The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.

Objective:To summarize the best evidence for the prevention and nursing of peri-implant diseases in patients with dental implants.Methods:Guidelines, systematic reviews, evidence summaries, and expert consensus on prevention and nursing of peri-implant diseases in patients with dental implants were electronically retrieved on Guidelines International Network, Agency for Healthcare Research and Quality, Medlive, UpToDate, BMJ Best Practice, Cochrane Library, Web of Science, PubMed, China Biology Medicine disc, China National Knowledge Infrastructure and so on. The search period was from database establishment to June 1, 2023. Two researchers conducted a quality evaluation and extracted evidence from the included literature.Results:A total of 15 articles were included, including two guidelines, six expert consensus, and seven systematic reviews. Twenty pieces of evidence on the prevention and nursing of peri-implant diseases in patients with dental implants were summarized from five aspects: risk factor assessment, nursing measures, oral hygiene guidance, monitoring and follow-up, and health education.Conclusions:The best evidence for the prevention and nursing of peri-implant diseases in dental implant patients summarized is scientifically sound. Medical and nursing staff can apply evidence based on clinical context and patient wishes.

ObjectiveTo investigate the effect of Ziziphi Spinosae Semen-Albiziae Flos on the nucleotide-binding oligomerization domain，NOD-like receptor thermal protein domain associated protein 1 （NLRP1）/chemokine ligand 1 （CXCL1）/chemokine receptor 2 （CXCR2） pathway in the hippocampus of the rat model of chronic unpredictable mild stress （CUMS）-induced depression. MethodA total of 120 male SD rats were randomized into blank，CUMS，CUMS + low-，medium-，and high-dose （4，8，16 g·kg^-1） Ziziphi Spinosae Semen-Albiziae Flos，and CUMS + venlafaxine hydrochloride （0.008 g·kg^-1） groups，with 20 rats in each group.The rat model of depression was established by solitary feeding combined with CUMS.The behaviors and spatial learning and memory abilities of rats were examined by sugar water consumption test，tail suspension test，forced swimming test，and Morris water maze test.Quantitative real-time PCR （Real-time PCR） and Western blot were employed to determine the expression of factors associated with the NLRP1/CXCL1/CXCR2 pathway in the hippocampus.Enzyme-linked immunosorbent assay was employed to determine the levels of tumor necrosis factor-α （TNF-α），interleukin （IL）-18，IL-1β，and IL-6 in the hippocampus.The immunofluorescence assay was used to measure the levels of reactive oxygen species （ROS） in the hippocampus. ResultCompared with the blank group，the CUMS group showed decreased preference to sugar water and times of crossing the platform （P<0.01），and increased immobility time of tail suspension，forced swimming floating time，and escape latency （P<0.01）.Compared with the CUMS group，the administration of Ziziphi Spinosae Semen-Albiziae Flos and venlafaxine hydrochloride alleviated the effects of CUMS on the above-mentioned behaviors and spatial learning and memory abilities of the rats （P<0.05，P<0.01）.Compared with the blank group，the CUMS group showed up-regulated protein levels of NLRP1，CXCL1，and CXCR2 （P<0.01） and elevated levels of IL-18，IL-1β，TNF-α，and IL-6 （P<0.01） in the hippocampus.The treatment with Ziziphi Spinosae Semen-Albiziae Flos and venlafaxine hydrochloride attenuated the activation of NLRP1/CXCL1/CXCR2 signaling pathway and lowered the levels of inflammatory cytokines in the hippocampus of CUMS rats （P<0.05，P<0.01）.In addition，Ziziphi Spinosae Semen-Albiziae Flos lowered the level of ROS in the hippocampus （P<0.05，P<0.01）. ConclusionZiziphi Spinosae Semen-Albiziae Flos can mitigate the depressive behaviors of the rat model of CUMS-induced depression by inhibiting the activation of NLRP1/CXCL1/CXCR2 signaling pathway.

