Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

OBJECTIVE: To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods. METHODS: Four patients presented at Northwest Women's and Children's Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022). RESULTS: The chromosomal karyotypes of the patients were mos 46,XX,fra(16)(q22)[26]/47,XX,del(16)(q22),+chrb(16)(q22)[4]/46,XX,del(16)(q22)[3]/46,XX[91], mos 46,XY,fra(16)(q22)[21]/46,XY,del(16)(q22)[3]/46,XY[76], mos 46,XX,fra(16)(q22)[21]/ 46,XX,del(16)(q22)[4]/46,XX[75] and mos 46,XX,fra(16)(q22)[16]/46,XX,del(16)(q22)[7]/47,XX,del(16)(q22),+chrb(16)(q22)[6]/47,XX,fra(16)(q22),+chrb(16)(q22)[3]/46,XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16. CONCLUSION Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
Humans ; Chromosome Fragile Sites/genetics* ; Chromosomes, Human, Pair 16/genetics* ; DNA Copy Number Variations/genetics* ; Karyotyping

Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

Objectives:To explore the burden and trend of cardiovascular diseases(CVD)attributed to household air pollution(HAP)in the world and China from 1990 to 2019. Methods:Based on the Global Burden of Disease(GDB)database in 2019,the CVD data attributed to HAP in China and around the world were extracted,and the mortality and disability-adjusted life years(DALY)and their age standardized rate(ASR)and estimated annual percentage change(EAPC)were used to analyze the burden of disease and trend in China and other regions and countries from 1990 to 2019. Results:From 1990 to 2019,the age-standardized death rate(ASDR)(EAPC=-3.65,95%CI:-3.86 to-3.44),and the age-standardized DALY rate(EAPC=-3.60,95%CI:-3.78 to-3.41)attributable to HAP for CVD globally showed a decreasing trend.In China,the ASDR(EAPC=-5.78,95%CI:-6.17 to-5.38)and the age-standardized DALY rate(EAPC=-5.97,95%CI:-6.32 to-5.62)also showed a declining trend.The burden of males was slightly higher than females,reaching its peak at the age of 75 to 89 years.The largest increase of the burden of CVD attributed to HAP was in Philippines(ASDR:EAPC[95%CI]=0.87[0.21-1.54];age-standardized DALY rate:EAPC[95%CI]=1.32[0.60-2.03]),and the largest decline was in Saudi Arabia(ASDR:EAPC[95%CI]=-18.48[-18.63 to-18.32];age-standardized DALY rate:EAPC[95%CI]=-18.25[-18.38 to-18.12]).In 2019,the highest disease burden of CVD related to HAP per 100 000 people was significantly higher in ASDR(56.67,95%UI:42.08-73.07)and age-standardized DALY rate(1 318.63,95%UI:997.40-1 672.29)in areas with low social demographic index(SDI)than in other SDI areas.In 2019,among the 21 geographical regions and 204 countries in the world,the highest disease burden per 100 000 people was in Oceania,and the highest country was Solomon Islands,the corresponding ASDR of China was 12.52(95%UI:6.35-21.29)and the age-standardized DALY rate was 262.65(95%UI:133.90-447.50). Conclusions:From 1990 to 2019,the age-standardized burden of CVD attributable to HAP in the world and China showed a consistent downward trend,with males slightly higher than females,and the burden concentrated on population between 75 and 89 years old.Although there has been a certain decline in China,the disease burden is still high,so there is still a urgent need to take strong intervention measures to reduce burden of CVD attributable to HAP in China.

