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The photocatalytic cycloaddition reaction between CO2 and epoxide is one of the most promising green routes for CO2 utilization, for which high performance photocatalysts are intensely desired. Herein, we have constructed an S-scheme heterojunction of MIL-125@ZIF-67 modified by amino groups, which achieves a cyclic carbonate yield of as high as 99% without employing any co-catalyst, outperforming the previously reported photocatalysts. In-situ diffuse reflectance infrared Fourier transform spectroscopy (DRIFTS) and in-situ electron paramagnetic resonance (EPR) spectroscopy reveal the important role of photogenerated electron migration from Lewis acid (Co) sites to the O atom of epoxide in triggering its ring-opening (the rate-determining step of CO2 cycloaddition reaction) under the assistance of photogenerated hole. Synergistically and concurrently, the Lewis base (amino groups) sites activate CO2 to CO2*, facilitating the following CO2 cycloaddition. Such a synergistic effect provides a most favorable approach to design efficient heterogeneous photocatalysts with dual/multiple-active sites for CO2 cycloaddition reaction.
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BACKGROUND: Menkes Disease (MD) is a fatal X-linked recessive disorder caused by mutations in the ATP7A gene. Severe cases typically die before the age of three. Mild MD and occipital horn syndrome are variants of MD characterized by a less severe phenotype and longer survival. OBJECTIVE: This case series aims to validate previous findings, expand the clinical phenotype, identify novel ATP7A mutations of MD patients. METHODS: Observational data with follow-up were collected from 17 genetically diagnosed Chinese MD patients. RESULTS: All 17 patients exhibited neurological symptoms, including delayed motor milestones (100%) and seizures (58.8%). Unspecific pregnancy or delivery complications occurred in 9 patients (52.9%). The most prevalent connective tissue problems were abnormal hair (76.5%), followed by skeletal and dental abnormalities (52.9%), skin problems (41.2%) and hernia (35.3%). Sensorineural hearing loss (17.6%) was previously unreported. Coronary artery aneurysm and patent foramen ovale (5.9%) were infrequent. One 16-year-old boy carries pathological exon 3-4 deletion, presents novel mild phenotype including short stature and cerebellar ataxia. Out of 13 patients with follow-up (median: 24 months), 7 patients (53.8%) died with median survival of 40 months (range: 21-48 months), 3 patients (23.1%) show severe motor development delay and 2 (15.4%) have refractory epilepsy, only the mild MD patient shows improved cerebellar ataxia. Sixteen ATP7A mutations were identified including 6 small indels (37.5%), 5 nonsense mutations (31.2%), 2 missense mutations (12.5%), 2 exon deletions (12.5%), and 1 splice site mutation (6.25%). Fourteen mutations were novel. CONCLUSIONS: Our study further broadens the phenotypic and genotypic spectrums of Menkes disease.
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BACKGROUND: Cerebral perivascular spaces are part of the cerebral microvascular structure and play a role in lymphatic drainage and the removal of waste products from the brain. Relationships of the number and location of such spaces with cognition are unclear. OBJECTIVE: To meta-analyze available data on potential associations of severity and location of perivascular spaces with cognitive performance. METHODS: We searched PubMed, EMBASE, Web of Science and the Cochrane Central Registry of Controlled Trials for relevant studies published between January 2000 and July 2023. Performance on different cognitive domains was compared to the severity of perivascular spaces in different brain regions using comprehensive meta-analysis. When studies report unadjusted and adjusted means, we use adjusted means for meta-analysis. The study protocol is registered in the PROSPERO database (CRD42023443460). RESULTS: We meta-analyzed data from 26 cross-sectional studies and two longitudinal studies involving 7908 participants. In most studies perivascular spaces was using a visual rating scale. A higher number of basal ganglia perivascular spaces was linked to lower general intelligence and attention. Moreover, increased centrum semiovale perivascular spaces were associated with worse general intelligence, executive function, language, and memory. Conversely, higher hippocampus perivascular spaces were associated with enhanced memory and executive function. Subgroup analyses revealed variations in associations among different disease conditions. CONCLUSIONS: A higher quantity of perivascular spaces in the brain is correlated with impaired cognitive function. The location of these perivascular spaces and the underlying disease conditions may influence the specific cognitive domains that are affected. SYSTEMATIC REVIEW REGISTRATION: The study protocol has been registered in the PROSPERO database (CRD42023443460).
