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Recent advances in therapeutic strategies of Erdheim-Chester disease.
Naunyn Schmiedebergs Arch Pharmacol
January 2025
Department of Pharmaceutical Technology, Shree S K Patel College of Pharmaceutical Education and Research, Ganpat University, 384012, Mahesana, Gujarat, India.
Erdheim-Chester disease (ECD) is a rare form of non-LCH characterized by excessive accumulation of histiocytes in various tissues, leading to significant morbidity. The estimated prevalence of ECD is low, with fewer than 1000 cases reported globally, yet it presents considerable clinical challenges due to its heterogeneous manifestations, which include bone pain, cardiovascular complications, and neurological symptoms. Traditional treatment approaches, primarily involving corticosteroids and chemotherapy, have limitations, including inconsistent responses and significant side effects.
View Article and Find Full Text PDFA Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Mol Genet Genomic Med
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
Molecular Phosphide Complexes of Zirconium.
J Am Chem Soc
January 2025
Department of Chemistry, University of Pennsylvania, 231 S 34th St, Philadelphia, Pennsylvania 19104, United States.
Molecular Zr phosphides are extremely rare, with no examples containing a one-coordinated and terminal triple-bonded phosphorus atom. We report here an isolable and relatively stable Zr phosphide complex, [(PN)Zr≡P{μ-Na(OEt)}] (), stemming from a cyclometalated Zr-hydride, [(PN)(PN')Zr(H)] (), and NaPH. Complex is prepared from two- or one-electron reductions of precursors [(PN)ZrCl] () or metastable Zr[(PN)ZrCl], respectively.
View Article and Find Full Text PDFHighly efficient green phosphor CaLa(PO)O:Eu,Tb for white LEDs.
Dalton Trans
January 2025
School of Rare Earths, University of Science and Technology of China, Hefei 230026, P. R. China.
Although the green light emission of Tb ions can be effectively improved by utilizing energy transfer from Eu to Tb ions, obtaining phosphors with high quantum efficiency remains a major problem. Here, we have achieved a novel apatite-type structure CaLa(PO)O (CLPO) containing Eu and Tb ions. The CLPO:Eu is capable of being effectively excited by near-ultraviolet light and emits blue light at about 460 nm.
View Article and Find Full Text PDFPlatypnea-Orthodeoxia Syndrome: Manifestation of a Patent Foramen Ovale.
Cureus
December 2024
Internal Medicine, Hospital Infante D. Pedro, Aveiro, PRT.
Platypnea-orthodeoxia syndrome (POS) is a rare clinical condition characterized by dyspnea and hypoxemia during orthostatism, with relief in the supine position. The diagnosis of POS requires a high clinical suspicion, and its etiology stems from the admixture of venous blood, poor in oxygen, with arterial blood via a shunt. A patent foramen ovale (PFO) is the most commonly encountered anomaly at the root of POS.
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