Objective To observe the short-term and long-term effect of microvascular decompression in patients with trigeminal neuralgia (TN).Methods The chnical data of 180 patients with TN treated with microvascular decompression were retrospectively analyzed.The pain improvement of patients in 2 years was observed,combined with age and course of disease,as well as the type of pressure vessels,whether obvious impression and so on,to analysis the recurrence factors of TN.Results All patients were found with vascular compression,including 93 cases with apparent pressure pressing mark,85 cases with arterial compression,15 cases with venous compression,and 8 cases with arteriovenous compression,among of them 74 patients with artery compression had pressure pressing mark,and 11 patients with vascular compression had pressure pressing mark,all of 8 patients with arteriovenous compression had pressure pressing mark.One week postoperatively,the patients with vascular compression gained significant improvement,of which 79 cases achieved optimal,6 cases achieved good;9 patients with vascular compression achieved optimal,6 cases achieved good,and 5 patients with arteriovenous compression achieved optimal,3 cases achieved good.Follow-up for 1 year after surgery,artery compression recurred in 5 cases,of which 3 cases of part recurrence,2 cases of recurrence completely ;vascular compression recurred in 6 cases;arteriovenous compression recurred in 2 cases.Univariate analysis showed that the vascular compression type,bascular compression notch and duration were the risk factors of postoperative recurrence (P ＜ 0.01).Multiple analysis showed that the vascular compression type,bascular compression degree and duration were the independent risk factors of postoperative recurrence (P ＜ 0.05).Conclusions TN patients treatd with microvascular decompression have effective improvement.History of diease,vascular compression type and compression degree are the important influence factors of postoperative recurrence.

OBJECTIVE: To explore the effects of Bushen Jianpi Huoxue Recipe, a compound traditional Chinese herbal medicine for tonifying the kidney, invigorating the spleen and promoting blood circulation, on tibial stress injuries in rabbits. METHODS: Thirty-five mature male rabbits were used in the experiment, and randomly divided into 7 groups: sedentary control (SC) group, 1-week exercise (E-1W) group, 2-week exercise (E-2W) group, 3-week exercise (E-3W) group, 4-week exercise (E-4W) group, 3-week exercise and 1-week Chinese herbal medicine treatment (EMT-1W) group, and 4-week exercise and 2-week Chinese herbal medicine treatment (EMT-2W) group. There were 5 rabbits in each group. A rabbit model of tibial stress injuries was established by stimulating the rabbits to jump and run within a high-voltage and low-current electronic cage. Radiologic features, bone scintigraphy, histology and electron microscopy of rabbit tibia were observed, and the content of blood parathyroid hormone (PTH), bone gla protein (BGP) and testosterone was detected by using radioimmunoassay method. RESULTS: After 2-week exercise, changes in histology and osteocytes had a tendency towards stress injuries. Serum PTH and BGP levels were remarkably increased, while serum testosterone level was lower than that in the SC group. Three- and four-week continuous exercise resulted in tibial stress injuries, and the positive changes were observed in X-ray features and radionuclide images. Compared with E-3W group, the levels of serum BGP and testosterone were decreased remarkably. A series of positive results such as prevailing negativeness of X-ray features and radionuclide images, increasing process of osteogenesis, typical osteogenic phase of osteocytes and favorable transformation of biochemical markers was shown in EMT-1W and EMT-2W groups. It also showed remarkable rising levels of serum BGP and testosterone and remarkable reducing level of serum PTH in EMT-1W and EMT-2W groups as compared with E-1W and E-2W groups. CONCLUSION: Bushen Jianpi Huoxue Recipe can prevent and treat exercise-induced tibial stress injuries by stimulating new bone formation and increasing serum testosterone level.

Objective:In this study, a gait acquisition and analysis system is developed to provide a cheap, easy-to-use solution for quantitative recording and analysis of patients' gaits.Methods:From April 2017 to October 2018, we collected the gait data of 19 patients with knee osteoarthritis and 19 healthy volunteers in the orthopaedic outpatient department. Among 19 patients, there were 9 males and 10 females, aged 50.1±9.4 years old. Among 19 healthy volunteers, there were 8 males and 11 females, aged 50.7±10.3 years old. Then, from the collected gait data, the static gait features such as gait speed, step length, stride, and dynamic gait features were automatically calculated, and the statistical difference analysis was finished to determine the correlation between these quantitative gait features and knee osteoarthritis.Results:Firstly, the gait data collected by the depth camera was compared with the data from the multi infrared camera-based motion analysis system (gold standard). The average angle error of the collected knee joint angle was 0.98 degrees, which proved the correctness of the gait data recorded by the depth camera. The statistical difference analysis of gait characteristics between the patient group and the healthy group showed that the gait characteristics with P<0.05 included: gait speed ( r=-0.922, P<0.001), step length ( r=-0.897, P=0.004), stride ( r=-0.914 , P<0.001), dynamic characteristics of angle of knee joint ( r=0.775, P=0.001). Conclusion:The gait acquisition and analysis system based on the depth camera can accurately record and store the gait data of the patients with knee osteoarthritis. Moreover, the extracted quantitative gait features have statistical differences between the patients and the healthy group, which is helpful for the gait analysis of bone joint.