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Encéfalo , Cognição , Sistema Glinfático , Humanos , Sistema Glinfático/patologia , Sistema Glinfático/diagnóstico por imagem , Cognição/fisiologia , Encéfalo/patologia , Encéfalo/diagnóstico por imagemRESUMO
Providing efficient electronic transport channels has always been a promising strategy to mitigate the recombination of photogenerated charge carriers. In this study, a heterostructure composed of a semiconductor/photoinactive-metal-organic framework (MOF) was constructed to provide innovative channels for electronic transport. Prepared using a previously reported method ( Angew. Chem., Int. Ed. 2016, 55, 15301-15305) with slight modifications to temperature and reaction time, the CuS@HKUST-1 hollow cuboctahedron was synthesized. The CuS@HKUST-1 heterostructure possessed a well-defined cuboctahedral morphology with a uniform size of about 500 nm and a hollow structure with a thickness of around 50 nm. The CuS nanoparticles were uniformly distributed on the HKUST-1 shell. Structural characterization in cooperation with density functional theory (DFT) calculations revealed that CuS can effectively transfer photogenerated electrons to HKUST-1. CuS@HKUST-1 hollow cuboctahedrons were first introduced to the photocatalytic cycloaddition reaction of CO2 with epoxides, demonstrating excellent photocatalytic activity and stability at mild conditions (room temperature, solvent-free, and 1 atm CO2 pressure). The high photocatalytic performance of the CuS@HKUST-1 hollow cuboctahedron could be attributed to (1) the unique hollow cuboctahedron morphology, which provided a large specific surface area (693.1 m2/g) and facilitated the diffusion and transfer of reactants and products; and (2) CuS@HKUST-1 providing electronic transport channels from CuS to HKUST-1, which could enhance the adsorption and activation of CO2. Cu2+ carrying surplus electrons can activate CO2 to CO2-. The charge separation and transfer in the photocatalytic process can also be effectively promoted. This work provides a cost-effective and environmentally friendly approach for CO2 utilization reactions under ambient conditions, addressing the critical issue of rising atmospheric CO2 levels.
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This study aimed to investigate the relationship between venous blood parameters and respiratory functions in patients with amyotrophic lateral sclerosis (ALS) and develop a model to predict respiratory impairment for individual patients with ALS. A total of 416 ALS patients were included in the study, and various hematologic and biochemical laboratory parameters as well as demographic and clinical factors were collected and compared. A multivariable logistic regression model was constructed to assess the association between FVC and venous blood biomarkers and clinical factors. The results showed that along with onset age, bulbar-onset, disease duration, BMI, eosinophil count (EO#), basophil count (BASO#), creatinine (CREA), uric acid (URCI) and low-density lipoprotein cholesterol/high-density lipoprotein cholesterol (LDL/HDL) ratio were associated with reduced FVC. The area under the ROC curve is 0.735 for the test set and 0.721 for the validation set. The study also developed a relatively acceptable model for predicting respiratory impairment in ALS patients. These findings suggest that EO#, BASO#, CREA, URIC and LDL/HDL ratio can be useful in assessing FVC in ALS and can be easily accessible, accurate, and low-cost parameters.
