Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII.

Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sensory impairment. Presently, there is limited literature on this condition, and accurate epidemiological data regarding its incidence remains unavailable. We report a paediatric case of distal hereditary motor, type VIII that is caused by a heterozygous missense mutation in the TRPV4 gene (NM_021625): c.805C>T. The proband is a 7-year-old male child. During pregnancy, his mother had prenatal ultrasound revealing "inward turning of the feet", a condition persisting after birth. The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Although possessing normal cognitive function, he cannot walk unaided. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot. The patient underwent familial exome sequencing, revealing a mutation in the TRPV4 gene (NM_021625): c.805C>T (p.Arg269Cys). Considering the patient's medical history, clinical manifestations, imaging studies, and genetic test results, the diagnosis for this individual is Neuronopathy, distal hereditary motor, type VIII. This report documents a case involving the TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII, contributing valuable case reference for the early diagnosis of this condition.

Free-Standing SnO2@rGO Anode via the Anti-solvent-assisted Precipitation for Superior Lithium Storage Performance.

Metal oxides have been attractive as high-capacity anode materials for lithium-ion batteries. However, oxide anodes encounter drastic volumetric changes during lithium ion storage through the conversion reaction and alloying/dealloying processes, leading to rapid capacity decay and poor cycling stability. Here, we report a free-standing SnO2@reduced graphene oxide (SnO2@rGO) composite anode, in which SnO2 nanoparticles are tightly wrapped within wrinkled rGO sheets. The SnO2@rGO sheet is assembled in high porosity via an anti-solvent-assisted precipitation of dispersed SnO2 nanoparticles and graphene oxide sheets in the distilled water, followed by the filtration and post-annealing processes. Significantly enhanced lithium storage performance has been obtained of the SnO2@rGO anode compared with the bare SnO2 anode material. A high charge capacity above 700 mAh g-1 can be achieved with a satisfying 95.6% retention after 50 cycles at a current density of 500 mA g-1, superior to reserved 126 mAh g-1 and a much lower 16.8% retention of the bare SnO2 anode. XRD pattern and HRTEM images of the cycled SnO2@rGO anode material verify the expected oxidation of Sn to SnO2 at the fully-charged state in the 50th cycle. In addition, FESEM and TEM images reveal the well-preserved free-standing structure after cycling, which accounts for high reversible capacity and excellent cycling stability of such a SnO2@rGO anode. This work provides a promising SnO2-based anode for high-capacity lithium-ion batteries, together with an effective fabrication adoptable to prepare different free-standing composite materials for device applications.

Twist may be associated with invasion and metastasis of hypoxic NSCLC cells.

Hypoxia promotes tumor invasion and metastasis via multiple mechanisms, including epithelial-mesenchymal transition (EMT). Twist, an EMT regulator, has been disclosed to associate with invasion and metastasis as well as poor prognosis of many malignancies. However, it remains undefined whether Twist is involved in invasion and metastasis of hypoxic non-small cell lung cancer (NSCLC). In this study, protein levels of Twist, hypoxia-inducible factor-1α (HIF-1α), and EMT markers (E-cadherin and vimentin) were examined by immunohistochemistry in 76 lung cancer tissues from NSCLC patients. Expression of Twist and its correlation with HIF-1α, E-cadherin, and vimentin were analyzed. Small interfering RNA (siRNA) against Twist was used to knockdown Twist expression in hypoxic NSCLC cells, A549 and NCI-H460. Cellular invasion and protein levels of Twist, E-cadherin, and vimentin were evaluated by matrigel invasion assay and Western blot, respectively. Our results showed that in clinical samples, there was a significant association between Twist expression and differentiation degree, lymph node metastasis, and TNM stage. Correlation analysis demonstrated that expression of Twist was negatively correlated with E-cadherin expression, but positively associated with HIF-1α and vimentin expression. In cultured NSCLC cells, Twist messenger RNA (mRNA) and protein levels were upregulated under hypoxia, while knockdown of Twist suppressed potentiated invasion and expression of mesenchymal marker vimentin induced by hypoxia. Protein level of increased epithelial marker E-cadherin was shown along with Twist downregulation. These findings suggest that Twist promoting hypoxic invasion and metastasis of NSCLC may be associated with altered expression of EMT markers. Inhibition of Twist may be of therapeutic significance.

Genotypic differences in arsenic, mercury, lead and cadmium in milled rice (Oryza sativa L.).

The contents of arsenic, mercury, lead and cadmium in milled rice were determined. Among 216 genotypes, the As, Hg, Pb and Cd contents were ranged from 5.06 to 296.45, 2.46 to 65.85, 4.16 to 744.95 and 5.91 to 553.40 ng/g, respectively. Six genotypes with lower contents of toxic metal elements were selected. The averages of As and Pb contents for indica rice were higher than those of japonica rice, while the averages of Hg and Cd contents were in contrast. Compared with white brown rice, the milled rice from black and red brown rice contained lower contents of four elements. Significant negative correlation was found between As content and alkaline spread value. Significant correlations were observed between As and aspartic acid (Asp) content, Hg and Asp or leucine contents, Pb and cysteine or methionine contents. Cd content was significantly negatively correlated with protein and 14 amino acid contents.

Studies on mineral nutrition and safety of wild rice (Oryza L.).

Mineral element contents of five wild rice were analyzed, including mineral nutrient elements such as phosphorus (P), potassium (K), calcium (Ca), sodium (Na), magnesium (Mg), iron (Fe), zinc (Zn), copper (Cu), manganese (Mn) and selenium (Se), and the potential toxic elements arsenic (As), mercury (Hg), lead (Pb) and cadmium (Cd). The results showed that the contents of K, Mg, Fe, Zn, Cu, Mn and Se in five wild rice materials were much higher than the cultivate variety Zhou 903 in both brown and milled rice. Wild rice also had lower potential toxic element contents of Hg, Pb and Cd compared with Zhou 903 in brown rice and milled rice, respectively. Among five wild rice samples, WR-3 from Uganda had the highest level of P, K, Ca, Na, Mg, Fe, Zn, Mn and Se, and the lowest contents of Hg, Pb and Cd.