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1.
Virol J ; 21(1): 62, 2024 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-38454522

RESUMO

BACKGROUND: In China, respiratory syncytial virus (RSV) infections traditionally occur during the spring and winter seasons. However, a shift in the seasonal trend was noted in 2020-2022, during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This study investigated the seasonal characteristics of RSV infection in children hospitalized with acute lower respiratory tract infections (ALRTIs). The RSV epidemic season was defined as RSV positivity in > 10% of the hospitalized ALRTI cases each week. Nine RSV seasons were identified between 2013 and 2022, and nonlinear ordinary least squares regression models were used to assess the differences in year-to-year epidemic seasonality trends. RESULTS: We enrolled 49,658 hospitalized children diagnosed with ALRTIs over a 9-year period, and the RSV antigen-positive rate was 15.2% (n = 7,566/49,658). Between 2013 and 2022, the average onset and end of the RSV season occurred in week 44 (late October) and week 17 of the following year, respectively, with a typical duration of 27 weeks. However, at the onset of the COVID-19 pandemic, the usual spring RSV peak did not occur. Instead, the 2020 epidemic started in week 32, and RSV seasonality persisted into 2021, lasting for an unprecedented 87 weeks before concluding in March 2022. CONCLUSIONS: RSV seasonality was disrupted during the COVID-19 pandemic, and the season exhibited an unusually prolonged duration. These findings may provide valuable insights for clinical practice and public health considerations.


Assuntos
COVID-19 , Infecções por Vírus Respiratório Sincicial , Vírus Sincicial Respiratório Humano , Infecções Respiratórias , Criança , Humanos , Lactente , Pandemias , Estações do Ano , China/epidemiologia , COVID-19/epidemiologia
2.
J Insect Sci ; 24(4)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-39023176

RESUMO

Tephritis angustipennis (Diptera: Tephritidae) and Campiglossa loewiana (Diptera: Tephritidae) are phytophagous pests in China. Their damage has significantly impacted the collection and cultivation of germplasm resources of native Asteraceae plants. However, the genetic characteristics and structure of their population are unclear. This study focused on the highly damaging species of T. angustipennis and C. loewiana collected from the three-river source region (TRSR). We amplified the mitochondrial cytochrome C oxidase subunit I (mtCOI) gene sequences of these pests collected from this area and compared them with COI sequences from GenBank. We also analyzed their genetic diversity and structure. In T. angustipennis, 5 haplotypes were identified from 5 geographic locations; the genetic differentiation between France population FRPY (from Nylandia, Uusimaa) and China populations GLJZ (from Dehe Longwa Village, Maqin County), GLDR (from Zhique Village, Dari County), and GLMQ (from Rijin Village, Maqin County) was the strongest. GLJZ exhibited strong genetic differentiation from GLDR and GLMQ, with relatively low gene flow. For C. loewiana, 11 haplotypes were identified from 5 geographic locations; the genetic differentiation between the Chinese population GLMQ-YY (from Yangyu Forest Farm, Maqin County) and Finnish population FDNL (from Nylandia, Uusimaa) was the strongest, with relatively low gene flow, possibly due to geographical barriers in the Qinghai-Tibet plateau. Only 1 haplotype was identified across GLDR, GLMQ, and GLBM. High gene flow between distant locations indicates that human activities or wind dispersal may facilitate the dispersal of fruit flies and across different geographic. Geostatistical analysis suggested a recent population expansion of these 2 species in TRSR. Our findings provide technical references for identifying pests in the TRSR region and theoretical support for managing resistance, monitoring pest occurrences, analyzing environmental adaptability, and formulating biological control strategies for Tephritidae pests on Asteraceae plants.


