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Resumen Los Trastornos del Espectro Autista (TEA) y los Tras tornos por Déficit de Atención Hiperactividad (TDAH) son Trastornos del Neurodesarrollo (TN) que coexisten frecuentemente y que tienen factores etiológicos, bio lógicos, clínicos en común. La comorbilidad de ambos TN se asocia a un retraso en el diagnóstico del TEA o un diagnóstico que nunca llegan a recibir y es frecuente el desarrollo de alteraciones perceptivas, emocionales, cognitivas y conductuales relacionadas con la Desregu lación Emocional (DE). Cuando ambos TN no son diag nosticados en infancia, frecuentemente reciben diag nósticos equivocados en edades más tardías, siendo el más frecuente el Trastorno Límite de Personalidad (TLP). Se analiza la presentación clínica de la asociación del TEA y el TDAH, la asociación con DE, diferenciación del TLP y evaluación e intervención. La comorbilidad TEA, TDAH, DE, es un trastorno más severo, asociado a poli farmacología y a ingresos hospi talarios.
Abstract Autism Spectrum Disorders (ASD) and Attention Defi cit Hyperactivity Disorders (ADHD) are Neurodevelop mental Disorders (ND) that frequently coexist together and have etiological, biological, and clinical factors in common. The comorbidity of both neurodevelopmental disorders is associated with a delay or lack of ASD di agnosis and the development of perceptual, emotional, cognitive and behavioral alterations related to Emotional Dysregulation (ED) is common. When both TN are not diagnosed in childhood, they frequently receive wrong diagnoses at later ages, the most frequent being Border line Personality Disorder (BPD). The clinical presentation of the association of ASD and ADHD, the association with ED, differentiation of BPD, and evaluation and intervention are here analyzed. The comorbidity ASD, ADHD, ED is a more severe disorder associated to polypharmacology and hospital admissions.
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Resumen Introducción : Las funciones ejecutivas y la meta cognición se integran para la gestión de recursos inte lectuales, en estrecha relación con la inteligencia, su funcionamiento y resultados, especialmente interesan te para comprender la expresión y desarrollo, más o menos óptimos, de la alta capacidad intelectual (ACI). El Objetivo del trabajo es conocer la relación entre las funciones ejecutivas (y componentes) y la metacognición (y componentes) en escolares con ACI. Materiales y Métodos : Las medidas de funcionamien to y ejecutivo, metacognitivo y de perfeccionismo ex traídas en una muestra de n= 147 escolares con ACI son analizadas estadísticamente mediante el Path análisis. Resultados : Se obtiene un modelo ajustado en el que se relacionan los distintos componentes ejecutivos con los metacognitivos. Discusión : Se concluye y discute el modelo integrador entre función ejecutiva y metacognición y su papel me diador, como endofenotipo entre la dotación genética y la expresión de rendimiento de los recursos, sugiriendo la transferencia de resultados a la educación de la alta capacidad intelectual para la óptima y ética expresión del alto potencial.
Abstract Introduction : Executive functions and Metacogni tion are integrated for the management of intellectual resources in close relation to intelligence its function ing and results; they are specially interesting for un derstanding the expression and development of high intellectual abilility (HIA). The aim of the study is to find out the relationship between executive functions (and components) and metacognition (and components) in schoolchildren with HIA. Materials and Method : Measures of executive and metacognitive functioning and perfectionism were ex tracted from a sample of n= 147 schoolchildren with HIA. Results : statistical analyses using Path analysis, of fered an adjusted model in which the different ex ecutive components are related to the metacognitive components. Discussion : We conclude and discuss the integrative model between executive function and metacognition and its mediating role as an endophenotype between genetic endowment and the expression of resource performance, suggesting the transfer of results to the education of high intellectual ability for the optimal and ethical expression of high potential.
