Objective:To investigate the molecular characteristics and clinical heterogeneity of Usher syndrome（USH） -related gene variants in patients with hereditary hearing loss in southwest China, providing a basis for early diagnosis and clinical management. Methods:Thirteen patients from twelve families with hearing loss who attended the Affiliated Children's Hospital of Kunming Medical University between January 2017 and March 2021 were enrolled. All patients were identified as carrying USH-related gene variants through next-generation sequencing. Sanger sequencing was performed for all patients and their parents to validate the pathogenic variants. Comprehensive clinical evaluations, including medical history collection, otologic and ophthalmologic examinations, and vestibular function assessments, were conducted. Results:Among the 13 patients, 4 were diagnosed with USH type 1 and 2 with USH type 2. A total of 19 pathogenic or likely pathogenic variants were detected in USH-related genes, including MYO7A,CDH23,USH1C, and USH2A. The causative gene was MYO7A in 3 probands, CDH23 in 5, USH1C in 3, and USH2Ain 2. All patients exhibited an autosomal recessive inheritance pattern. Vestibular dysfunction was observed in 4 patients, and retinitis pigmentosa（RP） in 3 patients. Based on the genotype-phenotype correlation, 6 patients were initially diagnosed with USH, while 7 were classified as having non-syndromic hearing loss（NSHL）. Conclusion:This study revealed the clinical heterogeneity of USH-related gene variants in patients with hereditary deafness in southwest China. Although the clinical manifestations of USH are complex and there are overlapping characteristics between different subtypes, genetic testing provides an important basis for early diagnosis and precise clinical management. Especially for those with typical hearing loss, early genetic diagnosis can provide a window of time for early detection and intervention of retinitis pigmentosa.
Humans ; Usher Syndromes/genetics* ; Myosin VIIa ; Phenotype ; Male ; Female ; Myosins/genetics* ; Mutation ; Cadherins/genetics* ; Child ; Extracellular Matrix Proteins/genetics* ; Adolescent ; Pedigree ; High-Throughput Nucleotide Sequencing ; Cadherin Related Proteins ; Cytoskeletal Proteins ; Cell Cycle Proteins

Objective To explore the predictive value of combined serum soluble hemoglobin scavenger receptor 163(sCD163),hypersensitive C-reactive protein(hs-CRP),and procalcitonin(PCT)for stroke-associated pneumonia(SAP).Methods A total of 100 patients with acute ische-mic stroke admitted to the First Hospital of Zhangjiakou from October 2021 to January 2023 were se-lected as the study subjects.According to whether they developed SPA within 7 days of admission,they were divided into SAP group(n=64)and non-SAP group(n=36).Based on pneumonia se-verity index(PSI),patients in the SAP group were further divided into mild SAP group and severe SAP group.Enzyme-linked immunosorbent assay(ELISA)was used to detect the serum levels of sCD163,hs-CRP,and PCT.The clinical data of the patients were collected and compared.Pearson's method was used to analyze the correlation between the PSI score and the serum levels of sCD163,hs-CRP,and PCT in SAP patients.Multivariate Logistic regression analysis was employed to screen for factors influencing the occurrence of SAP.Receiver operating characteristic(ROC)curve analy-sis was used to evaluate the predictive efficacy of serum sCD163,hs-CRP,and PCT for the occur-rence of SAP.Results The proportion of patients with dysphagia and the National Institutes of Health Stroke Scale(NIHSS)score in the SAP group were significantly higher than those in the non-SAP group(P＜0.05).The serum levels of sCD163,hs-CRP,and PCT in the SAP group were significantly higher than those in the non-SAP group(P＜0.05).The serum levels of sCD163,hs-CRP,and PCT in the severe SAP group were significantly higher than those in the mild SAP group(P＜0.05).Pearson's correlation analysis showed that the PSI score was positively correlated with the serum levels of sCD163,hs-CRP and PCT in SAP patients(r=0.356,0.413,0.391,P＜0.001).Logistic regression analysis revealed that serum sCD163,hs-CRP,PCT,NIHSS score,and dysphagia were all influencing factors for the occurrence of SAP(P＜0.05).The areas under the curve(AUC)for predicting SAP using serum sCD163,hs-CRP,PCT and their combina-tion were 0.842,0.924,0.866 and 0.973,respectively,with sensitivities of 73.44％,84.37％,67.19％and 90.62％,and specificities of 88.89％,83.33％,97.22％and 94.44％,respectively.The predictive value of the combined detection was superior to that of the individual detection of ser-um sCD163,hs-CRP and PCT(P＜0.05).Conclusion The serum levels of sCD163,hs-CRP,and PCT are elevated in SAP patients,and their changes are closely related to the severity of the disease.The combined detection of these three indicators has a high value in predicting the occur-rence of SAP and may serve as auxiliary markers for predicting early SAP.

