Publications by authors named "Khandelwal P"

A patient with persistent refractory headaches from aneurysmal subarachnoid hemorrhage was treated with monthly erenumab injections, a monoclonal antibody to the calcitonin gene-related peptide (CGRP) receptor. These injections decreased the frequency and severity of the patient's debilitating headaches from daily to once or twice per month with positive improvement in function and quality of life. To our knowledge, this is the first reported case in the literature of a patient with persistent post-subarachnoid hemorrhage headache that was successfully treated with an antibody against the CGRP receptor.

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Arteriovenous fistulas of the filum terminale are rare vascular malformations that predominantly affect males and can present with various neurological symptoms. In this study, we indexed previously published cases of filum terminale arteriovenous fistulas demonstrating that endovascular and microsurgical management are both proven to be appropriate and successful treatment modalities with low complication rates. Endovascular treatment is far less invasive; however, it is associated with higher failure rates, which need to be managed surgically.

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Background: Chronic graft-versus-host disease (cGVHD) adversely impacts return to work for adult allogeneic hematopoietic stem cell transplant (HSCT) survivors, but no data exist on children with cGVHD transitioning back to school. We hypothesized that cGVHD adversely impacts broad aspects of school experience of children compared to their allogeneic-HSCT peers without cGVHD.

Methods: We conducted a single center cross-sectional pilot study using a 42-item questionnaire, investigating academic performance and social-emotional aspects of schooling pre- and post-HSCT.

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  • Alzheimer's disease (AD) involves both neurodegenerative and vascular components, which are linked to lower cerebral blood flow (CBF), but differentiating their specific impacts is still uncertain.
  • A study using advanced MRI techniques examined CBF in 257 participants across the AD spectrum, revealing that vascular risk factors (VRFs) and amyloid positivity have different effects on CBF in various brain regions.
  • The research indicates that specific patterns of reduced CBF can help distinguish between effects caused by Alzheimer’s disease and those related to vascular risk factors, highlighting the role of small vessel disease (SVD) in AD development.
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Polypathology is a major driver of heterogeneity in clinical presentation and extent of neurodegeneration (N) in patients with Alzheimer Disease (AD). Beyond amyloid (A) and tau (T) pathologies, over half of patients with AD have concomitant pathology such as α-synuclein (S) in mixed AD with Lewy Body Disease (LBD). Patients with Mixed Etiology Dementia (MED) such as AD+LBD have faster progression and potentially differential responses to targeted treatments, though the diagnosis of AD+LBD can be challenging given overlapping clinical and imaging features.

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Sepsis-induced Acute Lung Injury (ALI) and Acute Respiratory Distress Syndrome (ARDS) pose life-threatening risks due to an excessive activation of proinflammatory cytokines via the JAK pathway. Currently, no confirmed drug treatment exists for ALI. In this study, we explored JAK1 as a potential therapeutic target to address this issue.

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  • A meta-analysis was conducted to investigate the relationship between COVID-19 and two rare conditions: atypical hemolytic uremic syndrome (aHUS) and thrombotic thrombocytopenic purpura (TTP), revealing that aHUS cases were significantly more associated with COVID-19 infection rather than vaccination, while TTP showed the opposite trend.
  • The study analyzed data from 118 reports involving 170 patients, finding that most patients with aHUS required kidney replacement therapy and that severe COVID-19 was linked to poor outcomes in TTP patients.
  • The results suggest that both COVID-19 infection and vaccination may trigger these conditions, particularly in pediatric patients, emphasizing the need for awareness and potential management
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Ectopic teeth arise from developmental abnormalities and can be supernumerary, deciduous, or permanent teeth. They can cause orofacial pain, swelling, and infection. There is a major paucity in literature about ectopic mandibular third molar (EMTM) and its causes, symptoms, and treatment.

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  • Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
  • A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
  • Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
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Background: Flow diversion has revolutionized the management of wide-necked intracranial aneurysms (IAs). We aimed to assess the effectiveness and safety of the new generation 64-wire Surpass Evolve for the treatment of unruptured small/medium-sized IAs.

Methods And Results: This is a subanalysis from the SEASE (Safety and Effectiveness Assessment of the Surpass Evolve) registry, an observational cohort study including 15 academic institutions in North America and Europe between July 2020 and October 2022.

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Objective: Carotid-cavernous fistulas (CCFs) are rare arteriovenous communications allowing blood to flow from the carotid artery into the cavernous sinus. Although currently coil and/or liquid embolization remain the preferred treatment methods for CCFs, flow diverters (FD) stents represent a viable alternative to traditional embolization techniques. This study explores both the technical aspects and rationale behind using FD stents as a stand-alone treatment approach for CCFs.

