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Background: It is necessary to identify human individuals for personal, social, and legal reasons. The use of conventional methods such as use of fingerprints and lip prints is of paramount importance since personal identification by other means such as DNA analysis is sophisticated and not available in rural areas and developing countries. Lip Prints are the Wrinkles and grooves imprints visible on the lips They have been named by Tsuchihashi as 'Sulci labiorum rubrorum'. 19 major groups have been identified in humans by Karl Landsteiner (1971). Among these only "ABO" and "Rhesus" groups are used most of the time. Studies of the association between lip prints, blood groups and gender are scanty in the literature. There are other reference data available on various forms of personal identification such as fingerprints, lip prints, etc. which are of paramount importance. Aim and Objectives: The present study aims to determine and investigate the percentage distribution and the association of lip print, right and left thumbprints, blood groups, and gender among the north Indian population. Materials and Methods: For the study, we enrolled 200 north Indian students aged between 18 years to 25 years as a subject after obtaining ethical clearance from the ethical committee. Written informed consent was obtained from the study subjects. A single calibrated trained interviewer described the purpose and process of the study to the participants and recorded lip print, thumbprint, and blood groups. The examination was done on a simple chair and in abundant daylight conditions. Results: Among the total of 200 north Indian students aged between 18 years to 25 years, lip print in various quadrants was compared with gender, blood groups, and thumbprints were compared, and interpretation was made. Conclusion: The present study concluded that the Reticular pattern was the most predominant lip print pattern followed by Intersected and Branched Patterns in both genders. B+ve blood group was predominant among subjects. Loop pattern was the most predominant thumbprint. There was a significant correlation between left and right thumbprints. The present study did not show any statistical correlation of lip print pattern with gender (P value 0.65), thumbprint pattern (P value 0.56), and ABO blood groups (P value 0.841). [ABSTRACT FROM AUTHOR]

X‐linked retinoschisis (XLR) is a rare medical condition that involves in the splitting of neurosensory layers and the impairment of vision in the retina. In majority of the XLR cases, pathogenic variants in Retinoschisin 1 (RS1) gene have been implicated in males with an early age of onset during early childhood. In the present study, we have recruited two North Indian families having multiple affected male members, who were diagnosed with XLR. The entire protein‐coding region of RS1 was screened by PCR‐Sanger sequencing and two recurrent pathogenic variants (p.I81N and p.R102Q) were unraveled. The in vitro study of these variants demonstrated the aggregation of mutant RS1 within the endoplasmic reticulum. Furthermore, mutant forms of this protein showed significant intracellular retention, which was evident by the absence of retinoschisin protein fractions in the extracellular media. These inferences were also supported by extensive bioinformatics analysis of the mutants, which showed dramatic conformational changes in the local structure of retinoschisin. Thus, our study suggests that the identified pathogenic variants interfere with proper protein folding, leading to anomalous structural changes ultimately resulting in intracellular retention of retinoschisin within the retina. [ABSTRACT FROM AUTHOR]

Diabetic nephropathy (DN) is specified by microalbuminuria, glomerular lesions, and renal fibrosis leading to end-stage renal disease. The pathophysiology of DN is multifactorial as a result of gene–environment interaction. Clinical studies suggested that gene mutations affect various pathways involved in DN, including extracellular matrix (ECM). During chronic hyperglycemia, collagen type-4-mediated ECM overproduction occurs, leading to renal fibrosis and DN development. In this study, COL4A1 gene variant rs605143 (G/A) was analyzed in diabetes and DN patients from the study population. We genotyped 386 study subjects, comprising 120 type 2 diabetes mellitus (T2DM) patients, 120 DN, and 146 healthy controls. All study subjects were analyzed for biochemical assays by commercially available kits and genotypic analysis by polymerase chain reaction–restriction fragment length polymorphism and confirmed by Sanger sequencing. Statistical analyses were done using SPSS and GraphPad. Anthroclinicopathological parameters showed a significant association between T2DM and DN. Genotype AA of COL4A1 gene variant rs605143 (G/A) showed a significant association with T2DM and DN compared with controls with 5.87- and 8.01-folds risk, respectively. Mutant allele A also significantly associated with T2DM and DN independently compared with healthy controls with 2.29- and 2.81-time risk in the study population. This study's findings suggested that COL4A1 gene variant rs605143 (G/A) can be used as predictive biomarkers for T2DM and DN independently. However, this gene variant needs to be analyzed in a large sample to explore the shared genetic association between T2DM and DN. [ABSTRACT FROM AUTHOR]

Background: Lumbar disc prolapse is one of the causes of low back pain. The inner segment of the intervertebral disc bulges into and ruptures through the outer segment of the disc into the spinal canal. The disc prolapse starts as a result of lumbar disc degeneration which is an age related process influenced by mechanical and genetic factors. The present study aimed to find the association of disc prolapse with obesity, one of the risk factor, in the north Indian population. Methods: A total of 200 subjects (100 cases and 100 controls) were finally selected for this study. All the subjects were from north India. The cases were patients who came to Rama Medical College Hospital and Research Centre with complaint of low back pain and diagnosis of lumbar disc prolapse was confirmed by MRI and clinical examination. The controls were volunteers from the general population. Odds ratios with 95% confidence intervals were calculated using unconditional logistic regression analysis. Results: The risk of disc prolapse increased with the increase in weight in both sexes. In female subjects, the risk of lumbar disc prolapse increased with the increase in BMI. The highest risk of lumbar disc prolapse in male subjects was seen in overweight subjects (BMI 25-30 kg/m2) but declined with further increase in BMI. Conclusion: The present study found direct association between obesity and the lumbar disc prolapse in the north Indian population.

