Objective To explore the clinical features and genetic etiology of two families with hereditary epilepsy.Methods The Clinical data of two hereditary epilepsy families were retrospectively analyzed.Results The proband and his mother in family 1 showed generalized tonic-clonic seizures and intellectual disability.Whole exome sequencing(WES)showed that both proband and his mother carried a heterozygous missense mutation of DEPDC5 gene NM_001242896 exon2:c.20A>G(p.Y7C).The American College of Medical Genetics and Genomics(ACMG)guidelines evaluated this mutation as a possible pathogenic mutation.The proband and his sister in family 2 showed episodic limb convulsions with loss of consciousness.His mother had a history of"epilepsy".WES showed that the proband,his mother and his sister carried the heterozygous missense mutation of CACNA1H gene NM_021098 exon7:c.844G>A(p.E282K).ACMG-related guidelines assessed this mutation as a possible pathogenic mutation.Conclusion DEPDC5 gene NM_001242896 exon2:c.20A>G(p.Y7C)heterozygous missense mutation,CACNA1H gene NM_021098 exon7:c.844G>A(p.E282K)heterozygous missense mutation may be the genetic etiology of generalized tonic-clonic seizures,and both are autosomal dominant inheritance.

Objective To describe the current state of research and future research hotspots through a metrological analysis of the literature in the field of forensic anthropological remains identification re-search.Methods The data retrieved and extracted from the Web of Science Core Collection (WoSCC),the core database of the Web of Science information service platform (hereinafter referred to as "WoS"),was used to analyze the trends and topic changes in research on forensic identification of human re-mains from 1991 to 2022.Network visualisation of publication trends,countries (regions),institutions,authors and topics related to the identification of remains in forensic anthropology was analysed using python 3.9.2 and Gephi 0.10.Results A total of 873 papers written in English in the field of forensic anthropological remains identification research were obtained.The journal with the largest number of publications was Forensic Science International (164 articles).The country (region) with the largest number of published papers was China (90 articles).Katholieke Univ Leuven (Netherlands,21 articles) was the institution with the largest number of publications.Topic analysis revealed that the focus of forensic anthropological remains identification research was sex estimation and age estimation,and the most commonly studied remains were teeth.Conclusion The volume of publications in the field of forensic anthropological remains identification research has a distinct phasing.However,the scope of both international and domestic collaborations remains limited.Traditionally,human remains identifica-tion has primarily relied on key areas such as the pelvis,skull,and teeth.Looking ahead,future re-search will likely focus on the more accurate and efficient identification of multiple skeletal remains through the use of machine learning and deep learning techniques.

This study analyzed the epidemic characteristics and spatial and temporal clustering of leptospirosis in Wenzhou from 2014 to 2023,to provide a scientific basis for prevention and control.Data for leptospirosis cases reported in Wenzhou from 2014 to 2023 were collected.Descriptive epidemiological approaches were used to analyze the cases'prevalence character-istics.Spatial autocorrelation analysis was performed in ArcGIS 10.2 software,and spatiotemporal clusters were scanned with SaTScan 10.1 software.From 2014 to 2023,189 leptospirosis cases were reported in Wenzhou,and the average annual inci-dence rate was 0.23/100 000.Relatively fewer cases occurred in 2014-2018,whereas significantly more cases occurred after 2019,and the largest number of reported cases was reported in 2021(62 cases).The peak incidence was from August to Octo-ber,accounting for 88.36％of the total incidence.The cases were mainly in males,and the sex ratio was 5.30∶1 male:female.Moreover,the cases were mainly in people in their 60s,accounting for 59.26％of total cases,and in people who were farmers,accounting for 72.49％of total cases.Global spatial autocorrelation analysis indicated that cases were randomly distributed from 2014 to 2018,and the incidence showed spatial clustering from 2019 to 2023(Moran's I＞0,P＜0.05).Local spatial autocor-relation and spatiotemporal scanning analysis revealed that leptospirosis cases were concentrated primarily in northern hilly areas of Yongjia County and other inland areas rich in vegetation from 2019 to 2023.In the past 5 years,the number of lepto-spirosis cases in Wenzhou increased,and the incidence of leptospirosis showed clear seasonal and spatial clustering.Cases were mainly in middle-aged and older farmers.Recommendations in-clude expanding the monitoring scope of leptospirosis,and per-forming prevention and control measures such as health education for key groups in key areas before the high-incidence season.