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Esclerose Lateral Amiotrófica , Insuficiência Respiratória , Humanos , Esclerose Lateral Amiotrófica/diagnóstico , Contagem de Leucócitos , HDL-Colesterol , LDL-Colesterol , CreatininaRESUMO
The low separation efficiency of photogenerated electron-hole (e-h) pairs severely limits the activation of photocatalyts. One brilliant strategy is to construct a p-n type semiconductor heterojunction, which can establish an inner electric field to separate the e-h pairs with high efficiency. Here, for the first time, a cuboctahedral N-doped carbon-coated CuO/TiO2 p-n heterojunction (CuO-TiO2@N-C) was designed and fabricated successfully via direct calcination of a benzimidazole-modulated cuboctahedral HKUST-Cu with titanium-tetraisopropanolate absorbed inside concomitantly. Full structural characterizations incorporating DFT computations demonstrate that the CuO/TiO2 p-n heterostructure can greatly boost the transport and separation of photoinduced e-h pairs. The nitrogen-doped carbon coating, with its excellent conductivity, porosity, stability and surface reaction activity, plays a pivotal role in promoting the overall performance and effectiveness of the reaction. The CuO-TiO2@N-C displays significantly higher photocurrent density (0.042 µA cm-2) than the CuO@N-C (0.014 µA cm-2) and TiO2@N-C (0.03 µA cm-2) electrodes, proving that the p-n heterojunction can improve the e-h generation efficiency. This unique photocatalyst affords superior photocatalytic efficiency, cycle stability and substrate scope towards cross-dehydrogenative coupling reactions.
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BACKGROUND: Our study examined the association between the initial systemic inflammation response index (SIRI) and respiratory failure in patients with Guillain-Barré syndrome (GBS). METHODS: The weighted linear regression model, weighted chi-square test, logistic regression models, smooth curve fittings, and the two-piece linear regression model were utilized for data analysis. RESULTS: Among the 443 GBS patients, 75 (6.9%) had experienced respiratory failure. According to logistic regression models, there existed no consistent linear relationship between respiratory failure and SIRI in model 1 (OR = 1.2, p < 0.001), model 2 (OR = 1.2, p < 0.001), and model 3 (OR = 1.3, p = 0.017). However, smooth curve fittings found an S-like curve relationship between SIRI and respiratory failure. Furthermore, when SIRI was < 6.4, there existed a positive correlation between SIRI and respiratory failure in model 1 (OR = 1.5, 95% CI = (1.3, 1.8), p < 0.0001), higher correlation in model 2 (OR = 1.6, 95% CI = (1.3, 1.8), p < 0.0001), and highest correlation in model 3 (OR = 1.6, 95% CI = (1.3, 2.5), p < 0.0001). CONCLUSIONS: SIRI can be used as a predictor of respiratory failure in GBS, and an S-like relationship exists between SIRI and respiratory failure at an infliction point of 6.4. When the SIRI was less than 6.4 and increased, SIRI was associated with a higher occurrence of respiratory failure. The risk of respiratory failure was no longer increased when the SIRI was over 6.4.
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Síndrome de Guillain-Barré , Insuficiência Respiratória , Humanos , Síndrome de Guillain-Barré/complicações , Estudos Retrospectivos , Insuficiência Respiratória/etiologia , Modelos Logísticos , Inflamação/complicaçõesRESUMO
Objectives: Patients with essential tremor (ET) syndrome have more prevalent and more serious gait and balance impairments than healthy controls. In this cross-sectional study, we explored whether balance impairments are associated with falls as well as more pronounced non-motor symptoms in patients with ET syndrome. Methods: We assessed the tandem gait (TG) test, as well as falls or near-falls that occurred over the previous year. Non-motor symptoms-including cognitive deficits, psychological and sleep disorders-were evaluated. In univariate analyses, statistical significance was corrected for multiple comparisons using the Benjamini-Hochberg method. Multiple logistic regression was utilized to evaluate the risk factors of poor TG performance in patients with ET syndrome. Results: A total of 358 patients with ET syndrome were divided into the abnormal TG (a-TG) and normal TG (n-TG) groups based on their performances in the TG test. We revealed that 47.2% of patients with ET syndrome had a-TG. The patients with a-TG were older, were more likely female, and were more likely present with cranial tremors and falls or near-falls (all adjusted P < 0.01). The patients with a-TG had significantly lower Mini-Mental Status Examination scores, as well as significantly higher Hamilton Depression/Anxiety Rating Scale and Pittsburgh Sleep Quality Index scores. Multiple logistic regression analysis demonstrated that female sex (OR 1.913, 95% CI: 1.180-3.103), age (OR 1.050, 95% CI: 1.032-1.068), cranial tremor scores (OR 1.299, 95% CI: 1.095-1.542), a history of falls or near-falls (OR 2.952, 95% CI: 1.558-5.594), and the presence of depressive symptoms (OR 1.679, 95% CI: 1.034-2.726) were associated with the occurrence of a-TG in patients with ET syndrome. Conclusion: TG abnormalities may be a predictor of fall risk in patients with ET syndrome and are associated with non-motor symptoms, especially depression.