Introduction and objectives: The human external ear has intricate anatomy due to the presence of elevated and depressed structures which form the morphological characteristics of the external ear. It has been observed that they have some form of interdependence. Therefore, the present study is aimed to investigate the association amongst the morphological characteristics of the external ear and its feasibility for forensic identification. Material and methods: A cross-sectional sample of 497 participants (233 males and 264 females) aged 18–35 years (24.42 ± 5.17) was taken for the study. The data was collected from the district Solan of Himachal Pradesh, North India. Both the ears of the participants were examined for various morphological characteristics. The shape of the external ear, the contour shape of the supero-anterior, superior and supero-posterior helix, and other morphological characteristics were analyzed and classified based on the shape, rolling, contour shape, the strength of the elevated structures, and other factors. The associations between the morphological characteristics were investigated using chi-square and correspondence analysis, while Cramer’s V test was used to determine the strength of the association. Results: A total number of 33 morphological characteristics were considered for the present study. Each morphological characteristic was compared with the other 32 parameters. Therefore, a total number of 1056 (33 ×32) pairs were examined, with only 587 pairs showing a statistically significant association. The shape of the external ear, for example, has a significant association with 25 out of 32 morphological characteristics, including rolling of the superior and posterior helix, the contour shape of the supero-anterior, superior, supero-posterior helix, etc. Moreover, all the statistically significant pairs were subjected to correspondence analysis to evaluate the measure of their association. Wide rolled superior helix, for example, is closely associated with a round-shaped external ear, implying that if a person has a wide rolled superior helix, he or she is more likely to have a round-shaped external ear. Conclusion: The present study has explored and developed the database of the association of the morphological characteristics of the external ear. The database may be useful in predicting the shape and size of the external ear from some of these characteristics. The findings could be utilized during facial reconstruction in forensic examinations and the reconstruction of deformed ears. This study, therefore, finds that the morphological features of the ear are an important addition to the arsenal of the forensic investigator.

The cephalometric norms for orthognathic surgery (COGS analysis) are the standard benchmark in cephalometrics for any orthognathic surgical diagnosis and treatment planning. Since the introduction of cephalometrics by Broadbent, numerous studies have been conducted to establish craniofacial norms of different ethnicities. Most of these studies, however, determined craniofacial norms for Caucasian people and may not be applicable to other ethnic groups due to differences in their facial appearance. Therefore, it is essential to study and compare the existing cephalometric parameters between Caucasians and Indians to validate their application during the treatment planning of the orthognathic surgery. This review focuses on studying the cephalometric norms for the North Indian (NI) population and establishing the COGS analysis for the population of North India. The objective is to determine the cephalometric parameters of Angle's dental and skeletal Class I faces for the NI population. The following databases were searched for the present study -PubMed, Ovid MEDLINE, and EMBASE. The initial inclusion criteria comprised studies written in English and quoting cephalometric norms in Indian population. The time period of publications was not determined. The quality features evaluated were sample description, variables analyzed, and how cephalometric standards were evaluated. Initially, 49 articles were retrieved. After removal of the duplicated records and assessing for the eligibility, four articles met the inclusion criteria. These four articles were included in the systematic review. The NI people are characterized by having small cranial base, short facial height, protrusive chin, and more inclination of mandibular incisors in comparison with Caucasians. Due to limited research on the Central Indian cephalometric norms, the Caucasian norms are still referred for the diagnosis and treatment planning of orthognathic surgery for NI population. [ABSTRACT FROM AUTHOR]

Chronic myeloid leukaemia is a clonal disorder arising from hematopoietic stem cell, affecting all the lineage of haematopoietic stem cells. The average age of affection in chronic myeloid leukaemia is 60 to 65 years and is extremely rare in childhood comprising 3% of paediatric leukaemia. An institution-based study to reveal the statistics of paediatric chronic myeloid leukaemia patients in a tertiary health care centre of North India serving mainly an economically under privileged population belonging to minority groups.

Abstract Background Variants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell proliferation/senescence in RGCs, the degeneration of which is a risk factor for glaucoma. CDKN2B-AS1 codes a long non-coding RNA in antisense direction and is involved in influencing nearby CDKN2A/CDKN2B via regulatory mechanisms. Methods Current study investigated four SNPs (rs2157719, rs3217992, rs4977756, rs1063192) of aforementioned genes in a case–control study in a North Indian cohort. Genotyping was done with Taqman chemistry. In addition, an updated meta-analysis was performed. Results Two SNPs, rs3217992 and rs2157719 were found to be significantly associated with the disease. The frequency of ‘T’ allele of rs3217992 was significantly lower in cases (POAG/PACG) [p = 0.045; OR = 0.80(CI = 0.65–0.99) and p = 0.024; OR = 0.73(CI = 0.55–0.96)], respectively than in controls. Genetic model analysis revealed that TT + CT genotype confers 0.73-fold protection against POAG [p = 0.047; OR = 0.73(CI = 0.54–0.99)] and trend assumed additive model gives 0.53 times higher protection against PACG progression. However the association of rs3217992 with POAG and PACG did not remain significant after Bonferroni correction. For rs2157719, the ‘C’ allele was found to be less prevalent among cases (POAG/PACG) with respect to controls. Cochran Armitage trend test assuming additive model revealed 0.77 and 0.64-fold protection against POAG and PACG respectively. Bonferroni correction (p corr = 0.003) was applied and the association of rs2157719 remained significant in PACG cases but not among POAG cases (p = 0.024). The ‘CC’ genotype also confers protection against primary glaucoma (POAG/PACG) among males and female subjects. The frequency rs1063192 and rs4977756 did not vary significantly among subjects, however the haplotype ‘CATA’ was found to be associated with increased glaucoma risk. An updated meta-analysis conducted on pooled studies on POAG cases and controls revealed significant association between rs1063192, rs2157719, rs4977756 and POAG except rs3217992. Conclusion The study concludes significant association between INK4 variants and primary glaucoma in the targeted North Indian Punjabi cohort. We believe that deep-sequencing of INK4 locus may help in identifying novel variants modifying susceptibility to glaucoma. Functional studies can further delineate the role of CDKN2B and CDKN2B-AS1 in primary glaucoma for therapeutic intervention.