Assuntos
Código de Barras de DNA Taxonômico , Complexo IV da Cadeia de Transporte de Elétrons , Variação Genética , Tephritidae , Animais , Tephritidae/genética , China , Complexo IV da Cadeia de Transporte de Elétrons/genética , Haplótipos , Filogenia , Proteínas de Insetos/genética
3.
Int J Mol Sci ; 24(5)2023 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-36901990

RESUMO

Clinically, thyroid-related diseases such as endemic iodine deficiency and congenital hypothyroidism are associated with hearing loss, suggesting that thyroid hormones are essential for the development of normal hearing. Triiodothyronine (T3) is the main active form of thyroid hormone and its effect on the remodeling of the organ of Corti remain unclear. This study aims to explore the effect and mechanism of T3 on the remodeling of the organ of Corti and supporting cells development during early development. In this study, mice treated with T3 at postnatal (P) day 0 or P1 showed severe hearing loss with disordered stereocilia of the outer hair cells (OHCs) and impaired function of mechanoelectrical transduction of OHCs. In addition, we found that treatment with T3 at P0 or P1 resulted in the overproduction of Deiter-like cells. Compared with the control group, the transcription levels of Sox2 and notch pathway-related genes in the cochlea of the T3 group were significantly downregulated. Furthermore, Sox2-haploinsufficient mice treated with T3 not only showed excess numbers of Deiter-like cells but also a large number of ectopic outer pillar cells (OPCs). Our study provides new evidence for the dual roles of T3 in regulating both hair cells and supporting cell development, suggesting that it is possible to increase the reserve of supporting cells.


Assuntos
Perda Auditiva , Órgão Espiral , Animais , Camundongos , Tri-Iodotironina , Células Ciliadas Auditivas Externas , Cóclea , Hormônios Tireóideos
4.
BMC Gastroenterol ; 22(1): 37, 2022 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-35090390

RESUMO

BACKGROUND: Noninvasive diagnostic technologies that can dynamically monitor changes in liver inflammation are highly important for the management of chronic hepatitis B (CHB) patients and thus warrant further exploration. This study assessed the diagnostic efficacy of FibroScan for liver inflammation in CHB patients. METHODS: A total of 1185 patients were selected, and ultrasound-guided liver biopsy was performed within 1 month after the FibroScan test. The liver stiffness measurement (LSM), the reliability criteria (IQR/M) of LSM, the quality of liver biopsy (complete portal area, PA), and the liver inflammation grades were the main observation items of this study. With liver biopsy as the control, the diagnostic efficacy of FibroScan for liver inflammation in CHB patients was evaluated by receiver operating characteristic (ROC) curve analysis. RESULTS: The grade of liver inflammation was positively correlated with the stage of fibrosis (rho = 0.829, P < 0.001). Different grades of inflammation will have significant rise in LSM values within the same fibrosis stage, and LSM values were positively correlated with liver inflammation grade and fibrosis stage, and the rho is 0.579 and 0.593 respectively (P < 0.001). Significant differences in the LSM of FibroScan were observed among different grades of liver inflammation (P < 0.0001). Liver biopsy (PA > 10) served as the control, and the cutoff point and the area under ROC curves (AUCs) of the LSMs for different inflammation grades were as follows: G2, 8.6 kPa, 0.775; G3 9.8 kPa, 0.818; and G4, 11.0 kPa; 0.832. With LSM cutoff values of 8.6 kPa, 9.8 kPa and 11.0 kPa, FibroScan showed certain diagnostic value for CHB patients with G2, G3 and G4 liver inflammation, especially those with G4 inflammation. CONCLUSIONS: The grade of liver inflammation was positively correlated with the stage of fibrosis, different grades of inflammation will have significant rise in LSM values within the same fibrosis stage. In addition to liver fibrosis, FibroScan could evaluate liver inflammation in CHB patients in a noninvasive manner.


Assuntos
Hepatite B Crônica , Biópsia , Hepatite B Crônica/complicações , Humanos , Inflamação/diagnóstico por imagem , Reprodutibilidade dos Testes
5.
Int J Mol Sci ; 23(21)2022 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-36362134

RESUMO

Different serum thyroxine levels may influence the morphology of the inner ear during development. A well-developed organ of Corti (OC) is considered to be critical to the function of hearing. In our study, we treated mice with triiodothyronine (T3) and found that the opening of the OC occurred sooner than in control mice. We also observed an increased formation of acetylated microtubules and a decrease in the adhesion junction molecule P-cadherin the during opening of the OC. Our investigation indicates that thyroxin affects P-cadherin expression and microtubule acetylation to influence the opening of the OC.