Objective:To investigate the clinical characteristics and survival analysis of myelodysplastic syndromes(MDS)with RUNX1 gene mutation.Methods:Clinical data of 177 newly diagnosed MDS patients admitted to the Department of Hematology,the Second Affiliated Hospital of Air Force Military Medical University from October 1,2015 to October 31,2022 were retrospectively analyzed.Gene mutation detection was performed by second-generation sequencing technology,and clinical characteristics and prognosis of patients with RUNX1 gene mutation were analyzed.Results:A total of 30 cases(16.95％)of RUNX1 gene mutations were detected,including 15 missense mutations(50.0％),9 frameshift deletion mutations(30.0％),4 splice site mutations(13.3％),1 insertion mutation(3.3％),and 1 nonsense mutation(3.3％).Patients with RUNX1 mutations had a median age of 68.5 years at diagnosis(range:62.25-78.50 years old).There were no significantly differences between RUNX1 mutations and wild type patients in age distribution,gender,peripheral blood white blood cell count,hemoglobin level,bone marrow and peripheral blood blasts ratio,IPSS-R cytogenetics,IPSS-R stage,etc.(P＞0.05).However,there were statistically significant differences in platelet count and whether complicated karyotype.Compared with patients without RUNX1 gene mutation,patients with RUNX1 gene mutation had lower platelet count(P=0.018),and were less likely to have complicated karyotype at initial diagnosis(P=0.01).Cox proportional hazards model analysis showed that when other co variates remained unchanged,the higher the platelet count,the better the survival of patients(HR=0.995,95％CI:0.990-0.999,P=0.036);In the IPSS-M prognostic stratification,keeping other covariates unchanged,the risk of progression or death of myelodysplastic syndrome was significantly lower in the medium to high-risk and low-risk groups compared with the high-risk group(HR=0.149,95％CI:0.031-0.721,P=0.018;HR=0.026,95％CI:0.003-0.234,P=0.001).Survival analysis showed that MDS patients with RUNX1 gene mutation had worse overall survival time(P＜0.001).Patients with RUNX1 mutation had worse OS than non-mutation patients in the early WHO group.RUNX1 mutation and IPSS-M risk stratification mean OS and mean LFS were worse in low-risk patients than in non-mutated patients.Conclusion:RUNX1 gene mutation is an adverse prognostic factor in MDS patients,especially in the IPSS-M prognosis stratification group of low-risk,medium-low risk,medium-high risk and WHO classification of early patients.

Objective:To study the predictive value of Barcelona clinic liver cancer (BCLC) staging system combined with albumin-indocyanine green (ALICE) score (ALICE-BCLC) in hepatectomy for hepatocellular carcinoma, and compare it with BCLC staging system combined with Child-Pugh score (CP-BCLC).Methods:The clinical data of 311 patients with hepatocellular carcinoma who underwent hepatectomy at Jinhua Hospital Affiliated to Zhejiang University from April 2012 to June 2021 were analyzed retrospectively. There were 271 males and 40 females, with a median age of 59 years old (range 26 to 92 years old). These patients were divided into two groups based on the ALICE-BCLC: the ALICE-BCLC grade 0 group ( n=63) and the ALICE-BCLC grade A group ( n=248); and another two groups based on the CP-BCLC: the CP-BCLC grade 0 group ( n=58) and the CP-BCLC grade A group ( n=253). The clinical data, including indocyanine green retention rate at 15 min, and albumin were collected and the scores were calculated. Follow-up was conducted by combining outpatient visits with telephone calls. The survival rate was calculated by the life method, and survival curves were drawn by the Kaplan-Meier method. The multivariate Cox regression model was used to determine the main factors affecting prognosis. Weighted Kappa was used to compare consistency of the two staging systems. Results:Multivariate analysis showed that a maximum tumor diameter >5 cm, total bilirubin >18 μmol/L, major hepatectomy, CP-BCLC grade A and ALICE-BCLC grade A to be independent risk factors affecting overall survival of patients with hepatocellular carcinoma after liver resection with curative intent (all P<0.05). The median survival of patients in the CP-BCLC grade 0 group and the CP-BCLC grade A group were 43.0 and 28.0 months, respectively. There was a significant difference between the two groups ( P=0.017). The median survival of patients in the ALICE-BCLC grade 0 group and the ALICE-BCLC grade A group were 41.4 and 28.1 months, respectively. There was a significant difference between the two groups ( P=0.035). The weighted Kappa coefficient of ALICE-BCLC and CP-BCLC was 0.949, showing a strong consistency ( P<0.001). Conclusion:ALICE-BCLC showed a good predictive value for prognosis of hepatocellular carcinoma after liver resection, and it had a similar overall prognostic discrimination ability as CP-BCLC.