Introduction: Cleft lip and palate (CLP) is a common congenital anomaly characterized by incomplete fusion of the lip and/or palate during embryonic development. The etiology of CLP is multifactorial, involving genetics and different environmental factors. The methylenetetrahydrofolate reductase ( MTHFR ) gene has been proposed as a candidate gene associated with CLP due to its involvement in folate metabolism and DNA methylation processes. However, the association between MTHFR gene variants and CLP in non-syndromic patients in the North Indian population remains unclear., Aim and Objectives: This research aimed to see the association between MTHFR gene polymorphisms in non-syndromic patients with CLP in the North Indian population., Materials and Method: A case-control observational design comprised 50 CLP patients (cases) and 50 healthy individuals without CLP (controls). Blood samples were collected from patients visiting two hospitals. Genomic DNA was extracted from collected peripheral blood samples, and the genotyping of MTHFR gene polymorphisms (specifically, C677T) was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The allelic and genotypic frequencies of MTHFR gene variants were compared between cases and controls using appropriate statistical tests., Result: This research revealed a significant association between MTHFR gene polymorphism and CLP in the North Indian population. The odds for the genotypes reach statistical significance, suggesting that the MTHFR gene variant may play a major role in this population's susceptibility to non-syndromic CLP., Conclusion: This study provides evidence for a linkage between the MTHFR gene C677T polymorphism and an increased risk of CLP in non-syndromic patients in the North Indian population. These findings do support the involvement of MTHFR gene variants in the etiology of CLP. In the future, more research is warranted to elucidate the underlying mechanisms linking MTHFR gene variants to CLP and to explore potential gene-environment interactions in this context., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. The Institutional Ethics Committee of King George's Medical University, Lucknow, UP, issued approval 110 ECM II A/P10. The Institutional Ethics Committee in its meeting held on 4th December 2021 has reviewed and discussed your clarification vide letter no. 1109 dated 1st November 2021 to conduct the research proposal entitled "Association of genetic variations of the TGF alpha and MTHFR genes with non-syndromic cleft lip with or without cleft palate in North Indian population" submitted by you. EC Decision: Approved, Dr. Shally Awasthi, Member Secretary IEC, dated 22/12/21, no. 1851/Ethics/2021. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Yadav et al.)

Introduction: Adequate knowledge of the anatomic variation and root canal morphology is paramount for long term endodontic success. The presence of two canals in Mesiobuccal (MB) root is commonly associated with maxillary molars in various populations. Aim: To retrospectively evaluate the prevalence of a second mesiobuccal canal (MB 2) canal in maxillary first and second molars in Delhi-National Capital Region (NCR) population using Cone Beam Computed Tomography (CBCT) analysis. Materials and Methods: This retrospective study evaluated the records of complete maxillary CBCT scans of 204 maxillary first and second molars from January 2016 till May 2019 from different CBCT centres in Delhi-NCR region to determine the anatomy and morphology in June 2019. The prevalence of second MB 2 canals was recorded and correlated with age, gender and symmetry. The z-test for proportions was used to assess the differences among the subgroups. Results: The number of roots in 204 teeth in both maxillary molars was determined. The prevalence of 3-rooted configuration was 98.55% in maxillary first molars and 79.4% in maxillary 2nd molars. Also, in maxillary second molars, 7.4% were single rooted and 13.2% had 2 rooted configuration. Three rooted configuration and variable canal number was commonly reported in maxillary molars. Prevalence of MB 2 canal was 87.2% in maxillary 1st molars and 64.2% in maxillary 2nd molars. Also, the prevalence was 87.2% bilaterally in maxillary first molars and 65.7% on the right and 53.9% on the left in maxillary second molars respectively. Type IV canal configuration was most prevalent in 44.60% of maxillary first molars and type 1 configuration (35.78%) for the maxillary second molars. Conclusion: Prevalence of MB 2 canals in maxillary first and second molars was found to be high in North Indian population and the clinician should suspect its presence in all cases. Prevalence of MB 2 had bilaterally symmetrical distribution without any association with age or gender. MB roots were more likely to exhibit type IV and type II canal configurations in maxillary first molars and type I and type II configurations in second molars. [ABSTRACT FROM AUTHOR]

