RESUMO
Three-section landslides are renowned for their immense size, concealed development process, and devastating impact. This study conducted physical model tests to simulate one special geological structure called a three-section-within landslide. The failure process and precursory characteristics of the tested samples were meticulously analyzed using video imagery, micro-seismic (MS) signals, and acoustic emission (AE) signals, with a focus on event activity, intensity, and frequency. A novel classification method based on AE waveform characteristics was proposed, categorizing AE signals into burst signals and continuous signals. The findings reveal distinct differences in the evolution of these signals. Burst signals appeared exclusively during the crack propagation and failure stages. During these stages, the cumulative AE hits of burst signals increased gradually, with amplitude rising and then declining. High-amplitude burst signals were predominantly distributed in the middle- and high-frequency bands. In contrast, cumulative AE hits of continuous signals escalated rapidly, with amplitude monotonously increasing, and high-amplitude continuous signals were primarily distributed in the low-frequency band. The emergence of burst signals and high-frequency AE signals indicated the generation of microcracks, serving as early-warning indicators. Notably, the early-warning points of AE signals were detected earlier than those of video imagery and MS signals. Furthermore, the early-warning point of burst signals occurred earlier than those of continuous signals, and the early-warning point of the classification method preceded that of overall AE signals.
RESUMO
Spontaneous intracerebral hemorrhage (ICH) constitutes a significant portion of acute stroke incidents worldwide, often leading to post-stroke dysphagia (PSD), affecting 50-77% of survivors and worsening patient morbidity. This study aimed to identify predictive variables for PSD among patients with spontaneous ICH. A retrospective cohort study was conducted on adult patients with acute spontaneous ICH, confirmed by brain computed tomography, from June 2019 to June 2023. We analyzed demographic, neuroimaging, and stroke-specific characteristics and rehabilitation indicators. PSD was evaluated using nasogastric (NG) tube retention and the Functional Oral Intake Scale (FOIS) levels at 4 and 12 weeks post-ICH. Statistical analyses involved univariate and multivariate logistic regression to identify PSD predictors. A total of 310 ICH patients were included in the study. At 4 weeks, significant predictors for NG tube retention included 24-hour National Institute of Health Stroke Scale (NIHSS) scores, estimated glomerular filtration rate and sitting balance. At 12 weeks, hospital stay duration and ICH score were significant predictors for NG tube retention. Regarding the FOIS, significant predictors at 4 weeks included higher 24-hour NIHSS scores, compromised sitting balance, immobility-related complications, initial hematoma volume and intraventricular hemorrhages. At 12 weeks, older age and higher 24-hour NIHSS scores significantly predicted lower FOIS levels. Our findings demonstrate that PSD in ICH patients is influenced by a complex interplay of factors, including stroke severity, renal function, and physical impairment. The study highlights the importance of early neurological assessment, physical function, and comprehensive management in improving swallowing outcomes, emphasizing a multifaceted approach to enhancing outcomes for ICH survivors.
RESUMO
OBJECTIVE: This study aimed to assess the diagnostic potential of the Antibody concentration ratio in identifying treatment-refractory myasthenia gravis (MG). METHODS: A retrospective analysis was conducted on 116 MG patients who underwent antibody detection at least twice between June 1, 2015, and June 1, 2023. Demographic and clinical characteristics were collated to ascertain their association with refractory MG. The Antibody Concentration Ratio was applied to determine treatment response, using the International Consensus Guidance criteria as the reference standard. The area under nonparametric receiver operating characteristic curve (AUC), sensitivity, specificity, and accuracy were calculated to assess the diagnostic efficacy of the Antibody concentration ratio following consecutive immunotherapy relative to initial antibody concentrations for refractory MG. RESULTS: 19 out of 116 patients were unequivocally diagnosed with refractory MG. A significant correlation was found between the Antibody Concentration Ratio and refractory MG status in treatment-refractory and treatment-responsive patients. Subsequently, the AUC demonstrated the robust diagnostic capability of the Antibody concentration ratio for refractory MG, with an AUC of 0.8709 (95% CI: 0.7995-0.9422, p < 0.0001). The optimal cut-off value stood at 0.8903, exhibiting a sensitivity of 94.74% (95% CI: 75.36%-99.73%), a specificity of 68.04% (95% CI: 58.23%-76.48%), and accuracy of 72.41% (95% CI: 64.28%-80.54%). CONCLUSION: Elevated Antibody Concentration Ratio is intrinsically linked with refractory MG and exhibits potential as an diagnostic biomarker for the condition.