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  • The lack of standardized definitions for clinical trial endpoints in pediatric kidney diseases makes it difficult to assess the effectiveness of treatments, particularly for steroid-resistant nephrotic syndrome (SRNS).
  • SRNS is challenging to manage, often leading to kidney failure despite current therapies having low cure rates.
  • An international group has developed standardized definitions for trial outcomes in SRNS, focusing on measurements like urine protein/creatinine ratios and estimated glomerular filtration rates to better evaluate treatment effectiveness.
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  • The study looked at whether a medical procedure called thrombectomy helps patients who have a large stroke as seen on a specific type of scan called a noncontrast CT within 24 hours of having the stroke.
  • It involved 300 patients from different hospitals who were split into two groups; one group received the thrombectomy treatment, while the other only received regular care.
  • The main goal was to see if those who had thrombectomy had better recovery after 90 days compared to those who didn’t, along with checking if there were any serious side effects.
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Diabetic kidney disease (DKD) is the leading cause of end-stage kidney disease. DKD is a heterogeneous disease with complex pathophysiology where early endothelial dysfunction is associated with disease progression. The Tie2 receptor and Angiopoietin 1 and 2 ligands are critical for maintaining endothelial cell permeability and integrity.

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MRI allows brain anatomy to be examined at high resolution and to link pathology measures with morphometric measurements. However, automated segmentation methods for brain mapping in postmortem MRI are not well developed, primarily due to limited availability of labeled datasets, and heterogeneity in scanner hardware and acquisition protocols. In this work, we present a high-resolution dataset of 135 postmortem human brain tissue specimens imaged at 0.

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The side effects of an antipsychotic drug, such as fibrous overgrowth and gingival inflammation, or a combination of both, can lead to gingival enlargement. Causes for developing plaque include neglected cleanliness, architectural differences disturbing contact, faulty restorative buildup, cavities, and orthodontic appliances. Hence, in actual clinical scenarios, finding out the exact reason with precision is the key to appropriate therapeutic intervention.

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Background: Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease in clinical settings other than the typical presentation of Alport syndrome (AS).

Methods: We reviewed the clinical and histological records of children diagnosed with Alport syndrome based on next-generation sequencing. Variants on clinical exome sequencing were categorized using ACMG 2015 criteria.

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  • The medial temporal lobe (MTL) is crucial for understanding cognitive decline related to neurodegenerative diseases, but the connection between MTL atrophy and specific proteinopathies remains unclear.
  • Researchers developed two deep learning algorithms to quantitatively measure phosphorylated tau (p-tau) and TDP-43 (pTDP-43) pathology in the MTL, focusing on their roles in Alzheimer's disease and LATE.
  • Their study found that quantitative p-tau measures better correlate with structural changes in the MTL compared to semi-quantitative ratings, revealing significant associations with cortical thickness and volume, especially in severe Alzheimer's cases.
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  • Odontogenic cysts (OCs) are jaw cysts that develop from the odontogenic epithelium, mainly due to cell proliferation or degeneration, and this study focused on their prevalence, characteristics, and clinicopathological features.
  • Out of 218 OCs analyzed from 200 patients, the average age was about 36 years, with a slightly higher occurrence in males; most patients reported pain, and radicular cysts were the most common type found.
  • The study observed a 3.20% recurrence rate, with common risk factors including age, sex, and location, and highlighted that the findings align with international studies on OCs.
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Class II malocclusion is a recurrent problem that may occur at a young age. If treated initially, the malocclusion can be corrected by redirecting the growth without invasive modalities and avoiding orthognathic surgeries. A female patient aged 10 years three months came to the department of orthodontics having a complaint of upper front teeth placed forwardly, diagnosed with skeletal class II due to retrusive mandible and vertical maxillary excess with hyper divergent growth pattern with increased anterior facial height, with Angle's molar class II division 1 malocclusion, increased overjet of 13 mm and overbite of 7 mm, acute nasolabial angle, deep mentolabial sulcus, and hyperactive mentalis.

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  • The study investigated WDR72-associated distal renal tubular acidosis (WDR72-dRTA) in children under 18 from multiple centers in India, focusing on their clinical characteristics and genetic profiles.
  • A total of 22 patients were analyzed, revealing common symptoms like polyuria, poor growth, rickets, and a high prevalence of amelogenesis imperfecta, alongside specific genetic mutations, with most having biallelic nonsense variants.
  • Although most patients showed improvement in growth and maintained good kidney function during follow-up, some progressed to chronic kidney disease, indicating the need for careful long-term monitoring.
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  • * Data from 670 patients revealed that while IVT may improve some outcomes, such as higher chances of achieving a modified Rankin Scale score of 0-2 in univariable analysis, this benefit was not consistently observed in more rigorous multivariable analyses.
  • * Overall, the findings suggest that adjunctive IVT may not significantly enhance clinical outcomes or safety compared to MT alone for this patient population.
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The transposition of teeth is an infrequent dental abnormality characterized by the exchange of position between two adjacent teeth. This report presents a unique case of transposition involving the maxillary right canine and lateral incisor in a 20-year-old female patient. Clinical assessment and radiographic evaluation revealed the unconventional positioning of the affected teeth.

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Objectives: This study aimed to evaluate the safety of dichoptic balanced binocular viewing (BBV) for amblyopia in children, plus feasibility, adherence, acceptability, trial methodology and clinical measures of visual function.

Design: We carried out an observer-masked parallel-group phase 2a feasibility randomised controlled trial.

Setting: Two study sites, a secondary/tertiary and a community site.

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