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1.
Mil Med Res ; 11(1): 46, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38992778

RESUMO

BACKGROUND: Subarachnoid hemorrhage (SAH) is a subtype of hemorrhagic stroke characterized by high mortality and low rates of full recovery. This study aimed to investigate the epidemiological characteristics of SAH between 1990 and 2021. METHODS: Data on SAH incidence, mortality, and disability-adjusted life-years (DALYs) from 1990 to 2021 were obtained from the Global Burden of Disease Study (GBD) 2021. Estimated annual percentage changes (EAPCs) were calculated to evaluate changes in the age-standardized rate (ASR) of incidence and mortality, as well as trends in SAH burden. The relationship between disease burden and sociodemographic index (SDI) was also analyzed. RESULTS: In 2021, the incidence of SAH was found to be 37.09% higher than that in 1990; however, the age-standardized incidence rates (ASIRs) showed a decreased [EAPC: -1.52; 95% uncertainty interval (UI) -1.66 to -1.37]. Furthermore, both the number and rates of deaths and DALYs decreased over time. It was observed that females had lower rates compared to males. Among all regions, the high-income Asia Pacific region exhibited the highest ASIR (14.09/100,000; 95% UI 12.30/100,000 - 16.39/100,000) in 2021, with an EPAC for ASIR < 0 indicating decreasing trend over time for SAH ASIR. Oceania recorded the highest age-standardized mortality rates (ASMRs) and age-standardized DALYs rates among all regions in 2021 at values of respectively 8.61 (95% UI 6.03 - 11.95) and 285.62 (95% UI 209.42 - 379.65). The burden associated with SAH primarily affected individuals aged between 50 - 69 years old. Metabolic risks particularly elevated systolic blood pressure were identified as the main risk factors contributing towards increased disease burden associated with SAH when compared against environmental or occupational behavioral risks evaluated within the GBD framework. CONCLUSIONS: The burden of SAH varies by gender, age group, and geographical region. Although the ASRs have shown a decline over time, the burden of SAH remains significant, especially in regions with middle and low-middle SDI levels. High systolic blood pressure stands out as a key risk factor for SAH. More specific supportive measures are necessary to alleviate the global burden of SAH.


Assuntos
Carga Global da Doença , Hemorragia Subaracnóidea , Humanos , Hemorragia Subaracnóidea/epidemiologia , Masculino , Feminino , Incidência , Pessoa de Meia-Idade , Idoso , Adulto , Carga Global da Doença/tendências , Anos de Vida Ajustados por Deficiência/tendências , Saúde Global/estatística & dados numéricos , Idoso de 80 Anos ou mais
2.
Se Pu ; 42(7): 711-720, 2024 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-38966979

RESUMO

Protein citrullination is an irreversible post-translational modification process regulated by peptidylarginine deiminases (PADs) in the presence of Ca2+. This process is closely related to the occurrence and development of autoimmune diseases, cancers, neurological disorders, cardiovascular and cerebrovascular diseases, and other major diseases. The analysis of protein citrullination by biomass spectrometry confronts great challenges owing to its low abundance, lack of affinity tags, small mass-to-charge ratio change, and susceptibility to isotopic and deamidation interferences. The methods commonly used to study the protein citrullination mainly involve the chemical derivatization of the urea group of the guanine side chain of the peptide to increase the mass-to-charge ratio difference of the citrullinated peptide. Affinity-enriched labels are then introduced to effectively improve the sensitivity and accuracy of protein citrullination by mass spectrometry. 2,3-Butanedione or phenylglyoxal compounds are often used as derivatization reagents to increase the mass-to-charge ratio difference of the citrullinated peptide, and the resulting derivatives have been observed to contain α-dicarbonyl structures. To date, however, no relevant studies on the reactivity of dicarbonyl compounds with citrullinated peptides have been reported. In this study, we determined whether six α-dicarbonyl and two ß-dicarbonyl compounds undergo derivatization reactions with standard citrullinated peptides using matrix-assisted laser desorption ionization-time-of-flight mass spectrometry (MALDI-TOF MS). Among the α-dicarbonyl compounds, 2,3-butanedione and glyoxal reacted efficiently with several standard citrullinated peptides, but yielded a series of by-products. Phenylglyoxal, methylglyoxal, 1,2-cyclohexanedione, and 1,10-phenanthroline-5,6-dione also derivated efficiently with standard citrullinated peptides, generating a single derivative. Thus, a new derivatization method that could yield a single derivative was identified. Among the ß-dicarbonyl compounds, 1,3-cyclohexanedione and 2,4-pentanedione successfully reacted with the standard citrullinated peptides, and generated a single derivative. However, their reaction efficiency was very low, indicating that the ß-dicarbonyl compounds are unsuitable for the chemical derivatization of citrullinated peptides. The above results indicate that the α-dicarbonyl structure is necessary for realizing the efficient and specific chemical derivatization of citrullinated peptides. Moreover, the side chains of the α-dicarbonyl structure determine the structure of the derivatives, derivatization efficiency, and generation (or otherwise) of by-products. Therefore, the specific enrichment and precise identification of citrullinated peptides can be achieved by synthesizing α-dicarbonyl structured compounds containing affinity tags. The proposed method enables the identification of citrullinated proteins and their modified sites by MS, thereby providing a better understanding of the distribution of citrullinated proteins in different tissues. The findings will be beneficial for studies on the mechanism of action of citrullinated proteins in a variety of diseases.


