Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.

Objective:To explore the feasibility of transvaginal core needle biopsy for pelvic masses under finger guidance during a vagino-recto-abdominal examination.Methods:The clinicopathological data and follow-up information of 29 patients with pelvic masses who underwent transvaginal core needle biopsy under finger guidance during a vagino-recto-abdominal examination at Affiliated Hospital of Southwest Medical University from January 2020 to July 2024 were collected, and the safety and diagnostic accuracy of the procedure were retrospectively analyzed.Results:(1) A total of 29 patients with pelvic masses were enrolled in this study, with a median age of 50 years (range: 29-73 years), and a median tumor diameter of 3.9 cm (range: 2.7-13.3 cm). Among these patients, 7 were newly diagnosed, and 22 were follow-up. The pre-procedure disease types included 21 patients (72%, 21/29) cervical cancer, 6 patients (21%, 6/29) epithelial ovarian cancer, and 2 patients (7%, 2/29) other suspected gynecologic tumors. (2) Among 29 patients with pelvic masses, 8 cases (28%, 8/29) were diagnosed with benign diseases according to core needle biopsy pathological findings, and 1 case suggested possible residual cervical cancer in the parametrial region by contrast-enhanced magnetic resonance imaging after radical chemoradiotherapy 3 months, while the result of core needle biopsy for this patient was negative, with follow-up after 1 year revealed progression of the lesion in the right parametrial area. Another patient underwent fine-needle aspiration cytology, which suggested gastrointestinal stromal tumor, requiring differentiation from endometriosis, and core needle biopsy pathology confirmed endometriosis, with follow-up at 6 months revealed no evidence of malignancy in this patient. The remaining 6 patients with benign diagnoses had follow-up periods exceeding 1 year without imaging or clinical evidence of local lesion progression or malignancy. Among the 21 patients (72%, 21/29) diagnosed with malignant tumors by core needle biopsy, 14 cases were suspected cases of residual or recurrent cervical cancer, 6 cases had advanced ovarian cancer, and 1 case had rectal cancer metastasis, with all biopsy diagnoses being consistent with preoperative clinical findings and imaging results. The overall diagnostic accuracy of the core needle biopsy was 97% (28/29). Among the 7 newly diagnosed patients, the diagnostic accuracy was 7/7, while it was 95% (21/22) for the 22 follow-up patients, with no statistically significant difference observed between the two groups ( P=1.000). (3) All 29 patients with pelvic masses successfully underwent transvaginal core needle biopsy guided by vagino-recto-abdominal examination. Among them, 28 cases (97%, 28/29) reported tolerable pain during the procedure, while 1 case (3%, 1/29) experienced transient syncope at the end of the procedure due to pain, which resolved within seconds. Vaginal bleeding exceeding 50 ml occurred in 3 patients (10%, 3/29) during paracervical tissue sampling, with the maximum blood loss being 150 ml, and hemorrhage was successfully controlled using vaginal tamponade. The overall incidence of adverse events during the core needle biopsy procedure was 14% (4/29). Conclusion:Transvaginal core needle biopsy for pelvic masses guided by vagino-recto-abdominal examination is a simple, safe, and accurate diagnostic method, suitable for patients with gynecologic malignancies, non-gynecologic malignancies suspected of pelvic mass metastasis, and other benign pelvic lesions.

To analyze the epidemiological characteristics of COVID-19 in Fujian Province from the 49th week of 2022 to the 5th week of 2023,after further optimization of China's COVID-19 prevention and control measures on December 7,2022(the 49th week of 2022),this study used multi-dimensional surveillance data to dynamically assess population infection levels and their changing trends.The aim of the study was to provide a scientific basis for early warning of epidemic risk,medical resource allocation,and evalu-ation of socio-economic impact.A multi-source data surveillance system was constructed,encompassing surveillance of fever clinics at medical institutions(weekly collection of visits,positive nucleic acid and antigen test results,inpatients,and severe cases in sec-ondary or above hospitals),population nucleic acid test monitoring(weekly person-times and positivity rates of single-tube tests from the provincial system),sentinel hospital monitoring(weekly proportion of influenza-like illness visits at 18 sentinel hospitals and re-lated viral testing data),and monitoring of novel coronavirus variants(weekly systematic collection of genomic sequences of local and imported cases).Line charts were plotted weekly,and time series analysis,molecular epidemiological methods,and an improved SEIAR model were used to simulate epidemic spread.During the study period,the COVID-19 epidemic in Fujian Province exhibited three distinct stages.In the infection peak stage(52nd week of 2022),the provincial fever clinic visits reached 606 893 person-times,and a 49.2%positivity rate in population single-tube nucleic acid tests and 63.8%positivity rate in sentinel hospital monitoring were observed.In the medical load peak stage(2nd week of 2023),274 460 inpatients and 28 487 severe cases were recorded.In the epidemic decline stage(4th to 5th weeks of 2023),fever clinic visits decreased by 96.3%with respect to the peak,the single-tube nucleic acid test positivity rate decreased to 6.3%,and the sentinel hospital COVID-19 nucleic acid test positivity rate was 6.4%.All 508 sequenced local cases were Omicron variants,predominantly BA.5.2 and its sub-lineages(67.4%).Among 56 imported se-quenced cases,BA.5.2 and its sub-lineages accounted for 50.0%,and 16.1%comprised nine variants of interest including XBB and BQ.The model predicted the infection peak in the 52nd week of 2022,whereas the hospitalization peak lagged by approximately 10.6 days.Multi-source data monitoring revealed a three-stage development of the COVID-19 epidemic in Fujian.The BA.5.2 strain was dominant during the epidemic.The combination of multi-source monitoring data and modeling provides important references for epi-demic prevention and control,and highlights the need to improve the monitoring system in follow-up.

