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BACKGROUND: Carotid atherosclerosis (CAS), an important factor in the development of stroke, is a major public health concern. The aim of this study was to establish and validate machine learning (ML) models for early screening of CAS using routine health check-up indicators in northeast China. METHODS: A total of 69,601 health check-up records from the health examination center of the First Hospital of China Medical University (Shenyang, China) were collected between 2018 and 2019. For the 2019 records, 80% were assigned to the training set and 20% to the testing set. The 2018 records were used as the external validation dataset. Ten ML algorithms, including decision tree (DT), K-nearest neighbors (KNN), logistic regression (LR), naive Bayes (NB), random forest (RF), multiplayer perceptron (MLP), extreme gradient boosting machine (XGB), gradient boosting decision tree (GBDT), linear support vector machine (SVM-linear), and non-linear support vector machine (SVM-nonlinear), were used to construct CAS screening models. The area under the receiver operating characteristic curve (auROC) and precision-recall curve (auPR) were used as measures of model performance. The SHapley Additive exPlanations (SHAP) method was used to demonstrate the interpretability of the optimal model. RESULTS: A total of 6315 records of patients undergoing carotid ultrasonography were collected; of these, 1632, 407, and 1141 patients were diagnosed with CAS in the training, internal validation, and external validation datasets, respectively. The GBDT model achieved the highest performance metrics with auROC of 0.860 (95% CI 0.839-0.880) in the internal validation dataset and 0.851 (95% CI 0.837-0.863) in the external validation dataset. Individuals with diabetes or those over 65 years of age showed low negative predictive value. In the interpretability analysis, age was the most important factor influencing the performance of the GBDT model, followed by sex and non-high-density lipoprotein cholesterol. CONCLUSIONS: The ML models developed could provide good performance for CAS identification using routine health check-up indicators and could hopefully be applied in scenarios without ethnic and geographic heterogeneity for CAS prevention.
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Doenças das Artérias Carótidas , Acidente Vascular Cerebral , Humanos , Teorema de Bayes , Doenças das Artérias Carótidas/diagnóstico por imagem , Algoritmos , Aprendizado de MáquinaRESUMO
Metformin is a commonly used drug for the treatment of type II diabetes and atorvastatin is the most prescribed cholesterol-lowering statin. The present study investigated the effects and mechanisms of metformin and atorvastatin in combination on human prostate cancer cells cultured in vitro and grown as xenograft tumor in vivo. Metformin in combination with atorvastatin had stronger effects on growth inhibition and apoptosis in PC-3 cells than either drug alone. The combination also potently inhibited cell migration and the formation of tumorspheres. Metformin and atorvastatin in combination had a potent inhibitory effect on nuclear factor-kappaB (NF-κB) activity and caused strong decreases in the expression of its downstream anti-apoptotic gene Survivin. Moreover, strong decreases in the levels of phospho-Akt and phosphor-extracellular signal-regulated kinase (Erk)1/2 were found in the cells treated with the combination. The in vivo study showed that treatment of severe combined immunodeficient (SCID) mice with metformin or atorvastatin alone resulted in moderate inhibition of tumor growth while the combination strongly inhibited the growth of the tumors. Results of the present study indicate the combination of metformin and atorvastatin may be an effective strategy for inhibiting the growth of prostate cancer and should be evaluated clinically.
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Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Atorvastatina/uso terapêutico , Metformina/uso terapêutico , Neoplasias da Próstata/tratamento farmacológico , Animais , Antineoplásicos/farmacologia , Apoptose/efeitos dos fármacos , Atorvastatina/farmacologia , Linhagem Celular Tumoral , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hipoglicemiantes/farmacologia , Hipoglicemiantes/uso terapêutico , Proteínas Inibidoras de Apoptose/metabolismo , Masculino , Metformina/farmacologia , Camundongos SCID , NF-kappa B/metabolismo , Neoplasias da Próstata/patologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Survivina , Carga Tumoral/efeitos dos fármacos , Ensaios Antitumorais Modelo de XenoenxertoRESUMO
Confined migration of hot electrons is presented in nanorods of layered Ag/graphene/TiO2 structure for highly efficient plasmonic photocatalytic water treatment. The light-illuminating titanium dioxide (TiO2) nanorods provide a large amount of high-energy hot electrons for the generation of highly-active superoxide radical (*O2 -) that leads to the degradation of organics in water. Comparison between photocatalytic processing efficiency by photocatalysts with various composite materials were presented based on the preferred propagation path of induced hot electrons that leads to generation of *O2 -. The best results done by Ag/graphene/TiO2 nanorods showed that the sandwiched layer of graphene on TiO2 nanorods collects the induced hot electrons and results in high efficiency photocatalytic reaction.
