Objective:To analyze the intrauterine ultrasound manifestations and postnatal follow-up outcomes of fetuses with 2q13 microdeletion.Methods:This retrospective study involved 23 cases of 2q13 microdeletion, diagnosed via amniotic fluid chromosome karyotyping and single nucleotide polymorphism-array (SNP-array) following amniocentesis, between January 1, 2018, and September 1, 2022, at Wuxi Maternity and Child Health Care Hospital. Descriptive statistical analysis was applied to prenatal diagnostic indications, intrauterine ultrasound findings, prenatal diagnosis results, and postnatal follow-up outcomes.Results:(1) The prenatal diagnostic indications for the 23 cases of 2q13 microdeletion included seven cases (30.4%) of high-risk serological screening, six cases (26.1%) of increased nuchal translucency (NT), two cases (8.7%) of fetal heart defects, two cases (8.7%) of advanced maternal age, two cases (8.7%) of fetal choroid plexus cysts (one of which was also associated with high-risk serological screening), one case (4.3%) of suboptimal fetal nasal bone fusion, one case (4.3%) of non-invasive prenatal testing suggesting chromosomal abnormalities, one case (4.3%) of fetal obstructive polycystic kidneys, one case (4.3%) of fetal subependymal cysts, and one case (4.3%) of fetal growth restriction. (2) Intrauterine ultrasound findings included six cases (26.1%) of NT thickening, four cases (17.4%) of intrauterine growth restriction, two cases (8.7%) of fetal heart defects, two cases (8.7%) of choroid plexus cysts, one case (4.3%) of oligohydramnios, one case (4.3%) of suboptimal fetal nasal bone fusion, one case (4.3%) of short long bones in the fetus, one case (4.3%) of polyhydramnios with large fetal abdominal circumference, one case (4.3%) of large fetal abdominal circumference, short long bones, and subependymal cysts of the brain ventricles, and one case (4.3%) of fetal obstructive polycystic kidneys; the remaining six cases (26.1%) showed no abnormal ultrasound findings. (3) Chromosome karyotyping revealed three cases of chromosomal structural abnormalities, one case of sex chromosome numerical abnormalities, and the remaining 19 cases showed no abnormalities. Amniotic fluid SNP-array results indicated deletions ranging from 104 to 1 745 kb. Parental verification was performed in ten cases, showing maternal inheritance in four cases, paternal inheritance in five, and one case of a de novo mutation. (4) Four cases (17.4%) opted for pregnancy termination, while 19 cases (82.6%) resulted in live births. The 19 live-born children underwent telephone and child health follow-up, with ages at follow-up being 3 years (ranging from 9 to 58.8 months). Apart from two cases that did not undergo newborn congenital heart disease screening, the remaining 17 surviving infants were screened without any abnormalities. Five cases had abnormal growth and development during follow-up: one 18-month-old with mild language developmental delay, one 3-year-old plus 26 days with mild language developmental delay, one 18-month-old with language developmental delay, one 3-year-old with astigmatism, and one 30-month-old with refractive error in both eyes during a physical examination; the other 14 children showed no significant abnormalities in growth and development. Conclusions:The intrauterine ultrasound manifestations of fetuses with 2q13 microdeletion are non-specific, and most of them are inherited from their parents. Postnatal follow-up should pay attention to the development of the nervous system of children.

