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Short tandem repeat (STR) is a component of the human genome, the number of repeats of STR is prone to change during DNA replication, and when it exceeds a certain threshold, it will lead to the occurrence of diseases, most of which involve the nervous system. With the rapid development and wide application of the third generation long read long sequencing technology, more and more neuromuscular diseases have been confirmed to be related to STR variation. This article reviews the clinical and mechanism research progress on STR‑related neuromuscular diseases, so as to provide guidance for clinical research. more...

Objective To investigate the sleep structure and autonomic nervous function of patients with chronic insomnia combined with obstructive sleep apnea (OSA) and analyze their correlation with neuropsychological characteristics. Methods A total of 91 patients with chronic insomnia admitted to Tianjin Medical University General Hospital and Airpot Hospital from September 2019 to June 2021 were included. They were divided into simple chronic insomnia group (insomnia group, n = 46) and chronic insomnia combined with OSA group (comorbidity group, n = 45) according to whether combined with OSA. And 22 volunteers matched in sex, age and education were recruited as the control group. Sleep structure and autonomic nervous function were analyzed by PSM⁃100A sleep breathing monitoring. Subjective sleep quality was assessed by Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS) and Insomnia Severity Index (ISI). Meanwhile, neuropsychological tests were performed. Results 1) Sleep structure: total sleep time (TST; P = 0.003, 0.002), sleep efficiency (P = 0.000, 0.019), proportion of rapid eye movement (REM; P = 0.000, 0.015), mean arterial oxygen saturation (SaO2; P = 0.000, 0.000), minimum SaO2 (P = 0.000, 0.019) in the comorbidity group were lower than those in control group and insomnia group; while the wake times (P = 0.028, 0.033) and sleep apnea hypopnea index (AHI; P = 0.000, 0.000) were higher than those in control group and insomnia group. 2) Autonomic nervous function: the low frequency coupling (LFC; P = 0.000, 0.006) and LFC/high frequency coupling (HFC) ratio (P = 0.000, 0.009) in comorbidity group and insomnia group were higher than those in control group, while HFC (P = 0.000, 0.006) and PNN50 (P = 0.000, 0.047) were lower than those in control group. 3) Neuropsychological test: the comorbidity group had a lower Mini⁃Mental State Examination (MMSE) score than the control group (P = 0.000) and insomnia group (P = 0.002), and the insomnia group had a lower MMSE score than the control group (P = 0.008). In terms of memory, Auditory Verbal Learning Test (AVLT)⁃short delayed recall, long delayed recall and recognition score were lower in the comorbidity group than those in the control group (P = 0.004, 0.000, 0.000) and insomnia group (P = 0.017, 0.000, 0.000). The AVLT⁃immediate recall score in comorbidity group was lower than that in control group (P = 0.000), and the AVLT⁃immediate recall, long delayed recall and recognition score in insomnia group was lower than those in control group (P = 0.035, 0.005, 0.020). In terms of visuospatial ability, the correct number of Benton's Judgment of Line Orientation (JLO) was less in comorbidity group than in control group (P = 0.000) and insomnia group (P = 0.000), and the correct number of JLO in insomnia group was less than that in control group (P = 0.017). In terms of attention, the number of correct number of Digit Span Test (DST) backward, DST downback and Symbol Digit Modalities Test (SDMT) in comorbidity group was less than that in control group (P = 0.000, 0.000, 0.000) and insomnia group (P = 0.000, 0.000, 0.003). The correct number of DST backward and SDMT in insomnia group was less than those in control group (P = 0.003, 0.003). In terms of executive function, the correct numbers of Stroop Color⁃Word Test (SCWT)⁃A, SCWT⁃B and SCWT⁃C in the comorbidity group were less than those in the control group (P = 0.000, 0.000, 0.000) and insomnia group (P = 0.004, 0.025, 0.044). The correct numbers of SCWT⁃A, SCWT⁃B and SCWT⁃C in insomnia group were less than those in control group (P = 0.003, 0.007, 0.011). In terms of anxiety and depression, the scores of Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale (HAMD) in the comorbidity group were higher than those in control group (P = 0.000, 0.000) and insomnia group (P = 0.000, 0.000), and the scores of HAMA and HAMD in insomnia group were also higher than those in control group (P = 0.000, 0.000). 4) The correlation of sleep structure and autonomic nervous function with neuropsy hological characteristics: the TST in comorborbity group was positively correlated with the correct number of DST downback (r = 0.325, P = 0.031); the proportion of REM was positively correlated with AVLT⁃immediate recall (r = 0.302, P = 0.047), short delayed recall (r = 0.299, P = 0.049), long delayed recall (r = 0.480, P = 0.001) score, and the correct number of SCWT⁃A (r = 0.311, P = 0.040). AHI was negatively correlated with JLO (r = ⁃ 0.432, P = 0.003), the correct number of DST downback (r = ⁃ 0.370, P = 0.013), SDMT (r = ⁃ 0.449, P = 0.002), and positively correlated with HAMA (r = 0.407, P = 0.006) and HAMD (r = 0.446, P = 0.013) score. The average SaO2 was positively correlated with the correct number of DST (r = 0.397, P = 0.008), and negatively correlated with HAMA (r = ⁃ 0.370, P = 0.013) and HAMD (r = ⁃ 0.351, P = 0.020) score. The minimum SaO2 was positively correlated with the correct number of JLO (r = 0.473, P = 0.001). LFC was positively correlated with HAMA (r = 0.428, P = 0.004) and HAMD (r = 0.337, P = 0.025) score. HFC was negatively correlated with HAMA (r = ⁃ 0.428, P = 0.004) and HAMD (r = ⁃ 0.337, P = 0.025) score. The LFC/HFC ratio was positively correlated with HAMA (r = 0.415, P = 0.005) and HAMD (r = 0.308, P = 0.042) score. Conclusions Patients with chronic insomnia combined with OSA have disturbed sleep structure, autonomic imbalance and cognitive decompensation, and disturbed sleep structure and autonomic nervous function may be potential mechanisms for cognitive decompensation and mood abnormalities. more...