Assuntos
Citrulinação , Peptídeos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Peptídeos/química
3.
Med Image Anal ; 96: 103208, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38788327

RESUMO

General movement and pose assessment of infants is crucial for the early detection of cerebral palsy (CP). Nevertheless, most human pose estimation methods, in 2D or 3D, focus on adults due to the lack of large datasets and pose annotations on infants. To solve these problems, here we present a model known as YOLO-infantPose, which has been fine-tuned, for infant pose estimation in 2D. We further propose a self-supervised model called STAPose3D for 3D infant pose estimation based on videos. We employ multi-view video data during the training process as a strategy to address the challenge posed by the absence of 3D pose annotations. STAPose3D combines temporal convolution, temporal attention, and graph attention to jointly learn spatio-temporal features of infant pose. Our methods are summarized into two stages: applying YOLO-infantPose on input videos, followed by lifting these 2D poses along with respective confidences for every joint to 3D. The employment of the best-performing 2D detector in the first stage significantly improves the precision of 3D pose estimation. We reveal that fine-tuned YOLO-infantPose outperforms other models tested on our clinical dataset as well as two public datasets MINI-RGBD and YouTube-Infant dataset. Results from our infant movement video dataset demonstrate that STAPose3D effectively comprehends the spatio-temporal features among different views and significantly improves the performance of 3D infant pose estimation in videos. Finally, we explore the clinical application of our method for general movement assessment (GMA) in a clinical dataset annotated as normal writhing movements or abnormal monotonic movements according to the GMA standards. We show that the 3D pose estimation results produced by our STAPose3D model significantly boost the GMA prediction performance than 2D pose estimation. Our code is available at github.com/wwYinYin/STAPose3D.


Assuntos
Imageamento Tridimensional , Postura , Gravação em Vídeo , Humanos , Lactente , Imageamento Tridimensional/métodos , Postura/fisiologia , Paralisia Cerebral/diagnóstico por imagem , Paralisia Cerebral/fisiopatologia , Algoritmos , Aprendizado de Máquina Supervisionado
4.
Urol Oncol ; 42(5): 158.e17-158.e27, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38388243

RESUMO

BACKGROUND: The Prostate Imaging Reporting and Data System (PI-RADS) is an established reporting scheme for multiparametric magnetic resonance imaging (mpMRI) to distinguish clinically significant prostate cancer (csPCa). Deep learning (DL) holds great potential for automating csPCa classification on mpMRI. METHOD: To compare the performance between a DL algorithm and PI-RADS categorization in PCa detection and csPCa classification, we included 1,729 consecutive patients who underwent radical prostatectomy or biopsy in Tongji hospital. We developed DL models by integrating individual mpMRI sequences and employing an ensemble approach for distinguishing between csPCa and CiSPCa (specifically defined as PCa with a Gleason group 1 or benign prostate disease, training cohort: 1,285 patients vs. external testing cohort: 315 patients). RESULTS: DL-based models exhibited higher csPCa detection rates than PI-RADS categorization (area under the curve [AUC]: 0.902; sensitivity: 0.728; specificity: 0.906 vs. AUC: 0.759; sensitivity: 0.761; specificity: 0.756) (P < 0.001) Notably, DL networks exhibited significant strength in the prostate-specific antigen (PSA) arm < 10 ng/ml compared with PI-RADS assessment (AUC: 0.788; sensitivity: 0.588; specificity: 0.883 vs. AUC: 0.618; sensitivity: 0.379; specificity: 0.763) (P = 0.041). CONCLUSIONS: We developed DL-based mpMRI ensemble models for csPCa classification with improved sensitivity, specificity, and accuracy compared with clinical PI-RADS assessment. In the PSA-stratified condition, the DL ensemble model performed better than PI-RADS in the detection of csPCa in both the high PSA group and the low PSA group.


