Objective To investigate and validate the expression profiles of Ppp3cb and Ppm1g through differential proteomic analysis of hippocampal tissue in NHE1 gene knockout mice with proteomic analysis.Method ① Six 2-week-old NHE1 knockout mice were selected as the model group,and 6 wild-type mice of the same age served as the control group,and their genotypes were detected by agar-gel electrophoresis.Open field test and forced swimming test were used to evaluate the behaviors of mice in the model group and control group,and epileptic seizure was graded according to Racine scoring.② Tandem mass spectrometry was employed to screen the differential proteins in the hippocampus tissues from the model group and the control group.Then the obtained differential proteins were annotated and enriched in the Gene Ontology(GO)database.Search tool for the retrieval of interesting genes(STRING)database was used to analyze protein-protein interaction(PPI)among different proteins.③ The transcriptional and translational levels of Ppp3cb and Ppm1g were detected by qPCR and Western blotting,respectively,and their expression levels in the tissues were observed with immunohistochemistry.Results ① NHE1 was not expressed in the model group.The mice of the model group had shorter total movement distance(P=0.007 3)and less crossing cells(P＜0.000 1)in open field test,and longer period of immobility in forced swimming test(P＜0.000 1)when compared with those from the control group.② When fold change ≥1.2 times and P＜0.05 were set as the significant threshold for differential expression,845 differentially expressed protein sites were detected in the hippocampus,among which 9 proteins(including Ppm1g)were up-regulated and 7 ones(including Ppp3cb)were down-regulated.Gene Ontology(GO)functional analysis showed that after NHE1 knockout,the most significant differences were observed in the concentration of molecular function(MF)related to protein serine/threonine phosphatase activity,concentration of cellular component(CC)related to the plasma membrane,and concentration of biological process(BP)related to negative regulation of biological processes and immune system processes.STRING analysis indicated that the differential proteins Ppp3cb and Slc9a1 directly acted,Ppm1g indirectly acted through Ppp3cb and Slc9a1,and Ppp3cb and Ppm1g interacted.③The transcriptional and translational levels of Ppp3cb were decreased,and its expression level was reduced in the tissues,while those of Ppm1g were increased,and its expression was elevated in the tissues(P＜0.05).Conclusion In the hippocampus of NHE1 gene knockout mice,the expression of differential protein Ppp3cb is down-regulated and that of Ppm1g is up-regulated,which provide a basis for further study on their involvement in the pathogenesis of epilepsy.

To establish the amplification-refractory mutation system quantitative real-time PCR (ARMS-qPCR) method based on qPCR technique for detecting the c.2T>C mutation of SLC25A13 gene and validate its diagnostic performance. According to the principle of ARMS-qPCR primer design, the specific primers were designed for the conserved sequence of SLC25A13. The c.2T>C mutation ARMS-qPCR detection assay of SLC25A13 gene and the corresponding Sanger sequencing system were established through the use of the synthetic plasmids of homozygous mutation and 200 human peripheral blood specimens which were verified by Sanger sequencing as templates, and the diagnostic efficacy of the qPCR assay was validated by using nucleic acid extracted from another 200 human peripheral blood specimens and the results obtained were compared with the Sanger sequencing results as the gold standard, and the consistency of the two detection methods was analyzed. The results showed that the qPCR assay could accurately identify artificial plasmids carrying different mutations of SLC25A13 gene, and distinguish between wild type SLC25A13 gene and the c.2T>C mutation. This method was used to detect the mutation status of SLC25A13 c.2T>C in human peripheral blood, and the detection results were 100% consistent with the Sanger sequencing results. Among the 200 blood samples, 8 samples (4%) carried the c.2T>C mutation of SLC25A13 gene and 192 samples (96%) did not carry it. In conclusion, the ARMS-qPCR test established in this study can quickly, simply and accurately detect the c.2T>C mutation of SLC25A13 gene, which is helpful for the diagnosis of citrin deficiency (CD).

