Publications by authors named "Vanita"

Aim: This review explores the increasing prevalence of Type 2 Diabetes Mellitus (T2DM) in children and adolescents, focusing on its etiology, risk factors, complications, and the importance of early detection and management. It also highlights the need for a multidisciplinary, family-centered approach in managing T2DM in pediatric populations, with an emphasis on nutrition, exercise, and lifestyle interventions.

Materials And Methods: A literature review was conducted using PubMed, Google Scholar, and Scopus to incorporate studies from 2015 to 2024 on T2DM in youths/adolescents/children, focusing on epidemiology, risk factors, and prevention strategies.

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Background: To identify the underlying genetic defects in autosomal dominant (ADCC) and autosomal recessive (ARCC) congenital cataract families from North India.

Methods: Detailed family histories were collected, pedigrees drawn followed by slit-lamp examination and lens photography. Mutation screening was performed using Sanger sequencing in the known candidate genes for crystallins, connexins, and membrane proteins.

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Congenital cataract an opacity of the eye lens is present at birth and results in visual impairment during early childhood. If left untreated, it can lead to permanent blindness. Its prevalence is ten times higher in developing countries like India.

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Article Synopsis
  • Diabetes mellitus is a complex and rapidly growing disease, projected to affect 783 million adults by 2045, with serious complications impacting overall health and quality of life.
  • The disease has notable genetic, epigenetic, and environmental factors, and while genetic studies have identified variants linked to diabetes, these only account for a small portion of its heritability.
  • The review highlights the need to explore "missing heritability" through uncommon genetic variants, gene-environment interactions, and epigenetics, discussing their implications for diabetes management and future research.
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Objective: This study aimed at identifying the underlying genetic defect in a consanguineous autosomal recessive retinitis pigmentosa (arRP) (RP-1175) family having RP with early macular degeneration, cataract, and myopia.

Methods: Whole-exome sequencing (WES) was performed on the DNA of the proband, and variants observed were validated in the rest of the affected and unaffected family members by Sanger sequencing. Different bioinformatics tools were applied to access the pathogenicity of the observed variant.

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With the current global projection of over 130 million electric vehicles (EVs), there soon will be a need for battery waste management. Especially for all-solid-state lithium-ion batteries (lithium ASSBs), aspects of waste management and circular economy have not been addressed so far. Within such ASSBs, the use of solid-electrolytes like garnet-type Li La Zr Ta O (LLZTO) may shift focus on strategies to recover not only the transition metal elements but also elements like La/Zr/Ta.

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Aims: The study aims to detect the underlying genetic defect in two autosomal dominant congenital cataract (ADCC) families.

Methods: A detailed family history was collected, pedigrees were drawn, and slit-lamp examination and lens photography were performed. Mutation screening was carried out in the genes for crystallins and connexins by PCR and Sanger sequencing.

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We have developed a new naphthalimide-based amphiphile (YN-1) for the simultaneous detection of ATP and CTP. In YN-1, the cationic tyrosine-linked polyamine (+2 charge, hydrophilic unit) is appended at the - position of naphthalimide (hydrophobic unit). YN-1 and its Boc-protected compound 4 were characterized using state-of-the-art spectroscopic and optical techniques such as NMR, IR, UV-vis and fluorescence.

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In this study we present gas-phase fluorination as a method to create a thin LiF layer on LiLaZrTaO (LLZTO). We compared these fluorinated films with LiF films produced by RF-magnetron sputtering, where we investigated the interface between the LLZTO and the deposited LiF showing no formation of a reaction layer. Furthermore, we investigated the ability of this LiF layer as a protection layer against LiCO formation in ambient air.

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Splicing disruption is one type of mutation mechanism for disease-predisposing alleles. To date, less than 30 mutations in TTC8/BBS8 have been reported; however, mutations affecting the splice site are rare. Generally missense mutations are assumed to alter protein function; however, reports have shown that mutations in protein coding exons can disrupt splicing by altering exonic splicing silencer or enhancer motifs.

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Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-onset cataract, glaucoma, and keratopathy. The latter three are reasons for further visual compromise in such patients.

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Posterior reversible encephalopathy syndrome (PRES) is a disorder of reversible subcortical vasogenic brain oedema in patients with acute neurological symptoms. Drug-induced PRES has been described with the usage of drugs that target receptors regulating vascular permeability or altering immune response. Lenvatinib is a receptor tyrosine kinase inhibitor that inhibits the kinase activities of vascular endothelial growth factor receptors implicated in cancer progression in addition to their normal cellular functions.