Assuntos
Aprendizado Profundo , Imageamento por Ressonância Magnética Multiparamétrica , Neoplasias da Próstata , Masculino , Humanos , Neoplasias da Próstata/patologia , Antígeno Prostático Específico , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Biópsia Guiada por Imagem/métodos
5.
J Craniofac Surg ; 2023 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-37994855

RESUMO

OBJECTIVE: This study aimed to determine the silicone tube intubation requirement for endoscopic dacryocystorhinostomy (En-DCR) in patients with acute dacryocystitis (AD) with acquired skin fistulization. METHODS: Between September 2012 and October 2020, patients with AD and acquired skin fistulization undergoing En-DCR at the Eye Hospital of Wenzhou Medical University were randomized into treatment groups in which silicone tube intubation was carried out or not (groups A and B, respectively). All patients with skin fistulae present for 1+ months at En-DCR underwent fistulectomy. Operative success was assessed at 12 months post En-DCR in both treatment groups. Multiple logistic analyses were performed to assess for influencing factors on surgical success. RESULTS: This study evaluated 94 patients for whom complete postoperative data were available, including 45 in group A and 44 in group B. Overall, 15 patients underwent fistulectomy and En-DCR simultaneously (8 from group A; 7 from group B ). At 12-month follow-up, anatomic and functional success rates were higher for patients in group A (93.3%, 86.7%) relative to those in group B (77.3%, 68.2%) (P<0.05). Intranasal ostium obstruction caused lacrimal passage reconstruction failure in group A. In contrast, intranasal ostium and canalicular obstruction caused it in patients in group B. No significant variations in operation success rates across groups were seen when group B cases with canalicular obstruction were eliminated from the analyses (P=0.070, >0.05). Multiple logistic regression analysis showed operative success was significantly influenced by fistulectomy (OR: 1.641, P<0.05) and intubation (OR: -1.559, P<0.05). CONCLUSION: These findings imply that in patients with AD with skin fistulization undergoing En-DCR, intraoperative intubation is linked with a lower incidence of canalicular obstruction and positive outcomes. Accordingly, intraoperative intubation should be performed when operating on patients with AD with skin fistulization.

6.
Brain Sci ; 13(1)2023 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-36672071

RESUMO

Objective: To explore the characteristics and dynamic evolution of cognitive impairment in patients with neuromyelitis optica spectrum disorder (NMOSD). Methods: Twenty-five patients with acute NMOSD and 30 age-matched healthy individuals were consecutively recruited in this study. The Montreal Cognitive Assessment (MoCA), Chinese Version of Rey Auditory Vocabulary Learning Test (CRAVLT), Verbal Fluency Test (VFT), Digital Span Test (DST), Paced Auditory Serial Addition Task 3/2s version (PASAT-3/2), Rey−Osterrieth Complex Figure Test (ROCF) and Stroop Color and Word Test (CWT) were used to evaluate cognitive function. The correlations between cognitive function and serum aquaporin-4 (AQP-4) antibody titer were analyzed. Results: Sixty-four percent of patients with acute NMOSD had cognitive dysfunction. MoCA (p < 0.001), CRAVLT-N7 (p = 0.004), CRAVLT-N8 (p = 0.011), ROCF-C (p = 0.005), ROCF-R (p < 0.001), PASAT-3 (p = 0.013), PASAT-2 (p = 0.001) and CWT-A (p = 0.017) were significantly worse in patients with acute NMOSD than those in control group. During follow-up visits, significant differences of serum AQP-4 antibody titers were still noted in NMOSD patients (p < 0.001), while no significant differences were found by MoCA. Conclusion: A high number of patients with acute NMOSD suffer from cognitive dysfunction. Serum AQP-4 antibody titers can decrease during disease remission, while obvious cognitive decline in these patients still exists.

