Objective:To study the application of 3D printing technology in multi-center fenestrated/branched endovascular repair (F/B-EVAR) for endovascular repair of abdominal aortic diseases.Methods:From Feb 2018 to Mar 2023, The clinical and followup data of 316 cases of abdominal aortic lesions undergoing repair with F/B-EVAR at 69 medical centers nationwide using 3D printing technology to guide physician-modified stent graft were retrospectively analyzed.Results:The mean follow-up time of the patients was 23 months (2-60 months), and 24 cases were lost to follow up, the follow-up rate was 92.4% (292/316), the mean postoperative hospitalization time was (8.2±4.9) days. A total of 944 main abdominal branch arteries were reconstructed. Intraoperative reconstruction of 11 branches failed, with a success rate of 98.8% (933/944). Within 30 days after surgery, 8 patients died (2.5%), and 6 patients died during follow-up, a total of 14 patients died (4.4%). There were 11 cases (3.5%) of spinal cord ischemia and no patient suffered from permanent paraplegia. There were 19 patients (6.0%) with postoperative renal function injury. Internal leakage was found in 26 patients, and the rate of internal leakage was 8.2%.Conclusion:3D printing technology can accurately locate the location of branch arteries, simplifing the surgical process, shortening the learning curve , and improving clinical efficacy.

Objective:To investigate the genetic distribution of pathogenic genes of Charcot-Marie-Tooth diseases (CMT) in Chinese Han population, and compare the similarity and difference with the data in Peking University Third Hospital in 2013.Methods:Five hundred and twenty families with CMT and related diseases in Peking University Third Hospital and China-Japan Friendship Hospital from January 2007 to March 2021 were collected. After peripheral myelin protein 22 (PMP22) gene duplication and deletion mutations were initially detected by multiple ligation probe amplification, the probands of these families were sequenced by next-generation sequencing (NGS) gene panel or whole exome sequencing, and validated by Sanger sequencing.Results:Among the 520 families, 336 CMT families were genetically confirmed, and the mutation detection rate increased from 48.6% (51/105) in 2013 to 64.6% (336/520) in 2021 (χ 2=9.54, P=0.003). Among them, 139 families had PMP22 gene duplication mutation (139/520, 26.7%), 46 families had gap junction beta-1 (GJB1) gene mutation (46/520, 8.8%), 26 families had mitofusin-2 (MFN2) gene mutation (26/520, 5.0%), 12 families had myelin protein zero (MPZ) gene mutation (12/520, 2.3%), 11 families had PMP22 gene point mutation (11/520, 2.1%), and 10 families had heat shock protein B1 gene mutation (10/520, 1.9%). There were 10 families with ganglioside induced differentiation associated protein 1 (GDAP1) gene mutation (10/520, 1.9%), 8 families with SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene mutation (8/520, 1.5%), 7 families with immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene mutation (7/520, 1.3%), 6 families with MORC family CW-type zinc finger 2 (MORC2) gene mutation (6/520, 1.2%), 5 families with sorbitol dehydrogenase (SORD) gene mutation (5/520, 1.0%), 16 families with very rare gene mutation (16/520, 3.1%) and 184 families without genetic diagnosis (184/520, 35.4%). Conclusions:Compared with the results in 2013, the 3 most common genes affecting CMT were still PMP22, GJB1 and MFN2 genes, but the proportion difference of patients with MPZ gene mutation gradually decreased with other genes such as SH3TC2 and GDAP1 genes. The proportion of newly discovered CMT genes, such as MORC2 and SORD genes, was similar with IGHMBP2 gene, which should be paid more attention. NGS greatly improved the detection rate of CMT, especially for patients with autosomal recessive-CMT.

