This study presents prenatal diagnosis and genetic analysis of a pedigree with X-linked intellectual disability. A gravida at approximately 20 gestational weeks underwent prenatal diagnosis following non-invasive prenatal testing suggested sex chromosome abnormalities. Copy number variation (CNV) sequencing identified a 5.7 Mb duplication at Xp22.2p22.11 in the fetus, which initially classified as a variant of uncertain clinical significance. This duplication was inherited from the phenotypically normal mother, while paternal CNV results were normal. Genetic testing of four intellectually disabled family members revealed the identical 5.7 Mb duplication. Through expanded pedigree analysis, the pathogenicity classification of the Xp22.2p22.11 microduplication was upgraded to likely pathogenic. After comprehensive genetic counseling, the family elected pregnancy termination with informed consent.

Objective To analyze the temporal changing trend of postoperative pneumonia(POP)monitoring data in a tertiary first-class cancer hospital in Fujian Province from 2018 to 2023,and provide reference for the effective-ness of implementation of healthcare-associated infection(HAI)prevention and control measures.Methods The temporal changing trend of POP monitoring data of cancer patients in this hospital from 2018 to 2023 was analyzed by Joinpoint regression model,and the average annual percentage change(AAPC)was calculated.Results From 2018 to 2023,the POP incidences of all cancer patients and patients with different tumors in this hospital were as follows:3.46％in all cancer patients,4.77％,18.16％,11.50％,4.66％,0.85％,3.74％,and 0.46％in pa-tients with lung cancer,esophageal cancer,gastric cancer,intestinal cancer,gynecological tumors,hepatobiliary-pancreatic tumor,as well as head and neck tumors,respectively.From 2018 to 2023,the POP incidence of all can-cer patients in the hospital decreased from 5.47％to 1.73％,and POP incidences of patients with lung cancer,gas-tric cancer,and intestinal cancer decreased from 12.23％,14.93％,and 4.40％to 2.60％,3.73％,and 2.09％,respectively.Joinpoint regression model analysis showed that from 2018 to 2023,the AAPC of POP incidence of all cancer patients in the hospital was-19.78％,and the AAPCs of patients with lung cancer,gastric cancer,and in-testinal cancer were-23.69％,-27.30％,and-19.40％,respectively.The incidences of POP in all cancer pa-tients,as well as patients with lung cancer,gastric cancer,and intestinal cancer all showed downward trends,and the differences were all statistically significant(all P＜0.05).According to age,the AAPCs of the ≤60 and＞60 year old groups were-22.02％and-20.48％,respectively,both groups showed statistically significant difference in trends(both P＜0.05).In terms of gender,the AAPCs of the male and female groups were-16.56％and-28.35％,respectively,both groups showed statistically significant difference in trends(both P＜0.05).From 2018 to 2023,Klebsiella pneumoniae showed a significant upward trend in the constituent of POP pathogens in cancer patients,with an AAPC of 6.92％,and the difference was statistically significant(P＜0.05).Conclusion The incidences of POP in some cancer patients in the hospital present significant downward trends,indicating that HAI infection prevention and control measures are effective,but it is still necessary to strengthen the meticulous management of the whole perioperative process.