ObjectiveTo compare the retest reliability and discriminant validity of dynamic postural stability indices for functional ankle instability (FAI) obtained by different algorithms based on acceleration signals at different positions of human body. MethodsFrom April to June, 2021, 21 subjects with unilateral FAI and 21 subjects with normal ankle were recruited. Three inertial sensors were attached to the waist points, knee and ankle positions. The ground reaction force (GRF) and kinematics data of the subjects in multi-direction single leg landing test were collected synchronously by 3D force plate and inertial sensors. The unbounded third order polynomial (UTOP) fitting method was used to calculate the stability time, and the root mean square was used to caculate the stability index. ResultsMost of the indicators calculated based on acceleration signal correlated with that based on GRF with low coefficient (|r| = 0.116 to 0.368, P < 0.05). The stability time and stability index based on the acceleration signals of different positions of human body showed low to high retest reliability (CMC 0.30 to 0.91). For the females, among the stability time based on acceleration signal, eleven indexes achieved average to very high discriminant validity (AUC = 0.702 to 0.942, P < 0.05); eight of the stability indexes reached general level of discriminant validity (AUC = 0.717 to 0.782, P < 0.05). No algorithms achieved good discriminant effect in male subjects. ConclusionBased on the acceleration signal of waist point in single-leg landing stability test, the stability time calculated by UTOP algorithm can evaluate the dynamic postural stability of female FAI patients with high discriminant validity and medium to high retest reliability.

Objective To investigate the effect of galectin-1 preconditioning on pyroptosis of venti-lator-induced lung injury(VILI)in mice.Methods Thirty clean grade healthy male C57BL/6 mice,aged 6-8 weeks,weighing 22-30 g,were divided into three groups by random number table method:control group(group C),VILI group(group V),and galectin-1+VILI group(group G),10 mice in each group.After endotracheal intubation,group C kept spontaneous breathing for 4 hours,groups V and G kept me-chanical ventilation for 4 hours.One hour before endotracheal intubation,groups C and V were intraperito-neally injected with normal saline 0.75 ml,and group G was intraperitoneally injected with galectin-1 3 μg.Arterial blood was collected before endotracheal intubation and after spontaneous respiration or ventilation to detect PaO2.Then mice were sacrificed and bronchoalveolar lavage fluid(BALF)was collected.Concentra-tions of IL-1β and IL-18 in BALF were detected by ELISA.Lung tissue was collected for determination of the wet weight/dry weight ratio(W/D).The expression of GSDMD,caspase-1,and caspase-11 mRNA and protein in lung tissues were detected by qRT-PCR and Western blot.Pathological changes of the lungs were observed and scored by HE staining.Results Compared with group C,PaO2 were significantly decreased,W/D,concentrations of IL-1β and IL-18 in BALF,mRNA and protein expressions of GSDMD,caspase-1 and caspase-11,and lung injury score were significantly increased in groups V and G(P＜0.05).Com-pared with group V,PaO2 was significantly increased,W/D,concentrations of IL-1β and IL-18 in BALF,mRNA and protein expressions of GSDMD,caspase-1,and caspase-11,and lung injury score were signifi-cantly decreased in group G(P＜0.05).Conclusion Galectin-1 can increase PaO2 in mice and reduce IL-1β and IL-18 concentration,mRNA expression and protein content of classical non-classical pyroptosis pathway related genes,and reduce VILI in mice.

Objective:To evaluate the effect of irisin on the alveolar macrophage polarization in a rat model of ventilator-induced lung injury (VILI).Methods:Thirty SPF healthy adult male Sprague-Dawley rats, aged 6-8 weeks, weighing 200-250 g, were divided into 3 groups ( n=10 each) using a random number table method: control group (group C), VILI group (group V) and irisin group (group I). The rats were mechanically ventilation (tidal volume 20 ml/kg, respiratory rate 80 times/min, inhaled oxygen concentration 21%, inspiratory/expiratory ratio 1∶2, positive end-expiratory pressure 0) for 4 h to develop VILI model.Group C kept spontaneous breathing for 4 h. Irisin 1 μg/kg was injected via the tail vein at 30 min before tracheal intubation in group I, while the equal volume of normal saline was given instead in the other groups.The rats were sacrificed at 4 h of mechanical ventilation, the lung tissues were removed for examination of pathological changes which were scored and for determination of wet to dry weight ratio (W/D ratio), and bronchoalveolar lavage fluid (BALF) was collected for determination of concentrations of interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α) and IL-10 (by enzyme-linked immunosorbent assay), expression of inducible nitric oxide synthase (iNOS), argininase 1 (Arg-1), and phosphorylated nuclear factor kappa B (p-NF-κB) p65 and p-NF-κB p50 in alveolar macrophages (by Western blot), and percentage of M1 and M2 alveolar macrophages and M1/M2 ratio (by flow cytometry). Results:Compared with group C, the W/D ratio, lung injury score, and concentrations of IL-6, TNF-α and IL-10 in BALF were significantly increased, the expression of iNOS, Arg-1, p-NF-κB p65 and p-NF-κB p50 was up-regulated, and the percentage of M1 and M2 alveolar macrophages and M1/M2 ratio were increased in group V and group I ( P<0.05). Compared with group V, the W/D ratio, lung injury score, and concentrations of IL-6 and TNF-α in BALF were significantly decreased, the expression of iNOS and p-NF-κB p65 was down-regulated, the percentage of M1 alveolar macrophages and M1/M2 ratio were decreased ( P<0.05), and no significant change was found in levels of IL-10 and Arg-1 in BALF, percentage of M2 alveolar macrophages and expression of p-NF-κB p50 in group I ( P>0.05). Conclusions:The mechanism by which irisin reduces VILI may be related to inhibition of NF-κB signaling pathway activation and reduction of alveolar macrophage polarization to M1 phenotype in rats.