7.
J Clin Invest ; 133(3)2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36472910

RESUMO

Pain signals are relayed to the brain via a nociceptive system, and in rare cases, this nociceptive system contains genetic variants that can limit the pain response. Here, we questioned whether a human transient receptor potential vanilloid 1 (TRPV1) missense variant causes a resistance to noxious stimuli and, further, whether we could target this region with a cell-permeable peptide as a pain therapeutic. Initially using a computational approach, we identified a human K710N TRPV1 missense variant in an otherwise highly conserved region of mammalian TRPV1. After generating a TRPV1K710N-knockin mouse using CRISPR/Cas9, we discovered that the K710N variant reduced capsaicin-induced calcium influx in dorsal root ganglion neurons. The TRPV1K710N rodents also had less acute behavioral responses to noxious chemical stimuli and less hypersensitivity to nerve injury, while their response to noxious heat remained intact. Furthermore, blocking this K710 region in WT rodents using a cell-penetrating peptide limited acute behavioral responses to noxious stimuli and returned pain hypersensitivity induced by nerve injury to baseline levels. These findings identify K710 TRPV1 as a discrete site that is crucial for the control of nociception and provide insights into how to leverage rare genetic variants in humans to uncover fresh strategies for developing pain therapeutics.


Assuntos
Roedores , Canais de Cátion TRPV , Animais , Humanos , Camundongos , Capsaicina/farmacologia , Gânglios Espinais , Dor/genética , Limiar da Dor , Canais de Cátion TRPV/genética
8.
J Coll Physicians Surg Pak ; 32(12): 1581-1585, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36474379

RESUMO

OBJECTIVE: To compare the outcomes of congenital nasolacrimal duct obstruction (CNLDO) patients undergoing nasolacrimal duct obstruction (NLD) probing in whom momentary probe indwelling was and was not performed. STUDY DESIGN: Randomised controlled trial. PLACE AND DURATION OF STUDY:  Department of Orbital and Oculoplastic Surgery, Eye Hospital, Wenzhou Medical University, Wenzhou, China, from June 1, 2021, to January 30, 2022. METHODOLOGY: Two hundred and four patients with CNLDO (217 eyes) were enrolled and underwent NLD probing. These patients were randomly assigned to undergo NLD probing with or without momentary probe indwelling. Specifically, no indwelling was performed for patients in Group A, whereas probe indwelling for 5 minutes was performed for patients in Group B. Patients were additionally separated into simple and complex CNLDO groups based on intraoperative exploration results. Preoperative characteristics, success rates, and procedure-related complications were compared among these patient groups, with the shortest follow-up time point being 6 months. RESULTS: In total, 205 eyes from 192 patients were included in the final study analyses. The respective success rates in Groups A and B were 92.08% and 94.23%, respectively (p = 0.541). The success rates for simple CNLDO procedures in Groups A and B were 97.65% and 96.43%, respectively (p = 0.640), whereas for complex CNLDO procedures these success rates were 62.50% and 85.00% (p = 0.146). Age, unilateral or bilateral disease, and prior dacryocyst massage were not found to be associated with the risk of operative failure. CONCLUSION: While NLD probing is a beneficial treatment for children affected by CNLDO that is associated with satisfactory outcomes, momentary probe indwelling did not confer any additional benefits and is thus likely to be unnecessary. KEY WORDS: Congenital nasolacrimal duct obstruction, Nasolacrimal duct probing, Indwelling time.


Assuntos
Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Criança , Humanos , China , Obstrução dos Ductos Lacrimais/terapia , Ducto Nasolacrimal/cirurgia , Universidades
9.
Front Cardiovasc Med ; 9: 1015540, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36337869

RESUMO

Introduction: Persistent left superior vena cava (PLSVC) is the most common form of thoracic venous abnormality. Catheter ablation (CA) for atrial fibrillation (AF) can be complicated by the existence of PLSVC, which could act as an important arrhythmogenic mechanism in AF. Methods and results: We reported a case series of patients with PLSVC who underwent CA for AF at our center between 2018 and 2021. A systematic search was also performed on PubMed, EMBASE, and Web of Science for research reporting CA for AF in patients with PLSVC. Sixteen patients with PLSVC were identified at our center. Ablation targeting PLSVC was performed in 5 patients in the index procedures and in four patients receiving redo procedures. One patient experienced acute procedure failure. After a median follow-up period of 15 months, only 6 (37.5%) patients remained free from AF/atrial tachycardia (AT) after a single procedure. In the systematic review, 11 studies with 167 patients were identified. Based on the included studies, the estimated prevalence of PLSVC in patients undergoing CA for AF was 0.7%. Ablation targeting PLSVC was performed in 121 (74.7%) patients. Major complications in patients with PLSVC receiving AF ablation procedure included four cases of cardiac tamponades (2%), three cases of cardiac effusion (1.5%), one case of ischemic stroke, and three cases of phrenic nerve injury (1.5%) (one left phrenic nerve and two right phrenic nerve). Pooled analysis revealed that after a median follow-up period of 15.6 months (IQR 12.0-74.0 months), the long-term AF/AT-free rate was 70.6% (95% CI 62.8-78.4%, I 2 = 0.0%) (Central illustration). Different ablation strategies for PLSVC were summarized and discussed in the systematic review. Conclusion: In patients with PLSVC, recurrence of atrial arrhythmia after CA for AF is relatively common. Ablation aiming for PLSVC isolation is necessitated in most patients. The overall risk of procedural complications was within an acceptable range.

