Publications by authors named "Shilpa Rao"

Introduction: Diffuse intrinsic pontine glioma (DIPG) in children comprises 80% of brainstem gliomas. In 2021, 5th edition of WHO CNS tumor classification defined H3K27M altered diffuse midline gliomas (DMGs) which replaced this entity. Lesion location precludes resection and the only current option available is radiotherapy.

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  • * A case study reports a 14-year-old boy diagnosed with diabetes insipidus, initially thought to have a high-grade glioma in the left frontal region, but was later confirmed to have a germinoma through histopathology.
  • * Post-surgery, the patient experienced improvement in his hypernatremia and successfully managed his condition with a small dose of desmopressin, highlighting the unique presentation of this germinoma without typical involvement in key brain regions.
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Purpose: Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, rapidly growing pigmented neoplasm originating from the neural crest. Predominantly affecting infants, it commonly occurs in the head and neck region. MNTI is often locally aggressive with a high recurrence rate.

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Although the short-term heat effects are well-established, longer-term effects, beyond those, have recently received attention, in the context of climate change. Our study aims to investigate the potential effects of long-term exposure to non-optimal warm period temperatures on all-cause mortality in four large regions in the UK, Norway, Italy, and Greece. Daily all-cause mortality counts from 1996 to 2018 for four European NUTS-2 regions including 52-662 small areas were collected and associated with spatiotemporal temperature estimates.

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Background: Noninvasive prediction of H3K27M-altered Diffuse midline gliomas is important because of the involvement of deep locations and proximity to eloquent structures. We aim to predict H3K27M alteration in midline gliomas using radiomics features of T2W images.

Methods: Radiomics features extracted from 124 subjects (69 H3K27M-altered/55 H3K27M-wild type).

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Objectives: We aim to characterize the clinical, pathological, laboratory and imaging features of various antibody defined IIM subgroups in Indian population.

Methodology: 103 patients who satisfied 2017 ACR/ EULAR Classification criteria for IIM, and tested seropositive for myositis antibodies using Immunoblot technique were retrospectively identified. Patients were classified into following subgroups - Mi2B group, SRP group, Anti RNA Synthetase antibody group (Jo 1, PL 7, PL 12, OJ), multiple MSA, only MAA group (U1RNP, Ro 52, SS-A, SS-B, PM Scl 75, PM Scl 100).

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Background: The minimum mortality temperature (MMT) or MMT percentile (MMTP) is an indicator of population susceptibility to nonoptimum temperatures. MMT and MMTP change over time; however, the changing directions show region-wide heterogeneity. We examined the heterogeneity of temporal changes in MMT and MMTP across multiple communities and in multiple countries.

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Objectives: While COVID-19 continues to challenge the world, meteorological variables are thought to impact COVID-19 transmission. Previous studies showed evidence of negative associations between high temperature and absolute humidity on COVID-19 transmission. Our research aims to fill the knowledge gap on the modifying effect of vaccination rates and strains on the weather-COVID-19 association.

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Article Synopsis
  • The study investigates how daily rainfall characteristics—like intensity, duration, and frequency—affect mortality rates from all causes, cardiovascular issues, and respiratory problems across 34 countries from 1980 to 2020.
  • It utilizes a time series analysis to evaluate the association between daily mortality and rainfall events that occur at different return periods (one, two, and five years), including the effects of extreme rainfall with a 14-day lag.
  • The results indicate that extreme rainfall events (five-year return period) correlate with increased mortality rates, particularly for respiratory cases, while moderate rainfall shows protective effects, and the impact varies based on climate and vegetation.
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Context.—: Tumor contaminants were incidentally noted in frozen section margins of oropharyngeal squamous cell carcinoma.

Objective.

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Background: Heterogeneity in temperature-mortality relationships across locations may partly result from differences in the demographic structure of populations and their cause-specific vulnerabilities. Here we conduct the largest epidemiological study to date on the association between ambient temperature and mortality by age and cause using data from 532 cities in 33 countries.

Methods: We collected daily temperature and mortality data from each country.