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Objective To explore the efficacy of T-cell spot test of tuberculosis infection(T-SPOT.TB)in the differential diagnosis of spinal tuberculosis(STB),and optimize diagnostic efficacy through the optimal cut-off value of receiver operating characteristic(ROC)curve.Methods Clinical data of patients with spinal infection in a hospi-tal from January 2010 to May 2019 were collected,including preoperative T-SPOT.TB test results,white blood cell count,C-reactive protein,erythrocyte sedimentation rate,procalcitonin,and tuberculosis antibodies,etal.Clinical diagnosis was conducted based on diagnostic criteria.The sensitivity and specificity of T-SPOT.TB in preoperative diagnosis of STB and other spinal infection was analyzed,and the diagnostic efficacy of the optimized T-SPOT.TB indicators was evaluated.Results A total of 132 patients were included in this study,out of whom 78 patients(59.09％)were diagnosed with STB,and 54(40.91％)were diagnosed with non-tuberculosis(non-TB)spinal in-fection.The sensitivity and specificity of T-SPOT.TB in differential diagnosis of STB were 67.68％and 66.67％,respectively.Univariate logistic regression analysis showed that compared with non-TB spinal infection,the OR va-lue of T-SPOT.TB test in diagnosing STB was 4.188(95％CI:1.847-9.974,P＜0.001).The optimized T-SPOT.TB evaluation index through ROC curve to determine the optimal cut-off values of ESAT-6,CFP-10,and CFP-10+ESAT-6 for differential diagnosis of STB and non-TB spinal infection were 12.5,19.5,and 36,respec-tively,and area under curve(AUC)values were 0.765 6,0.741 5,and 0.778 6,respectively,all with good diag-nostic efficacy.CFP-10+ESAT-6 had the highest AUC.CFP-10+ESAT-6 specific spot count had higher efficacy in the diagnosis of STB,with a diagnostic accuracy of 75.56％,higher than 67.42％of pre-optimized T-SPOT.TB.Conclusion T-SPOT.TB test has high diagnostic efficacy in differentiating STB from non-TB spinal infection.Posi-tivity in T-SPOT.TB test,especially with spot count of CFP-10+ESAT-6 over 36,indicates a higher likelihood of STB.
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Mesenchymal stem cells(MSCs)are self-regenerating,rapidly proliferating pluripotent stem cells that depend primarily on their derived pro-angiogenic,inflammatory regulatory,and tro-phic factors to exert beneficial effects that attenu-ate deleterious inflammatory responses,reduce vascular damage,and promote tissue repair and re-generation.Obstructive sleep apnea hypoventila-tion syndrome(OSAHS)is a chronic disorder marked by oropharyngeal collapse during sleep,re-sulting in transient reduced airflow,large fluctua-tions in intrathoracic pressure,and intermittent hy-poxia and hypercapnia.OSAHS subsequently cyto-kine-mediated inflammatory cascades,oxidative stress,and ischemia,recruit MSCs from inflamed and damaged tissues through MSCs-derived of anti-inflammatory and pro-angiogenic factor activity,re-duce hypoxia,suppress inflammation,promote re-generation,and prevent fibrosis in OSAHS-injured tissues.In this paper,we will describe the patho-genesis of inflammation,oxidative stress,fibrosis and ischemia from the perspective of OSAHS,high-lighting the current research progress on MSCs-de-pendent regulation of OSAHS-related pathology.
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AIM:To perform a multidimensional analysis of the clinical study characteristics of endo-metriosis based on the ClinicalTrials.gov,providing comprehensive and objective information for re-searchers,clinicians,and clinical pharmacists.METHODS:A thorough investigation was conduct-ed on clinical trials related to endometriosis,regis-tered on the ClinicalTrials.gov from its inception to October 20,2023.Relevant trial data were extract-ed and statistically analyzed using bibliometrics and comparative research methods.RESULTS:A to-tal of 667 endometriosis clinical studies were regis-tered globally,showing an annual increase.The United States(127 trials),France(70 trials),and Ita-ly(57 trials)had the highest number of registered trials.Interventional studies were predominant(416 trials,62.4%),followed by observational stud-ies(251 trials,37.6%).Within interventional stud-ies,drug therapy was the primary intervention(223 trials,53.6%).Despite endometriosis being a female condition,male subjects were also consid-ered,with 6 trials specifically requiring male partici-pants and 37 trials not restricting gender.Compa-nies/corporations were the main funding sources,while public and governmental organizations pro-vided relatively less funding.CONCLUSION:Clinical trial research on endometriosis is in a phase of growth,with drug therapy being the main treat-ment approach.However,there is a relative lack of investment and attention from public funds and governmental organizations.
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Cognitive dysfunction is the impairment of higher brain functions.Cognitive impairment caused by neuropsychiatric diseases has caused serious impact on patients'quality of life and the outcome of the disease.The transcranial alternating current stimulation(tACS)improves cognitive function by modulating neural oscillations of specific frequencies,affecting the release of neurotransmitters such as serotonin and dopamine,and enhancing local and distal synchronization of brain networks.Specific frequencies of tACS can improve the cognitive impairment caused by Alzheimer disease(AD),schizophrenia,and depression,among which the gamma and theta frequencies of tACS have the most significant effects on cognitive function.tACS has high safety and low operational difficulty,and has great potential to improve cognitive function.