10.
Plant Genome ; 15(4): e20267, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36281214

RESUMO

The Germplasm Enhancement of Maize (GEM) project was initiated in 1993 as a cooperative effort of public- and private-sector maize (Zea mays L.) breeders to enhance the genetic diversity of the U.S. maize crop. The GEM project selects progeny lines with high topcross yield potential from crosses between elite temperate lines and exotic parents. The GEM project has released hundreds of useful breeding lines based on phenotypic selection within selfing generations and multienvironment yield evaluations of GEM line topcrosses to elite adapted testers. Developing genomic selection (GS) models for the GEM project may contribute to increases in the rate of genetic gain. Here we evaluated the prediction ability of GS models trained on 6 yr of topcross evaluations from the two GEM programs in Raleigh, NC, and Ames, IA, documenting prediction abilities ranging from 0.36 to 0.75 for grain yield and from 0.78 to 0.96 for grain moisture when models were cross-validated within program and heterotic group. Predicted genetic gain from GS ranged from 0.95 to 2.58 times the gain from phenotypic selection. Prediction ability across program and heterotic group was generally poorer than within groups. Based on observed genomic relationships between GEM breeding lines and their tropical ancestors, GS for either yield or moisture would reduce recovery of exotic germplasm only slightly. Using GS models trained within program, the GEM programs should be able to more effectively deliver on its mission to broaden the genetic base of U.S. germplasm.


Assuntos
Melhoramento Vegetal , Zea mays , Zea mays/genética , Genômica , Alelos , Grão Comestível/genética
11.
Acta Pharmacol Sin ; 43(3): 645-658, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33990765

RESUMO

Accumulating evidence indicates that mitochondrial dysfunction and oxidative stress play a pivotal role in the initiation and progression of nonalcoholic fatty liver disease (NAFLD). In this study, we found that blueberry-derived exosomes-like nanoparticles (BELNs) could ameliorate oxidative stress in rotenone-induced HepG2 cells and high-fat diet (HFD)-fed C57BL/6 mice. Preincubation with BELNs decreased the level of reactive oxygen species (ROS), increased the mitochondrial membrane potential, and prevented cell apoptosis by inducing the expression of Bcl-2 and heme oxygenase-1 (HO-1) and decreasing the content of Bax in rotenone-treated HepG2 cells. We also found that preincubation with BELNs accelerated the translocation of Nrf2, an important transcription factor of antioxidative proteins, from the cytoplasm to the nucleus in rotenone-treated HepG2 cells. Moreover, administration of BELNs improved insulin resistance, ameliorated the dysfunction of hepatocytes, and regulated the expression of detoxifying/antioxidant genes by affecting the distribution of Nrf2 in the cytoplasm and nucleus of hepatocytes of HFD-fed mice. Furthermore, BELNs supplementation prevented the formation of vacuoles and attenuated the accumulation of lipid droplets by inhibiting the expression of fatty acid synthase (FAS) and acetyl-CoA carboxylase 1 (ACC1), the two key transcription factors for de novo lipogenesis in the liver of HFD-fed mice. These findings suggested that BELNs can be used for the treatment of NAFLD because of their antioxidative activity.