To establish the amplification-refractory mutation system quantitative real-time PCR (ARMS-qPCR) method based on qPCR technique for detecting the c.2T>C mutation of SLC25A13 gene and validate its diagnostic performance. According to the principle of ARMS-qPCR primer design, the specific primers were designed for the conserved sequence of SLC25A13. The c.2T>C mutation ARMS-qPCR detection assay of SLC25A13 gene and the corresponding Sanger sequencing system were established through the use of the synthetic plasmids of homozygous mutation and 200 human peripheral blood specimens which were verified by Sanger sequencing as templates, and the diagnostic efficacy of the qPCR assay was validated by using nucleic acid extracted from another 200 human peripheral blood specimens and the results obtained were compared with the Sanger sequencing results as the gold standard, and the consistency of the two detection methods was analyzed. The results showed that the qPCR assay could accurately identify artificial plasmids carrying different mutations of SLC25A13 gene, and distinguish between wild type SLC25A13 gene and the c.2T>C mutation. This method was used to detect the mutation status of SLC25A13 c.2T>C in human peripheral blood, and the detection results were 100% consistent with the Sanger sequencing results. Among the 200 blood samples, 8 samples (4%) carried the c.2T>C mutation of SLC25A13 gene and 192 samples (96%) did not carry it. In conclusion, the ARMS-qPCR test established in this study can quickly, simply and accurately detect the c.2T>C mutation of SLC25A13 gene, which is helpful for the diagnosis of citrin deficiency (CD).

Background Operation and maintenance work in the power grid industry often involving climbing, manual handling, and poor postures causing serious problems like work-related musculoskeletal disorders (WMSDs). The influencing factors of WMSDs are not very clear, but the problem has been widely concerned in this industry. Objective To understand the prevalence and influencing factors of WMSDs among climbing task-involved workers in power supply enterprises. Methods Using a cross-sectional design, a total of 702 workers involving climbing task from 10 power supply enterprises in Jilin Province, Tianjin Municipality, and Shandong province were selected as study subjects using cluster sampling. The Musculoskeletal Disorders Questionnaire which was revised by Lei Yang was used to estimate the prevalence and identify related factors of WMSDs. \begin{document}$ {\chi ^2} $\end{document} test and multiple logistic regression were used to analyze the data. Results A total of 702 subjects were approached, 649 valid questionnaires were recovered, and the effective recovery rate was 92.45%. The prevalence of WMSDs was 81.2%, and neck (65.0%), low back (59.0%), and shoulders (54.4%) were areas of high prevalence of WMSDs. The multiple logistic regression analysis results showed that sometimes and often/very often holding awkward postures were the risk factors of neck, shoulders, low back, knees, upper back, hands/wrists, ankles/feet, elbows, and hips/thighs WMSDs; the OR (95%CI) values were 1.931 (1.260-2.959) and 3.145 (1.810-15.465), 2.700 (1.694-4.305) and 3.888 (2.224-6.798), 1.860 (1.213-2.852) and 3.150 (1.833-5.414), 2.348 (1.456-3.785) and 3.689 (2.130-6.388), 1.782 (1.128-2.815) and 3.274 (1.935-5.538), 1.710 (1.014-2.884) and 2.595 (1.455-4.630), 1.836 (1.019-3.305) and 2.860 (1.526-5.358), 2.250 (1.185-4.275) and 3.032 (1.505-6.108), 2.080 (1.048-4.128) and 3.127 (1.501-6.516), respectively. Department staff shortage was the risk factor of neck, shoulders, low back, upper back, hands/wrists, and ankles/feet WMSDs; the OR (95%CI) values were 1.791 (1.038-3.093), 2.000 (1.119-3.573), 2.506 (1.429-4.394), 2.063 (1.113-3.822), 2.256 (1.069-4.762), and 2.699 (1.103-6.601), respectively. Frequent knee bending was the risk factor of knees, upper back, and hands/wrists WMSDs; the OR (95%CI) values were 1.895 (1.327-2.704), 1.586 (1.131-2.224), and 2.026 (1.390-2.951), respectively. Often pushing/pulling heavy objects was the risk factor of shoulders, low back, and hips/thighs WMSDs; the OR (95%CI) values were 1.485 (1.066-2.192), 1.547 (1.064-2.749), and 1.822 (1.160-2.862), respectively. Long-time heavily neck tilting forward was the risk factor of elbows and hips/thighs WMSDs; the OR (95%CI) values were 1.649 (1.068-2.546) and 2.005 (1.285-3.129) respectively. Long-time ankle or foot bending was the risk factor of ankles/feet and elbows WMSDs; the OR (95%CI) values were 2.481 (1.685-3.655) and 1.655 (1.065-2.571) respectively. Cold or changes in temperature was the risk factor of neck and shoulders WMSDs; the OR (95%CI) values were 2.182 (1.072-4.443) and 2.116 (1.010-4.431) respectively. Exercise was the protective factor of neck, shoulders, low back, upper back, and ankles/feet WMSDs; the OR (95%CI) values were 0.493 (0.363-0.666), 0.625 (0.438-0.888), 0.404 (0.283-0.576), 0.570 (0.408-0.797), and 0.639 (0.436-0.937), respectively. Conclusion The prevalence of WMSDs is high among workers involving climbing task in power supply enterprises, and neck, low back, and shoulders are the most commonly affected body parts. The influencing factors involve awkward postures, repetitive movements, repetitive tasks, pushing/pulling heavy objects, staff shortage, poor working environment, and exercise.

