Publications by authors named "Shambhavi"

Transethosomes, a fusion of transferosomes and ethosomes, combine the advantageous attributes of both vesicular systems to enhance deformability and skin permeation. While skin delivery is effective for drug transport, overcoming the skin barrier remains a significant challenge, particularly for plant-based products with poor permeability. Transethosomes offer a promising solution, but their low viscosity and retention on skin surfaces led to the development of transethosomal gels.

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A Ru(II)-catalyzed efficient synthesis of 1-isoindoles the cyclization of benzimidates with alkenes has been demonstrated. This methodology exhibits high compatibility with various functionalized activated and unactivated olefins containing different sensitive functional groups. This protocol provides an effective method for synthesizing various 1-isoindole derivatives in decent to excellent yields.

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Aerosols carrying viruses that are released from the oral cavity of infected individuals are the primary, if not the only, means of transmission during viral respiratory disease epidemics. This makes crowded rooms and tiny, enclosed public areas like bathrooms prime environments for the transmission of diseases. Volatile organic compounds (VOCs) and formaldehyde are two contaminants that pose serious threats to human health and well-being in indoor environments.

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Mother to child transmission still accounts for thousands of children being affected with human immunodeficiency virus (HIV) yearly. These children are often detected late in their disease course, most commonly presenting as protein energy malnutrition. Here we present a unique pediatric case who presented with severe symptomatic hypocalcemia.

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Unlabelled: Infection by microsporidian induced appearance of exclusive protein conjugate of 190 kDa in hemocytes of silkworm L (Lepidoptera: Bombycidae). Mass spectrometry of the band showed peptides of low molecular weight 30 kDa lipoprotein (LP30K). Six accessions of LP30K identified from the hemocytes comprised 30 K lipoprotein 1, 30 K protein 1, 2, 6, 7 and 11.

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FAR1 (MIM *616107) is required for the reduction of fatty acyl CoAs to fatty alcohols which is important for plasmalogen biosynthesis. Recently, heterozygous de novo variants in FAR1 have been associated with cataracts, spastic paraparesis, and speech delay (MIM# 619338). Three different heterozygous de novo variants, all located in the same codon, causing substitution of arginine at position 480 into cysteine, histidine, or leucine, were reported in patients in the latter disorder.

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Background And Aims: Inguinal hernia repair is associated with moderate to severe pain that is most extreme in the first 24 hours. The aim of this study was to compare the efficacy of dexamethasone versus magnesium sulphate (MgSO) with bupivacaine in ultrasound-guided transversus abdominis plane (TAP) block for patients undergoing unilateral inguinal hernioplasty.

Methods: Eighty patients were randomly allocated to two groups to receive ultrasound-guided TAP block postoperatively with either 20 ml of 0.

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Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term encompassing various inherited neurological disorders characterised by abnormal iron accumulation in basal ganglia. We aimed to study the clinical, radiological and molecular spectrum of disorders with NBIA. All molecular-proven cases of NBIA presented in the last 5 years at 2 tertiary care genetic centres were compiled.

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A Ru(II)-catalyzed C-H alkenylation of benzimidates with unactivated alkenes providing -alkenylated benzonitriles in good to excellent yields in a highly regio- and stereoselective manner is described. In the reaction, an imidate group converted into a nitrile under the reaction conditions. The alkenylation reaction was compatible with various substituted benzimidates as well as functionalized unactivated olefins, including ibuprofen-, neproxen-, coumarin-, and cholesterol-substituted alkenes.

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FIG4 related leukoencephalopathy has recently been considered as an expanded spectrum of FIG4 related disorders characterized by upper and lower motor neuron involvement, dystonia, intellectual disability, bulbar symptoms with cerebellar atrophy. We report a 7-year-old girl who presented with classic clinical features of FIG4 related leukoencephalopathy and neuroimaging showed characteristic T2 olivary nuclei hyperintensities in addition to bilateral parietal lobe and thalamic hyperintensities and mild cerebellar atrophy. Trio exome sequencing with Sanger confirmation revealed a novel variant c.

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A Rh(III)-catalyzed weak enone carbonyl/ketone-assisted aerobic oxidative C-H olefination of aromatics with unactivated alkenes has been developed. This protocol involves cross-dehydrogenative Heck-type olefination reaction of various substituted biologically relevant chalcones and aromatic ketones such as acetophenones and chromones with various functionalized unactivated olefins in moderate to good yields. Further, -alkylation of chalcones with norbornene is also demonstrated.