Assuntos
Orelha Interna , Tiroxina , Camundongos , Animais , Tiroxina/farmacologia , Tiroxina/metabolismo , Microtúbulos/metabolismo , Órgão Espiral/metabolismo , Caderinas/genética , Caderinas/metabolismo
6.
Aesthet Surg J ; 42(6): 567-579, 2022 05 18.
Artigo em Inglês | MEDLINE | ID: mdl-34791018

RESUMO

BACKGROUND: Few clinical studies on robot-assisted surgery (RAS) for mandibular contouring have been reported. OBJECTIVES: The aim of this study was to follow the long-term effectiveness and safety of RAS for craniofacial bone surgery. METHODS: This small-sample, early-phase, prospective, randomized controlled study included patients diagnosed with mandibular deformity requiring mandibular contouring surgery. Patients of both genders aged 18 to 30 years without complicated craniofacial repair defects were enrolled and randomly assigned in a 1:1 ratio by a permuted-block randomized assignments list generated by the study statistician. The primary outcomes were the positioning accuracy and accuracy of the osteotomy plane angle 1 week after surgery. Surgical auxiliary measurement index, patient satisfaction scale, surgical pain scale, perioperative period, and complications at 1 week, 1 month, and 6 months after surgery were also analyzed. RESULTS: One patient was lost to follow-up, resulting in a total of 14 patients in the traditional surgery group and 15 in the robot-assisted group (mean [standard deviation] age, 22.65 [3.60] years). Among the primary outcomes, there was a significant difference in the positioning accuracy (2.91 mm vs 1.65 mm; P < 0.01) and angle accuracy (13.26º vs 4.85º; P < 0.01) between the 2 groups. Secondary outcomes did not significantly differ. CONCLUSIONS: Compared to traditional surgery, robot-assisted mandibular contouring surgery showed improved precision in bone shaving, as well as higher safety.


Assuntos
Procedimentos Cirúrgicos Robóticos , Robótica , Adulto , Feminino , Humanos , Masculino , Mandíbula/cirurgia , Estudos Prospectivos , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Procedimentos Cirúrgicos Robóticos/métodos , Resultado do Tratamento , Adulto Jovem
7.
Zhongguo Yi Liao Qi Xie Za Zhi ; 46(4): 399-403, 2022 Jul 30.
Artigo em Chinês | MEDLINE | ID: mdl-35929154

RESUMO

In order to improve the operation difficulties in the narrow space of the nasal maxillary sinus, the nasal continuum minimally invasive surgical robot system is designed. The ball-and-socket joints and NiTiNol tubes are used as the main body of the continuum structure to improve the degree of freedom. The hardware systems and software systems are designed. The security control policies are planned. Finally, the robot confirmed prototype experiments are conducted and the feasibility of continuum robot confirmed through master-slave control experiment and animal experiment.


Assuntos
Procedimentos Cirúrgicos Robóticos , Robótica , Animais , Fenômenos Biomecânicos , Desenho de Equipamento , Procedimentos Cirúrgicos Minimamente Invasivos , Software
8.
J Med Virol ; 93(8): 4846-4855, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33565614

RESUMO

To understand host-pathogen interactions and develop effective prevention and control strategies for human adenovirus (HAdV), it is essential to explore the characteristics of HAdV shedding. Hospitalized children <14 years who had severe HAdV pneumonia were tested for HAdV DNA by quantitative real-time PCR in nasopharyngeal aspirate (NPA). A total of 132 children were enrolled, including 102 patients with HAdV type 7 (HAdV-7) infection and 12 patients with HAdV type 3 (HAdV-3) infection. A total of 1372 qualified NPA samples were collected. There was a significant negative correlation between the viral load of HAdV and the course of the disease (Spearman r = -0.547, p = .000). HAdV-7 load decreased at a rate of 0.089 log10 copies/mL per day (95% CI: -0.096 to -0.081; R 2 = 0.332), and the duration of viral shedding was predicted to be 96.9 days (y = 8.624-0.089x). However, HAdV-3 load decreased more quickly (95% CI: - 0.229 to - 0.143; R 2 = 0.403), and the duration of viral shedding was 51.4 days (y = 9.558-0.186x). The median viral load of the HAdV-7 group at weeks 2 and 3, and more than 3 weeks postinfection was higher than that of the HAdV-3 group. No significant differences in the duration of viral shedding were found in different gender, age (>2 vs. ≤2 years), and with or without underlying diseases groups. Viral shedding in children with severe HAdV pneumonia persisted, among which HAdV-7 lasted longer than 3 months and the viral load decreased slowly than HAdV-3.


