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.

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 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.

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.

Objective:To explore the association and gene-environment interaction between single nu-cleotide polymorphisms (SNPs)involved in cell-cell adhesion and non-syndromic cleft lip with or without cleft palate (NSCL/P)among Chinese population.Methods:A total of 806 NSCL/P trios were drawn by an international consortium,which conducted a genome-wide association study (GWAS)using a case-parent trio design to investigate genes affecting risks to NSCL/P.The transmission disequilibrium test (TDT)was used to explore the association between cell-cell adhesion genes,including CDH1,CT-NNB1,PVRL1,PVRL2,PVRL3,ACTN1,VCL,LEF1,and NSCL/P.Conditional Logistic regression models were used to estimate effects on risk of exposed and unexposed children.Four common maternal exposures including maternal smoking,environmental tobacco smoke,alcohol consumption and multivita-min supplementation during pregnancy were included in this study.Results:A total of 226 SNP markers were tested after quality control in this study.Although 23 SNPs in three genes (CTNNB1,CDH1, ACTN1)showed nominal significant association with NSCL/P in the TDT (P <0.05).There were no sig-nificant evidence of linkage and association that remained in the transmission disequilibrium test after Bonferroni correction(P >0.000 2).Tests for gene-environment interaction yielded significant results be-tween rs7431 27 in ACTN1 and environmental tobacco smoke (P =0.000 1 )with an estimated OR (case |G and E)=2.00(95%CI:1 .23 -3.26)and OR (case |G no E)=0.59 (95%CI:0.38 -0.90).Among the lower P value results in gene-environment tests,there were no significant results be-tween rs1 475034,rs370535,rs227341 9 in ACTN1,rs1 06871 in CTNNB1 and environmental tobacco smoke interaction.There were also no significant results between rs7634000,rs2971 366,rs2634553, rs1 489032,rs762481 2 in PVRL3 and multivitamin supplementation during pregnancy in gene-environ-ment tests(P >0.000 2).Conclusion:There is no association between cell-cell adhesion genes,inclu-ding CDH1,CTNNB1,PVRL1,PVRL2,PVRL3,ACTN1,VCL,LEF1,and NSCL/P when the genes are considered alone.But our results suggest that SNPs in ACTN1 may influence the risk to NSCL/P through gene-environment interaction.

OBJECTIVETo identify the genetic etiology in a Chinese patient with neurofibromatosis type 1 (NF-1).

METHODSAll coding exons and the flanking sequences of neurofibromin 1 (NF1) gene from the patient were captured, individually barcoded and subjected to HiSeq2000 high-throughput sequencing. Suspected mutation was validated in the nuclear family members with Sanger sequencing.

RESULTSA novel indel mutation, c.789_790delAGinsT, was identified in the exon 8 of the NF1 gene in the patient but not in her asymptomatic parents. The mutation was predicted to have caused shifting of the reading frame and a premature downstream stop codon (p.K263Nfs*18). Two known polymorphisms, c.888+108 C>T (rs2953000) and c.888+118 G>T (rs2952999), was detected in the flanking of the indel mutation in the patient and her father. Sequencing chromatogram for the family indicates that above changes are located on the same chromosome.

CONCLUSIONThe c.789_790delAGinsT, as a de novo mutation occurring on the paternally derived chromosome, is most likely to be causative for the disease. Compared with Sanger sequencing, targeted next-generation sequencing is more efficient and can dramatically reduce the cost for the genetic testing of NF-1.

Adult ; Amino Acid Sequence ; Base Sequence ; Female ; Humans ; Molecular Sequence Data ; Neurofibromatosis 1 ; enzymology ; genetics ; Neurofibromin 1 ; genetics ; metabolism ; Point Mutation