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Tuberculosis is a very common disease in India affecting thousands of people, though congenital transmission is very rare and not well known to most clinicians. We present a ten week old infant who presented with marked cervical lymphadenopathy, fever, failure to thrive, hepatosplenomegaly, and bilateral chest crepitations. Investigations were positive for mycobacterium tuberculosis.

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Chain-length-specific subsets of diacylglycerol (DAG) lipids are proposed to regulate differential physiological responses ranging from signal transduction to modulation of the membrane properties. However, the mechanism or molecular players regulating the subsets of DAG species remain unknown. Here, we uncover the role of a conserved eukaryotic protein family, DISCO-interacting protein 2 (DIP2) as a homeostatic regulator of a chemically distinct subset of DAGs using yeast, fly, and mouse models.

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Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-neural abnormalities. We present data of 91 patients from 87 unrelated families referred to our clinic during 2016-2020 and provide a comprehensive clinical and genetic landscape in the studied cohort.

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Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria caused by biallelic variants in MTHFR. We report six subjects with MTHFR deficiency who presented with variable neurological phenotypes which could be viewed as a continuous spectrum.

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Fatty acyl-AMP ligases (FAALs) channelize fatty acids towards biosynthesis of virulent lipids in mycobacteria and other pharmaceutically or ecologically important polyketides and lipopeptides in other microbes. They do so by bypassing the ubiquitous coenzyme A-dependent activation and rely on the acyl carrier protein-tethered 4'-phosphopantetheine (-ACP). The molecular basis of how FAALs strictly reject chemically identical and abundant acceptors like coenzyme A (CoA) and accept -ACP unlike other members of the ANL superfamily remains elusive.

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A Ru(II)-catalyzed weak chelating group-aided -C-H alkylation of arylamides with unactivated olefins in a redox-neutral fashion has been demonstrated. The present alkylation reaction was well-suited for various substituted arylamides and unactivated aliphatic alkenes. In this alkylation reaction, pivalic acid plays dual role in which it delivers the proton source in a protonation step and the corresponding acetate moiety deprotonates the -C-H bond of the arylamides.

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Overgrowth, defined as height and/or OFC ≥ +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) are rare and the full phenotypic and genotypic spectra have not been unraveled. This study was undertaken to characterize the phenotypic and genotypic profile of patients with OGID.

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An efficient Rh(III)-catalyzed aerobic oxidative C-H alkenylation of arylamides with unactivated alkenes is described. The olefination reaction was compatible with various substituted arylamides including primary, secondary, and tertiary as well as functionalized unactivated olefins. Meanwhile, ortho mono/bis-alkylated arylamides were synthesized in the reaction of arylamides with norbornene.

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Background: From an isolated epidemic, coronavirus disease 2019 has now emerged as a global pandemic. The availability of genomes in the public domain after the epidemic provides a unique opportunity to understand the evolution and spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus across the globe.

Methods: We performed whole-genome sequencing of 303 Indian isolates, and we analyzed them in the context of publicly available data from India.

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Disco-interacting protein 2 is a highly conserved three-domain protein with two tandem Adenylate-forming domains. It is proposed to influence the processes involved in neuronal development by influencing lipid metabolism and remains to be characterized. In this study, we show that Disco-interacting protein 2a null mice do not exhibit overt phenotype defects.

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Irrigation water contaminated with arsenic acts as a potent source of contamination to humans through water-soil-crop-food transfer so quantification of safe limit for irrigation water is also critical. A pot experiment was conducted to determine the safe limit for As contaminated irrigation water with two soil types (alluvial and red) using ten levels of contaminated irrigation water (0, 0.25, 0.

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We examined interactions between the 83 kDa heat-shock protein (Hsp83) and long noncoding RNAs (lncRNAs) in Hsp90GFP homozygotes, which almost completely lack lncRNAs but over-express Hsp83. All +/+; Hsp90GFP progeny died before the third instar. Rare Sp/CyO; hsrω Hsp90GFP reached the third instar stage but phenocopied l(2)gl mutants, becoming progressively bulbous and transparent with enlarged brain and died after prolonged larval life.

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