7,851 results match your criteria: "Massachusetts Eye and Ear Infirmary & Harvard Medical School[Affiliation]"

Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder. Antiamyloid antibody treatments modestly slow disease progression in mild dementia due to AD. Emerging evidence shows that homeostatic dysregulation of the brain immune system, especially that orchestrated by microglia, plays an important role in disease onset and progression.

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Prime editing (PE) is a CRISPR-based tool for genome engineering that can be applied to generate human induced pluripotent stem cell (hiPSC)-based disease models. PE technology safely introduces point mutations, small insertions, and deletions (indels) into the genome. It uses a Cas9-nickase (nCas9) fused to a reverse transcriptase (RT) as an editor and a PE guide RNA (pegRNA), which introduces the desired edit with great precision without creating double-strand breaks (DSBs).

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Evaluating the Utility of Initial Exams in Retinopathy of Prematurity: Proposal of FIRST-ROP Algorithm for a Medium-Risk Cohort.

Ophthalmology

January 2025

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA. Electronic address:

Purpose: To assess the utility of the first or second examinations for retinopathy of prematurity (ROP) in a medium-risk cohort of infants and to propose an optimization to the current ROP screening guidelines.

Design: Retrospective consecutive study.

Subjects: Infants screened for ROP between January 2017 and August 2023 at three different tertiary-level care neonatal intensive care units.

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Prcis: Community-based eye health screenings that incorporated fundus photography and optometric exams in a high-risk NYC population effectively identified a higher than average number of participants that required an in-office glaucoma evaluation.

Purpose: To report glaucoma screening rates and risk factors associated with referral for in-office glaucoma evaluation in the Manhattan Vision Screening and Follow-up Study (NYC-SIGHT).

Methods: In this 5-year, cluster-randomized clinical trial, eligible individuals aged 40 and older were recruited from affordable housing developments and senior centers.

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Purpose: Lagophthalmos from facial nerve palsy is traditionally measured with patients in an upright position and may fail to identify positional variability. This study aims to assess the effects of body position, surgical technique, implant material, and patient demographics on lagophthalmos.

Methods: A multicenter prospective study was performed to evaluate positional changes in paralytic lagophthalmos and the effects of various patient and surgical factors.

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Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.

Genes (Basel)

December 2024

Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.

: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .

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Introduction: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive clinical genetic testing.

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Cost Effectiveness Analysis of Digital Therapeutics for Amblyopia.

Ophthalmology

January 2025

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA. Electronic address:

Purpose: To evaluate the cost-utility of Luminopia and CureSight as therapy for amblyopia compared to current common amblyopic treatments such as glasses, atropine drops, and patching.

Design: Cost analysis based on data from published randomized control trials (RCTs).

Subjects: None; based on data from the Luminopia, CureSight and atropine RCTs.

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A 52-year-old man from Somalia with an asymptomatic macular hemorrhage.

Retin Cases Brief Rep

October 2024

Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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To understand the environmental burden associated with intravitreal injections (IVIs) and propose actionable solutions to mitigate this impact. An analysis of current IVI practices was conducted, focusing on packaging waste, energy consumption, the carbon footprint, and disposal processes. Data on the environmental footprint of IVIs were collected from the literature and industry reports.

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Dual-Polymer Carboxymethyl Cellulose and Poly(Ethylene Oxide)-Based Gels for the Prevention of Postsurgical Adhesions.

J Biomed Mater Res A

January 2025

Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Northeastern University, Boston, Massachusetts, USA.

Postsurgical adhesions are a common complication associated with surgical procedures; they not only impact the patient's well-being but also impose a financial burden due to medical expenses required for reoperative surgeries or adhesiolysis. Adhesions can range from a filmy, fibrinous, or fibrous vascular band to a cohesive attachment, and they can form in diverse anatomical locations such as the peritoneum, pericardium, endometrium, tendons, synovium, and epidural and pleural spaces. Numerous strategies have been explored to minimize the occurrence of postsurgical adhesions.

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Background: Observational studies suggest circulating tumor HPV DNA may facilitate early detection of recurrent HPV-positive oropharynx cancer (OPC). We prospectively investigated whether biomarker-guided surveillance detects recurrence sooner than standard-of-care.

Patients And Methods: We enrolled patients evaluated for HPV-positive OPC at a single center 11/2020-4/2023 undergoing curative-intent treatment in a single-arm cohort study.

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Introduction: The relations between coffee and tea consumption and head and neck cancer (HNC) incidence are unclear. With increasing global HNC burden, this study aims to examine the association between coffee, tea, and HNC.

Methods: A pooled analysis of 9548 HNC cases and 15,783 controls from 14 individual-level case-control studies was conducted from the International Head and Neck Cancer Epidemiology consortium.

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What is causing this patient's loss of smell?

JAAPA

January 2025

Robynlynn Harwood practices in head and neck surgical oncology and is supervisor of the ED at Massachusetts Eye and Ear Infirmary in Boston, Mass. Katherine L. Reinshagen is an assistant professor of radiology at Harvard Medical School in Boston, Mass., and a radiologist at Massachusetts Eye and Ear Infirmary. Daniel G. Deschler is the Dr. Eugene N. and Barbara L. Myers Chair in Head and Neck Surgery and vice chair for academic affairs at Massachusetts Eye and Ear Infirmary, and a professor in the Department of Otolaryngology-Head and Neck Surgery at Harvard Medical School. The authors have disclosed no potential conflicts of interest, financial or otherwise.