To analyze the epidemiological characteristics of COVID-19 in Fujian Province from the 49th week of 2022 to the 5th week of 2023,after further optimization of China's COVID-19 prevention and control measures on December 7,2022(the 49th week of 2022),this study used multi-dimensional surveillance data to dynamically assess population infection levels and their changing trends.The aim of the study was to provide a scientific basis for early warning of epidemic risk,medical resource allocation,and evalu-ation of socio-economic impact.A multi-source data surveillance system was constructed,encompassing surveillance of fever clinics at medical institutions(weekly collection of visits,positive nucleic acid and antigen test results,inpatients,and severe cases in sec-ondary or above hospitals),population nucleic acid test monitoring(weekly person-times and positivity rates of single-tube tests from the provincial system),sentinel hospital monitoring(weekly proportion of influenza-like illness visits at 18 sentinel hospitals and re-lated viral testing data),and monitoring of novel coronavirus variants(weekly systematic collection of genomic sequences of local and imported cases).Line charts were plotted weekly,and time series analysis,molecular epidemiological methods,and an improved SEIAR model were used to simulate epidemic spread.During the study period,the COVID-19 epidemic in Fujian Province exhibited three distinct stages.In the infection peak stage(52nd week of 2022),the provincial fever clinic visits reached 606 893 person-times,and a 49.2%positivity rate in population single-tube nucleic acid tests and 63.8%positivity rate in sentinel hospital monitoring were observed.In the medical load peak stage(2nd week of 2023),274 460 inpatients and 28 487 severe cases were recorded.In the epidemic decline stage(4th to 5th weeks of 2023),fever clinic visits decreased by 96.3%with respect to the peak,the single-tube nucleic acid test positivity rate decreased to 6.3%,and the sentinel hospital COVID-19 nucleic acid test positivity rate was 6.4%.All 508 sequenced local cases were Omicron variants,predominantly BA.5.2 and its sub-lineages(67.4%).Among 56 imported se-quenced cases,BA.5.2 and its sub-lineages accounted for 50.0%,and 16.1%comprised nine variants of interest including XBB and BQ.The model predicted the infection peak in the 52nd week of 2022,whereas the hospitalization peak lagged by approximately 10.6 days.Multi-source data monitoring revealed a three-stage development of the COVID-19 epidemic in Fujian.The BA.5.2 strain was dominant during the epidemic.The combination of multi-source monitoring data and modeling provides important references for epi-demic prevention and control,and highlights the need to improve the monitoring system in follow-up.