The gas chromatography method was developed for the determination of ethylene glycol, diethylene glycol and triethylene glycol in poloxamer 188 to provide scientific basis for the quality control. The samples was separated on column VF-17ms(30 m×0. 53 mm, 1. 0 μm)with temperature programming, inlet temperature was 270 °C, detector temperature was 290 °C and the split ratio was 10 ∶1. The method showed great linearity over the range of 6-15 μg/mL(r≥0. 999). The injection precision(n=8)of the three residual impurities were 3. 3%, 3. 0%, 2. 3% and the average recoveries were 99. 05%(RSD=2. 9%, n=9), 102. 20%(RSD=4. 0%, n=9), 101. 91%(RSD=3. 1%, n=9), respectively. The analytical method is specific, accurate and sensitive, which is suitable for the determination of ethylene glycol, diethylene glycol and triethylene glycol in poloxamer 188, providing reference and guidance for the production and quality control of poloxamer 188.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

Objective To investigate the relationship between lymph nodes count after selective neck lymph node dissection and the prognosis of patients with pathologically lymph node-negative (pN0) hypopharyngeal squamous cell carcinoma (HPSCC). Methods The clinical data of 96 patients with pN0 HPSCC undergoing selective neck dissection (bilateralⅡ-Ⅳregion) from October 1995 to October 2012 in Shanxi Provincial Cancer Hospital were analyzed retrospectively. The optimal lymph nodes count cutoff values were determined by using the X-tile program in different prognostic groups, and the univariate and multivariate survival analysis in different groups were analyzed by using SPSS 19.0 software. Results A total of 2116 lymph nodes were detected in this cohort, with a median number of 22 (3-52). Except for the tumor site (P= 0.011), there were no statistical differences in lymph nodes count of patients with different age, gender, history of smoking or drinking, T stage, and differentiation degree (all P> 0.05). Applying 9 and 23 nodes as the cutoff values determined by using X-tile program, all patients could be divided into the high-risk (13 cases, lymph nodes count 3-9), the middle-risk (37 cases, lymph nodes count 10-22) and the low-risk (46 cases, lymph nodes count 23-52) groups. And the 5-year overall survival (OS) rate was 23.1 ％, 55.9％and 86.0％in the high, middle, low risk groups respectively (χ2= 21.73, P< 0.001). Multiple-factor analysis showed that lymph nodes count, T stage and degree of tumor differentiation were independent prognostic factors in patients with pN0 HPSCC (all P< 0.05). Further analysis showed that when the cutoff value of lymph nodes count was 9, the patients could be divided into two groups with significantly differentprognosis. The 5-year OS rate was 23.1％ in the high-risk group and 73.2 ％ in the low-risk group, and the difference was statistically significant (χ2 = 17.87, P< 0.001). Conclusions Lymph nodes count after selective neck lymph node dissection can be used to predict the prognosis of patients with pN 0 HPSCC. It is likely that 9 is the minimum number of lymph nodes in pN0 HPSCC patients.

Objective To study the effect of target rehabilitation diary in elderly patients with total knee arthroplasty (TKA). Methods One hundred patients who received unilateral first TKA (no patella) were numbered according to the order of admission time, according to random digit table, 50 cases in the control group and the intervention group. Conventional treatment methods were given to both two groups, the control group received routine care measures and health education, the intervention group was given target rehabilitation diary for self- management based on the conventional health education. The differences in American Knee Society Knee Score (KSS), self- management and self- efficacy were compared between the two groups. Results The KSS was (75.50 ± 6.90) points in the intervention group and (71.90 ± 7.20) points in the control group on the first week after operation, the difference was statistically significant (t=2.553, P<0.05). On the twelfth week of intervention, KSS was (85.86 ± 2.80) points in the intervention group and (80.88 ± 2.20) points in the control group, the difference was statistically significant (t=9.880, P<0.01). Self-efficacy and self-management on the twelfth week were (47.22 ± 3.34) and (54.55 ± 2.66) points in the intervention group, which were significantly higher than those in the control group (34.24 ± 4.11) and (42.54 ± 3.76) points, the difference was statistically significant (t=17.33, 18.43, P<0.01). Conclusions The target rehabilitation diary plays a good role in the self-management of elderly patients with TKA.

