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Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, and 3, respectively. However, some clinicopathologically confirmed OPDM cases continue to have unknown genetic causes. Here, through a combination of long-read whole-genome sequencing (LRS), repeat-primed polymerase chain reaction (RP-PCR), and fluorescence amplicon length analysis PCR (AL-PCR), we found that a CGG repeat expansion in the 5' UTR of RILPL1 is associated with familial and simplex OPDM type 4 (OPDM4). The number of repeats ranged from 139 to 197. Methylation analysis indicates that the methylation levels in RILPL1 were unaltered in OPDM4 individuals. Analyses of muscle biopsies suggested that the expanded CGG repeat might be translated into a toxic poly-glycine protein that co-localizes with p62 in intranuclear inclusions. Moreover, analyses suggest that the toxic RNA gain-of-function effects also contributed to the pathogenesis of this disease. Intriguingly, all four types of OPDM have been found to be associated with the CGG repeat expansions located in 5' UTRs. This finding suggests that a common pathogenic mechanism, driven by the CGG repeat expansion, might underlie all cases of OPDM.
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Distrofias Musculares , Expansión de Repetición de Trinucleótido , Regiones no Traducidas 5' , Proteínas Adaptadoras Transductoras de Señales , Humanos , Cuerpos de Inclusión Intranucleares/genética , Distrofias Musculares/genética , Expansión de Repetición de Trinucleótido/genéticaRESUMEN
BACKGROUND: Dysbiosis of gut microbiota plays a pivotal role in vascular dysfunction and microbial diversity was reported to be inversely correlated with arterial stiffness. However, the causal role of gut microbiota in the progression of arterial stiffness and the specific species along with the molecular mechanisms underlying this change remain largely unknown. METHODS: Participants with elevated arterial stiffness and normal controls free of medication were matched for age and sex. The microbial composition and metabolic capacities between the 2 groups were compared with the integration of metagenomics and metabolomics. Subsequently, Ang II (angiotensin II)-induced and humanized mouse model were employed to evaluate the protective effect of Flavonifractor plautii (F plautii) and its main effector cis-aconitic acid. RESULTS: Human fecal metagenomic sequencing revealed a significantly high abundance and centrality of F plautii in normal controls, which was absent in the microbial community of subjects with elevated arterial stiffness. Moreover, blood pressure only mediated part of the effect of F plautii on lower arterial stiffness. The microbiome of normal controls exhibited an enhanced capacity for glycolysis and polysaccharide degradation, whereas, those of subjects with increased arterial stiffness were characterized by increased biosynthesis of fatty acids and aromatic amino acids. Integrative analysis with metabolomics profiling further suggested that increased cis-aconitic acid served as the main effector for the protective effect of F plautii against arterial stiffness. Replenishment with F plautii and cis-aconitic acid improved elastic fiber network and reversed increased pulse wave velocity through the suppression of MMP-2 (matrix metalloproteinase-2) and inhibition of MCP-1 (monocyte chemoattractant protein-1) and NF-κB (nuclear factor kappa-B) activation in both Ang II-induced and humanized model of arterial stiffness. CONCLUSIONS: Our translational study identifies a novel link between F plautii and arterial function and raises the possibility of sustaining vascular health by targeting gut microbiota.
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Metaloproteinasa 2 de la Matriz , Rigidez Vascular , Animales , Ratones , Humanos , Rigidez Vascular/fisiología , Análisis de la Onda del Pulso , Ácido Aconítico/farmacologíaRESUMEN
OBJECTIVES: Dermatomyositis (DM) is a rare type I interferon (IFN-I)-driven autoimmune disease, and anti-nuclear matrix protein 2 (NXP2) antibody is related to severe muscle disease and poor prognosis. Circulating cell-free DNA (ccf-DNA), including ccf-mitochondrial DNA and ccf-nuclear DNA, activates cGAS/STING pathway to induce IFN-I production in autoimmune diseases. We investigated whether serum-derived ccf-DNA played a pathogenic role on skeletal muscle in anti-NXP2 antibody-positive DM. METHODS: Serum ccf-DNA levels were measured, and correlations between ccf-DNA and clinicopathological indicators were performed. RNA sequencing, immunofluorescence, western blotting and RT-qPCR were performed on skeletal muscle samples. The serum-induced expression of p-STING in C2C12 cells was assessed in vitro. RESULTS: We found that increased ccf-DNA levels were positively correlated with MYOACT scores in anti-NXP2 antibody-positive DM. RNA sequencing and immunofluorescence results revealed that the cytosolic DNA-sensing pathway was upregulated and that increased cytosolic dsDNA was colocalised with cGAS in skeletal muscle in anti-NXP2 antibody-positive DM. Western blot analysis revealed activation of the cGAS/STING pathway in patients with perifascicular atrophy (PFA) but not in patients without PFA. RT-qPCR showed increased IFN-I scores in both patients with PFA and patients without PFA. Sera from patients with PFA increased p-STING expression in C2C12 cells, and DNase I treatment and STING inhibitor efficiently inhibited p-STING expression, respectively. CONCLUSIONS: Increased ccf-DNA levels may be potential biomarkers for monitoring disease activity in anti-NXP2 antibody-positive DM. Activation of the cGAS/STING pathway is associated with PFA. Our findings identify the pathogenic role of ccf-DNA on skeletal muscle via the cGAS/STING pathway.
