Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia.

Cardiac arrhythmia is currently considered to be the direct cause of death in a majority of sudden unexplained death (SUD) cases, yet the genetic predisposition and corresponding endophenotypes contributing to SUD remain incompletely understood. In this study, we aimed to investigate the involvement of Coenzyme Q (CoQ) deficiency in SUD. First, we re-analyzed the exome sequencing data of 45 SUD and 151 sudden infant death syndrome (SIDS) cases from our previous studies, focusing on previously overlooked genetic variants in 44 human CoQ deficiency-related genes. A considerable proportion of the SUD (38%) and SIDS (37%) cases were found to harbor rare variants with likely functional effects. Subsequent burden testing, including all rare exonic and untranslated region variants identified in our case cohorts, further confirmed the existence of significant genetic burden. Based on the genetic findings, the influence of CoQ deficiency on electrophysiological and morphological properties was further examined in a mouse model. A significantly prolonged PR interval and an increased occurrence of atrioventricular block were observed in the 4-nitrobenzoate induced CoQ deficiency mouse group, suggesting that CoQ deficiency may predispose individuals to sudden death through an increased risk of cardiac arrhythmia. Overall, our findings suggest that CoQ deficiency-related genes should also be considered in the molecular autopsy of SUD.

Preparation of tomato peel pomace powder/polylactic acid foams under supercritical CO2 conditions: Improvements in cell structure and foaming behavior.

Polylactic acid (PLA) is an eco-friendly material that can help address the problems of petroleum depletion and pollution. Blending renewable biomass materials with PLA to create composite foams with a tunable pore structure, superior performance, and low cost is a green technique for improving the pore structure and mechanical characteristics of single PLA foams. PLA/TP composites were created using melted tomato peel pomace powder (TP), which has a lamellar structure, as a reinforcing agent. Then, the relationship between the vesicle structure, morphology, and properties of the PLA/TP composite foams produced through supercritical CO2 intermittent foaming were investigated. The findings revealed that TP considerably enhanced the rheological characteristics and crystalline behavior of PLA. The PLA/TP composite foam had a better cell structure, compression characteristics, and wettability than pure PLA. The expansion ratio of the PLA/TP composite could reach 18.8, and its thermal conductivity decreased from 174.2 mW/m·K at 100 °C to 57.8 mW/m·K at 120 °C. Furthermore, annealing before foaming decreased the average composite foam blister size from 110.09 to 66.53 µm, and the annealing process also improved compression performance. This study contributes to solving environmental difficulties and creating PLA foams with controlled bubble structures, uniform bubble sizes, and outstanding overall performance.

Composites made of Ginkgo biloba fibers and polylactic acid exhibit non-isothermal crystallization kinetics.

Polymer crystallization affects material microstructure and the final product quality, and the crystallization kinetics that govern this process are critical. In this study, alkali-treated Ginkgo biloba fibers (GFs) were melt blended with polylactic acid (PLA) to obtain GF/PLA blends. The non-isothermal crystallization kinetics of the GF/PLA composites were subsequently investigated using the Avrami, Jeziorny, Ozawa, and Liu-Mo methods, and the crystallization activation energies of the systems were calculated by Kissinger and Friedman models. The results showed that the GFs significantly promoted PLA crystallization, accelerated the crystallization rate, and shortened the crystallization time. The Avrami method showed some deviation from the linear relationship due to the effect of secondary crystallization, while the numeric value obtained by the Jeziorny method increased with the cooling rate. The Ozawa method could only be used in a very narrow range of temperatures, while the Liu-Mo method showed a more desirable fit. Crystallization activation energy calculations showed that the GFs promoted an increase in the crystallization capacity of the blend and a decrease in the effective potential barrier. This resulted in more selective biocomposites than pure PLA, offering greater applicability in domains including tissue engineering and 3D printing.

Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study.

Sudden unexplained death (SUD) constitutes a considerable portion of unexpected sudden death in the young. Molecular autopsy has proved to be an efficient diagnostic tool in the multidisciplinary management of SUD. Yet, many cases remain undiagnosed using the widely adopted targeted genetic screening strategies. Here, we investigated the genetic substrates of a young SUD cohort (18-40 years old) from China using whole-exome sequencing (WES), with the primary aim to identify novel SUD susceptibility genes. Within 255 previously acknowledged SUD-associated genes, 21 variants with likely functional effects (pathogenic/likely pathogenic) were identified in 51.9% of the SUD cases. More importantly, a set of 33 candidate genes associated with myopathy were identified to be novel susceptibility genes for SUD. Comparative analysis of the cumulative PHRED-scaled CADD score and polygenetic burden score showed that the amount and deleteriousness of variants in the 255 SUD-associated genes and the 33 candidate genes identified by this study were significantly higher compared with 289 randomly selected genes. A significantly higher genetic burden of rare variants (MAF < 0.1%) in the 33 candidate genes also highlighted putative roles of these genes in SUD. After incorporating these novel genes, the genetic testing yields of the current SUD cohort elevated from 51.9 to 66.7%. Our study expands understanding of the genetic variants underlying SUD and presents insights that improve the utility of genetic screenings.