Objective:To investigate the clinical efficacy of Da Vinci robotic assisted and laparos-copic assisted complete mesocolic excision (CME) for right hemicolon cancer.Methods:The propensity score matching and retrospective cohort study was conducted. The clinicopatho-logical data of 119 patients with right hemicolon cancer who were admitted to Daping Hospital, Army Medical University from July 2016 to July 2019 were collected. There were 63 males and 56 females, aged (61±11)years. All the 119 patients underwent CME of right hemicolon. Of 119 patients, 37 cases undergoing Da Vinci robotic assisted CME of right hemicolon were divided into robotic group and 82 cases undergoing laparoscopic assisted CME of right hemicolon were divided into laparoscopic group. Observation indicators: (1) the propensity score matching conditions and comparison of general data between the two groups after propensity score matching; (2)intraoperative and postoperative situations; (3) postoperative pathological examination; (4)follow-up. Follow-up was conducted by outpatient examination or telephone interview to detect tumor metastasis and survival of patients after surgery up to August 2019. The propensity score matching was conducted by 1∶1 matching using the nearest neighbor method. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the independent sample t test. Count data were represented as absolute numbers, and comparison between groups was conducted using the chi-square test or Fisher exact probability. The Kaplan-Meier method was used to calculate survival rate and the GraphPad Prism 5 software was used to draw survival curve. The Log-rank test was used for survival analysis. Results:(1) The propensity score matching conditions and comparison of general data between the two groups after propensity score matching: 68 of 119 patients had successful matching, including 34 cases in each group. Before propensity score matching, cases undergoing surgery by surgeon A or surgeon B were 32, 5 of the robotic group, versus 49, 33 of the laparoscopic group, showing a significant difference between the two groups ( χ2=8.381, P<0.05). After propensity score matching, the gender (males or females), age, body mass index (BMI), cases with tumor classified as stageⅠ, stage Ⅱ or stage Ⅲ of TNM staging, cases with tumor located at ileocecal region, ascending colon, hepatic flexor of colon or transverse colon, cases undergoing surgery by surgeon A or surgeon B were 17, 17, (62±10)years, (22.4±2.7)kg/m 2, 4, 14, 16, 3, 15, 10, 6, 29, 5 of the robotic group, versus 15, 19, (62±11)years, (22.4±2.8)kg/m 2, 4, 18, 12, 2, 19, 7, 6, 30, 4 of the laparoscopic group, showing no significant difference between the two groups ( χ2=0.236, t=0.127, 0.044, χ2=1.071, 1.200, 0.000, P>0.05). (2) Intraoperative and postoperative situations: after propensity score matching, the operation time, volume of intraoperative blood loss, cases undergoing conversion to open surgery, time to postoperative initial out-of-bed activities, time to postoperative first flatus, time to postoperative initial liquid food intake, duration of postoperative hospital stay and treatment expenses were (235±50)minutes, (73±45)mL, 0, (1.9±0.7)days, (2.9±1.2)days, (3.1±2.4)days, (9.1±4.9)days, (9.6±1.8)×10 4 yuan of the robotic group, versus (183±35)minutes, (74±74)mL, 1, (2.1±0.6)days, (3.3±1.4)days, (3.5±4.2)days, (9.1±3.9)days, (6.3±1.6)×10 4 yuan of the laparoscopic group, respectively. There were significant differences in the operation time and treatment expenses between the two groups ( t=5.050, 8.165, P<0.05) while there was no significant difference in the volume of intraoperative blood loss, time to postoperative initial out-of-bed activities, time to postoperative first flatus, time to postoperative initial liquid food intake or duration of postoperative hospital stay between the two groups ( t=0.118, ?0.462, ?1.129, ?1.291, 0.027, P>0.05). There was no significant difference in the conversion to open surgery between the two groups ( P>0.05). Five patients of the robotic group and 7 patients of the laparoscopic group had postoperative complications. There was no significant difference in the postoperative complications between the two groups ( χ2=0.405, P>0.05). (3) Postoperative pathological examination: after propensity score matching, cases with R 0 resection, the number of lymph node dissected, cases with lymph node metastasis and cases with tumor differentiation as well differentiated adenocarcinoma, moderately differentiated adeno-carcinoma, poorly differentiated adenocarcinoma or mucinous adenocarcinoma were 34, 17±5, 14, 1, 22, 6, 5 of the robotic group, versus 34, 17±5, 12, 2,20, 2, 10 of the laparoscopic group, respectively. There was no significant difference in the R 0 resection between the two groups ( P>0.05) and there was no significant difference in the number of lymph node dissected, lymph node metastasis and tumor differentiation between the two groups ( t=0.488, χ2=0.249, 4.095, P>0.05). (4) Follow-up: after propensity score matching, 68 patients were followed up for 1?36 months, with a median follow-up time of 24 months. The follow-up time was (20±13)months of the robotic group, versus (21±13)months of the laparoscopic group, showing no significant difference between the two groups ( t=0.409, P>0.05). During the follow-up, 3 cases of the robotic group and 4 cases of the laparoscopic group had tumor distant metastasis. The disease-free survival rate and overall survival rate at postoperative 3 years were 83.9% and 86.8% of the robotic group, versus 82.0% and 86.6% of the laparoscopic group, showing no significant difference between the two groups ( χ2=0.188, 0.193, P>0.05). Conclusion:Da Vinci robotic assisted CME for right hemicolon cancer is safe and feasible.