Objective: To observe and compare the clinical effects of different electroacupuncture waveforms on primary dysmenorrhea. Methods: This was a prospective, randomized, three-group, parallel-controlled trial. Participants with primary dysmenorrhea were randomly divided into dense-sparse wave, continuous wave, and discontinuous wave groups in a 1:1:1 ratio. Two lateral Ciliao (BL 32) points were used. All three groups started treatment 3–5 days before menstruation, once a day for six sessions per course of treatment, one course of treatment per menstrual cycle, and three menstrual cycles. The primary outcome measure was the proportion with an average visual analog scale (VAS) score reduction of ≥50% from baseline for dysmenorrhea in the third menstrual cycle during treatment. The secondary outcome measures included changes in dysmenorrhea VAS scores, Cox Menstrual Symptom Scale scores and the proportion of patients taking analgesic drugs. Results: The proportion of cases where the average VAS score for dysmenorrhea decreased by ≥50% from baseline in the third menstrual cycle was not statistically significant (P > .05). Precisely 30 min after acupuncture and regarding immediate analgesia on the most severe day of dysmenorrhea, there was a statistically significant difference in the dense-sparse wave group compared with the other two groups during the third menstrual cycle (P < .05). Additionally, there was a statistically significant difference between the dense-sparse wave and discontinuous wave groups 24 h after acupuncture (P < .05). Conclusions Waveform electroacupuncture can alleviate primary dysmenorrhea and its related symptoms in patients. The three groups showed similar results in terms of short- and long-term analgesic efficacy and a reduction in the number of patients taking analgesic drugs. Regarding achieving immediate analgesia, the dense-sparse wave group was slightly better than the other two groups.

Objective To detect the serum levels of CC chemokine receptor 2(CCR2)and C-reactive pro-tein(CRP)in stroke patients,and analyze their relationship with the severity of stroke associated pneumonia and their clinical significance.Methods A total of 78 patients with stroke associated pneumonia who were di-agnosed and treated in the hospital from October 2022 to February 2023 were collected as the study group,ac-cording to the severity of pneumonia,the study group was divided into mild group(31 cases),moderate group(29 cases),and severe group(18 cases),78 stroke patients who did not develop pneumonia were included into control group.Pearson method was applied to analyze the correlation between serum CCR2 and CRP levels in stroke associated pneumonia patients.Multivariate Logistic regression was applied to analyze the factors influ-encing the occurrence of stroke associated pneumonia.Receiver operating characteristic(ROC)curve was ap-plied to analyze the diagnostic value of serum CCR2 and CRP for stroke associated pneumonia.Results The National Institute of Health stroke scale(NIHSS)score,serum CCR2,and CRP levels in the study group were obviously higher than those in the control group(P<0.05).The levels of serum CCR2 and CRP increased with the aggravation of pneumonia(P<0.05).The levels of serum CCR2 and CRP in the study group were positively correlated(r=0.799,P<0.05).NIHSS score,CCR2,and CRP levels were risk factors for stroke associated pneumonia in stroke patients(P<0.05).The area under the curve(AUC)for the diagnosis of stroke associated pneumonia using serum CCR2 and CRP alone was 0.873 and 0.888,respectively,and the AUC for the combined detection of the two was 0.936,the combined detection of the two was superior to the individual detection of serum CCR2 and CRP(Zcombination-CCR2=1.987,Zcombination-CRP=1.832,P=0.041,0.047).Conclusion Serum CCR2 and CRP are closely related to the severity of stroke associated pneumonia,and their combined detection has high diagnostic value for stroke associated pneumonia.

