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OBJECTIVE: To investigate the consistency between the reflux symptom score (RSS) and the multitemporal salivary pepsin test in screening for laryngopharyngeal reflux (LPR) and the screening value of the RSS for LPR by simultaneously administering daytime multitemporal salivary pepsin test and RSS to patients. METHODS: This was a single-center prospective observational study. All included patients underwent simultaneous daytime multitemporal salivary pepsin testing and RSS. A participant was considered to have LPR when one or more positive salivary pepsin test results or RSS score > 13 were obtained. The consistency between the multitemporal salivary pepsin test and the RSS was compared by the weighted Cohen's kappa statistic. The screening value of the RSS for LPR was investigated by receiver operating characteristic (ROC) analysis. RESULTS: A total of 67 patients were included. The positivity rate of LPR was 71.64% according to the results of the multitemporal salivary pepsin test. According to RSS, the positive rate of LPR was 70.15%. The weighted Kappa value between the multitemporal salivary pepsin test and the RSS was 0.675 (p < 0.001). The area under curve of RSS screening for LPR was 0.843 (p < 0.01), and the sensitivity, specificity, positive predictive value, and negative predictive value of RSS screening for LPR were 89.58%, 78.95%, 91.49%, and 75%, respectively. CONCLUSION: There is a good consistency between the RSS and the multitemporal salivary pepsin test, and the RSS has a good screening value for LPR, which can be applied to screen for LPR in otolaryngologic patients.
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Refluxo Laringofaríngeo , Pepsina A , Saliva , Humanos , Refluxo Laringofaríngeo/diagnóstico , Feminino , Masculino , Estudos Prospectivos , Pessoa de Meia-Idade , Pepsina A/análise , Pepsina A/metabolismo , Saliva/química , Adulto , Curva ROC , Sensibilidade e Especificidade , Idoso , Valor Preditivo dos Testes , Índice de Gravidade de DoençaRESUMO
BACKGROUND: The anticoagulation strategy of switching to rivaroxaban after 1 week of initial low-molecular-weight heparin (LMWH) therapy is recommended by a guideline for the treatment of acute iliofemoral deep vein thrombosis (DVT). However, the initial rivaroxaban dose in the switching strategy, as well as the effectiveness and safety of the early switching (less than 1 week) to rivaroxaban, remain inadequately substantiated. We aimed to evaluate the effectiveness and safety of early switching from LMWH to maintenance therapy of rivaroxaban (20 mg once daily) for acute iliofemoral DVT. METHODS: A retrospective cohort study was conducted using data from patients with acute iliofemoral DVT who received initial LMWH anticoagulation followed by rivaroxaban maintenance therapy. The clinical outcomes were compared between early (LMWH course ≤7 days) and routine (LMWH course >7 days) switching strategies within 3 months of initiating anticoagulation. RESULTS: 217 patients were included, 59 (27.2%) receiving early switching and 158 (72.8%) receiving routine switching. Compared with routine switching, patients with early switching had a significantly shorter hospital stay (7 days vs. 14 days, P < 0.001). The length of hospital stay was significantly positively correlated with the duration of LMWH (r = 0.762, P < 0.001). The incidences of recurrent venous thromboembolism (5.1% vs. 2.5%, P = 0.606), major bleeding (0% vs. 1.9%, P = 0.564), clinically relevant nonmajor bleeding (1.7% vs. 2.5%, P = 1.000) and all-cause mortality (6.8% vs. 2.5%, P = 0.283) were not statistically different between the 2 groups. CONCLUSIONS: Direct early switching from LMWH to maintenance therapy of rivaroxaban is effective and safe for acute iliofemoral DVT.
