Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.20452/pamw.16578 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Mol Genet Genomics
December 2024
ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, 83 Fen Yang Road, Shanghai, 200031, China.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
View Article and Find Full Text PDFDiazocines as Guests of Cucurbituril Macrocycles: Light-Responsive Binding and Supramolecular Catalysis of Thermal Isomerization.
J Am Chem Soc
December 2024
Laboratório Associado para a Química Verde (LAQV), Rede de Química e Tecnologia (REQUIMTE), Departamento de Química, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2829-516 Caparica, Portugal.
The photoswitching of supramolecular host-guest complexes is the basis of numerous molecularly controlled macroscopic functions, such as sol-gel transition, photopharmacology, the active transport of ions or molecules, light-powered molecular machines, and much more. The most commonly used systems employ photoactive azobenzene guests and synthetic host molecules, which bind as the stable isomers and dissociate as the forms after exposure to UV light. We present a new, extraordinarily efficient cucurbit[7]uril (CB7)/diazocine host/guest complex with inverted stability that self-assembles under UV irradiation and dissociates in the dark.
View Article and Find Full Text PDFAmong the Masses: Multiple Left Atrial Undifferentiated Pleomorphic Sarcomas.
Ochsner J
January 2024
Division of Cardiology, Baylor Scott & White Medical Center, Temple, TX.
Undifferentiated pleomorphic sarcoma, an exceedingly rare and aggressive primary cardiac tumor arising from mesenchymal stem cells, is associated with poor prognosis and high mortality despite adequate treatment. A 52-year-old female presented with a 2-month history of angina and dyspnea on exertion. Her clinical history included severe acute respiratory syndrome coronavirus 2 myocarditis and iron deficiency anemia.
View Article and Find Full Text PDFWaldenström Macroglobulinemia-Induced Cardiac Amyloid Light Chain Amyloidosis.
Ochsner J
January 2024
Division of Cardiology, Baylor Scott & White Medical Center, Temple, TX.
Waldenström macroglobulinemia is a rare cancer of plasma cells characterized by the excessive production of immunoglobulin M (IgM). IgM-associated systemic amyloid light chain (AL) amyloidosis is a rare complication of Waldenström macroglobulinemia, characterized by the misfolding of lambda light chains that deposit in various organs, including the heart. We describe a case of progressive nonischemic cardiomyopathy secondary to Waldenström macroglobulinemia and IgM-associated AL amyloidosis that was refractory to medical therapy and highlight the challenges in diagnosis and management.
View Article and Find Full Text PDFTrident Sign: The Key Magnetic Resonance Imaging Finding Distinguishing Spinal Cord Sarcoidosis From Multiple Sclerosis and Seropositive Neuromyelitis Optica Spectrum Disorder.
Ochsner J
January 2024
The University of Queensland Medical School, Ochsner Clinical School, New Orleans, LA.
Spinal cord sarcoidosis, an uncommon manifestation of neurosarcoidosis, presents diagnostic and therapeutic challenges because the condition is rare and has diverse clinical manifestations that can mimic other conditions such as multiple sclerosis and neuromyelitis optica spectrum disorder. A middle-aged African American female with a history of idiopathic intracranial hypertension and hydrocephalus with ventriculoperitoneal shunt presented with progressive, predominantly left-sided gait instability, weakness, and paresthesia. Cerebrospinal fluid showed lymphocytosis, red blood cells, elevated oligoclonal bands, and elevated kappa free light chains, concerning for multiple sclerosis.
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!