Objective:To explore the feasibility of transvaginal core needle biopsy for pelvic masses under finger guidance during a vagino-recto-abdominal examination.Methods:The clinicopathological data and follow-up information of 29 patients with pelvic masses who underwent transvaginal core needle biopsy under finger guidance during a vagino-recto-abdominal examination at Affiliated Hospital of Southwest Medical University from January 2020 to July 2024 were collected, and the safety and diagnostic accuracy of the procedure were retrospectively analyzed.Results:(1) A total of 29 patients with pelvic masses were enrolled in this study, with a median age of 50 years (range: 29-73 years), and a median tumor diameter of 3.9 cm (range: 2.7-13.3 cm). Among these patients, 7 were newly diagnosed, and 22 were follow-up. The pre-procedure disease types included 21 patients (72%, 21/29) cervical cancer, 6 patients (21%, 6/29) epithelial ovarian cancer, and 2 patients (7%, 2/29) other suspected gynecologic tumors. (2) Among 29 patients with pelvic masses, 8 cases (28%, 8/29) were diagnosed with benign diseases according to core needle biopsy pathological findings, and 1 case suggested possible residual cervical cancer in the parametrial region by contrast-enhanced magnetic resonance imaging after radical chemoradiotherapy 3 months, while the result of core needle biopsy for this patient was negative, with follow-up after 1 year revealed progression of the lesion in the right parametrial area. Another patient underwent fine-needle aspiration cytology, which suggested gastrointestinal stromal tumor, requiring differentiation from endometriosis, and core needle biopsy pathology confirmed endometriosis, with follow-up at 6 months revealed no evidence of malignancy in this patient. The remaining 6 patients with benign diagnoses had follow-up periods exceeding 1 year without imaging or clinical evidence of local lesion progression or malignancy. Among the 21 patients (72%, 21/29) diagnosed with malignant tumors by core needle biopsy, 14 cases were suspected cases of residual or recurrent cervical cancer, 6 cases had advanced ovarian cancer, and 1 case had rectal cancer metastasis, with all biopsy diagnoses being consistent with preoperative clinical findings and imaging results. The overall diagnostic accuracy of the core needle biopsy was 97% (28/29). Among the 7 newly diagnosed patients, the diagnostic accuracy was 7/7, while it was 95% (21/22) for the 22 follow-up patients, with no statistically significant difference observed between the two groups ( P=1.000). (3) All 29 patients with pelvic masses successfully underwent transvaginal core needle biopsy guided by vagino-recto-abdominal examination. Among them, 28 cases (97%, 28/29) reported tolerable pain during the procedure, while 1 case (3%, 1/29) experienced transient syncope at the end of the procedure due to pain, which resolved within seconds. Vaginal bleeding exceeding 50 ml occurred in 3 patients (10%, 3/29) during paracervical tissue sampling, with the maximum blood loss being 150 ml, and hemorrhage was successfully controlled using vaginal tamponade. The overall incidence of adverse events during the core needle biopsy procedure was 14% (4/29). Conclusion:Transvaginal core needle biopsy for pelvic masses guided by vagino-recto-abdominal examination is a simple, safe, and accurate diagnostic method, suitable for patients with gynecologic malignancies, non-gynecologic malignancies suspected of pelvic mass metastasis, and other benign pelvic lesions.

Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.

Objective:To report four male COL4A5 mutation mosaicism patients with X-linked Alport syndrome, and to provide evidence for diagnosis, genetic counseling, and reproduction in the respective families and improve our knowledge of mosaicism in Alport syndrome. Methods:Suspected male mosaic patients for COL4A5 who met the following criteria: clinical diagnosis of Alport syndrome, harbored COL4A5 mutations detected using next generation sequencing or Sanger sequencing, heterozygosity for the mutant and normal COL4A5 alleles in the DNA demonstrated by Sanger sequencing, registered in the on-line registry of hereditary kidney diseases, and admitted to Peking University First Hospital during the period of April 2018 to April 2019 were enrolled. Clinical data and karyotypes were retrospectively analyzed. Genetic DNA isolated from multiple tissues was analyzed for COL4A5 gene mutations by using PCR and Sanger sequencing. Related literatures published in PubMed, CNKI and Wanfang databases were reviewed. Results:Four COL4A5 somatic and germline mosaic male patients with Alport syndrome were included in the study. Patient 1 was characterized by hematuria and proteinuria. His karyotype of peripheral blood was normal. COL4A5 c.3455-1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and urine). Patient 2 presented with hematuria and microalbuminuria. His karyotype of peripheral blood was normal. COL4A5 c.4994+1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and skin fibroblasts). Patients 3 showed hematuria without proteinuria. COL4A5 c.3535G>A mosaicism was found in genomic DNA of peripheral blood and hair. Laboratory and physical examinations of patient 4 showed hematuria and normal renal function, without proteinuria, megasoma or small testes. COL4A5 c.3106G>A mosaicism was detected in genomic DNA of skin fibroblasts. Although without karyotype analysis due to unavailable specimens, 47,XXY or 46,XY/47,XXY mosaicism was not considered according to the reproductive history and lack of clinical manifestations of megasoma and small testes in patients 3 and 4. Renal disease in 8 published male cases with mosaicism for COL4A5 was affected by mutant allelic fractions and genotype. Conclusions:Compared with hemizygous males with X-linked Alport syndrome, the renal phenotype of mosaic males was milder, and associated with mutant allelic fractions and mutation type.