Objective:To analyze the clinical characteristics and neurophysiological features of patients with neuralgic amyotrophy (NA) and explore their neurological function status.Methods:Clinical data and neurophysiological findings of 90 patients diagnosed with NA at Beijing Tsinghua Changgung Hospital from September 2016 to January 2024 were collected and their clinical phenotypes and neurophysiological characteristics were systematically summarized and analyzed.Results:Among the 90 patients, males accounted for 60.0% (54 cases) and females accounted for 40.0% (36 cases). The duration of the disease was 12 (3, 36) months (ranged from 1 week to 5 years). The onset age of the patients was 58 (30, 70) (21-87) years. Unilateral involvement was noted in 94.4% (85/90) of patients, exhibiting a left-to-right ratio of 1∶1.3, while only 5.6% (5/90) had bilateral involvement. The majority of patients demonstrated a monophasic clinical course with a recurrence rate of just 2.2% (2/90). The primary clinical manifestations included upper limb pain in 70.0% (63/90) of patients, which progressed to muscle weakness and atrophy within 1 day to 1 month, whereas 30.0% (27/90) of patients without significant pain symptoms. Lesions predominantly affected the upper trunk of the brachial plexus, which accounted for 64.4% (58/90) of patients. Distal nerve injuries in the upper limb were observed in 14.4% (13/90) of patients, with 6.7% (6/90) demonstrating isolated anterior interosseous nerve involvement and another 6.7% (6/90) exhibiting isolated posterior interosseous nerve involvement; 1 case had concurrent anterior and posterior interosseous nerve damage. Additionally, 1 case presented with bilateral phrenic nerve involvement, and another patient had isolated posterior tibial nerve injury. Electrophysiological evaluations of patients with NA revealed that axonal damage to motor nerve fibers was a hallmark feature of the condition. Among patients undergoing motor nerve conduction studies, 68.8% (55/80) exhibited decreased compound muscle action potential amplitude, and 31.3% (25/80) had prolonged latency. Sensory nerve conduction was normal in 60.0% (48/80) of patients, while abnormalities included prolonged latency in 15.0% (12/80), reduced amplitude in 12.5% (10/80), slowed conduction velocity in 8.8% (7/80), and absent waveforms in 3.8% (3/80) of patients. The rates of abnormal nerve conduction findings in motor nerves were the highest in the suprascapular nerve (70.6%, 36/51), followed by the axillary nerve (58.3%, 35/60), musculocutaneous nerve (50.7%, 35/69), long thoracic nerve (6/17), and both anterior and posterior interosseous nerves (7.5%, 6/80 each). In sensory nerves, abnormalities were predominantly noted in the lateral antebrachial cutaneous nerve (30.0%, 12/40). Needle electromyography demonstrated neurogenic damage, most frequently affecting the infraspinatus muscle (69.2%, 18/26), biceps brachii (68.1%, 49/72), and deltoid muscle (65.3%, 47/72). The positive rate of magnetic resonance neurography (MRN) for NA was 62.1% (41/66), among which 63.4% (26/41) showed localized swelling of the brachial plexus, 51.2% (21/41) exhibited T 2 hyperintensity, and 4.9% (2/41) demonstrated denervated changes in the muscles. The positive rate of ultrasound for NA was 71.1% (59/83), with 91.5% (54/59) showing nerve swelling and 8.5% (5/59) exhibiting hourglass constriction .Conclusions:NA is a peripheral neuropathy characterized by spontaneous pain, limb weakness, and (or) muscle atrophy primarily. Its clinical phenotype predominantly involves damage to the upper trunk of the brachial plexus, which can also manifest as isolated mononeuropathy. Neurophysiological findings most commonly reveal the neurogenic damage to the muscles innervated by the upper trunk of the brachial plexus, mainly characterized by the axonal damage to the motor nerves, and pure motor nerve damage may also be observed. MRN and neuroultrasound can assist in qualitative diagnosis.