RESUMO
We propose a methodology to mitigate angular color variation in full-color micron-scale LED arrays. By simulating light field distribution for red (AlGaAs) and green/blue (GaN) light across various RGB micro-LED sizes, we can select matching light field patterns for RGB chips, reducing angular color variation from 0.0201 to 0.0030. Applying this method to full-color mini-LED assemblies achieves a reduction from 0.0128 to 0.0032 by matching light field patterns with varying substrate thicknesses. This straightforward approach aligns with current mass transfer processes, offering practical implementation.
RESUMO
Leucine-rich repeat kinase 2 (LRRK2) plays an important role in a variety of inflammatory diseases, as well as peripheral and central immune responses. At present, there are few reports about the role of LRRK2 in lung cancer, and need to be further explored. The main purpose of this study is to explore the role and mechanism of LRRK2 in lung cancer. The results revealed that the expression of LRRK2 was increased in the tissues of lung cancer patient and lung cancer cells. Further studies found that interference with LRRK2 expression significantly induced the apoptosis, and promoted the expression of caspase-3, caspase-9, and Bax. More importantly, si-LRRK2 inhibited the expression of VEGF and P-gp, indicating inhibition of cell proliferation and drug resistance. What's more, LRRK2 regulated TLR4/NF-κB signaling pathways and NLRP3 inflammasome, and TLR4/NF-κB pathways was involved in the molecular mechanism of LRRK2 on lung cancer cells. In conclusion, this study suggested that the mechanism of si-LRRK2 inhibiting the progression of lung cancer is to regulate the TLR4/NF-κB signaling pathways and NLRP3 inflammasome.
RESUMO
Poststroke spasticity (PSS) is a common complication that affects function and daily self-care. Conservative PSS treatments include traditional rehabilitation, botulinum toxin injection, and extracorporeal shock wave therapy. Currently, the Modified Ashworth Scale and Modified Tardieu Scale are widely used tools to clinically evaluate spasticity, but the best tool for PSS assessment remained controversial. Ultrasound elastography (UE), including shear wave and strain image as the emerging method to evaluate soft tissue elasticity, became popular in clinical applications. Spastic biceps and gastrocnemius muscles were reported to be significantly stiffer compared to nonparetic muscles or healthy control using shear wave or strain elastography. More studies investigated the utility, reliability, and validity of UE in patients with PSS, but the contemporary consensus for the utility of UE in the measurement and therapeutic follow-up of PSS remained lacking. Therefore, this narrative review aimed to appraise the literature on the shear wave and strain elastography on PSS and summarize the roles of UE in assessing the therapeutic efficacy of different PSS interventions.
RESUMO
Routine blood examination is an easy way to examine infectious diseases. This study is aimed to develop a model to diagnose serious bacterial infections (SBI) in ICU neonates based on routine blood parameters. This was a cross-sectional study, and data were extracted from the Medical Information Mart for Intensive Care III (MIMIC-III). SBI was defined as suffering from one of the following: pyelonephritis, bacteraemia, bacterial meningitis, sepsis, pneumonia, cellulitis, and osteomyelitis. Variables with statistical significance in the univariate logistic regression analysis and log systemic immune-inflammatory index (SII) were used to develop the model. The area under the curve (AUC) was calculated to assess the performance of the model. A total of 1,880 participants were finally included for analysis. Weight, haemoglobin, mean corpuscular volume, white blood cell, monocyte, premature delivery, and log SII were selected to develop the model. The developed model showed a good performance to diagnose SBI for ICU neonates, with an AUC of 0.812 (95% confidence interval (CI): 0.737-0.888). A nomogram was developed to make this model visualise. In conclusion, our model based on routine blood parameters performed well in the diagnosis of neonatal SBI, which may be helpful for clinicians to improve treatment recommendations.