Objective By making biomechanical analysis of double poling (DP) technique on uphill terrain used by Chinese male cross-country (XC) skiers, to characterize biomechanical differences in DP for skiers at different levels, and determine the influence from motion techniques of skiers on their sports performance. Methods Twenty-four male XC skiers who participated in the 15 km classical race at the Beishan ski resort in Jilin, China, on Sept. 11-12, 2019 were selected in this study. On the basis of their race performance, they were divided into faster skiing group (n=12) and slower skiing group (n=12). The kinematic variables of the skiers were obtained by three-dimensional (3D) shooting, and the differences in cycle characteristics, action phases and key technique variables for skiers in two groups were analyzed. Results Faster skiers had a faster DP velocity. There was a positive correlation between swing distance and velocity. The swing distance was positively correlated with average angular velocity of elbow extension in poling phase, average angular velocity of shoulder extension in swing phase, and range of motion (ROM) of shoulder abduction. The swing distance was negatively correlated with extension of the elbow in poling phase. All the above variables showed statistical differences between faster and slower skiers. Conclusions For a long distance competition, the difference in DP velocity on uphill terrain was mainly casued by the difference in swing distance, which originated from the swing phase. Faster skier had a longer swing distance. The differences in the swing distance came mainly from the shoulder and elbow joints. Therefore, slower XC skiers in China should strengthen muscle strength of the upper limbs, especially the shoulder and elbow joint strength. More forward body leaning and larger hip and knee flexion angle at pole plant might help the skier to cover more distance.