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Background: While dietary factors have shown an association with Parkinson's disease (PD), the available data remains a subject of ongoing debate and controversy. Aim: We sought to evaluate potential relationships between dietary consumption of nutrients and micronutrients and risk of PD in a large sample. Methods: Cross-sectional data were retrospectively analyzed for 10,651 adults aged 40-80 years that had been collected in the US between 2007 and 2016 as a component of the nationwide National Health and Nutrition Examination Survey. Aspects of dietary intake were compared between those who reported having specific PD medication regimens or not when they completed the survey, and potential associations between diet and risk of PD were explored using binomial logistic regression. We employed Propensity Score Matching (PSM) to minimize the impact of potential confounding factors, thus enhancing the reliability of the results. Additionally, subgroup analysis based on gender and age was conducted to investigate these relationships. Results: Higher dietary intake of iron was linked to greater PD risk [odds ratio (OR) 1.065, 95% confidence interval (CI) 1.019-1.114, p = 0.006], whereas risk decreased with higher intake of vitamin K (OR 0.999, 95% CI 0.998-1.000, p = 0.024) or vitamin C (OR 0.998, 95% CI 0.996-0.999, p = 0.039). Even after applying PSM, the connection between dietary iron intake and dietary vitamin C intake with PD risk remained substantial. Subgroup analysis results revealed a significant positive association between dietary intake of iron from food and the PD risk, which was evident among individuals under 60 years of age and among males. Conclusion: The intake of micronutrients can influence risk of PD, which should be verified and explored further in prospective samples with other dietary habits and ethnic backgrounds.
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OBJECTIVE: To investigate the prevalence of, and clinicodemographic factors associated with, frailty and sarcopenia in patients with multiple system atrophy or progressive supranuclear palsy. METHODS: A total of 264 participants were recruited in this study. Demographic and clinical data were collected through structured interviews. Frailty was assessed with the clinical frailty scale (CFS), and sarcopenia was assessed with the simple five-item scoring questionnaire (SARC-F). RESULTS: The prevalence of frailty and sarcopenia was 48.57% and 35.71% in multiple system atrophy, and 51.09% and 39.13% in progressive supranuclear palsy. Multiple system atrophy patients with frailty or sarcopenia were more likely to be female and have longer disease duration, greater motor impairment, greater non-motor burden, and lower life quality. In multiple system atrophy, frailty was associated with reduced motor function and sarcopenia was associated with female sex, reduced motor function, and orthostatic hypotension. Progressive supranuclear palsy patients with frailty or sarcopenia had more severe motor impairment and non-motor burden, longer disease duration, and lower life quality. In progressive supranuclear palsy, frailty was associated with mentation and gait/midline symptoms, while sarcopenia was associated with reduced daily activity and severe gait/midline symptoms. CONCLUSION: Frailty and sarcopenia may be more common among patients with multiple system atrophy or progressive supranuclear palsy than among the general population, and they are associated with more severe forms of the two diseases. Prospective studies are necessary to clarify causal relationships between frailty/sarcopenia and clinical manifestations of multiple system atrophy and progressive supranuclear palsy.
