CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S)

For the first time, we established a risk prediction model for mitochondrial oxidative stress in patients with LIHC. MMP1 has the potential to function as a promising biomarker in LIHC.

Next, studies of disease-modifying or potential disease-modifying therapies for inherited myopathies are addressed including the encouraging follow-up study of gene replacement therapy for Duchenne muscular dystrophy (DMD), a negative trial of tamoxifen in DMD, and the complex topic of gene therapy for X-linked myotubular myopathy...Other papers regarding GNE myopathy and long-term outcome of enzyme replacement therapy in infantile onset Pompe disease round out that section. Updates on the expanding spectra of anoctamin-5 myopathies, caveolinopathies, and congenital and mylagic myopathies from CACNA1S mutations follow as well as extensive discussion of Valosin containing protein proteinopathies, comprehensive management of Becker muscular dystrophy, and gastrointestinal complications in adult DMD.

Secondary metabolites of Trichoderma (ThCF) have cytotoxic activity against LS-174T (colorectal cancer cell line) and anxiolytic-like activity through a GABAergic mechanism of action and an increase in GABA as inhibitory amino acid in the selected brain regions and reduced levels of NMDA and DOPA. The present data suggested that ThCF may inhibit intracellular calcium accumulation by triggering the NAADP-mediated Ca signaling pathway. Therefore, the present results suggested further studies on the molecular pathway for each metabolite of ThCF, e.g., 6-pentyl-α-pyrone (6-PP), harzianic acid (HA), and hydrophobin, as an alternative drug to mitigate the side effects of AEDs.

MANs are rare tumors, but due to the aging of population their incidence is increasing. Their clinical presentation is unspecific, which makes the diagnosis challenging. Histopathological assessment is difficult even for experienced pathologists. Mohs micrographic surgery or wide local excision are recommended to treat primary lesions. Adjuvant radiotherapy may be beneficial in case of insufficient or positive surgical margins, in nodal metastases, in selected types of MANs like sebaceous, trichilemmal, and pilomatrix carcinomas, and as the induction treatment in large tumors located in medically fragile or cosmetically important regions. The role of chemotherapy is not well defined; however, it is recommended in distant metastases. Immunotherapy can improve the prognosis in advanced stage of the disease.

The four genes of the calcium signaling pathway were upregulated in MAC at both RNA and protein levels. CACNA1S, ATP2A1, RYR1, and MYLK3 may be new diagnostic molecular markers and therapeutic targets for MAC.

The results obtained show a high prevalence of clinically actionable variants, both common, i.e., previously described in the  literature, and rare, i.e., not previously studied with conventional technological  approaches. The latter are candidates for a more exhaustive  molecular and/or clinical characterization.

Neoadjuvant docetaxel and carboplatin resulted in a pCR of 45.7%. WES and immune profiling differentiated patients with and without pCR.