Gaurav Y. Shah

Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1

Claire Booth, Julián Sevilla, Elena Almarza, Caroline Y. Kuo et autres

(Abstracted from N Engl J Med 2025;392:1698-1709) Leukocyte adhesion deficiency type I (LAD-I) is an autosomal recessive immune disorder marked by recurrent, life-threatening infections, with 25% to 39% mortality before age 2 years without curative therapy. Common symptoms include umbilical-cord complications, poorly …

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Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1

Claire Booth, Julián Sevilla, Elena Almarza, Caroline Y. Kuo et autres

Background The β 2 common integrin subunit CD18 is essential for leukocyte–endothelial adhesion and extravasation to inflamed or infected tissue. Damaging variants in ITGB2 , which encodes CD18, cause leukocyte adhesion deficiency type I (LAD-I), an inborn error of immunity that leads …

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Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease

Barry Greenberg, Matthew R.G. Taylor, Eric Adler, Steven D. Colan et autres

BACKGROUND: ), which encodes the LAMP2 protein. In male patients, the predominant phenotype is progressive cardiac hypertrophy, cardiac dysfunction, and early death. There are no directed therapies for the disease. METHODS: , which encodes an isoform of LAMP2. The primary outcomes were …

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Traumatic intracorneal cyst and review of literature

Sushmita G. Shah, Vatsal Parikh, Drushti N Raichura, Gaurav Y. Shah

A 32-year-old male was referred to us with complaints of a progressively increasing white spot in his right eye, following a lamellar corneal tear. A diagnosis of traumatic intracorneal cyst was made. The cyst was successfully treated by chemical cauterization using 96% …

Comparison of CNN Architecture of Image Classification Using CIFAR10 Datasets

Yogesh Pant, Gaurav Y. Shah, Roshan Ojha, Roshan Thapa et autres

This paper demonstrates image classification using deep learning. Deep learning has the inherent ability to automatically discover and extract meaningful features for specific applications. Among the popular techniques in deep learning, the convolutional neural network (CNN) stands out. CNN consists of an …

Machine Learning Based Time Domain Millimeter-Wave Beam Prediction for 5G-Advanced and Beyond: Design, Analysis, and Over-The-Air Experiments

Qiaoyu Li, Philip Sisk, Arumugam Kannan, Taesang Yoo et autres

Artificial intelligence (AI) or machine learning (ML) based beam prediction is currently studied in the 3rd Generation Partnership Project (3GPP) fifth generation (5G)-Advanced new ratio (NR) standardization for future commercialization and standard evolution towards sixth generation (6G) communications, wherein time domain (TD) …

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Amniotic Membrane Grafting for Ocular Surface Inflammation Following Topical Interferon Alpha 2b Therapy

Sushmita G. Shah, Dilip Kumar Mishra, Gaurav Y. Shah

We describe a rare case of a 58-year-old female with ocular surface squamous neoplasia (OSSN) in her left eye. She was treated for 12 months with topical interferon alpha-2b (IFNα-2b) eye drops and OSSN resolved completely. She presented with a whitish elevated …

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Corneal scarring following collagen cross-linking: evidence of increased lysyl oxidase activity

Sushmita G. Shah, Rohit Shetty, Arkasubra Ghosh, Gaurav Y. Shah

PURPOSE: To report a case of corneal scarring following collagen cross linking in a young female. METHODS: A 24-year-old female presented to us with complaints of decreased vision and a white spot in her left eye following collagen cross linking (CXL) performed …

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Oral mucous membrane grafting for unilateral lid margin keratinization following radiotherapy

Sushmita G. Shah, Dilip Kumar Mishra, Gaurav Y. Shah

We describe the outcomes of oral mucous membrane grafting as a surgical technique for unilateral lid margin keratinization following radiotherapy. A 47-year- old woman presented with an 8-month history of a white spot in her right eye. She had a history of …

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Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease

Ana Maria Manso, Sherin I. Hashem, Bradley Nelson, E.W. Gault et autres

gene transfer improves metabolic and physiologic function in a DD murine model, suggesting that a similar therapeutic approach may be effective for treating patients with this highly morbid disease.

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Re-evaluating Our Perspective on Retinal Artery Occlusion from Carotid Dissection: A Report of Three Cases and Review of the Literature

Mrinali Patel, Gaurav Y. Shah, John B. Davies, Robert A. Mittra et autres

BACKGROUND AND OBJECTIVE: Retinal artery occlusion from carotid dissection is rare and classically considered a post-traumatic phenomenon occurring in young patients and associated with additional symptoms of dissection such as neck pain, headache, or focal neurological deficits. PATIENTS AND METHODS: The authors …

ROLE OF FAMCICLOVIR IN THE MANAGEMENT OF ACUTE RETINAL NECROSIS IN DEVELOPING COUNTRIES

Avinash Pathengay, Gaurav Y. Shah, Manmath Kumar Das, Manav Khera

In Brief Purpose: To evaluate clinical presentations, management strategies, and results in patients with acute retinal necrosis (ARN) who received famciclovir. Methods: In a retrospective, noncomparative, interventional case series, we reviewed case records of patients with ARN from the computerized database between …

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