Assuntos
Infecções Bacterianas , Humanos , Recém-Nascido , Infecções Bacterianas/diagnóstico , Infecções Bacterianas/epidemiologia , Infecções Bacterianas/microbiologia , Estudos Transversais , Unidades de Terapia Intensiva NeonatalRESUMO
PURPOSE: Post-stroke dysphagia (PSD) is a common sequela of stroke. Given the association between dysphagia and sarcopenia, we aimed to investigate the association between PSD and temporal muscle thickness (TMT) and masseter muscle thickness (MMT) following endovascular thrombectomy (EVT) in patients with large-vessel occlusion (LVO). METHODS: This retrospective cohort study included hospitalized patients with LVO stroke who underwent EVT between January 1, 2018, and October 31, 2022. TMT and MMT were measured using brain computed tomography (CT) angiography. The correlation between relevant clinicodemographic factors and both TMT and MMT was examined. The relationship between each of two parameters (TMT and MMT) and PSD, which was defined as the retention of the nasogastric (NG) tube at 4 and 12 weeks, was evaluated in adjusted logistic regression models. RESULTS: Among the 148 participants, the mean TMT and MMT was 5.9 ± 1.6 and 11.2 ± 2.3 mm, respectively. Lower age, male sex, higher body mass index (BMI), higher albumin levels, and a lower initial National Institute of Health Stroke Scale (NIHSS) score were associated with higher TMT and MMT (p < 0.05). In the logistic regression analysis adjusted for age, sex, BMI, serum albumin, and NIHSS score, lower TMT and MMT significantly correlated with PSD at weeks 4 and 12 (p < 0.001). CONCLUSION: TMT and MMT are associated with age, sex, BMI, albumin, and the initial NIHSS score. Both TMT and MMT are independent indicators of post-EVT PSD in stroke patients and serve as reliable predictors of NG removal.
Assuntos
Isquemia Encefálica , Transtornos de Deglutição , Procedimentos Endovasculares , Acidente Vascular Cerebral , Humanos , Masculino , Estudos Retrospectivos , Transtornos de Deglutição/diagnóstico por imagem , Transtornos de Deglutição/etiologia , Músculo Masseter , Músculo Temporal , Resultado do Tratamento , Acidente Vascular Cerebral/complicações , Trombectomia/métodos , Albuminas , Procedimentos Endovasculares/métodosRESUMO
BACKGROUND AND OBJECTIVES: To investigate the capacity of clinical nutrition services in secondary and tertiary hospitals in the Sichuan Province, China. METHODS AND STUDY DESIGN: Convenience sampling was used. E-questionnaires were distributed to all eligible medical institutions in Sichuan through the official network of provincial and municipal clinical nutrition quality control centers. The data obtained were sorted in Microsoft Excel and analyzed by SPSS. RESULTS: A total of 519 questionnaires were returned, of which 455 were valid. Only 228 hospitals were accessible to clinical nutrition services, of which 127 hospitals had independently set up clinical nutrition departments (CNDs). The ratio of clinical nutritionists to beds was 1:214. During the last decade, the rate of constructing new CNDs was maintained at approximately 5 units/year. A total of 72.4% of hospitals managed their clinical nutrition units as part of their medical technology departments. The specialist number ratio of senior, associate, intermediate and junior is approximately 1:4:8:10. There were 5 common charges for clinical nutrition. CONCLUSIONS: The sample representation was limited, and the capacity of clinical nutrition services may have been overestimated. Secondary and tertiary hospitals in Sichuan are currently in the second high tide of department establishment, with a positive trend of departmental affiliation standardization and a basic formation of a talent echelon.