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Objective:To analyze the clinical characteristics of patients with inflammatory bowel disea-ses(IBD)in pre-pregnancy,pregancy and loctation.Methods:The clinical data of pregnancy compli-cated with IBD in Department of Obstetrics and Gynecology of Peking University Third Hospital and deli-very from September 2011 to June 2022 were collected.The clinical characteristics of the patients were analyzed retrospectively.According to the state of diseases during pre-pregnancy,pregnancy and lactation,the patients were divided into active and remission group,and the two groups were compared interms of pre-pregnancy counseling,nutritional status,pregnancy and delivery complications,gestational week,mode of delivery,and neonatal outcome.Results:A total of 33 pregnant women with IBD were included in this study,of which 7 delivered a second child,for a total of 40 deliveries,with 36 natural pregnan-cies(90.0％)and 4 assisted reproductions(10.0％).Among the 40 cases,21 cases(52.5％)were sustained in remission in pre-pregnancy,pregnancy and lactation,and 19 cases(47.5％)in disease ac-tivity,of which 8 cases(42.1％)were due to self-withdrawal of drugs or failure to take medicine regu-larly.Compared with the activity group,the disease remission group had a higher rate of pre-pregnancy counseling(57.1％vs.15.8％,P=0.010),and higher levels of hemoglobin[(112.67±8.53)g/L vs.(102.84±5.23)g/L,P＜0.001],serum total protein[(66.58±6.34)g/L vs.(60.83±6.25)g/L,P=0.006],serum albumin[36.4(35.1,38.3)g/L vs.34.3(31.1,35.6)g/L,P=0.006],se-rum calcium[(2.25±0.10)μmol/L vs.(2.13±0.15)μmol/L,P=0.004],but a lower incidence of gestational hypertensive disorders(0 vs.31.6％,P=0.007).In 40 deliveries,there were 27 cases of vaginal delivery(67.5％),13 cases of cesarean section(32.5％).The analysis of neonatal outcomes showed 38 full-term deliveries and 2 preterm deliveries;1 case of macrosomia,1 case of small-for-gesta-tional-age,1 case of low birth weight and 3 cases of birth defects.There were 10 newborns admitted to neonatal intensive care unit,including 4 cases of neonatal infections and 2 cases of neonatal jaundice.Conclusion:Pre-pregnancy counseling and evaluation of IBD patients are very important,and good preg-nancy outcomes can be obtained through careful management during pregnancy in the most of the pa-tients.
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Objective To analyze the correlation between inflammation,nutritional indicators and hy-poproteinemia in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD).Meth-ods The clinical data of patients with AECOPD admitted to the Department of Respiratory and Critical Care Medicine of the First Affiliated Hospital of Xiamen University from January 2020 to September 2022 were ret-rospectively analyzed,and the patients were divided into the hypoproteinemia group(n=73)and the non-hy-poproteinemia group(n=141)according to whether the serum albumin(ALB)was lower than 35 g/L.The clinical data,inflammatory indicators and nutritional indicators of the two groups were compared,Spearman correlation analysis was performed,and binary logistic regression analysis was performed to analyze the influ-encing factors of patients with AECOPD complicated with hypoproteinemia.Results There were statistically significant differences in age,length of hospital stay,and body weight between the two groups(P＜0.05).There were no significant differences in gender,number of hospitalizations in the past 1 year,height,diabetes,hypertension and proportion of coronary heart disease(P＞0.05).Compared with the non-hypoproteinemia group,the hypoproteinemia group had longer hospital stays and higher levels of C-reactive protein,neutrophil/albumin ratio(NAR),neutrophil to lymphocyte ratio(NLR),platelet-lymphocyte ratio(PLR),and systemic immunoinflammatory index(SII).The prognostic nutritional index(PNI),body mass index(BMI),hemoglo-bin and total protein levels were lower,and the difference was statistically significant(P＜0.05).Body weight,BMI,hemoglobin,total protein,PNI and AECOPD patients with hypoproteinemia were negatively cor-related(P＜0.05),while age,length of hospital stay,C-reactive protein,NAR,NLR,PLR,SII and AECOPD patients with hypoproteinemia were positively correlated(P＜0.05).Binary logistic regression analysis showed that PNI,SII and NLR were the influencing factors of hypoproteinemia in AECOPD patients.Conclusion In clinical practice,attention should be paid to and timely correction of hypoproteinemia in pa-tients with AECOPD,improvement of inflammatory indicators and nutritional status of patients,and preven-tion of acute exacerbation.