Crystallinity, Rheology, and Mechanical Properties of Low-/High-Molecular-Weight PLA Blended Systems.

As semi-crystalline polyester (lactic acid) (PLA) is combined with other reinforcing materials, challenges such as phase separation, environmental pollution, and manufacturing difficulties could hinder the benefits of PLA, including complete biodegradability and strong mechanical properties. In the present investigation, melt blending is utilized to establish a mixture of low- and high-molecular-weight polylactic acids (LPLA and HPLA). The crystallinity, rheology, and mechanical properties of the combination were analyzed using rotational rheometry, differential scanning calorimetry, X-ray diffraction, polarized optical microscopy, scanning electron microscopy, and universal testing equipment. The results demonstrate compatibility between LPLA and HPLA. Moreover, an increase in LPLA concentration leads to a decrease in the crystallization rate, spherulite size, fractional crystallinity, and XRD peak intensity during isothermal crystallization. LPLA acts as a diluent during isothermal crystallization, whereas HPLA functions as a nucleating agent in the non-isothermal crystallization process, promoting the growth of LPLA crystals and leading to co-crystallization. The blended system with a 5% LPLA mass fraction exhibits the highest tensile strength and enhances rheological characteristics. By effectively leveraging the relationship between various molecular weights of PLA's mechanical, rheological, and crystallization behavior, this scrutiny improves the physical and mechanical characteristics of the material, opening up new opportunities.

[Effect of suspension exercise training on motor and balance functions in children with spastic cerebral palsy].

OBJECTIVE: To study the effect of suspension exercise training on motor and balance functions in children with spastic cerebral palsy. METHODS: A total of 97 children with spastic cerebral palsy were randomly divided into an observation group with 49 children and a control group with 48 children. Both groups were given routine rehabilitation training, and the children in the observation group were given suspension exercise training in addition. The scores of the D and E domains of the 88-item version of the Gross Motor Function Measure (GMFM-88) and Berg Balance Scale (BBS) were recorded before treatment and at 1, 3, and 6 months after treatment. Surface electromyography was performed to observe the changes in the root mean square (RMS) of surface electromyogram signals of the adductor muscle and the gastrocnemius muscle. RESULTS: Over the time of treatment, both groups had varying degrees of improvement in the scores of the D and E domains of GMFM-88 and BBS. Compared with the control group, the observation group had significantly greater improvements in D and E functional areas and balance function (P<0.05). Both groups had reductions in the RMS of the surface electromyogram signals of the adductor muscle and the gastrocnemius muscle over the time of treatment, and the observation group had significantly greater reductions than the control group (P<0.05). CONCLUSIONS: Suspension exercise training can effectively improve the motor and balance functions of children with spastic cerebral palsy.

Synthesis of LiMnPO4 porous plates in mixed solvents system.

0.6 to 7.5 microm LiMnPO4 porous plates with pore sizes from 100 to 150 nm were successfully synthesized in mixed solvents of ethylene glycol and distilled water. By changing stirring time, different morphologies of LiMnPO4 were prepared. Porous plates with the percentages of more than 70%, more than 50% and 25% porous ones were formed in sequence. The according rest parts were particles, less than 40% solid plates and 25% solid ones, respectively. Stirring time is the key cause influencing the nucleation rate and diffusion rate of the initial formed growth units of LiMnPO4. Through adjusting the factor, chemicals with specific morphology can be obtained in mixed solvents. The phase composition and microstructure were investigated by X-ray diffraction (XRD) and transmission electron microscopy (TEM), respectively. This synthetic route provides us a new idea to prepare new structure materials.

Synthesis of porous ZnO in mixed solvents system.

Three porous structures of ZnO were successfully synthesized in mixed solvents of ethylene glycol and distilled water. By adjusting ratios of ethylene glycol and distilled water, ZnO morphologies changed. Small porous plates with different sizes, folded porous plates with well-proportioned pores, heavily folded porous plates and solid flowers without pores emerged in sequence. The mechanism of the synthetic process was discussed. The morphologies and microstructures were investigated by transmission electron microscopy (TEM). The phase composition was verified by X-ray diffraction (XRD). This synthetic route provides a new idea to prepare other new structure materials.