Background Power grid is a basic industry of national economy. The occupational health problems among operation and maintenance workers in this industry have become increasingly prominent in recent years, and they should receive enough attention. Objective To estimate the prevalence of work-related musculoskeletal disorders (WMSDs) of neck and shoulder among operation and maintenance workers of power supply enterprises, and analyze related influencing factors. Methods From March to June 2021, a total of 1433 operation and maintenance worker from 10 power supply enterprises in three provinces of North China were selected as research subjects using cluster sampling method. A revised Musculoskeletal Disorders Questionnaire was used to investigate the prevalence and ergonomic factors of neck and shoulder pain in the past year. χ² test and logistic regression model were used to explore influencing factors of neck and shoulder pain among operation and maintenance workers. Results A total of 1343 valid questionnaires were recovered and the effective recovery rate was 93.72%. The neck pain prevalence was 66.0% (886 cases) and the shoulder pain prevalence was 54.1% (727 cases). The multiple logistic regression analysis results showed that often/very often long-time sitting (OR=1.864, 95%CI: 1.236-2.811; OR=1.659, 95%CI: 1.091-2.524), sometimes holding awkward postures (OR=1.695, 95%CI: 1.294-2.219; OR=1.596, 95%CI: 1.218-2.092), often/very often holding awkward postures (OR=2.416, 95%CI: 1.618-3.607; OR=2.058, 95%CI: 1.405-3.015), long-time slight neck tilting forward (OR=1.327, 95%CI: 1.023-1.722; OR=1.571, 95%CI: 1.221-2.022), long-time elbows bending (OR=1.327, 95%CI: 1.023-1.722; OR=1.506, 95%CI: 1.112-2.040) and department or team staff shortages (OR=1.578, 95%CI: 1.153-2.161; OR=1.831, 95%CI: 1.320-2.539) were associated with higher neck and shoulder pain prevalence rates. While exercise (OR=0.630, 95%CI: 0.492-0.809; OR=0.707, 95%CI: 0.557-0.899) was associated with lower neck and shoulder pain prevalence rates. Doing same work every day (OR=1.704, 95%CI: 1.305-2.225) was associated with a higher neck pain prevalence rate. Awkward postures with ineffectual force (OR=1.808, 95%CI: 1.226-2.665) and often keeping arms above shoulders (OR=1.424, 95%CI: 1.017-1.992) were associated with a higher shoulder pain prevalence rate. Conclusion The prevalence rates of neck and shoulder pian are high among operation and maintenance workers of power supply enterprises in selected three provinces of North China, and the main associated factors include individual factors, awkward work postures, and labor organization.

Background Prolonged awkward postures during occupational activities can lead to excessive musculoskeletal load on the wrist of workers and symptoms such as wrist pain or discomfort. Objective To survey the prevalence of wrist pain among workers in 10 key industries and analyze its correlation with wrist working postures. Methods By using stratified cluster sampling method, workers from 10 key industries, such as footwear manufacturing industry, shipbuilding manufacturing industry, and automobile manufacturing industry, were selected from seven regions in North China, East China, Central China, South China, Southwest China, Northwest China, and Northeast China. The demographic information, wrist working postures, pain in wrist of the workers were collected through a cross-sectional survey. Pearson χ² test was used to compare prevalence by selected factors, trend χ² test for between group comparison, and unconditional logistic regression models for the association of wrist working postures with wrist pain. Results There were 64052 workers enrolled in this survey, and 56286 provided valid questionnaires (the effective rate was 87.8%). According to the survey, the prevalence of wrist pain was 23.3% (13112/56286), and the industries with higher prevalences were footwear manufacturing (27.1%, 1927/7106), automobile manufacturing (24.9%, 5378/21560), and shipbuilding and related equipment manufacturing (24.4%, 850/3488) industries. Finger pinching (OR=2.09, 95%CI: 1.95-2.24), frequent wrist bending (OR=2.03, 95%CI: 1.92-2.15), fixed wrist bending (OR=1.77, 95%CI: 1.69-1.85), wrist on hard edge (OR=1.34, 95%CI: 1.28-1.40), and arms over shoulders (OR=1.11, 95%CI: 1.05-1.17) increased the risk of reporting wrist pain. Conclusion Awkward postures are related to wrist pain among workers in selected 10 key industries. The related factors are wrist on hard edge, frequent wrist bending, finger pinching, fixed wrist bending, and arms over shoulders.