Objective To summarize the clinical, imaging and genetic characteristics of spinocerebellar ataxia 2 (SCA2) families presenting as Parkinsonism. Methods and Results Two families with autosomal dominant SCA2 with Parkinson's syndrome diagnosed by genetic test in Peking University First Hospital from May 2019 to December 2020 were included. The probands in 2 families manifested as lead⁃pipe like rigidity and cerebellum ataxia. Electronystagmography (ENG) in proband of family 1 showed gaze nystagmus, understable saccade, decreased smooth tracking ability and disappeared optokinetic nystagmus, proband of family 2 showed slow saccade, decreased smooth tracking ability and decreased optokinetic nystagmus. Head MRI in both probands of 2 families showed slightly enlarged third ventricle, while the proband of family 2 showed atrophy in brain stem and cerebellar. Whole exome sequencing (WES) in 2 probands showed no gene mutations, Sanger sequencing showed dynamic mutation of ATXN2 gene and the copy number of cytosine⁃adenine⁃guanine (CAG) with 37 repeats. Two probands were finally diagnosed as SCA2, and two pedigrees were diagnosed as SCA2 pedigrees. Conclusions SCA2 can present as Parkinsonism, which is easily to be misdiagnosed as Parkinson's disease due to the effective treatment of levodopa. ENG is helpful in detecting subclinical cerebellar lesions. For Parkinsonism patients with family history, especially when cerebellar lesions are involved, ATXN2 gene testing is recommended. more...

Essential tremor (ET) is a common movement disorder. The phenomenon of familial aggregation suggests genetic factors play important role in its etiology. With the rapid development and wide application of gene sequencing technologies, more and more essential tremor related pathogenic genes and risk/protective genes have been discovered. The express location and cell function of different genes also laid a foundation for the study of the mechanism of essential tremor. In this study, the progress of genes related to essential tremor are reviewed to provide guidance for clinical research. more...