Assuntos
Infecções por Adenovirus Humanos/virologia , Adenovírus Humanos/fisiologia , Pneumonia Viral/virologia , Eliminação de Partículas Virais , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Cinética , Masculino , Nasofaringe/virologia , Sorogrupo , Carga Viral
9.
Virol J ; 18(1): 238, 2021 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-34847913

RESUMO

PURPOSE: To evaluate viral loads in children with human adenovirus (HAdV) pneumonia at different stages of disease and compare the viral load between upper and lower respiratory tract samples. METHODS: We prospectively enrolled children who required invasive ventilation for HAdV pneumonia. Nasopharyngeal aspirate (NPA) and tracheal aspirate (TA) samples were collected throughout the entire period of invasive ventilation. Viral detection and quantification were performed using quantitative real-time polymerase chain reaction. RESULTS: Ninety-four children were enrolled. The median age of the children was 12.0 months (IQR: 11.0-24.0), and > ninety percent of patients were aged between 6 and 59 months. Seven hundred and nine paired NPA-TA samples were collected. The median viral loads of the NPA and TA samples were 7.31 log10 and 7.50 log10 copies/mL, respectively. Viral loads generally decreased steadily over time. The median viral load after 1, 2, 3, and > 3 weeks of the disease course was 8.65, 7.70, 6.69, and 5.09 log10 copies/mL, respectively, in NPA samples and 8.67, 7.79, 7.08, and 5.53 log10 copies/mL, respectively, in TA samples. Viral load showed a significant negative correlation with time since symptom onset in both NPA samples (Spearman r = - 0.607, P = 0.000) and TA samples (Spearman r = - 0.544, P = 0.000). The predicted duration of HAdV shedding was 60.17 days in the NPA group and 65.81 days in the TA group. Viral loads in NPA and TA from the same subjects correlated well with each other (R2 = 0.694). HAdV loads in NPA and TA were most comparable during the early phase of infection (95% limits of agreement, - 1.36 to 1.30 log10 copies/mL, R2 = 0.746). Variation increased during the late phase of infection (i.e., in follow-up samples), with viral loads remaining significantly higher in TA than NPA. CONCLUSIONS: In children with HAdV pneumonia, viral loads in both NPA and TA steadily decreased during the course of the disease, and the predicted duration of viral shedding was more than 2 months. The HAdV DNA load of NPA is highly correlated with that of TA, especially in the initial phase of infection.


Assuntos
Adenovírus Humanos , Ventilação não Invasiva , Pneumonia , Infecções Respiratórias , Adenovírus Humanos/genética , Criança , Pré-Escolar , Humanos , Lactente , Nasofaringe , Carga Viral
10.
Neural Plast ; 2021: 6151973, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34335733

RESUMO

Genetic testing is the gold standard for exploring the etiology of congenital hearing loss. Here, we enrolled 137 Chinese patients with congenital hearing loss to describe the molecular epidemiology by using 127 gene panel testing or 159 variant testing. Sixty-three deaf children received 127 gene panel testing, while seventy-four patients received 159 variant testing. By use of 127 gene panel testing, more mutant genes and variants were identified. The most frequent mutant genes were GJB2, SLC26A4, MYO15A, CDH23, and OTOF. By analyzing the patients who received 127 gene panel testing, we found that 51 deaf children carried variants which were not included in 159 variant testing. Therefore, a large number of patients would be misdiagnosed if only 159 variant testing is used. This study highlights the advantage of 127 gene panel testing, and it suggests that broader genetic testing should be done to identify the genetic etiology of congenital hearing loss.