Assuntos
Produtos Biológicos/farmacologia , Mirtilos Azuis (Planta) , Exossomos/metabolismo , Mitocôndrias/efeitos dos fármacos , Hepatopatia Gordurosa não Alcoólica/patologia , Estresse Oxidativo/efeitos dos fármacos , Acetil-CoA Carboxilase/efeitos dos fármacos , Animais , Apoptose/efeitos dos fármacos , Modelos Animais de Doenças , Ácido Graxo Sintases/efeitos dos fármacos , Heme Oxigenase-1/efeitos dos fármacos , Células Hep G2 , Humanos , Resistência à Insulina/fisiologia , Potencial da Membrana Mitocondrial/efeitos dos fármacos , Camundongos Endogâmicos C57BL , Fator 2 Relacionado a NF-E2/efeitos dos fármacos , Nanopartículas , Proteínas Proto-Oncogênicas c-bcl-2/efeitos dos fármacos , Espécies Reativas de Oxigênio/metabolismo
12.
Accid Anal Prev ; 157: 106155, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34022610

RESUMO

An audio navigation system is a very useful tool for driving path guidance with less distraction. However, the influence of the audio navigation system on driver behavior, especially in complicated road environments, is still not entirely clear. This study aims to investigate navigation prompt timing (NPT), navigation prompt message (NPM), and their combination in an audio navigation system on driving behavior on an urban expressway with five exits. Driving simulator technology was used to reproduce the experimental environment and obtain driver behavior data. Four indicators-speed, standard deviation of speed, absolute values of acceleration, and depth of accelerator-were selected to examine the main and interactive effects of NPT, NPM, and their combination based on repeated measures analysis of variance. The results show that the driver's psychological state and operation of the vehicle on the urban expressway were affected by the prompt timing and messages of the audio navigation system. An interaction effect existed between prompt timing and prompt messages of the system, and this effect adjusted the effect on the driver's psychological state and vehicle operation caused by these two important factors. This study contributes to our understanding of the influence of audio navigation systems on driver behavior in complex road environments and thus lays a foundation for developing standard audio navigation broadcast guidelines to improve drivers' acceptance of navigation systems, reduce drivers' cognitive workload, and improve the level of vehicle operation safety.


Assuntos
Acidentes de Trânsito , Condução de Veículo , Aceleração , Humanos , Equipamentos de Proteção
13.
Ann Clin Transl Neurol ; 8(4): 898-907, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33756069

RESUMO

OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. METHODS: The clinical spectrum, mutational frequency of genes, and pathological diagnostic clues of various subtypes of patients with congenital myasthenic syndrome were summarized. Therapeutic effects were followed up. RESULTS: Thirty-five patients from 29 families were recruited. Ten genes were identified: GFPT1 (27.6%), AGRN (17.2%), CHRNE (17.2%), COLQ (13.8%), GMPPB (6.9%), CHAT, CHRNA1, DOK7, COG7, and SLC25A1 (3.4% each, respectively). Sole limb-girdle weakness was found in patients with AGRN (1/8) and GFPT1 (7/8) mutations, whereas distal weakness was all observed in patients with AGRN (6/8) mutations. Tubular aggregates were only found in patients with GFPT1 mutations (5/6). The patients with GMPPB mutations (2/2) had decreased alpha-dystroglycan. Acetylcholinesterase inhibitor therapy resulted in no response or worsened symptoms in patients with COLQ mutations, a diverse response in patients with AGRN mutations, and a good response in patients with other subtypes. Albuterol therapy was effective or harmless in most subtypes. Therapy effects became attenuated with long-term use in patients with COLQ or AGRN mutations. INTERPRETATION: The genetic distribution of congenital myasthenic syndrome in China is distinct from that of other ethnic origins. The appearance of distal weakness, selective limb-girdle myasthenic syndrome, tubular aggregates, and decreased alpha-dystroglycan were indicative of the specific subtypes. Based on the follow-up findings, we suggest cautious evaluation of the long-term efficacy of therapeutic agents in congenital myasthenic syndrome.


Assuntos
Inibidores da Colinesterase/farmacologia , Músculo Esquelético/patologia , Síndromes Miastênicas Congênitas/genética , Síndromes Miastênicas Congênitas/patologia , Adolescente , Adulto , Criança , Pré-Escolar , China , Feminino , Seguimentos , Humanos , Masculino , Síndromes Miastênicas Congênitas/tratamento farmacológico , Síndromes Miastênicas Congênitas/fisiopatologia , Linhagem , Resultado do Tratamento , Adulto Jovem
14.
J Int Med Res ; 49(2): 300060521992231, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33583245

RESUMO

Paraneoplastic cerebellar degeneration (PCD) is a neurological syndrome that is likely caused by tumor-induced autoimmunity against the cerebellum. Neuroendocrine carcinoma (NEC) is a type of neoplasm with high-grade malignant histology and biological behavior. The prognosis for both PCD and NEC is typically poor. We report a case of PCD secondary to metastatic NEC in the lymph nodes, with an unknown primary origin. The case presented acute cerebellar manifestations with typical neuroimaging findings, but with atypical prognosis after lymph node dissection. Neurological symptoms can provide clues to potential tumors, and early antitumor treatment may have contributed to the positive prognosis of PCD secondary to NEC in the present case.