Aim To investigate the effect of indirubin derivative PHⅡ-7 and TRAIL on proliferation in breast cancer cell MCF-7 and its MDR counterpart MCF-7/ADR and the mechanism.Methods Growth inhibition rate was examined respectively by MTT assay under treatment with TRAIL or PHⅡ-7 or in combination. Cell apoptosis and ROS production were examined by flow cytometry.The change of TRAIL receptors(DR4/DR5 )in mRNA was analysed by realtime PCR.Re-sults IC50 of PHⅡ-7 on MCF-7 and MCF-7/ADR was (4.49 ±1.55 ),(3.44 ±0.90 )μmol · L-1 respec-tively;MDA-MB-231 was TRAIL sensitive cell line, and apparently TRAIL induced apoptosis in MDA-MB-23 1 .Low concentration of PHⅡ-7 in combination with TRAIL could augment TRAIL-induced cytotoxic effect including apoptosis while TRAIL or PHⅡ-7 treatment alone had limited cytotoxity to those cells.Besides, PHⅡ-7 at this concentration had little toxicity to hu-man peripheral blood mononuclear cells even if in com-bination with TRAIL.PHⅡ-7 generated ROS produc-tion inside MCF-7 and MCF-7/ADR cells and up-regu-lated DR4/DR5 expression concentration dependently. Once upon ROS scavenger NAC involved,the effect of TRAIL receptors up-regualtion by expression was abro-gated.Conclusions PHⅡ-7 at low concentration could improve the sensitivities of breast cancer cell MCF-7 and MCF-7/ADR to TRAIL,the mechanism of which may be the ability of ROS production by PHⅡ-7 help up-regulated TRAIL receptor DR4,DR5 .Our re-search set a solid foundation for PHⅡ-7 in combination with TRAIL in future clinical application.

BACKGROUNDHigh-voltage analog X-ray examination is a main tool for pneumoconiosis, which is challenged by digital radiography (DR). The tube voltage of DR chest films required for diagnosis and staging of pneumoconiosis is concerned technically. We investigated the influence of the tube voltage on chest X-ray DR image quality of patients exposed to occupational dust.

METHODSDR images of the CDRAD2.0model, an anatomical chest phantom, and 136 exposed workers were analyzed at different tube voltages by threereaders. Image quality factors (IQF) were calculated and compared using the CDRAD2.0 model. DR images of ten anatomic positions were scored against those of the high-kilovolt chest films in anatomical phantom and clinical cases, and differences in scores were analyzed.

RESULTSIn the CDRAD2.0 model, all three readers had a minimal IQF at 120 kV (mean: 22.25 kV). The differences in the mean IQF of DR images at different tube voltages was significant (F = 13.78, P < 0.001). The IQF of DR imaging at 120 kV was similar to high kilovolt analog imaging (t = -0.58, P > 0.05). In the anatomic phantom and clinical cases, the DR images at 120 kV were closest in anatomical detail to the high kV analog images, and the means were similar (P > 0.05).

CONCLUSIONSAmong different tube voltages, DR image quality is closest to the high kilovolt analog images at 120 kV in patients exposed to occupational dust.

Adult ; Aged ; Environmental Pollution ; Female ; Humans ; Male ; Middle Aged ; Phantoms, Imaging ; Pneumoconiosis ; diagnosis ; Radiographic Image Enhancement ; methods ; Radiography, Thoracic

