Molecular insights into the role of genetic determinants of congenital hypothyroidism

Kollati, Yedukondalu,Akella, Radha Rama Devi,Naushad, Shaik Mohammad,Patel, Rajesh K.,Reddy, G. Bhanuprakash,Dirisala, Vijaya R. Korea Genome Organization 2021 Genomics & informatics Vol.19 No.3

In our previous studies, we have demonstrated the association of certain variants of the thyroid-stimulating hormone receptor (TSHR), thyroid peroxidase (TPO), and thyroglobulin (TG) genes with congenital hypothyroidism. Herein, we explored the mechanistic basis for this association using different in silico tools. The mRNA 3'-untranslated region (3'-UTR) plays key roles in gene expression at the post-transcriptional level. In TSHR variants (rs2268477, rs7144481, and rs17630128), the binding affinity of microRNAs (miRs) (hsa-miR-154-5p, hsa-miR-376a-2-5p, hsa-miR-3935, hsa-miR-4280, and hsa-miR-6858-3p) to the 3'-UTR is disrupted, affecting post-transcriptional gene regulation. TPO and TG are the two key proteins necessary for the biosynthesis of thyroid hormones in the presence of iodide and H₂O₂. Reduced stability of these proteins leads to aberrant biosynthesis of thyroid hormones. Compared to the wild-type TPO protein, the p.S398T variant was found to exhibit less stability and significant rearrangements of intra-atomic bonds affecting the stoichiometry and substrate binding (binding energies, ΔG of wild-type vs. mutant: -15 vs. -13.8 kcal/mol; and dissociation constant, K_d of wild-type vs. mutant: 7.2E^-12 vs. 7.0E^-11 M). The missense mutations p.G653D and p.R1999W on the TG protein showed altered ΔG(0.24 kcal/mol and 0.79 kcal/mol, respectively). In conclusion, an in silico analysis of TSHR genetic variants in the 3'-UTR showed that they alter the binding affinities of different miRs. The TPO protein structure and mutant protein complex (p.S398T) are less stable, with potentially deleterious effects. A structural and energy analysis showed that TG mutations (p.G653D and p.R1999W) reduce the stability of the TG protein and affect its structure-functional relationship.

Validation of Neck Disability Index Severity among Patients Receiving One or Two-Level Anterior Cervical Surgery

Geoghegan Cara E.,Mohan Shruthi,Lynch Conor P.,Cha Elliot D. K.,Jacob Kevin C.,Patel Madhav R.,Prabhu Michael C.,Vanjani Nisheka N.,Pawlowski Hanna,Singh Kern 대한척추외과학회 2023 Asian Spine Journal Vol.17 No.1

Study Design: Retrospective cohort. Purpose: To evaluate the validity of established severity thresholds for Neck Disability Index (NDI) among patients undergoing anterior cervical discectomy and fusion (ACDF) or cervical disc arthroplasty (CDA). Overview of Literature: Few studies have examined the validity of established NDI threshold values among patients undergoing ACDF or CDA. Methods: A surgical database was reviewed to identify patients undergoing cervical spine procedures. Demographics, operative characteristics, comorbidities, NDI, Visual Analog Scale (VAS), and 12-item Short Form (SF-12) physical and mental composite scores (PCS and MCS) were recorded. NDI severity was categorized using previously established threshold values. Improvement from preoperative scores at each postoperative timepoint and convergent validity of NDI was evaluated. Discriminant validity of NDI was evaluated against VAS neck and arm and SF-12 PCS and MCS. Results: All 290 patients included in the study demonstrated significant improvements from baseline values for all patient-reported outcome measures (PROMs) at all postoperative timepoints (p<0.001) except SF-12 MCS at 2 years (p=0.393). NDI showed a moderate-to-strong correlation (r≥0.419) at most timepoints for VAS neck, VAS arm, SF-12 PCS, and SF-12 MCS (p<0.001, all). NDI severity categories demonstrated significant differences in mean VAS neck, VAS arm, SF-12 PCS, and SF-12 MCS at all timepoints (p<0.001, all). Differences between NDI severity groups were not uniform for all PROMs. VAS neck values demonstrated significant intergroup differences at most timepoints, whereas SF-12 MCS showed significantly different values between most severity groups. Conclusions: Neck disability is strongly correlated with neck and arm pain, physical function, and mental health and demonstrates worse outcomes with increasing severity. Previously established severity categories may be more applicable to pain than physical function or mental health and may be more uniformly applied preoperatively for cervical spine patients.