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected with Multiple synostoses syndrome type 1 (SYNS1). METHODS: Clinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were carried out for the proband and her parents. RESULTS: The pedigree has comprised of 14 members from three generations, of whom six had manifested hearing loss, with other symptoms including proximal symphalangism, hemicylindrical nose, amblyopia, strabismus, brachydactyly, incomplete syndactyly, which fulfilled the diagnostic criteria for SYNS1. WES had detected no pathogenic single nucleotide variants and insertion-deletion (InDel) in the coding region of the NOG gene, whilst copy number variation (CNV) analysis indicated that there was a heterozygous deletion involving the NOG gene. WGS revealed a heterozygous deletion (54171786_55143998) in 17q22 of the proband. The CNV was classified as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The heterozygous deletion in 17p22 involving the NOG gene probably underlay the pathogenesis of SYNS1 in this pedigree. Above finding has enriched the mutational spectrum of NOG. CNV should be considered when conventional sequencing has failed to detect any pathogenic variants in such patients.
Female ; Humans ; DNA Copy Number Variations ; East Asian People ; Pedigree ; Synostosis ; Phenotype

Objective: To explore the clinical practice of delivering radiotherapy during the outbreak of 2019 novel coronavirus disease(COVID-19). Methods: During this epidemic period, available methods including but not limited to: strict disinfection, body temperature monitoring, learning relevant knowledge by all staffs to ensure the safety of radiotherapy treatment. Relevant data including proportion of radiotherapy, time from scanning to the first time of radiation delivery and degree of satisfaction in the view of staffs and patients, respectively. Results: A total of 60 patients received radiation therapy in the department of radiotherapy of Zhejiang Provincial People’s Hospital (2020-02-11). Compared with the same period in 2019 (after the Spring Festival), the total number of patients receiving radiotherapy was decreased from 72 to 60(83.3%). Among them, the number of patients receiving palliative radiation therapy decreased significantly, while the proportion of radical, preoperative and/or postoperative radiotherapy/radiochemotherapy did not significantly decrease. There was significant difference between different years (χ²=6.967, P<0.05). The median time for newly admitted patients to receive radiotherapy was two days, which was not significantly longer than the interval in 2019 (P>0.05). Staffs and patients were generally satisfied with the current prevention measures. Conclusions Using a variety of prevention and control methods, and taking full account of medical safety and patient benefits, radiation-related activities can be carried out during the epidemic.

Objective:To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing.Methods:The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and pedigree analysis. The clinical examinations included imaging examination, audiometry (pure tone audiometry, acoustic immittance, brainstem auditory evoked potential, and otoacoustic emission), vestibular function test, and ophthalmic examination (visual acuity test, visual field test, fundus examination, visual evoked potential, and electroretinogram). Target exome sequencing of 129 known deafness genes and bioinformatics analysis were used to screen suspected pathogenic variants. Sanger sequencing and minigene assay were used to verify and functionally investigate the mutation detected, respectively. According to the standards and guidelines for interpreting genetic variants proposed by the American College of Medical Genetics and Genomics, the variants c.6049G>A and c.8699A>G were classified as pathogenic/likely pathogenic, and the variant c.9856C>G was classified as variants of uncertain significance.Results:The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect, and normal vestibular function. Both of them had three CDH23 mutations, including CDH23 (NM_022124.5) c.6049G>A (p.Gly2017Ser),c.9856C>G (p.His3286Asp), and c.8699A>G (p. Asp2900Gly), The first two were inherited from the father, and the last one was from the mother. The missense variants c.9856C>G and c.8699A>G were not included in the gnomad database. The missense mutation c.6049G>A was located in the last position of exon 46 and was predicted to affect splicing by bioinformatics software. The minigene experiment showed that the mutation cause exon skipping of exon 46, resulting in an abnormal protein. Conclusions:Compound heterozygous variations of the CDH23 are the leading cause of USH1D in the family. This study confirms that the compound heterozygosity of splicing and missense variants of the CDH23 gene could lead to USH1D.

Objective To investigate the influence of exposure to different concentrations of ethanol on neural progenitor cells and the differentiation of neurons and glial cells in zebrafish embryos. Methods Zebrafish embryos were exposed to 1%, 2%, and 2.5%(V/V) ethanol at 5 hpf by adding ethanol to the egg water. In situ hybridization and real-time PCR were used to detect the changes in the mRNA expression profiles of the markers of different cells to examine the effects of alcohol on neural development. Results The number of neural precursor cells, neurons and mature glial cells was significantly reduced in the zebrafish embryos following ethanol exposure, and this reduction became more prominent as the ethanol concentration increased. The expression of the early glial marker slc1a3a was down-regulated in the spinal cord but increased in the brain after exposure to increased ethanol concentrations. The expression of the mature glial markers was significantly lowered in response to exposure to increasing ethanol concentrations. Conclusion Ethanol can reduce neural precursor cells and inhibits neuronal and glial differentiation in zebrafish embryos.