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Fragilidade , Atrofia de Múltiplos Sistemas , Sarcopenia , Paralisia Supranuclear Progressiva , Humanos , Feminino , Masculino , Paralisia Supranuclear Progressiva/complicações , Paralisia Supranuclear Progressiva/epidemiologia , Paralisia Supranuclear Progressiva/diagnóstico , Atrofia de Múltiplos Sistemas/complicações , Atrofia de Múltiplos Sistemas/epidemiologia , Atrofia de Múltiplos Sistemas/diagnóstico , Estudos Transversais , Fragilidade/epidemiologia , Fragilidade/complicações , Sarcopenia/epidemiologia , Prevalência , Estudos ProspectivosRESUMO
BACKGROUND: As one of the widely used drugs for the management of type 2 diabetes mellites (T2DM), metformin is increasingly believed to delay cognitive deterioration and therapeutically for Alzheimer's disease (AD) patients especially those with T2DM. However, studies of the potential neuroprotective effects of metformin in AD patients have reported contradictory results. OBJECTIVE: This study aimed to evaluate the association between metformin and the risk of developing AD. METHODS: We systematically searched the PubMed, EMBASE, Web of Science, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases to identify clinical observational studies on the relationship between AD risk and metformin use published before December 20, 2021. Two investigators independently screened records, extracted data, and assessed the quality of the studies. Pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were calculated using random-effect models. RESULTS: After screening a total of 1,670 records, we included 10 studies involving 229,110 participants. The meta-analysis showed no significant association between AD incidence and metformin exposure (OR 1.17, 95% CI 0.88-1.56, pâ=â0.291). However, subgroup analysis showed that among Asians, the risk of AD was significantly higher among metformin users than those who did not (OR 1.71, 95% CI 1.24-2.37, pâ=â0.001). CONCLUSION: The available evidence does not support the idea that metformin reduces risk of AD, and it may, in fact, increase the risk in Asians. Further well-designed randomized controlled trials are required to understand the role played by metformin and other antidiabetic drugs in the prevention of AD and other neurodegenerative diseases.
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Doença de Alzheimer , Diabetes Mellitus Tipo 2 , Metformina , Doença de Alzheimer/induzido quimicamente , Doença de Alzheimer/tratamento farmacológico , Doença de Alzheimer/epidemiologia , Diabetes Mellitus Tipo 2/induzido quimicamente , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Humanos , Hipoglicemiantes/uso terapêutico , Metformina/uso terapêuticoRESUMO
Although peripheral venous blood biomarkers are related to respiratory function in Amyotrophic lateral sclerosis (ALS) patients, there are still few prediction models that predict pulmonary function. This study aimed to investigate the venous blood biomarkers associated with respiratory function in patients with ALS from southwest China and to create prediction models based on those clinical biomarkers using logistic regression. A total of 319 patients with ALS from the retrospective cohort and 97 patients with ALS from the prospective cohort were enrolled in this study. A multivariable prediction model for the correlation between peak expiratory flow (PEF) and hematologic, biochemical laboratory parameters, and clinical factors in patients with ALS was created. Along with female patients, bulbar-onset, lower body mass index (BMI), later age of onset, lower level of creatinine, uric acid, triglyceride, and a higher level of high-density lipoprotein cholesterol (HDL_C) were related to reduced PEF. The area under the receiver operating characteristics (ROC) curve is.802 for the test set and.775 for the validation set. The study constructed a multivariable prediction model for PEF in patients with ALS. The results can be helpful for clinical practice to predict respiratory impairment.
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Esclerose Lateral Amiotrófica , Insuficiência Respiratória , Esclerose Lateral Amiotrófica/complicações , Biomarcadores , Feminino , Humanos , Estudos Prospectivos , Estudos RetrospectivosRESUMO
OBJECTIVE: To investigate the differences of candidate cerebrospinal fluid (CSF) biomarkers associated with multiple system atrophy (MSA) and Parkinson's disease (PD). METHOD: Here, a systematic review and meta-analysis were conducted on studies related to CSF biomarkers associated with MSA and PD obtained from PubMed, Web of Science, Embase, and Cochrane databases. Data were pooled where appropriate and used to calculate standardized mean differences (SMDs) with 95% confidence intervals (CI). Heterogeneity was assessed using the I 2 statistic while Egger's test was used to test for existing publication bias. RESULTS: MSA patients had higher CSF t-tau (SMD = 0.41, 95% CI: 0.10 to 0.72) and YKL-40 (SMD = 0.63, 95% CI 0.12 to1.15) as well as DJ-1 (SMD = 1.05, 95% CI 0.67 to 1.42) levels than PD patients, while CSF p-tau (SMD = -0.17, 95% CI, -0.31 to -0.02) and Aß-42 (SMD = -0.33, 95% CI, -0.55 to -0.12) levels in MSA patients were lower than those in PD patients. There were no differences in CSF's GFAP and Flt3 ligand levels in both MSA and PD patients. CONCLUSION: The study revealed the differences in CSF biomarker levels between MSA and PD cohorts that can be further explored to clinically distinguish MSA from PD.