Objective To investigate the discrepancy of anorectal function in patients of Parkinson's disease (PD) with constipation and functional constipation (FC).Methods Fifteen consecutive male PD patients with constipation and 45 male FC patients were recruited for the study.All subjects underwent colonoscopy or barium enema in order to exclude organic colon diseases.Every patient underwent anorectal manometry and was categorized into subgroups of either dyssynergic defecation (F3a) or inadequate defecatory propulsion (F3b).Results The ages of PD with constipation and FC patients were (70 ± 11) and (68 ± 11) years old respectively.The rectal resting pressure in PD with constipation was higher than that in FC group without statistical significance [9.0 (4.0,15.0) mm Hg vs 6.0 (3.0,9.5) mm Hg,P=0.082,1 mm Hg =0.133 kPa].The anal resting pressure in PD group was not different from FC group [(51.2±17.2) mm Hg vs (59.7 ± 20.4) mm Hg,P =0.152].During anal squeezing,the maximal contraction pressure and area under the squeeze curve in PD with constipation group were both significantly lower than FC patients [maximal contraction pressure:(136.9 ± 43.8) mm Hg vs (183.0 ± 62.1) mm Hg,P=0.010; area under the squeeze curve:(823.5 ±635.7) mm Hg · s vs (1392.4± 939.9) mm Hg · s,P =0.033].During forced defecation,both of the defecation rectal pressure and defecation anal pressure in PD with constipation group were significantly lower than that of FC patients [22.0(15.0,30.0) vs42.0(31.0,55.0)mm Hg,P=0.000; and (46.3 ±23.3) vs (77.9 ±35.1) mm Hg,P =0.002].The proportions of F3a subtype were 10/15 and 46.7％ (21/45) in PD with constipation and FC patients respectively.There was no significant difference in the constituent ratio (P =0.120).Initial rectal sensory volumes were (91.3 ± 56.9) ml and (67.2 ± 38.9) ml in PD with constipation and FC patients respectively.Even both volumes were higher than the normal controls,there was no significant difference between the two groups (P =0.074).Conclusions Both PD with constipation and FC patients have abnormal anorectal motility and sensation comparing to the FC group,the parameters of anal contraction and defecation are significantly lower,F3b is dominant,and rectal sensory threshold is higher in PD with constipation patients.These parameters could possibly characterize the anorectal manometry for PD with constipation patients,which is helpful to understand the pathogenesis of PD and differentiate from other diseases.

Objective To compare the reactive oxygen species (ROS) expression in human neutrophils phagocytizing Sporothrix Schenckii and Candida albicans yeast cells,and to compare the fungicidal activity of human neutrophils against Sporothrix Schenckii and Candida albicans.Methods Human neutrophils were isolated from peripheral blood by using density gradient centrifugation method,and cultured with the presence of the yeast phase of a Sporothrix Schenckii clinical isolate and a standard strain of Candida albicans (ATCC 90028)at a multiplicity of infection of 10 or 1 for 60-210 minutes.Subsequently,flow cytometry with ROS probe (2',7'-dichlorofluorescein diacetate,DCFH-DA) was carried out to for the real time detection of intracellular ROS level,confocal laser scanning microscopy (CLSM) for the observation of ROS distribution.In addition,the fungicidal efficiency of neutrophils against Sporothrix Schenckii and Candida albicans was estimated by the number of colonies after additional culture of neutrophil lysates on brain-heart infusion agar (BHIA) medium.Statistical analysis was done by using univariate analysis of variance and LSD-t test.Results The intracellular ROS level peaked at 60 minutes in neutrophils incubated with Sporothrix Schenckii yeast cells,then decreased rapidly from 60 minutes to 210 minutes.Compared with the neutrophils incubated with Candida albicans yeast cells,those with Sporothrix Schenckii yeast cells showed a higher ROS level (expressed as mean fluorescence intensity) at 60minutes (159.67 ± 11.34 vs.112.22 ± 9.66,P＜ 0.01),but a lower ROS level at 120 minutes (89.01 ± 9.81 vs.110.25 ± 7.28,P＜ 0.05) and 180 minutes (57.63 ± 8.46 vs.109.98 ± 9.00,P＜ 0.01).CLSM revealed that ROS was mainly distributed in neutrophils with phagocytized fungal spores,and especially on the surface of phagocytized spores.Furthermore,the percentage of yeast cells killed by neutrophils was significantly lower for Sporothrix Schenckii than for Candida albicans at 180 minutes (19.21％ ± 3.68％ vs.26.63％ ± 4.97％,P ＜ 0.01).Conclusions Differential expression of intracellular ROS was observed in neutrophils after phagocytosis of Candida albicans and Sporothrix schenckii.Neutrophils exert a stronger fungicidal activity against Sporothrix Schenckii in comparison with Candida albicans,which may be associated with the rapid decrease of ROS level in neutrophils after phagocytosis.