Objective:To investigate the effects of radiofrequency technology combined with electrical stimulation biofeedback training on stress urinary incontinence in female patients.Methods:This is a prospective study that included 360 female patients with stress urinary incontinence who visited the Department of Gynecology and Obstetrics at Lianyungang Maternal and Child Health Hospital from June 2021 to June 2023. The patients were divided into three groups using a random number table method: a radiofrequency treatment group ( n = 120, treated with radiofrequency technology), an electrical stimulation treatment group ( n = 120, treated with electrical stimulation biofeedback training), and a combined treatment group ( n = 120, treated with a combination of radiofrequency technology and electrical stimulation biofeedback training). The clinical efficacy of the three groups was evaluated. Before and after treatment, a 1-hour pad test and urine test were conducted. The Incontinence Questionnaire-Urinary Incontinence Short Form was used to assess the surface electromyography values of the pelvic floor muscles in patients across the three groups. Results:The effective treatment rate in the combined treatment group was 87.50% (105/120), which was significantly higher than the rates in the radiofrequency treatment group (69.17%, 83/120) and the electrical stimulation treatment group (71.67%, 86/120) ( χ2 = 13.05, P < 0.05). After treatment, the 1-hour pad test showed that the urine leakage amounts and the Incontinence Questionnaire-Urinary Incontinence Short Form scores for the combined treatment group were (1.14 ± 0.16) g and (4.15 ± 0.48), respectively. In comparison, the values in the radiofrequency treatment group were (3.04 ± 0.42) g and (8.66 ± 0.89), while in the electrical stimulation treatment group they were (3.01 ± 0.39) g and (8.78 ± 0.91). Differences among the three groups were statistically significant ( F = 1 024.37, 1 354.96, all P < 0.05). After treatment, the surface electromyography values during the rapid contraction, sustained contraction, and endurance contraction phases for the combined treatment group were (31.97 ± 3.24) μV, (27.01 ± 3.02) μV, and (20.05 ± 2.11) μV, respectively. For the radiofrequency treatment group, the values were (27.85 ± 2.72) μV, (21.63 ± 2.39) μV, and (15.14 ± 1.63) μV, while the electrical stimulation treatment group showed values of (27.93 ± 2.75) μV, (22.04 ± 2.41) μV, and (15.39 ± 1.67) μV. Differences among the three groups were also statistically significant ( F = 78.49, 156.43, 278.16, all P < 0.05). Conclusions:Radiofrequency technology combined with electrical stimulation biofeedback training can substantially improve pelvic floor muscle strength and reduce urinary incontinence symptoms in female patients with stress urinary incontinence.

Objective To analyze the temporal changing trend of postoperative pneumonia(POP)monitoring data in a tertiary first-class cancer hospital in Fujian Province from 2018 to 2023,and provide reference for the effective-ness of implementation of healthcare-associated infection(HAI)prevention and control measures.Methods The temporal changing trend of POP monitoring data of cancer patients in this hospital from 2018 to 2023 was analyzed by Joinpoint regression model,and the average annual percentage change(AAPC)was calculated.Results From 2018 to 2023,the POP incidences of all cancer patients and patients with different tumors in this hospital were as follows:3.46％in all cancer patients,4.77％,18.16％,11.50％,4.66％,0.85％,3.74％,and 0.46％in pa-tients with lung cancer,esophageal cancer,gastric cancer,intestinal cancer,gynecological tumors,hepatobiliary-pancreatic tumor,as well as head and neck tumors,respectively.From 2018 to 2023,the POP incidence of all can-cer patients in the hospital decreased from 5.47％to 1.73％,and POP incidences of patients with lung cancer,gas-tric cancer,and intestinal cancer decreased from 12.23％,14.93％,and 4.40％to 2.60％,3.73％,and 2.09％,respectively.Joinpoint regression model analysis showed that from 2018 to 2023,the AAPC of POP incidence of all cancer patients in the hospital was-19.78％,and the AAPCs of patients with lung cancer,gastric cancer,and in-testinal cancer were-23.69％,-27.30％,and-19.40％,respectively.The incidences of POP in all cancer pa-tients,as well as patients with lung cancer,gastric cancer,and intestinal cancer all showed downward trends,and the differences were all statistically significant(all P＜0.05).According to age,the AAPCs of the ≤60 and＞60 year old groups were-22.02％and-20.48％,respectively,both groups showed statistically significant difference in trends(both P＜0.05).In terms of gender,the AAPCs of the male and female groups were-16.56％and-28.35％,respectively,both groups showed statistically significant difference in trends(both P＜0.05).From 2018 to 2023,Klebsiella pneumoniae showed a significant upward trend in the constituent of POP pathogens in cancer patients,with an AAPC of 6.92％,and the difference was statistically significant(P＜0.05).Conclusion The incidences of POP in some cancer patients in the hospital present significant downward trends,indicating that HAI infection prevention and control measures are effective,but it is still necessary to strengthen the meticulous management of the whole perioperative process.

