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Quasi-elastic (QEL) scattering measurements have been performed using a 28Si projectile off a 90Zr target at energies around the Coulomb barrier. A Bayesian analysis within the framework of coupled channels (CC) calculations is performed in a large parameter space of quadrupole and hexadecapole deformations (β2 and β4) of 28Si. Our results unambiguously show that 28Si is an oblate shaped nucleus with β2=-0.38±0.01 which is in excellent agreement with results from electromagnetic probes. The sign and magnitude of quadrupole deformation along with a precise value of hexadecapole deformation (β4=+0.03±0.01) of 28Si have been determined for the first time using QEL scattering. A remarkable agreement is obtained between the experimental and calculated β4 values of 28Si based on Skyrme-Hartree-Fock method. The present results demonstrate the strong sensitivity of the quasi-elastic scattering to the sign and magnitude to the ground state deformation parameters, thus affirming its suitability to be used for rare exotic nuclei using low intensity RIBs.

Background: Nephrotic syndrome appears as a group of symptoms like proteinuria, edema and hyperlipidemia. Identification of monogenic forms revealed the physiology and pathogenesis of the SRNS., Methods and Results: We performed Illumina panel sequencing of seven genes in 90 Indian patients to determine the role of these genetic mutations in nephrotic syndrome prognosis. Samtool was used for variants calling, and SnpEff and Snpsift did variants annotation. Clinical significance and variant classification were performed by the ClinVar database. In SSNS and SRNS patients, we found 0.78% pathogenic and 3.41% likely pathogenic mutations. Pathogenic mutations were found in LAMB2, LMX1B and WT1 genes, while likely pathogenic mutations were found in (6/13) LAMB2, (2/13) LMX1B, (2/13) TRPC6, (2/13) PTPRO and (1/13) PMM2 genes. Approximately 46% likely pathogenic mutations were contributed to the LAMB2 gene in SSNS and SRNS patients. We also detect 30 VUS (variants of uncertain significance), which were found (17/30) pathogenic and (13/30) likely pathogenic by different prediction tools., Conclusions: Multigene panels were used for genetic screening of heterogeneous disorders like nephrotic syndrome in the Indian population. We found pathogenic, likely pathogenic and certain VUS, which were responsible for the pathogenesis of the disease. Therefore, mutational analysis of SSNS and SRNS is necessary to avoid adverse effects of corticosteroids, modify the intensity of immunosuppressing agents, and prevent the disease's progression., (© 2021. The Author(s), under exclusive licence to Springer Nature B.V.)

Nephrotic syndrome (NS) is the common glomerular disease in children. These children are treated with steroids, depending upon their behavior. They are either steroid sensitive (SSNS) or steroid resistant (SRNS). NPHS2 gene mutants are linked to the risk of autosomal recessive SRNS and in some cases to SSNS. The present study has been performed to screen single nucleotide polymorphisms (SNPs) of the NPHS2 gene in a group of 90 Indian children suffering with NS (30 SSNS, 30 SRNS and 30 Controls) by PCR method followed by direct exon sequencing. Effect of SNPs on fold expression changes at transcript level of podocin was checked using quantitative real time PCR (qRT-PCR). SNPs identified through sequencing helps to carry out in-silico analysis. Overall 17 SNPs were identified in NPHS2 gene where 6 were found novel. Three missense SNPs p.R299Q, p.P20L and p.G35D were also identified in this population where SNP, p.G35D was found novel. In addition to sequencing analysis, results of in silico analysis shows that a mutant with these three missense SNPs has least ligand binding efficiency compared to native model. Moreover the significant observation of this study included two intronic SNPs c.451+23C>T and c.451+58A>T present in SRNS group of patients. These SNPs has shown high level of clinical significance within genomic and allelic frequency along with haplotypes and linkage disequilibrium count. The qRT-PCR analysis shows, down expression of podocin protein at transcript level in SRNS patients compared to SSNS patients. All these results support the fact that SNPs present in this population could affect the protein structural stability. Thus it is concluded that the polymorphisms predicted in this study might be disease causing in the NPHS2 gene and may have influence on the therapeutic response of NS patients., (Copyright © 2017 Elsevier B.V. All rights reserved.)

The aim of the present study is to identify functional non-synonymous SNPs of TRPC6 gene using various in silico approaches. These SNPs are believed to have a direct impact on protein stability through conformation changes. Transient receptor potential cation channel-6 (TRPC6) is one of the proteins that plays a key role causing focal segmental glomerulosclerosis (FSGS) associated with the steroid-resistant nephritic syndrome (SRNS). Data of TRPC6 was collected from dbSNP and further used to investigate a damaging effect using SIFT, PolyPhen, PROVEAN, and PANTHER. The comparative analysis predicted that two functional SNPs "rs35857503 at position N157T and rs36111323 at position A404V" showed a damaging effect (score of 0.096-1.00).We modeled the 3D structure of TRPC6 using a SWISS-MODEL workspace and validated it via PROCHECK to get a Ramachandran plot (83.0% residues in the most favored region, 12.7% in additionally allowed regions, 2.3% in a generously allowed region and 2.0% were in a disallowed region). QMEAN (0.311) and MUSTER (10.06) scores were under acceptable limits. Putative functional SNPs that may possibly undergo post-translation modifications were also identified in TRPC6 protein. It was found that mutation at N157T can lead to alteration in glycation whereas mutation at A404V was present at a ligand binding site. Additionally, I-Mutant showed a decrease in stability for these nsSNPs upon mutation, thus suggesting that the N157T and A404V variants of TRPC6 could directly or indirectly destabilize the amino acid interactions causing functional deviations of protein to some extent., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Background and Purpose: Renal calculous disease may be associated with various degrees of renal insufficiency secondary to a combination of obstruction, urinary infection, frequent surgical intervention, and coexisting medical disease. Herein, we present our data on the progression of renal function in patients with stones associated with renal insufficiency and assess the significance of various factors that could predict postoperative renal function deterioration., Patients and Methods: Data were obtained from 4400 patients undergoing treatment for calculous disease at our institute since 1991. Renal insufficiency, defined as a baseline serum creatinine >1.5 mg/dL, was present in 84 (1.9%). Predictive factors evaluated for renal function deterioration were preoperative (age, duration of symptomatology and nephrolithiasis, urinary tract infection, coexistent medical diseases, baseline serum creatinine, and stone burden), intraoperative (number of percutaneous tracts), and postoperative (recurrent infection, proteinuria, cortical atrophy, residual fragments, and stone recurrence)., Results: Over a mean follow-up of 2.2 years (range 6 months-6 years), 33 patients (39.3%) showed improvement, 24 (28.6%) showed stabilization, and 27 (32.1%) showed deterioration in their renal function. Higher baseline serum creatinine, proteinuria >300 mg/day, renal cortical atrophy, stone burden >1500 mm(2), recurrent urinary infection, and age <15 years were significant predictors of subsequent renal function deterioration., Conclusions: Patients with nephrolithiasis and mild to moderate renal insufficiency warrant aggressive treatment aimed at complete stone clearance and prevention of recurrence of stones and urinary infection. A higher baseline preoperative serum creatinine, proteinuria >300 mg/day on follow-up, renal cortical atrophy, stone burden >1500 mm(2), recurrent urinary infection, and age <15 years are associated with a significantly higher likelihood of renal function deterioration after treatment of the calculous disease.