Objective:To explore the application value of whole genome and high resolution chromosome microarray analysis (CMA) in genetically etiological diagnosis of infants and young children with congenital heart disease (CHD).Methods:The clinical data of 130 infants and young children with CHD who were hospitalized and received CMA test at the Department of Pediatrics, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from January 2016 to December 2018 were retrospectively analyzed.The whole genome CMA test was carried out as per the standard operating procedure of American Affymetrix CytoScan HD platform.The results were analyzed by using chromosome analysis suite (ChAS) software and related bioinformatics.CHD patients were divided into the isolated CHD group and the syndromic CHD group according to whether they had extracardial abnormalities.According to the CHD phenotype features of these 2 groups obtained by anatomical results, patients were divided into the simple CHD group and the complex CHD group.Results:Among 130 CHD infants and young children receiving CMA, there were 60 clinically significant copy number variations (CNVs) detected by CMA in 53 patients, with a diagnostic rate of 40.8%(53/130 cases). The pathogenic CNVs of 32 patients (24.6%) were less than 10 7 bp.There were 29 cases (54.7%) of genetic syndromes related to chromosomal microdeletion or microduplication.22q11.2 microdeletion syndrome, Williams-Beuren syndrome and Wolf-Hirschhorn syndrome were the most common syndromes.The detection rates of pathogenic CNVs between the isolated CHD group [42.8% (30/70 cases)] and the syndromic CHD group [38.3% (23/60 cases)] was not statistically significantly different ( P=0.60). The detection rates of pathogenic CNVs between the simple CHD group [34.4% (20/58 cases)] and the complex CHD group [45.8% (33/72 cases)] was not statistically significantly different ( P=0.19). By genotypic and phenotypic analysis, genes such as SUZ12, DGCR6, YWHAE, CRKL, LZTR1, DLG1, ADAP2 and TBX6 were identified as potential candidate pathogenic genes of CHD. Conclusions:CMA has important application value in CHD in infants and young children.It is recommended that CMA should be used as the first-line genetic detection technology for CHD infants and children.CHD patients of various types should be tested by CMA.

Objective:To analyze the consistency of the clinical phenotype of Alport syndrome between monozygotic twins.Methods:This retrospective study included identical twins with Alport syndrome who met the inclusion and exclusion criteria and were admitted to Peking University First Hospital from January 2000 to March 2019. Their clinical data and urinary epidermal growth factor (uEGF) level were extracted from the on-line registry system of hereditary kidney diseases, and analyzed retrospectively.Results:Three pairs of monozygotic twins with X-linked Alport syndrome from three non-consanguineous families were included. The consistency of the genotype status between the twins tended to confirm their monozygotic relationship. The first twins were term infants, and the twin 1A had a normal birth weight (2 500 g) while twin 1B was small for gestational age (2 450 g) . The other two pairs of twins were preterm, with different birth weights between twins 2 (2A is 2 450 g, 2B is 1 900 g) , but similar birth weights between twins 3. Although raised in the same environment, compared with twin 1A, 1B had obvious growth retardation. However, growth rate in the remaining twins were consistent. The renal abnormalities were not exactly the same between both twins 1 and twins 2, but was almost the same in twins 3. Both 1A and 1B were characterized by massive proteinuria and renal dysfunction, whereas 1B had worse renal function. At the last follow-up, 1A was diagnosed with stage 3 of chronic kidney disease (CKD) whereas 1B was CKD stage 4. Although renal function in twins 2 were normal, 2A had prominent proteinuria(24 h urinary total protein: 0.22 g) while 2B only had microalbuminuria(urinary albumin-to-creatinine ratio: 65 mg/g). Compared with the age-matched healthy controls, the concentration of uEGF normalized by urine creatinine (uEGF/Cr) were significantly lower in these twins. Besides, the twin-boy who had lower estimated glomerular filtration rates had lower uEGF/Cr. However, the extrarenal manifestations such as ocular and acoustic abnormalities were similar between the twins. Twins 2 and 3 showed bilateral temporal retinal thinning, and twins 1 both had binaural mild mid-low frequency sensorineural deafness.Conclusions:Renal manifestations of X-linked Alport syndrome in monozygotic twins may differ from each other, whereas the extrarenal manifestations including ocular and acoustic abnormalities may be consistent. Low birth weight and growth retardation may be associated with the progression of renal dysfunction.

Objective: To study the etiological characteristics of an imported Chikungunya fever (CHIK) epidemic in Fujian province in 2018. Methods: Serum samples collected at different days after the onset of the two CHIK cases were detected by real-time RT-PCR and ELISA. Structural protein E1 gene was amplified by RT-PCR and sequenced for nucleotide characteristics analysis and phylogenetic tree analysis. Results: RNA of Chikungunya virus (CHIKV) was detected in the 4 serum samples collected on the first 5 days of the disease, and the earliest IgM antibodies were detected in specimens on the 5th day of the disease, however, IgG antibodies were only detected in specimen on 10th day. Compared with the S27-African prototype strain, 12 mutant points were found in the amino acids of E1 genes in this study. The E1 genes of the two CHIK cases were exactly the same, and they were closest to the evolutionary relationship with the strain isolated in the Philippines in 2014. Their genotype was Asian genotype. Conclusions This epidemic was confirmed to have been imported from the Philippines after the infection with the Asian genotype CHIKV, which suggests that Fujian province should strengthen the monitoring of persons entering from the CHIK epidemic area, so as to prevent imported cases from causing local outbreaks.