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1.
Acta Anatomica Sinica ; (6): 10-16, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1015148

RESUMO

Objective To clarify the expression and distribution of brain⁃derived neurotrophic factor (BDNF) in the cerebrum of plateau yaks and cattle, and to explore the relationship between BDNF function and the adaptability of altitude hypoxia. Methods Five yaks and five cattles were selected.The content and distribution of BDNF in frontal lobe, temporal lobe, parietal lobe, occipital lobe, cerebrum white matter and hippocampus of yak and cattle were analyzed by Real⁃time PCR, Western blotting and Immunohistochemistry. Results Real⁃time PCR result showed that BDNF mRNA expression in the cerebrum of yaks and cattles was highest in temporal cortex, followed by hippocampus, parietal cortex, occipital cortex and frontal cortex, and lowest in white matter. Western blotting results showed that the content of BDNF protein in the cerebrum of yaks was the highest in temporal cortex,followed by hippocampus. The content of BDNF protein in other tissues was parietal cortex, frontal cortex and cerebrum white matter, and the content of BDNF protein was the lowest in occipital cortex. The content of BDNF protein intlecerebrum of cattles was the highest in the temporal cortex, followed by the hippocampus. The content of BDNF protein in other tissues was parietal cortex, occipital cortex and frontal cortex in descending order, and the protein content in cerebrum white matter was the lowest. Immunohistochemical results showed that the positive expression of BDNF protein in the cerebrum of yaks and cattles was basically similar, mainly distributed in the granulosa cells and glial cells in the frontal cortex, temporal cortex, parietal cortex and occipital cortex, glial cells in cerebrum white matter, pyramidal cell layer and polyform cell layer in the hippocampus. There was the small amount of distribution in Martinotti cells and the molecular layer of hippocampus in the cerebral cortex. Conclusion BDNF mRNA and protein are distributed and expressed in different brain regions of yaks and cattles, but the expression level different, which is speculated to be closely related to the specific functions of different cerebrum regions. The expression level of the cerebrum of yak is higher than that of cattle except occipital cortex, suggesting that it is related to the altitude hypoxic environment. BDNF may play an important role in enhancing hypoxic tolerance and protecting internal environmental homeostasis in the process of animal adaptation to hypoxic environment.

2.
International Journal of Stem Cells ; : 342-355, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1000521

RESUMO

Background and Objectives@#Osteoblasts are derived from bone marrow mesenchymal stem cells (BMMSCs) and playimportant role in bone remodeling. While our previous studies have investigated the cell subtypes and heterogeneity in osteoblasts and BMMSCs separately, cell-to-cell communications between osteoblasts and BMMSCs in vivo in humans have not been characterized. The aim of this study was to investigate the cellular communication between human primary osteoblasts and bone marrow mesenchymal stem cells. @*Methods@#and Results: To investigate the cell-to-cell communications between osteoblasts and BMMSCs and identifynew cell subtypes, we performed a systematic integration analysis with our single-cell RNA sequencing (scRNA-seq) transcriptomes data from BMMSCs and osteoblasts. We successfully identified a novel preosteoblasts subtype which highly expressed ATF3, CCL2, CXCL2 and IRF1. Biological functional annotations of the transcriptomes suggested that the novel preosteoblasts subtype may inhibit osteoblasts differentiation, maintain cells to a less differentiated status and recruit osteoclasts. Ligand-receptor interaction analysis showed strong interaction between mature osteoblasts and BMMSCs. Meanwhile, we found FZD1 was highly expressed in BMMSCs of osteogenic differentiation direction. WIF1 and SFRP4, which were highly expressed in mature osteoblasts were reported to inhibit osteogenic differentiation. We speculated that WIF1 and sFRP4 expressed in mature osteoblasts inhibited the binding of FZD1 to Wnt ligand in BMMSCs, thereby further inhibiting osteogenic differentiation of BMMSCs. @*Conclusions@#Our study provided a more systematic and comprehensive understanding of the heterogeneity of osteogenic cells. At the single cell level, this study provided insights into the cell-to-cell communications between BMMSCs and osteoblasts and mature osteoblasts may mediate negative feedback regulation of osteogenesis process.

3.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 85-92, 2023.
Artigo em Chinês | WPRIM | ID: wpr-961833

RESUMO

ObjectiveThe objective is to investigate the possibility of isocenter dual-guided resetting of surface guided radiation therapy (SGRT) combined with image guided radiation therapy (IGRT) in postoperative radiotherapy for breast cancer. To assess the setup error accuracy between the new resetting mode and the traditional resetting mode. MethodsRetrospective analysis was performed on breast cancer patients who underwent ELEKTA infinity accelerator radiotherapy in sun yat-sen university cancer center from July 13, 2021 to October 15, 2022. According to different reset methods, the patients were divided into a simulation group (41 cases) and a dual-guided group (40 cases). The simulation group was reset using a simulator, CBCT scans were performed and setup errors were recorded during the first treatment; The dual-guided group was guided by AlignRT and combined with CBCT for isocenter dual-guided resetting, and the setup error obtained by CBCT registration was recorded. The global setup errors of chest region of interest (CROI) , the local residual errors of supraclavicular region of interest (SROI) and the resetting time of the two reset methods were calculated and compared respectively. The advantages of the CBCT error distribution in the dual-guided resetting of SGRT combined with IGRT were analyzed. ResultsThe median of the global setup errors (X/cm, Y/cm, Z/cm, Rx°, Ry°, Rz°) of the simulation group and the median of the dual-guided group in the CROI were statistically significant (P<0.05) except the Rz and Ry directions. The local residual errors of the two groups of the SROI were calculated. The median of the errors of X/cm, Y/cm, Z/cm, Rx°, Ry°, Rz° were statistically significant (P<0.05) except the X and Y axis. The resetting time of the simulation group was significantly longer than that of the dual-guided group (238.64±28.56) s, t=-24.555, P=0.000, and the difference was statistically significant (P<0.05). The CBCT error distribution of the dual-guide group was analyzed, and it was found that the absolute values of translation errors of X, Y and Z axis were all within 0.4 cm, while the proportions of ≤ 0.3 cm were 95%, 93% and 93%, respectively. The proportions of rotation errors of Rx, Ry and Rz ≤ 1.5 ° were 90%, 93% and 90%, respectively. ConclusionIn postoperative radiotherapy of breast cancer, SGRT combined with IGRT for isocenter dual-guided resetting can effectively correct the rotational setup errors and residual errors, and improve the accuracy of radiotherapy with less resetting time and high feasibility, which compared with the traditional simulator resetting mode. This precise, unmarked resetting method can be widely used in clinical practice.

4.
China Journal of Orthopaedics and Traumatology ; (12): 189-193, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970845

RESUMO

Iliotibial band syndrome (ITBS), as an overused injury of the lower extremities, has developed into a common cause of lateral knee pain. At present, the treatment of ITBS includes drug therapy, muscle strength training, physical therapy, and surgical treatment. Among these methods, physical therapy, drug therapy, and surgical treatment can only alleviate the symptoms of patients. As a safe and effective treatment, lower limb muscle strength training can improve patients' muscle strength, correct abnormal gait, and reduce the recurrence rate of the disease by paying attention to the dynamic changes of patients' recovery process. At present, the pathogenesis of ITBS remains unclear, and the treatment methods are not unified. It is necessary to further study the biomechanical factors related to the lower extremities and develop more scientific and comprehensive muscle strength training methods.


Assuntos
Humanos , Treinamento Resistido , Corrida/fisiologia , Síndrome da Banda Iliotibial/diagnóstico , Extremidade Inferior , Modalidades de Fisioterapia/efeitos adversos , Articulação do Joelho , Força Muscular/fisiologia , Músculos/lesões , Fenômenos Biomecânicos
5.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 112-117, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970721

RESUMO

Objective: To investigate the effect of oxidative stress caused by heat exposure on the blood pressure increase of treadmill rats and the intervention of antioxidants. Methods: In June 2021, Twenty-four healthy SD male rats were randomly divided into four groups: normal temperature feeding, normal temperature treadmill, high temperature treadmill and high temperature treadmill supplementation with vitamin C groups, 6 rats in each group. The rats run on the platform in normal temperature or heat exposure environment for 30 min in the morning and in the afternoon daily, 6 days per week. The daily vitamin C supplement dose of high temperature treadmill supplementation with vitamin C group was 10 mg/kg. BP recordings were done at the end of the week. The rat vascular lipofuscin (LF) was detected by ELISA, the rat serum nitric oxide (NO) was detected by nitrate reductase method, the serum malondialdehyde (MDA) was detected by thibabituric acid method, the serum glutathione peroxidase (GPx) and superoxide dismutase (SOD) were detected by chemiluminescence method, and the serum catalase (CAT) was detected by ammonium molybdate method. The total antioxidant capacity (T-AOC) of serum was measured by iron reduction/antioxidant capacity method, and the content of nuclear erythroid 2-related factor 2 (Nrf2) in vascular tissue was measured by Western blot. The intra-group mean was compared by repeated measurement analysis of variance, and the inter-group mean was compared by single-factor analysis of variance and post-event LSD-t test. Results: Compared with the previous time point, the systolic BP and diastolic BP of the high temperature treadmill group were significantly increased at 7, 14 and 21 d, and decreased at 28 d which were higher than the initial level (P<0.05), and the systolic BP and diastolic BP values at each experimental time point were significantly higher than those of normal temperature treadmill group (P<0.001). The changes of thickening of the artery wall, no smoothing of the endodermis and irregular arrangement of muscle cells in high temperature treadmill group were observed. Compared with the normal temperature treadmill group, the content of MDA in serum, and LF in vascular tissue were significantly increased, the activities of SOD, CAT, T-AOC, the content of NO in serum, and the expression of Nrf2 in vascular tissue were significantly decreased in high temperature treadmill group (P<0.05). Compared with the high temperature treadmill group, the systolic BP and diastolic BP values at 7, 14, 21 and 28 d, the content of serum MDA and LF in vascular tissue were significantly decreased, the activities of CAT and T-AOC, and the expression of Nrf2 in vascular tissue significantly increased (P<0.05), the histopathological changes of the artery wall improved in high temperature treadmill supplementation with vitamin C group. Conclusion: Heat exposure has effect on oxidative stress, which may be related to the increase of BP. Vitamin C as an anti-oxidative enhancer can prevent those negative effects, which could alleviate the pathological changes of vessel intima in heat-exposed rats. And the Nrf2 may be a regulated factor to vascular protection.


Assuntos
Masculino , Animais , Ratos , Ácido Ascórbico , Antioxidantes/farmacologia , Pressão Sanguínea , Temperatura Alta , Fator 2 Relacionado a NF-E2 , Estresse Oxidativo , Febre
6.
Journal of Public Health and Preventive Medicine ; (6): 105-108, 2023.
Artigo em Chinês | WPRIM | ID: wpr-959059

RESUMO

Objective To understand the epidemiological characteristics and psychological factors of senile arrhythmia in Xining area, and provide theoretical basis for the prevention and treatment of senile arrhythmia. Methods A total of 518 elderly patients treated in the department of Cardiology in Xining area from June 2018 to June 2020 were selected and divided into control group (without arrhythmia) and study group (with arrhythmia) according to whether the patients were complicated with arrhythmia. All subjects underwent 24h electrocardiographic monitoring to record heart rate, heart rate lead electrocardiogram and 24h dynamic electrocardiogram examination. Refer to the patient's medical records for general information, including age, gender, coronary heart disease, hypertension, etc.; Psychological factors such as depression, anxiety, sleep and quality of life were analyzed. The correlation between PSQI score, HAMA-14 score, HAMD-17 score and arrhythmia was analyzed by Pearson correlation analysis. Results Among 518 patients, 305 (58.89%) were complicated with arrhythmia, including 155 males and 150 females, with an average age of 76.15±3.79. Atrial arrhythmia accounted for 38.36% (117/305), sinus tachycardia accounted for 28.52% (87/305). Ventricular arrhythmias accounted for 11.48% (35/305); The incidence of arrhythmia in 70-79 year olds was significantly higher than that in 60-69 year olds (χ2=8.358 , P2=6.801, P2=1.534, P>0.05). The incidence of arrhythmia was significantly higher in patients with hypertension and coronary heart disease (χ2=16.401, χ2=9.772 , P<0.05). There were significant differences in PSQI score, HAMA-14 score, HAMD-17 score between the two groups (P<0.05). Pearson correlation analysis showed that PSQI score, HAMD-14 score and HAMD-17 score were positively correlated with the occurrence of arrhythmia in the elderly population in Xining area, with correlation coefficients r=0.417 , 0.607 , 0.653 (P<0.05). Conclusion The incidence of arrhythmia increases in the elderly population in Xining area, mainly in the rural elderly population, which is associated with depression and anxiety and sleep disorders and other psychological factors. Early detection and early intervention can improve the response to treatment and accessibility.

7.
Acta Anatomica Sinica ; (6): 30-35, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1015257

RESUMO

Objective To explore the expression and distribution characteristics of vascular endothelial growth factor-B(VEGF-B) in diencephalon and brainstem of Yak’s brain tissues, and to investigate the associations between its expression and hypoxia adaptation. Methods Five healthy yaks were selected, and the brain tissues were divided and collected according to the gross anatomical structure of the brain, including pituitary, thalamus, hypothalamus, oblongata and pons. The characteristics of expression and location of VEGF-B in different regions of Yak’s brain tissues were detected by Real-time PCR, Western blotting and immunohistochemical techniques. Results The results showed that the highest expression level of VEGF-B mRNA of yak brain tissue was in the pituitary, and the content was significantly higher than that found in other parts of the brain(P<0. 05). Following the expressions were in the hypothalamus, thalamus and medulla oblongata, while the lowest expression level was in pons. The expression level of VEGF-B protein in Yak’s brain tissue was similar to the mRNA expression level except that the thalamus was higher than that of hypothalamus. The result of immunohistochemistry showed that VEGF-B protein-positive substances were mainly distributed in the cytoplasm of various types of cells. Among them, the positive staining of VEGF-B was mainly concentrated in eosinophils of pituitary. The positive staining of VEGF-B was mainly concentrated in pleomorphic cells of thalamus and hypothalamus. The distribution of VEGF-B protein-positive substances were mainly focused in nerve cell body of medulla oblongata and pons. Conclusion VEGF-B protein is expressed in both diencephalon and brainstem of yak, which may be closely related to its functions of anti-apoptosis, "survival factor" and angiogenesis. However, the specific mechanism of its neuroprotective effect on Yak brain under hypoxic environment needs to be further studied. The difference of expression in different regions may be related to the tissue specificity and function in different regions of the brain.

8.
Acta Anatomica Sinica ; (6): 188-194, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1015238

RESUMO

Objective Saiga antelope is a small population inhabiting in desert and semi desert areas of national and world endangered protected animals, its wild population is extremely rare. In order to explore the correlation between hypoxic tolerance and neuroglobin (NGB) in Saiga antelope. A female Saiga antelope died of dystocia was used as the experimental animal, and the tissue samples were sampled repeatedly for 3 times to study the distribution and expression of NGB in brain of Saiga antelope in the process of adapting to hypoxia. Methods The distribution and expression of NGB in the parietal lobe, frontal lobe, temporal lobe, occipital lobe, hypothalamus, hippocampus, pear like leaf, cingulate gyrus, striatum and thalamus of Saiga antelope were detected by immunohistochemistry(IHC) and Real-time PCR. Results The result of IHC showed that NGB was positive in all parts of Saiga antelope brain, and the cells that had positive reactions in the parietal, frontal, temporal and occipital lobes of the cerebral cortex were mostly granular cells and martinotti cells. NGB was found in the granular cell layer, pyramidal cell layer and molecular cell layer in hippocampus, and the positive staining of pyramidal cell layer was the strongest. NGB positive expression in Pear like leaves and hypothalamus mainly occured in multi-type cells. NGB was expressed in the granulocytes and glial cells of cingulate gyrus, mainly in the granular cells. The positive expression of NGB in striatum was mainly located in granular cells, the positive expression of NGB in thalamus could be seen in the polymorphosis and glial cells, and the positive substance of the multi-type cells was obviously colored. The result of Real-time PCR showed that NGB was expressed in different regions of Saiga antelope brain, the highest expression in the frontal lobe of the cerebral cortex, the second in the parietal lobe, and the expression was significantly higher than that in the rest of the brain tissue (P0.05). Conclusion The expression of NGB in different regions of Saiga antelope has some selective differences in the long-term adaptation to hypoxia environment. The frontal and parietal lobes have the highest tolerance to hypoxia, followed by hippocampus, and the striatum is the weakest, which may be related to the specific functions of different regions of brain tissue, but the specific mechanism remains to be further explored.

9.
Chinese Pharmacological Bulletin ; (12): 1584-1591, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1013732

RESUMO

Aim To investigate the effect of Sijunzi Decoction on mRNA and protein expression related to growth and cell cycle in polyamine/HuR signaling pathway during small intestinal epithelial cell (IEC-6) proliferation, and to explore its mechanism on intestinal mucosal injury repair. Methods Sijunzi Decoction-containing serum (SJZD) was prepared from SD rats, the expression of HuR protein in cytoplasm and nucleus was analyzed by immunofluorescence and Western blot, the mRNA level of activating transcription factor-2 (A T F - 2), JunD and cyclin dependent kinase 4 (CDK4) were determined by real-time fluorescent quantitative PCR (RT-PCR), Western blot was used to detect protein level of HuR, ATF-2, JunD and CDK4, and flow cytometry was applied to analyse cell cycle distribution. Results Compared with the control group, the mRNA and protein expression of ATF-2 and JunD decreased, while the expression of Cdk4 mRNA and protein increased in SZJD group, and the proportion of G

10.
Chinese Pharmacological Bulletin ; (12): 1662-1668, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1013702

RESUMO

Aim To investigate the effect of siRNA transfection of silencing Clkl gene on autophagy levels in AD model cells. Methods The Clkl gene was silted using siRNA transfection techniques. MTT was used to observe the effects of Aβ

11.
Journal of Sun Yat-sen University(Medical Sciences) ; (6): 497-503, 2023.
Artigo em Chinês | WPRIM | ID: wpr-973248

RESUMO

ObjectivesTo assess the correlation between blastocyst morphology score, serum human chorionic gonadotropin β subunit (β-hCG) levels on day 12 after transfer and live birth outcomes among cycles tested HCG-positive after thawed single blastocyst transfer; to analyze the predictive value of serum β-hCG levels on live birth. MethodsWe reviewed the data of 519 frozen-thawed single blastocyst transfer cycles (FET) that had been tested HCG-positive from January 2016 to May 2020 at our IVF center. These FET cycles were firstly divided into 4 groups (AA, AB, BA, and BB) according to Gardner's grading system of inner cell mass (ICM) and trophectoderm cell (TE), and then 4 groups (stages 3, 4, 5 and 6) according to the degree of blastocyst expansion. Serum β-hCG concentrations on day 12 after transfer and live birth rates were compared among groups transferred with different blastocysts grading and expansion stage. The relationship between Gardner’s grading or expansion stage of blastocysts and serum β-hCG levels was determined by correlation test, and ROC curves were plotted to determine the threshold values of serum β-hCG for predicting live birth. Results(1) The serum β-hCG concentration in the AA group and AB group on the 12th day after the transfer was significantly higher than that in the BB group (P <0.001, P <0.001). However, there was no significant difference in the live birth rate when different ICM/TE-graded blastocysts were transferred (P = 0.120). There were no significant differences in serum β-hCG concentration on day 12 after transfer and live birth rate among blastocysts with different expansion stages (P = 0.091, P = 0.557). (2) There was a significant weak correlation between blastocyst ICM/TE grading and serum β-hCG concentration on day 12 (rs = -0.221, P <0.001), and even after controlling for confounding factors ( rs = -0.228, P <0.001);There was no significant correlation between blastocyst’s expansion stage and serum β-hCG concentration on day 12 after the transfer (rs = -0.052, P = 0.240), and the association remained insignificant after controlling for confounding factors (rs = -0.029, P = 0.508). (3) ROC curve analysis showed that the cut-off value for predicting live birth by serum β-hCG on day 12 was 657.5 mU/mL (P < 0.001). ConclusionsNeither the ICM/TE grade nor the expansion stage of blastocysts affect the live birth rate,there is significant difference in the level of β-hCG produced by blastocyst with different ICM/TE grade;Our results suggest that early serum β-hCG level can predict live birth.

12.
Journal of Integrative Medicine ; (12): 89-98, 2023.
Artigo em Inglês | WPRIM | ID: wpr-971645

RESUMO

OBJECTIVE@#The study explores the effects of electroacupuncture (EA) at the governing vessel (GV) on proteomic changes in the hippocampus of rats with cognitive impairment.@*METHODS@#Healthy male rats were randomly divided into 3 groups: sham, model and EA. Cognitive impairment was induced by left middle cerebral artery occlusion in the model and EA groups. Rats in the EA group were treated with EA at Shenting (GV24) and Baihui (GV20) for 7 d. Neurological deficit was scored using the Longa scale, the learning and memory ability was detected using the Morris water maze (MWM) test, and the proteomic profiling in the hippocampus was analyzed using protein-labeling technology based on the isobaric tag for relative and absolute quantitation (iTRAQ). The Western blot (WB) analysis was used to detect the proteins and validate the results of iTRAQ.@*RESULTS@#Compared with the model group, the neurological deficit score was significantly reduced, and the escape latency in the MWM test was significantly shortened, while the number of platform crossings increased in the EA group. A total of 2872 proteins were identified by iTRAQ. Differentially expressed proteins (DEPs) were identified between different groups: 92 proteins were upregulated and 103 were downregulated in the model group compared with the sham group, while 142 proteins were upregulated and 126 were downregulated in the EA group compared with the model group. Most of the DEPs were involved in oxidative phosphorylation, glycolipid metabolism and synaptic transmission. Furthermore, we also verified 4 DEPs using WB technology. Although the WB results were not exactly the same as the iTRAQ results, the expression trends of the DEPs were consistent. The upregulation of heat-shock protein β1 (Hspb1) was the highest in the EA group compared to the model group.@*CONCLUSION@#EA can effect proteomic changes in the hippocampus of rats with cognitive impairment. Hspb1 may be involved in the molecular mechanism by which acupuncture improves cognitive impairment.


Assuntos
Ratos , Masculino , Animais , Ratos Sprague-Dawley , Eletroacupuntura , Proteômica , Disfunção Cognitiva/terapia , Hipocampo
13.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 117-125, 2023.
Artigo em Chinês | WPRIM | ID: wpr-971418

RESUMO

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was "SLC26A4 gene whole exons and splice sites" sequencing; the second step was "SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for "SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.


Assuntos
Feminino , Humanos , Masculino , Recém-Nascido , Alelos , Surdez/genética , Variações do Número de Cópias de DNA , Fatores de Transcrição Forkhead/genética , Genótipo , Perda Auditiva/genética , Perda Auditiva Neurossensorial/genética , Mutação , Fenótipo , Transportadores de Sulfato/genética , Aqueduto Vestibular , Canais de Potássio Corretores do Fluxo de Internalização/genética
14.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 42-46, 2023.
Artigo em Chinês | WPRIM | ID: wpr-971405

RESUMO

Objective: To clarify the long-term characteristics of tinnitus following treatment of sudden deafness and its long-term physical and mental effects on patients. Methods: A retrospective analysis was performed on 88 patients (46 males and 42 females; Age from 11 to 89 years) with sudden deafness treated in Department of Otoscope Surgery of Peoples's Libration Army General Hospital in Beijing from April 2020 to January 2021, and the occurrence of tinnitus and treatment effect of all patients were analyzed. Follow-up was conducted for patients with residual tinnitus after treatment for more than 1 year by the investigation and filling in the survey information collection form, Tinnitus Evaluation Questionnaire (TEQ) and Tinnitus Handicap Inventory (THI). Descriptive statistics and SPSS 22.0 software were used for statistical data analysis. Results: In this study, 93.2% (82/88) of patients with sudden deafness were accompanied by tinnitus at the onset, and the proportion of long-term tinnitus after treatment was 90.2% (74/82). After 1 year of treatment for sudden deafness, the improvement of tinnitus was significant in low-frequency sudden deafness compared with those of high-frequency, flat and total deafness sudden deafness (χ2 value was 6.801, 4.568 and 4.038, all P<0.05). In patients with residual tinnitus, 9 (12.2%) patients felt minimal loudness or even no loudness, 34 (46.0%) patients felt slight loudness, 28 (37.8%) patients felt tinnitus was relatively loud, and 3 (4.1%) patients felt tinnitus was loud or noisy. Nine (12.2%) patients's sleep was often affected, 41 (55.4%) patients's sleep was sometimes affected, 9 (12.2%) patients's sleep was rarely affected, 15 (20.3%) patients's sleep was almost not affected. Twenty-eight (37.8%) patients basically completely adapted to tinnitus and 46 (62.2%) patients did not completely adapted to residual tinnitus. Eight (10.8%) patients had no impact on life, 39 (52.7%) patients had slight impact, 22 (29.7%) patients had moderate impact, and the other 5 (6.8%) patients had greater impact. According to tinnitus evaluation questionnaire(TEQ), there were 12 cases (16.2%) of grade Ⅰ, 26 cases (35.1%) of grade Ⅱ, 28 cases (37.8%) of grade Ⅲ, 7 cases (9.5%) of grade Ⅳ and 1 case (1.4%) of grade Ⅴ. According to tinnitus handicap inventory(THI), tinnitus disability was classified into grade Ⅰ, 22 cases (29.7%), grade Ⅱ, 14 cases (18.9%), Grade Ⅲ, 27 cases (36.5%) and grade Ⅳ, 11 cases (14.9%). Conclusion: The rate of residual tinnitus following treatment of sudden deafness is high. Some of the patients can completely adapt residual tinnitus after one year, but some of them will be affected when sleep, work and study. Residual tinnitus can lead to tinnitus disability in different degrees.


Assuntos
Masculino , Feminino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Perda Auditiva Súbita/terapia , Zumbido/terapia , Estudos Retrospectivos , Surdez/complicações , Audiometria
15.
Acta Physiologica Sinica ; (6): 937-945, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1007802

RESUMO

The present study aims to establish comprehensive evaluation models of physical fitness of the elderly based on machine learning, and provide an important basis to monitor the elderly's physique. Through stratified sampling, the elderly aged 60 years and above were selected from 10 communities in Nanchang City. The physical fitness of the elderly was measured by the comprehensive physical assessment scale based on our previous study. Fuzzy neural network (FNN), support vector machine (SVM) and random forest (RF) models for comprehensive physical evaluation of the elderly people in communities were constructed respectively. The accuracy, sensitivity and specificity of the comprehensive physical fitness evaluation models constructed by FNN, SVM and RF were above 0.85, 0.75 and 0.89, respectively, with the FNN model possessing the best prediction performance. FNN, RF and SVM models are valuable in the comprehensive evaluation and prediction of physical fitness, which can be used as tools to carry out physical evaluation of the elderly.


Assuntos
Idoso , Humanos , Aptidão Física , Redes Neurais de Computação , Exercício Físico , Aprendizado de Máquina
16.
Chinese Journal of Preventive Medicine ; (12): 48-51, 2023.
Artigo em Chinês | WPRIM | ID: wpr-969842

RESUMO

In this study, Delphi method was used to conduct a questionnaire survey on 12 experts to determine the indicators system and the corresponding weight for early warning features of SARS-CoV-2 Omicron in Tianjin.The positive indexes of experts in three rounds of consultations were both 100%. The experts' authority coefficient was 0.79. The Kendall's W coordination coefficients were 0.375, 0.356 and 0.385 respectively (all P<0.05). The indicators system for early warning features of 2019-nCoV Omicron variant had 5 first-level indicators, 10 second-level indicators and 52 third-level indicators. The weight of each indicator was also determined.


Assuntos
Humanos , SARS-CoV-2 , Técnica Delphi , COVID-19 , Inquéritos e Questionários
17.
International Eye Science ; (12): 655-659, 2023.
Artigo em Chinês | WPRIM | ID: wpr-965795

RESUMO

AIM: To investigate the influence of the duration of orthokeratology lens cessation on patients' refractive status and corneal endothelial cells.METHODS: Adolescent myopia patients who wore orthokeratology lens from July 2019 to July 2020 and recently planned to stop wearing the lens were divided into mild group and severe group according to spherical equivalent. Refractive status, corneal morphology, corneal endothelial cells, and visual quality were measured at cessation and 1, 2 and 3mo after cessation.RESULTS: The corneal flat K values, steep K values and mean K values in the two groups were lower at cessation than those before wearing lenses. These values returned to the level before wearing lenses at 2mo after cessation(P&#x0026;#x003E;0.05). The corneal astigmatism, surface regularity index and surface asymmetry index in each group showed no statistically significant difference before wearing lenses and at 1, 2 and 3mo after cessation(P&#x0026;#x003E;0.05). There was no significant change in corneal endothelial cell density of the two groups at 1, 2 and 3mo after cessation compared with those before wearing lenses(P&#x0026;#x003E;0.05). The proportion of hexagonal cells in the two groups was lower at cessation than that before wearing lenses, and it returned to the level before wearing lenses at 1mo after cessation(P&#x0026;#x003E;0.05).CONCLUSION: Corneal morphology and corneal endothelial cells can be restored to the level before wearing orthokeratology lens at 3mo after cessation.

18.
Journal of Experimental Hematology ; (6): 462-468, 2023.
Artigo em Chinês | WPRIM | ID: wpr-982081

RESUMO

OBJECTIVE@#To investigate the efficacy and safety of matched sibling donor allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of young patients with multiple myeloma (MM).@*METHODS@#The clinical data of 8 young patients (median age:46 years) with MM who underwent allo-HSCT from HLA-indentical sibling donors in the First Affiliated Hospital of Chongqing Medical University from June 2013 to September 2021 were collected, and their survival and prognosis were retrospectively analyzed.@*RESULTS@#All the patients were successfully transplanted, and 7 patients could be evaluated the efficacy after transplantation. The median follow-up time was 35.2 (2.5-84.70) months. The complete response (CR) rate was 2/8 before transplantation and 6/7 after transplantation. Acute GVHD developed in 2 cases and extensive chronic GVHD developed in 1 case. Within 100 days, 1 case died of non-recurrent events, and 1-year and 2-year disease-free survival were 6 and 5 cases, respectively. At the end of follow-up, all the 5 patients who survived for more than 2 years survived, and the longest disease-free survival time has reached 84 months.@*CONCLUSION@#With the development of new drugs, HLA-matched sibling donor allo-HSCT may be a curable treatment for young patients with MM.