Objective To investigate the influence of exposure to different concentrations of ethanol on neural progenitor cells and the differentiation of neurons and glial cells in zebrafish embryos. Methods Zebrafish embryos were exposed to 1%, 2%, and 2.5%(V/V) ethanol at 5 hpf by adding ethanol to the egg water. In situ hybridization and real-time PCR were used to detect the changes in the mRNA expression profiles of the markers of different cells to examine the effects of alcohol on neural development. Results The number of neural precursor cells, neurons and mature glial cells was significantly reduced in the zebrafish embryos following ethanol exposure, and this reduction became more prominent as the ethanol concentration increased. The expression of the early glial marker slc1a3a was down-regulated in the spinal cord but increased in the brain after exposure to increased ethanol concentrations. The expression of the mature glial markers was significantly lowered in response to exposure to increasing ethanol concentrations. Conclusion Ethanol can reduce neural precursor cells and inhibits neuronal and glial differentiation in zebrafish embryos.

Objective:To explore the association between blood pressure control and risk of ischemic stroke (IS) in patients with hypertension.Methods:A total of 5 488 patients with hypertension from 60 communities were randomly selected from 101 communities in 8 streets of Nanshan District in Shenzhen City by using two-stage sampling method. The social demographic characteristics, behavior and life style, coronary heart disease and diabetes were collected and the physical condition, blood pressure and blood biochemical indexes were measured. From April 1, 2010 to August 31, 2017 as the follow-up period, the incidence of IS was annually collected by using telephone survey. Cox proportional hazard regression model was used to analyze the relationship between blood pressure control, systolic blood pressure (SBP), diastolic blood pressure (DBP) and the risk of IS.Results:The age of all patients was (58.50±12.14) years old, including 2 712 males (49.42%) and 3 112 patients with well-controlled blood pressure (56.71%). During the follow-up period, 358 new cases of IS were confirmed, and the incidence density was 1 346.27/100 000 person-years. Cox proportional hazard regression model analysis showed after adjusting for confounding factors, unstable blood pressure control, SBP≥150 mmHg (1 mmHg=0.133 kPa; compared with SBP<120 mmHg), and DBP≥95 mmHg (compared with DBP<80 mmHg) were associated with risk of IS. The HR (95% CI) was 1.29 (1.04, 1.59), 2.00 (1.26, 3.17) and 1.52 (1.01, 2.64), respectively. Subgroup analyses showed these associations only existed in female patients with hypertension. The HR (95% CI) was 1.39 (1.05, 1.85), 2.53 (1.41, 4.56) and 1.73 (1.00, 3.36), respectively. Conclusion:Unstable blood pressure control increases the risk of IS in female patients with hypertension.

Objective:To explore the association between blood pressure control and risk of ischemic stroke (IS) in patients with hypertension.Methods:A total of 5 488 patients with hypertension from 60 communities were randomly selected from 101 communities in 8 streets of Nanshan District in Shenzhen City by using two-stage sampling method. The social demographic characteristics, behavior and life style, coronary heart disease and diabetes were collected and the physical condition, blood pressure and blood biochemical indexes were measured. From April 1, 2010 to August 31, 2017 as the follow-up period, the incidence of IS was annually collected by using telephone survey. Cox proportional hazard regression model was used to analyze the relationship between blood pressure control, systolic blood pressure (SBP), diastolic blood pressure (DBP) and the risk of IS.Results:The age of all patients was (58.50±12.14) years old, including 2 712 males (49.42%) and 3 112 patients with well-controlled blood pressure (56.71%). During the follow-up period, 358 new cases of IS were confirmed, and the incidence density was 1 346.27/100 000 person-years. Cox proportional hazard regression model analysis showed after adjusting for confounding factors, unstable blood pressure control, SBP≥150 mmHg (1 mmHg=0.133 kPa; compared with SBP<120 mmHg), and DBP≥95 mmHg (compared with DBP<80 mmHg) were associated with risk of IS. The HR (95% CI) was 1.29 (1.04, 1.59), 2.00 (1.26, 3.17) and 1.52 (1.01, 2.64), respectively. Subgroup analyses showed these associations only existed in female patients with hypertension. The HR (95% CI) was 1.39 (1.05, 1.85), 2.53 (1.41, 4.56) and 1.73 (1.00, 3.36), respectively. Conclusion:Unstable blood pressure control increases the risk of IS in female patients with hypertension.