Compared with general data fusion algorithms that fuse different space characteristics of data generated at the same time, a time series based node level data fusion algorithm constrained by real time management was proposed to study the different time features of the same space in industrial WSNs, which can meet real time management and is a ef- ficient management way to these requirements. Theoretical analysis and experiments show that it has decreased the time of sending data, reduced 28% of the energy consumption, extended the network lifecycle, and saved the communication bandwidth. more...

An efficient new method has been developed for the synthesis of ketone‐integrated cyclopentene‐fused indoline derivatives with a high regioselectivity through gold‐catalyzed oxidative cyclo‐coupling of 1,3‐enynes with indoles by using 2,6‐dichloropyridine N‐oxide as the terminal oxidant. A plausible mechanism has been proposed, in which, a cascade process of nucleophilic trapping of the vinyl gold carbene surrogate with indole followed by the subsequent intramolecular cyclization provides the dearomative formal [3+2] cycloaddition product. In addition, a scale‐up reaction and further derivation via cyclopentene's epoxidation & hydrazone derivative's 1,5‐ electrocyclization have been performed. [ABSTRACT FROM AUTHOR] more...

Tislelizumab, an anti‐programmed cell death protein 1 monoclonal antibody, has demonstrated improved survival benefits over standard of care for multiple cancer indications. We present the clinical rationale and data supporting tislelizumab dose recommendation in patients with advanced tumors. The phase I, first‐in‐human, dose‐finding BGB‐A317‐001 study (data cutoff [DCO]: August 2017) examined the following tislelizumab dosing regimens: 0.5–10 mg/kg every 2 weeks (q2w), 2–5 mg/kg q2w or q3w, and 200 mg q3w. Similar objective response rates (ORRs) were reported in the 2 and 5 mg/kg q2w or q3w cohorts. Safety outcomes (grade ≥3 adverse events [AEs], AEs leading to dose modification/discontinuation, immune‐mediated AEs, and infusion‐related reactions) were generally comparable across the dosing range examined. These results, alongside the convenience of a fixed q3w dose, formed the basis of choosing 200 mg q3w as the recommended dosing regimen for further clinical use. Pooled exposure–response (E–R) analyses by logistic regression using data from study BGB‐A317‐001 (DCO: August 2020) and three additional phase I/II studies (DCOs: 2018–2020) showed no statistically significant correlation between tislelizumab pharmacokinetic exposure and ORR across multiple solid tumor types or classical Hodgkin's lymphoma, nor was exposure associated with any of the safety end points evaluated over the dose range tested. Hence, tislelizumab showed a relatively flat E–R relationship. Overall, the totality of data, including efficacy, safety, and E–R analyses, together with the relative convenience of a fixed q3w dose, provided clinical rationale for the recommended dosing regimen of tislelizumab 200 mg q3w for multiple cancer indications. [ABSTRACT FROM AUTHOR] more...

Building a scientific and reasonable ecological network is the key for optimizing the pattern of territorial development and protection, and is of great significance for ensuring regional ecological security and promoting the virtuous cycle of ecosystems. In previous studies, nodal attack method (destruction of ecological source area) was often used in the "robustness" evaluation of ecological networks. Actually, the ecological corridor is more fragile than the source area, and thus the nodal attack method is not reasonable. In this study, taking Jiuquan City as the research area, based on the circuit model to construct the ecological network, we carried out the topology optimization of ecological network by using three strategies (random edge increase, node degree and priority edge increase with low node intermedium number) in complex network theory. We compared and analyzed the "robustness" of ecological network before and after optimization by constructing edge attack strategy, and selected the best network optimization strategy. The results showed that 65 ecological source areas were identified in Jiuquan City, with a total area of 20275.15 km², and that grassland accounted for 89.5% of the source area. We identified 179 ecological corridors with a total length of 6387.16 km, 158 ecological barrier points with a total area of 1385.5 km². The unused land accounted for 92.2% of the total barrier points area. We identified 63 ecological pinch points, mainly concentrated in the source edge and corridor intersection. Among them, the spatial distribution of 11 barrier points and pinch points was consistent, which was the key area to be repaired in ecological network optimization. The three optimization strategies had significantly improved the stability of ecological network in Jiuquan City. The relative size of the maximum connected subgraph and the edge connected rate of the ecological network of the optimization strategy of adding edges according to degree were all the most stable under random attack mode and deliberate attack mode, which was the best optimization scheme for ecological network in Jiuquan City. [ABSTRACT FROM AUTHOR] more...