Age estimation is a vital part in many of forensic investigations, be it for the dead or living. Despite its importance, accuracy of age estimation has always been an issue in legal matters, especially in the adult population. This study has been conducted on a North Indian adult population, furthering the research on formulated odonto-metric indices and their variation among the population, with the aim of establishing their suitability for estimation of age in the population under study. The two methods employed on first and second molars were tooth coronal index (TCI) and pulp chamber tooth height ratio (PCTHR). Of the two teeth, the second molar was found to have a significant correlation compared with the other one and the TCI was found to be marginally better than PCTHR when applied on second molars. The error ranges for TCI (first molar and second molar) and PCTHR (second molar) methods were found to be same, i.e. ±7 years. The choice of an age-group specific method is important for the most accurate and reliable dental age estimations in forensic contexts. [ABSTRACT FROM AUTHOR]

Introduction: Adequate knowledge of the anatomic variation and root canal morphology is paramount for long term endodontic success. The presence of two canals in Mesiobuccal (MB) root is commonly associated with maxillary molars in various populations. Aim: To retrospectively evaluate the prevalence of a second mesiobuccal canal (MB2) in maxillary first and second molars in Delhi-National Capital Region (NCR) population using Cone Beam Computed Tomography (CBCT) analysis. Materials and Methods: This retrospective study evaluated the records of complete maxillary CBCT scans of 204 maxillary first and second molars from January 2016 till May 2019 from different CBCT centres in Delhi-NCR region to determine the anatomy and morphology in June 2019. The prevalence of second MB2 canals was recorded and associated with age, gender and symmetry. The z-test for proportions was used to assess the differences among the subgroups. Results: The number of roots in 204 teeth in both maxillary molars were determined. The prevalence of 3-rooted configuration was 98.55% in maxillary first molars and 79.4% in maxillary 2nd molars. Also, in maxillary 2nd molars, 7.4% were single rooted and 13.2% had 2-rooted configuration. Three rooted configuration and variable canal number was commonly reported in maxillary molars. Prevalence of MB2 canal was 87.2% in maxillary 1st molars and 64.2% in maxillary 2nd molars. Also, the prevalence was 87.2% bilaterally in maxillary first molars and 65.7% on the right and 53.9% on the left in maxillary second molars respectively. Type IV canal configuration was most prevalent in 44.60% of maxillary first molars and type 1 configuration (35.78%) for the maxillary second molars. Conclusion: Prevalence of MB2 canals in maxillary first and second molars was found to be high in North Indian population and the clinician should suspect its presence in all cases. Prevalence of MB2 had bilaterally symmetrical distribution without any association with age or gender. The MB roots were more likely to exhibit type IV and type II canal configurations in maxillary first molars and type I and type II configurations in second molars.

Chronic myeloid leukaemia is a clonal disorder arising from hematopoietic stem cell, affecting all the lineage of haematopoietic stem cells. The average age of affection in chronic myeloid leukemia is 60 to 65 years and is extremely rare in childhood comprising 3% of paediatric leukaemia. An institution-based study was carried out to reveal the statistics of pediatric chronic myeloid leukaemia patients in a tertiary health care centre of North India serving mainly the economically under privileged population belonging to minority groups. [ABSTRACT FROM AUTHOR]

Background: Variants in CDKN2B/CDKN2B-AS1 have been reported to modulate glaucoma risk in several GWAS across different populations. CDKN2B/CDKN2A encodes tumor suppressor proteins p16INK4A/p15INK4B which influences cell proliferation/senescence in RGCs, the degeneration of which is a risk factor for glaucoma. CDKN2B-AS1 codes a long non-coding RNA in antisense direction and is involved in influencing nearby CDKN2A/CDKN2B via regulatory mechanisms. Methods: Current study investigated four SNPs (rs2157719, rs3217992, rs4977756, rs1063192) of aforementioned genes in a case–control study in a North Indian cohort. Genotyping was done with Taqman chemistry. In addition, an updated meta-analysis was performed. Results: Two SNPs, rs3217992 and rs2157719 were found to be significantly associated with the disease. The frequency of 'T' allele of rs3217992 was significantly lower in cases (POAG/PACG) [p = 0.045; OR = 0.80(CI = 0.65–0.99) and p = 0.024; OR = 0.73(CI = 0.55–0.96)], respectively than in controls. Genetic model analysis revealed that TT + CT genotype confers 0.73-fold protection against POAG [p = 0.047; OR = 0.73(CI = 0.54–0.99)] and trend assumed additive model gives 0.53 times higher protection against PACG progression. However the association of rs3217992 with POAG and PACG did not remain significant after Bonferroni correction. For rs2157719, the 'C' allele was found to be less prevalent among cases (POAG/PACG) with respect to controls. Cochran Armitage trend test assuming additive model revealed 0.77 and 0.64-fold protection against POAG and PACG respectively. Bonferroni correction (pcorr = 0.003) was applied and the association of rs2157719 remained significant in PACG cases but not among POAG cases (p = 0.024). The 'CC' genotype also confers protection against primary glaucoma (POAG/PACG) among males and female subjects. The frequency rs1063192 and rs4977756 did not vary significantly among subjects, however the haplotype 'CATA' was found to be associated with increased glaucoma risk. An updated meta-analysis conducted on pooled studies on POAG cases and controls revealed significant association between rs1063192, rs2157719, rs4977756 and POAG except rs3217992. Conclusion: The study concludes significant association between INK4 variants and primary glaucoma in the targeted North Indian Punjabi cohort. We believe that deep-sequencing of INK4 locus may help in identifying novel variants modifying susceptibility to glaucoma. Functional studies can further delineate the role of CDKN2B and CDKN2B-AS1 in primary glaucoma for therapeutic intervention. [ABSTRACT FROM AUTHOR]