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Atrofia de Múltiplos Sistemas , Doença de Parkinson , Biomarcadores , Bases de Dados Factuais , Humanos , Atrofia de Múltiplos Sistemas/diagnósticoRESUMO
OBJECTIVE: Fatigue was reported a determinant of poor quality of life in multiple system atrophy (MSA) patients. This study aimed to determine fatigue prevalence and associated demographic, motor, and non-motor symptoms in MSA patients. MATERIALS AND METHODS: A total of 174 MSA patients met "Probable" diagnostic criteria were included in this cross-sectional study. Fatigue Severity Scale (FSS) was used to measure fatigue prevalence. Unified MSA Rating Scale (UMSARS), Non-Motor Symptoms Scale (NMSS), Hamilton Depression Rating Scale-17 (HDRS-17), Hamilton Anxiety Scale (HAMA), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), REM Sleep Behavior Disorder Screening Questionnaire (RBDSQ), and Mini-Mental State Exam (MMSE) were used for comprehensive clinical assessments. Nonparametric Mann-Whitney or Pearson's chi-square test was used to compare the patient score with or without fatigue (defined as a mean FSS score≥4). Binary logistic regression analysis was performed to determine features independently associated with the presence of fatigue. RESULTS: Fifty (28.7%) patients enrolled reported fatigue. Results of multivariate analysis revealed that anxiety (OR = 3.01, 95% CI = 1.43-6.31), excessive daytime sleepiness (OR = 2.70, 95% CI = 1.23-5.90), and use of sleep medicine (OR = 3.58, 95% CI = 1.39-9.24) were significantly associated with fatigue in MSA patients. CONCLUSIONS: Fatigue is common in our MSA patients. Anxiety, excessive daytime sleepiness, and current sleep medicine use may be associated with an increased risk of fatigue. However, the severity of motor symptoms may not be associated with fatigue. Our findings highlight the need to identify, investigate, and treat fatigue in MSA.
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Atrofia de Múltiplos Sistemas , Transtornos do Sono-Vigília , Estudos Transversais , Fadiga/epidemiologia , Fadiga/etiologia , Humanos , Atrofia de Múltiplos Sistemas/complicações , Atrofia de Múltiplos Sistemas/epidemiologia , Prevalência , Qualidade de Vida , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologiaRESUMO
PURPOSE: Up to 20-30% of patients with Guillain-Barré syndrome (GBS) suffer serious clinical manifestations such as respiratory failure. We aim to determine whether two new prognostic biomarkers, the neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR), could reliably predict respiratory failure in GBS.we MATERIALS AND METHODS: Data from 426 patients diagnosed at our center with GBS between January 2015 and July 2019 were retrospectively analyzed. Data were collected from the hospital database. Logistic regression and receiver operating characteristic curves were used to examine whether NLR alone, PLR alone or the combination, as measured at admission, could predict respiratory failure during hospitalization. Nomograms for predicting respiratory failure in GBS individuals were established, and predictive accuracy was evaluated using Harrell's concordance index (C-index). RESULTS: A total of 74 (17%) patients developed respiratory failure during hospitalization, and this was predicted independently by neutrophil count, NLR, PLR, and a combined "NLR-PLR" index, with the combined index performing best. The C-index of nomograms was 0.952 (95%CI 0.930-0.974) when NLR-PLR was included, or 0.933 (95%CI 0.911-0.955) when it was excluded. CONCLUSIONS: The prognostic biomarkers NLR and PLR may be independent predictors of respiratory failure in GBS. Combining the two indices may be more effective than either one on its own.