Objective:To explore prognostic factors of intraductal papillary mucinous neoplasm of the bile duct (IPMN-B) patients.Methods:Clinical data on 227 patients with IPMN-B between 2004 and 2015 were retrospectively collected from the surveillance, epidemiology, and end results (SEER) database. There were 126 male and 101 female patients with the age at diagnosis of 69(58, 77) years old. IPMN-B patients were divided into two groups based on whether surgical treatment was performed. There were 129 patients in the surgery group and 98 patients in the non-surgery group. The survival analyses were assessed by Kaplan-Meier analyses and log-rank test was used to compared survival rate. The univariate and multivariate Cox analyses were applied to find independent prognostic factors of the survival in IPMN-B patients.Results:The tumor size of 227 IPMN-B patients from the SEER database was 25(18.5, 45.0) mm. The differences of tumor size, grade of defferentiation, American Joint Committee on Cancer (AJCC) stage, T stage, M stage chemotherapy were statistically significant respectively in surgery group and non-surgery group (all P<0.05). The median overall survival time (OS) of patients with IPMN-B was 14 months and the overall 1-year survival was 53.4%. The median overall survival time of IPMN-B patients in surgery group was 27 months, which was better than 5 months of patients in non-surgery group, and the difference was statistically significant ( P<0.001). Univariate Cox analysis found AJCC stage, T stage, N stage, M stage and surgery were prognostic factors in patients with IPMN-B. Multivariate Cox analysis showed that M1 stage ( HR=2.125, 95% CI: 1.472-3.066, P<0.001) was independent risk factor of prognosis while surgery ( HR=2.983, 95% CI: 2.106-4.224, P<0.001) was independent protective factor of prognosis. Conclusion:The AJCC staging system is an important predictor for evaluating the prognosis of IPMN-B patients. Surgery could significantly improve the prognosis of patients with IPMN-B.

Objective:To explore the clinical efficacy of Masquelet technique combined with tissue flap transfer in the treatment of infectious composite bone and soft tissue defects in the early and middle stages after internal fixation for tibial fractures.Methods:From October 2017 to November 2020, 12 patients (13 tibial fractures) with infectious bone and soft tissue defects in the early and middle stages after internal fixation were treated in the Department of Orthopaedics, 988th Hospital of the Joint Logistics Support Force of CPLA by two-phased surgery with retaining internal fixation. Phase I procedures were thoroughly removal of the infected lesions and failed screws, preserving internal implants as many as possible, implantation of absorbable calcium sulphate and an antibiotics blended string of beads into the distal and proximal medullary cavity of the fractured bones, filling the bone defect and wrapping the internal implants with antibiotics loaded bone cement. The size of defects was 3.5 cm × 5.0 cm-7.5 cm × 14.5 cm, and the flaps for wound coverage sized 4.0 cm × 5.5 cm-8.0 cm × 15.0 cm. As for the repair of donor site, 8 limbs were sutured directly, 5 limbs could not be closed completely, and the remaining wounds were covered by skin grafting after suture. Based on well control of infection and stable clinical signs, fillings of bone cement were then removed in Phase II surgery, or 6-9 weeks after primary surgery. Autologous cancellous bone pieces or composite allogeneic bone were fully implanted around the induction membrane formed by Masquelet technique, and auxiliary steel plates were implanted for internal fixation of unstable fractures. After discharge, the patients visited the outpatient clinic regularly, and combined with Wechat follow-up. The texture, colour and bone healing were observed. At the last follow-up, the function of the affected limbs were assessed according to Johner-Wruhs evaluation standard.Results:After Phase I surgery, 13 flaps survived smoothly without vascular compromise. The wounds healed in Phase I. Two patients (2 sides) had recurrent infections. Re-debridement was performed and external fixation was applied after removal of internal fixation. After Phase II surgery, all patients were included in 12-26 months of follow-up, with an average of 18 months. Thirteen lower leg fractures healed well, and the time of bone healing was 16-25 (average 19.5) weeks. The Johner Wruhs criteria was used in evaluation of the function of affected limbs, and it was found that 6 patients were in excellent, 5 in good and 2 in fair.Conclusion:It is feasible while preserving the internal implants, to use membrane induction technique (Masquelet technique) combined with flap transfer, together with the absorbable calcium sulphate antibiotic sustained-release beads as a carrier in the phased treatment of infectious bone defects and bone exposure in the early and middle stages after the surgery of tibial internal fixation. It also gives a higher rate of excellence in surgical outcome. This study explores a treatment procedure for traumatic bone infection combined with composite soft tissue defects.