Assuntos
Humanos , Pessoa de Meia-Idade , Mieloma Múltiplo , Irmãos , Estudos Retrospectivos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Doença Enxerto-Hospedeiro
19.
Asian Journal of Andrology ; (6): 339-344, 2023.
Artigo em Inglês | WPRIM | ID: wpr-981949

RESUMO

The process of semen collection plays a key role in the quality of semen specimens. However, the association between semen collection time and semen quality is still unclear. In this study, ejaculates by masturbation from 746 subfertile men or healthy men who underwent semen analysis were examined. The median (interquartile range) semen collection time for all participants was 7.0 (5.0-11.0) min, and the median time taken for semen collection was lower in healthy men than that in subfertile men (6.0 min vs 7.0 min). An increase in the time required to produce semen samples was associated with poorer semen quality. Among those undergoing assisted reproductive technology (ART), the miscarriage rate was positively correlated with the semen collection time. After adjusting for confounders, the highest quartile (Q4) of collection time was negatively associated with semen volume and sperm concentration. A longer time to produce semen samples (Q3 and Q4) was negatively correlated with progressive and total sperm motility. In addition, there was a significant negative linear association between the semen collection time and the sperm morphology. Higher risks of asthenozoospermia (adjusted odds ratio [OR] = 2.06, 95% confidence interval [CI]: 1.31-3.25, P = 0.002) and teratozoospermia (adjusted OR = 1.98, 95% CI: 1.10-3.55, P = 0.02) were observed in Q3 than those in Q1. Our results indicate that a higher risk of abnormal semen parameter values was associated with an increase in time for semen collection, which may be related to male fertility through its association with semen quality.


Assuntos
Masculino , Humanos , Análise do Sêmen , Sêmen , Motilidade dos Espermatozoides , Contagem de Espermatozoides , Astenozoospermia , Espermatozoides
20.
China Journal of Chinese Materia Medica ; (24): 3308-3316, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981468

RESUMO

Based on the O-GlcNAc transferase(OGT)-PTEN-induced putative kinase 1(PINK1) pathway, the mechanism of 3,4-dihydroxybenzaldehyde(DBD) on mitochondrial quality control was investigated. Middle cerebral artery occlusion/reperfusion(MCAO/R) rats were established. SD rats were randomized into sham operation group(sham), model group(MCAO/R), DBD-L group(5 mg·kg~(-1)), and DBD-H group(10 mg·kg~(-1)). After 7 days of administration(ig), MCAO/R was induced in rats except the sham group with the suture method. Twenty-four h after reperfusion, the neurological function and the percentage of cerebral infarct area were measured. Based on hematoxylin and eosin(HE) staining and Nissl staining, the pathological damage of cerebral neurons was examined. Then the ultrastructure of mitochondria was observed under the electron microscope, and the co-localization of light chain-3(LC3), sequestosome-1(SQSTM1/P62), and Beclin1 was further detected by immunofluorescence staining. It has been reported that the quality of mitochondria can be ensured by inducing mitochondrial autophagy through the OGT-PINK1 pathway. Therefore, Western blot was employed to detect the expression of OGT, mitophagy-related proteins PINK1 and E3 ubiquitin ligase(Parkin), and mitochondrial kinetic proteins dynamin-like protein 1(Drp1) and optic atrophy 1(Opa1). The results showed that MCAO/R group had neurological dysfunction, large cerebral infarct area(P<0.01), damaged morphological structure of neurons, decreased number of Nissl bodies, mitochondrial swelling, disappearance of mitochondrial cristae, decrease of cells with LC3 and Beclin1, rise of cells with P62(P<0.01), inhibited expression of OGT, PINK1, and Parkin, up-regulated expression of Drp1, and down-regulated expression of Opa1 compared with the sham group(P<0.01). However, DBD improved the behavioral deficits and mitochondrial health of MCAO/R rats, as manifested by the improved morphology and structure of neurons and mitochondria and the increased Nissl bodies. Moreover, DBD increased cells with LC3 and Beclin1 and decreased cells with P62(P<0.01). In addition, DBD promoted the expression of OGT, PINK1, Parkin, and Opa1 and inhibited the expression of Drp1, enhancing mitophagy(P<0.05, P<0.01). In conclusion, DBD can trigger PINK1/Parkin-mediated brain mitophagy through the OGT-PINK1 pathway, which plays a positive role in maintaining the health of the mitochondrial network. This may be a mitochondrial therapeutic mechanism to promote nerve cell survival and improve cerebral ischemia/reperfusion injury.


Assuntos
Animais , Ratos , Ratos Sprague-Dawley , Proteína Beclina-1 , Mitocôndrias , Infarto Cerebral , Proteínas Quinases
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