Objective:To investigate the therapeutic effect of bidirectional-traction, Steinmann pin poking reduction,anatomic plate and raft technique in the treatment of hyperextension tibial plateau fractures.Methods:The data of 25 patients with hyperextension tibial plateau fractures admitted to Qilu Hospital of Shandong University (Qingdao) from July 2017 to June 2022 were retrospectively analyzed. According to the treatment methods, they were divided into bidirectional-traction group (treated with bidirectional-traction, Steinmann pin poking reduction, anatomic plate and raft technique) and open reduction group (treated with open reduction, bone grafting and two plates fixation). The bidirectional-traction group included 14 patients, with 8 males and 6 females; the age was 50.29±9.23 years (range, 38-61 years). The cause of the injury was a traffic accident in 4 patients, a fall from height in 7 patients and a fall from standing height in 3 patients. According to Schatzker classification, there were 5 Schatzker type V and 9 type VI fractures. The open reduction group included 11 patients (7 males and 4 females); with a mean age of 58.00±10.58 years (range, 48-69 years). 3 cases were injured by traffic accident, 6 cases by falling from height, and 2 cases by falling from standing height. According to Schatzker classification, there were 4 type V and 7 type VI. Preoperative waiting time, operative time, blood loss and percentage of blood loss, incision length, fracture healing time, tibial posterior inclination, medial proximal tibial angle, visual analogue scale (VAS) on the first day after surgery, Hospital for Special Surgery (HSS) score 6 months after surgery were compared between the two groups.Results:Patients in both groups were followed up for more than 6 months. The follow-up time was 7 to 48 months with an average of 22.76 months. There were significant differences in the preoperative waiting time [6 (4, 8) d vs. 8 (7, 11) d, W=114.00, P=0.043], the incision length [15.0 (12.5, 16.0) cm vs. 30.0 (28.0, 31.0) cm, W=154.00, P<0.001], postoperative VAS [4 (3, 4) points vs. 5 (5, 6) points, W=143.00, P<0.001], blood loss [147 (107, 206) ml vs. 267 (191, 362) ml, W=116.00, P=0.033], blood loss percentage [2.95% (2.58%, 5.20%) vs. 6.40% (4.05%, 7.00%), W=118.00, P=0.027] between the bidirectional-traction group and open reduction group. There were not significant differences in the operation time [120 (118, 120) min vs. 119 (101, 154) min, W=68.50, P=0.656], fracture healing time (8.18±1.03 weeks vs. 8.86±1.27 weeks, t=1.49, P=0.149), HSS score (8.43±3.72 vs. 85.18±7.73, t=1.28, P=0.221) and medial proximal tibial angle 6 months after surgery (87.66°±1.53° vs. 86.47°±2.24°, t=1.57, P=0.130) between the two groups. Postoperative tibial posterior inclination was improved in both groups. There was no significant difference in the tibial posterior inclination before surgery, immediately after surgery and 6 months after surgery (-14.96°±6.44°, 5.55°±1.02°, 5.61°±0.82°) in the bidirectional-traction group and -12.26°±2.93°, 7.07°±3.21° and 7.14°±3.17° in the open reduction group, P>0.05). There were no postoperative complications such as acute compartment syndrome or knee stiffness in both groups. Conclusion:The treatment of hyperextension tibial plateau fracture with bidirectional-traction, Steinmann pin poking reduction, anatomic plate and raft technique can shorten preoperative waiting time, reduce incision length, decrease blood loss and lower VAS. It is a minimally invasive, rapid and effective method, which has achieved good clinical results and is worth promoting.

Objective:To compare the clinical effects of percutaneous curved vertebroplasty (PCVP) and unilateral percutaneous kyphoplasty (PKP) in the treatment of osteoporotic vertebral compression fracture (OVCF).Methods:A retrospective cohort study was used to analyze the clinical data of 104 patients with single vertebral OVCF treated in Tianjin Hospital from September 2019 to September 2020, including 21 males and 83 females; aged 50-91 years [(70.3±7.7)years]. AO classification of the fracture was type A1 in 65 patients and type A2 in 39. The patients received PCVP (PCVP group, n=51) or unilateral PKP surgery (unilateral PKP group, n=53). The operation time, bone cement injection volume, intraoperative fluoroscopy frequency, effective dispersion times of bone cement and excellent rate of bone cement distribution were compared between the two groups. In evaluation of the therapeutic effects of the two groups, visual analogue scale (VAS) and Oswestry dysfunction index (ODI) were measured preoperatively and at postoperative 24 hours, 3 months and 6 months; Beck index was measured preoperatively and at postoperative 24 hours and 3 months. The rate of bone cement leakage and rate of refracture of adjacent vertebral bodies were compared between the two groups. Results:All patients were followed up for 6-8 months [(6.4±0.7)months]. The operation time, bone cement injection volume and intraoperative fluoroscopy frequency in PCVP group was (12.15±1.63)minutes, (2.13±0.28)ml and (24.74±1.71)times, shorter or less than (22.09±1.62)minutes, (5.30±0.52)ml and (30.09±1.86)times in unilateral PKP group (all P<0.01). The effective dispersion times of bone cement in PCVP group was (1.42±0.04)times, higher than (1.18±0.02)times in unilateral PKP group ( P<0.01). The excellent rate of bone cement distribution in PCVP group was 94%, higher than 70% in unilateral PKP group ( P<0.01). There were no significant differences in VAS, ODI and Beck index between the two groups before operation and at 24 hours and 3 months after operation (all P>0.05). VAS and ODI in PCVP group were (1.20±0.49)points and 16.52±5.22 at 6 months after operation, lower than (1.49±0.58)points and 20.16±5.16 in unilateral PKP group (all P<0.01). VAS and ODI in the two groups were significantly improved at 24 hours, 3 months and 6 months after operation when compared with those before operation (all P<0.05). Beck index in the two groups detected at 24 hours and 3 months after operation was improved from that before operation (all P<0.05). Unilateral PKP group showed Beck index was 0.75±0.07 at 3 months after operation, significantly lower than 0.79±0.07 at 24 hours after operation ( P<0.05), but there was no significant change in PCVP group ( P>0.05). The leakage rate of bone cement in PCVP group was 16% (8/51), lower than 47% (25/53) in unilateral PKP group ( P<0.01). There was no significant difference in the incidence of refracture of adjacent vertebral bodies between the two groups during follow-up ( P>0.05). Conclusion:For OVCF, PCVP is superior to unilateral PKP in terms of operation time, amount of bone cement injection, intraoperative fluoroscopy frequency, dispersion effect of bone cement in vertebral body, pain, function improvement, maintenance of injured vertebral height and incidence of bone cement leakage.

Bioinformatic analysis and variant classification are the key components of high-throughput sequencing-based genetic diagnostic approach.This consensus is part of the effort to develop a standardized process for next generation sequencing (NGS)-based test for germline mutations underlying Mendelian disorders in China.The flow-chart,common software,key parameters of bioinformatics pipeline for data processing,annotation,storage and variant classification are reviewed,which is aimed to help improving and maintaining a high-quality process and obtaining consistent outcomes for NGS-based molecular diagnosis.

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 explore the risk factors for perioperative myocardial infarction(PMI) in aged patients undergoing nonneurologic and noncardiac surgery.Methods A total of 9285 inpatients aged 65 or above receiving nonneurologic and noncardiac surgery at Peking University People's Hospital from November 2012 to May 2016 were retrospectively recruited to our study.Patients who had suffered PMI were assigned to a myocardial infarction group(MI group)and others were allocated to a nonmyocardial infarction group(non-MI group).Clinical manifestations,comorbidities,preoperative laboratory test results,polypharmacy,characteristics of operation and anesthesia,and prognosis were analyzed and compared between the two groups.A multivariate logistic regression model was built to evaluate risk factors for PMI in aged patients undergoing nonneurologic and noncardiac surgery.Results PMI occurred in 12 patients(0.13％).Previous stroke or transient ischemic attack(TIA) history (OR =159.254,P ＜ 0.001),cardiovascular heart disease (CHD) history (OR=33.645,P ＜0.001),and chronic kidney disease(CKD) (OR =19.393,P =0.003) were independent risk factors for PMI in aged patients undergoing nonneurologic and noncardiac surgery.PMI was associated with longer hospitalization[29 (15 59) days vs.9 (6-15) days,P ＜ 0.001] and higher mortality(58.3 ％).Conclusions Previous stroke or TIA history,CHD history,and CKD are independent risk factors for PMI in aged patients undergoing nonneurologic and noncardiac surgery.The incidence of PMI in patients with these risk factors is not high,but the mortality will be high and hospitalization will be prolonged once PMI occurs.Patients with these characteristics need more careful perioperative care.

Objective To explore the regulation and effect factors of arsenic expose and arsenic methylation level, then to provide a reference for study the function of arsenic metabolism in a arsenic poisoning process. Methods A meta-analysis was performed by two researchers. Twenty-five papers satisfying our priori eligibility criteria were included by searching Cochrane library, Pubmed, Springer, Embase and China National Knowledge Infrastructure. Based on the results of heterogeneity, a random or fixed effects model was chosen for the meta-analysis. Results The results showed that the following arsenic metabolites increased (all P<0.01) following arsenic exposure: inorganic arsenic [iAs; standardized mean difference (SMD): 1.07; 95% confidence interval (CI):0.61 - 1.53)], monomethyl arsenic (MMA; SMD: 1.10; 95% CI: 0.81 - 1.40), dimethyl arsenic (DMA; SMD: 2.50;95%CI:1.50-3.69), and total arsenic (TAs, SMD:3.10;95%CI:2.13-4.07). Additionally, the percentages of iAs (iAs%; SMD: 1.00; 95% CI: 0.60 - 1.40) and MMA (MMA%; SMD: 0.49; 95% CI: 0.21 - 0.77) also increased, while the percentage of DMA (DMA%; SMD: - 0.55; 95% CI: - 0.80 - - 0.31) decreased (P<0.01). The primary methylation index (PMI; SMD: - 0.57; 95% CI: - 0.94 - - 0.20), and secondary methylation index (SMI;SMD: - 0.27; 95% CI: - 0.46 - - 0.09) decreased (all P< 0.01). Compared to female, male had higher MMA%(SMD:0.44;95%CI:0.35-0.52), lower DMA%(SMD:-0.33;95%CI:-0.38--0.28) and SMI (SMD:-0.36;95%CI:-0.53--0.19). The smoker had higher MMA%(SMD: 0.22; 95%CI: 0.07 - 0.37) and lower DMA%(SMD:-0.16;95%CI: - 0.26 - - 0.05). The drinker had higher MMA% (SMD: 0.17; 95% CI: 0.07 - 0.27) and lower DMA%(SMD:-0.24;95%CI:-0.39--0.10). The older people had higher MMA%(SMD:-0.23;95%CI:-0.40--0.06). In addition, the body mass index may influence the percentages of MMA (SMD: - 0.18; 95% CI: - 0.31 - - 0.04, P < 0.01). Conclusion Arsenic exposure, smoking, drinking, and older age can reduce the capacity of arsenic methylation. Arsenic methylation is more efficient in women than in men.

Objective: To observe the characteristics of serum homocysteine (Hcy) distribution and the epidemiological characteristics of high serum level of Hcy (HHcy) in Kazakh population.
Methods: The stratiifed cluster random sampling method was used to investigate 1003 kazakh individuals in Xinyuan county of Xinjiang including 433 male and 570 female, and they were individuals into 5 age groups:①(25-34) years, n=333,②(35-44) years, n=306, ③(45-54) years, n=230, ④(55-65) years, n=90, ⑤>65 years, n=44. The questionnaire survey, physical check-up and blood biochemical examination were performed and compared among different groups.
Results: ① The geometrical mean of Hcy was 13.3μmol/L, and the male was higher than female as 16.0μmol/L vs 11.6μmol/L. ②By age stratiifcation, the serum levels of Hcy elevated with the increased age accordingly. Except for those with the age>65 years, the serum levels of Hcy were all higher in male than female in other 4 age groups. ③The average rate of HHcy prevalence was 31.5%, and the male was higher than female as 49.9%vs 17.5%.④The average rate of H type hypertension prevalence was 35.1%, and the male was higher than female as 44.3%vs 28.1%. There were 87.6%of H type hypertensive patients with H type hypertension, and the male was higher than female as 95.0%vs 80.0%, all P<0.001.
Conclusion: The serum levels of Hcy were different from gender and age; the prevalences of HHcy and H type hypertension were higher in Kazakh population at Xinyuan county of Xinjiang. Community intervention should be conducted to improve the public health condition in Kazakh population.