Humans ; Consanguinity ; Exome Sequencing ; Mutation/genetics* ; Sequence Analysis, DNA ; Ciliary Motility Disorders ; Axonemal Dyneins/genetics*

Objective:To explore the feasibility and efficacy for the dissection and ligation of the superior laryngeal artery in endoscopic surgery for hypopharyngeal cancer.Methods:Eight cadaveric heads were selected, and the laryngopharynxes were harvested. The positions of the superior laryngeal arteries entering the larynxes were dissected and observed under endoscopic vision, and their anatomical characteristics were summarized. Twenty-nine patients (all were male, aged 39-74 years old) with hypopharyngeal cancer who underwent transoral endoscopic surgery at the Department of Otorhinolaryngology Head and Neck Surgery of the Second Xiangya Hospital, Central South University from January 2018 to December 2019 were selected, and the patients were randomly divided into two groups by drawing lots, namely, the superior laryngeal artery was actively dissected and occluded during surgery in observation group ( n=15) or not in control group ( n=14). The differences in surgical time, bleeding volume, postoperative complications, and postoperative disease-free survival rate were compared between the two groups. Statistical analysis was conducted using SPSS 25.0 software. Results:The entry point of the superior laryngeal artery into the larynx was approximately at the level of the superior edge of the thyroid cartilage, and entered the larynx at the posterior one-third of the lateral wall of the pyriform fossa. The superior laryngeal artery might be determined through endoscopic exploration in all patients of observation group. The endoscopic surgery time [(40.00±7.56) minutes] and intraoperative bleeding volume [(24.00±8.28) ml] in the observation group were respectively less than those [(48.57±14.06) minutes and (42.86±15.41) ml] in the control group, and the differences were statistically significant ( t=-2.064, P=0.049; t=-4.064, P=0.001). There was no case with postoperative bleeding in the observation group, but with one case of postoperative bleeding in the control group. Total disease free survival rate was 86.2% and there was no significant difference in disease free survival rates between the two groups during a follow-up period of at least 36 months ( P=0.986). Conclusion:Dissection of the superior laryngeal artery during endoscopic surgery for hypopharyngeal cancer is feasible, and pre-management and occlusion of the superior laryngeal artery can effectively reduce intraoperative bleeding.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

We conducted a prospective study to assess the non-inferiority of adjuvant chemotherapy alone versus adjuvant concurrent chemoradiotherapy (CCRT) as an alternative strategy for patients with early-stage (FIGO 2009 stage IB-IIA) cervical cancer having risk factors after surgery. The condition was assessed in terms of prognosis, adverse effects, and quality of life. This randomized trial involved nine centers across China. Eligible patients were randomized to receive adjuvant chemotherapy or CCRT after surgery. The primary end-point was progression-free survival (PFS). From December 2012 to December 2014, 337 patients were subjected to randomization. Final analysis included 329 patients, including 165 in the adjuvant chemotherapy group and 164 in the adjuvant CCRT group. The median follow-up was 72.1 months. The three-year PFS rates were both 91.9%, and the five-year OS was 90.6% versus 90.0% in adjuvant chemotherapy and CCRT groups, respectively. No significant differences were observed in the PFS or OS between groups. The adjusted HR for PFS was 0.854 (95% confidence interval 0.415-1.757; P = 0.667) favoring adjuvant chemotherapy, excluding the predefined non-inferiority boundary of 1.9. The chemotherapy group showed a tendency toward good quality of life. In comparison with post-operative adjuvant CCRT, adjuvant chemotherapy treatment showed non-inferior efficacy in patients with early-stage cervical cancer having pathological risk factors. Adjuvant chemotherapy alone is a favorable alternative post-operative treatment.
Female ; Humans ; Uterine Cervical Neoplasms/drug therapy* ; Prospective Studies ; Quality of Life ; Neoplasm Staging ; Chemoradiotherapy ; Chemotherapy, Adjuvant/adverse effects* ; Adjuvants, Immunologic ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Retrospective Studies

Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms. Although nearly 50 causative genes have been identified, they only account for approximately 70% of definitive PCD cases. Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants are likely to cause PCD. Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia, and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella. Subsequently, animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD, including chronic respiratory infection, male infertility, and hydrocephalus. To the best of our knowledge, this study is the first to report DNAH10 deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation is causative of PCD.
Humans ; Male ; Animals ; Mice ; Semen/metabolism* ; Dyneins/metabolism* ; Cilia/metabolism* ; Mutation ; Ciliary Motility Disorders/genetics*

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
Chronic Disease ; Cilia/pathology* ; Humans ; Kartagener Syndrome/genetics* ; Phenotype ; Sinusitis

