Objective To study the effects of dual-hemispheric transcranial direct current stimulation(Dual-tDCS)on upper limb motor function in chronic-phase stroke patients to provide theoretical references for neural mechanisms-based treatment of upper limb dysfunction.Methods Totally 24 chronic-phase stroke patients with upper limb motor dysfunction were selected from some hospital and divided into an experimental group(n=13)and a control group(n=11)the random number table.The control group was treated with tDCS pseudo-stimulation combined with conventional rehabilitation,while the experimental group was given with Dual-tDCS combined with conventional rehabilitation.The patient activities were assessed before and after treatment with Fugl-Meyer assessment upper limb scale(FMA-UL)and activities of daily living(ADL)scale.The changes of primary motor cortex(M1 area)and whole brain functional connectivity(FC)were compared before and after treatment.SPSS 24.0 statistical software was used for data analysis.Results After treatment,the two groups both had the FAM-UL and ADL scores increased significantly,and the experimental group had the scores statistically higher than those of the control group,and the differences were all statistically significant(P＜0.05).In the control group,the analysis on M1 area and whole brain FC after treatment indicated the FC decreased from M1 area at the unaffected side to midoccipital gyrus at the affected side and lingual gyrus and healthy angular gyrus at the unaffected side;there were no brain areas with changed FC found(P＜0.01).In the experimental group,the FC was lowered from M1 area at the unaffected side to cerebellum and cerebellar vermis at the unaffected side,while raised to precentral gyrus at the affected side(P＜0.01);the FC ascended from M1 area at the affected side to cerebellum and middle temporal gyrus at the affected side,while declined to precentral gyrus at the unaffected side(P＜0.01).Conclusion The neuromodulatory effect of Dual-tDCS on the brain improves FC in motor and non-motor-related brain areas in chronic-phase stroke patients,and may contribute to rehabilitation of upper limb motor dysfunction in chronic-phase stroke.[Chinese Medical Equipment Journal,2024,45(2):67-73]

To explore the application value of whole exome sequencing (WES) in the diagnosis of prenatal and postnatal neurodevelopmental disorders (NDDs). A total of 70 patients diagnosed with NDDs who underwent WES at the Medical Genetics Center of the Maternal and Child Health Hospital of Hubei Province between June 2020 and July 2021 were retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples and amniotic fluid. WES-based copy number variant (CNV) analysis was integrated into the routine WES data analysis pipeline. The results showed that a molecular diagnosis rate could be made in 21/70 (30%) cases. Of 21 positive cases, 14 (23%) cases were detected by single-nucleotide variant/small insertion/deletion (SNV/Indel) analysis, of which 12 variants were novel, 6 (9.8%) cases were detected by WES-based CNV analysis, and 1 (1.6%) case was detected by a combination of both. The diagnostic yield of WES combined with CNV analysis was higher than that of SNV/Indel analysis alone (30%, 21/70 vs. 20%, 14/70). Of the 28 prenatally diagnosed cases, 6 cases were found to have inherited parental variation for NDDs, 10 cases were found not to have the same pathogenic variation as the proband, and the remaining 12 cases were found to have no pathogenic or likely pathogenic variation that could explain the NDDs phenotype. Clinical follow-up showed that 5 families opted for abortion and the remaining had no current abnormalities. In conclusion, WES may be an effective method to clarify the genetic etiology and prenatal diagnosis of NDDs, which is helpful in assessing the prognosis to aid clinical management and reproductive guidance.
Pregnancy ; Humans ; Female ; Exome Sequencing ; Retrospective Studies ; Prenatal Diagnosis ; Amniotic Fluid ; Phenotype

Child ; Humans ; Factor VII Deficiency

OBJECTIVE: To derive the Chinese medicine (CM) syndrome classification and subgroup syndrome characteristics of ischemic stroke patients. METHODS: By extracting the CM clinical electronic medical records (EMRs) of 7,170 hospitalized patients with ischemic stroke from 2016 to 2018 at Weifang Hospital of Traditional Chinese Medicine, Shandong Province, China, a patient similarity network (PSN) was constructed based on the symptomatic phenotype of the patients. Thereafter the efficient community detection method BGLL was used to identify subgroups of patients. Finally, subgroups with a large number of cases were selected to analyze the specific manifestations of clinical symptoms and CM syndromes in each subgroup. RESULTS: Seven main subgroups of patients with specific symptom characteristics were identified, including M3, M2, M1, M5, M0, M29 and M4. M3 and M0 subgroups had prominent posterior circulatory symptoms, while M3 was associated with autonomic disorders, and M4 manifested as anxiety; M2 and M4 had motor and motor coordination disorders; M1 had sensory disorders; M5 had more obvious lung infections; M29 had a disorder of consciousness. The specificity of CM syndromes of each subgroup was as follows. M3, M2, M1, M0, M29 and M4 all had the same syndrome as wind phlegm pattern; M3 and M0 both showed hyperactivity of Gan (Liver) yang pattern; M2 and M29 had similar syndromes, which corresponded to intertwined phlegm and blood stasis pattern and phlegm-stasis obstructing meridians pattern, respectively. The manifestations of CM syndromes often appeared in a combination of 2 or more syndrome elements. The most common combination of these 7 subgroups was wind-phlegm. The 7 subgroups of CM syndrome elements were specifically manifested as pathogenic wind, pathogenic phlegm, and deficiency pathogens. CONCLUSIONS There were 7 main symptom similarity-based subgroups in ischemic stroke patients, and their specific characteristics were obvious. The main syndromes were wind phlegm pattern and hyperactivity of Gan yang pattern.
Humans ; Syndrome ; Ischemic Stroke ; Medicine, Chinese Traditional ; Liver ; Phenotype