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Esquema de Medicação , Substituição de Medicamentos , Inibidores do Fator Xa , Veia Femoral , Hemorragia , Heparina de Baixo Peso Molecular , Veia Ilíaca , Rivaroxabana , Trombose Venosa , Humanos , Rivaroxabana/efeitos adversos , Rivaroxabana/administração & dosagem , Estudos Retrospectivos , Trombose Venosa/tratamento farmacológico , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/mortalidade , Trombose Venosa/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Resultado do Tratamento , Inibidores do Fator Xa/efeitos adversos , Inibidores do Fator Xa/administração & dosagem , Fatores de Tempo , Idoso , Hemorragia/induzido quimicamente , Veia Ilíaca/diagnóstico por imagem , Heparina de Baixo Peso Molecular/efeitos adversos , Heparina de Baixo Peso Molecular/administração & dosagem , Fatores de Risco , Adulto , Doença Aguda , Tempo de Internação , Recidiva , Anticoagulantes/efeitos adversos , Anticoagulantes/administração & dosagemRESUMO
BACKGROUND: Mild cognitive impairment is one of the non-motor symptoms in Parkinson's disease (PD) and multiple system atrophy (MSA). Few studies have previously been conducted on the correlation between serum uric acid (SUA) and lipid levels and mild cognitive impairment in PD and MSA. METHODS: Participants included 149 patients with PD and 99 patients with MSA. The Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) were used to evaluate cognitive function. Evaluations were conducted on SUA and lipid levels, which included triglyceride, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and total cholesterol (TC). RESULTS: Patients with PD and MSA diagnosed with mild cognitive impairment demonstrated multiple cognitive domain impairment when compared with patients with normal cognition. Attentional impairment was more pronounced in patients with MSA when compared with PD (p = 0.001). In PD, the risk of mild cognitive impairment was lower in the highest quartiles and secondary quartile of SUA than in the lowest quartiles (odds ratio [OR] = 0.281, 95% confidence intervals [CI]: 0.097-0.810, p = 0.019; and OR = 0.317, 95% CI: 0.110-0.911, p = 0.033). In MSA, the risk of mild cognitive impairment was lower in the third and highest quartile of SUA than in the lowest quartile (OR = 0.233, 95% CI: 0.063-0.868, p = 0.030; and OR = 0.218, 95% CI: 0.058-0.816, p = 0.024). In patients with PD, the MoCA scores were negatively correlated with TC levels (r = -0.226, p = 0.006) and positively correlated with SUA levels (r = 0.206, p = 0.012). In MSA, the MoCA scores were positively correlated with SUA levels (r = 0.353, p = 0.001). CONCLUSIONS: Lower SUA levels and higher TC levels are a possible risk factor for the risk and severity of mild cognitive impairment in PD. Lower SUA levels are a possible risk factor for the risk and severity of mild cognitive impairment in MSA.
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Disfunção Cognitiva , Atrofia de Múltiplos Sistemas , Doença de Parkinson , Ácido Úrico , Humanos , Ácido Úrico/sangue , Doença de Parkinson/sangue , Doença de Parkinson/complicações , Disfunção Cognitiva/sangue , Disfunção Cognitiva/etiologia , Masculino , Atrofia de Múltiplos Sistemas/sangue , Atrofia de Múltiplos Sistemas/complicações , Feminino , Idoso , Pessoa de Meia-Idade , Lipídeos/sangue , Testes de Estado Mental e DemênciaRESUMO
OBJECTIVE: To investigate the relationship between laryngopharyngeal reflux disease (LPRD) and gastroesophageal reflux disease (GERD). METHODS: Gastroesophageal Reflux Disease Questionnaire (GERD-Q) and Reflux Symptom Index (RSI) scale were administered to patients attending the gastroenterology outpatient clinic at the Sixth Medical Center of the PLA General Hospital from 7 April 2021 to 10 June 2021. Patients with GERD-Q score >7 were indicated GERD, and patients with RSI >13 were indicated LPRD. The analysis of patients with pure GERD (independent GERD, iG), patients with LPRD and GERD (LPRD & GERD, L&G), patients with simple LPRD (independent LPRD, iL) and the percentage of normal group (GERDQ-negative and RSI-negative, N). RESULTS: 3060 GERD-Q and RSI questionnaires were distributed, and 2974 complete questionnaires were returned. Among them, 274 (9.20%) iL, 334 (11.23%) iG and 151 (5.10%) L&G patients and 2215 (74.48%) N patients. The positive rate of GERD in this sample was 16.31%, of which 31.13% had coexisting LPRD, and the positive rate of LPRD was 14.29%, of which 35.53% had coexisting GERD. Among patients with LPRD, the positive rate of concomitant GERD (χ2 = 4.157, p = 0.041) and RSI score (Z = -6.823, p = 0.000) was significantly higher in patients with the presence of respiratory symptoms than in those without respiratory symptoms. CONCLUSION: LPRD can exist alone or in conjunction with GERD. Patients with both LPRD and GERD had the most severe reflux symptoms. The need to focus on the risk of those initially screened only with GERD developing LPRD. Respiratory symptoms play an important role in reflux disease.