Abstract Many studies conducted worldwide substantiate a role of genetic polymorphisms in non-coding regions linked with coronary artery disease (CAD). One such single nucleotide polymorphism (SNP) of a non-coding RNA in the INK4 locus (ANRIL) i.e. rs1333049 C/G in the vicinity of cell cycle regulating genes is documented to have a role in CAD risk. In this study we aimed to determine the association of ANRIL rs1333049 C/G with CAD in a North Indian population. Five hundred disease free controls and 500 CAD patients were genotyped using allele specific ARMS-PCR method. High risk association of rs1333049 was seen in both heterozygous and mutant genotypes (OR=2.883, 95% CI=1.475-5.638 and p=0.002 and OR=6.717, 95% CI=3.444-13.102 and p < 0.001 respectively). Gender stratified analysis revealed risk association in both heterozygous and mutant genotypes in males. However, risk association in the mutant genotype and females was documented. Similarly, risk association was seen in subjects above 40 years of age in heterozygous and mutant genotypes. Similarly, risk association was reported in obese, sedentary lifestyle, positive family history and smoking in the heterozygous and mutant genotype and with diabetes in the mutant GG genotype. The study revealed high risk association of ANRIL rs1333049 with CAD and other risk factors.

Background: Coronary artery disease (CAD) is major cause of death and morbidity worldwide. Arachidonate 12/15-lipoxygenase (ALOX) is a member of the lipid peroxidizing enzyme family and implicated in the pathogenesis of atherosclerosis, but with contradicting results. Aim: The present study aimed to investigate the association of two polymorphisms in ALOX15 (rs2619112 and rs7217186) and the risk of CAD in North Indian population. Methods: A total of 500 angiographically confirmed CAD patients and 500 control subjects of North Indian population were recruited in the case-control study and genotyped by PCR-RFLP. Results: The data showed a significant association between the two polymorphisms and CAD. Multiple logistic regression revealed heterozygous genotype of both the polymorphisms viz. GA of rs2619112 and CT of rs7217186 to be associated with significant high risk of CAD after adjustment for confounders (p = 0.034, OR = 2.274, 95% CI (1.062–4.870) and p = 0.000, OR = 3.407, 95% CI (2.092–5.548) respectively). Stratified analysis based on gender showed GA and AA of rs2619112 each significantly increased the risk of CAD in females (p = 0.001, OR = 13.120, CI = 2.780–61.928; p = 0.028, OR = 5.393, CI = 1.196–24.316 respectively) whereas only GA increased CAD risk in males (p = 0.005, OR = 2.277, CI = 1.290–4.020). In case of rs7217186, CT and TT showed a significant high risk of CAD in males (p = 0.000, OR = 4.048, CI = 2.678–6.119; p = 0.000, OR = 2.861, CI = 1.928–4.245). Conclusion: The present study shows that rs7217186:C > T and rs2619112:G > A of ALOX15 are associated with increased risk of CAD in the North Indian population.

Smoking is the introduction of toxic substances into the body. Smokers inhaled hazardous compounds that are injurious to health. Currently, smoking is a global threat to public health, mainly in developing countries like India. The present study aimed to investigate the status and correlation of malondialdehyde (MDA) and superoxide dismutase (SOD) in smokers of North Indian population. In this case, a total of 60 subjects (30 smokers and 30 age-matched healthy non-smokers) were enrolled from in and around areas of Lucknow. The level of MDA and SOD activity were estimated in all subjects. For statistical analysis, student’s t-test was performed between smokers and non-smokers. Pearson correlation coefficients were calculated among smokers. P value < 0.05 was considered statistically significant. The mean level of MDA was found significantly high in smokers as compared to non-smokers (P<0.001). The mean of SOD activity was found significantly low in smokers as compared to non-smokers (P<0.001). MDA and SOD have shown a significantly negative correlation among smokers (r= -0.47, P<0.001). Results showed that the smoking habit is the sole reasons for the oxidative stress in smokers. Raised level of MDA and declined SOD are the potential risk factors for chronic diseases. Cessation of smoking is required to reduce the burden of life-threaten chronic diseases. [ABSTRACT FROM AUTHOR]