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BACKGROUND: The ras genes play an important role in the development and progression of human tumours. Neutralizing Ras proteins in the cytoplasm could be an effective approach to blocking ras signalling. In this study, we prepared anti-p21Ras single chain fragment variable antibody (scFv) and investigated its immunoreactivity with human tumours. METHODS: The coding sequences of H-ras, K-ras, and N-ras were separately ligated into the vector pET-28a(+). Then, recombinant expressing plasmids were induced by IPTG for p21Ras expression in E. coli. Hybridoma cell lines producing anti-p21Ras monoclonal antibodies were isolated using wildtype p21Ras proteins as immunogens. Anti-p21Ras scFv antibody was prepared from the hybridoma by the phage scFv display method. The immunoreactivity of the anti-p21Ras monoclonal antibody and the scFv antibody was identified by ELISA and immunocytochemistry. RESULTS: We prokaryotically expressed wildtype H-p21Ras, K-p21Ras and N-p21Ras and generated the hybridoma cell line KGH-R1, producing anti-p21Ras monoclonal antibodies. It was demonstrated that KGH-R1 monoclonal antibody could recognize wildtype and mutated H-p21Ras, K-p21Ras and N-p21Ras in human tumour cell lines. In all 14 types of primary human cancer tissues tested, the monoclonal antibody presented strong immunoreactivity but showed weak or negative immunoreactivity in the corresponding normal tissues. Subsequently, we prepared anti-p21Ras scFv from hybridoma KGH-R1, which showed the same immunoreactivity as the original monoclonal antibody. Sequence analysis demonstrated that the nucleotides and amino acids of the scFv exhibited an approximately 50 % difference from the anti-p21Ras scFv reported previously. CONCLUSIONS: This study presents a novel anti-p21Ras scFv antibody. Our data suggest that the scFv may be useful for ras signalling blockage and may be a potential therapeutic antibody for ras-derived tumours.
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Anticorpos Monoclonais/biossíntese , Proteínas Proto-Oncogênicas p21(ras)/imunologia , Anticorpos de Cadeia Única/biossíntese , Animais , Anticorpos Monoclonais/farmacologia , Especificidade de Anticorpos , Linhagem Celular Tumoral , Células HCT116 , Células HeLa , Células Hep G2 , Humanos , Hibridomas/citologia , Células MCF-7 , Camundongos , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Recombinantes/biossíntese , Proteínas Recombinantes/farmacologia , Anticorpos de Cadeia Única/farmacologiaRESUMO
BACKGROUND: Japanese encephalitis virus (JEV) is the most important cause of epidemic encephalitis in most Asian regions. There is no specific treatment available for Japanese encephalitis, and vaccination is the only effective way to prevent JEV infection in humans and domestic animals. The purpose of this study is to establish a new mammalian cell line stably and efficiently expressing virus-like particle of JEV for potential use of JEV subunit vaccine. RESULTS: We generated a new cell clone (BJ-ME cells) that stably produces a secreted form of Japanese encephalitis virus (JEV) virus-like particle (VLP). The BJ-ME cells were engineered by transfecting BHK-21 cells with a code-optimized cDNA encoding JEV prM and E protein expression plasmid. Cell line BJ-ME can stably produces a secreted form of Japanese encephalitis virus virus-like particle (JEV-VLP) which contains the JEV envelope glycoprotein (E) and membrane protein (M). The amount of JEV-VLP antigen released into the culture fluid of BJ-ME cells was as high as 15-20 µg/ml. JEV-VLP production was stable after multiple cell passages and 100% cell expression was maintained without detectable cell fusion or apoptosis. Cell culture fluid containing the JEV-VLP antigen could be harvested five to seven times continuously at intervals of 4-6 days while maintaining the culture. Mice immunized with the JEV-VLP antigen with or without adjuvant developed high titers of neutralizing antibodies and 100% protection against lethal JEV challenge. CONCLUSION: These results suggest that the recombinant JEV-VLP antigen produced by the BJ-ME cell line is an effective, safe and affordable subunit Japanese encephalitis vaccine candidate, especially for domestic animals such as pig and horse.