Objective:To investigate the effects of radiofrequency technology combined with electrical stimulation biofeedback training on stress urinary incontinence in female patients.Methods:This is a prospective study that included 360 female patients with stress urinary incontinence who visited the Department of Gynecology and Obstetrics at Lianyungang Maternal and Child Health Hospital from June 2021 to June 2023. The patients were divided into three groups using a random number table method: a radiofrequency treatment group ( n = 120, treated with radiofrequency technology), an electrical stimulation treatment group ( n = 120, treated with electrical stimulation biofeedback training), and a combined treatment group ( n = 120, treated with a combination of radiofrequency technology and electrical stimulation biofeedback training). The clinical efficacy of the three groups was evaluated. Before and after treatment, a 1-hour pad test and urine test were conducted. The Incontinence Questionnaire-Urinary Incontinence Short Form was used to assess the surface electromyography values of the pelvic floor muscles in patients across the three groups. Results:The effective treatment rate in the combined treatment group was 87.50% (105/120), which was significantly higher than the rates in the radiofrequency treatment group (69.17%, 83/120) and the electrical stimulation treatment group (71.67%, 86/120) ( χ2 = 13.05, P < 0.05). After treatment, the 1-hour pad test showed that the urine leakage amounts and the Incontinence Questionnaire-Urinary Incontinence Short Form scores for the combined treatment group were (1.14 ± 0.16) g and (4.15 ± 0.48), respectively. In comparison, the values in the radiofrequency treatment group were (3.04 ± 0.42) g and (8.66 ± 0.89), while in the electrical stimulation treatment group they were (3.01 ± 0.39) g and (8.78 ± 0.91). Differences among the three groups were statistically significant ( F = 1 024.37, 1 354.96, all P < 0.05). After treatment, the surface electromyography values during the rapid contraction, sustained contraction, and endurance contraction phases for the combined treatment group were (31.97 ± 3.24) μV, (27.01 ± 3.02) μV, and (20.05 ± 2.11) μV, respectively. For the radiofrequency treatment group, the values were (27.85 ± 2.72) μV, (21.63 ± 2.39) μV, and (15.14 ± 1.63) μV, while the electrical stimulation treatment group showed values of (27.93 ± 2.75) μV, (22.04 ± 2.41) μV, and (15.39 ± 1.67) μV. Differences among the three groups were also statistically significant ( F = 78.49, 156.43, 278.16, all P < 0.05). Conclusions:Radiofrequency technology combined with electrical stimulation biofeedback training can substantially improve pelvic floor muscle strength and reduce urinary incontinence symptoms in female patients with stress urinary incontinence.

This study presents prenatal diagnosis and genetic analysis of a pedigree with X-linked intellectual disability. A gravida at approximately 20 gestational weeks underwent prenatal diagnosis following non-invasive prenatal testing suggested sex chromosome abnormalities. Copy number variation (CNV) sequencing identified a 5.7 Mb duplication at Xp22.2p22.11 in the fetus, which initially classified as a variant of uncertain clinical significance. This duplication was inherited from the phenotypically normal mother, while paternal CNV results were normal. Genetic testing of four intellectually disabled family members revealed the identical 5.7 Mb duplication. Through expanded pedigree analysis, the pathogenicity classification of the Xp22.2p22.11 microduplication was upgraded to likely pathogenic. After comprehensive genetic counseling, the family elected pregnancy termination with informed consent.

