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.

As an adjuvant alternative therapy， phototherapy is widely used for early diagnosis and late treatment of breast cancer due to its non-invasive treatment characteristics. But the application of phototherapeutic agents has been limited in the clinic due to poor hydrophobicity and tissue targeting， low photostability， and obvious toxic side effects in vivo. With the development of nanotechnology， new composite nano-phototherapy agents have emerged. This paper summarizes the latest developments and findings of new composite nano-phototherapy agents for phototherapy in the field of breast cancer treatment in the past 5 years. With the development of multifunctional nanomaterials in the field of breast cancer imaging diagnosis and treatment， the modified phototherapy agent achieved further development respectively from improving light response to improve the light thermal conversion or increasing the generation of reactive oxygen species， targeting tumor microenvironment， immune cells and cancer cell surface receptors to achieve drug controllable response release， using biomimetic materials and endogenous substances to improve biocompatibility. Although phototherapeutic agents exhibit high cell-killing rates in the treatment of metastatic breast cancer models and effectively inhibit their recurrence and metastasis， problems remain regarding the safety and compatibility of synergistic therapy. Future studies can not only improve the existing effects of phototherapeutic agents， but also develop oral drugs with more convenient routes based on immunotherapy to amplify the immune response and resist breast cancer through multiple routes.

OBJECTIVE To analyze the current status and research hot spots of traditional Chinese medicine （TCM）in the prevention and treatment of myocardial ischemia -reperfusion injury （MIRI），and to provide reference for developing relevant studies. METHODS A bibliometric analysis was performed with the literature on TCM treatments for MIRI included in the Web of Science as the data source . RESULTS A total of 972 literatures were included in this study . The research on TCM for prevention and treatment of MIRI in recent 10 years showed an increasing trend year by year ，and the literature published in 2021 were cited most frequently ；most research scholars focused in China ；Peking Union Medical College ，Chinese Academy of Medical Sciences had the most papers in this field ，and a lot of collaboration with other institutions ，which had a large influence in the field ；Sun Guibo and Sun Xiaobo were high -yielding authors in the field ，but the global authorship was not very close and had not formed cooperative teams of some scale ；Molecular Medicine Reports was perhaps the most popular journal in the field . Co-citation analysis found that the research direction in this field was mostly focused on exploring the pathogenesis of MIRI and finding intervention targets . Key words analysis revealed that TCM regulated apoptosis ， pyroptosis， mitochondrial dysfunction ， miRNA and other pathways to improve MIRI research was a hot spot in the field ，and more studies had focused on the Nrf 2 pathway，NF-κB pathway ，NLRP3 inflammasomepathway， TNF pathway ， SIRT3 pathway， JNK pathway ，PI3K/Akt pathway and AMPK pathway . CONCLUSIONS Much attention has been paid to the prevention and treatment of MIRI by TCM in the past 10 years，and the current hot spots in this field are mostly focused on the studies about the intervention mechanism of TCM ’s active ingredients and Chinese patent medicines on MIRI . Moreover，the research about TCM in the treatment of MIRI is mostly focused on the field of basic experiments at present ，and it is recommended that many large -scale，high-quality， multicenter，randomized controlled clinical studies should be carried out in the future ，to provide high -grade evidence -based evidence for the application of TCM in clinic .

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.