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Vírus da Encefalite Japonesa (Espécie)/metabolismo , Vacinas de Partículas Semelhantes a Vírus/imunologia , Animais , Anticorpos Neutralizantes/imunologia , Anticorpos Neutralizantes/metabolismo , Linhagem Celular , Cricetinae , Feminino , Vacinas contra Encefalite Japonesa/biossíntese , Vacinas contra Encefalite Japonesa/genética , Vacinas contra Encefalite Japonesa/imunologia , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Camundongos , Camundongos Endogâmicos BALB C , Proteínas Recombinantes/biossíntese , Proteínas Recombinantes/genética , Vacinas de Partículas Semelhantes a Vírus/biossíntese , Vacinas de Partículas Semelhantes a Vírus/genética , Proteínas do Envelope Viral/genética , Proteínas do Envelope Viral/metabolismo , Proteínas da Matriz Viral/genética , Proteínas da Matriz Viral/metabolismoAssuntos
Antivirais/uso terapêutico , Transplante de Microbiota Fecal , Antígenos E da Hepatite B/análise , Hepatite B Crônica/terapia , Hepatite B Crônica/virologia , Adulto , Estudos de Casos e Controles , Feminino , Microbioma Gastrointestinal/imunologia , Hepatite B Crônica/imunologia , Humanos , MasculinoRESUMO
BACKGROUND: Acute gastrointestinal illness (AGI) is an important public-health problem worldwide. Previous national studies of the incidence of AGI in China were performed decades ago, and detailed information was not available. This study therefore sought to determine the magnitude, distribution, and burden of self-reported AGI in China. METHODS: Twelve-month, retrospective face-to-face surveys were conducted in 20 sentinel sites from six provinces between July 2010 and July 2011. RESULTS: In total, 39686 interviews were completed. The overall adjusted monthly prevalence of AGI was 4.2% (95% confidence interval, 4.0-4.4), corresponding to 0.56 episodes of AGI per person-year. Rates of AGI were highest in children aged < 5 years. Healthcare was sought by 56.1% of those reporting illness. Of the cases who visited a doctor, 32.7% submitted a stool sample. The use of antibiotics was reported by 49.7% of the cases who sought medical care and 54.0% took antidiarrhoeals. In the multivariable model, gender, age, education, household type, residence, season, province and travel were significant risk factors of being a case of AGI. CONCLUSIONS: This first population-based study in China indicated that AGI represents a substantial burden of health. Further research into the specific pathogens is needed to better estimate the burden of AGI and foodborne disease in China.
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Gastroenteropatias/epidemiologia , Doença Aguda , Adolescente , Adulto , Criança , Pré-Escolar , China/epidemiologia , Estudos Transversais , Feminino , Gastroenteropatias/etiologia , Humanos , Lactente , Recém-Nascido , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Autorrelato , Fatores Socioeconômicos , Adulto JovemRESUMO
Peach is one of the most perishable fruits. During forced-convection cooling, the heat sources (respiratory and evaporative latent heat) internal to freshly harvested peaches have a remarkable influence on its evaluation of cooling characteristics with respect to various cooling strategies. Therefore, to improve the accuracy of simulation results in peaches cooling, the term of heat source was coded as detailed procedures and included into a computational fluid dynamics (CFD) model. By comparing the temperature simulated with and without considering these heat sources, it is found that a reasonable decrease in variations of cooling performances is obtained with sustained increase in air-inflow velocities. A maximum discrepancy in peaches volume-weighted average temperature (∆T vwa-max) is mainly concentrated in 0.1-0.3°C when the air-inflow velocity not exceeds 1.7 m/s, and its corresponded 7/8ths cooling time (SECT) is also prolonged by 1-6 min. This means that, below 1.7 m/s, these heat sources should be added as a term into the heat transfer equations for modifying the mathematical model inside peaches computational domain. Furthermore, the feasibility of this modeling method is confirmed by a great agreement with experiments, and its modified model has a higher accuracy with the decreased RMSE and MAPE values of 6.90%-11.26% and 7.28%-12.95%, respectively.