Assuntos
Surdez/diagnóstico , Testes Genéticos , Perda Auditiva Neurossensorial/diagnóstico , Mutação , Criança , Surdez/genética , Feminino , Perda Auditiva Neurossensorial/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Programas de Rastreamento
11.
Neural Plast ; 2021: 9957712, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34093702

RESUMO

Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss. Using next-generation sequencing combined with auditory tests, two novel compound heterozygous variants c.2802_2812del/c.5681T>C and c.5681T>C/c.6340G>A in the MYO15A gene were identified in probands from two irrelevant Chinese families. Auditory phenotypes of the probands are consistent with the previously reported for recessive variants in the MYO15A gene. The two novel variants, c.2802_2812del and c.5681T>C, were identified as deleterious mutations by bioinformatics analysis. Our findings extend the MYO15A gene mutation spectrum and provide more information for rapid and precise molecular diagnosis of congenital deafness.


Assuntos
Surdez/genética , Miosinas/genética , Adolescente , Povo Asiático , Criança , Pré-Escolar , Biologia Computacional , Surdez/congênito , Surdez/diagnóstico por imagem , Feminino , Genes Recessivos , Testes Genéticos , Testes Auditivos , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Linhagem , Fenótipo , Tomografia Computadorizada por Raios X
12.
J Craniofac Surg ; 32(1): 101-107, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32956317

RESUMO

ABSTRACT: Craniomaxillofacial surgery has the characteristics of complex anatomical structure, narrow surgical field, and easy damage to nerves, blood vessels, and other structures. Compared with the traditional bare-hand operation, robot-assisted craniofacial surgery is expected to achieve a more stable and accurate surgical operation. So we have developed a robot-assisted craniofacial surgery system. A compact mechanism design was adopted for the robot system, integrates with visual and force perception modules. The motion analysis and working space analysis are carried out on the mechanical structure. The binocular vision module is integrated and the robot hand-eye calibration process was completed. The target tracking method based on staple is used to achieve tracking and monitoring of the target area. A distributed robot control system based on CAN bus technology is designed, and a position-based visual servo control method is adopted. Then the precision test of the robot system prototype and the drilling experiment of the 3D printed mandible model were carried out. The average pixel error of the vision module is 0.15 pixels. Based on the staple tracking method, the average center error rate of the image is 0.3175 mm, and the overlap rate is 88.76%. The drilling experiment of the mandible model showed that the average entrance position error is 1.76 ±â€Š0.36 mm, the average target position error is 1.62 ±â€Š0.27 mm, and the angle error is 5.36 ±â€Š0.31 degrees. The designed craniofacial robot system can better assist surgeons to complete the mandibular osteotomy.


Assuntos
Procedimentos Cirúrgicos Robóticos , Robótica , Humanos , Mandíbula , Osteotomia Mandibular
13.
J Craniofac Surg ; 32(3): 925-930, 2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-33278250

RESUMO

ABSTRACT: To evaluate the feasibility, safety, and accuracy of the new man-machine interactive robotic system in model experiment. The implantation of the 8 to 10 bone screws over the skull model obtained from real patient's digital imaging and communications in medicine (DICOM), three-dimensional spiral computed tomography (CT) scans were taken. The end of the robotic arm was replaced with standard parts (including marker ball) for cone beam computed tomography (CBCT) scanning. The marker ball and marker pin were segmented and marked and exported via txt format. The position of the robotic end and model was obtained through the conversion of spacious position of standard parts and the executive end was replaced eventually. The water balloon was placed inside the skull model to imitate the dura mater and the destruction was documented for the system's safety. The system accuracy was evaluated by the error between the actual drilling position and the virtual plan and selection of 14 points of the skull window of milling pathway, monitored intraoperatively via Micron Tracker system and the overall skull window overlapped percentage via Mimics. Five model experiments were successfully performed with the average registration time of 3 minutes without destruction of balloon. The error of the outer table was 0.85 ±â€Š0.45 mm, the inner table was 0.78 ±â€Š0.49 mm, the line segment error of milling cutter was 0.93 ±â€Š0.50 mm and the overall skull window overlapped percentage was 97.37% ±â€Š0.78%. The system shows safety, accuracy, and reliability which can be an optional assistant method for craniotomy in the future.