Assuntos
Estado Nutricional , Projetos de Pesquisa , Humanos , Centros de Atenção Terciária , ChinaRESUMO
The aims of the present study were to examine the signaling mechanisms for transforming growth factor-ß1 (TGF-ß1)-induced rat airway smooth muscle cells (ASMCs) proliferation and migration and to determine the effect of lipoxin A4 (LXA4) on TGF-ß1-induced rat ASMCs proliferation and migration and its underlying mechanisms. TGF-ß1 upregulated transcriptional coactivator Yes-associated protein (YAP) expression by activating Smad2/3 and then upregulated cyclin D1, leading to rat ASMCs proliferation and migration. This effect was reversed after treatment with the TGF-ß1 receptor inhibitor SB431542. YAP is a critical mediator of TGF-ß1-induced ASMCs proliferation and migration. Knockdown of YAP disrupted the pro-airway remodeling function of TGF-ß1. Preincubation of rat ASMCs with LXA4 blocked TGF-ß1-induced activation of Smad2/3 and changed its downstream targets, YAP and cyclin D1, resulting in the inhibition of rat ASMCs proliferation and migration. Our study suggests that LXA4 suppresses Smad/YAP signaling to inhibit rat ASMCs proliferation and migration and therefore has potential value in the prevention and treatment of asthma by negatively modulating airway remodeling.
Assuntos
Ciclina D1 , Fator de Crescimento Transformador beta1 , Animais , Ratos , Remodelação das Vias Aéreas , Proliferação de Células , Ciclina D1/genética , Ciclina D1/metabolismo , Miócitos de Músculo Liso/metabolismo , Fator de Crescimento Transformador beta1/metabolismoRESUMO
The investigation on antibiotic stewardship in neonatal intensive care unit in China is scarce. This study aimed to analyze the effect of a comprehensive 2-year antibiotic stewardship in a level 4 NICU. During this baseline period from October 1st 2017 to October 1st 2019, continuation of empirical antibiotic therapy for ruled-out sepsis courses was beyond 72 h and for pneumonia was more than 7 days. Meropenem or vancomycin was used even if they were not the only bacterial sensitive antibiotics. The intervention period was from October 2nd 2019 to August 23rd 2021. Three areas for quality improvement were targeted in our center: discontinuation of antibiotic use in ruled-out sepsis within 72 h, treatment duration for culture-negative pneumonia less than 7 days, and vancomycin or meropenem was not used unless the cultured bacteria was only susceptible to them. The total antibiotic consumption decreased from 791.1 to 466.3 days of therapy per 1000 patient days from baseline to intervention period. Antibiotics were stopped within 72 h for 47.48% patients with rule-out sepsis and within 7 days for 75.70% patients with pneumonia compared with 11.56% and 37.69% during the baseline period respectively. The prevalence of multi-drug resistance bacteria decreased from 67.20 to 48.90%. The total use rate of meropenem or vancomycin decreased from 7.6 to 1.8%. Our quality improvement approach on antibiotic strategy significantly reduced antibiotic use and prevalence of multi-drug resistance bacteria in our NICU.
Assuntos
Infecções Bacterianas , Sepse , Recém-Nascido , Humanos , Antibacterianos/farmacologia , Vancomicina/uso terapêutico , Unidades de Terapia Intensiva Neonatal , Sepse/microbiologia , Meropeném/uso terapêutico , Infecções Bacterianas/tratamento farmacológico , Farmacorresistência Bacteriana MúltiplaRESUMO
Malignant peripheral nerve sheath tumor (MPNST) is a rare tumor that can develop on the lining of nerves and within the network of nerve fibers in different organs, and it is commonly found in the head and neck, limbs, and trunk. These tumors can occur in patients of any age. They most commonly occur in adults aged 20 to 50 years; however, fewer cases of this tumor in children have been reported. To date, no neonatal case of MPNST in the nasal cavity has been reported. Here, we report the case of a 4-day-old female newborn who presented with a nasal mass that re-enlarged after surgery and was diagnosed as MPNST of the nasal cavity on the basis of pathological results. This is the first report of MPNST in the nasal cavity of a neonate. Differential diagnosis and treatment of nasal masses have been proposed in the related literature.