Assuntos
Carcinoma Neuroendócrino , Degeneração Paraneoplásica Cerebelar , Carcinoma Neuroendócrino/complicações , Carcinoma Neuroendócrino/diagnóstico por imagem , Carcinoma Neuroendócrino/cirurgia , Cerebelo , Humanos , Excisão de Linfonodo , Degeneração Paraneoplásica Cerebelar/diagnóstico por imagem , Prognóstico
15.
Accid Anal Prev ; 150: 105913, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33307476

RESUMO

Traffic safety devices are one of the most important tools used to improve safety in tunnels. The tunnel retro-reflective arch (TA) plays a crucial role in stimulating drivers, relieving visual stress, and improving safety. However, determining the TA spacing mostly relies on experience and relevant standards are lacking. The aim of this research was to evaluate the degree of influence of the TA on driver behavior, visual aspects, and psychology in different zones (overall tunnel, curved segment, and middle segment) of extra-long tunnels. To test the influence of TAs, four scenarios were constructed, including three alternatives with different TA spacings (200, 300, and 400 m), and one no-arch design as a control alternative. Based on a driving simulator, the evaluation indicators related to driving safety, smoothness, and handling stability were selected and analyzed. We acquired data every 50 m as an analytical unit. The results show that the TA significantly affects driver behavior, visual aspects, and psychology. According to the matter-element model result, setting the TA spacing to 300 m in curved segment and in the tunnel overall is the best option. In the middle segment, the setting spacing of 400 m is ideal.


Assuntos
Acidentes de Trânsito , Condução de Veículo , Acidentes de Trânsito/prevenção & controle , Humanos , Equipamentos de Proteção , Segurança
16.
J Clin Neurosci ; 80: 16-22, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33099340

RESUMO

OBJECTIVE: Clinically differentiating multiple system atrophy cerebellar type (MSA-C) and spinocerebellar ataxias (SCAs) is challenging, especially at early disease stages, because of their similarities in clinical manifestation and imaging results. The purpose of this study was to explore the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) for distinguishing between MSA-C and SCAs. METHODS: A total of 51 subjects, including 33 MSA-C and 18 SCAs, were recruited. Average duration and amplitude of motor unit potentials (MUPs), percentage of polyphasic MUPs, amplitude during strong contraction and recruitment pattern during maximal voluntary contraction were recorded and analyzed to identify differential diagnostic results of EAS-EMG and US-EMG for MSA-C and SCAs. RESULTS: Significant differences in average MUP duration, percentage of polyphasic MUPs, and ratio of simple phase and simple-mix phase using EAS-EMG were noted between patients with MSA-C and SCAs. These same parameters also differed significantly between MSA-C and SCAs male patients using US-EMG. CONCLUSIONS: EAS-EMG may serve as a potential method for early differential diagnosis between patients with MSA-C and SCAs. Furthermore, US-EMG could be a supplementary method for males when EAS-EMG is not available.


Assuntos
Eletromiografia/métodos , Atrofia de Múltiplos Sistemas/diagnóstico , Ataxias Espinocerebelares/diagnóstico , Adulto , Idoso , Canal Anal/fisiopatologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/fisiopatologia , Ataxias Espinocerebelares/fisiopatologia , Uretra/fisiopatologia
17.
Int Immunopharmacol ; 86: 106721, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32615450

RESUMO

There is increasing appreciation of the critical pathogenic role of IL-17 in inflammation and autoimmune diseases, which could be produced from both adaptive Th17 cells and innate γδ T cells. Existing evidences suggest that IL-2 is important for in vivo accumulation of IL-17+ γδ T cells, leaving the mechanisms still elusive. Herein, using lupus-prone MRL/lpr mice, we demonstrated that splenic γδ T cells were potent IL-17 producers at the onset of lupus, which could be diminished by in vivo IL-2 neutralization. Additional in vivo results showed that neutralization of IL-2 also significantly deleted the IL-17-producing γδ T cells in ovalbumin (OVA) /CFA-immunized B6 mice. Using splenic γδ T cells from OVA/CFA-immunized B6 mice, we further demonstrated that IL-2 could induce IL-17 production alone or together with IL-1ß or IL-23 or anti-TCRγδ. Mechanism studies demonstrated that IL-2 could support the survival of γδ T cells, rather than induce the proliferation. Through specific pharmacologic inhibitor, we demonstrated that IL-2 could maintain that RORγt expression of γδ T cells in a STAT5-dependent manner. Collectively, this study suggested that the interplay between IL and 2 and other pro-inflammatory cytokines could trigger the rapid IL-17 production from innate γδ T cells, thus to orchestrate an inflammatory response before the development of adaptive Th17 cells.