Assuntos
Robótica , Tomografia Computadorizada de Feixe Cônico , Craniotomia , Humanos , Imageamento Tridimensional , Reprodutibilidade dos Testes , Crânio/cirurgia
14.
Sensors (Basel) ; 21(9)2021 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-33922079

RESUMO

In the medical field, guidance to follow the surgical plan is crucial. Image overlay projection is a solution to link the surgical plan with the patient. It realizes augmented reality (AR) by projecting computer-generated image on the surface of the target through a projector, which can visualize additional information to the scene. By overlaying anatomical information or surgical plans on the surgery area, projection helps to enhance the surgeon's understanding of the anatomical structure, and intuitively visualizes the surgical target and key structures of the operation, and avoid the surgeon's sight diversion between monitor and patient. However, it still remains a challenge to project the surgical navigation information on the target precisely and efficiently. In this study, we propose a projector-based surgical navigation system. Through the gray code-based calibration method, the projector can be calibrated with a camera and then be integrated with an optical spatial locator, so that the navigation information of the operation can be accurately projected onto the target area. We validated the projection accuracy of the system through back projection, with average projection error of 3.37 pixels in x direction and 1.51 pixels in y direction, and model projection with an average position error of 1.03 ± 0.43 mm, and carried out puncture experiments using the system with correct rate of 99%, and qualitatively analyzed the system's performance through the questionnaire. The results demonstrate the efficacy of our proposed AR system.


Assuntos
Realidade Aumentada , Cirurgia Assistida por Computador , Calibragem , Humanos , Imageamento Tridimensional , Imagens de Fantasmas , Interface Usuário-Computador
15.
Sensors (Basel) ; 21(14)2021 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-34300637

RESUMO

This paper proposes a privacy-preserving energy management of a shared energy storage system (SESS) for multiple smart buildings using federated reinforcement learning (FRL). To preserve the privacy of energy scheduling of buildings connected to the SESS, we present a distributed deep reinforcement learning (DRL) framework using the FRL method, which consists of a global server (GS) and local building energy management systems (LBEMSs). In the framework, the LBEMS DRL agents share only a randomly selected part of their trained neural network for energy consumption models with the GS without consumer's energy consumption data. Using the shared models, the GS executes two processes: (i) construction and broadcast of a global model of energy consumption to the LBEMS agents for retraining their local models and (ii) training of the SESS DRL agent's energy charging and discharging from and to the utility and buildings. Simulation studies are conducted using one SESS and three smart buildings with solar photovoltaic systems. The results demonstrate that the proposed approach can schedule the charging and discharging of the SESS and an optimal energy consumption of heating, ventilation, and air conditioning systems in smart buildings under heterogeneous building environments while preserving the privacy of buildings' energy consumption.


Assuntos
Calefação , Privacidade , Simulação por Computador , Redes Neurais de Computação , Ventilação
16.
Appl Energy ; 286: 116354, 2021 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-33551539

RESUMO

Starting in early 2020, the novel coronavirus disease (COVID-19) severely attached the U.S., causing substantial changes in the operations of bulk power systems and electricity markets. In this paper, we develop a data-driven analysis to substantiate the pandemic's impacts from the perspectives of power system security, electric power generation, electric power demand and electricity prices. Our results suggest that both electric power demand and electricity prices have discernibly dropped during the COVID-19 pandemic. Geographically diverse impacts are observed and quantified, while the bulk power systems and markets in the northeast region are most severely affected. All the data sources, assessment criteria, and analysis codes reported in this paper are available on a GitHub repository.