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Background: Early-stage diagnosis and treatment can improve survival rates of liver cancer patients. Dynamic contrast-enhanced MRI provides the most comprehensive information for differential diagnosis of liver tumors. However, MRI diagnosis is affected by subjective experience, so deep learning may supply a new diagnostic strategy. We used convolutional neural networks (CNNs) to develop a deep learning system (DLS) to classify liver tumors based on enhanced MR images, unenhanced MR images, and clinical data including text and laboratory test results. Methods: Using data from 1,210 patients with liver tumors (N = 31,608 images), we trained CNNs to get seven-way classifiers, binary classifiers, and three-way malignancy-classifiers (Model A-Model G). Models were validated in an external independent extended cohort of 201 patients (N = 6,816 images). The area under receiver operating characteristic (ROC) curve (AUC) were compared across different models. We also compared the sensitivity and specificity of models with the performance of three experienced radiologists. Results: Deep learning achieves a performance on par with three experienced radiologists on classifying liver tumors in seven categories. Using only unenhanced images, CNN performs well in distinguishing malignant from benign liver tumors (AUC, 0.946; 95% CI 0.914-0.979 vs. 0.951; 0.919-0.982, P = 0.664). New CNN combining unenhanced images with clinical data greatly improved the performance of classifying malignancies as hepatocellular carcinoma (AUC, 0.985; 95% CI 0.960-1.000), metastatic tumors (0.998; 0.989-1.000), and other primary malignancies (0.963; 0.896-1.000), and the agreement with pathology was 91.9%.These models mined diagnostic information in unenhanced images and clinical data by deep-neural-network, which were different to previous methods that utilized enhanced images. The sensitivity and specificity of almost every category in these models reached the same high level compared to three experienced radiologists. Conclusion: Trained with data in various acquisition conditions, DLS that integrated these models could be used as an accurate and time-saving assisted-diagnostic strategy for liver tumors in clinical settings, even in the absence of contrast agents. DLS therefore has the potential to avoid contrast-related side effects and reduce economic costs associated with current standard MRI inspection practices for liver tumor patients.
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OBJECTIVE: To establish a magnetic particle antibody immunoassay (MPAIA) for the detection of specific antibody in sera of schistosomiasis patients. METHODS: Fluorescein isothiocyanate (FITC) was used to label Schistosoma japonicum soluble egg antigen (Sj-SEA). Anti-human IgG coated with alkaline phosphatase (ALP) as enzyme-labeled second antibody, and magnetic beads were coupled with sheep anti-FITC antibody as solid phase. Phenolphthale in monophosphate was used as substrate to set up MPAIA for the detection. Serum samples from cases with schistosomiasis or other helminth infections were tested. RESULTS: The positive rate of MPAIA was 96.7% (116/120) with the sera of S. japonicum-infected cases. No cross reaction was observed with sera of trichinellosis, paragonimiasis or cysticercosis cases. The positive titer with reference sample was 1: 1,600. The precision was lower than 10%. The MPAIA tips can be stored at 4 degrees C for 12 months. CONCLUSION: MPAIA shows a high sensitivity, proper specificity and long-term validity for schistosomiasis detection.