Technophobia : Star Wars, Star Trek, and Other Sites of Technocultural Anxiety

Patell, Cyrus R. K. 한국아메리카학회 2002 美國學論集 Vol.34 No.2

Preparation and characterization of highly conducting and transparent Al doped CdO thin films by pulsed laser deposition

R.K. Gupta,K. Ghosh,R. Patel,S.R. Mishra,P.K. Kahol 한국물리학회 2009 Current Applied Physics Vol.9 No.3

Highly conducting and transparent aluminum doped CdO thin films were deposited using pulsed laser deposition technique. The effect of growth temperature on structural, electrical, and optical properties was studied. It is observed that the film orientation changes from preferred (111) plane to (200) plane with increase in growth temperature. The electrical resistivity of the films was found to increase with increase in growth temperature. The low resistivity of 4.3 × 10-5 Ωcm and high transparency (~85%) was obtained for the film grown at 150 ℃. The band gap of the films varies from 2.74 eV to 2.84 eV.

Bioinert membranes prepared from amphiphilic poly(vinyl chloride)-g-poly(oxyethylene methacrylate) graft copolymers

Patel, R.,Patel, M.,Ahn, S.H.,Sung, Y.K.,Lee, H.K.,Kim, J.H.,Sung, J.S. Elsevier 2013 Materials science & engineering. C, Materials for Vol.33 No.3

Poly(vinyl chloride) (PVC) membrane was hydrophilically modified by grafting with poly(oxyethylene methacrylate) (POEM) using atom transfer radical polymerization (ATRP). The successful grafting of PVC main chain by POEM was characterized by Fourier transform infrared spectroscopy (FT-IR). The molecular weight and hydrophilicity of membranes increased with the amount of POEM grafting, as characterized by gel permeation chromatography (GPC) and contact angle measurement, respectively. Transmission electron microscope (TEM) and small angle X-ray scattering (SAXS) analysis revealed the microphase-separated structure of PVC-g-POEM and the domain spacing increased from 59.3 to 86.1nm with increasing grafting degree. Scanning electron microscopy (SEM) was used for the direct visualization of the mouse embryonic fibroblast (MEF) cell and bacteria adhesion on the membrane surface. Protein adsorption and eukaryotic and prokaryotic cell adhesion tests showed that the bioinert properties of membranes were significantly increased with POEM content.

Multi-Secondary Transformer: A Modeling Technique for Simulation - II

Patel, A.,Singh, N.P.,Gupta, L.N.,Raval, B.,Oza, K.,Thakar, A.,Parmar, D.,Dhola, H.,Dave, R.,Gupta, V.,Gajjar, S.,Patel, P.J.,Baruah, U.K. Journal of International Conference on Electrical 2014 Journal of international Conference on Electrical Vol.3 No.1

Power Transformers with more than one secondary winding are not uncommon in industrial applications. But new classes of applications where very large number of independent secondaries are used are becoming popular in controlled converters for medium and high voltage applications. Cascade H-bridge medium voltage drives and Pulse Step Modulation (PSM) based high voltage power supplies are such applications. Regulated high voltage power supplies (Fig. 1) with 35-100 kV, 5-10 MW output range with very fast dynamics (${\mu}S$ order) uses such transformers. Such power supplies are widely used in fusion research. Here series connection of isolated voltage sources with conventional switching semiconductor devices is achieved by large number of separate transformers or by single unit of multi-secondary transformer. Naturally, a transformer having numbers of secondary windings (~40) on single core is the preferred solution due to space and cost considerations. For design and simulation analysis of such a power supply, the model of a multi-secondary transformer poses special problem to any circuit analysis software as many simulation softwares provide transformer models with limited number (3-6) of secondary windings. Multi-Secondary transformer models with 3 different schemes are available. A comparison of test results from a practical Multi-secondary transformer with a simulation model using magnetic component is found to describe the behavior closer to observed test results. Earlier models assumed magnetising inductance in a linear loss less core model although in actual it is saturable core made-up of CRGO steel laminations. This article discusses a more detailed representation of flux coupled magnetic model with saturable core properties to simulate actual transformers very close to its observed parameters in test and actual usage.

