Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

Previous studies have identified several genetic loci associated with development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the Desmin, GNE, MYHC2A, VCP, and ZASP genes. All coding exons of the 5 genes were sequenced directly. Definite IBM was confirmed in 14 cases, probable IBM in 3 cases, and possible IBM in 4 cases. No cases showed missense mutations in the Desmin, GNE, or VCP genes. Three patients carried the missense mutation c.2542T>C (p.V805A) in the MYHC2A gene; immunohistochemical staining for MYHC isoforms in these 3 cases showed atrophy or loss of muscle fibers expressing MYHC IIa or IIx. One patient harbored the missense mutation c.1719G>A (p.V566M) in the ZASP gene; immunohistochemical studies of Z-band associated proteins revealed Z-band abnormalities. Both of the novel heterogeneous mutations were located in highly evolutionarily conserved domains of their respective genes. Cumulatively, these findings have expanded our understanding of the molecular background of sIBM. However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort

Guillain-Barré syndrome and Low back pain: two cases and literature review

Purpose. To describe the clinical, electrophysiological, and lumbar magnetic resonance imaging (MRI) features of two cases of atypical Guillain-Barré syndrome (GBS). Methods We reported two GBS variant cases with initial and prominent symptoms of low back pain. We analysed their clinical, electrophysiological, and lumbar MRI features. Results Two patients with GBS reported low back pain as the initial and prominent symptom, which was not accompanied by limb weakness. The electrophysiological study showed abnormal F-waves in the common peroneal and tibial nerves, and acute polyradiculoneuropathy in the cauda equina. Examination of the cerebrospinal fluid (CSF) showed albuminocytologic dissociation. Serum was positive for GQ1b-IgM antibodies. Lumbar MRI showed gadolinium enhancement of the nerve roots and cauda equina. A standard regime of intravenous immunoglobulin markedly alleviated the low back pain. Conclusions Low back pain caused by GBS should be differentiated from other diseases. This initial or early prominent symptom may delay the diagnosis of GBS; therefore, it is important to conduct a detailed electrophysiological, CSF, and gadolinium-enhanced lumbar MRI analysis

Elucidating the effects of −OH content on phase transition and Li-ion transport of anti-perovskite solid electrolytes

Anti-perovskite materials such as Li2(OH)Cl have garnered considerable interest as solid electrolytes due to their numerous advantages. However, the low ionic conductivity of the orthorhombic Li2(OH)Cl near room temperature presents a significant challenge for the application. In this study, we intricately modulate the −OH content in Li2(OH)Cl through a controlled heat treatment process. This method effectively increases the cubic phase content and lowers the phase transition temperature, thereby enhancing the ionic conductivity at 30 °C by more than an order of magnitude. Theoretical calculations illustrate that the removal of −OH content significantly reduces the barrier for phase transition, leading to substantial alterations in the Li-ion transport pathway and migration barrier. Furthermore, LiHClO-600 demonstrates exceptional resistance to lithium reduction and is compatible with lithium metal and LiFePO4, rendering it a viable solid electrolyte for batteries. Both experimental findings and theoretical calculations cohesively highlight the pivotal role of −OH content in driving phase transition and facilitating Li-ion transport in anti-perovskite solid electrolytes, paving the way for their potential utilization in all-solid-state batteries

Functional characterization of D-type cyclins involved in cell division in rice

Abstract Background D-type cyclins (CYCD) regulate the cell cycle G1/S transition and are thus closely involved in cell cycle progression. However, little is known about their functions in rice. Results We identified 14 CYCD genes in the rice genome and confirmed the presence of characteristic cyclin domains in each. The expression of the OsCYCD genes in different tissues was investigated. Most OsCYCD genes were expressed at least in one of the analyzed tissues, with varying degrees of expression. Ten OsCYCD proteins could interact with both retinoblastoma-related protein (RBR) and A-type cyclin-dependent kinases (CDKA) forming holistic complexes, while OsCYCD3;1, OsCYCD6;1, and OsCYCD7;1 bound only one component, and OsCYCD4;2 bound to neither protein. Interestingly, all OsCYCD genes except OsCYCD7;1, were able to induce tobacco pavement cells to re-enter mitosis with different efficiencies. Transgenic rice plants overexpressing OsCYCD2;2, OsCYCD6;1, and OsCYCD7;1 (which induced cell division in tobacco with high-, low-, and zero-efficiency, respectively) were created. Higher levels of cell division were observed in both the stomatal lineage and epidermal cells of the OsCYCD2;2- and OsCYCD6;1-overexpressing plants, with lower levels seen in OsCYCD7;1-overexpressing plants. Conclusions The distinct expression patterns and varying effects on the cell cycle suggest different functions for the various OsCYCD proteins. Our findings will enhance understanding of the CYCD family in rice and provide a preliminary foundation for the future functional verification of these genes