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Refluxo Gastroesofágico , Refluxo Laringofaríngeo , Humanos , Pacientes Ambulatoriais , Estudos Prospectivos , Inquéritos e Questionários , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , IdosoRESUMO
KEY MESSAGE: PvLBD12 enhanced the salt tolerance by increasing proline accumulation, improving K+ accumulation, and decreasing reactive oxygen species level in switchgrass. Abiotic stresses are the serious factors which limit plant development and productivity and restrict the agricultural economy. It is important, therefore, to understand the mechanism of abiotic tolerance in plants. Lateral organ boundaries domain (LBD) proteins as plant-specific transcription factors play important function in plant lateral organ development, plant regeneration, and abiotic stress. In our study, we identify 69 LBD members from switchgrass genome-wide sequences and classify them based on their homology with LBD proteins in Arabidopsis. RT-qPCR showed that PvLBD genes had different expression patterns under abiotic stress conditions, indicating that they play important roles in various stress. PvLBD12 was selected as a candidate gene for further functional analysis because it had the highest expression level under salt stress. Overexpression of PvLBD12 enhanced salt tolerance by altering a wide range of physiological responses (like increased proline accumulation, reduced malondialdehyde production, improved K+ accumulation, and reduced Na+ absorption) in switchgrass. Some stress response genes such as proline biosynthesis gene PvP5CS1, vacuolar Na+(K+)/H+ antiporter gene PvNHX1, two key ROS-scavenging enzyme genes PvCAT and PvSOD were all upregulated in PvLBD12 overexpression lines. Taken together, PvLBD12 plays a pivotal role in response to salt stress by increasing proline accumulation, improving K+ accumulation, reducing Na+ absorption, and decreasing reactive oxygen species level. It will be better to understand the potential biological functions of LBD genes in other plants.
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Arabidopsis , Panicum , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Panicum/genética , Panicum/metabolismo , Plantas Geneticamente Modificadas/genética , Plantas Geneticamente Modificadas/metabolismo , Tolerância ao Sal/genética , Espécies Reativas de Oxigênio/metabolismo , Arabidopsis/metabolismo , Prolina/metabolismo , Estresse Fisiológico/genética , Regulação da Expressão Gênica de Plantas , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismoRESUMO
BACKGROUND: Sarcopenia is a geriatric syndrome with progressive loss of skeletal muscle mass and function and has a negative impact on clinical outcomes associated with chronic obstructive pulmonary disease (COPD). Recently, the sarcopenia index (SI) was developed as a surrogate marker of sarcopenia based upon the serum creatinine to cystatin C ratio. We aimed to assess the value of SI for predicting clinically important outcomes among elderly patients with acute exacerbation of COPD (AECOPD). METHODS: This cross-sectional study included elderly patients with AECOPD in China from 2017 to 2021. Clinical data were collected from medical records, and serum creatinine and cystatin C were measured. Outcomes included respiratory failure, heart failure, severe pneumonia, invasive mechanical ventilation, and mortality. Binary logistic regression was used to analyze the association between SI and clinical outcomes. RESULTS: A total of 306 patients (260 men, 46 women, age range 60-88 years) were enrolled in this study. Among the total patients, the incidence of respiratory failure and severe pneumonia was negatively associated with SI values. After adjusting for potential confounding factors, binary logistic regression analyses showed that a higher SI was still independently associated with a lower risk of respiratory failure (odds ratio [OR]: 0.27, 95% confidence interval [CI]: 0.13-0.56, P < 0.05). In subgroup analysis, the incidence of respiratory failure was negatively associated with SI values in groups with both frequent exacerbation and non-frequent exacerbation. After adjustment for potential confounders, binary logistic regression analyses showed that a higher SI was also independently associated with a lower risk of respiratory failure in both groups (OR: 0.19, 95% CI: 0.06-0.64 and OR: 0.31, 95% CI: 0.11-0.85). However, there were no significant differences in the correlations between SI and the risk of heart failure, invasive mechanical ventilation, and mortality in all groups. CONCLUSION: The SI based on serum creatinine and cystatin C can predict respiratory failure in patients with AECOPD and either frequent or infrequent exacerbations. This indicator provides a convenient tool for clinicians when managing patients with AECOPD in daily clinical practice.