Objective To investigate the diagnostic value of serum soluble fms-like tyrosine kinase 1(sFlt-1)and soluble differentiation cluster 14(sCD14)in stroke-associated pneumonia(SAP).Methods A total of 67 SAP patients admitted to the hospital from March 2022 to January 2023 were selected as the study group,and 50 stroke patients without pneumonia during the same period were selected as the control group.Enzyme-linked immunosorbent assay was used to measure serum sFlt-1 and sCD14 levels.Pearson correlation analysis was used to analyze the correlation between serum sFlt-1,sCD14 levels and clinical data.Multivariate Logistic regression was used to analyze the influencing factors of SAP in patients with stroke.Receiver operating char-acteristic(ROC)curve was used to analyze the diagnostic value of serum sFlt-1 and sCD14 levels in predicting SAP in patients with stroke.Results The serum levels of sFlt-1 and sCD14 in SAP patients were higher than those in stroke patients without pneumonia and stroke patients with pneumonia alone(P＜0.05).SAP in stroke patients was associated with age,atrial fibrillation,heart failure,aspiration,dysphagia,brain stem stroke,proton pump inhibitor use,fever,cough,dyspnea,low-density lipoprotein cholesterol,procalcitonin(PCT),C-reactive protein,white blood cell count,national institutes of health stroke scale(NIHSS)score,clinical pulmonary infection(CPIS)score(P＜0.05).Correlation analysis showed that serum sFlt-1 level was positively correlated with sCD14(r=0.439,P＜0.001),and serum sFlt-1 and sCD14 levels were positively correlated with NIHSS score and CPIS score(P＜0.05).Multivariate Logistic regression analysis showed that sFlt-1,sCD14,proton pump inhibitor use,PCT,dysphagia,and age were the influencing factors of SAP in stroke patients(P＜0.05).ROC curve results showed that the area under the curve of serum sFlt-1 and sCD14 combined to evaluate SAP in stroke patients was higher than that of single detection(ZsFlt-1-combined=2.194,P=0.028,ZscD14-combined=2.310,P=0.002).Conclusion The serum levels of sFlt-1 and sCD14 are in-creased in SAP patients,and the combination of the two has a good diagnostic value for predicting the occur-rence of SAP.

Objective:To explore the current situation and influencing factors of health literacy of postoperative lung cancer patients, so as to provide a basis for the development of relevant interventions.Methods:Using the convenient sampling method, a total of 200 postoperative lung cancer patients who came to Shanxi Provincial Cancer Hospital for follow-up from March to November 2023 were selected as the research objects. The survey was conducted using Health Literacy Management Scale (HeLMS), Family APGAR Index and Connor-Davidson Resilience Scale (CD-RISC). Multiple linear regression analysis was used to analyze the influencing factors.Results:In this study, a total of 200 questionnaires were sent out and 186 were valid, with an effective recovery rate of 93%. The total scores of HeLMS, CD-RISC and Family APGAR Index were (73.11±19.12), (48.46±10.72) and (5.07±2.82) in 186 postoperative lung cancer patients. Age, education level, complicity of other chronic diseases, psychological resilience and family care were the factors influencing health literacy of postoperative lung cancer patients ( P<0.05), which could explain 32.8% of the variation. Conclusions:Clinical medical staff should pay more attention to patients with postoperative lung cancer patients who are older, less educated and not complicated with other chronic diseases, and take certain intervention measures to improve the degree of family care and psychological resilience of patients, so as to improve the health literacy of patients.

Objective:To investigate the effect of Edaravone and dexborneol(Eda.B)on oxidative stress pathway in peripheral blood of elderly patients with acute ischemic stroke.Methods:A total of 87 elderly patients with acute ischemic stroke in the Department of Neurology, Qinghai University Affiliated Hospital from July 2021 to January 2022 were selected as the study subjects.According to the random number table, they were divided into control group(44 cases)and edaravone dexborneol group(43 cases). Each group was divided into <12 h group, 12-24 h group and 24-48 h group according to the time of onset.Peripheral blood was collected in each group at admission and discharge, respectively.The serum levels of reactive oxygen species(ROS), Kelch-like epichlorohydrin-associated protein 1(Keap1), nuclear factor-E2-associated factor 2(Nrf2), heme oxygenase-1(HO-1), NAD(P)H quinone oxidoreductase 1(NQO1), tumor necrosis factor-α(TNF-α)and interleukin-6(IL-6), as well as superoxide dismutase(SOD)activity and malondialdehyde(MDA)content were detected.Results:Elderly patients with acute ischemic stroke receving Eda.B treatment after admission could reduce the serum concentration of ROS, TNF-α and IL-6, as well as MDA content, and increase the concentration of Keap1, Nrf2, HO-1 and NQO1 and SOD activity.Except for ROS concentration in <12 h group and SOD activity in <12 h and 12 h-24 h groups, the differences between the other groups were statistically significant( P<0.05 for all). Compared with the control group, the serum concentration of TNF-α and IL-6 of patients in the Eda.B group at discharge decreased, while the concentration of Nrf2(24-48 h group)and HO-1(24-48 h group), and SOD activity increased, the differences were statistically significant( P<0.05 for all). In the control group at discharge, the concentrations of ROS(24-48 h group), TNF-α(<12 h group, 24-48 h group)and IL-6, as well as MDA content decreased, while the concentrations of Keap1, Nrf2(<12 h group, 12-24 h group)and HO-1(<12 h group, 12-24 h group)increased, the differences were also statistically significant( P<0.05 for all). Compared with admission, the concentration of Keap1(24-48 h group)and HO-1(24-48 h group), the activity of SOD(<12 h group, 12-24 h group)increased and the content of MDA(12-24 h group)in the Eda.B group decreased at discharge( P<0.05 for all). Conclusions:Eda.B can reduce oxidative stress and inflammatory response in peripheral blood of elderly patients with acute ischemic stroke by acting on the Keap1/Nrf2 pathway.

