Objective: To illustrate patterns of cytogenetic abnormalities that promote progression and/or transformation in myelodysplastic syndrome.
Methods: In this study we evaluated three different data sets to identify recurrent cytogenetic abnormalities (RCAs) to delineate the cytogenetic evolutionary trajectories and their clinical significance.
Results: Datasets 1 and 2 were 2402 cross sectional samples from Mitelman database of Chromosome Aberrations and Gene Fusions in Cancer; these were used to discover RCAs and to validate them.
Objectives: The aim of the study was to identify trends in postoperative management of persons undergoing surgery for Zenker diverticula (ZD) by evaluating length of stay (LOS), diet on discharge, and imaging with or without surgical complication.
Methods: Prospectively enrolled adult patients with cricopharyngeal muscle dysfunction with diverticula undergoing surgery from August 1, 2017 to February 1, 2023 were included. Data were extracted from a multi-institutional REDCap database, summarizing means, medians, percentages, and frequencies.
Novel strategies are needed to combat multidrug resistance in pancreatic ductal adenocarcinoma (PDAC). We applied genomic approaches to understand mechanisms of resistance in order to better inform treatment and precision medicine. Altered function of chromatin remodeling complexes contribute to chemoresistance.
View Article and Find Full Text PDFCold Spring Harb Mol Case Stud
June 2023
Background: Pancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers based on five-year survival rates. Genes contributing to chemoresistance represent novel therapeutic targets that can improve treatment response. Increased expression of ANGPTL4 in tumors correlates with poor outcomes in pancreatic cancer.
View Article and Find Full Text PDFWe collected and analyzed genomic sequencing data from individuals with clinician- diagnosed early-onset or atypical dementia. Thirty-two patients were previously described, with sixty-eight newly described in this report. Of those sixty-eight, sixty-two patients reported Caucasian, non-Hispanic ethnicity and six reported as African American, non-Hispanic.
View Article and Find Full Text PDFPancreatic ductal adenocarcinoma (PDAC) is one of the deadliest cancers based on five-year survival rates. Genes contributing to chemoresistance represent novel therapeutic targets that can improve treatment response. Increased expression of in tumors correlates with poor outcomes in pancreatic cancer.
View Article and Find Full Text PDFObjective: To assess barium esophagram (BAS) as a diagnostic marker for patients with Killian Jamieson diverticula (KJD).
Methods: Prospective, multicenter cohort study of individuals enrolled in the Prospective OUtcomes of Cricopharyngeus Hypertonicity (POUCH) Collaborative. Patient demographics, comorbidities, radiographic imaging reports, laryngoscopy findings, patient-reported outcome measures (PROM), and operative reporting were abstracted from a REDCap database and summarized using means, medians, percentages, frequencies.
Objective: To describe demographics and imaging and compare findings and symptoms at presentation in a large cohort of persons with cricopharyngeus muscle dysfunction (CPMD) with and without hypopharyngeal diverticula.
Methodology: Prospective, multicenter cohort study of all individuals enrolled in the Prospective OUtcomes of Cricopharyngeal Hypertonicity (POUCH) Collaborative. Patient survey, comorbidities, radiography, laryngoscopy findings, and patient-reported outcome measures (e.
Introduction: Chronic cough is a persistent cough lasting greater than eight weeks. The prevalence rate is estimated to be 9% to 33% in the United States. There are several treatment modalities described in current literature including medical, surgical, and behavioral interventions.
View Article and Find Full Text PDFObjectives/hypothesis: Few studies address the demographics/epidemiology/socioeconomic status of patients presenting to a laryngologist at a tertiary care center for treatment. To identify any possible disparities in voice, airway, and swallowing care, we sought to analyze the aforementioned data for new patients presenting to the voice center at an academic medical center.
Methods: This is a retrospective cohort study of prospectively collected data from an institutional database of 4,623 new adult patients presenting for laryngological care at a tertiary care, academic medical center from 2015 to 2020.
Background: Pancreatic ductal adenocarcinoma (PDAC) patients suffer poor outcomes, including a five-year survival of below 10%. Poor outcomes result in part from therapeutic resistance that limits the impact of cytotoxic first-line therapy. Novel therapeutic approaches are needed, but currently no targeted therapies exist to treat PDAC.