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Biomarcadores/sangue , Síndrome de Guillain-Barré/complicações , Contagem de Linfócitos , Insuficiência Respiratória/etiologia , Adulto , Feminino , Síndrome de Guillain-Barré/sangue , Síndrome de Guillain-Barré/imunologia , Humanos , Masculino , Pessoa de Meia-Idade , Neutrófilos , Contagem de Plaquetas , Estudos RetrospectivosRESUMO
Nitrous oxide (N2O) is a colorless, odorless gas used as an anesthetic and analgesic. It is also abused as a recreational drug, and such abuse is associated with neurological disorders and psychiatric complications such as myelopathy and, rarely, cognitive impairment. Its abuse has not been associated with acute cognitive decline. Here, we report a young girl who presented with acute cognitive impairment after excessive recreational inhalation of nitrous oxide and who recovered completely after vitamin B12 supplementation. We conclude that nitrous oxide abuse can cause acute cognitive impairment, and that this diagnosis should be considered if a patient initially presents with acute cognitive decline.
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Drogas Ilícitas , Deficiência de Vitamina B 12 , Cognição , Feminino , Humanos , Óxido Nitroso/efeitos adversos , Vitamina B 12 , Deficiência de Vitamina B 12/induzido quimicamente , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnósticoRESUMO
BACKGROUND: Respiratory failure in patients with Guillain-Barré syndrome (GBS) can lead to serious complications and dysfunctions, emphasizing the importance of early detection. The C-reactive protein-to-albumin ratio (CAR) is emerging as a novel inflammatory marker for predicting neurological outcome. We aimed to identify the association of CAR with respiratory failure and short-term outcome in GBS patients. METHODS: A total of 200 patients diagnosed with GBS were retrospectively analyzed. Data were collected from an electronic database. The associations of C-reactive protein (CRP), albumin, and CAR at admission with outcomes were evaluated by logistic regression analysis. Using receiver operating characteristic curves, we calculated the cutoff value for the CAR and compared its discriminatory power with that of C-reactive protein alone. RESULTS: Fifty-two (26%) patients showed poor short-term outcome, and 50 (25%) developed respiratory failure. CAR > 0.21 was an independent predictor of respiratory failure, and CAR > 0.19 was an independent predictor of poor short-term outcome. CAR showed a better predictive value than CRP alone. In addition, the c-index of the predictive nomogram for respiratory failure was higher when it included CAR (0.962) than when it did not (0.958). A similar result was observed for the predictive nomogram for poor short-term outcome (0.953 vs 0.947). CONCLUSION: CAR > 0.21, a novel inflammatory biomarker, is independently associated with the occurrence of respiratory failure in GBS patients, while CAR > 0.19 is independently associated with poor short-term outcome. CAR may help identify GBS patients at high risk of poor prognosis.
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Proteína C-Reativa , Síndrome de Guillain-Barré , Albuminas , Biomarcadores , Proteína C-Reativa/análise , Síndrome de Guillain-Barré/diagnóstico , Humanos , Prognóstico , Estudos RetrospectivosRESUMO
LDL receptor-related protein (LRP) 10 was recently identified as a Parkinson's disease gene through genome-wide linkage and sequencing analysis, but its role in Parkinson's disease in various populations is still unclear. The aim of this study was to determine the frequency and spectrum of LRP10 mutations in a cohort of Parkinson's disease patients from mainland China. All LRP10 exons and their flanking intron regions were screened by direct sequencing in 567 unrelated Parkinson's disease patients and 600 unrelated controls. We detected 29 exonic or splicing variants in 79 patients with Parkinson's disease. Five variants (c.A181C:p.I61L, c.C652T:p.Q218X, c.C833T:p.T278I, c.T1592G:p.I531S, c.T1697C:p.L566P) were predicted to be disease-causing or damaging by multiple in silico tools. Our study provides genetic evidence that LRP10 defects may correlate with sporadic Parkinson's disease.