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Background: Evidence suggests that air pollution modifies the association between heat and mortality. However, most studies have been conducted in cities without rural data. This time-series study examined potential effect modification of particulate matter (PM) and ozone (O) on heat-related mortality using small-area data from five European countries, and explored the influence of area characteristics.

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Introduction: Meningiomas in children are rare, constituting less than 5% of all paediatric brain tumours and less than 2% of all meningiomas. Multiple meningiomas (synchronous or metachronous) are even more uncommon, typically occurring due to radiation exposure or in patients with phacomatoses like Neurofibromatosis II. This report presents the case of a child with metachronous meningiomas without dural attachment in unusual locations, along with their management.

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Article Synopsis
  • - Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a new type of brain tumor mainly affecting children, characterized by specific imaging and histological features, often presenting with seizures.
  • - In a study of 15 diagnosed cases, imaging revealed well-defined solid-cystic tumors with calcifications, and histopathology showed a mix of tumor cell types that were immunopositive for CD34.
  • - Molecular analysis detected mutations consistent with PLNTY, including BRAF and FGFR2/3 gene alterations, indicating it should be considered as a potential diagnosis for similar tumors, particularly in younger patients with seizure histories.
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Characterization of shared patterns of RNA expression between genes across conditions has led to the discovery of regulatory networks and novel biological functions. However, it is unclear if such coordination extends to translation, a critical step in gene expression. Here, we uniformly analyzed 3,819 ribosome profiling datasets from 117 human and 94 mouse tissues and cell lines.

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Granule cell neuronopathy (GCN) caused by John Cunningham virus (JCV) is a rare yet significant neurological complication, particularly in immunocompromised individuals such as those with AIDS. We present a case of a 34-year-old HIV-positive male exhibiting classical symptoms of cerebellar dysfunction. Magnetic resonance imaging revealed demyelination suggestive of progressive multifocal leukoencephalopathy (PML).

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Background: Tuberculomas are prevalent in developing countries and demonstrate variable signals on MRI resulting in the overlap of the conventional imaging phenotype with other entities including glioma and brain metastasis. An accurate MRI diagnosis is important for the early institution of anti-tubercular therapy, decreased patient morbidity, mortality, and prevents unnecessary neurosurgical excision. This study aims to assess the potential of radiomics features of regular contrast images including T1W, T2W, T2W FLAIR, T1W post contrast images, and ADC maps, to differentiate between tuberculomas, high-grade-gliomas and metastasis, the commonest intra parenchymal mass lesions encountered in the clinical practice.

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Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease.

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Sellar-suprasellar masses, with diverse origins ranging from infiltrative to neoplastic processes, are frequently encountered in endocrinology clinics. Evaluation involves a detailed history, hormone analysis, and imaging of the hypothalamic-pituitary axis. However, overlapping hormonal and imaging features can complicate diagnosis, often necessitating confirmation through tissue biopsy.

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Introduction: Diffuse midline glioma (DMG) is a relatively new entity which was introduced in the fourth edition of the WHO classification of CNS tumours in 2016 and later underwent revision in 2021. It is an infiltrative glioma arising from midline structures, viz., thalamus, spine, and brainstem.

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Background: Peripheral neuropathy is one of the manifestations of primary or familial amyloidosis. Published studies from India are limited.

Materials And Methods: We reviewed the clinical and pathological features of amyloid neuropathy diagnosed at our Institute over the last 39 years.

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Purpose: The incidence of oropharyngeal squamous cell carcinoma (OPSCC) has continually increased during the past several decades. Using transoral robotic surgery (TORS) significantly improves functional outcomes relative to open surgery for OPSCC. However, TORS limits tactile feedback, which is often the most important element of cancer surgery.

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Morvan's syndrome is a rare, complex autoimmune syndrome comprising peripheral nerve hyperexcitability, dysautonomia, insomnia, and encephalopathy. In this case report, we highlight the clinical and pathological findings of an elderly gentleman who presented to us with clinical features of Morvan's syndrome associated with anti-contactin-associated protein 2 (CASPR-2) antibodies. Histopathology [Figure 3] revealed cortical atrophy with gliosis and mild microglial proliferation.

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