View Article and Find Full Text PDFObjectives: Globus pharyngeus (GP) is described as the subjective sensation of having a "lump" in the throat in the absence of correlating physical findings or dysphagia. Historically, despite the frequency of patient complaints, GP has been difficult to quantify with current outcome measures. This is in large part due to lack of a user-friendly, modernized, objective patient-reported outcome measure (PROM) of symptom severity.
View Article and Find Full Text PDFOccupational health nurses play a key role in evaluating innovative technologies that can aid in providing safe and rapid care and reduce lost work time. A nurse-led employee health clinic participated in a validation study of a novel pathogen detection technique developed by GeneCapture, Inc. Their proposed portable urinary tract infection (UTI) in vitro diagnostic test was challenged with discarded, deidentified urine samples from patients presenting with typical UTI symptoms collected at two university clinics and two multiphysician practices.
View Article and Find Full Text PDFObjective: To determine the effects of globus pallidus interna (GPi) deep brain stimulation (DBS) on speech and voice quality of patients with primary, medically refractory dystonia.
Methods: Voices of 14 patients aged ≥18 years (males = 7 and females = 7) with primary dystonia (DYT1 gene mutation dystonia = 4, cervical dystonia = 6, and generalized dystonia = 4) with bilateral GPi DBS were assessed. Five blinded raters (two fellowship-trained laryngologists and three speech/language pathologists) evaluated audio recordings of each patient pre- and post-DBS.
Objective: This study aimed to determine the effect of topical lidocaine on Penetration-Aspiration Scale (PAS) scores and patient comfort and tolerance of flexible endoscopic evaluation of swallowing (FEES) examinations in dysphagic patients.
Methods: Adults with dysphagia referred for swallowing evaluation were recruited to participate in consecutive nonanesthetized and then anesthetized FEES examinations. Under endoscopic visualization, participants consumed 6 swallows consisting of graduated volumes of milk, pudding, and cracker in each condition and recorded their discomfort and tolerance in the 2 conditions.
Objective: Tracheal reconstruction using a stem cell-based engineered trachea has recently shown promise. Our goal is to achieve a single-stage stem cell-based tracheal replacement.
Study Design: Prospective feasibility study.
Objectives/hypothesis: To assess the effects of a typical otolaryngologic dose of 1 mL of 4% lidocaine on penetration aspiration scale scores and participant discomfort during flexible endoscopic evaluation of swallowing.
Study Design: A prospective pilot study.
Methods: Twenty healthy participants consumed 12 swallows consisting of graduated volumes of milk, water, pudding, and cracker in anesthetized and nonanesthetized conditions.
We report a case of a 39-year-old female with a recent diagnosis of dermatomyositis and dysphonia. Dermatomyositis is a connective tissue disease with multisystem involvement: cardiac, pulmonary, musculoskeletal, gastrointestinal, and dermatologic are the most common. While dermatomyositis affects thousands of individuals in the United States, laryngeal involvement has only been described in a single case report to date.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
November 2010
Vocal ford paralysis is a condition often seen in otolaryngologic adult and pediatric clinics. We report a case we believe to be the youngest child to undergo ansa cervicalis (ansa) to recurrent laryngeal nerve (RLN) reinnervation for unilateral vocal fold paralysis. We have included the preoperative and postoperative videostroboscopic and acoustic findings.
View Article and Find Full Text PDFObjective: Proton pump inhibitors (PPIs) are the mainstay of current medical management for laryngopharyngeal reflux, and treatment often involves long-term use of this class of medications. The long-term adverse effects of PPI use have not been studied extensively, but several analyses have demonstrated epidemiological links between PPI use and adverse outcomes. These include altered mineral and vitamin absorption, orthopedic injury, acute coronary syndromes (ACS), and infectious risks.
View Article and Find Full Text PDFMetastatic calcification (MC) commonly results secondary to phosphorus and calcium dysregulation in end-stage renal disease (ESRD). Only once before has MC been reported to involve a true vocal cord. A 35-year-old man with ESRD and secondary hyperparathyroidism was evaluated for hoarseness.
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