Rapid Prediction of Deflections in Multi-span Continuous Composite Bridges using Neural Networks

R. K. Gupta,Sushil Kumar,K. A. Patel,Sandeep Chaudhary,A.K. Nagpal 한국강구조학회 2015 International Journal of Steel Structures Vol.15 No.4

This paper proposes closed form expressions for the rapid prediction of deflections in steel-concrete composite bridges of large number of spans subjected to service load. The proposed expressions take into account shear lag effect, flexibility of shear connectors and cracking in concrete slabs. Three separate neural networks have been developed for right exterior span, left exterior span and interior spans. The closed form expressions have been obtained from the neural networks developed in the study. The training, validating and testing data sets for the neural networks are generated using finite element software ABAQUS. The proposed expressions have been validated for number of bridges and the errors are found to be small for practical purposes. Sensitivity studies have been carried out using the proposed expressions to evaluate the suitability of input parameters. The use of the proposed expressions requires a computational effort that is fraction of that required for the finite element analysis, therefore, can be used for rapid prediction of deflection for everyday design.

Neutral beam injector system for Steady State Tokamak -1

S. K. Mattoo,A.K. Chakraborty,B. Prajapati,BVSNNP Sridhar,C. Rotti,Ch. Chakrapani,G. Patel,M. Bandyopadhyay,M.J. Singh,M.R. Jana,N.P. Singh,P. Bharati,P.J. Patel,P.K. Jayakumar,R. Onali,S. Ramababu,S. 한국물리학회 2006 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.49 No.III

This paper discusses the experimental results obtained from the various components developed for a 1.7 MW neutral beam injector (NBI). Several technologies related to fabrication of back plate, extractor grids, high-current filament feedthru’s, heat-transfer elements, ceramic insulators, cryopumps, rectangular vessels and power supplies have been developed in collaboration with the Indian industry. Control experiments on the prototype plasma box are described.

Birth of a healthy infant after bone marrow-derived cell therapy

Nayana H Patel,Yuvraj D Jadeja,Niket H Patel,Molina N Patel,Harsha K Bhadarka,Piyush N Chudasama,Harmi R Thakkar 대한생식의학회 2021 Clinical and Experimental Reproductive Medicine Vol.48 No.3

Bone marrow-derived cell (BMDC) therapy has numerous applications as potential biological cells for use in regenerative medicine. Here, we present an original case of endometrial atrophy associated with genital tuberculosis in a woman who achieved a live birth with BMDC. This 27-year-old woman came to our center with endometrial atrophy and primary infertility. She had a past history of genital tuberculosis and amenorrhea. Her husband’s semen quality was normal. The patient was counseled for hysteroscopy due to thin endometrium and advised in vitro fertilization (IVF) with donor eggs in lieu of poor ovarian reserve. Several attempts of IVF with hormone replacement therapy (HRT) were made, but the desired thickness of the endometrium was not achieved. Uterine artery injection of BMDC through interventional radiology was given, followed by HRT for three months, which resulted in improved endometrium. This was subsequently followed by IVF with donor egg. The treatment resulted in the conception and delivery of a 3.1-kg baby boy through lower segment caesarean section with no antenatal, intranatal or postnatal complications. Recently, there has been massive interest in stem cells as a novel treatment method for regenerative medicine, and more specifically for the regeneration of human endometrium disorders like Asherman syndrome and thin endometrium, which was the reason behind using this strategy for treatment.

Floral Biology and Flowering Phenology of Jatropha Curcas

Singh, Amritpal S.,Patel, Mukesh P.,Patel, Tanmay K.,Delvadia, D.R.,Patel, Diwaker R.,Kumar, Nitish,Naraynan, Subhash,Fougat, Ranbir S. Institute of Forest Science 2010 Journal of Forest Science Vol.26 No.2

Jatropha curcas is an oil bearing species with multiple uses and considerable economic potential as a biofuel plant. Plant flowering and breeding characteristics are important for us to understand the reproduction of plant populations. The present study describes the floral biology and flowering phenology of J. curcas which is a prerequisite for hybridization program for genetic improvement through conventional breeding. The plant produces flowers in dichasial inflorescences. Normally, the flowers are unisexual, and male and female flowers are produced in the same inflorescence. Only a few male flowers are produced in an inflorescence, and fruits are produced only through pollination between different flowers from the same or different plants. This study includes a description of the inflorescence, flower anatomy of both male and female flowers, female : male ratio, pollen : ovule ratio, flowering phenology, pollen viability, stigma receptivity, comparison of selfing methods and a comparison of geitonogamy and xenogamy. This information may be useful in J. curcas breeding programmes.