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Ensaio de Imunoadsorção Enzimática/métodos , Contagem de Ovos de Parasitas/métodos , Schistosoma japonicum/imunologia , Animais , Anticorpos Anti-Helmínticos/sangue , Antígenos de Helmintos/isolamento & purificação , Humanos , Magnetismo , Sensibilidade e EspecificidadeRESUMO
PURPOSE: The evidence from recent epidemiological studies investigating the relationship between bone mineral density (BMD) and the risk of breast cancer (BC) remains inconsistent. MATERIALS AND METHODS: The PubMed, EMBASE, and Web of Science databases were comprehensively searched by two independent authors to identify related cohort studies from the inception of the databases through January 31, 2018. Similarly, two researchers separately extracted the data from the selected studies, and any differences were resolved by discussion. Summarized relative risks (RRs) and 95% CIs were summarized via inverse variance weighted random-effects meta-analysis. Heterogeneity among studies was assessed with the I 2 statistic. RESULTS: Ten studies with 1,522 BC patients among 81,902 participants were included in this meta-analysis. Compared to the participants with the lowest BMD at the lumbar spine, those with the highest BMD had a significantly lower RR for BC (RR =0.75; 95% CI =0.60-0.93; I 2=23.0%). In the subgroup analyses, although the directions of the results were consistent with those of the main findings, not all showed statistical significance. We failed to detect an association between BMD at the femoral neck or total hip and the risk of BC (RR =0.94; 95% CI =0.66-1.33; I 2=72.5%). Furthermore, the results of the dose-response analysis did not show a significant association between BMD at the lumbar spine, femoral neck, or total hip and the risk of BC. Funnel plot and statistical analyses showed no evidence of publication bias. CONCLUSION: There is no relationship between BMD and the risk of BC. More prospective cohort studies are warranted to further investigate this issue.
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Objective To compare the clinical effects between sutureless bridge intrascleral fixation and ciliary sul-cus suture suspension of intraocular lens(IOL)1 year postoperatively.Methods In this retrospective study,14 patients(14 eyes)who underwent sutureless bridge intrascleral IOL fixation in the No.988 Hospital of Joint Logistic Support Force of PLA from March 2019 to January 2022 were taken as the intrascleral fixation group and 15 patients(15 eyes)who under-went IOL ciliary sulcus suture suspension in the same period were taken as the suture suspension group.During the 1-year follow-up,the preoperative and postoperative uncorrected visual acuity(UCVA),best corrected visual acuity(BCVA)(logMAR),spherical equivalent(SE),endothelial cell count(ECC),intraocular pressure(IOP)and IOL position were compared between the two groups.Results At 1,6 and 12 months postoperatively,the UCVA in both groups significant-ly increased compared with those before surgery(all P<0.05),and UCVA in the intrascleral fixation group were better than those in the suture suspension group at all postoperative time points(F=4.560,6.411 and5.373;all P<0.05).At 1,6 and 12 months postoperatively,there was no significant difference in BCVA in both groups compared with those before surgery(all P>0.05),but BCVA in the intrascleral fixation group were better than those in the suture suspension group at all postoperative time points(F=6.170,6.957 and 10.624;all P<0.05).After surgery,eyes in the intrascleral fixation group showed hyperopia drift,while eyes in the suture suspension group showed myopia drift.At 1,6 and 12 months post-operatively,the SE of the intrascleral fixation group were(0.59±0.30)D,(0.57±0.27)D and(0.64±0.29)D,respec-tively,and those of the suture suspension group were(-0.75±0.44)D,(-0.72±0.42)D and(-1.12±0.64)D,re-spectively.At 6 months postoperatively,the ECC of both groups were significantly lower than those before surgery(t=8.579 and 21.929;both P<0.001).The IOP in both groups were within the normal range preoperatively and stable during the follow-up.The IOL were centrally located without obvious decentration or tilt during the follow-up.In addition,there were no vitreous and retinal complications.Conclusion Both sutureless bridge intrascleral IOL fixation and IOL ciliary sulcus suture suspension can obtain a favorable prognosis of visual acuity with refractive shift,while sutureless bridge in-trascleral fixation shows better clinical outcomes.
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Vegetation patch is one of the most basic characteristics of natural grazing grassland. To explore the effects of vegetation patch on soil microbial community, the changes of soil microbial biomass and community structure under four different vegetation patches in Ningxia desert steppe were quantified using phospholipid fatty acid (PLFA) analysis. The results showed that: 1) Soil microbial groups were abundant in vegetation patches, with the highest bacterial content, low fungal and actinomycete content, and the Gram-positive bacteria content being higher than that of Gram-negative bacteria in the patches of the four plant communities; 2) The total soil microbial biomass of Glycyrrhiza uralensis patch was significantly higher than that of Artemisia scoparia, Sophora alopecuroides, and Astragalus melilotoides patches; 3) Total PLFAs, Gram-positive bacteria, Gram-negative bacteria, fungi, anaerobic bacteria and fungi/bacteria were significantly positively correlated with soil organic C, and significantly negatively correlated with soil pH, indicating that soil organic C and pH were important factors affecting the growth and development of soil microorganisms in desert steppe.
