Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/mdc3.14233 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rhinorrhea Recurrence After Posterior Nasal Nerve Cryoablation: A Multicenter Cohort Study.
Laryngoscope
January 2025
Department of Otolaryngology-Head and Neck Surgery, University of California Irvine, Orange, California, U.S.A.
Background: Posterior nasal nerve (PNN) cryoablation improves chronic rhinitis (CR) symptoms in 70-80% of cases, including clear thin rhinorrhea (CTR). This study's purpose was to determine time to and degree of CTR recurrence following cryoablation.
Methods: A multicenter retrospective cohort study was conducted on patients who underwent PNN cryoablation to treat CR-related CTR refractory to ipratropium bromide nasal spray (IBNS).
MYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions.
View Article and Find Full Text PDFGenetic profiling of Wilson disease reveals a potential recurrent pathogenic variant of ATP7B in the Jordanian population.
J Pediatr Gastroenterol Nutr
January 2025
Department of Pathology and Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Objectives: Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological, psychiatric, and ophthalmic manifestations.
View Article and Find Full Text PDFMultiparametric grading of glaucoma severity by histopathology can enable post-mortem substratification of disease state.
Acta Neuropathol Commun
January 2025
Ophthalmology, Novartis Biomedical Research, Cambridge, MA, USA.
Neurodegeneration in glaucoma patients is clinically identified through longitudinal assessment of structure-function changes, including intraocular pressure, cup-to-disc ratios from fundus images, and optical coherence tomography imaging of the retinal nerve fiber layer. Use of human post-mortem ocular tissue for basic research is rising in the glaucoma field, yet there are challenges in assessing disease stage and severity, since tissue donations with informed consent are often unaccompanied by detailed pre-mortem clinical information. Further, the interpretation of disease severity based solely on anatomical and morphological assessments by histology can be affected by differences in death-to-preservation time and tissue processing.
View Article and Find Full Text PDFPrediction of checkpoint inhibitor immunotherapy efficacy for cancer using routine blood tests and clinical data.
Nat Med
January 2025
Marc and Jennifer Lipschultz Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Predicting whether a patient with cancer will benefit from immune checkpoint inhibitors (ICIs) without resorting to advanced genomic or immunologic assays is an important clinical need. To address this, we developed and evaluated SCORPIO, a machine learning system that utilizes routine blood tests (complete blood count and comprehensive metabolic profile) alongside clinical characteristics from 9,745 ICI-treated patients across 21 cancer types. SCORPIO was trained on data from 1,628 patients across 17 cancer types from Memorial Sloan Kettering Cancer Center.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!