Objective: To understand the consistency and factors influencing rural parents knowledge, attitude and practice about early childhood sex education, so as to put forward effective suggestions and countermeasures for improving childhood sex education in rural areas. Methods: A multi stage stratified sampling method was used to investigate the knowledge, attitude and practice of early childhood sex education among 1 015 parents in 16 kindergartens in rural areas of Sichuan from March to May 2019. Chi square text and multivariate Logistic regression analysis were used to analyze factors affecting the consistency of parents knowledge, attitude and practice of childhood sex education. Results: Nearly 64.9%, 85.9% and 44.7% of parents with sufficient knowledge, support, and implement of early children s sex education, respectively, and the consistency rate of knowledge, attitude and practice were 30.2%. The results of the multivariate Logistic regression analysis showed that parents aged <31 years ( OR= 5.35 , 95%CI =2.93-9.77), 31-40 years ( OR=4.82, 95%CI =2.65-8.76) and 41-50 years ( OR=2.37, 95%CI =1.10-5.11), and the mother s education level being middle school ( OR=3.67, 95%CI =1.75-7.69), secondary/high school ( OR=2.83, 95%CI =1.32-6.05) and college/bachelor s degree and above ( OR=5.44, 95%CI =2.23-12.98), sex related questions asked by child ( OR=2.00, 95%CI =1.44-2.78), having sex education in the family ( OR=5.38, 95% CI =3.82-7.59), believing that parents should be responsible for sex education for young children ( OR=2.58, 95%CI =1.40-4.74) had a higher consistency rate of knowledge, attitude and practice in early childhood sex education ( P <0.05). Conclusion In rural areas of Sichuan, although parents highly support early childhood sex education, the eligible rate of knowledge and the implementing rate are quite low, as well as the consistent rate of knowledge, attitude and practice. Relevant departments should pay attention to strengthen publicity and education, especially among older parents, low educated parents and those opposed to or not yet implementing child sex education.

Objective:The purpose of this study was to investigate the effect of voice therapy via telepractice on voice function in laryngopharyngeal reflux disease (LPRD) patients.Methods:The prospective study included 120 patients from January 2021 to July 2022 with dyspnea and LPRD diagnosed at the department of otolaryngology head and neck surgery of the First Hospital of Shanxi Medical University. These patients were then randomly divided into standard treatment group (group A), combined face-to-face voice therapy group (group B) and combined telepractice voice therapy group (group C). We collected and compared data on curative effect in patients with LPRD at the 8th week(Stage 1) and the 12th week of treatment(Stage 2) and the 6th week post-treatment(Stage 3). Statistical analysis was performed using SPSS 22.0.Results:One hundred and twenty patients with LPRD and dyspnea were included in the study (63 men, 57 women, 18-65 years old). At stage 1, there were statistically significant differences among the three groups in Voice Handicap Index(VHI), Reflux Symptom Index (RSI) and Reflux Finding Score(RFS) ( F=13.72, P<0.05; F=62.50, P<0.05; F=3.78, P<0.05). VHI and RSI in group B and C were significantly smaller than those in group A, VHI and RSI in group C were significantly smaller than those in group B, and RFS in group C was significantly smaller than that in group A and B. At stage 2, there were statistically significant differences between the three groups in Maximum Phonation Time(MPT), Dysphonia Severity Index(DSI), VHI, RSI and RFS( F=8.49, P<0.05; F=3.24, P<0.05; F=8.55, P<0.05; F=19.92, P<0.05; F=12.19, P<0.05). MPT and DSI in group B and C were significantly larger than those in group A. The scores of VHI, RSI and RFS in group B and C were significantly smaller than those in group A, and RFS in group C was significantly smaller than that in group B. At stage 3, there were statistically significant differences among the three groups in Jitter, MPT, DSI, VHI( F=3.19, P<0.05; F=19.37, P<0.05; F=43.56, P<0.05; F=11.05, P<0.05), and there were statistically significant differences among the three groups in RSI and RFS( F=25.58, P<0.05; F=11.82, P<0.05). MPT and DSI in group B and C were significantly larger than those in group A. The scores of VHI and RSI in group B and C were significantly smaller than those in group A, and RFS in group C was significantly smaller than those in group A and B. Conclusion:Telepractice can be used in patients with LPRD and dyspnea as an alternative to face-to-face voice therapy with better long-term outcomes.