Objective:To provide a reference for extracorporeal membrane oxygenation (ECMO) inter-hospital transport during coronavirus disease 2019 (COVID-19), based on the transport experience of 6 patients with severe H1N1 influenza virus pneumonia using ECMO.Methods:Clinical data of patients with severe H1N1 influenza virus pneumonia implemented by ECMO in the First Affiliated Hospital of Wannan Medical College from October 2018 to December 2019 were retrospective analyzed, including general information, ECMO transport distance, time, clinical parameters before and after ECMO, including the patients' oxygenation index (PaO 2/FiO 2), respiratory rate (RR), pulse blood oxygen saturation (SpO 2), arterial blood carbon dioxide partial pressure (PaCO 2), and pH value, various complications during transport, mechanical ventilation time, patients' prognosis and other indicators. Experience from the aspects of personal protection, transport process and equipment, team cooperation, mid-transit monitoring, quality control, etc., was summarized to provide suggestions for patients with severe COVID-19 using ECMO during inter-hospital transport and protection. Results:A total of 6 patients with severe H1N1 influenza virus pneumonia were transported on ECMO. All patients were transported to the intensive care unit (ICU) of the First Affiliated Hospital of Wannan Medical College by the ECMO transport team after the establishment of ECMO in the local hospital. The transfer distance was 11 to 197 km, with an average of (93.8±58.6) km; the transfer time was 30 to 150 minutes, with an average of (79.2±40.6) minutes. Two patients experienced a drop in ECMO flow and SpO 2 during the process, and the main reason was insufficient volume, which was improved after fluid resuscitation and posture adjustment. All patients maintained SpO 2 above 0.93. Six patients survived and were discharged. ECMO assisted time was 4-9 days, with an average of (6.5±1.5) days; mechanical ventilation time was 7-24 days, and median time was 10.0 (8.0, 14.5) days. No H1N1 transmission occurred in medical personnel. To achieve good therapeutic effect, the main experience was to choose the proper timing and mode of ECMO; intact transportation vehicles and equipment to reduce or avoid mechanical complications; the effective management of respiration and circulation during the transportation to avoid ventilation-associated lung injury (VALI) and serious hypoxemia; the appropriate space for the transfer team to quickly handle various critical situations; and personal protection to avoid infection. Conclusion:With an experienced ECMO transport team, good transport equipment, comprehensive protection measures, reasonable transport procedures, and a perfect emergency plan, it is safe to use ECMO transport for COVID-19 patients.

Pre-testing preparation is the basis and starting point of genetic testing.The process includes collection of clinical information,formulation of testing scheme,genetic counseling before testing,and completion of informed consent and testing authorization.To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS),thereby reducing medical cost and improving clinical efficacy.The analysis of NGS results relies,to a large extent,on the understanding of genotype-phenotype correlations,therefore it is particularly important to collect and evaluate clinical phenotypes and describe them in uniform standard terms.Different types of genetic diseases or mutations may require specific testing techniques,which can yield twice the result with half the effort.Pre-testing genetic counseling can help patients and their families to understand the significance of relevant genetic testing,formulate individualized testing strategies,and lay a foundation for follow-up.

With high accuracy and precision,next generation sequencing (NGS) has provided a powerful tool for clinical testing of genetic diseases.To follow a standardized experimental procedure is the prerequisite to obtain stable,reliable,and effective NGS data for the assistance of diagnosis and/or screening of genetic diseases.At a conference of genetic testing industry held in Shanghai,May 2019,physicians engaged in the diagnosis and treatment of genetic diseases,experts engaged in clinical laboratory testing of genetic diseases and experts from third-party genetic testing companies have fully discussed the standardization of NGS procedures for the testing of genetic diseases.Experts from different backgrounds have provided opinions for the operation and implementation of NGS testing procedures including sample collection,reception,preservation,library construction,sequencing and data quality control.Based on the discussion,a consensus on the standardization of the testing procedures in NGS laboratories is developed with the aim to standardize NGS testing and accelerate implementation of NGS in clinical settings across China.

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.

Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18,the report will be provided to his/her parents or legal guardians).The content of genetic testing report should conform to relevant guidelines,industry standards and consensus.The decisions of clinicians will be made based on the report and clinical indications.Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members.A mechanism of follow-up visit after the genetic testing should be established with informed consent.Data should be shared by clinical institutions and genome sequencing institutions.As findings upon follow-up visit can help with further evaluation of the results,genome sequencing institutions should regularly re-analyze historical and follow-up data,and the updated results should be shared with clinical institutions.All activities involving reporting,genetic counselling,follow-up visiting,and re-analyzing should follow the relevant guidelines and regulations.

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.