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Pneumonia , Doença Pulmonar Obstrutiva Crônica , Insuficiência Respiratória , Sarcopenia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Creatinina , Estudos Transversais , Cistatina C , Pneumonia/complicações , Doença Pulmonar Obstrutiva Crônica/complicações , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/epidemiologia , Insuficiência Respiratória/terapia , Sarcopenia/diagnóstico , Sarcopenia/epidemiologia , Sarcopenia/terapia , Pessoa de Meia-IdadeRESUMO
High-precision and robust localization is critical for intelligent vehicle and transportation systems, while the sensor signal loss or variance could dramatically affect the localization performance. The vehicle localization problem in an environment with Global Navigation Satellite System (GNSS) signal errors is investigated in this study. The error state Kalman filtering (ESKF) and Rauch-Tung-Striebel (RTS) smoother are integrated using the data from Inertial Measurement Unit (IMU) and GNSS sensors. A segmented RTS smoothing algorithm is proposed in order to estimate the error state, which is typically close to zero and mostly linear, which allows more accurate linearization and improved state estimation accuracy. The proposed algorithm is evaluated using simulated GNSS signals with and without signal errors. The simulation results demonstrate its superior accuracy and stability for state estimation. The designed ESKF algorithm yielded an approximate 3% improvement in long straight line and turning scenarios compared to classical EKF algorithm. Additionally, the ESKF-RTS algorithm exhibited a 10% increase in the localization accuracy compared to the ESKF algorithm. In the double turning scenarios, the ESKF algorithm resulted in an improvement of about 50% in comparison to the EKF algorithm, while the ESKF-RTS algorithm improved by about 50% compared to the ESKF algorithm. These results indicated that the proposed ESKF-RTS algorithm is more robust and provides more accurate localization.
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OBJECTIVE: To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. METHODS: A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions. RESULTS: The 1,664 patients included 1,415 (85.04%) breast cancer patients and 245 (14.72%) ovarian cancer patients, while four (0.24%) patients had both the breast and ovarian cancers. A total of 151 variants, including 71 BRCA1 variants and 80 BRCA2 variants, were detected in the 234 (14.06%) patients. The 151 variants included 58 pathogenic variants, 8 likely pathogenic variants, and 85 variants of unknown significance (VUS). A total of 56.25% (18/32) and 65.38% (17/26) of pathogenic variants (likely pathogenic variants are not included) were distributed in exon 14 of BRCA1 and exon 11 of BRCA2, respectively. The most common pathogenic variants among this Hakka population are c.2635G > T (p.Glu879*) (n = 7) in the BRCA1 gene and c.5164_5165del (p.Ser1722Tyrfs*4) (n = 7) in the BRCA2 gene among the Hakka population. A hotspot mutation in the Chinese population, the BRCA1 c.5470_5477del variant was not found in this Hakka population. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients are different from that in other ethnic groups. CONCLUSIONS: The most common pathogenic variant in this population is c.2635G > T in the BRCA1 gene, and c.5164_5165delAG in the BRCA2 gene in this population. The prevalence and spectrum of variants in the BRCA1 and BRCA2 genes in the Hakka patients from southern China are different from those in other ethnic groups.