AIM: To observe the macular retina vascular density of patients with acute central retinal artery occlusion(CRAO)by optical coherence tomography angiography(OCTA)and to analyze the relationship with retinal circulation time of these patients on fundus fluorescein angiography(FFA).METHODS: Retrospective case analysis. A total of 43 patients(43 eyes)from January 2019 to March 2021 admitted to Shaanxi Eye Hospital with clinical diagnosis of acute CRAO(course of disease ≤7d)were included. All patients underwent FFA, OCTA, best corrected visual acuity(BCVA)examination and thrombolytic therapy. The patients with enhanced or unchanged retinal blood flow signal in the affected eye showed on OCTA before treatment compared with the contralateral healthy eye were assigned to group A, and the patients with retinal blood flow signal of the affected eye was lower than that in the contralateral healthy eye by OCTA were assigned to group B. Image J software was used for OCTA image processing to evaluate the macular retina vascular density before treatment, and FFA examination was performed to record the affected retinal circulation time before treatment.RESULTS: The retinal vascular density of patients in the affected eye and the contralateral healthy eye in group A was higher than that in group B(25.08%±4.40% vs 12.24%±3.41%, 25.72%±2.70% vs 17.89%±4.55%, all P<0.001), the filling time(FT)of retinal artery trunk to terminal in group B [96(20.50, 193.50)s] was longer than that in group A [11(5.00, 19.50)s](P<0.001). The course of disease, the retinal vascular density of contralateral healthy eye and FT were related factors of retinal vascular density of the affected eye(all P<0.05), and the influence strength order was FT, course of disease and the retinal vascular density of contralateral healthy eye, in which the course of disease and FT was negatively correlated with the retinal vascular density.CONCLUSION: OCTA retinal vascular density was correlated with FFA retinal circulation time in CRAO patients.

The reconstruction of tactile function during the repair of skin damage caused by factors including burns is inseparable from the functional regeneration of tactile receptor Merkel cells. Merkel cells mainly exist in the basal layer of the epidermis and are closely connected with nerves to form Merkel cell-nerve complexes, which play an important role in biological organisms. A large number of studies have shown that Merkel cells conduct precise transmission of mechanical force stimuli through the mechanically gated ion channels PIEZO2, and perform the function of tactile receptors. In this paper, we discussed the characteristics of Merkel cells and analyzed the different subgroups that may possibly exist in this type of cells and their functions, at the same time, we investigated the animal model research of touch-related diseases and the clinical diseases related to touch, revealing the importance of Merkel cell function research.
Animals ; Ion Channels/metabolism* ; Mechanotransduction, Cellular/physiology* ; Merkel Cells/physiology* ; Skin/metabolism* ; Touch/physiology*

OBJECTIVE: To establish the fixation model of anterior cervical transpedicular system (ACTPS) after subtotal resection of two segments of lower cervical spine(C₃-C₇) in order to provide a finite element modeling method for anterior cervical reconstruction. METHODS: The CT data of the cervical segment (C₁-T₁) of a 30-year-old adult healthy male volunteer was collected. Used Mimics 10.0, Rapidform XOR3, HyperMesh 10.0, CATIA5V19 and ANSYS 14.0 to establish the three-dimensional nonlinear complete model of lower cervical spine(C₃-C₇) as the intact group. The number of units and nodes of the complete model were recorded. After the effectiveness of the complete model was verified, the C₅ and C₆ vertebral subtotal resection was performed, and the ACTPS model was established as the ACTPS group. The axial force of 75 N and moment couple of 1N·m was loaded on the upper surface of C₃ in intact group and ACTPS group, the range of motion(ROM)and stress distribution in states of flexion extension, lateral flexion, rotation was compared between two groups. RESULTS: There were 85 832 elements and 23 612 nodes in the complete model of lower cervical spine(C₃-C₇) which was established in this experiment. The stress distribution of ACTPS internal fixation model was relatively uniform. Comparing with the intact group, the overall range of motion in ACTPS group was decreased in flexion extension, lateral flexion and rotation directions, and the corresponding compensation of adjacent C_3,4 segment was increased slightly. CONCLUSION The stress distribution of ACTPS fixation system is uniform, there is no stress concentration area at the joint of screw and titanium plate, and the fracture risk of internal fixation is low. It is suitable for stability reconstruction after anterior decompression of two or more cervical segments.
Adult ; Biomechanical Phenomena ; Bone Screws ; Cervical Vertebrae/surgery* ; Finite Element Analysis ; Humans ; Male ; Range of Motion, Articular ; Spinal Fusion

OBJECTIVE: To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan. METHODS: A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary. RESULTS: Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous. CONCLUSION A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.
Asians/genetics* ; Female ; Genotype ; Glucosephosphate Dehydrogenase/genetics* ; Glucosephosphate Dehydrogenase Deficiency/genetics* ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation