Objective To explore the clinical application of ultrasound-guided transabdominal villus and amniocentesis in the prenatal diagnosis of thalassemia,and to find a suitable method for the prenatal diagnosis of thalassemia in Qinzhou.Methods A total of 531 high-risk pregnant women with severe or intermediate thalassemia during single pregnancy who were treated in the Department of Medical Genetics and Prenatal Diagnosis,Qinzhou Maternal and Child Health Hospital from March 2021 to April 2022 were selected for the study.According to different sampling methods,they were divided into control group(amniocentesis,n=415)and study group(transabdominal villus puncture,n=116).The success rate,complication rate of the two groups were compared.Results The success rate of puncture in the control group was 100％,2 cases were aborted within 2 weeks after surgery,17 cases were diagnosed with severe alpha-thalassemia,10 cases with severe β-thalassemia and 64 cases with intermediate thalassemia,48 cases with moderate and severe thalassemia induced labor.The success rate of puncture in the research group was 100％,10 cases were diagnosed with severe alpha-thalassemia,4 cases with severe β-thalassemia and 17 cases with intermediate thalassemia,and 26 cases with moderate severe thalassemia were induced labor.There was no significant difference in puncture success rate and abortion rate between the two methods(P>0.05).Conclusion Both methods are safe and effective.Transabdominal villus sampling can detect fetal thalassemia in early pregnancy,and it is worth promoting and applying in clinical practice.

【Objective】 To investigate the expression of optineurin (OPTN) in multiple myeloma (MM) and explore the mechanism and clinical value of OPTN gene in the occurrence and development of MM. 【Methods】 In this study, three gene expression omnibus (GEO) data sets were used to analyze the expression level of OPTN in MM. Clinical bone marrow samples of MM patients were collected. qRT-PCR was used to further verify the expression of OPTN in MM patients. The Kaplan-Meier survival curve and receiver operating characteristic (ROC) curve were used to analyze the value of OPTN in the prognosis and diagnosis of MM. At the same time, MM transcriptome data were downloaded from the Cancer Genome Atlas (TCGA) database. According to the median boundary of OPTN mRNA expression level, the MM patients were divided into OPTN high- and low-expression groups. In order to investigate the possible molecular mechanisms of OPTN in MM, gene set enrichment analysis (GSEA) was made after the differentially expressed genes were filtered using the limma package of the R language. 【Results】 The expression level of OPTN was significantly lower in MM tissues than in normal tissues (P<0.05). OPTN expression level was significantly correlated with International Staging System (ISS) in MM patients (P<0.05). ROC results showed that the expression level of OPTN could distinguish between normal and MM patients. Survival analysis showed that the overall survival (OS) of patients with low OPTN expression was significantly lower than that of patients with high OPTN expression (P<0.05). GO, KEGG and GSEA enrichment analyses indicated that OPTN might affect apoptosis and autophagy, and regulate cellular immune response by regulating Nod-like receptors, NF-κB, TNF and RAS/MAPK pathways. 【Conclusion】 Low expression of OPTN in MM is associated with poor prognosis of patients, and thus may be an important potential biomarker for the diagnosis and treatment of MM.

ObjectiveTo observe the effect of deep muscle stimulation on muscle structure and function in children with spastic cerebral palsy. MethodsFrom January, 2023 to March, 2024, 30 children with spastic cerebral palsy in Beijing Bo'ai Hospital were randomly divided into control group (n = 15) and intervention group (n = 15). Both groups received conventional rehabilitation therapy, while the intervention group added deep muscle stimulation, for four weeks. Before and after training, the gastrocnemius muscle was examined by ultrasound diagnosis system in two aspects: transverse incision and longitudinal incision. Indicators included fascicle length, muscular thickness, cross sectional area and pennation angle. The modified Ashworth Scale (MAS) was used to assess the muscle tension of the lower extremity of the affected side. The standing, walking, running and jumping function were evaluated by Gross Motor Function Measure (GMFM) D and E areas. ResultsAfter training, the fascicule length and pennation angle improved significantly in both groups (|t| > 6.329, P < 0.001), and they were better in the intervention group than in the control group (|t| > 2.347, P < 0.05); the scores of MAS decreased in both groups (t > 2.432, P < 0.05), and were better in the intervention group than in the control group (t = 2.140, P < 0.05); the scores of GMFM D and E areas significantly decreased in both groups (|t| > 8.473, P < 0.001), and were better in the intervention group than in the control group (|t| > 2.191, P < 0.05). ConclusionDeep muscle stimulation could improve the fascicule length and pennation angle, and improve the spasticity and motor function of lower extremities in children with spastic cerebral palsy.

Objective:To investigate the clinicopathological characteristics of rashes in monkeypox patients through a series of skin biopsies, and examine their pathological features and the most effective tests.Methods:Patients with monkeypox virus infection admitted to Beijing Ditan Hospital from June to August 2023 were identified. Among them, 24 patients underwent skin biopsies for clinical pathological study that were included in this study. Clinical information, rash pictures, and nucleic acid test results were analyzed using histopathology, immunohistochemistry, RNAscope ? hybridization and electron microscopy. Results:All 24 patients were male, including 14 patients with concurrent human immunodeficiency virus infection. Their average age was (32.3±5.4) years. The nucleic acid test confirmed monkeypox virus infection. The clinical feature of monkeypox rashes was solitary rather than clustered distribution, with rashes occurring in similar phase, distinguishing it from herpesvirus. The rashes in these patients were mostly scattered, with an average of (13.0±11.8) rashes, and most commonly present in the perineum, face, limbs, and trunk. The three main pathological features of these rashes were ballooning degeneration of the epidermal spinous cell layer, the characteristic intra-cytoplasmic Guarnieri′s bodies and significant infiltration of inflammatory cells in whole dermal layer. Immunohistochemistry, RNAscope ? hybridization, and electron microscopy can all effectively detect the monkeypox virus. Electron microscopy showed viral replication in various types of skin cells. Conclusions:The study describes the pathological features of monkeypox virus rashes. Pathological examination of skin biopsy samples is helpful to diagnose these rashes. The study suggests that the monkeypox virus has a unique epitheliotropic affinity and can infect various types of cells in the skin.

OBJECTIVE Exploring the TNC gene mutations in a family with hereditary hearing loss and their relationship with clinical phenotypes.METHODS Draw the family pedigree chart,analyze the inheritance pattern,and assess the clinical phenotypes of family members using audiologic,imaging,and vestibular function tests.Perform whole exome sequencing on six members of the family to identify candidate mutations potentially related to hearing loss,and validate the distribution of these candidate mutations within the family and in normal controls using Sanger sequencing.RESULTS A heterozygous mutation c.5110G>T(p.Ala1704Ser)in exon 17 of the TNC gene on chromosome 9 was identified in the family.This mutation is associated with hereditary hearing loss.Carriers of this gene mutation all presented with normal hearing at birth and hearing decline during childhood;imaging examinations showed no abnormalities in the middle ear or inner ear structures.CONCLUSION This study reports for the first time the association between the heterozygous mutation c.5110G>T(p.Ala1704Ser)in the TNC gene and hereditary hearing loss,providing new evidence for molecular diagnosis and genetic counseling in cases of hereditary hearing loss.

Objective:The purpose of this study was to examine the clinical features and initial treatment outcomes of elderly individuals with idiopathic membranous nephropathy.Methods:This study retrospectively analyzed the clinical characteristics and therapeutic effect of hospitalized patients aged 60 years or older with renal-biopsy-proven idiopathic membranous nephropathy for at least one year.Results:This study enrolled a total of 91 elderly patients with IMN, consisting of 51 males(56.0%)and 40 females(44.0%). The median age of the patients was 67 years.The urinary protein creatinine ratio(uPCR)and urinary albumin creatinine ratio(uACR)of the patients were 4 454.3 mg/g and 2 258.5 mg/g, respectively.The median 24-hour urinary protein and urinary albumin levels were 5 098.2 mg/24 h and 2 800.6 mg/24 h, respectively.The average estimated glomerular filtration rate(eGFR)was(60.5±20.4)ml·min -1·1.73 m -2.Out of the total of 61 patients, 67.0% achieved remission, including complete and partial remission, within a year of renal biopsy.The levels of uPCR and uACR were significantly higher in the non-remission group compared to the remission group(5 462.5 vs.2 271.1 mg/g, P<0.001; 2 774.4 vs.1 320.0 mg/g, P=0.001). Additionally, the levels of 24h urinary protein and urinary albumin were significantly higher in the non-remission group compared to the remission group(6 526.4 vs.3 210.4 mg/g, P=0.002; 3 067.7 vs.2 102.4 mg/g, P=0.007). The remission group had a higher proportion of patients receiving immunosuppressive therapy(85.2% vs.33.3%, P<0.001). The remission rates were higher in patients treated with glucocorticoid combined with cyclophosphamide, glucocorticoid combined with calcineurin inhibitors, or glucocorticoid combined with mycophenolate mofetil compared to those receiving conservative treatment(88.2% vs.31.0%, P=0.001; 80.0% vs.31.0%, P<0.001; 100.0% vs.31.0%, P=0.007). There was no significant difference in remission rate between the three immunosuppressive therapy groups( P>0.05). However, upon further analysis, it was found that the levels of uPCR, uACR, and serum cystatin C(CysC)were higher in the immunosuppressive therapy groups compared to conservative treatment.Additionally, serum total protein and albumin were lower in the immunosuppressive therapy groups, and these differences were statistically significant( P<0.05). Conclusions:The majority of elderly patients diagnosed with IMN have multiple comorbidities.For those at high risk with elevated urinary protein levels, early initiation of immunosuppressive therapy may lead to a higher initial urinary protein remission rate.Therefore, it is advisable to develop individualized treatment plans for elderly patients with IMN based on their clinical characteristics, as well as the risks and benefits associated with immunosuppressive therapy.

