Patients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.Genet Med 18 9, 940-948.

The spinal cord is extremely vulnerable to ischemia-reperfusion (I/R) injury, and the mitochondrion is the most crucial interventional target. Rapamycin can promote autophagy and exert neuroprotective effects in several diseases of the central nervous system. However, the impact of rapamycin via modulating mitophagy and apoptosis after spinal cord ischemia-reperfusion injury remains unclear. This study was undertaken to investigate the potential role of rapamycin in modulating mitophagy and mitochondria-dependent apoptosis using the spinal cord ischemia-reperfusion injury (SCIRI) mouse model. We found that rapamycin significantly (p < 0.05) enhanced mitophagy by increasing the translocation of p62 and Parkin to the damaged mitochondria in the mouse spinal cord injury model. At the same time, rapamycin significantly (p < 0.05) decreased mitochondrial apoptosis related protein (Apaf-1, Caspase-3, Caspase-9) expression by inhibiting Bax translocation to the mitochondria and the release of the cytochrome c from the mitochondria. After 24 h following SCIRI, rapamycin treatment reduced the TUNEL+ cells in the spinal cord ischemic tissue and improved the locomotor function in these mice. Our results therefore demonstrate that rapamycin can improve the locomotor function by promoting mitophagy and attenuating SCIRI -induced apoptosis, indicating its potential therapeutic application in a spinal cord injury.

Aims: The study aimed to compare the frequency of neuropsychiatric symptoms (NPS) across the declining memory continuum, from normal aging, subjective cognitive impairment (SCI), and mild cognitive impairment (MCI) to Alzheimer’s disease (AD), and to explore the clinical correlates of NPS. Method: In a memory clinic, 157 subjects (46 mild AD patients, 38 MCI individuals, 24 SCI subjects, and 49 normal controls) completed the neurobehavioral assessments with the Neuropsychiatric Inventory (NPI). The clinical significance of each NPI domain was defined as an item score ≥4. Result: Clinically significant depression was more common in the SCI than in the normal control group (p < 0.05). The frequency of NPS was significantly greater in the mild AD group compared to other groups. Clinically significant apathy and aberrant motor behavior were more common among the AD group than the MCI group (p < 0.05). The MMSE score (OR 4.84, 95% CI 1.92–12.16, p = 0.001) and apathy (OR 12.73, 95% CI 1.48–109.68, p = 0.021) significantly determined the diagnostic status as MCI or mild AD. Conclusion: Across the declining memory continuum, the frequency of NPS was highest among mild AD patients. Depression, apathy, and aberrant motor behavior deserve more attention. Presence of apathy might be an independent determinant for mild AD.

This paper investigates the task assignment and path planning problem for multiple AUVs in three dimensional (3D) underwater wireless sensor networks where nonholonomic motion constraints of underwater AUVs in 3D space are considered. The multi-target task assignment and path planning problem is modeled by the Multiple Traveling Sales Person (MTSP) problem and the Genetic Algorithm (GA) is used to solve the MTSP problem with Euclidean distance as the cost function and the Tour Hop Balance (THB) or Tour Length Balance (TLB) constraints as the stop criterion. The resulting tour sequences are mapped to 2D Dubins curves in the X−Y plane, and then interpolated linearly to obtain the Z coordinates. We demonstrate that the linear interpolation fails to achieve G1 continuity in the 3D Dubins path for multiple targets. Therefore, the interpolated 3D Dubins curves are checked against the AUV dynamics constraint and the ones satisfying the constraint are accepted to finalize the 3D Dubins curve selection. Simulation results demonstrate that the integration of the 3D Dubins curve with the MTSP model is successful and effective for solving the 3D target assignment and path planning problem.

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Vine tea has been used as an herbal tea by several ethnic minorities for hundreds of years in China. Flavonoids, a kind of indispensable component in a variety of nutraceutical, pharmaceutical and cosmetic applications, are identified to be the major metabolites and bioactive ingredients in vine tea. Interestingly, vine tea exhibits a wide range of significant bioactivities including anti-oxidant, anti-inflammatory, anti-tumor, antidiabetic, neuroprotective and other activities, but no toxicity. These bioactivities, to some extent, enrich the understanding about the role of vine tea in disease prevention and therapy. The health benefits of vine tea, particularly dihydromyricetin and myricetin, are widely investigated. However, there is currently no comprehensive review available on vine tea. Therefore, this report summarizes the most recent studies investigating bioactive constituents, pharmacological effects and possible mechanisms of vine tea, which will provide a better understanding about the health benefits and preclinical assessment of novel application of vine tea.

Background Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn‐around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively assess the necessity of validating NGS variants. Methods Validation data of 7,601 NGS variants involving 1,045 genes were collected from 5,190 clinical samples and sequenced by one of five targeted capture panels and two NGS chemistries, respectively. These genes and variants were widely distributed in 24 human chromosomes and mitochondrial genome. Variants validation was firstly processed by Sanger sequencing. If validation results were unavailable or inconsistent with NGS calls, another validation test would be performed by mass spectrometry genotyping. Results A total of 6,939 high quality NGS variants with ≥35 × depth coverage and ≥35% heterozygous ratio were 100% confirmed by a secondary methodology. 5,775 heterozygous variants were separated from 760 homozygous variants and 404 hemizygous variants by 80% heterozygous ratio. A total of 1.5% (98/6,939) of NGS variants were validated by mass spectrometry genotyping. Conclusion Considering of the above comprehensive assessment, a new variant with high quality from a well‐validated capture‐based NGS workflow can be reported directly without validation.