Background: Human leukocyte antigen (HLA)-G antigens are inducible non-classical major histocompatibility complex class Ib molecules which play an important role in the regulation of inflammatory processes and immunomodulation in autoimmune diseases. There are controversial reports on the impact of HLA-G gene polymorphisms on rheumatoid arthritis (RA). This study aimed at examining the impact of 14 base pair (bp) ins/del (rs66554220) and +3142G>C (rs1063320) polymorphisms and correlating these with soluble HLA-G (sHLA-G) levels to understand the susceptibility to RA in our sample cohort. Methods: Genomic DNA from 140 RA patients and 125 healthy controls was isolated using the salting out method. The genotyping of two polymorphisms of HLA-G (+3142G>C and 14 bp ins/del) was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and PCR method, respectively. Levels of sHLA-G were estimated by ELISA and disease activity was calculated by disease activity score (DAS28-ESR). Results: The HLA-G +3142G>C polymorphism was found to be associated with a decreased risk of RA as attributed to recessive inheritance tested model results (OR = 0.4, 95%C.I. = 0.2–0.9, p =.0313*, GG + GC versus CC). Our finding did not support an association between HLA-G 14 bp ins/del variant and risk/protection of RA. The sHLA-G levels were significantly lower in +3142GG and +3142GC RA patients as compared to healthy controls. Conclusion: HLA-G +3142G>C gene polymorphism might decrease the risk of occurrence of RA in our sample cohort as +3142CC genotype is associated with increased sHLA-G levels. Abbreviations: HLA-G: human leukocyte antigen-G; RA: rheumatoid arthritis; MHC: major histocompatibility complex; UTR: untranslated region; URR: upstream regulatory region; SLE: systemic lupus erythematous; PCR-RFLP: polymerase chain reaction restriction fragment length polymorphism; sHLA-G: soluble HLA-G; bp: base pair; ACR/EULAR: American College of Rheumatology/European League against Rheumatism; RF: rheumatoid factor; Anti-CCP: anti-cyclic citrullinated peptide; DAS28-ESR: Disease Activity Score 28- Erythrocyte Sedimentation Rate; TJC: tender joint count; SJC: swollen joint count; ESR: erythrocyte sedimentation rate; PGA: patient global assessment; HTN: hypertension; DM: diabetes mellitus; TB: tuberculosis; IEC: Institute Ethics Committee; ELISA: enzyme linked immunosorbent assay; ROC: receiver operating characteristics; AUC: area under curve; SNP: single nucleotide polymorphism; MTX: methotrexate; DMARDs: disease modifying anti-rheumatic drugs; Treg: regulatory T cells; IL: interleukin Units: soluble HLA-G: Units/mL {U/mL} [ABSTRACT FROM AUTHOR]

Aims: Myocardial bridging is a common coronary anomaly characterized by the presence of a muscle bridge above an epicardial artery. It might be involved in development of several cardiovascular pathologies. The detailed anatomical study is required to help in diagnosing the myocardial bridging which has been dealt in the present study. Materials & Methods: The present study was carried out on thirty formalin-fixed adult hearts obtained after dissection of cadavers. The hearts were dissected to expose the coronary vessels. Presence of myocardial bridging was noted, photographed and recorded. Results: Myocardial bridges were found in 22 hearts, in at least one coronary artery or in one of its significant branches. Left coronary artery (LCA) was involved more than the right coronary artery (RCA). Left anterior descending artery showed maximum myocardial bridges which was most commonly seen in the middle third. Conclusion:The present study describes the morphological characteristics of the myocardial bridges in Indian cadavers which may serve as a reference for clinicians in conditions pertaining to heart.

Background The present study aimed to evaluate the predictive utility of the C-reactive protein (CRP)/albumin (CRP/Alb) ratio in predicting outcomes of acute pancreatitis in Indian patients. Methods This prospective observational study included 150 patients admitted within 24 hours of symptom onset. Serum CRP and albumin levels were measured to calculate the CRP/Alb ratio. Atlanta criteria classified severity as mild, moderate, or severe. The primary outcome was persistent organ failure. Results The mean age was 45±15 years, and 63% were males. The median C-reactive protein was 120 mg/L, Alb 3.2 g/dL, and CRP/Alb ratio 0.28. Severe acute pancreatitis patients (n = 50) had higher CRP/Alb ratios than mild cases (0.45 vs. 0.20, p<0.001). At a cut-off of 0.25, the CRP/Alb ratio demonstrated 85% sensitivity, 80% specificity, and an AUROC of 0.82 for predicting organ failure. This was significantly higher than the CRP (area under the receiver operating characteristic (AUROC) curve 0.72, p = 0.03) and Ranson score (AUROC 0.76, p = 0.04). On multivariate regression, CRP/Alb ratio >0.25 independently predicted severe acute pancreatitis after adjusting for age, gender, and CT severity index (adjusted OR 5.2, 95% CI 2.8-9.6). Conclusion The CRP/Alb ratio calculated within 24 hours reliably predicts persistent organ dysfunction in Indian acute pancreatitis patients. Incorporating this inexpensive biomarker into clinical prediction tools could significantly improve early risk stratification and streamline healthcare delivery in resource-limited settings., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, M et al.)

Establishing the identity of the deceased is the most important task for forensic anthropologists in forensic case-work involving unidentified human remains. In such cases, forensic anthropologists examine the remains to derive the biological profile of the deceased i.e. estimation of age, sex, stature, and ethnicity to narrow down the search of the missing. Dismembered remains are recovered in mass disasters such as train mishaps, airplane crashes, earthquakes, and terrorists' attacks or in homicidal cases where perpetrator intentionally mutilates the dead body to conceal the identity of the victim. Stature estimation is considered as one of the most important tasks when a mutilated foot is recovered in process of narrowing down the pool of possible suspects/victims. Allometry is the underlying principle for estimation of stature from foot dimensions. It has been learnt from the published literature that multiple regression models including more than one factor enhances the estimation accuracies. Among the various foot dimensions, foot length is the most frequent parameter used in the estimation of stature in forensic literature. In the present study, an attempt has been made to standardize the stature estimation models from various possible combinations of foot dimensions. For this purpose, 388 Jatt Sikh males aged between 18 and 30 years were recruited from various villages of Ludhiana district of Punjab State in Northern India. Stature, five foot length measurements, and two foot breadth measurements were taken on each subject. Linear and multiple regression models were derived for the estimation of stature from various foot measurements. The highest coefficient of determination and estimation accuracy (the least standard error of estimation S.E.E) was observed from T1 (R2 = 0.397, S.E.E = 4.7109) when a single foot dimension was included in the model, (R2 = 0.416, S.E.E = 4.6425) from (T1, T3) when two-foot lengths were taken, (R2 = 0.418, S.E.E = 4.6426) from (T1, T3, T4) when three-foot lengths were included, (R2 = 0.418, S.E.E = 4.6473) from (T1, T3, T4, T5) when four-foot lengths were included, and (R2 = 0.418, S.E.E = 4.6531) when all the five foot lengths (T1, T2, T3, T4, T5) were included in the regression model. It has been concluded that multiple regression models provide more accurate results than linear regression models. However, inclusion of a factor having a weak correlation with stature in the regression model, decreases the accuracy of the model. [ABSTRACT FROM AUTHOR]