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Neoplasias da Mama , Neoplasias Ovarianas , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma Epitelial do Ovário/genética , Feminino , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Células Germinativas/patologia , Mutação em Linhagem Germinativa , Humanos , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genéticaRESUMO
BACKGROUND: Although there are many treatments for laryngeal contact granuloma (LCG), some patients still fail treatment. Botulinum toxin A injection vocal cords may be a salvage therapy. OBJECTIVES: To study the efficacy of thyroarytenoid botulinum toxin A injection for the treatment of refractory LCG. MATERIAL AND METHODS: From May 2021 to March 2022, 23 male patients with refractory idiopathic LCG were treated by injection of botulinum toxin A into the thyroarytenoid muscle via the thyrohyoid membrane approach. Inspiratory-phase laryngoscopy images were collected before treatment and 3 months after injection treatment. The lesion size was evaluated with the Farwell granuloma endoscopic grading system and Image J software. RESULTS: The average age of 23 patients was 49 years. The dose of botulinum toxin injection ranged from 2.5 to 5 units. Three months after injection, 17 patients were cured, 2 patients showed marked improvement, and 4 patients did not experience any effect. The total efficacy rate was 82.61% (19/23), and no serious complications occurred. Almost all patients experienced hoarseness within one week after injection; they gradually recovered after one month, and their voice returned to baseline at 3 months. CONCLUSIONS: Thyroarytenoid botulinum toxin injection is an effective method for resolving refractory LCG.
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Toxinas Botulínicas Tipo A , Granuloma Laríngeo , Toxinas Botulínicas Tipo A/uso terapêutico , Granuloma/tratamento farmacológico , Granuloma Laríngeo/tratamento farmacológico , Humanos , Músculos Laríngeos , Masculino , Resultado do Tratamento , Adulto JovemRESUMO
PURPOSE: To investigate the diagnostic value of combined multi-timepoint salivary pepsin testing (MTPSPT) and hypopharyngeal-esophageal multichannel intraluminal impedance-pH monitoring (HEMII-pH) for laryngopharyngeal reflux (LPR) and whether an appropriate reduction in the duration of HEMII-pH would affect the accuracy of diagnosis of LPR. METHODS: Recruited patients were studied with both MTPSPT and HEMII-pH. The diagnosis of LPR was based on the occurrence of > 1 reflux event and/or positive results on any of the MTPSPT. The diagnostic value of combined diagnosis was studied through combining a breakdown of the 24-h HEMII-pH finding and the results of the MTPSPT. The diagnostic value was expressed in terms of sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). RESULTS: Based on 24-h HEMII-pH and MTPSPT, the positive rate of LPR was 83.33% and 74.69%, respectively. According to the combined diagnosis, the positive rate of LPR was 90.74%. The sensitivity and specificity of the combined diagnosis both were 89.51% and 100%, when the HEMII-pH intervals were 7 a.m.-6 p.m. and 7 a.m.-7 p.m., respectively. However, when the monitoring time was extended to 8 p.m. and bedtime, the sensitivity, specificity, PPV and NPV of the combined diagnosis both were 100%. CONCLUSIONS: The combination of MTPSPT and HEMII-pH increased the sensitivity and accuracy of diagnosis of LPR. For patients with positive MTPSPT results, the duration of HEMII-pH can be appropriately shortened to reduce patient sufferings.