17.
Neural Plast ; 2020: 9260807, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32908492

RESUMO

Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2-5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 can cause corresponding types of WS. Among them, SOX10 mutation is responsible for approximately 15% of type II WS or 50% of type IV WS. We report the case of a proband in a Chinese family who was diagnosed with WS type II. Whole exome sequencing (WES) of the proband detected a novel heterozygous spontaneous mutation: SOX10 c.246delC. According to analysis based on nucleic acid and amino acid sequences, this mutation may produce a truncated protein, with loss of the HMG structure domain. Therefore, this truncated protein may fail to activate the expression of the MITF gene, which regulates melanocytic development and plays a key role in WS. Our finding expands the database of SOX10 mutations associated with WS and provides more information regarding the molecular mechanism of WS.


Assuntos
Mutação , Fatores de Transcrição SOXE/genética , Síndrome de Waardenburg/genética , Povo Asiático/genética , Criança , China , Humanos , Masculino , Linhagem , Sequenciamento do Exoma
18.
Neural Plast ; 2020: 3569359, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32508908

RESUMO

Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However, exceed 25% of JLNS patients suffered sudden cardiac death with kinds of triggers containing anesthesia. Approximately 90% of JLNS cases are caused by KCNQ1 gene mutations. Here, using next-generation sequencing (NGS), we identified a compound heterozygosity for two mutations c.1741A>T (novel) and c.477+5G>A (known) in KCNQ1 gene as the possible pathogenic cause of JLNS, which suggested a high risk of cardiac events in a deaf child. The hearing of this patient improved significantly with the help of cochlear implantation (CI). But life-threatening arrhythmias occurred with a trigger of anesthesia after the end of the CI surgery. Our findings extend the KCNQ1 gene mutation spectrum and contribute to the management of deaf children diagnosed with JLNS for otolaryngologists (especially cochlear implant teams).


Assuntos
Síndrome de Jervell-Lange Nielsen/genética , Canal de Potássio KCNQ1/genética , Mutação , Povo Asiático , Pré-Escolar , China , Análise Mutacional de DNA , Surdez/genética , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Síndrome de Jervell-Lange Nielsen/fisiopatologia , Masculino , Linhagem
19.
J Craniofac Surg ; 31(2): 393-396, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31842079

RESUMO

Optical navigation method cannot be used in partial craniofacial surgery due to light blocking. At present, electromagnetic navigation method can be used instead. The occlusal splint obtained from the patient's dental mold is used in the traditional electromagnetic navigation registration. Then, marker points are selected manually for registration through imaging data during the operation, which leads to the deviation of selection. In this study, the self-developed registration software was used to perform automatic registration in the intraoperative registration. Experimental results showed that it has higher accuracy and faster speed, and is suitable for the actual operation process in clinical environment compared with the traditional manual registration.


Assuntos
Fenômenos Eletromagnéticos , Contenções , Cirurgia Assistida por Computador/instrumentação , Humanos , Imageamento Tridimensional/métodos , Arcada Osseodentária , Placas Oclusais , Software , Cirurgia Assistida por Computador/métodos
20.
J Craniofac Surg ; 31(2): 377-380, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31764554

RESUMO

Virtual simulation surgical system is a good way to develop surgical instruments, make surgical plan, and train surgeons. At present, due to the deformation of intraoperative soft tissue after retraction and the lack of effective data collection, the surgical simulation of facial contour surgery can only be conducted according to the preoperative computed tomography data. Due to the difficulty of obtaining real operative spatial data, it is difficult for the virtual surgery trajectory planning process to yield a good effect on surgeon training. In this study, an optical tracking device was used to record the actual posture of surgical instruments, patient position, and incision space in the surgical environment, so as to construct a more accurate actual surgical space. The clinical data obtained in this study can be used for virtual simulation of surgical instrument movement and osteotomy, as well as selection, planning, and teaching purposes of surgical programs.


Assuntos
Procedimentos Cirúrgicos Bucais/métodos , Cirurgia Assistida por Computador/instrumentação , Tomografia Computadorizada por Raios X , Simulação por Computador , Humanos , Procedimentos Cirúrgicos Bucais/instrumentação , Cirurgia Assistida por Computador/métodos , Interface Usuário-Computador
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