OBJECTIVE: N6-methyladenosine (m ⁶A) is a common epigenetic modification in eukaryotes. In this study, we explore the potential impact of m ⁶A-associated single nucleotide polymorphisms (m ⁶A-SNPs) on heart failure (HF). METHODS: Data from genome-wide association studies (GWAS) investigating HF in humans and from m ⁶A-SNPs datasets were used to identify HF-associated m ⁶A-SNPs. Their functions were explored using expression quantitative trait locus (eQTL), gene expression, and gene enrichment analyses. Mediation protein quantitative trait locus (pQTL)-Mendelian randomization (MR) was used to investigate the potential mechanism between critical protein levels and risk factors for HF. RESULTS: We screened 44 HF-associated m ⁶A-SNPs, including 10 m ⁶A-SNPs that showed eQTL signals and differential expressions in HF. The SNP rs1801270 in CDKN1A showed the strongest association with HF ( P = 7.75 × 10 ^-6). Additionally, MR verified the genetic association between the CDKN1A protein and HF, as well as the mediating effect of blood pressure (BP) in this pathway. Higher circulating level of CDKN1A was associated with a lower risk of HF (odds ratio [ OR] = 0.82, 95% confidence interval [ CI]: 0.69 to 0.99). The proportions of hypertension, systolic BP, and diastolic BP were 48.10%, 28.94%, and 18.02%, respectively. Associations of PDIA6 ( P = 1.30 × 10 ^-2) and SMAD3 ( P = 4.80 × 10 ^-2) with HF were also detected. CONCLUSION Multiple HF-related m ⁶A-SNPs were identified in this study. Genetic associations of CDKN1A and other proteins with HF and its risk factors were demonstrated, providing new ideas for further exploration of the molecular mechanisms of HF.
Humans ; Polymorphism, Single Nucleotide ; Heart Failure/genetics* ; Mendelian Randomization Analysis ; Genome-Wide Association Study ; Cyclin-Dependent Kinase Inhibitor p21/metabolism* ; Quantitative Trait Loci ; Adenosine/metabolism* ; Male ; Female ; Genetic Predisposition to Disease

Rats ; Animals ; Astrocytes ; Exosomes/metabolism* ; Brain Injuries, Traumatic/metabolism* ; Biological Transport

Objective:To construct an evaluation index system for continuous nursing outcomes of patients undergoing knee arthroplasty.Methods:From January to May 2022, a preliminary draft of the index system was developed based on literature research, semi-structured interviews, and group discussions. We developed a questionnaire and conducted two rounds of consultation with 15 experts using the Delphi expert consultation method to construct the final index system. The positivity of experts was expressed by the effective recovery rate of the questionnaire. The expert authority coefficient was represented by the arithmetic mean of the expert's judgment basis and familiarity with the indicator. The coordination of expert opinions was represented by the Kendall's W. Results:Around two rounds of consultation, the effective recovery rates of the questionnaire were 100.0% (15/15) and 93.3% (14/15), respectively, and the expert authority coefficients were 0.815 and 0.860, respectively, and the expert Kendall's W were 0.297 and 0.121 ( P<0.01). The final evaluation index system for continuous nursing outcomes of patients undergoing knee arthroplasty included 3 primary indicators, 7 secondary indicators, and 47 tertiary indicators. Conclusions:The evaluation index system for continuous nursing outcomes of patients undergoing knee arthroplasty is strongly scientific and reliable, and has guiding significance for standardizing the continuous nursing of knee arthroplasty patients.

Objective:To explore the efficacy and influencing factors of radiofrequency ablation (RFA) in the treatment of colorectal cancer liver metastases (CRLM).Methods:The clinical and imaging data of 281 patients (477 intrahepatic metastatic tumors) who received percutaneous RFA treatment in Sir Run Run Shaw Hospital, Zhejiang University School of Medicine from December 2009 to December 2020 were retrospectively analyzed. Factors that may affect the efficacy of RFA were recorded, including carcinoembryonic antigen (CEA), differentiation, extrahepatic metastasis, tumor location and size, complications and other information. Patients were followed up through hospital admissions, telephone, etc. The primary endpoints were overall survival (OS) and local tumor progression-free survival (LTPFS). Univariate and multivariate logistic regression models were used to identify predictors of residual tumor. Univariate and multivariate Cox proportional hazards regression were used to identify the influencing factors of LTPFS and OS. The median LTPFS and OS were estimated by the Kaplan-Meier curve and compared by the log-rank test.Results:After RFA, 68 (14.3%) tumor residues were observed. Multivariate logistic regression showed that the risk factors for residual tumor were size ≥20 mm, high-risk and perivascular location, and minimal ablative margin<5 mm. During the follow-up period, the main complication rate was 4.3% (12/281) and the fatality rate was 31.3% (88/281). At the same time, local tumor progression was found in 167 (35.0%) lesions post-RFA. The median time of LTPFS and OS estimated by the Kaplan Meier method were 35.0 (95%CI 26.53-43.48) and 44.0 (95%CI 29.70-58.30) months, respectively. The cumulative proportion of LTPFS and OS were 37.2% and 40.4% respectively in the 5th year. Multivariate Cox proportional hazard regression showed that CEA≥30 ng/ml, tumor size ≥20 mm, and minimal ablative margin<5 mm were risk factors for LTPFS; extrahepatic metastasis, tumor burden>30 mm, and lesion with minimal ablative margin<5 mm were independent risk factors for OS; re-intervention was an independent protective factor for OS.Conclusions:Adequate ablative margin and less tumor burden were beneficial to local tumor control and long-term survival of patients in the RFA treatment; the existence of extrahepatic metastasis was an important risk factor for OS, and re-interventional therapy was beneficial to extend OS.