Objective:This study was performed to investigate the feasibility of preservation of internal branch of superior laryngeal nerve(ibSLN) during transoral endoscopic surgery for hypopharyngeal squamous cancer(HSCC) and the influence on patient′s swallowing function after operation.Methods:From May 2020 to June 2021, the data of 29 HSCC patients who required for transoral endoscopic surgery in the Department of Otorhinolaryngology Head and Neck Surgery, the Second Xiangya Hospital of Central South University were prospectively included, and the included patients were divided into two groups randomly by lottery. According to whether ibSLN was actively dissected during operation, they were divided into ibSLN preservation group ( n=15) and control group ( n=14, without ibSLN preservation). Operation time, intraoperative hemorrhage, intraoperative neck dissection, postoperative radiotherapy, postoperative recurrence within 1 year, retention and swallowing function, the recovery of oral soft diet and the quality of life were compared between two groups. SPSS 25.0 software was used for statistical analysis. Results:The study included 29 eligible patients, including 25 males and 4 females.The age ranged from 42 to 67 (56.07±5.93) years. There were no significant differences( P>0.05) between 2 groups in the following data,including age( t=-0.56), gender( χ2=0.01), TNM stage(T stage χ2=0.29, N stage χ2=0.02), pathological diagnosis( χ2=0.03), preoperative swallowing function( χ2=0.00) and M. D. Anderson Dysphagia Inventory(MDADI) score(global t=0.55, emotional t=0.16, functional t=0.60, physical t=0.64), operation time( t=1.62) and intraoperative hemorrhage( t=-1.46), intraoperative neck dissection( χ2=0.01), postoperative radiotherapy( χ2=0.32), postoperative recurrence within 1 year( P>0.050). The swallowing function was evaluated by water swallowing test after operation. The swallowing function of ibSLN preservation group was better than control group, and the difference between two groups was statistically significant on the 1st ( χ2=4.44, P=0.035), 5th ( χ2=4.24, P=0.039) and 7th ( χ2=4.55, P=0.033) day after operation. On the 14th day after operation, the MDADI scores of patients in the ibSLN preservation group were higher than those in the control group in global ( t=2.45, P=0.021), functional ( t=2.54, P=0.017) and physical ( t=2.24, P=0.034) dimensions, except for emotional dimension ( t=1.89, P=0.070). The median time of oral soft diet( U=23.00, P<0.001), normal oral diet( U=21.00, P<0.001) and the nasogastric tube removal time ( U=18.50, P<0.001) in ibSLN preservation group was 2 days, 5 days and 6 days respectively, earlier than that in control group, which had statistically significant difference. Conclusion:Our results show that it is feasible to preserve the ibSLN during HSCC transoral endoscopic surgery, which can achieve rapid recovery of postoperative swallowing function.

Cox regression model is one of the most widely used methods in the survival analysis.One assumption of this model is that there is no tie in the failure times,that is,individual has different failure times.In practical applications,the existence of ties in time data is very common.In this paper,four common methods of dealing with ties in Cox model,including Exact method,discrete model method,Efron method and Breslow method,were compared with simulation.The results showed that Exact method and discrete model were the best,but they took the longest time.Efron method and Breslow method were faster but there was a greater deviation in parameter estimation.Moreover,the sample amount and ties degree also affect the results.In general,when there are a few ties,the difference between four methods was small;and in the case of large datasets or a large number of ties,the bias of three approximation methods increased except Exact method.However,there was no significant change on computational time.While the computational time of the Exact method increased rapidly.Therefore,if the estimation precision is not as important as the estimation time,Efron method and Breslow method will be good choices.Efron method is more preferably as it is more precise.And Breslow method tends to underestimate the true β.If there is no limit in time,Exact method and discrete model can be chosen to achieve more accurate results.

Objective In observational studies or non-randomized design,the researchers' ability to make causal inferences from data was hampered by confounding factors.This study used this method to analyze a group of observational medical data in order to instruct relevant medical personnel to carry out their own causal inference studies.Methods At present,the four main types of propensity scoring methods:matching,stratification,inverse probability weighting and covariate adjustment have been widely used in the study of causal inference.Propensity score method can theoretically eliminate the bias of the observable confounding factors,so that the treatments variables are close to the result of random assignment design,thus,it is estimated that the treatment factor has a causal effect on the outcome.Results Considering the advantages of the inverse probability weighting method over other methods,this paper summarizes the applicable conditions for the estimate of causal effect,particularly illustrates the use of a modern nonparametric statistical technology--Generalized Boosted Models (GBM) and its advantages and disadvantages.Conclusion When there is a lot of different types of confounding factors,and uncertain functional forms for their associations with treatment selection in linear,non-linear or interaction effect,and other issues,GBM propensity score weighting method can overcome the obstacles in the process of accurately estimating propensity score.

This article mainly introduces the functional clustering methods and demonstrates its performance by the real analysis of Chinese medical Zong Qi data.The functional clustering analysis hypothesizes that the discrete time series observations are dominated by a continuous function of time,which can be expressed by infinite basis functions.Functional clustering methods include raw data method,filtering method and adaptive method.When dealing with the sparse data clustering analysis,raw data method encounters the difficulty of matrix calculation due to the lack of data on some time grids.Filtering method suits for full time data,while when facing missing data,the fitting curve is inaccurate so that the clustering outcome cannot be explainable.Adaptive method can be applied flexibly to both full time and sparsely sampled data.In the real analysis section,the adaptive method is used to cluster the sparsely sampled Chinese medical Zong Qi time series data,where the elderly individuals are divided into three clusters,the ones with high level of Zong Qi,the ones with moderate level and those with low level.The adaptive method performs well on clustering individuals.