Objective:To explore the relationship between heart rate variability, severity, and prognosis in patients with acute cerebral infarction (ACI).Methods:A prospective study was conducted on 80 patients with acute cerebral infarction (ACI) admitted to Qinhuangdao Workers′ Hospital from February 2021 to March 2023. The severity of ACI patients was evaluated based on their National Institutes of Health Stroke Scale (NIHSS) scores, and they were divided into mild group (26 cases, NIHSS scores 0-15), moderate group (32 cases, NIHSS scores 16-30), and severe group (22 cases, NIHSS scores 31-45); And 30 healthy individuals who underwent physical examinations during the same period were selected as the control group. The improved Rankin Scale (MRS) was used to evaluate the prognosis of patients, who were divided into a good prognosis group (59 cases) and a poor prognosis group (21 cases) based on the scoring results. All patients underwent dynamic electrocardiogram examination, and the heart rate variability parameters of each group were compared [standard deviation of R-R interval for all sinus beats at 24 hours (SDNN), mean standard deviation of R-R interval for 5 consecutive minutes at 24 hours (SDNN Index), standard deviation of R-R interval mean every 5 minutes (SDANN), root mean square of all adjacent R-R interval differences (rMSSD), and the proportion of adjacent NN interval differences greater than 50 ms (PNN50%)]. The predictive value of heart rate variability parameters on the severity and prognosis of ACI patients was analyzed using receiver operating characteristic (ROC) curves. Logistic regression analysis was used to identify the risk factors for the severity and prognosis of ACI patients.Results:The SDNN, SDANN, SDNN Index, rMSSD, and PNN50% of the mild, moderate, and severe groups were significantly lower than those of the control group ( F=59.382, 11.859, 12.376, 11.699, 47.703, all P<0.01), and the severe group was less than the moderate group and less than the mild group (all P<0.05). The SDNN, SDANN, SDNN Index, rMSSD, and PNN50% in the poor prognosis group were lower than those in the good prognosis group ( t=4.536, 4.181, 5.091, 4.384, 2.851, all P<0.01). The results of logistic regression analysis showed that heart rate variability parameter was an independent influencing factor for the severity and poor prognosis of ACI patients (all P<0.01). The area under the curve for the combined diagnosis of the severity of ACI patients using SDNN, SDANN, SDNN Index, rMSSD, and PNN50% was 0.950, and the area under the curve for the combined prediction of ACI patients′ prognosis was 0.970. Conclusions:The heart rate variability parameter is an independent influencing factor on the severity and prognosis of ACI patients, and its predictive power for the severity and prognosis of ACI patients is high. It can be used as an effective indicator for evaluating the severity and prognosis of ACI patients.

Objective Magnetic resonance simulator(MR Sim)is a novel type of simulation equipment utilized in radiotherapy.Acceptance testing is an essential quality assurance procedure prior to the clinical use of the MR Sim.The report provides the detailed procedures and result analysis of acceptance testing for an MR Sim.Methods The acceptance testing scheme was developed following the recently published AAPM TG284 report and the NCC/T-RT 002-2023 guidelines.Quality control equipments such as ACR(American College of Radiology)large phantom and geometric distortion measurement phantom were used for evaluating various aspects of the MR Sim,including the effectiveness of shielding,the functionality of imaging system,the image quality,the performance of radio frequency coils,the geometric accuracy of large field imaging,the precision of external laser markings,the couch movement accuracy,and the image transmission accuracy.Results The shielding effectiveness at a frequency of 150 MHz exhibited an average value of 105 dB.All of 8 image quality indices,namely geometric accuracy,slice position accuracy,slice thickness accuracy,image uniformity,artifact ratio,signal-to-noise ratio,high-contrast spatial resolution,and low-contrast resolution,fell within recommended tolerances.The maximum geometric distortion observed across a 25 cm field of view was less than 2 mm.The errors in external laser markings and couch movement accuracy were both less than 1 mm.The couch levelness was less than 1°.Both radio frequency coils and image transmission passed the required tests.Conclusion MR Sim is high-precision and complex.To ensure its precise application in radiotherapy,the acceptance testing for an MR Sim should be meticulously designed and executed following the established guidelines and accounting for its unique performance characteristics.

