal of the study was to examine if there was a link between the leptin (LEP)/leptin receptor (LEPR) gene polymorphism and insulin resistance in pregnant women, and to determine the extent to which the leptin gene polymorphism could cause insulin resistance.. Methods: 208 pregnant women participated in this cross-sectional study of which 74 were insulin resistant cases and 134 were insulin sensitive controls. The study was carried out from December 2018 to December 2020 at a charitable hospital in Mangalore, Karnataka, India. Genotyping of leptin and its receptor gene were carried out using the Polymerase Chain Reaction- Restriction fragment Length Polymorphism (PCR-RFLP) method. Serum levels of leptin, insulin, and C peptide were assayed using Enzyme Linked Immuno Sorbent Assay (ELISA) and lipid profile by automated chemistry analyzer. Statistical analysis was carried out using SPSS 23. Results: Insignificant association was observed between leptin receptor gene polymorphisms and insulin resistance, and leptin gene and insulin resistant women. There was no significant difference in the serum leptin levels among the cases and control (61.62±29.23 and 59.88±22.25). However, fasting blood sugar, insulin, C peptide, Triglycerides (TG), and very low-density Lipoprotein (VLDL) levels were significantly higher in cases as compared to controls (p=0.0068, p Conclusion: No significant association was found between leptin and leptin receptor gene polymorphisms with insulin resistance in pregnancy. However, genotyping of these genes may be useful in predicting insulin resistance and gestational diabetes in pregnancy.

Background: Status of diabetes mellitus has changed in the recent years and now is one of the major cause for morbidity in young adults. Prediabetes is an intermediate stage of impaired glucose tolerance in the natural history of diabetes mellitus. Objectives: The present study aims to determine the prevalence of prediabetes in adults (age group 18-35 years) and to calculate the detailed risk score by using IDRS and correlate it with diabetic status. Methods Fasting plasma glucose was estimated by hexokinase method. Results: Prevalence of prediabetes was 2%. Based on IDRS scoring 40% of the subjects had low risk, 58 % of the subjects had moderate risk and 2% of the subjects had high risk of developing diabetes mellitus. Interpretation and conclusion: Screening for diabetes mellitus should be considered for individuals above 18 years for the presence of risk factors including family history of DM, physical activity and obesity using IDRS.

Introduction: Osteoporosis is a global health problem, asymptomatic and noticed only after a fracture. Ten years after the cessation of ovarian function due to hormonal imbalance, women show an accelerated phase of reduction in bone mass known as primary osteoporosis. Determination of Bone Mineral Density (BMD) and Dual Energy X-Ray Absorptiometry (DEXA) are the gold standard diagnostic approaches for osteoporosis. However, they are costly; hence Bone Turnover Markers (BTMs) have been suggested to detect the risk of osteoporotic fractures. Aim: To assess the potential of BTMs as a diagnostic tool for primary osteoporosis in order to reduce the associated morbidity and mortality. Materials and Methods: This study was conducted on 105 women who were divided into Group I with 35 pre-menopausal women, Group II with 35 post-menopausal women without fractures and Group III with 35 post-menopausal women with wrist, spine or hip fractures. Serum osteocalcin (OC), calcium, phosphate, alkaline phosphatase, total protein, albumin and 24 hour urinary hydroxyproline were estimated. Statistical analysis was done using Statistical Package for the Social Sciences (SPSS) Version 16.0. ANOVA test was done to compare variables among the groups. Tukey’s test was applied for intergroup comparison. Student’s t-test was used to compare two groups and correlation studies were done using Pearson’s correlation. Statistical significance was considered as p

Introduction: Diabetic patients have higher prevalence of thyroid disorders than the general population which may have an influence on diabetic management. The present study compared the levels of thyroid hormones, serum creatinine, glycated haemoglobin and urine microalbumin between type 2 diabetics without any complications, type 2 diabetics with nephropathy and age and sex matched normal controls. Result: The mean serum T3 level in type 2 diabetics without any complications was 91.27 ± 14.56 ng/dl , in type 2 diabetics with nephropathy was 88.5320 ± 30.87 ng/dl and in controls was 134.98 ± 28.55 ng/dl. The mean serum T4 level in type 2 diabetics without any complications was 7.73 ± 1.42 μg/dl, in type 2 diabetics with nephropathy was 7.25 ± 2.72 μg/dl and in controls was 8.61 ± 1.73 μg/dl. The mean serum TSH level in type 2 diabetics without any complications was 3.99 ± 1.87 μIU/ml, in type 2 diabetics with nephropathy was 4.27 ± 1.62 μIU/ml and in controls was 2.07 ± 1.09 μIU/ml. Correlations between T3, T4, TSH with serum creatinine, glycated haemoglobin were not statistically significant in type 2 diabetes without any complications and diabetic nephropathy. We found a statistically significant correlation between T3 and urine microalbumin in patients with diabetic nephropathy. Conclusion: Failure to recognize the presence of abnormal thyroid hormone levels may be a primary cause of poor management of diabetes mellitus type 2. Therefore there is a need for the routine assay of thyroid hormones in type 2 diabetics and diabetic nephropathy in order to improve the quality of life and reduce the morbidity.

Introduction: Sialic acid levels are increased in type-2 diabetes mellitus and its estimation helps in predicting the occurrence of microvascular complication such as diabetic nephropathy. The present study compared the levels of sialic acid, glycated haemoglobin, serum creatinine and urine microalbumin: in type-2 diabetics without any complications; in type-2 diabetics with nephropathy; and in age and sex matched healthy individual (controls). Results: The study observed an increased level of sialic acid in type-2 diabetics without any complications and type-2 diabetics with nephropathy. Serum sialic acid levels in type-2 diabetics without any complications was 64.44 ± 3.93 mg/dl, in type-2 diabetics with nephropathy was 73.88 ± 4.41 mg/dl, and in controls it was 53.16 ± 3.40 mg/dl. Urine sialic acid levels in type-2 diabetics without any complications was 6.62 ± 0.70 mg/dl, in type-2 diabetics with nephropathy was 8.46 ± 0.97 mg/dl, and in controls it was 4.44 ± 0.62 mg/dl. Correlation of sialic acid levels with glycated haemoglobin and urine microalbumin was statistically significant but with serum creatinine was not statistically significant. Conclusion: Sialic acid is an important component of vascular cell membrane. Their increased levels indicate extensive vascular damage in type-2 DM. Therefore, estimation of sialic acid levels help in early prediction and prevention of microvascular complications occurring due to diabetics, thereby decreasing the mortality and morbidity in them.