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Composite electrolytes comprising a polymer plus Li salt matrix and embedded fillers have the potential of realizing high lithium-ion conductivity, good mechanical properties, wide electrochemical operational window, and stability against metallic lithium, all of which are essential for the development of high-energy-density all-solid-state lithium-ion batteries. In this study, a solvent-free approach has been used to prepare composite electrolytes with tetragonal and cubic phase garnets synthesized nebulized spray pyrolysis with polyethylene oxide (PEO) being the polymer component. Electrochemical impedance spectroscopy (EIS) is used to examine a series of composites with different garnets and weight fractions.

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Objectives: Our aim in this study was to determine the association of erythropoietin (EPO) gene polymorphisms with diabetic retinopathy in patients with type 2 diabetes from northern India.

Methods: In this case-control study, we recruited 614 participants, consisting of 302 diabetic retinopathy cases and 312 individuals with confirmed type 2 diabetes without retinopathy as controls. EPO polymorphism analysis was performed in all participants using polymerase chain reaction and direct DNA sequence analysis.

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Objective: Juvenile granulosa cell tumor(JGCT) is an uncommon ovarian sex-cord stromal tumor, with diverse clinical, radiological and histopathologic features. The present study describes the clinicopathological and histomorphological spectrum of JGCTs, and highlights the key differentiating features from its mimics.

Methods: A retrospective analysis of all cases reported as JGCTs during 2011-19 (8 years) was performed with detailed evaluation of clinical, histopathologic data and follow-up details.

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Background: To identify the underlying genetic defect in a fourth-generation autosomal recessive retinitis pigmentosa (arRP) family. Detailed family history and clinical data were collected from nine members, including three affected, from an arRP family.

Methods: Whole-exome sequencing (WES) was performed on DNA sample of an affected individual IV: 2.

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The present study entails the toxicity evaluation of 7-methyl xanthine (7-MX), first of its kind molecule found effective in phase II clinical trials for the treatment of myopia, in comparison to other clinically used xanthines i.e., caffeine and theobromine.

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Background: Tumor Necrosis Factor-alpha (TNF-α) a pleuripotent pro-inflammatory cytokine, is involved in retinal ganglion cells apoptosis in glaucoma. Thus present study aimed to analyze the association of TNF-α promoter region alterations (c.-238G>A (rs361525), c.

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Objective: To identify the underlying genetic defect of childhood-onset severe rod-cone dystrophy (RCD) in a consanguineous family from North India with autosomal recessive retinitis pigmentosa.

Methods: A detailed family history, clinical data, and blood samples were collected from 11 members of the family, including 4 affected by an autosomal recessive rod-cone dystrophy (arRCD), and DNA was extracted. Whole-exome sequencing (WES) was performed on DNA samples of proband and her unaffected maternal uncle.

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In India, mutations in Cytochrome P450 () are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was isolated from the blood and screened for p.

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Purpose: To identify the underlying genetic defect for non-syndromic autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family.

Methods: Family history and clinical data were collected. Linkage analysis using 72 fluorescently labeled microsatellite markers flanking all the 26 candidate genes known for adRP was performed.

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Aims: Present study aimed to investigate the association of aldose reductase (AKR1B1) gene polymorphism (-106C>T; rs759853) with diabetic retinopathy (DR) in type 2 diabetes mellitus (T2DM) patients from north India.

Methods: The present case-control association study recruited 926 subjects, including 487 DR patients and 439 individuals with confirmed T2DM as controls (CDR). AKR1B1 -106C>T polymorphism analysis in these 926 subjects was performed by polymerase chain reaction and direct DNA sequence analysis.

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Background: The present study aimed to examine the association of PPARγ (p.Pro12Ala) polymorphism with type 2 diabetic retinopathy (DR) in patients from north India.

Material And Methods: In this case-control association study a total of 1325 subjects (717 DR patients and 608 individuals with confirmed type 2 diabetes mellitus (T2DM) without retinopathy taken as controls (CDR)), were recruited.

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Herein, we report design, synthesis, and self-assembly of perylene diimide (PDI) based near-IR intracellular probe (PS-PDI). PS-PDI molecules undergo aggregation to form self-assembled nanospheres and nanorods morphology in THF : HO (1 : 1) and DMSO : HO (1 : 9), respectively. The nanospheres have an open hole on surface reminiscent of vesicle structure (with a diameter of internal void in the range of 20-25 nm) whereas lengths of the nanorods extended up to few μm range.

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