Objectives:To observe the possibility of enlarging the greater sciatic notch by illium osteotomy through the posterior gluteal approach for reaching the intrapelvic upper sacral plexus as well as the covergence level of sacral plexus,and performing the nerve graft for surgical repairing the sacral plexus ruptured injuries or sacral plexus nerve tumor resection.Methods:The clinical data of 10 patients with sacral plexus injury or sacral plexus nerve tumor underwent the surgical operation via the expanded greater sciatic notch at Department of Hand Surgery,Beijing Jishuitan Hospital from July 2016 to November 2020 were retrospectively analyzed.There were 4 male and 6 female patients,with an age of (38.0±9.3)years (range:26 to 56 years).There were 8 cases with sacral plexus injury at the intrapelvic or covergence level (deep to the piriformis). Out of this 8 cases,4 cases with intrapelvic pan-sacral plexus injury,1 case with upper sacral plexus injury and 3 cases with convergence level pan sacral plexus injury.Another 2 cases were sacral plexus neoplasm.The average time from injury or onset to operation was 10.4 months (range:1.5 to 60.0 months). All cases were performed surgery for reaching the intrapelvic upper sacral plexus as well as the covergence level of sacral plexus with enlarging the greater sciatic notch by illium osteotomy through the posterior gluteal approach.Intraoperation the sacral plexus ruptured injurie was repaired and the sacral plexus nerve tumor was resected.Intraoperative findings,postoperative complications and healing of incision and osteotomy of patients were recorded.Results:All the 10 patients underwent the sacral plexus surgical exploration and cutaneous nerve graft for sacral plexus nerve repairing or neurolysis or neoplasm resection through the posterior gluteal approach successfully.The length and width of illium osteotomy mass were (2.9±0.4)cm (range:2.5 to 3.8 cm) and (2.5±0.5)cm (range:1.5 to 3.4 cm) respectively.The median intraoperative bleeding volume was ( M( Q R))800(800)ml (range:400 to 2 000 ml).There were no complication with major vascular injury and hematoma formation,and all incisions healed.The postoperative follow-up was 29.8 months (range:1.5 to 54.0 months).Nine cases of iliac osteotomy were healed,and 1 case was not healed because the follow-up was only 1.5 months. Conclusions:The intrapelvic upper sacral plexus and the convergence level of sacral plexus deep to the piriformis can be exposed clearly through this posterior gluteal approach via illium osteotomy for enlarging the greater sciatic notch,and there was enough operative space that surgical exploration and nerve graft or nerve transfer or neoplasm resection can be performed.

Objectives:To observe the possibility of enlarging the greater sciatic notch by illium osteotomy through the posterior gluteal approach for reaching the intrapelvic upper sacral plexus as well as the covergence level of sacral plexus,and performing the nerve graft for surgical repairing the sacral plexus ruptured injuries or sacral plexus nerve tumor resection.Methods:The clinical data of 10 patients with sacral plexus injury or sacral plexus nerve tumor underwent the surgical operation via the expanded greater sciatic notch at Department of Hand Surgery,Beijing Jishuitan Hospital from July 2016 to November 2020 were retrospectively analyzed.There were 4 male and 6 female patients,with an age of (38.0±9.3)years (range:26 to 56 years).There were 8 cases with sacral plexus injury at the intrapelvic or covergence level (deep to the piriformis). Out of this 8 cases,4 cases with intrapelvic pan-sacral plexus injury,1 case with upper sacral plexus injury and 3 cases with convergence level pan sacral plexus injury.Another 2 cases were sacral plexus neoplasm.The average time from injury or onset to operation was 10.4 months (range:1.5 to 60.0 months). All cases were performed surgery for reaching the intrapelvic upper sacral plexus as well as the covergence level of sacral plexus with enlarging the greater sciatic notch by illium osteotomy through the posterior gluteal approach.Intraoperation the sacral plexus ruptured injurie was repaired and the sacral plexus nerve tumor was resected.Intraoperative findings,postoperative complications and healing of incision and osteotomy of patients were recorded.Results:All the 10 patients underwent the sacral plexus surgical exploration and cutaneous nerve graft for sacral plexus nerve repairing or neurolysis or neoplasm resection through the posterior gluteal approach successfully.The length and width of illium osteotomy mass were (2.9±0.4)cm (range:2.5 to 3.8 cm) and (2.5±0.5)cm (range:1.5 to 3.4 cm) respectively.The median intraoperative bleeding volume was ( M( Q R))800(800)ml (range:400 to 2 000 ml).There were no complication with major vascular injury and hematoma formation,and all incisions healed.The postoperative follow-up was 29.8 months (range:1.5 to 54.0 months).Nine cases of iliac osteotomy were healed,and 1 case was not healed because the follow-up was only 1.5 months. Conclusions:The intrapelvic upper sacral plexus and the convergence level of sacral plexus deep to the piriformis can be exposed clearly through this posterior gluteal approach via illium osteotomy for enlarging the greater sciatic notch,and there was enough operative space that surgical exploration and nerve graft or nerve transfer or neoplasm resection can be performed.

