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Function: require_once
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http://dx.doi.org/10.4274/tjh.2017.0445 | DOI Listing |
Clin Transl Oncol
December 2024
Department of Medical Oncology, Senior Department of Oncology, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
Purpose: The clinicopathologic features, mutational status, immunohistochemical markers, and prognosis of Pulmonary sarcomatoid carcinoma (PSC) remain uncertain.
Methods: This study included 81 PSC and 337 lung adenocarcinomas (LUAD). Progression-free survival (PFS), overall survival (OS), and other clinical data were examined.
Mol Genet Metab Rep
December 2024
National Lung Hospital, 463 Hoang Hoa Tham, Ba Dinh, Hanoi, Viet Nam.
Introduction: Carnitine Palmitoyltransferase II (CPT II) deficiency encompasses a spectrum of disorders, with the lethal neonatal form (LNF) representing the rarest and most severe. While there are numerous gene variants that can cause CPT II deficiency, only 16 variants of these are known to be associated with LNF. This report presents the case of a neonatal male diagnosed with lethal CPT II deficiency, characterized by the presence of two heterogeneous variants.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Mutations in the recombination-activating gene 1, a pivotal component essential for V(D)J recombination and the formation of T- and B-cell receptors, can result in autoimmune hemolytic anemia, a rare hematological condition characterized by the autoantibody-mediated destruction of red blood cells. Herein, we report the case of a 1-year-and-4-month-old girl who presented with progressively aggravated anemia, fever, and cough. Autoimmune hemolytic anemia was confirmed by bone marrow aspiration and Coombs test.
View Article and Find Full Text PDFThe advent of poly(ADP-ribose) polymerase (PARP) inhibitors has resulted in a significant paradigm shift in ovarian cancer treatment. Niraparib, a potent PARP inhibitor, has demonstrated substantial efficacy in both first-line and recurrent disease settings. By targeting homologous recombination DNA repair, a pathway frequently disrupted in ovarian cancer, particularly in the context of BRCA mutations, niraparib induces synthetic lethality.
View Article and Find Full Text PDFFront Mol Neurosci
December 2024
Axonis Therapeutics Inc., Boston, MA, United States.
KCC2 is CNS neuron-specific chloride extruder, essential for the establishment and maintenance of the transmembrane chloride gradient, thereby enabling synaptic inhibition within the CNS. Herein, we highlight KCC2 hypofunction as a fundamental and conserved pathology contributing to neuronal circuit excitation/inhibition (E/I) imbalances that underly epilepsies, chronic pain, neuro-developmental/-traumatic/-degenerative/-psychiatric disorders. Indeed, downstream of both acquired and genetic factors, multiple pathologies (e.
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