The discussion and research on the clinical dominant diseases of traditional Chinese medicine （TCM） have attracted increasing attention. Through approaches including modern technology， evidence-based medical methods， and multi-disciplinary treatment， we should construct a sound TCM inheritance and innovation system， establish a collaborative innovation mechanism， and integrate major research projects， striving to make breakthroughs in TCM theory， methodology， standards， and regulation system， promoting the scientific and technological progress of TCM， and thereby improving its curative effect. The China Association of Chinese Medicine （CACM） carried out a series of youth salon seminars for clinical dominant diseases in TCM， discussing and sorting out the advantages of the dominant diseases in clinical diagnosis and treatment of TCM and integrated traditional Chinese and western medicine in specific diseases or fields. Authoritative experts in the industry were invited to give comment and guidance to form a report. Centering on clinical research of dominant diseases， thematic research was carried out in the aspects of practice， human experience-based evidence， and transformation path. Through the systematic study of the dominant diseases， the advantages of TCM in different stages of disease treatment were excavated to constantly improve the prevention and treatment ability of TCM and carry forward the advancement of TCM theory and practice. At the same time， the communication and understanding between traditional Chinese and western medicine were improved， laying the foundation for the further formation of industry guidelines or consensus and comprehensive promotion. These seminars are expected to provide references for the development of policy planning， clinical diagnosis and treatment， health economy， and social services in TCM and lay the foundation for the formation of a new modern diagnosis and treatment system with Chinese characteristics.

The wound mechanism, injury characteristics and treatment principles of anti-armored vehicle ammunition against armored crew in the past 20 years are summarized in this paper. Shock vibration, metal jet, depleted uranium aerosol and post armor breaking effect are the main factors for wounding armored crew. Their prominent characteristics are severe injury, high incidence of bone fracture, high rate of depleted uranium injury, and high incidence of multiple/combined injuries. During the treatment, attention must be paid on that the space of armored vehicle is limited, and the casualties should be moved outside of the cabin for comprehensive treatment. Especially, the management of depleted uranium injury and burn/inhalation injury are more important than other injuries for the armored wounds.
Humans ; Uranium/analysis* ; Respiratory Aerosols and Droplets ; Motor Vehicles ; Burns/therapy* ; Multiple Trauma