Objective:To develop general anesthesia health education measures based on intervention mapping and evaluate its application effect.Methods:Using the convenient sampling method, a total of 80 tumor patients who were scheduled to undergo surgical treatment in Shanxi Provincial Cancer Hospital from July to October 2022 were selected as the research objects. Patients from July to August 2022 were set as the control group, and patients from September to October 2022 were set as the observation group. Finally, 79 patients were included in the study, including 40 in the control group and 39 in the observation group. The control group received routine preoperative health education, and the observation group received general anesthesia health education based on intervention mapping. The Hospital Anxiety and Depression Scale (HADS) , General Anesthesia Related Knowledge Questionnaire, systolic blood pressure, diastolic blood pressure and heart rate were used to evaluate the effect of the intervention.Results:After intervention, HADS score, systolic blood pressure, diastolic blood pressure and heart rate in observation group were lower than those in control group, and the differences were statistically significant ( P<0.05) . The score of General Anesthesia Related Knowledge Questionnaire in observation group was higher than that in control group, and the difference was statistically significant ( P<0.05) . Conclusions:The general anesthesia nursing education based on the intervention mapping can improve the negative emotions of tumor patients and improve the general anesthesia-related knowledge of them.

Objective:To investigate the effects of different doses of dexmedetomidine (Dex) on heart rate variability (HRV) in patients with non-ST-segment elevation myocardial infarction (NSTEMI).Methods:The clinical data of 144 patients with NSTEMI from January 2017 to October 2020 in the 942 Hospital of Chinese PLA were analyzed retrospectively. Among them, 36 cases were treated with Dex 0.05 to 0.15 μg/(kg·h) (Dex1 group), 36 cases with Dex 0.20 to 0.40 μg/(kg·h) (Dex2 group), 36 cases with Dex 0.50 to 0.70 μg/(kg·h) (Dex3 group), and 36 cases without Dex (control group). The changes of HRV time domain indexes, frequency domain indexes and prognosis index before and after treatment were compared among 4 groups, the time domain indexes include normal R-R interval standard deviation (SDNN), mean value of adjacent normal R-R interval standard deviation (SDANNindex), root mean square of adjacent normal R-R interval standard deviation (SDNNindex), square root of adjacent normal R-R interval difference (rMSSD) and percentage of adjacent normal R-R interval difference>50 ms to R-R interval number (PNN50); the frequency domain indexes include total power (TP), low frequency power (LF), high frequency power (HF), ultra-low frequency power (VLF) and LF/HF; the prognostic indexes include ICU stay time, vasoactive drug use time, 28-day mortality and incidence of complication.Results:There was no significant difference in HRV indexes among 4 groups before treatment ( P>0.05); after treatment, except for LF/HF in Dex2 group and Dex3 group was significantly lower than that in control group and Dex1 group, other HRV indexes were significantly higher than those in control group and Dex1 group, and there were statistical differences ( P<0.05). There was no significant difference in 28-day mortality among 4 groups; the ICU stay time and vasoactive drug use time in Dex2 group were significantly shorter than those in control group, Dex1 group and Dex3 group: (7.14 ± 1.25) d vs. (9.08 ± 1.68), (9.53 ± 1.98) and (9.81 ± 1.95) d, (122.67 ± 29.5) h vs. (176.15 ± 23.26), (181.72 ± 23.40) and (180.42 ± 22.90) h, the incidence of complication was significantly lower than that in control group, Dex1 group and Dex3 group: 16.67% (6/36) vs. 72.22% (26/36), 47.22% (17/36) and 61.67% (22/36), and there were statistical differences ( P<0.05); there were no statistical difference in ICU stay time, vasoactive drug use time and incidence of complication among control group, Dex1 group and Dex3 group ( P>0.05). Conclusions:Dex 0.20 to 0.40 μg/(kg·h) is well tolerated, and has less adverse reactions. It can effectively increase HRV, regulate the balance of sympathetic-vagal nerve tension, stabilize cardiovascular response and improve prognosis in patients with NSTEMI.