Assuntos
Neoplasias de Bainha Neural , Neurofibrossarcoma , Adulto , Criança , Recém-Nascido , Humanos , Feminino , Neoplasias de Bainha Neural/diagnóstico , Neoplasias de Bainha Neural/cirurgia , Neoplasias de Bainha Neural/patologia , Cavidade Nasal/patologiaRESUMO
BACKGROUND: Constipation has been hypothesized to be associated with the increased risk of wheezing or asthma. However, the relation remains a subject of debate. We conducted this meta-analysis to assess whether constipation influences the risk of wheezing/asthma. METHODS: PubMed, Embase, and Web of Science were systematically searched for studies published between 1955 and January 2022. Two reviewers independently extracted data and assessed the quality of each study. Results were pooled using fixed-effects models or random-effects models as appropriate. RESULTS: In total, 3 original articles with 178,661 participants, which met the criteria, were included in this meta-analysis. Constipation was associated with an increased risk of wheezing/asthma in later life (RR = 2.02, 95% CI = 1.24-3.29, P < 0.01). CONCLUSIONS: The meta-analysis suggests an association between constipation and the subsequent development of wheezing/asthma. Well-designed and highly standardized prospective studies that adequately address concerns for potential confounding factors are required to validate the risk identified in our current meta-analysis.
RESUMO
Lung cancer is the leading cause of cancer-related mortality worldwide and cigarette smoking is reported to contribute to the lung cancer-related mortality. The present study aimed to investigate the molecular mechanism underlying nicotine-induced chemoresistance in lung cancer. The expression of microRNA (miR)-21-3p and its predicted target FOXO3a in lung cancer cells was detected via reverse transcription-quantitative PCR, in the presence or absence of nicotine. The regulatory effect of miR-21-3p and FOXO3a on lung cancer cell proliferation and apoptosis induced by docetaxel or cisplatin treatment was evaluated by performing Cell Counting Kit-8 and Annexin V/PI staining assays, respectively. The interaction between miR-21-3p and FOXO3a was analyzed by performing luciferase reporter assays and western blotting. FOXO3a overexpression rescue experiments were conducted in vitro and in vivo using a xenograft mouse model to assess the function of miR-21-3p/FOXO3a in lung cancer. Nicotine induced miR-21-3p expression in lung cancer cells in a dose-dependent manner. miR-21-3p downregulated FOXO3a expression by directly binding to the 3'-untranslated region of FOXO3a. Moreover, miR-21-3p knockdown sensitized lung cancer cells to docetaxel or cisplatin treatment. Mechanistically, FOXO3a was predicted as a direct target of miR-21-3p. FOXO3a overexpression promoted the chemosensitivity of lung cancer cells to docetaxel or cisplatin treatment. Furthermore, FOXO3a overexpression antagonized the regulatory function of miR-21-3p on docetaxel- or cisplatin-treated lung cancer cells. In the docetaxel- or cisplatin-treated lung cancer xenograft mouse model, miR-21-3p promoted chemoresistance via negatively regulating FOXO3a. Therefore, the present study demonstrated that nicotine-induced miR-21-3p promoted chemoresistance to docetaxel or cisplatin treatment via negatively regulating FOXO3a, which may serve as a novel therapeutic strategy for the treatment of patients with chemoresistant lung cancer.