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Objective To explore the dosimetric differences between abdominal deep inspiration breath hold(ADIBH)mode and free breath(FB)mode in intensity modulated radiation therapy(IMRT)for left breast cancer.Methods From July 2022 to May 2023,a total of 22 patients who needed adjuvant radiation therapy after left breast cancer surgery in the hospital were selected as the research objects.The simulated computed tomography(CT)positioning images of ADIBH and FB modes were collected,the planned target volume(PTV)and endangered organs were outlined,the IMRT plan was designed,and the dosimetric param-eters of the two modes were compared.Results There was no significant difference in the mean dose(Dmean),homogeneity index(HI)and conformity index(CI)of PTV between the ADIBH and the FB modes(P＞0.05).Compared with the FB mode,the heart Dmean,V5,V10,V20,V30 and V40 in the ADIBH mode decreased by 2.95 Gy,12.21％,8.26％,6.56％,5.41％and 3.48％,respectively,and the left anterior descending(LAD)coronary artery Dmean,maximum dose(Dmax),minimum dose(Dmin)and V40 decreased by 15.99 Gy,16.10 Gy,0.82 Gy and 13.73％,respectively,with statistical significance(P＜0.05).Compared with the FB mode,the dose and volume of heart irradiation in the ADIBH mode at the same level were significantly reduced.Pearson correlation analysis showed that there was a positive correlation between heart Dmean and LAD Dmean in the ADIBH mode(r=0.72),and between heart Dmean and LAD Dmean in the FB mode(r=0.69).Compared with the FB mode,the left lung Dmean of the ADIBH mode decreased by 0.99 Gy,and the difference was statistically significant(P＜0.05).However,there was no significant difference in left lung V5,right lung Dmean and right breast Dmean between the two breathing modes(P＞0.05).Conclusion ADIBH mode can effectively reduce the dose to the heart and LAD,and play a good protective role.
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Objective To study the clinical effect of levosimendan combined with recombinant human brain natriuretic peptide(rhBNP)on patients with acute heart failure.Methods A total of 100 patients with acute heart failure in the hospital from December 2019 to December 2021 were selected as the research sub-jects.According to different treatment options,the subjects were divided into the control group,levosimendan group,rhBNP group and combined treatment group,with 25 cases in each group.The control group received traditional conventional diuretic,tube expansion and other treatment;the levosimendan group was treated with levosimendan on the basis of the control group;the rhBNP group was treated with rhBNP on the basis of the control group;the combined treatment group was treated with levosimendan and rhBNP on the basis of the control group.The improvement of New York Heart Association(NYHA)classification,death,rehospitaliza-tion rate,6-minute walking distance,improvement of serological indicators and adverse reactions were recor-ded in each group.Results Before treatment,there was no significant difference in baseline data between the groups(P>0.05).On the 1 st and 3 rd day after treatment,the improvement of NYHA classification in the combined treatment group was better than that in the other groups(P<0.05),and the improvement of NY-HA classification in the levosimendan group and rhBNP group was better than that in the control group(P<0.05).The readmission rate within 6 months after treatment in the combined treatment group was lower than that in the other groups(P<0.05).At 5 and 9 days after treatment,the 6-minute walking distance in the combined treatment group was longer than that in the other groups(P<0.05).At 9 days after treatment,the left ventricular ejection fraction(LVEF)in the combined treatment group was higher than that in the other groups(P<0.05),and the level of N-terminal B-type natriuretic peptide(NT-proBNP)in the combined treatment group was lower than that in the other groups(P<0.05).No significant difference was found in the comparison of the occurrence of adverse reactions among the four groups(P>0.05).Conclusion The combina-tion of levosimendan and rhBNP in the treatment of patients with acute heart failure is superior to traditional treatment and monotherapy in early clinical improvement,and dose not increase the incidence of adverse reactions.