Background Long working hours is harmful to the physical and mental health of occupational groups, and should receive active attention. Objective To evaluate the current status of long working hours among operation and maintenance workers of power supply enterprises, and explore its effects on work-related musculoskeletal disorders (WMSDs) of the population. Methods From March to June 2021, a cross-sectional survey was conducted among 1433 operation and maintenance workers from 10 power supply enterprises in Jilin Province, Shandong Province, and Tianjin Municipality using cluster sampling. A total of 1433 copies of revised Mus-culoskeletal Disorders Questionnaire were distributed, 1343 questionnaires were recovered, and the recovery rate was 93.72%. The questionnaire included general information, personal health behaviors, weekly working hours, work-related factors, and musculoskeletal pain or discomfort in nine body parts in the past 12 months. χ² test and multiple logistic regression models were used to investigate the relationships between long working hours (>40 h per week) and WMSDs. Results The average age of the workers was (39.42±9.89) years, and the average work experience was 11.00 (5.00, 21.00) years. There were 1158 males (86.22%) and 185 females (13.78%). The average weekly working hours of the workers were (47.98±11.35) h, and the proportion of long working hours (>40 h per week) was 61.06% (820/1343). The proportions of long working hours were higher among the workers with characteristics of male, power distribution, shift work, often/very often long-time standing, often/very often holding awkward postures, often handling heavy objects, limited space to operate, long-time neck tilting backward, keeping arms above shoulders, frequent elbow bending, repeating knee movement every minute, and repeating lower limb or foot movement every minute (all P<0.05). The prevalence rate of WMSDs was 81.53% (1095/1343) among the workers. The results of multiple logistic regression showed that after adjusting education, smoking, exercise, awkward postures, often handling heavy objects, limited space to operate, long-time heavy trunk bending, long-time neck tilting backward, and keeping arms above shoulders, compared with working ≤40 h per week, the risk of WMSDs among workers working >49 h per week was higher (OR=1.406, 95%CI: 1.011-1.955). Conclusion Long working hours is prominent among operation and maintenance workers of power supply enterprises, and increases the risk of reporting WMSDs.

Background Climbing pylons during high-voltage cable maintenance is not only a labor-intensive task, but also a challenge bringing about heat stress and mental pressure from working at height, which may lead to accumulation of muscle fatigue and work-related musculoskeletal disorders. Objective To record the local muscle fatigue during a simulated climbing task by high-voltage cable electricians based on surface electromyography (sEMG) signals, explore the characteristic changes in sEMG signals and their relationship with subjective fatigue evaluation of the task, and provide data support for developing task specific objective assessment tools for local muscle fatigue and prevention of work-related musculoskeletal disorders. Methods Ten male college students were recruited to conduct a test of a simulated pylon climbing task. The climbing distance was 60 m, and a task segment was set for every 20 m (about 100 s), recorded as T1, T2, and T3, respectively. After completing each task segment, the subjects were required to rate their subjective fatigue using the Borg's RPE Scale. Fatigue was defined by rating of perceived exertion (RPE) score ≥ 14 in this study. The sEMG signals of trapezius, erector spinae, rectus femoris, and gastrocnemius muscles were recorded wirelessly. The standardized maximal voluntary electrical activation (MVE) obtained by standardizing the root mean square (RMS) of the time domain index and the median frequency (MF) of the frequency domain index were estimated for the recorded sEMG signals, and joint amplitude and spectrum analysis (JASA) was used to evaluate local muscle fatigue of target muscles involving in the climbing task. Results The RPE scores of T1, T2, and T3 were 11.9, 15.3, and 17.4, respectively. Subjective fatigue was found in T2 and T3 but not in T1. With the extension of climbing time, the MVE values of left and right erector spinae muscles, left and right rectus femoris, and right gastrocnemius muscle increased gradually, while the MVE values of left and right trapezius muscles and left gastrocnemius muscle increased first and then decreased. The MF values of left and right rectus femoris increased at first, then remained unchanged, while the MF values of the other muscles remained basically unchanged. In T1, three muscles, including left trapezius muscle and both side of erector spinae muscles, showed fatigue; in T2, five muscles, including both sides of erector spina muscles, right trapezius muscle, and both sides of gastrocnemius muscle appeared fatigue; in T3 , except for left rectus femoris, the other seven muscles were fatigue. Conclusion The characteristic changes of electromyography signals in the simulated climbing task are not completely consistent with the typical amplitude increase and left shift of the frequency spectrum of sEMG signals in static tasks, indicating that the application of time-domain and frequency-domain analysis methods in the evaluation of muscle fatigue in climbing tasks needs further discussion. Trapezius muscles and erector spinae muscles are the first to show fatigue in the simulation, and may be the sensitive muscle groups of muscle fatigue associated with climbing movement. Compared with subjective evaluation, surface electromyography is more sensitive in the assessment of body fatigue. Fatigue is reported about 100 s of climbing (the climbing length is about 20 m).