【Objective】  To study the effects of soil environment on the growth, yield, and quality of Sharen (Amomi Fructus) under different planting patterns. 【Methods】  Soil physical and chemical indices and enzyme activities in four periods including early flowering (March), full flowering (June), fruit ripening (September), and late fruit picking (December), were measured under three planting patterns including natural forest, greenhouse, and rubber forest in Xishuangbanna, China. The changes in soil indices during the growth periods of Sharen (Amomi Fructus) under different planting patterns were analyzed, and the differences in plant growth, yield, and quality under different planting patterns were explored. Pearson correlation analysis was used to analyze the relationship between soil indices and Sharen (Amomi Fructus) growth, yield, and quality. Principal component analysis was used to investigate the effects of soil environment under different planting patterns on Sharen (Amomi Fructus) growth, yield, and quality. 【Results】  The soil moisture, available potassium content, and urease activity of the three planting patterns of Sharen (Amomi Fructus) increased initially and decreased afterwards throughout the year; pH and organic matter content showed little change in the whole year. Exchangeable manganese content and acid phosphatase activity gradually increased throughout the year. Hydrolyzed nitrogen content, exchangeable calcium content, available zinc content, protease activity, and sucrase activity decreased initially and increased afterwards throughout the year. Exchangeable magnesium content, available iron content, and catalase activity decreased annually. Total nitrogen content, total phosphorus content, and available phosphorus content fluctuated throughout the year. The total potassium content under natural forest and greenhouse planting decreased throughout the year, while the total potassium content under rubber forest showed an upward trend all year round. The organic matter content, total nitrogen content, total potassium content, available potassium content, available zinc content, urease activity, acid phosphatase activity, and catalase activity under greenhouse were significantly lower than those under natural and rubber forests (P < 0.05). Correlation analysis showed that plant growth, yield, and quality of Sharen (Amomi Fructus) were significantly correlated with soil organic matter, total nitrogen, hydrolyzed nitrogen, total phosphorus, available phosphorus, total potassium, available potassium, exchangeable manganese, exchangeable magnesium, exchangeable calcium, available zinc, urease, acid phosphatase, and invertase (P <  0.05). The results of the principal component analysis indicated that the soil environment of Sharen (Amomi Fructus) under natural forest was the best, followed by rubber forest and greenhouse. The order of its advantages and disadvantages is consistent with the growth index of Sharen (Amomi Fructus), but contrary to the yield of Sharen (Amomi Fructus), indicating that the soil environment directly affects the growth index and nutritional components of plants. 【Conclusion】  Different planting patterns of Sharen (Amomi Fructus) have different soil nutrient content, and the change rules in the growths period are not similar, with some differences. Soil indices have impacts on plant growth, yield, and quality of Sharen (Amomi Fructus). Soil ecological environment is positively correlated with the growth characteristics of Sharen (Amomi Fructus) plants, but has no direct correlation with yield and quality.

Objective To investigate the age-related changes of biomechanical properties for humerus, femur and tibia in male rats and their application values in age estimation. Methods According to different weeks of age, 90 healthy male SD rats were divided into 2, 4, 6, 8, 17, 26, 52, 78 and 104-week groups with 10 rats in eachgroup. After the rats were executed by excessive anesthesia, humerus, femur, and tibia were separated and the attached soft tissues were removed. The length of the above-mentioned bones and the diameter of the middle section (compression site) were measured with vernier caliper, and the three-point bending test was conducted with electronic universal material testing machine to detect the ultimate load and displacement under ultimate load. Results There were significant differences in the ultimate load of humerus, femur and tibia among male rats in different age groups (P<0. 05). With the increase of week age, the ultimate loads of the humerus, femur and tibia increased first and then decreased, and reached the peak value in 52-week age group, showing a strong positive correlation with week age before 52 weeks ( r = 0. 884,0. 933,0. 929, P<0. 05). There was no significant difference in humerus and tibia. The displacement of femur under ultimate load was weakly positively correlated with week age (R= 0. 406,P<0. 05). The age prediction accuracy for automatic linear modeling of ultimate load for humerus, femur, tibia and three above-mentioned bones in rats before 52-week age was 78. 2% , 86. 8% , 84. 1% and 88. 3% , respectively. There was a strong positive correlation between the length of humerus, femur and tibia and the ultimate load (R= 0. 904, 0. 897, 0. 814, P<0. 05). The diameters of humerus, femur and tibia were strongly positively correlated with the ultimate load (R = 0. 759, 0. 814 and 0. 745, P<0. 05). Conclusions The ultimate loads of humerus, femur and tibia in male rats increased first and then decreased with age, and were positively correlated with age before 52 weeks, which could be used for age inference. The highest accuracy of age estimation was ultimate loads of three bones, followed by femur. The length/ middle diameter of humerus, femur and tibia were strongly positively correlated with the ultimate load.