CAD (Coronary Artery Disease) morbidity is becoming an endemic worldwide. Recently, the role of pro- and anti-inflammatory cytokines in the development of atherosclerotic plaques has been explored, but the association of their genetic polymorphisms and CAD has yet not been established. The present study aimed to investigate the association of IL-8-251A/T (rs4073) and IL-10 -592C/A (rs1800872) polymorphisms and the risk of CAD in North Indian population. 1000 subjects (500 angiographically confirmed CAD patients and 500 controls) were genotyped by ARMS-PCR. Results revealed a significant risk association of both the polymorphisms with CAD. The heterozygous and the mutant genotypes of IL-8 rs4073 were both found to be associated with the risk of disease after adjusting for the confounders (padj < 0.001, ORadj 3.121, 95% CI 1.926-5.056 and padj < 0.001, ORadj 3.116, 95% CI 1.952-4.973, respectively), but only the mutant AA genotype of IL-10 rs1800872 correlated with risk of disease with padj < 0.001, ORadj 4.106, 95% CI 2.160-7.806). Stratifying the samples on the basis of gender revealed CAD in heterozygous and mutant in males (padj < 0.001, ORadj 3.693, 95% CI 2.031-6.716; padj < 0.001, ORadj 3.288, 95% CI 1.848-5.851, respectively) and only the mutant to be associated with risk of disease in females (padj = 0.010, ORadj 2.867, 95% CI 1.284-6.404) for IL-8 rs4073, whereas only the mutant genotype AA of IL-10 rs1800872 associated with CAD risk in males (padj < 0.001, ORadj 5.821, 95% CI 2.831-11.970). Stratified analysis based on age showed a significant higher risk in the heterozygous and mutant genotype in subjects below 40 years of age (padj = 0.039, ORadj 5.052, 95% CI 1.081-23.602; and padj = 0.025, ORadj 5.533, 95% CI 1.239-24.704, respectively) compared with the heterozygous and mutant genotype association of the risk of disease in subjects above 40 years of age (padj < 0.000, ORadj 2.964, 95% CI 1.747-5.027; and padj < 0.000, ORadj 2.859, 95% CI 1.716-4.762, respectively) in IL-8 rs4073. For IL-10 rs1800872, risk association was seen only in subjects above 40 years of age (padj < 0.001, ORadj 5.049, and 95% CI 2.414-10.561). The present study exhibited associations of IL-8-251A/T (rs4073) and IL-10 -592C/A (rs1800872) with CAD in the North Indian population and also that the associations are gender and age dependent. [ABSTRACT FROM AUTHOR]

There is a drastic increase in the number of people suffering from coronary artery disease (CAD) worldwide with Indians being no exception. Being a developing country and experiencing a dramatic shift in lifestyle and eating habits, urbanization and industrialization, all these factors have collectively predisposed the Indian population towards CAD and the prevalence data are quite alarming. Genetic studies have disclosed the role of genes in CAD susceptibility and severity. One such gene is proprotein convertase subtilisin/kexin type 9 (PCSK9) which is sought to modulate the cholesterol levels and hence, has implications in CAD. We aim to explore the association of PCSK9 A/G (rs505151) polymorphism and hence, the susceptibility towards CAD in the north Indian population. Five-hundred angiographically confirmed CAD patients and 500 healthy individuals as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism. Statistical analysis revealed a significant association with the G allele with odds ratio (OR)=1.50, 95% confidence interval (CI)=1.22-1.85 and P=0.000. Also, a strong association was observed for CAD risk with OR=1.590, 95% CI=1.106-2.284 and P=0.012. However, the homozygous GG mutant genotype was found to be completely absent from our population. Analysis of the dominant model also revealed an association with CAD risk. Our work demonstrated for the first time the association of PCSK9 A/G (rs505151) polymorphism with CAD risk in the north Indian population. [ABSTRACT FROM AUTHOR]

