Our results indicated a higher risk of T2D and DR in the background of ADIPOQ TT genotype. Further, the ADIPOQ g. + 45 T > G and TNF-α g. - 308 G > A polymorphisms jointly give 1.45-fold risk towards T2D.

Geographic and ethnic differences impart an immense influence on the genetic susceptibility to Type 2 diabetes (T2D) and diabetic nephropathy (DN). Transforming growth factor-beta1 (TGF-b1), a ubiquitously expressed pro-fibrotic cytokine plays a pivotal role in mediating the hypertrophic and fibrotic manifestations of DN. The present study is aimed to study the association of TGF-b1 g.869T > C (rs1800470) and g.-509C > T (rs1800469) polymorphism in T2D and end stage renal disease (ESRD) cases from the two geographically and ethnically different populations from North India. A total of 1313 samples comprising 776 samples from Punjab (204 with ESRD, 257 without ESRD, and 315 healthy controls) and 537 samples from Jammu and Kashmir (150 with ESRD, 187 without ESRD, and 200 controls) were genotyped for TGF-b1 (rs1800470 and rs1800469) using ARMS-PCR. The CC genotype of rs1800470 increased ESRD risk by 3.1-4.5-fold in both populations. However, for rs1800469, the TT genotype provided 5.5-fold risk towards ESRD cases from Jammu and Kashmir and no risk for the cases from Punjab. The haplotype C-T conferred nearly a 2-3-fold risk towards T2D and ESRD and diplotype CC-CT conferred a 4-fold risk towards ESRD. Our results conclude that TGF-b1 (rs1800470) may increase the risk of both ESRD and T2D in both populations, but TGF-b1 (rs1800469) provided risk for only ESRD in the population of Jammu and Kashmir. The present study is one of the large sample sized genetic association studies of T2D and ESRD from Indian population and adds to the scholarship on global health omics.

Genetic contributions towards Type 2 diabetes (T2D) have been assessed through association studies across different world populations with inconsistencies. The majority of the T2D susceptibility loci are common across different races or populations but show ethnicity-specific differences. The pathogenesis of T2D involves genetic variants in the candidate genes. The interactions between the genes involved in insulin signaling and secretory pathways are believed to play an important role in determining an individual's susceptibility towards T2D. Therefore, the present study was initiated to examine the differences, if any, in the contribution of polymorphisms towards T2D susceptibility in the background of different ethnic specifications. The present case-control study included a total of 1216 T2D cases and healthy controls from three ethnic groups (Jat Sikhs, Banias and Brahmins) of North-West India. Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. The genotyping was done using PCR-RFLP method. Statistical analysis was done using SPSS 16.0. The analyses revealed that INS (rs689) polymorphism conferred risk towards T2D susceptibility in all the three ethnic groups whereas INSR (rs1799816) polymorphism conferred risk towards T2D in Brahmins only and PP1G.G (rs1799999) polymorphism indicated T2D risk in Jat Sikhs only. Furthermore, interaction analyses indicated the cumulative role of three genetic variants in modulating T2D susceptibility in the three ethnic groups. In conclusion, our results substantiated the evidences for the role of ethnicity in differential susceptibility to T2D in the background of same genetic variants.

Type 2 diabetes (T2D) and its secondary complications result from the complex interplay of genetic and environmental factors. To understand the role of these factors on disease susceptibility, the present study was conducted to assess the association of eNOS and MCP-1 variants with T2D and diabetic nephropathy (DN) in two ethnically and geographically different cohorts from North India. A total of 1313 subjects from two cohorts were genotyped for eNOS (rs2070744, rs869109213 and rs1799983) and MCP-1 (rs1024611 and rs3917887) variants. Cohort-I (Punjab) comprised 461 T2D cases (204 T2D with DN and 257 T2D without DN) and 315 healthy controls. Cohort-II (Jammu and Kashmir) included 337 T2D (150 T2D with DN and 187 T2D without DN) and 200 controls. Allele, genotype and haplotype frequencies were compared among the studied participants, and phenotype–genotype interactions were determined. Meta-analysis was performed to investigate the association between the selected variants and disease susceptibility. All three eNOS variants were associated with 1.5–4.0-fold risk of DN in both cohorts. MCP-1 rs1024611 conferred twofold risk towards DN progression in cohort-II, while rs3917887 provided twofold risk for both T2D and DN in both cohorts . eNOS and MCP-1 haplotypes conferred risk for T2D and DN susceptibility. Phenotype–genotype interactions showed significant associations between the studied variants and anthropometric and biochemical parameters. In meta-analysis, all eNOS variants conferred risk towards DN progression, whereas no significant association was observed for MCP-1 rs1024611. We show evidences for an association of eNOS and MCP-1 variants with T2D and DN susceptibility. Supplementary Information The online version contains supplementary material available at 10.1007/s10528-021-10041-2.

Summary While conducting a study to observe bone marrow cytomorphological changes in multi bacillary leprosy, lipid laden macrophages as seen in sphingolipi doses were noted. The present study was planned to observe the occurrence and morphological characterization of these macrophages in various types of leprosy. Bone marrow records from 48 cases of paucibacillary and 72 cases of multibacill ary leprosy were analysed. The macrophages accounting at the most for 3·5% of marrow cells were observed in 5 cases of paucibacillary and 43 cases of multi bacillary leprosy with a maximum incidence being observed in patients with ENL (16/17). The lipid present in the cytoplasm of these cells could be derived from the lipid of the cell wall of My cobacterium leprae. To the best of our knowledge, these cells have not been reported in leprosy so fa r.

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Abstract. Macular hole (MH) is a defect of the neuroretina in the foveal central, which may result in the inadequacy of high acuity vision or in complete vision loss [1]. Traumatic macular hole (TMH) is the second most common cause of MH globally. TMH is defined as the hole in the macular region of the retina caused by the mechanical stress or hitting by an object [2]. Knapp and this team described the very first case of TMH in 1869 [3]. Commonly, the MH can be closed by using internal limiting membrane (ILM) peel with gas or air tamponade [4]; inverted ILM flap technique [5]; or autologous ILM flap6. However, these techniques are not suitable for closing the large MH. The success of Autologous Neurosensory Retina Transplantation (ANRT) by Grewal and Mahmoud (2016) has opened the new ventures for treating complicated MH [7]. In the present case report, we used the technique proposed by Grewal and Mahmoud with some intraoperative variables to treat a traumatic MH [7,8].

Diabetic nephropathy (DN) is a major cause of renal failure globally including chronic kidney disease and end-stage renal disease (ESRD). Using comprehensive linkage disequilibrium mapping, we genotyped five polymorphisms from engulfment and cell motility 1 (ELMO1) gene (rs741301, rs7799004, rs1882080, rs11769038 and rs1345365) to evaluate its association with DN. BMI was observed to be low in DN cases as compared to the control groups, which is the result of haemodialysis and high doses of medication. Physical inactivity, lipid profile, urea and creatinine were observed to be the confounding factors correlated with DN. This study comprehensively evaluated ELMO1 in DN patients, T2D without Nephropathy and healthy controls from North Indian population and revealed significant association with DN. Haplotypes G-G-C-C and G-A-T-T provided ~2-fold risk towards DN development. In conclusion, the present study suggests the significant role of ELMO1 gene polymorphisms in the pathophysiology of DN in North-Indian population.