RESUMO
Background: Minimal manifestation status (MMS) is an important landmark in the treatment of myasthenia gravis (MG), and predictors of MMS induction have rarely been identified in previous studies. Objective: The objective of this study is to evaluate the clinical factors associated with MMS induction among patients with MG. Design: This two-step retrospective cohort study with a single center investigated the factors that may be associated with MMS induction and retested these predictors in a test cohort. Methods: A total of 388 diagnosed MG patients who visited Xiangya Hospital between 1 July 2015 and 1 July 2019 were involved. We performed detailed chart reviews and recorded all cases achieving MMS. Demographics and clinical characteristics were also collected and their relationships to achieving MMS were investigated. Results: MMS was achieved in 124 patients (50.2%), and the median time to achieve MMS was 26 months. Several factors were found to be associated with MMS induction in exploring cohort, including muscle-specific tyrosine-protein kinase receptor (MuSK) antibody positivity (adjusted hazard ratio, HRâ=â4.333, 95% confidence interval, CI: 1.862-10.082), isolated ocular involvement (adjusted HRâ=â1.95, 95% CI: 1.284-2.961), and low baseline quantitative myasthenia gravis score (QMG score; adjusted HRâ=â2.022, 95% CI: 1.086-3.764). These factors were then retested in the test cohort. Isolated ocular involvement or low baseline QMG scores were factors found to be beneficial for MMS induction were confirmed. Conclusion: Isolated ocular involvement and low baseline QMG score are predictors of MMS induction in MG patients.
RESUMO
Biofilm formation is easily found in patients suffered from ventilator-associated pneumonia (VAP) in neonatal intensive care unit (NICU) and makes the VAP infections not only harder to be treated but easier to relapse. In order to find some novel ways to inhibit biofilm formation, this study describe a previously unrecognized role for the human umbilical cord mesenchymal stem cells (hUCMSCs). In addition to multiple differentiation, hUCMSCs have the ability to prevent the biofilms formation in vitro by secreting antibacterial peptides (LL-37 and hBD-2). This occurred while P. aeruginosa PA27853 and hUCMSCs were cocultured, and the filtrated medium, which was the supernatant containing antibacterial peptides (5.9 ng/ml of LL-37, 1.77 ng/ml of hBD-2), and inhibited the growth of the bacterial biofilm on the surface of tracheal tube (2.5#, for preterm infant). Using microarrays, we were able to demonstrate that the antibacterial peptides from hUCMSC affected biofilm formation by downregulating the gene-encoded polysaccharide biosynthesis protein. In addition, in order to find out the most suitable concentration of hUCMSCs, P. aeruginosa was cocultured with eight-level concentrations of hUCMSCs, and we found that the concentration of LL-37 was positively correlated with the concentration of hUCMSCs. Meanwhile, the concentration of LL-37 became stable while the hUCMSC concentration reaches higher than 5 × 106 cells/ml. But the concentration of hBD-2 had no significant correlation with hUCMSCs. The collection of these stem cells is not only limited by ethics but also reduces host rejection. This makes it possible to use autologous hUCMSCs to treat neonatal VAP.
Assuntos
Células-Tronco Mesenquimais , Cordão Umbilical , Antibacterianos/metabolismo , Biofilmes , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Células-Tronco Mesenquimais/metabolismoRESUMO
Odorant-binding proteins (OBPs) play a key role in the olfactory system and are essential for mating and oviposition host selection. Tirathaba rufivena, a serious lepidopterous insect pest of the palm area in recent years, has threatened cultivations of Areca catechu in Hainan. Female-biased odorant-binding protein 4 of T. rufivena (TrufOBP4) expression was hypothesized to participate in the process of oviposition host recognition and localization. In this study, we cloned and analyzed the cDNA sequence of TrufOBP4. The predicted mature protein TrufOBP4 is a small, soluble, secretory protein and belongs to a classic OBP subfamily. Fluorescence binding assay results showed that TrufOBP4 had high binding abilities with the host plant volatiles, octyl methoxycinnamate, dibutyl phthalate, myristic acid and palmitic acid. These four components tend to dock in the same binding pocket based on the molecular docking result. The interactions and contributions of key amino acid residues were also characterized. This research provides evidence that TrufOBP4 might participate in the chemoreception of volatile compounds from inflorescences of A. catechu and can contribute to the integrated management of T. rufivena.