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Objective To analyze the literature on artificial intelligence in forensic research from 2012 to 2022 in the Web of Science Core Collection Database,to explore research hotspots and developmen-tal trends.Methods A total of 736 articles on artificial intelligence in forensic medicine in the Web of Science Core Collection Database from 2012 to 2022 were visualized and analyzed through the litera-ture measuring tool CiteSpace.The authors,institution,country(region),title,journal,keywords,cited references and other information of relevant literatures were analyzed.Results A total of 736 articles published in 220 journals by 355 authors from 289 institutions in 69 countries(regions)were identi-fied,with the number of articles published showing an increasing trend year by year.Among them,the United States had the highest number of publications and China ranked the second.Academy of Forensic Science had the highest number of publications among the institutions.Forensic Science Inter-national,Journal of Forensic Sciences,International Journal of Legal Medicine ranked high in publica-tion and citation frequency.Through the analysis of keywords,it was found that the research hotspots of artificial intelligence in the forensic field mainly focused on the use of artificial intelligence technol-ogy for sex and age estimation,cause of death analysis,postmortem interval estimation,individual identification and so on.Conclusion It is necessary to pay attention to international and institutional cooperation and to strengthen the cross-disciplinary research.Exploring the combination of advanced ar-tificial intelligence technologies with forensic research will be a hotspot and direction for future re-search.
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Objective To establish and forensically verify a 42 microhaplotypes(mircohaps,MHs)mul-tiplex assay system based on next-generation sequencing(NGS),and to explore the application value of this system in the practice of forensic genetics.Methods A total of 42 highly polymorphic MHs were selected from previous studies,and sequenced by the MiSeq FGxTM platform to verify the repeata-bility,sensitivity,specificity,stability,and mixture analysis ability of the detection system.Through population genetic investigation of 102 unrelated Chinese Han individuals in Liyang City,Jiangsu Province,China,the application value of this system in forensic genetics was evaluated.Results The sequencing repeatability of the 42-plex MHs assay was 100%and the sensitivity was as low as 0.062 5 ng.The system had the ability to withstand the interference of indigo(≤2 500 ng/μL),humic acid(≤9 ng/μL),hemoglobin(≤20 μmol),and urea(≤200 ng/μL)and to detect mixtures of 2 people(1∶19),3 people(1∶1∶9)and 4 people(1∶1∶1∶9).Based on 102 individual data,the combined power of discrimination and the combined power of exclusion were 1-3.45×10-30 and 1-3.77×10-11,respectively,and the average effect value of alleles was 2.899.Conclusion The 42-plex MHs assay was successfully established in this study and this system has high repeatability and sensitivity,good anti-jamming ability and mixture analysis ability.The 42 MHs are highly polymorphism and have good application value in individual identification and paternity testing.
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Objective To investigate the correction between the fertilization rate of in vitro fertilization(IVF)and sperm parameters.Methods This retrospective study included 327 cases undergoing IVF procedures in the Center for Reproductive Medicine of Chenz-hou First People's Hospital,who were divided into a low fertilization group(fertilization rate＜30％,n=19)and normal fertilization group(fertilization rate≥30％,n=308)based on the assessment standards of quality control data in the embryology laboratory of our center.The basic information of males,embryo information and related sperm parameters were collected,and the correction between sperm parameters and the fertilization rate was analyzed by Pearson correlation.The influencing factors of the fertilization rate were ana-lyzed by binary logistic regression,and the area under the receiver operating characteristic(ROC)curve(AUC)was performed to ana-lyze the predictive value of low fertilization rate.Results The sperm acrosin activity,percentage of spermatozoa with normal morpholo-gy and sperm DNA fragmentation index(DFI)were the relevant factors affecting the fertilization rate,and the correlation coefficients were 0.168,0.306,and-0.243,respectively(all the P＜0.05).Logistic regression analysis showed that all the three indicators were independent factors affecting the fertilization rate of IVF,and the multivariate logistic equation was as follows:estimated fertilization rate=-2.561+0.035 ×acrosin activity+2.066×percentage of sperm with normal morphology-1.51×sperm DFI.The areas under the ROC curve(AUC)of acrosin activity,percentage of sperm with normal morphology,sperm DFI and the combination of them were 0.806,0.889,0.827 and 0.899,respectively.The corresponding cut-off values for the Yuden index were 61.20 μIU/106 sperm,2.98％,27.50％and-21.32,respectively.The sensitivity of acrosin activity,percentage of sperm with normal morphology,sperm DFI and the combination of three indicators for the prediction of low fertilization rate were 95.70％,76.90％,68.40％,64.30％,and their specificity were 43.50％,94.70％,87.70％,100.00％,respectively.The combination of three indicators showed the best prediction ef-ficiency.Conclusion Acrosin activity,percentage of sperm with normal morphology and sperm DFI should be the independent factors to predict the fertilization rate of IVF,and the multivariate logistic equation can be used as a reference to predict the fertilization rate of IVF.