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Ecossistema , Microbiologia do Solo , Solo , Bactérias , China , Clima Desértico , Fungos , PradariaRESUMO
BACKGROUND:Previous literature reported that the fusion cage moved more than 2 mm from its original position,which means that the fusion cage moved backward.At present,clinical observation has found that the factors leading to the displacement of the fusion cage are complex,and the relationship between these factors and the cage retropulsion is not clear. OBJECTIVE:To explore the risk factors related to cage retropulsion after lumbar interbody fusion. METHODS:Retrospective analysis was conducted in 200 patients who underwent transforaminal lumbar interbody fusion surgery with a polyetheretherketone interbody fusion from February 2020 to February 2022.According to the distance from the posterior edge of the vertebral fusion cage to the posterior edge of the vertebral body after the operation(the second day after the removal of the drainage tube)and 1,3,6 and 12 months after the operation,patients were divided into cage retropulsion group(≥2 mm)and cage non-retropulsion group(<2 mm).The factors that may affect cage retropulsion,such as age,gender,body mass index,bone mineral density,operation time,bleeding,endplate injury,preoperative and postoperative interbody height,cage implantation depth,cage size,and segmental anterior convexity angle,were analyzed by univariate and logistic regression analysis. RESULTS AND CONCLUSION:(1)Posterior displacement of the fusion cage occurred in 15 cases(15/200).The differences in basic information such as age and body mass index between the two groups were not statistically significant.(2)The results of the univariate analysis were that gap height difference,time to wear a brace,segmental anterior convexity angle difference,bone mineral density,and age were related to posterior migration of the cage.(3)The results of logistic regression analysis were that cage size,endplate injury condition,and depth of cage implantation were risk factors for cage retropulsion.(4)These findings suggest that cage retropulsion after lumbar interbody fusion is caused by multiple factors,including segmental anterior convexity angle difference,bone mineral density,cage size,endplate damage,time to wear a brace,and depth of cage implantation.
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OBJECTIVE@#To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51).@*METHODS@#A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic.@*CONCLUSION@#The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.
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Humanos , Feminino , Pré-Escolar , Deficiência Intelectual/genética , Transtorno do Espectro Autista/genética , MutaçãoRESUMO
OBJECTIVE@#To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia.@*METHODS@#Clinical examinations and laboratory testing were carried out for the patient. The proband and the parents' genomic DNA was extracted from peripheral blood samples and subjected to trio whole-exome sequencing. Candidate variant was validated by Sanger sequencing.@*RESULTS@#The 1-year-and-8-month-old boy manifested motor developmental delay, ataxia, hypomyotonia, increased serum creatine kinase. Cranial MRI showed cerebellar atrophy with progressive aggravation. Genetic testing revealed that the patient has harbored compound heterozygous variants of the MSTO1 gene, namely c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile), which were respectively inherited from his mother and father. The former was unreported previously and was predicted to be likely pathogenic, whilst the latter has been reported previously and was predicted to be of uncertain significance.@*CONCLUSION@#The compound heterozygous c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile) variants probably underlay the disease in the proband. Above finding has enriched the spectrum of MSTO1 gene variants underlying mitochondrial myopathy and cerebellar atrophy with ataxia.