RESUMO
BACKGROUND: In patients with atrial fibrillation (AF) and acute coronary syndrome (ACS) or undergoing percutaneous coronary intervention (PCI), choosing the most appropriate antithrombotic treatment remains a dilemma. We aimed to compare the relative efficacy and safety outcomes of antithrombotic drugs in patients with AF after undergoing PCI or ACS. METHODS: Randomized controlled trials were systematically searched on PubMed, EMBASE, and the Cochrane Library. Five studies (11,532 patients) were included in the network meta-analysis. Trial sequential analysis (TSA) was performed to assess the reliability and conclusiveness of the meta-analysis comparing the dual antithrombotic therapy strategies with the triple antithrombotic therapy strategy. RESULTS: Compared with vitamin K antagonist + dual antiplatelet therapy, novel oral anticoagulant (NOAC) + P2Y12 inhibitor was associated with a significantly better trial-defined primary safety outcome (odds ratio: 0.53; 95% CI, 0.31-0.90) and the lowest probability of thrombolysis in myocardial infarction major bleeding and intracranial hemorrhage using the cumulative ranking technique. In patients omitting aspirin, TSA demonstrated conclusive evidence with significant decreases in all safety outcomes and inconclusive evidence with a nonsignificant increase in in-stent thrombosis (risk ratio: 1.32; TSA-adjusted 95% CI, 0.54-3.24) and myocardial infarction (risk ratio: 1.19; TSA-adjusted 95% CI, 0.84-1.68). CONCLUSIONS: In patients with AF receiving PCI or with ACS, NOAC + P2Y12 inhibitor was associated with the lowest bleeding risk but resulted in a statistically nonsignificant, numerically greater risk for stent thrombosis and myocardial infarction, suggesting that triple antithrombotic therapy should still be an option for certain patients at a high risk of stent thrombosis or myocardial infarction.
Assuntos
Síndrome Coronariana Aguda/cirurgia , Fibrilação Atrial/cirurgia , Ensaios Clínicos como Assunto/organização & administração , Intervenção Coronária Percutânea , Idoso , Feminino , Humanos , Masculino , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the HSD17B4 gene. This article reports a case of D-bifunctional protein deficiency caused by HSD17B4 gene mutation and summarizes the epidemiological and clinical features, diagnosis, and treatment of this disease, with a focus on the differential diagnosis of this disease from Ohtahara syndrome.
Assuntos
Hipotonia Muscular , Deficiência de Proteína , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Mutação , Proteína Multifuncional do Peroxissomo-2/genética , Deficiência de Proteína/genéticaRESUMO
STUDY DESIGN: Retrospective cohort study with 10 years follow-up. OBJECTIVE: To compare the risks of sensorineural hearing loss in patients with and without spinal cord injury, based on a nationally representative sample. SETTING: Taiwan's Longitudinal Health Insurance Database 2005. METHOD: A total of 2006 participants who had been aged between 20 and 69 and who had spinal cord injury as of 2002-06 were enrolled in the spinal cord injury group. The non-spinal cord injury group consisted of 8024 sex- and age-matched, randomly sampled participants without spinal cord injury. Then, their sensorineural hearing loss -cumulative incidence curves were generated using the Kaplan-Meier method. Stratified Cox proportional-hazard regression was employed to estimate the effect of having spinal cord injury on patients' subsequent risk of sensorineural hearing loss. RESULTS: During the follow-up, 30 patients in the spinal cord injury group and 87 in the non-spinal cord injury group developed sensorineural hearing loss. As such, the cumulative incidence of sensorineural hearing loss was significantly higher in the spinal cord injury group than the non-spinal cord injury group (2.16 vs. 1.21 per 1000 person-years, p = 0.008). The adjusted hazard ratio of sensorineural hearing loss for the spinal cord injury group was 1.75 times that of the non-spinal cord injury group (95% CI, 1.14-2.68, p = 0.01). The patients with non-cervical SCI appeared to have a higher magnitude of SNHL risk than their cervical SCI counterparts. CONCLUSION: Our study showed that patients with spinal cord injury have an increased risk of developing sensorineural hearing loss.