Objective:To investigate the value of chain management of perioperative pressure injury in patients undergoing supine craniocerebral injury, so as to provide reference for the prevention of pressure injury and the application of chain management.Methods:In this retrospective study, a total of 116 patients with craniocerebral injury who underwent supine surgery in Shanxi Cardiovascular Hospital from December 2019 to December 2020 were included in the control group, using traditional perioperative pressure injury management protocol. And 124 patients admitted from January 2021 to December 2021 were included in the observation group, and were managed by the pressure injury chain management scheme. The risk assessment/judgment rate of pressure ulcers, the risk assessment/judgment accuracy rate of pressure ulcers, the implementation rate of intervention measures, the qualified rate of intervention records and the reported rate of high-risk patients with pressure ulcers in the two groups were analyzed. The occurrence of stress injury and medical expenses of the two groups of patients were investigated.Results:The risk assessment/judgment rate of pressure ulcers, the risk assessment/judgment accuracy rate of pressure ulcers, the implementation rate of intervention measures, the qualified rate of intervention records and the reported rate of high-risk patients with pressure ulcers were 100.00%(124/124), 96.77%(120/124), 92.74%(115/124), 93.55%(116/124), 100.00%(29/29) in the observation group, which were 77.59%(90/116), 72.41%(84/116), 68.97%(80/116), 68.97%(80/116), 83.33%(30/36) in the control group, the difference was statistically significant ( χ2 values were 22.24-31.17, all P<0.05). The overall incidence of stress injury in the observation group and the control group was 15.52%(18/116) and 3.23%(4/124), respectively, and the difference between the two groups was statistically significant ( χ2=10.88, P<0.05). There was no significant difference in the total hospitalization cost between the two groups ( P>0.05). The cost of stress-related consumables was (144.94 ± 47.28) yuan in the observation group and (194.21 ± 55.76) yuan in the control group, and the difference was statistically significant ( t=7.40, P<0.05). Conclusions:Perioperative stress injury chain management can reduce the incidence of pressure injury in patients with craniocerebral injury, improve service quality, and reduce medical costs, with good clinical application value.

Objective:To translate the University of Rhode Island Change Assessment of voice scale（URICA-Voice） into Chinese and test its reliability and validity. Methods:The URICA-Voice scale was converted into Chinese by literal translation, cultural adjustment, expert consultation, pre-investigation, and back translation. Convenience sampling was used to recruit patients at four speech therapy centers from February to May 2022. Then the Chinese version of the scale was distributed to them, and the reliability and validity of the scale were tested after data collection. Cronbach ɑ was used to evaluate the reliability. The critical ratio method and Pearson correlation coefficient were used for item analysis. Item-level content validity, scale-level content validity, and confirmatory factor analysis were used to test the validity of the scale. Results:A total of 247 valid questionnaires were collected. ①Item analysis: the critical ratios between a high-score and low-score groups of 32 items were all statistically significant（P<0.01） and all the critical ratios were above 3.00. The Pearson correlation between 32 items and the total score was significant（P<0.01）. ②Validity analysis: I-CVI=1.00, S-CVI/Ave=1.00, χ²/df=2.30, RMSEA=0.07. Except for item 9 and 23, the standardized factor loading coefficients of other items were all above 0.50. AVE of the four dimensions of the scale was all above 0.50, and the combined reliability of the four dimensions was all above 0.70. The correlation coefficients between dimensions were less than the square root of the AVE of the dimension itself. ③Reliability analysis: the Cronbach ɑ of the whole scale was 0.94, and the Cronbach ɑ of the four dimensions were 0.88, 0.92, 0.94, and 0.88 respectively. Conclusion:The Chinese version of URICA-Voice has good reliability and validity, and can be used as a specific measurement tool for evaluating the compliance of voice training in China.
Humans ; China ; Language ; Reproducibility of Results ; Surveys and Questionnaires ; Voice

ObjectiveTo investigate the short-term efficacy of orthopedic elastic bandages on gait symmetry and walking ability in children with spastic hemiplegic cerebral palsy. MethodsFrom June, 2020 to June, 2023, 31 children with spastic hemiplegic cerebral palsy from Beijing Bo'ai Hospital were randomly divided into control group (n = 15) and experimental group (n = 16). Both groups received routine rehabilitation, while the control group received routine walking training, and the experimental group wore an orthopedic elastic bandage for walking training, for four weeks. The indexes of gait symmetry of foot deviation angle ratio (affected/healthy), step length ratio (affected/healthy), gait line ratio (affected/healthy) and standing stage ratio (affected percentage/healthy percentage) were calculated before and after training, and they were measured step width and the optional and maximum walking speed of 10-meter walk test (10MWT). ResultsOne case dropped off in the experimental group. After training, the foot deviation ratio, step length ratio, gait line ratio, and standing stage ratio improved in both groups (|t| > 2.434, P < 0.05), and they were better in the experimental group than in the control group (|t| > 2.230, P < 0.05); while the optional and maximum walking speed of 10MWT improved in both groups (|t| > 9.186, P < 0.001), and they were better in the experimental group than in the control group (|t| > 2.278, P < 0.05). ConclusionWearing orthopedic elastic bandages during rehabilitation can promote the gait symmetry and walking ability of children with spastic hemiplegic cerebral palsy.