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Criança , Humanos , Lactente , Masculino , Ataxia/genética , Atrofia/genética , Proteínas de Ciclo Celular/genética , Proteínas do Citoesqueleto/genética , Miopatias Mitocondriais , Mutação , Doenças Neurodegenerativas , Sequenciamento do ExomaRESUMO
OBJECTIVES@#To investigate the incidence of extrauterine growth retardation (EUGR) and its risk factors in very preterm infants (VPIs) during hospitalization in China.@*METHODS@#A prospective multicenter study was performed on the medical data of 2 514 VPIs who were hospitalized in the department of neonatology in 28 hospitals from 7 areas of China between September 2019 and December 2020. According to the presence or absence of EUGR based on the evaluation of body weight at the corrected gestational age of 36 weeks or at discharge, the VPIs were classified to two groups: EUGR group (n=1 189) and non-EUGR (n=1 325). The clinical features were compared between the two groups, and the incidence of EUGR and risk factors for EUGR were examined.@*RESULTS@#The incidence of EUGR was 47.30% (1 189/2 514) evaluated by weight. The multivariate logistic regression analysis showed that higher weight growth velocity after regaining birth weight and higher cumulative calorie intake during the first week of hospitalization were protective factors against EUGR (P<0.05), while small-for-gestational-age birth, prolonged time to the initiation of total enteral feeding, prolonged cumulative fasting time, lower breast milk intake before starting human milk fortifiers, prolonged time to the initiation of full fortified feeding, and moderate-to-severe bronchopulmonary dysplasia were risk factors for EUGR (P<0.05).@*CONCLUSIONS@#It is crucial to reduce the incidence of EUGR by achieving total enteral feeding as early as possible, strengthening breastfeeding, increasing calorie intake in the first week after birth, improving the velocity of weight gain, and preventing moderate-severe bronchopulmonary dysplasia in VPIs.
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Feminino , Humanos , Lactente , Recém-Nascido , Retardo do Crescimento Fetal , Idade Gestacional , Hospitalização , Incidência , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Estudos Prospectivos , Fatores de RiscoRESUMO
This study aimed to analyze the methodological quality of systematic reviews of Shuxuening Injection and evaluate the efficacy and adverse reactions of Shuxuening Injection in the treatment of different diseases,in order to provide supportive evidence for clinical practice. Three Chinese databases and three English databases were retrieved to identify systematic reviews and Meta-analysis on the efficacy and safety of Shuxuening Injection in the treatment of diseases. The AMSTAR 2( a measurement tool to assess systematic reviews 2) tool was used to evaluate the methodological quality of the included systematic reviews,and tables were created to present the results of Meta-analyses. Twenty-four systematic reviews were included,all with very low methodological quality. Among the 16 AMSTAR-2 items,only 5 items had a compliance rate greater than 60. 0%,and 8 items had a compliance rate less than 50. 0%. For patients with cerebral infarction,Shuxuening Injection combined with conventional treatment was more effective than conventional treatment alone in terms of clinical efficiency and neurological deficit improvement. For patients with angina pectoris,Shuxuening Injection was superior to Danshen/Compound Danshen Injection in terms of the total effective rate of angina pectoris and total effective rate of ECG. The efficacy of Shuxuening Injection combined with conventional treatment is significantly better than conventional treatment.Shuxuening Injection( alone or combined with conventional treatments) was better than conventional treatments for cerebral hemorrhage,ischemic cerebrovascular disease,chronic pulmonary heart disease,vertigo and sudden deafness. Shuxuening Injection had better efficacy and lower incidence of adverse reactions,but the methodological quality of included systematic reviews was low. The results of this study still need to be verified by high-quality systematic reviews.
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Humanos , Angina Pectoris/tratamento farmacológico , Medicamentos de Ervas Chinesas , Injeções , Salvia miltiorrhiza , Revisões Sistemáticas como AssuntoRESUMO
The pathogenesis of colon cancer (Cca) is to be further investigated. Vitamin D deficiency is associated with cancer growth; the underlying mechanism is unclear. Published data indicate that Cca cells express CD23. This study tests a hypothesis that exposure to IgE induces Cca cell apoptosis. In this study, the effect of ligation of CD23 by IgE on the expression of cyp27b1 was performed with Cca cells. The induction of apoptosis of Cca cells by IgE was assessed in a cell culture model. We observed that Cca cells express CD23; ligation of CD23 with IgE on Cca cells increased the expression of cyp27b1 in Cca, which promoted the conversion of VD3 to calcitriol, the latter increased the expression of FasL by Cca cells, and induced apoptosis of Cca cells. In conclusion, IgE is capable of inducing the cancer cell apoptosis via ligating CD23 and converting VD3 to calcitriol. The results suggest that IgE may have therapeutic potential in the treatment of Cca.