A rare case of pontine tegmental cap dysplasia.

Pontine Tegmental Cap Dysplasia (PTCD) is a rare hindbrain malformation characterized by cranial nerve dysfunction, cerebellar abnormalities, and developmental delays of varying severity. This case report presents a 12-month-old female with significant developmental delays, hypotonia, and cranial nerve abnormalities. The findings underscore the critical role of radiology and neuroimaging in diagnosing and managing PTCD.

Amelioration of premature aging in Werner syndrome stem cells by targeting SHIP/AKT pathway.

Background: Pathogenic or null mutations in WRN helicase is a cause of premature aging disease Werner syndrome (WS). WRN is known to protect somatic cells including adult stem cells from premature senescence. Loss of WRN in mesenchymal stem cells (MSCs) not only drives the cells to premature senescence but also significantly impairs the function of the stem cells in tissue repair or regeneration.

Liposomal Formulation of Hydroxychloroquine Can Inhibit Autophagy In Vivo.

Preclinical studies have shown that the anti-malarial drug hydroxychloroquine (HCQ) improves the anti-cancer effects of various therapeutic agents by impairing autophagy. These findings are difficult to translate in vivo as reaching an effective HCQ concentration at the tumor site for extended times is challenging. Previously, we found that free HCQ in combination with gefitinib (Iressa, ZD1839) significantly reduced tumor volume in immunocompromised mice bearing gefitinib-resistant JIMT-1 breast cancer xenografts.

A multiscale functional map of somatic mutations in cancer integrating protein structure and network topology.

A major goal of cancer biology is to understand the mechanisms driven by somatically acquired mutations. Two distinct methodologies-one analyzing mutation clustering within protein sequences and 3D structures, the other leveraging protein-protein interaction network topology-offer complementary strengths. We present NetFlow3D, a unified, end-to-end 3D structurally-informed protein interaction network propagation framework that maps the multiscale mechanistic effects of mutations.