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Purpose To investigate the effect of CD147 on the proliferation,invasion and migration of cervical cancer cells and its potential molecular mechanism.Methods The expres-sion data of BSG gene(encoding CD147 protein)in cervical cancer samples were downloaded from UCSC database,and the prognosis of different groups of samples was evaluated by Log-rank test.Western blot was used to detect CD147 expression in the Siha and Hela and H8 cells.The expression of CD147 was downregulated by the lentivirus transfection into Hela cells and its transfection efficiency was verified.Western blot was used to detect the expression of p-Akt,p-mTOR,ACC1,FASN,E-cad-herin and N-cadherin in each group.The content of fatty acids in the cells was detected by BODIPY staining and fatty acid kit.Cell proliferation,invasion and migration were detected by CCK-8,plate cloning and Transwell assay.The cell proliferation,in-vasion and migration ability were detected by plate cloning ex-periment and Transwell test.Results The expression of CD147 in cervical cancer tissues was higher than that in normal cervical tissues(P＜0.01).Patients with overexpression of CD147 had poor prognosis.Western blot results showed that compared with H8 cells,the expression of CD147 protein in Siha and Hela cells was increased(P=0.011).After down-regulation of CD147,the protein expression of CD147,ACC1 and FASN in the sh-CD147 group was decreased compared with those in the Hela group(P＜0.001).BODIPY fluorescence staining was weak-ened and fatty acid content was decreased(P＜0.001).The a-bility of cell colony formation,invasion and migration was de-creased.The expression of E-cadherin protein in sh-CD147 group was increased,and the expression of N-cadherin,p-Akt and p-mTOR was decreased.Compared to sh-CD147,after treatment with Akt agonist SC-79(sh-CD147-SC79),the ex-pression of p-Akt,p-mTOR,ACC1,FASN,N-cadherin in cells was increased,and the expression of E-cadherin was decreased,and the results of lipid staining and fatty acid content were con-sistent with the expression of key enzymes(P＜0.01),and the cell proliferation,invasion and migration ability were significant-ly enhanced.Conclusion CD147 through Akt/mTOR signaling pathways regulating the fatty acid synthesis promotes cervical cancer cell proliferation,invasion and migration.
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Purpose To explore the application and clini-copathological significance of molecular classification in endome-trial cancer(EC)of WHO(2020)tumors of the female repro-ductive system.Methods Sixty-two EC patients were collected and categorized into four subgroups,namely POLE mutation type,mismatch repair deficient(MMRd)type,non-specific molecular spectrum(NMSP)type,and p53 mutation type,based on WHO molecular classification tested by PCR and im-munohistochemistry.The correlation among four molecular sub-groups and their clinicopathological features were analyzed.Re-sults The molecular classification was distributed as follows:3(4.8％)cases were POLE-mutated,15(24.2％)cases MMRd,36(58.1％)cases NSMP and 8(12.9％)cases p53 abnormal expression.There were no significant differences a-mong POLE-mutated and infiltration depth,grade,lymph vascu-lar space invasion and other pathological factors such as lymph node metastasis and FIGO stage(P＞0.05).Among 15 patients with MMRd,the proportion of FIGO stage Ⅱ+Ⅲ significantly increased.One case showed abnormal overexpression of p53 pro-tein,while two cases showed complete loss of expression in MMRd subgroup.36 cases of NSMP were associated with low histopathological grade(Grade Ⅰ+Ⅱ)(P＜0.05),and no significant differences were observed among NSMP and other clinicopathological factors(P＞0.05).The p53 abnormal ex-pression in 8 cases was related to high histopathological grade(Grade Ⅲ)(P＜0.05),and the rate of lymph node metastasis and FIGO stage Ⅱ+Ⅲ significantly increased in patients with p53 abnormal expression,and although the difference was not statistically significant(P＞0.05).Conclusion The molecu-lar subgroups of EC have certain clinical application value,the cases with MMRd and p53 abnormal expression may have poor prognosis than these with POLE-mutated and NSMP.