【Objective】 To explore the application value of preoperative gastroscopic carbon nanoparticles labeling in patients undergoing laparoscopic radical gastric cancer surgery. 【Methods】 We included cases of laparoscopic radical gastric cancer surgery at The First Affiliated Hospital of Xi’an Jiaotong University from January 2017 to December 2019. Some cases received submucosal injection of carbon nanoparticles under the gastroscope before surgery. The effects of carbon nanoparticles labeling on the number of lymph nodes detected， operation duration and surgical complications were compared and analyzed. 【Results】 A total of 397 patients undergoing laparoscopic radical gastric cancer surgery were enrolled. Among them， 78 cases underwent gastroscopic carbon nanoparticles tracer labeling before operation. No complications were observed. The total number of lymph nodes detected by pathology after surgery in the carbon nanoparticles group significantly increased ［（22.0（4.0） vs. 22.0（3.0）， P=0.033）］ while the operation time significantly reduced ［（185.0±37.48）min vs. （213.4±23.66）min， P<0.001］ compared with those in the control group. New gastric cancer lesions were revealed by gastroscopy in three cases （3.8%） of carbon nanoparticles labeling， and the original planned operation method was changed in two cases （2.6%）. 【Conclusion】 Preoperative endoscopic carbon nanoparticles tracer labeling can not only help shorten the time of laparoscopic radical surgery for gastric cancer and increase the number of total lymph nodes detected for more accurate TNM staging， but also provide an opportunity for the discovery of synchronous multiple gastric cancer.

Objective: To investigate the effects of different doses of aerobic exercise on the microvascular function of habitually sedentary college students. Methods: A total of 69 students from Hubei Minzu University were recruited and divided into sports group A, sports group B and control group, with 23 students in each group (12 boys and 11 girls). The exercise group received 12 weeks of aerobic exercise intervention, in which group A exercised 1-2 times a week, group B exercised≥3 times a week, and the control group did not carry out any systematic sports. Microvascular response, Transcutaneous partial pressure of oxygen(TcpO 2), Nitric oxide, Nitric oxide synthase (NOS) and En dothelin-1 (ET-1) were measured before and after the test. Results: After the test, the microvascular reactivity showed group and time interaction( P <0.01), in which exercise group B was greater than that of control group and exercise group A ( P <0.01). There was no significant difference between exercise group A and control group ( P >0.05), but the percutaneous partial pressure of oxygen ( P =0.53) had no time interaction with other groups; NO( F =6.32) and NOS( F =7.91) had group and time interaction, in which exercise group B was greater than control group and exercise group A ( P <0.01), and there was no significant difference between exercise group A and control group ( P >0.05). Conclusion There is a "dose effect" relationship between aerobic exercise and microcirculatory blood perfusion and endogenous NO. Continuous aerobic exercise ≥3 times a week for 12 weeks improved microcirculatory blood perfusion and promoted endogenous NO production in sedentary college students, but doing aerobic exercise for 1-2 times a week had no significant effect on microcirculatory blood perfusion and endogenous NO.