Global gene expression profiling is a powerful tool enabling the understanding of pathophysiology and subsequent management of diseases. This study aims to explore functionally annotated differentially expressed genes (DEGs); their biological processes for coronary artery disease (CAD) and its different severities of atherosclerotic lesions. This study also aims to identify the change in expression patterns of DEGs in atherosclerotic lesions of single-vessel disease (SVD) and triple-vessel disease (TVD). The weight of different severities of lesion was estimated using a modified Gensini score. The gene expression profiling was performed using the Affymetrix microarray platform. The functional annotation for CAD was performed using DAVID v6.8. The biological network gene ontology tool (BiNGO) and ClueGO were used to explore the biological processes of functionally annotated genes of CAD. The changes in gene expression from SVD to TVD were determined by evaluating the fold change. Functionally annotated genes were found in an unique set and could be distinguishing two distinct severities of CAD. The biological processes such as cellular migration, locomotion, cell adhesion, cytokine production, positive regulation of cell death etc. enriched the functionally annotated genes in SVD, whereas, wound healing, negative regulation of cell death, blood coagulation, angiogenesis and fibrinolysis were enriched significantly in TVD patients. The genes THBS1 and CAPN10 were functionally annotated for CAD in both SVD and TVD. The 61 DEGs were identified, those have changes their expression with different severities of atherosclerotic lesions, in which 13 genes had more than two-fold change in expression between SVD and TVD. The consistent findings were obtained on validation of microarray gene expression of selected 10 genes in a separate cohort using real-time PCR. This study identified putative candidate genes and their biological processes predisposing toward and affecting the severity of CAD. [ABSTRACT FROM AUTHOR]

Background: Coronary artery disease (CAD) is major cause of death and morbidity worldwide. Arachidonate 12/15-lipoxygenase (ALOX) is a member of the lipid peroxidizing enzyme family and implicated in the pathogenesis of atherosclerosis, but with contradicting results. Aim: The present study aimed to investigate the association of two polymorphisms in ALOX15 (rs2619112 and rs7217186) and the risk of CAD in North Indian population. Methods: A total of 500 angiographically confirmed CAD patients and 500 control subjects of North Indian population were recruited in the case-control study and genotyped by PCR-RFLP. Results: The data showed a significant association between the two polymorphisms and CAD. Multiple logistic regression revealed heterozygous genotype of both the polymorphisms viz. GA of rs2619112 and CT of rs7217186 to be associated with significant high risk of CAD after adjustment for confounders (p = 0.034, OR = 2.274, 95% CI (1.062-4.870) and p = 0.000, OR = 3.407, 95% CI (2.092-5.548) respectively). Stratified analysis based on gender showed GA and AA of rs2619112 each significantly increased the risk of CAD in females (p = 0.001, OR = 13.120, CI = 2.780-61.928; p = 0.028, OR = 5.393, CI = 1.196-24.316 respectively) whereas only GA increased CAD risk in males (p = 0.005, OR = 2.277, CI = 1.290-4.020). In case of rs7217186, CT and TT showed a significant high risk of CAD in males (p = 0.000, OR = 4.048, CI = 2.678-6.119; p = 0.000, OR = 2.861, CI = 1.928-4.245). Conclusion: The present study shows that rs7217186:C > T and rs2619112:G > A of ALOX15 are associated with increased risk of CAD in the North Indian population. [ABSTRACT FROM AUTHOR]

Aims: Lipoprotein (a) [Lp(a)] levels have shown wide ethnic variations. Sparse data on mean Lp(a) levels, its link with clinical variables and severity of coronary artery disease (CAD) in North Indian population needed further studies. Methods: 150 patients, each of single vessel disease (SVD), double vessel disease (DVD) and triple vessel disease (TVD) with 150 healthy controls were drawn for the study. Serum Lp(a) estimation was performed by immunoturbidimetric method. Results: Lp(a) had a skewed distribution. Median Lp(a) level was significantly raised in cases as compared to controls (median 30.30 vs. 20 mg/dl, p

Introduction: Mixed dentition regression equations analyses (Moyers, Tanaka-Johnston) are based on European population , reliability of these methods is questionable over other population. Materials and Methods: The present study was conducted on total 260 study models. This study was done in two phases. In the first phase, linear regression equations were made. In the second phase, comparison of actual values of sum of mesiodistal width of canine, first and second premolars with the predicted values proposed by Moyers, Tanaka-Johnston, and the new proposed mixed dentition analysis for North Indian population were made. Results: Set of four linear regression equations for predicting sum of mesiodistal width of permanent canine, first premolar and second premolar in North Indian population from sum of mesiodistal width of mandibular incisors and mandibular first molars, were proposed as ; (a) for males, maxillary arch, Y = 2.9 + 0.40X, (b) mandibular arch Y = 3.91 + 0.37X (c) for females, maxillary arch Y = 0.56 + 0.45X (d) mandibular arch Y = 1.14 + 0.42X. Moyers and Tanaka-Johnston, mixed dentition analysis , is found to be overestimating the mesiodistal width of unerupted canine and premolars in North Indian population.

This study investigated the role of IL-1β-511 (rs16944), TLR4-896 (rs4986790) and TNF-α-308 (rs1800629) polymorphisms in type 2 diabetes mellitus (T2DM) among an endogamous Northern Indian population. Four hundred fourteen participants (204 T2DM patients and 210 nondiabetic controls) were genotyped for IL-1β-511, TLR4-896 and TNF-α-308 loci. The C allele of IL-1β-511 was shown to increase T2DM susceptibility by 75% (OR: 1.75 [CI 1.32-2.33]). Having two parents affected by T2DM increased susceptibility by 5.7 times (OR: 5.693 [CI 1.431-22.648]). In this study, we have demonstrated a conclusive association with IL-1β-511 locus and IL-1β-511-TLR4-896 diplotype (CC-AA) and T2DM, which warrants further comprehensive analyses in larger cohorts. [ABSTRACT FROM AUTHOR]