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Objective:To investigate the predictive value of pregnancy-associated plasma protein A(PAPP-A),fasting blood glucose(FPG),body mass index(BMI)and age in gestational diabetes mellitus(GDM)during the first trimester.Methods:A retrospective analysis was performed on 792 pregnant women who underwent pre-natal examination and delivered in Sichuan Provincial Maternal and Child Health Care Hospital from December 2021 to June 2022.They were divided into GDM group(232 cases)and control group(560 cases)according to whether they had GDM.The clinical data,serum PAPP-A median multiple(PAPP-A MoM)in early pregnancy and FPG levels were compared between the two groups.The indicators with statistical significance in univariate analy-sis were included in multivariate Logistic regression analysis to analyze the related factors affecting the occurrence of GDM.The receiver operating curve(ROC)and area under the curve(AUC)of different indexes were plotted to compare the efficacy of GDM prediction.Results:①The age,pre pregnancy BMI,early pregnancy FPG and the proportion of assisted reproductive technology in GDM group were higher than those in control group,and the differences were statistically significant(P＜0.05).The early pregnancy PAPP-A MoM level in GDM group was lower than that in control group,and the difference was statistically significant(P＜0.05).②Multivariate Logistic regression analysis showed that older age,lager pre-pregnancy BMI and lager FPG in the first trimester were in-dependent risk factors for GDM occurrence(OR＞1,P＜0.05),while an increase of PAPP-A MoM in the first tri-mester was a protective factor(OR＜1,P＜0.05).③ROC showed that the combination of PAPP-A MoM in early pregnancy,FPG in early pregnancy,BMI in pre-pregnancy and age had the highest AUC(0.752)when predicting GDM,with a sensitivity of 55.6％and a specificity of 84.3％.Conclusions:The combined screening of serologi-cal(PAPP-A +FPG)and clinical data(pre-pregnancy BMI +age)in early pregnancy has a high clinical application prospect and can be popularized.
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Objective:To investigate the effects of basal luteinizing hormone(bLH)and different luteinizing hor-mone/follicle stimulating hormone ratio(LH/FSH)on the pregnancy outcome of in vitro fertilization or intracyto-plasmic sperm injection(IVF/ICSI)in patients with polycystic ovary syndrome(PCOS).Methods:From July 2013 to January 2020,424 PCOS patients who underwent flexible gonadotropin-releasing hormone antagonist protocol for ovulation induction in first IVF/ICSI were collected retrospectively from the department of reproductive medi-cine,The First Affiliated Hospital of Nanjing Medical University.The patients were divided into normal bLH(LH≤10 U/L,316 cases)and high bLH(LH>10 U/L,108 cases)group according to different levels of bLH;At the same time,according to the different levels of LH/FSH ratio,they were divided into low ratio(LH/FSH≤1,227 cases)group,median ratio(1<LH/FSH<2,142 cases)group and high ratio(LH/FSH≥2,55 cases)group.The general condition,ovulation induction and pregnancy outcomes of the groups were analyzed and compared Binary Logistic regression was used to analyze the related factors affecting live birth.Results:①The basal FSH and AMH in high bLH group were higher than those in normal bLH group,and the difference was statistically significant(P<0.05).In terms of ovarian induction,the number of oocytes retrieved and endometrial thickness on HCG injection day in the high bLH group were smaller than those in the normal bLH group,but the total duration of antagonist used was longer and the differences were statistically significant(P<0.05).Furthermore the pregnancy outcomes of the two groups had no statistical difference(P>0.05).②Compared with patients in different LH/FSH ratio groups,the high ratio group had higher AMH and antral follicle count(AFC)than the other two groups,and the differences were statistically significant(P<0.05).In terms of ovulation induction,the high ratio group had lower numbers of retrieved eggs,transferred embryos,and endometrial thickness on HCG day compared to the other two groups,with statistically significant differences(P<0.05).There was no statistically significant difference in pregnancy outcome indicators among the three groups of patients(P>0.05).③Binary Logistic regression analy-sis showed no significant correlation between live birth rate and bLH,LH/FSH ratio(P>0.05),but the live birth rate was related to the number of embryos transferred(P<0.05).Conclusions:Elevated bLH level and LH/FSH ratio may affect the outcomes of ovulation induction in women with PCOS(such as the number of oocytes re-trieved and endometrial thickness on HCG injection day),but there is no significant correlation with live birth rate of assisted reproduction.