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Refluxo Laringofaríngeo , Impedância Elétrica , Monitoramento do pH Esofágico , Humanos , Concentração de Íons de Hidrogênio , Refluxo Laringofaríngeo/diagnóstico , Refluxo Laringofaríngeo/metabolismo , Pepsina A , Estudos RetrospectivosRESUMO
Yarrowia lipolytica has been extensively used to produce essential chemicals and enzymes. As in most other eukaryotes, nonhomologous end joining (NHEJ) is the major repair pathway for DNA double-strand breaks in Y. lipolytica Although numerous studies have attempted to achieve targeted genome integration through homologous recombination (HR), this process requires the construction of homologous arms, which is time-consuming. This study aimed to develop a homology-independent and CRISPR/Cas9-mediated targeted genome integration tool in Y. lipolytica Through optimization of the cleavage efficiency of Cas9, targeted integration of a hyg fragment was achieved with 12.9% efficiency, which was further improved by manipulation of the fidelity of NHEJ repair, the cell cycle, and the integration sites. Thus, the targeted integration rate reached 55% through G1 phase synchronization. This tool was successfully applied for the rapid verification of intronic promoters and iterative integration of four genes in the pathway for canthaxanthin biosynthesis. This homology-independent integration tool does not require homologous templates and selection markers and achieves one-step targeted genome integration of the 8,417-bp DNA fragment, potentially replacing current HR-dependent genome-editing methods for Y. lipolyticaIMPORTANCE This study describes the development and optimization of a homology-independent targeted genome integration tool mediated by CRISPR/Cas9 in Yarrowia lipolytica This tool does not require the construction of homologous templates and can be used to rapidly verify genetic elements and to iteratively integrate multiple-gene pathways in Y. lipolytica This tool may serve as a potential supplement to current HR-dependent genome-editing methods for eukaryotes.
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Proteína 9 Associada à CRISPR , Sistemas CRISPR-Cas , Yarrowia/genética , Cantaxantina/metabolismo , Reparo do DNA por Junção de Extremidades , Edição de Genes , Genoma Fúngico , Yarrowia/metabolismo , beta Caroteno/metabolismoRESUMO
BACKGROUND Total laminectomy with pedicle screw internal fixation is the most common surgical procedure for patients with primary tumors arising in the spinal canal, but the procedure has several limitations. This study aimed to compare total laminectomy and pedicle screw internal fixation with ultrasound- and microscope-assisted laminectomy replantation surgery in patients with tumors of the lumbar spinal canal. MATERIAL AND METHODS A retrospective study was conducted. Sixty patients with tumor spinal canal were admitted to our hospital. Patients in group A (n=32) underwent total laminectomy and pedicle screw internal fixation; patients in group B (n=28) underwent laminectomy replantation with ultrasonic and microscopic assistance. Operative time, intraoperative blood loss, operative segment, length of hospital stay, postoperative length of bed rest, and visual analog scale (VAS) score after surgery were analyzed. RESULTS Hospital stay and postoperative bed rest time of patients in group B were shorter than those in group A (P=0.004). Intraoperative blood loss, postoperative drainage volume, and postoperative pain relief of group B were significantly lower than those of group A (P=0.000). There was no significant difference in postoperative pathological results between the 2 groups (P=0.901). CONCLUSIONS Ultrasound- and microscope-assisted laminectomy replantation resulted in the reduced intraoperative blood loss, postoperative drainage volume, length of hospital stay, and postoperative VAS pain score, compared with total laminectomy and pedicle screw internal fixation for the surgical removal of tumors of the lumbar spinal canal.