Assuntos
Doenças Autoimunes/imunologia , Inflamação/imunologia , Interleucina-2/imunologia , Linfócitos Intraepiteliais/imunologia , Animais , Sobrevivência Celular/imunologia , Feminino , Interleucina-17/imunologia , Interleucina-17/metabolismo , Interleucina-1beta/imunologia , Interleucina-2/antagonistas & inibidores , Interleucina-23/imunologia , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos MRL lpr , Testes de Neutralização , Membro 3 do Grupo F da Subfamília 1 de Receptores Nucleares/biossíntese , Ovalbumina/imunologia , Receptores de Antígenos de Linfócitos T gama-delta/antagonistas & inibidores , Fator de Transcrição STAT5/imunologia , Baço/imunologia , Células Th17/imunologia
18.
Accid Anal Prev ; 139: 105498, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32179203

RESUMO

Crosswalk markings are a type of facility installed at the vehicle-pedestrian interaction locations and the function is to warn drivers to watch out for pedestrians crossing the street and improve safety for pedestrians. In Beijing, a type of new-designed crosswalk markings in China (NCMC) was installed. However, evaluating the effectiveness of this type of crosswalk markings was not conducted. Accordingly, the objective of this paper is to evaluate the effectiveness of this type of new-designed crosswalk markings. During the evaluation process, the vehicle-pedestrian interaction was considered; standard crosswalk markings in China (SCMC) were taken as a control group. In addition, empirical data were collected from a driving simulator, and nine evaluating indicators representing vehicle operating data, drivers' maneuvering data and drivers' subjective evaluation were proposed. In order to combine nine indicators, a Technique for Order of Preference by Similarity to Ideal Solution (TOPSIS) method was used in this study to achieve the premium degrees of these two types of crosswalk markings. The evaluation result showed that, for intersections with high or low pedestrian flow, the comprehensive effectiveness and influences on drivers' driving behaviors with presence of NCMC were better than those with presence of SCMC, no matter where vehicle-pedestrian interactions occurred. For intersections with no pedestrians, the comprehensive effectiveness and influences on drivers' driving behaviors with presence of NCMC were worse than those with presence of SCMC, no matter where vehicle-pedestrian interaction occurred. These results may provide references for facility installing and future development of standards.


Assuntos
Acidentes de Trânsito/prevenção & controle , Condução de Veículo/psicologia , Ambiente Construído/normas , Condução de Veículo/estatística & dados numéricos , Pequim , Estudos de Casos e Controles , Simulação por Computador , Humanos , Pedestres/estatística & dados numéricos , Segurança
19.
J Int Med Res ; 48(2): 300060519871744, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31500488

RESUMO

Paroxysmal vertigo as the presenting symptom of a fallopian tube tumor is rare among patients. We present a patient who was finally diagnosed with fallopian tube serous adenocarcinoma with subacute cerebellar degeneration. We analyzed the patients' clinical, pathological, and imaging data. We conclude that the possibility of paraneoplastic neurological syndrome should be considered when conventional treatment is ineffective for a fallopian tube tumor and other neurological diseases are excluded.


Assuntos
Adenocarcinoma , Neoplasias das Tubas Uterinas , Tontura/etiologia , Neoplasias das Tubas Uterinas/diagnóstico , Neoplasias das Tubas Uterinas/diagnóstico por imagem , Tubas Uterinas , Feminino , Humanos , Vertigem/etiologia
20.
Chin Med Sci J ; 34(3): 211-220, 2019 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-31601304

RESUMO

We review the representatives literatures on chronic osteomyelitis, sum up the new insights in recent years into diagnostic options and treatment regimens, analyze the advantages and disadvantages of various diagnostic approaches and treatment strategies, and propose areas of interest to make current diagnostic and treatment strategies more specific.


Assuntos
Osteomielite/diagnóstico , Osteomielite/metabolismo , Osteomielite/terapia
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