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Objective To provide reference for the subsequent clinical application of WBV,based on the impacts of whole body vibration(WBV)with different frequencies on gross motor function and walking function in children with dyskinetic cerebral palsy.Methods 60 children aged 6～12 with dyskinetic cerebral palsy,who had been treated at the department of rehabilitation medicine in the Affiliated Southwest Medical University from October 2021 to November 2022,were selected.They were randomly divided into a control group(n = 20),(25±5)Hz group(n = 20),and(35±5)Hz group(n = 20).All the three groups received conventional rehabilitation,while the(25±5)Hz group received additional WBV with(25±5)Hz and the(35±5)Hz group received WBV with(35±5)Hz.They were treated for eight weeks.The scores on D and E domains of GMFM-88,TUGT,the score on Berg Balance Scale,and footprint analysis were used for assessment of the efficacy after treatment.Results As compared with the baselines,the scores were improved in the three groups after treatment(P＜0.001).BBS(F = 12.502),TUGT(F = 8.211),scores on D and E domains of GMFM-88(F = 12.802 and 8.505),stride length(F = 12.279),1MWT distance(F = 12.619),and step width(F = 13.582)were better in the(35±5)Hz group than in the(25±5)Hz group and the control group(P＜0.05 and P＜0.01);and the efficacy was better in the(25±5)Hz group than in the control group,the difference was statistically significant(P＜0.05 and P＜0.01).Conclusion WBV can improve trunk control,lower limb gross motor function,and walking function in children with involuntary motor type cerebral palsy.(35±5)Hz is better than(25±5)Hz for the efficacy of WBV.
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Objective Amyotrophic lateral sclerosis(ALS)is a progressive and fatal neurodegenerative disease.Mutations in the Cu/Zn superoxide dismutase 1 gene(SOD1)have been identified as the cause of familial ALS.Sequencing the SOD1 gene may be helpful for patients with a suspected family history of ALS.This article reports for the first time a case of amyotrophic lateral sclerosis with SOD1-p.A5S mutation in Han Chinese and summarizes its clinical characteristics.Method and Results This is the first report on Chinese Han of ALS with SOD1-p.A5S mutation and review of relevant case literature to summarize its clinical characteristics.The study case is a 34-year-old male who was admitted to the Neurology Department of The First Affiliated Hospital of Xi'an Jiaotong University with a complaint of"weakness in both lower limbs for 2 years,worsening with both hands for 6 months".The main clinical manifestations were progressive limb weakness,no swallowing difficulties or cognitive impairment.Further improvement of routine examinations and electromyography after admission were made to rule out other diagnoses,and genetic testing was conducted.Based on the patient's typical clinical manifestations and evidence of involvement of lower motor neurons in the cervical,thoracic,and lumbar spinal cord areas indicated by electromyography,other diagnoses and characteristic gene testing results were reasonably excluded,and ALS was diagnosed.The genetic testing results indicated that the patient had a heterozygous mutation in SOD1 exon 1,c.13G＞T(p.A5S),and his mother had a suspicious medical history but died without genetic verification.After discharge,the follow-up period lasted until August 21,2022,with a total of 38 months and a course of 62 months.Further review of the clinical characteristics of other patients with the same site mutation reported in the literature reveals that the progress of this patient with the mutation was slower than that of other patients with the same site mutation reported in the literature.Conclusion This study shows that gene sequencing is a powerful tool for diagnosing familial ALS.The mutation of c.13G＞T(p.A5S)in exon 1 of SOD1 is a rare pathogenic variation.The progress of patients with this subtype is slow,which further indicates that gene detection has important value in the diagnosis and prognosis of ALS.
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Objective@#To explore the clinical manifestations, histopathological characteristics, diagnosis, treatment, and prognosis of simultaneous unilateral primary tumors of different pathological types in the parotid gland.@*Methods@#A case of simultaneous unilateral primary parotid gland tumors, i.e., adenolymphoma and basal cell adenoma, was reviewed and analyzed in combination with the literature.@*Results@#The patient discovered a lump in the right parotid gland area one month prior to presentation, and a tumor was palpated in the shallow lobe of the right parotid gland before surgery. According to MR images, the initial diagnoses were tumors of the shallow and deep lobes of the right parotid gland. The tumors of the deep and shallow lobes were excised with part of the gland, and the facial nerves were dissected under general anesthesia. Postoperative pathology revealed an adenolymphoma in the shallow lobe of the right parotid gland and a basal cell adenoma with cystic transformation in the deep lobe. The surgical effect was good, with no complications, and there was no recurrence after 1 year of follow-up. A review of the relevant literature showed that multiple primary tumors of the parotid gland can manifest as the simultaneous presence of two or more types of tumors on both sides or on one side, and the disease is mainly treated with surgery.@*Conclusion@#Multiple unilateral primary parotid gland tumors are rare. Imaging examinations need to be combined with clinical evaluations to prevent missed diagnoses. Surgery is the first treatment option, and patients with benign tumors have a good prognosis.