Objective: To investigate the potential relationship between sensory characteristics and gray matter volumes in children with autism spectrum disorders (ASD), to provide a basis for the diagnosis and treatment of children with ASD. Methods: A total of 40 ASD children who were treated or recovered in Xi an medical institutions and 16 typically developing (TD) children who were from several kindergatens in Xi an were invited for participation. Sensory characteristics were evaluated by the sensory processing and self regulation checklist, 3D structural brain images were obtained with TIWI, and gray matter volumes were analyzed by voxel based morphometry. Sensory characteristics and gray matter volumes were compared between groups and the relationship between sensory characteristics and different gray matter volumes were analyzed. Results: The scores of auditory, visual, tactile, sensory processing ability and sensory under responsivity in the ASD group were lower than those in the TD group ( Z/t =-2.63, -2.57 , -3.11, -2.19, -3.83, P <0.05). Gray matter volumes in nine brain regions increased in the ASD group compared to the TD group, including the left and right posterior inferior lobe, right parahippocamal gyrus, left insula, left media frontal gyrus, left superion occipital gyrus, right superion occipital gyrus, right superion parietal lobe, and right posterion central gyrus ( t =3.53, 3.69 , 3.37, 3.86, 3.61, 3.37, 4.04, 3.38, 3.16, P <0.01). In the ASD group, the scores of visual, vestibular, proprioceptive, sensory processing ability, sensory seeking behavior and sensory over responsivity were negatively correlated with gray matter volumes of left superior occipital gyrus ( r =-0.36, -0.40, -0.39, -0.36, -0.40, -0.36), and the scores of visual, vestibular, and sensory over responsivity were negatively correlated with gray matter volumes of the right superior parietal lobule ( r =-0.36, -0.50, -0.42)( P <0.05). Conclusion The presence of paresthesia in children with ASD is associated with gray matter volumes of the left superior occipital gyrus and right superior parietal lobule.

Objective:To summarize the clinical features, laboratory examination and genetic analysis of a patient with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).Methods:Clinical manifestations, results of urine glycosaminoglycans (GAGs) and dermatan sulfate assay, metabolites related to MPS in peripheral blood leukocytes were analyzed. Meanwhile, the child and his mother were subjected to next-generation sequencing and Sanger sequencing.Results:The boy has presented with global development delay, coarse facies, frequent upper-respiratory infections, hearing loss, indirect inguinal hernia, hepatosplenomegaly, and skeletal deformities. His urine GAGs were significantly elevated, and the urinary dermatan sulfate (DS) was positive. Meanwhile, the activity of idose-2-sulfatase was extremely reduced. The patient was found to harbor a hemizygote c. 676C>G (p.His226Asp) missense variant in exon 5 of IDS gene, for which his mother was heterozygous. Conclusion:The novel c. 676C>G variant of the IDS gene probably underlay the MPS Ⅱ in this child. Genetic testing combined with enzymatic analysis can enable effective diagnosis and classification of MPS.