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2.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(12): 1921-1927, 2023 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-38129149

RESUMO

Objective: To analyze the epidemiological patterns of comorbidity of anxiety symptoms and depression symptoms among middle and high school students in Zhejiang Province and to provide evidence for making strategy and evaluation of intervention. Methods: Through a multi-stage sampling design, 28 043 students from 376 schools in 30 counties/districts were recruited and surveyed using anonymous self-administered questionnaires in classrooms under the supervision of trained staff between April and June 2022. Anxiety symptoms were assessed using generalized Anxiety Disorders 7-Item Scale, and depression symptoms were assessed using Patient Health Questionnaire 9-Item Depression Scale. A total of 27 004 students were included in the final analysis. Results: The overall prevalence of comorbidity of anxiety symptoms and depression symptoms was 11.54% (95%CI: 10.90%-12.19%), higher among girls (15.42%, 95%CI: 14.47%- 16.38%) than boys (8.05%, 95%CI: 7.43%-8.67%) (P<0.001), higher among students living in rural areas (12.35%, 95%CI: 11.49%-13.22%) than those in urban areas (10.06%, 95%CI: 9.27%-10.86%) (P<0.001). The prevalence of comorbidity of students attending middle school, academic high school, and vocational high school was 11.73% (95%CI: 10.82%-12.64%), 12.49% (95%CI: 11.20%- 13.79%), and 9.98% (95%CI: 8.68%-11.27%), respectively (P=0.025). The prevalence of comorbidity was higher among students in divorced/widow/separated families (16.64%, 95%CI: 14.86%-18.43%) than those in intact families (10.82%, 95%CI: 10.14%-11.50%) (P<0.001). The wealthier the families, the lower the prevalence of comorbidity (P<0.001). The prevalence of comorbidity was higher among cigarettes smokers in the past 30 days (21.70%,95%CI: 18.24%- 25.16%) than non-smokers (11.13%, 95%CI: 10.51%-11.76%), higher among alcohol drinkers in the past 30 days (19.36%, 95%CI: 17.58%-21.14%) than non-drinkers (10.05%, 95%CI: 9.43%- 10.68%), higher among students engaging in physical fight in the past 12 months (18.42%, 95%CI: 16.75%-20.09%) than those without physical fight (10.45%, 95%CI: 9.81%-11.10%). The more frequently students engaged in physical exercise, the lower the prevalence of comorbidity (P<0.001). The poorer the academic performance self-reported, the higher the prevalence of comorbidity (P<0.001). Conclusion: More than one-tenth of middle and high school students in Zhejiang Province have comorbidity of anxiety symptoms and depression symptoms, and more attention should be paid to adolescent mental health.


Assuntos
Ansiedade , Depressão , Masculino , Adolescente , Feminino , Humanos , Depressão/epidemiologia , Ansiedade/epidemiologia , Estudantes , Comorbidade , Inquéritos e Questionários , Prevalência , China/epidemiologia
3.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(10): 1616-1621, 2023 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-37875450

RESUMO

Objective: To explore the spatial autocorrelation and macro influencing factors of stroke mortality in Zhejiang Province in 2015-2020 and provide a scientific basis for stroke prevention and control strategy. Methods: The data on stroke death were obtained from Zhejiang Chronic Disease Surveillance System. The spatial distribution of stroke mortality was explored by mapping and spatial autocorrelation analysis. The spatial panel model analyzed the correlation between stroke mortality and socioeconomic and healthcare factors. Results: From 2015 to 2020, the average stroke mortality was 68.38/100 thousand. The standard mortality of stroke was high in the areas of east and low in the west, high in the south and low in the north. Moreover, positive spatial autocorrelation was observed (Moran's I=0.274-0.390, P<0.001). Standard mortality of stroke was negatively associated with per capita gross domestic product (GDP) (ß=-0.370, P<0.001), per capita health expenditure (ß=-0.116, P=0.021), number of beds per thousand population (ß=-0.161, P=0.030). Standard mortality of ischemic stroke was negatively associated with per capita GDP (ß=-0.310, P=0.002) and standard management rate of hypertension (ß=-0.462, P=0.011). Standard mortality of hemorrhagic stroke was negatively associated with per capita GDP (ß=-0.481, P<0.001), per capita health expenditure (ß=-0.184, P=0.001), number of beds per thousand population (ß=-0.288, P=0.001) and standard management rate of hypertension (ß=-0.336, P=0.029). Conclusions: A positive spatial correlation existed between stroke mortality in Zhejiang Province in 2015-2020. We must focus more on preventing and controlling strokes in relatively backward economic areas. Moreover, to reduce the mortality of stroke, increasing the investment of government medical and health funds, optimizing the allocation of medical resources, and improving the standard management rate of hypertension are important measures.


Assuntos
Hipertensão , Acidente Vascular Cerebral , Humanos , Análise Espacial , Produto Interno Bruto , Gastos em Saúde , China/epidemiologia
4.
Artigo em Chinês | MEDLINE | ID: mdl-37339893

RESUMO

Objective: To explore the diagnosis, surgical management and outcome of jugular foramen chondrosarcoma (CSA). Methods: Fifteen patients with jugular foramen CSA hospitalized in the Department of Otorhinolaryngology Head and Neck Surgery of Chinese PLA General Hospital from December 2002 to February 2020 were retrospectively collected,of whom 2 were male and 13 were female, aging from 22 to 61 years old. The clinical symptoms and signs, imaging features, differential diagnosis, surgical approaches, function of facial nerve and cranial nerves IX to XII, and surgical outcomes were analyzed. Results: Patients with jugular foramen CSA mainly presented with facial paralysis, hearing loss, hoarseness, cough, tinnitus and local mass. Computed tomography (CT) and magnetic resonance (MR) could provide important information for diagnosis. CT showed irregular destruction on bone margin of the jugular foramen. MR demonstrated iso or hypointense on T1WI, hyperintense on T2WI and heterogeneous contrast-enhancement. Surgical approaches were chosen upon the sizes and scopes of the tumors. Inferior temporal fossa A approach was adopted in 12 cases, inferior temporal fossa B approach in 2 cases and mastoid combined parotid approach in 1 case. Five patients with facial nerve involved received great auricular nerve graft. The House Brackmann (H-B) grading scale was used to evaluate the facial nerve function. Preoperative facial nerve function ranked grade Ⅴ in 4 cases and grade Ⅵ in 1 case. Postoperative facial nerve function improved to grade Ⅲ in 2 cases and grade Ⅵ in 3 cases. Five patients presented with cranial nerves Ⅸ and Ⅹ palsies. Hoarseness and cough of 2 cases improved after operation, while the other 3 cases did not. All the patients were diagnosed CSA by histopathology and immunohistochemistry, with immunohistochemical staining showing vimentin and S-100 positive, but cytokeratin negative in tumor cells. All patients survived during 28 to 234 months' follow-up. Two patients suffered from tumor recurrence 7 years after surgery and received revision surgery. No complications such as cerebrospinal fluid leakage and intracranial infection occurred after operation. Conclusions: Jugular foramen CSA lacks characteristic symptoms or signs. Imaging is helpful to differential diagnosis. Surgery is the primary treatment of jugular foramen CSA. Patients with facial paralysis should receive surgery in time as to restore the facial nerve. Long-term follow-up is necessary after surgery in case of recurrence.


Assuntos
Condrossarcoma , Paralisia Facial , Forâmen Jugular , Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Paralisia Facial/etiologia , Diagnóstico Diferencial , Estudos Retrospectivos , Tosse , Rouquidão , Recidiva Local de Neoplasia , Condrossarcoma/cirurgia
5.
Artigo em Chinês | MEDLINE | ID: mdl-37114731

RESUMO

Objective: To analyze the phenotypic-genotypic characteristics of hereditary deafness caused by OTOA gene variations. Methods: Family histories, clinical phenotypes and gene variations of six pedigrees were analyzed, which were diagnosed with hearing loss caused by OTOA gene variations at the PLA General Hospital from September 2015 to January 2022. The sequence variations were verified by Sanger sequencing and the copy number variations were validated by multiplex ligation-dependent probe amplification (MLPA) in the family members. Results: The hearing loss phenotype caused by OTOA variations ranged from mild to moderate in the low frequencies, and from moderate to severe in the high frequencies in the probands, which came from six sporadic pedigrees, among which a proband was diagnosed as congenital deafness and five were diagnosed as postlingual deafness. One proband carried homozygous variations and five probands carried compound heterozygous variations in OTOA gene. Nine pathogenic variations (six copy number variations, two deletion variations and one missense variation) and two variations with uncertain significance in OTOA were identified in total, including six copy number variations and five single nucleotide variants, and three of the five single nucleotide variants were firstly reported [c.1265G>T(p.Gly422Val),c.1534delG(p.Ala513Leufs*11) and c.3292C>T(p.Gln1098fs*)]. Conclusions: OTOA gene variations can lead to autosomal recessive nonsyndromic hearing loss. In this study, the hearing loss caused by OTOA defects mostly presents as bilateral, symmetrical, and postlingual, and that of a few presents as congenital. The pathogenic variations of OTOA gene are mainly copy number variations followed by deletion variations and missense variations.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Humanos , Variações do Número de Cópias de DNA , Perda Auditiva Neurossensorial/genética , Surdez/genética , Perda Auditiva/genética , Fenótipo , Genótipo , Nucleotídeos , Linhagem , Mutação , Proteínas Ligadas por GPI/genética
6.
J Endocrinol Invest ; 46(8): 1491-1507, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36917421

RESUMO

PURPOSE: The coronavirus 2019 (COVID-19) pandemic-caused by a new type of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-has posed severe impacts on public health worldwide and has resulted in a total of > 6 million deaths. Notably, male patients developed more complications and had mortality rates ~ 77% higher than those of female patients. The extensive expression of the SARS-CoV-2 receptor and related proteins in the male reproductive tract and the association of serum testosterone levels with viral entry and infection have brought attention to COVID-19's effects on male fertility. METHODS: The peer-reviewed articles and reviews were obtained by searching for the keywords SARS-CoV-2, COVID-19, endocrine, spermatogenesis, epididymis, prostate, and vaccine in the databases of PubMed, Web of Science and Google Scholar from 2020-2022. RESULTS: This review summarizes the effects of COVID-19 on the male reproductive system and investigates the impact of various types of SARS-CoV-2 vaccines on male reproductive health. We also present the underlying mechanisms by which SARS-CoV-2 affects male reproduction and discuss the potentially harmful effects of asymptomatic infections, as well as the long-term impact of COVID-19 on male reproductive health. CONCLUSION: COVID-19 disrupted the HPG axis, which had negative impacts on spermatogenesis and the epididymis, albeit further investigations need to be performed. The development of vaccines against various SARS-CoV-2 variations is important to lower infection rates and long-term COVID risks.


Assuntos
COVID-19 , Infertilidade Masculina , Humanos , Masculino , Feminino , SARS-CoV-2 , Vacinas contra COVID-19 , Infertilidade Masculina/etiologia , Espermatogênese
7.
Zhonghua Yi Xue Za Zhi ; 103(6): 436-441, 2023 Feb 14.
Artigo em Chinês | MEDLINE | ID: mdl-36775268

RESUMO

Objective: To estimate the prevalence of visual disability, hearing disability and comorbidity of visual and hearing disability among the elderly in China, and explore the related factors of comorbidity of visual and hearing disability in the elderly. Methods: This was a cross-sectional study. Based on the Second China National Sample Survey on Disability in 2006, the data of the elderly with visual and hearing disability were extracted and combined for descriptive analysis. Meanwhile, multivariate logistic regression model was used to analyze the related factors of comorbidity of visual and hearing disability among the elderly. Results: A total of 250 752 cases were in the final analysis (119 120 males and 131 632 females), and there were 164 003, 74 156 and 12 593 cases with the age of 65-<75, 75-<85 and ≥ 85 years, respectively. The prevalence of visual disability and hearing disability of the elderly in China was 8.10% (95%CI: 8.00%-8.21%), 13.41% (95%CI: 13.29%-13.54%), respectively, while the prevalence of comorbidity of visual and hearing disability was 1.97% (95%CI: 1.92%-2.02%). The severity of disability of the elderly with comorbidity of visual and hearing disability was higher, and the percentage of mild disabilities (18.31%, 966/5 277) was lower than those with visual (53.06%, 11 208/21 123) or hearing disabilities (32.96%, 11 536/34 995). Moreover, 19.40% (1 024/5 277) of visual or hearing disability occurred in the same year. Multivariate logistic regression analysis showed that education level below primary school (OR=0.65, 95%CI: 0.61-0.70, P<0.001), having a spouse (OR=0.68, 95%CI: 0.64-0.72, P<0.001), living in an urban area (OR=0.77, 95%CI: 0.71-0.82, P<0.001) and having a per capita household income higher than the national average (OR=0.73, 95%CI: 0.68-0.78, P<0.001) were protective factors for comorbidity of visual and hearing disability among the elderly. Conclusions: Visual disability is correlated with hearing disability in the elderly. Attention should be paid to the prevention and control of associated disabilities such as visual and hearing co-disabilities in the elderly population, with emphasis on strengthening publicity and education on prevention and control of visual and hearing disabilities for the elderly who are economically disadvantaged, have no spouse and live in remote areas.


Assuntos
Pessoas com Deficiência , Masculino , Feminino , Humanos , Idoso , Idoso de 80 Anos ou mais , Prevalência , Estudos Transversais , China/epidemiologia , Comorbidade , Audição
8.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(11): 1543-1548, 2022 Nov 06.
Artigo em Chinês | MEDLINE | ID: mdl-36372741

RESUMO

Objective: To evaluate the recognition of acute respiratory infection (ARI) by a pretrained model based on electronic medical records (EMRs). Methods: 38 581 EMRs were obtained from Chongqing University Three Gorges Hospital in December 2021. Bidirectional encoder representation from transformers (BERT) pretrained model was used to identify ARI in EMRs. The results of medical professionals were considered as the gold standard to calculate the sensitivity, specificity, Kappa value, and area under the curve of the receiver operating characteristic (AUC). Results: There were 3 817 EMRs in the test set, with 1 200 ARIs. A total of 1 205 cases were determined as ARI by the model, with a sensitivity of 92.67% (1 112/1 200) and a specificity of 96.45% (2 524/2 617). The model identified ARI with similar accuracy in males and females (AUCs 0.95 and 0.94, respectively), and was more accurate in identifying ARI cases in those aged less than 18 than in adults 18-59 and adults 60 and older (AUCs 0.94, 0.89 and 0.94, respectively). The current model had a better identification of ARIs in outpatient patients than that in hospitalized patients, with AUCs of 0.74 and 0.95, respectively. Conclusion: The use of the BERT pretrained model based on EMRs has a good performance in the recognition of ARI cases, especially for the outpatients and juveniles. It shows a great potential to be applied to the monitoring of ARI cases in medical institutions.


Assuntos
Registros Eletrônicos de Saúde , Infecções Respiratórias , Adulto , Masculino , Feminino , Humanos , Infecções Respiratórias/diagnóstico , Pacientes Ambulatoriais
9.
Zhonghua Yi Xue Za Zhi ; 102(31): 2452-2457, 2022 Aug 23.
Artigo em Chinês | MEDLINE | ID: mdl-36000375

RESUMO

Objective: To investigate the influence of Z-score and different risk factors on positive predictive value (PPV) of noninvasive prenatal testing (NIPT) for chromosome aneuploidies. Methods: A total of 81 838 NIPT samples from January 1, 2016 to May 31, 2021 in the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed. Invasive prenatal diagnosis was applied to verify the diagnosis of NIPT-positive results and the corresponding PPV was calculated. The PPV of the samples with different Z-score were compared. The women were divided into high-risk group and non-high-risk group: high-risk group (n=39 114) included those with ultrasound soft index abnormalities, advanced maternal age or high risk for maternal serum screening, while non-high-risk group (n=42 724) included those with intermediate risk for maternal serum screening or no indications. The differences of the PPV between these two groups were compared. Finally, the comprehensive influence of Z-score and different risk factors on PPV were analyzed. Results: A total of 471 high-risk cases were detected by NIPT results, including 362 cases of trisomy 21, 77 cases of trisomy 18 and 32 cases of trisomy 13. For trisomy 21, trisomy 18 and trisomy 13, there were 226 cases, 46 cases and 6 cases which were confirmed via invasive prenatal diagnosis respectively. The corresponding PPV were 79.3% (226/285), 82.1% (46/56) and 27.3% (6/22), respectively. PPV of trisomy 21 and trisomy 18 were positively correlated with the corresponding Z-score (r=0.92, 0.62, all P<0.05), while trisomy 13 could not be analyzed due to the small sample size. The PPV of high-risk group was 85.2% (207/243), which was higher than that of the non-high-risk group with PPV of 59.2%(71/120, χ2=30.30, P<0.01). When the Z-score was between 3-<4 and 4-<5, the PPV of the high-risk group were 46.2%(12/26)and 62.5%(15/24) respectively, which were higher than those of the non-high-risk group [16.0%(4/25) and 14.3%(3/21), χ2=4.10, 8.90, all P<0.05]. With the increase of Z-score, there was no significant difference in PPV between the two groups (all P>0.05). Conclusions: The PPV of trisomy 21 and trisomy 18 are positively correlated with Z-score. The PPV of high-risk group is higher than that of non-high-risk group. The combination of Z-score and other risk factors may provide more accurate genetic counseling for those with NIPT positive results.


Assuntos
Transtornos Cromossômicos , Síndrome de Down , Teste Pré-Natal não Invasivo , Aneuploidia , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Humanos , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Trissomia , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética
10.
Zhonghua Yi Xue Za Zhi ; 102(23): 1760-1765, 2022 Jun 21.
Artigo em Chinês | MEDLINE | ID: mdl-35705480

RESUMO

Objective: To investigate the longitudinal changes of white matter microstructural based on diffusion tensor imaging in parents who lost their only child without psychiatric disorders and its relationship with symptoms of posttraumatic stress disorder (PTSD). Methods: Parents who had who lost their only child and without psychiatric disorders in Jiangsu Province, from September 2016 to March 2017, were retrospectively collected (TENP group, 32). MRI scans were performed at baseline and at the end of 5-year follow-up, and the Clinician Administered PTSD Scales (CAPS) were used for assessing the severity of symptoms. Additionally, sex, age and education level matched healthy subjects were recruited as healthy controls (control group, 27) and underwent MRI scanning using the same protocol. The differences of fractional anisotropy (FA) values between TENP group and control group at baseline were analyzed by using Tract-based spatial statistics method, and the brain areas of lateral differences were used as the regions of interest for longitudinal follow-up analysis of TENP group. Partial correlation analysis was used to evaluate the relationship between FA values changes in longitudinal differences in brain regions and CAPS scores. Results: Compared with the control group, FA values of the right cingulate gyrus, Uncinate fasciculus, superior longitudinal fasciculus, corticospinal tract, Inferior fronto-occipital fasciculus, Inferior longitudinal fasciculus and forceps major in TENP group were decreased at baseline ((0.613±0.032) vs (0.631±0.034), (0.539±0.048) vs (0.563±0.045), (0.534±0.033) vs (0.558±0.039), (0.560±0.038) vs (0.580±0.030), (0.519±0.023) vs(0.549±0.024), (0.489±0.038) vs (0.518±0.027), (0.499±0.027) vs (0.533±0.032); all P<0.05). From baseline to follow-up, scores of trauma reexperience symptoms and avoidance/numbness symptoms were decreased ((5.2±2.8) vs (8.1±4.9), (4.0±3.2) vs (6.6±5.4); all P<0.05); FA values of the right corticospinal tract, Inferior fronto-occipital fasciculus, Inferior longitudinal fasciculus and forceps major were decreased ((0.523±0.049) vs (0.537±0.049), (0.568±0.052) vs (0.590±0.050), (0.540±0.063) vs (0.559±0.059), (0.520±0.059) vs (0.547±0.059); all P<0.05); The decrease of FA values of the right Inferior fronto-occipital fasciculus and right Inferior longitudinal fasciculus was negatively correlated with the decrease of avoidance/numbness symptoms scores (r=-0.458, -0.374, respectively, all P<0.05). Conclusions: The trauma of parents who lost their only child can result in impaired microstructural integrity of white matter. As the post-traumatic time goes by, parents who have lost their only child do not develop to PTSD and other psychiatric disorders, and the clinical symptoms are alleviated, the damage of the white matter microstructure continued to progress.


Assuntos
Transtornos de Estresse Pós-Traumáticos , Substância Branca , Anisotropia , Encéfalo , Criança , Imagem de Tensor de Difusão/métodos , Humanos , Hipestesia , Filho Único , Pais , Estudos Retrospectivos
11.
J Physiol Pharmacol ; 73(6)2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37087566

RESUMO

Resistin is upregulated in obese humans and mice, and elevated serum resistin induces insulin resistance and hepatic steatosis. Previous studies have revealed that mulberry 1-deoxynojirimycin (DNJ) is important for a variety of physiological processes, especially carbohydrate and lipid metabolism. However, it remains unclear whether DNJ has a positive effect on insulin resistance and hepatic steatosis, and what the exact mechanism is. Male C57BL/6J mice were treated with resistin with or without DNJ. DNJ reversed the homeostasis model assessment of insulin resistance (HOMA-IR)-induced by resistin and significantly decreased triglyceride levels both in the serum and liver. A histological analysis demonstrated that lipid accumulation significantly decreased in the DNJ group compared to the resistin group. A mechanistic analysis showed that DNJ significantly inhibited the resistin-induced decline in enzyme activities of hormone-sensitive lipase (HSL) and hepatic lipase (HL) in serum and lipoprotein lipase (LPL) in liver. FAS and Acox13α were significantly altered by resistin but restored by DNJ. Furthermore, DNJ partially but significantly restored insulin-stimulated glucose uptake compared with the resistin group, suggesting that DNJ reversed the insulin sensitivity impaired by hyperresistinemia. Treatment of AML12 cells with DNJ significantly restored the expression level and phosphorylation of Akt. The transcriptional levels of InsR and IRS1, as well as the protein levels of InsR and Glut4 and phosphorylation of PI3K and GSK3ß, were also normalized in the DNJ-treated group. In conclusion: mulberry DNJ significantly alleviated liver steatosis and insulin resistance in hyperresistinemia.


Assuntos
1-Desoxinojirimicina , Fígado Gorduroso , Resistência à Insulina , Animais , Masculino , Camundongos , 1-Desoxinojirimicina/farmacologia , 1-Desoxinojirimicina/uso terapêutico , 1-Desoxinojirimicina/análise , Fígado Gorduroso/induzido quimicamente , Fígado Gorduroso/tratamento farmacológico , Insulina , Resistência à Insulina/fisiologia , Camundongos Endogâmicos C57BL , Morus/química , Folhas de Planta/química , Resistina/farmacologia
12.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 56(12): 1292-1299, 2021 Dec 07.
Artigo em Chinês | MEDLINE | ID: mdl-34963217

RESUMO

Objective: To investigate the clinical phenotype, treatment and prevention of Van der Hoeve syndrome, and analyze the variation characteristics of its related gene COL1A1. Methods: Hearing and sequencing data of syndromic deafness patients who had undergone genetic testing for deafness at the Chinese People's Liberation Army General Hospital since January 2008 to October 2020 were retrospectively reviewed. The variation of the COL1A1 gene and return visits to traceable patients and families were summarized, the disease progress and clinical treatment effects were analyzed, and the prevention strategies were discussed. Results: A total of 7 patients with COL1A1 gene mutation underwent clinical intervention. The mutation sites were c.1342A>T (p.Lys448*), c.124C>T (p.Gln42*), c.249insG(p.Ala84*), c.668insC(p.Gly224*), c.2829+1G>C, c.1081C>T (p.Arg361*), c.1792C>T (p.Arg598*), of which c.1081C>T and c.1792C>T had been previously reported, and the remaining 5 were novo mutations that have not been reported. All the 7 probands underwent stapes implantation and received genetic counseling and prevention guidance. Conclusions: Van der Hoeve syndrome belongs to osteogenesis imperfecta type Ⅰ. The disease has high penetrance. Timely surgical intervention for hearing loss can improve the life quality in patients. Accurate genetic counseling and preimplantation genetic diagnosis can achieve the primary prevention for the disease.


Assuntos
Osteogênese Imperfeita , Audição , Testes Auditivos , Humanos , Estudos Retrospectivos , Estribo
13.
Zhonghua Liu Xing Bing Xue Za Zhi ; 42(6): 983-991, 2021 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-34814496

RESUMO

Objective: To rapidly evaluate the level of healthcare resource demand for laboratory testing and prevention and control of corona virus disease 2019 (COVID-19) in different epidemic situation, and prepare for the capacity planning, stockpile distribution, and funding raising for infectious disease epidemic response. Methods: An susceptible, exposed, infectious, removed infectious disease dynamics model with confirmed asymptomatic infection cases and symptomatic hospitalized patients was introduced to simulate different COVID-19 epidemic situation and predict the numbers of hospitalized or isolated patients, and based on the current COVID-19 prevention and control measures in China, the demands of resources for laboratory testing and prevention and control of COVID-19 were evaluated. Results: When community or local transmission or outbreaks occur and total population nucleic acid testing is implemented, the need for human resources is 3.3-89.1 times higher than the reserved, and the current resources of medical personal protective equipment and instruments can meet the need. The surge in asymptomatic infections can also increase the human resource demand for laboratory testing and pose challenge to the prevention and control of the disease. When vaccine protection coverage reach ≥50%, appropriate adjustment of the prevention and control measures can reduce the need for laboratory and human resources. Conclusions: There is a great need in our country to reserve the human resources for laboratory testing and disease prevention and control for the response of the possible epidemic of COVID-19. Challenges to human resources resulted from total population nucleic acid testing and its necessity need to be considered. Conducting non-pharmaceutical interventions and encouraging more people to be vaccinated can mitigate the shock on healthcare resource demand in COVID-19 prevention and control.


Assuntos
COVID-19 , Pandemias , Humanos , Pandemias/prevenção & controle , Equipamento de Proteção Individual , SARS-CoV-2
14.
Artigo em Chinês | MEDLINE | ID: mdl-34011003

RESUMO

Objective: To discuss the techniques and repairing methods of various degree of compound tissue defects in the auriculotemporal region. Methods: Retrospective analysis was conducted on three cases of different repairing methods for huge compound tissue defects in different degrees in the auriculotemporal region after the resection of the malignant tumor or sinus tract due to repeated infection in our hospital. Results: Following total removal of the tumors or sinus tract in all patients, we applied retroauricular lingual flap transfer repairing, latissimus dorsi flap free transfer repairing and vascular anastomosis, scalp tissue expansion in stage Ⅰ, then repairing the lesion with expanded scalp and filling the huge mastoid cavity with abdominal fat in stage Ⅱ, respectively, according to the characteristics of compound tissue defects in the auriculotemporal region. All free flaps survived well. Conclusions: The anatomy of the auricular-temporal area is complex and involves important vascular and neural structures of head and neck and lateral skull base. The huge composite tissue defect following auriculotemporal region surgery, which is composed of skin, muscle and bone tissue, needs to be repaired in one stage. Therefore, flexible repairing methods should be chosen based on different situations, for attaining the goal of completely removing tumor and lesions, and then, covering the operation cavity.


Assuntos
Procedimentos de Cirurgia Plástica , Transplante de Pele , Humanos , Estudos Retrospectivos , Lobo Temporal , Resultado do Tratamento
15.
Zhonghua Yi Xue Za Zhi ; 101(2): 87-91, 2021 Jan 12.
Artigo em Chinês | MEDLINE | ID: mdl-33455122

RESUMO

Cochlear implantation is currently the most effective treatment for patients with severe-to-profound sensorineural hearing loss. How to achieve minimally invasive treatment, preserve the residual hearing, and further improve curative effect and reduce surgical complications is the goal of cochlear implantation practice. This article introduces the minimally invasive cochlear implantation technique in terms of the idea of minimally invasive operation, the advantages of electric acoustic stimulation, the key points of electrode implantation technique, the design of surgical incision, and the precise processing of perioperative period. This technique not only has the merits of less operative damage and better hearing and speech rehabilitation after surgery, but also reserves favorable structures and function for the future application of gene therapy and hair cell regeneration technique. Therefore, it is strongly recommended for further promotion in clinical practice.


Assuntos
Implante Coclear , Implantes Cocleares , Perda Auditiva Neurossensorial , Estimulação Acústica , Audição , Perda Auditiva Neurossensorial/cirurgia , Humanos , Resultado do Tratamento
16.
Zhonghua Fu Chan Ke Za Zhi ; 55(10): 679-684, 2020 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-33120479

RESUMO

Objective: To explore the clinical application value and accuracy of cell-free fetal DNA (cff-DNA) technique in prenatal screening. Methods: The results of quantitative fluorescent PCR (QF-PCR) and karyotype of amniotic fluid cells were analyzed retrospectively in 2 398 monocyesis pregnant women who had been amniocentesis at the First Affiliated Hospital of Zhengzhou University from May 2013 to December 2019, and the results of 359 cases who had been examined by single-nucleotide polymorphism array (SNP array). Results: Cff-DNA test of 2, 398 cases indicated 987 cases of trisomy 21, 351 cases of trisomy 18, 135 cases of trisomy 13, 566 cases of sex chromosome abnormality, and 359 cases of other chromosome abnormality. Chromosome karyotype analysis detected 826 cases of trisomy 21, 213 cases of trisomy 18, 17 cases of trisomy 13, 221 cases of sex chromosome abnormality, and 26 cases of other chromosome abnormality. The detection rate were 83.69% (826/987), 60.68% (213/351), 12.59% (17/135), 39.04% (221/566) and 7.24% (26/359), respectively. QF-PCR detected 1 046 cases of trisomy and 188 cases of sex chromosomes abnormality, and the detection rate was 99.05% (1 046/1 056) and 85.07% (188/221), respectively. Compared with the abnormal number detected by chromosome karyotype analysis, 10 cases of trisomeric chimerism and 24 cases of sex chromosome were missed by QF-PCR. Among the 359 other chromosomal abnormalities detected by SNP array, 64 cases were consistent with the results of cff-DNA, and the detection rate was 17.83% (64/359), which was 10.59% higher than the karyotype result. Conclusions: Karyotype analysis is the gold standard for diagnosing chromosomal abnormalities. QF-PCR could diagnose common chromosome aneuploidy rapidly and accurately, and it could be used as an auxiliary detection technique for karyotype analysis. The incidence of sex chromosome chimerism is high, so missed diagnosis should be warned. SNP array could be given priority to verify chromosome microdeletion or microduplication detected by cff-DNA.


Assuntos
Ácidos Nucleicos Livres/genética , Transtornos Cromossômicos/diagnóstico , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Reação em Cadeia da Polimerase em Tempo Real/métodos , Trissomia/genética , Aneuploidia , Transtornos Cromossômicos/genética , DNA/genética , Feminino , Doenças Fetais/sangue , Doenças Fetais/genética , Humanos , Gravidez , Estudos Retrospectivos , Trissomia/diagnóstico
17.
Cancer Manag Res ; 12: 2437-2447, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32308480

RESUMO

INTRODUCTION: The biological changes after irradiation in lung cancer cells are important to reduce recurrence and metastasis of lung cancer. To optimize radiotherapy of lung adenocarcinoma, our study systematically explored the mechanisms of biological behaviors in residual A549 and XWLC-05 cells after irradiation. METHODS: Colony formation assay, cell proliferation assay, cell migration assay, flow cytometry, BALB/C-nu mice xenograft models and Western blot of pan-AKT, p-Akt380, p-Akt473, PCNA, DNA-PKCS, KU70, KU80, CD133, CD144, MMP2 and P53 were used in our study to assess biological changes after irradiation with 0, 4 and 8 Gy at 0-336 hr after irradiation in vitro and 20 Gy at transplantation group, irradiated transplantation group, residual tumor 0, 7, 14, 21, and 28 days groups in vivo. RESULTS: The ability of cell proliferation and radiosensitivity of residual XWLC-05 cells was better than A549 cells after radiation in vivo and in vitro. MMP-2 has statistical differences in vitro and in vivo and increased with the migratory ability of cells in vitro. PCNA and P53 have statistical differences in XWLC-05 and A549 cells and the changes of them are similar to the proliferation of residual cells within first 336 hr after irradiation in vitro. Pan-AKT increased after irradiation, and residual tumor 21-day group (1.5722) has statistic differences between transplantation group (0.9763, p=0.018) and irradiated transplantation group (0.8455, p=0.006) in vivo. Pan-AKT rose to highest when 21-day after residual tumor reach to 0.5 mm2. MMP2 has statistical differences between transplantation group (0.4619) and residual tumor 14-day group (0.8729, p=0.043). P53 has statistical differences between residual tumor 7-day group (0.6184) and residual tumor 28 days group (1.0394, p=0.007). DNA-PKCS has statistical differences between residual tumor 28 days group (1.1769) and transplantation group (0.2483, p=0.010), irradiated transplantation group (0.1983, p=0.002) and residual tumor 21 days group (0.2017, p=0.003), residual tumor 0 days group (0.5992) and irradiated transplantation group (0.1983, p=0.027) and residual tumor 21 days group (0.2017, p=0.002). KU80 and KU70 have no statistical differences at any time point. CONCLUSION: Different proteins regulated apoptosis, proliferation and metastasis of lung adenocarcinoma after radiotherapy at different times. MMP-2 might regulate metastasis ability of XWLC-05 and A549 cells in vitro and in vivo. PCNA and P53 may play important roles in proliferation of vitro XWLC-05 and A549 cells within first 336 hr after irradiation in vitro. After that, P53 may through PI3K/AKT pathway regulate cell proliferation after irradiation in vitro. DNA-PKCS may play a more important role in DNA damage repair than KU70 and KU80 after 336 hr in vitro because it rapidly rose than KU70 and KU80 after irradiation. Different cells have different time rhythm in apoptosis, proliferation and metastasis after radiotherapy. Time rhythm of cells after irradiation should be delivered and more attention should be paid to resist cancer cell proliferation and metastasis.

19.
Opt Lett ; 45(3): 615-618, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-32004265

RESUMO

The conventional computer-generated hologram reconstructing photorealistic three-dimensional (3D) images based on ray-wavefront conversion has the disadvantage of spatio-angular resolution trade-off. In this Letter, we propose for the first time, to the best of our knowledge, a computer-generated photorealistic hologram without spatio-angular resolution trade-off based on the additive compressive light field (CLF) approach. The original light field is compressed into multiple layer images through numerical optimization based on the additive light field principle. Then, by independently calculating the wave propagation from each layer image to the hologram plane and adding them together, a CLF hologram is generated. Since the CLF information is presented through a holographic method, the advantage of high resolution in CLF is preserved while the limitation of the number of physically stacked layers (such as liquid crystal displays) is removed, leading to higher quality, larger depth of field, and higher brightness compared with a conventional CLF display. The proposed method is verified with a photorealistic optical experiment.

20.
Phys Rev Lett ; 123(6): 066402, 2019 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-31491189

RESUMO

The momentum dependence of the nematic order parameter is an important ingredient in the microscopic description of iron-based high-temperature superconductors. While recent reports on FeSe indicate that the nematic order parameter changes sign between electron and hole bands, detailed knowledge is still missing for other compounds. Combining angle-resolved photoemission spectroscopy with uniaxial strain tuning, we measure the nematic band splitting in both FeSe and BaFe_{2}As_{2} without interference from either twinning or magnetic order. We find that the nematic order parameter exhibits the same momentum dependence in both compounds with a sign change between the Brillouin center and the corner. This suggests that the same microscopic mechanism drives the nematic order in spite of the very different phase diagrams.

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