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Purpose: To identify areas of consensus among experts on the performance of endothelial keratoplasty by using a modified Delphi approach, to help create a framework for novice surgeons to adopt these procedures.

Methods: Thirty-one international experts in endothelial keratoplasty participated. Two rounds of electronic survey were followed by a hybrid, virtual meeting.

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To determine whether the availability of a cytopathology-confirming diagnosis is correlated with the prognostic accuracy of a gene expression profiling assay. A single-center retrospective review was performed of patients diagnosed with uveal melanoma who had a fine-needle aspiration biopsy and gene expression profiling before proton therapy from 2012 to 2020. The development of metastases was compared in patients with gene expression profiling and cytopathology (gene expression profiling+cytopathology group) and patients with gene expression profiling only (gene expression profiling only group).

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Purpose: To report the design of FLuorometholone as Adjunctive MEdical therapy for TT surgery (FLAME) trial.

Design: Parallel design, double-masked, placebo-controlled clinical trial with 1:1 randomization to fluorometholone 0.1% eye drops twice daily or placebo twice daily for 4 weeks in eyes undergoing trachomatous trichiasis (TT) surgery for assessing the efficacy, safety, and cost-effectiveness of fluorometholone 0.

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Three strains were cultured from the eyes of CD36-knockout mice (B6.129S1-/J) with and without keratitis housed at a biomedical research institute. Bacteria were sequenced using Illumina MiSeq technology for subsequent phylogenetic characterization and identification of virulence factor genes conferring pathogenic potential.

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Article Synopsis
  • Spiral ganglion neuron (SGN) degeneration may lead to poorer hearing outcomes in cochlear implant (CI) users, but there's no existing method to locate these degenerated areas in patients.
  • Research on guinea pigs showed that small cochlear micro-lesions significantly increased electrical thresholds and lowered eCAP amplitudes, with effects noticeable up to 3.5 mm away from the lesions.
  • A new electrophysiological marker called the Failure Index (FI) was developed, which accurately indicates the presence and proximity of SGN degeneration and demonstrates a high classification accuracy in identifying affected areas, making it a promising tool for clinical applications.
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Effective Nose-to-Brain Delivery of Blood-Brain Barrier Impermeant Anti-IL-1β Antibody via the Minimally Invasive Nasal Depot (MIND) Technique.

ACS Appl Mater Interfaces

December 2024

Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Northeastern University, 360 Huntington Avenue, 140 The Fenway Building, Boston, Massachusetts 02115, United States.

Treatment of neuroinflammation and neurodegenerative diseases using biologic therapies is limited due to the blood-brain barrier (BBB). This study explores a clinically validated approach to bypass the BBB for the purposes of direct central nervous system (CNS) delivery of antibodies using the Minimally Invasive Nasal Depot (MIND) technique. Using a lipopolysaccharide (LPS)-induced mouse model of neuroinflammation, we evaluated the efficacy of MIND in delivering a BBB impermeant full-length anti-IL-1β antibody.

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Article Synopsis
  • - Familial dysautonomia (FD) is a serious inherited disorder caused by a specific genetic mutation that leads to neurological and systemic issues, resulting in shorter life expectancy for those affected.
  • - Researchers developed a CRISPR base editor that can precisely correct the T-to-C mutation causing FD, achieving up to 70% successful editing in cell tests and improving the inclusion of a specific gene exon by over 50%.
  • - The study also included an effective delivery method using engineered adeno-associated virus vectors, demonstrating that this approach can correct genetic defects in neurons and shows promise for a potential permanent treatment for FD with minimal side effects.
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Article Synopsis
  • Familial exudative vitreoretinopathy (FEVR) is a rare genetic condition affecting retinal blood vessel development, often mistaken for retinoblastoma in infants with severe symptoms.
  • A case involved a 2-month-old girl with eye abnormalities and MRI findings that helped confirm FEVR after the left eye was removed for further investigation.
  • Genetic testing revealed a new variant linked to FEVR, emphasizing the need to differentiate it from retinoblastoma due to overlapping symptoms in young children.
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Purpose: The anti-inflammatory effect of therapeutic pars plana vitrectomy (PPV) in the management of posterior segment uveitis is incompletely quantified. In this study, we evaluated the change in total immunosuppression load (TIL) following PPV for the eyes of patients with non-infectious uveitis.

Methods: Retrospective chart review of patients with non-infectious posterior segment uveitis on continuous anti-inflammatory therapy (systemic corticosteroids ± immunomodulatory therapy [IMT]) ±3 months, who received therapeutic PPV for non-resolving inflammation.

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Article Synopsis
  • ATP concentrations across cells, tissues, and organisms are typically found at high millimolar (mM) levels, despite only requiring micromolar (μM) amounts for cellular functions.
  • The significance of ATP may extend beyond energy transfer, as it functions as a hydrotrope, potentially playing a key role in cellular homeostasis.
  • This hypothesis suggests that ATP helps prevent harmful protein aggregation and maintains protein solubility, a crucial function across various life forms and evolutionary domains.
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