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Tomografia com Microscopia Eletrônica/métodos , Fixação Interna de Fraturas/métodos , Laminectomia/métodos , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias da Coluna Vertebral/cirurgia , Ultrassonografia de Intervenção/métodos , Adulto , Feminino , Humanos , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/cirurgia , Masculino , Pessoa de Meia-Idade , Parafusos Pediculares , Reimplante/métodos , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemAssuntos
Condrócitos , Proteínas Proto-Oncogênicas c-akt , Diferenciação Celular , Condrócitos/metabolismo , Hipertrofia , Proteínas Proto-Oncogênicas c-akt/genética , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais , Glutationa Peroxidase GPX1/metabolismo , Animais , CamundongosRESUMO
OBJECTIVE: To explore the clinical features of a Chinese pedigree affected with skeletal muscle sodium channelopathies due to variation of SCN4A gene. METHODS: Potential variation of the 24 exons of the SCN4A gene was screened using PCR and Sanger sequencing. RESULTS: Four family members were affected with the disease in an autosomal dominant inheritance pattern. Three patients had normekalemic periodic paralysis, while 1 showed paramyotonia congenita. Genetic analysis detected a missense variation c.2078T>C (p.Ile693Thr) in exon 13 of the SCN4A gene in the proband and other 3 affected relatives. CONCLUSION: Normokalemic periodic paralysis and paramyotonia congenita can occur in different family members with skeletal muscle sodium channelopathies due to c.2078T>C(p.Ile693Thr) variation of SCN4A gene.
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Canalopatias/genética , Músculo Esquelético/fisiopatologia , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Humanos , Mutação , LinhagemRESUMO
BACKGROUND: The risks of atherosclerotic cardiovascular and cerebrovascular diseases in women rapidly increase with age in post-menopausal women. We aimed to investigate the lipid profiles in peri-menopausal women with cerebral infarction and to explore the effects of atorvastatin intervention. METHODS: We collected women aged 40-60 with cerebral infarction between January 2013 and December 2016. Atorvastatin was applied for 6 months in all included patients. Blood lipid profiles, serum pro-inflammation cytokines, intracranial plaque and NIH stroke scale (NIHSS) scores were evaluated before and after atorvastatin treatment. RESULTS: Totally 210 patients were included. Before atorvastatin treatment, post-menopausal patients had significantly higher levels of triglyceride, cholesterol, low-density lipoprotein and a reduced level of high-density lipoprotein than those in pre-menopausal patients. Blood levels of pro-inflammatory cytokines including interleukin (IL)-1, IL-6 and tumor necrosis factor-α were higher in post-menopausal patients, who had larger intracranial plaques than pre-menopausal patients. Consistently, post-menopausal patients had higher NIHSS scores than pre-menopausal ones. Atorvastatin reduced NIHSS scores and improved dyslipidemia in patients and eliminated the differences of these parameters between pre- and post-menopausal patients. CONCLUSIONS: Post-menopausal patients were severer than pre-menopausal patients in terms of dyslipidemia, systemic inflammation and NIHSS scores. Atorvastatin may be beneficial for women with cerebral infarction.
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Atorvastatina/farmacologia , Infarto Cerebral/tratamento farmacológico , Colesterol/sangue , Dislipidemias/tratamento farmacológico , Menopausa , Triglicerídeos/sangue , Adulto , Atorvastatina/uso terapêutico , Infarto Cerebral/sangue , Infarto Cerebral/complicações , Citocinas/sangue , Dislipidemias/sangue , Dislipidemias/complicações , Feminino , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Inflamação , Pessoa de Meia-IdadeRESUMO
The purpose of this study was to fabricate biopolymer conjugates from lactoferrin (LF) and hyaluronic acid (HA) and then to investigate their potential as emulsifiers for forming sesamol-loaded emulsions. Initially, LF-HA covalent conjugates were formed using the carbodiimide coupling method in aqueous solutions at pH = 4.5, and then the nature of the conjugates was investigated using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), Fourier Transform Infrared Spectroscopy (FTIR) spectroscopy, and fluorescence spectroscopy. The results demonstrated the formation of an amide link between the amine groups of LF and the carboxyl groups of HA. Sesamol emulsions were prepared using the LF-HA conjugates as emulsifiers and their stability was determined. The conjugates improved both the physical and chemical stability of the emulsions during storage. Optimum stability of the emulsion was obtained at a LF-to-HA molar ratio of 2:1. Our results suggest that LF-HA conjugates may be effective emulsifiers for use in food stuffs and other applications.