Appearance elements are driving tourist consumption. However, there is still a research gap in the matching effects of the peripheral design elements around tourism cultural and creative products (CCPs). Therefore, introducing the theoretical model of "consumer reaction to product form", this study conducted two experiments to explore the matching influence mechanism of CCPs' styles and hues on tourists' willingness to buy. The results highlight that matching the styles and hues of tourism CCPs could positively affect tourists' willingness to buy. Specifically, the tourism CCPs with typical style and cold hue will stimulate tourists' willingness to buy through the mediation of fluency. Furthermore, the tourism CCPs with novel appearance and warm hue improve willingness to buy, in which fluency and perceived enjoyment play a mediating role. These findings contribute to the knowledge of tourism CCP marketing and provide insight into tourism CCP appearance design in the tourism industry. [ABSTRACT FROM AUTHOR] more...

[Objective] To investigate and analyze the current status, needs and issues of information system construction in blood collection and supply institutions in Beijing, and to provide strategic suggestions for the further improvements. [Methods] The qualitative information of information systems from relevant departments of Beijing Red Cross Blood Center, central blood stations, blood banks and hospitals in Beijing were collected by sequential interview method, and analyzed. [Results] There were 6 information systems in operation in blood collection and supply institutions in Beijing, covering functions such as blood collection and supply service management, blood donation information inquiry and reporting, blood collection and supply institution business management, blood donor information management, blood information promotion and information disclosure. However, there were still issues such as low level of system informatization, lack of top-level design for information construction, non-unified data standards, and incomplete system analysis and statistical functions. [Conclusion] Blood collection and supply institutions in Beijing need to further carry out network infrastructure construction, reconstruct system architecture, improve the functions of the blood management information platform, unify data and interfaces to achieve information sharing, and use emerging technologies to achieve intelligence and precision in blood collection and supply services and management. more...

Abstract Background Breast cancer (BC) rates have been increasing in young women in the U.S. Alcohol is an established risk factor for breast cancer and has been consistently associated with hormone receptor positive cancers, the type of breast cancer that has been increasing the fastest in young women. Given these trends, we conducted an ecological study to examine whether alcohol consumption, and specifically binge drinking trends, were correlated with female breast cancer diagnosed under 40 years of age using breast cancer data from the Surveillance, Epidemiology, and End Results (SEER) Cancer Registry. We accounted for a latent period before cancer diagnosis by using exposure 10 years before the outcome (lag model); we also conducted a separate cumulative analysis of 10-year aggregate exposure. Findings Moderate (Incidence Rate Ratio (IRR) = 1.05, 95% Confidence Interval (CI) = 1.02–1.07) and heavy (IRR = 1.05, 95% CI = 1.02–1.07)(≥ 1 and ≥ 2 drinks/day, respectively) alcohol consumption were each associated with Luminal A breast cancer but not the other molecular subtypes. Binge drinking was associated with an increased rate of early-onset Luminal A BC in both the 10-year lag model (IRR = 1.06, 95% CI = 1.02 to 1.11) and the cumulative model (IRR = 1.05, 95% CI = 1.02–1.07). Binge drinking was also associated with early-onset Luminal B BC in the cumulative model (IRR = 1.04, 95% CI = 1.01–1.07), but not associated with ERBB2-enriched or triple negative early-onset BC in either model. Conclusion These trends support the hypothesis that one reason for the increase in early-onset breast cancer is from increased alcohol intake including binge drinking. more...