Objective: To explore the effects of porcine acellular dermal matrix (ADM) combined with human epidermal stem cells (ESCs) on wound healing of full-thickness skin defect in nude mice. Methods: The morphology of porcine ADM was analyzed by photograph of digital camera, the cell residues in porcine ADM were observed by hematoxylin-eosin (HE) staining, the surface structure of porcine ADM was observed by scanning electron microscope, the secondary structure of porcine ADM was analyzed by infrared spectrometer, the porcine ADM particle size was analyzed by dynamic light scattering particle size analyzer, and the porcine ADM potential was analyzed by nano-particle size potentiometer. The morphology of porcine ADM was observed by inverted fluorescence microscope when it was placed in culture medium for 30 min, 1 d, and 5 d (n=2). The porcine ADM was divided into 5 min group, 10 min group, 20 min group, 30 min group, 60 min group, and 120 min group according to the random number table (the same grouping method below) in static state at normal temperature for the corresponding time to calculate the water absorption by weighing method (n=3). Swiss white mouse embryonic fibroblasts (Fbs) were divided into blank control group (culture medium only), and 50.0 g/L ADM extract group, 37.5 g/L ADM extract group, 25.0 g/L ADM extract group, 12.5 g/L ADM extract group, and 6.5 g/L ADM extract group which were added with the corresponding final concentrations of ADM extract respectively. At post culture hour (PCH) 24, 48, and 72, the cell survival rate was detected by cell counting kit 8 and the cytotoxicity was graded (n=5). The erythrocytes of a 6-week-old male Sprague-Dawley male rat were divided into normal saline group, ultra-pure water group, and 5 mg/mL ADM extract group, 10 mg/mL ADM extract group, and 15 mg/mL ADM extract group which were treated with the corresponding final concentrations of porcine ADM extract respectively. After reaction for 3 h, the absorbance value of hemoglobin was detected by microplate reader to represent the blood compatibility of porcine ADM (n=3). ESCs were isolated and cultured from the discarded prepuce of a 6-year-old healthy boy who was treated in the Department of Urology of the First Affiliated Hospital of Army Medical University (the Third Military Medical University) in July 2020, and then identified by flow cytometry. The porcine ADM particles of composite ESC (hereinafter referred to as ESC/ADM) were constructed by mixed culture. After 3 days of culture, the composite effect of ESC/ADM was observed by HE staining and laser scanning confocal microscope. Thirty-six 7-8-week-old male non-thymic nude mice were divided into phosphate buffer solution (PBS) alone group, ADM alone group, ESC alone group, and ESC/ADM group, with 9 mice in each group, and the wound model of full-thickness skin defect was established. Immediately after injury, the wounds were treated with the corresponding reagents at one time. On post injury day (PID) 1, 7, 11, and 15, the wound healing was observed and the wound healing rate was counted (n=3). On PID 7, the epithelialization of wounds was observed by HE staining and the length of un-epithelialized wound was measured (with this and the following sample numbers of 4). On PID 11, the dermal area and collagen deposition of wounds were observed by Masson staining and the dermal area of wound section was calculated, the number of cells expressing CD49f, a specific marker of ESC, was calculated with immunofluorescence staining, the mRNA expression of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) in ESC after wound transplantation was detected by real-time fluorescence quantitative reverse transcription polymerase chain reaction. Data were statistically analyzed with independent sample t test, one-way analysis of variance, analysis of variance for repeated measurement, and least significant difference t test. Results: The porcine ADM was white particles and composed of reticular structure, with no cells inside, disordered structure, and rough surface. The absorption peak of porcine ADM appeared at the wave numbers of 1 659, 1 549, and 1 239 cm^-1, respectively. The main particle size distribution of porcine ADM in solution was 500 to 700 nm, with negative charge on the surface. The morphology of porcine ADM in static state at 30 min and on 1 and 5 d was relatively stable. The water absorption of porcine ADM remained relatively high level in static state from 30 min to 120 min. The cytotoxicity of mouse embryonic Fbs in 6.5 g/L ADM extract group, 12.5 g/L ADM extract group, and 25.0 g/L ADM extract group was grade 1 at PCH 24, and the cytotoxicity of the other groups was 0 grade at each time point. After reaction for 3 h, the absorbance value of hemoglobin of erythrocytes in ultra-pure water group was significantly higher than the values in normal saline group and 15 mg/mL ADM extract group (with t values of 8.14 and 7.96, respectively, P<0.01). After 3 days of culture, the cells of the fourth passage showed pebble-like morphology, with low expression of CD71 and high expression of CD49f, which were identified as ESCs. There was ESC attachment and growth on porcine ADM particles. On PID 1, the wound sizes of nude mice were almost the same in PBS alone group, ADM alone group, ESC alone group, and ESC/ADM group. On PID 7, 11, and 15, the wound contraction of nude mice in each group was observed, especially in ADM alone group, ESC alone group, and ESC/ADM group. On PID 7, the wound healing rates of nude mice in ESC alone group and ESC/ADM group were significantly higher than the rate in PBS alone group (with t values of 2.83 and 4.72 respectively, P<0.05 or P<0.01). On PID 11, the wound healing rate of nude mice in ESC/ADM group was significantly higher than that in PBS alone group (t=4.86, P<0.01). On PID 15, the wound healing rates of nude mice in ADM alone group, ESC alone group, and ESC/ADM group were significantly higher than the rate in PBS alone group (with t values of 2.71, 2.90, and 3.23 respectively, P<0.05). On PID 7, the length of un-epithelialized wound of nude mice in ADM alone group, ESC alone group, and ESC/ADM group was (816±85), (635±66), and (163±32) μm, respectively, which were significantly shorter than (1 199±43) μm in PBS alone group (with t values of 5.69, 10.19, and 27.54 respectively, P<0.01). On PID 11, the dermal areas of wound section of nude mice in ADM alone group, ESC alone group, and ESC/ADM group were significantly larger than the area in PBS alone group (with t values of 27.14, 5.29, and 15.90 respectively, P<0.01); the collagen production of nude mice in ADM alone group and ESC/ADM group was more obvious than that in PBS alone group, and the collagen production of nude mice in ESC alone group and PBS alone group was similar. On PID 11, in the wounds of nude mice in ESC alone group and ESC/ADM group, the cells with positive expression of CD49f were respectively 135±7 and 185±15, and the mRNA expressions of GAPDH were positive; while there were no expressions of CD49f nor mRNA of GAPDH in the wounds of nude mice in PBS alone group and ADM alone group. Conclusions: ESC/ADM particles can promote the wound healing of full-thickness skin defects in nude mice, which may be related to the improved survival rate of ESCs after transplantation and the promotion of dermal structure rearrangement and angiogenesis by ADM.
Acellular Dermis ; Animals ; Fibroblasts ; Humans ; Male ; Mice ; Mice, Nude ; Rats ; Rats, Sprague-Dawley ; Stem Cells ; Swine ; Wound Healing