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Benzodioxóis/química , Emulsões/química , Ácido Hialurônico/química , Lactoferrina/química , Fenóis/química , Estabilidade de Medicamentos , Eletroforese em Gel de Poliacrilamida , Emulsificantes/química , Tamanho da Partícula , Espectrometria de Fluorescência , Espectroscopia de Infravermelho com Transformada de FourierRESUMO
Recent several meta-analyses and certain case-control studies suggested that the Ras-like without CAAX 2 (RIT2) rs12456492 increased the risk of Parkinson's disease (PD) in Asian and Caucasian populations. However, as so far, the association between RIT2 rs12456492 and PD is still controversial. We investigated genetic association of RIT2 rs12456492 with PD susceptibility in a Han Chinese population of 1747 ethnic Han Chinese subjects comprising 884 PD patients and 863 healthy controls. The minor allele frequency (MAF) of G at the RIT2 rs12456492 was not significantly different between the cases and the controls. Furthermore, no significant differences were observed in genotype distribution between PD patients and healthy controls for the RIT2 rs12456492, even after being stratified by age at onset and gender. In addition, we found that no significant differences were detected in the clinical manifestations for gender, age at onset, and onset symptoms between PD patients with AG + GG genotypes and those with AA genotypes. Our study from the mainland China demonstrates that RIT2 rs12456492 do not increase the risk of developing PD. Therefore, more replication studies in additional Chinese population and other cohorts are warranted to further clarify the role of RIT2 rs12456492 in PD susceptibility.
Assuntos
Proteínas Monoméricas de Ligação ao GTP/genética , Doença de Parkinson/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Frequência do Gene , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Adulto JovemRESUMO
Recently, mutations in the coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) gene have been identified in Japanese families with autosomal dominant Parkinson's disease (PD) and two single nucleotide variants (rs10043 and Pro2Leu) increased risk of sporadic PD. The role of CHCHD2 in PD susceptibility in other Asian populations still remains to be clarified. In a large Chinese cohort from mainland China (31 familial PD patients, 1,027 sporadic PD patients, and 1,095 health controls), we examined the association of rs10043 and Pro2Leu variants in CHCHD2 with PD. All subjects were homozygous for rs10043. Moreover, we detected six patients (0.57%, one of the six patients has family history) and three controls (0.27%) with a heterozygous Pro2Leu variant. Though the frequency of Pro2Leu variant was two times higher in PD compared to controls, the difference did not reach significance in genotypic distribution (P = 0.47) or allelic distribution (P = 0.47). However, our meta-analysis in Asian populations revealed that the frequency of Pro2Leu variant was significantly higher in PD patients than in controls (P = 0.0002). Our study suggests that Pro2Leu in CHCHD2 may be a risk factor for PD among Asians. © 2016 Wiley Periodicals, Inc.
Assuntos
Proteínas Mitocondriais/genética , Doença de Parkinson/genética , Fatores de Transcrição/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Povo Asiático/genética , China , Proteínas de Ligação a DNA , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Testes Genéticos , Genótipo , Humanos , Leucina , Masculino , Pessoa de Meia-Idade , Proteínas Mitocondriais/sangue , Proteínas Mitocondriais/metabolismo , Mutação , Doença de Parkinson/etiologia , Prolina , Fatores de Risco , Fatores de Transcrição/sangue , Fatores de Transcrição/metabolismoRESUMO
The dynamics of SEIR epidemic model with saturated incidence rate and saturated treatment function are explored in this paper. The basic reproduction number that determines disease extinction and disease survival is given. The existing threshold conditions of all kinds of the equilibrium points are obtained. Sufficient conditions are established for the existence of backward bifurcation. The local asymptotical stability of equilibrium is verified by analyzing the eigenvalues and using the Routh-Hurwitz criterion. We also discuss the global asymptotical stability of the endemic equilibrium by autonomous convergence theorem. The study indicates that we should improve the efficiency and enlarge the capacity of the treatment to control the spread of disease. Numerical simulations are presented to support and complement the theoretical findings.