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Protein S-acylation is an important post-translational modification in eukaryotes, regulating the subcellular localization, trafficking, stability, and activity of substrate proteins. The dynamic regulation of this reversible modification is mediated inversely by protein S-acyltransferases and de-S-acylation enzymes, but the de-S-acylation mechanism remains unclear in plant cells. Here, we characterized a group of putative protein de-S-acylation enzymes in Arabidopsis thaliana, including 11 members of Alpha/Beta Hydrolase Domain-containing Protein 17-like acyl protein thioesterases (ABAPTs). A robust system was then established for the screening of de-S-acylation enzymes of protein substrates in plant cells, based on the effects of substrate localization and confirmed via the protein S-acylation levels. Using this system, the ABAPTs, which specifically reduced the S-acylation levels and disrupted the plasma membrane localization of five immunity-related proteins, were identified respectively in Arabidopsis. Further results indicated that the de-S-acylation of RPM1-Interacting Protein 4, which was mediated by ABAPT8, resulted in an increase of cell death in Arabidopsis and Nicotiana benthamiana, supporting the physiological role of the ABAPTs in plants. Collectively, our current work provides a powerful and reliable system to identify the pairs of plant protein substrates and de-S-acylation enzymes for further studies on the dynamic regulation of plant protein S-acylation.
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Arabidopsis/enzimología , Ensayos Analíticos de Alto Rendimiento/instrumentación , Hidrolasas/química , Células Vegetales/enzimología , Proteínas de Plantas/análisis , AcilaciónRESUMEN
BACKGROUND: Coronavirus disease 2019 (COVID-19) has been a great concern since 2019. Patients with myasthenia gravis (MG) may be at higher risk of COVID-19 and a more severe disease course. We examined the associations between COVID-19 and MG. METHODS: This single-center retrospective cohort study involved 134 patients who were diagnosed with MG from June 2020 to November 2022 and followed up until April 2023. They were divided into a COVID-19 group and non-COVID-19 group. Logistic regression analysis was used to detect factors potentially associating COVID-19 with MG. RESULTS: Of the 134 patients with MG, 108 (80.6%) had COVID-19. A higher number of comorbidities was significantly associated with an increased risk of COVID-19 (p = 0.040). A total of 103 patients (95.4%) had mild/moderate COVID-19 symptoms, and 4 patients (3.7%) were severe/critical symptoms (including 2 deaths). Higher age (p = 0.036), use of rituximab (p = 0.037), tumors other than thymoma (p = 0.031), Hashimoto's thyroiditis (p = 0.011), more comorbidities (p = 0.002), and a higher baseline MG activities of daily living (MG-ADL) score (p = 0.006) were risk factors for severe COVID-19 symptoms. The MG-ADL score increased by ≥ 2 points in 16 (15.7%) patients. Dry cough and/or expectoration (p = 0.011), use of oral corticosteroids (p = 0.033), and use of more than one kind of immunosuppressant (p = 0.017) were associated with the increase of the post-COVID-19 MG-ADL score. CONCLUSION: Most patients with MG have a mild course of COVID-19. However, patients with older age, many comorbidities, a high MG-ADL score, and use of a variety of immunosuppressants during COVID-19 may be more prone to severe symptoms.
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COVID-19 , Comorbilidad , Miastenia Gravis , Humanos , Miastenia Gravis/epidemiología , COVID-19/complicaciones , COVID-19/epidemiología , Masculino , Femenino , Estudios Retrospectivos , Persona de Mediana Edad , China/epidemiología , Adulto , Anciano , SARS-CoV-2 , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
Bismuth and rare earth elements have been identified as effective substituent elements in the iron garnet structure, allowing an enhancement in magneto-optical response by several orders of magnitude in the visible and near-infrared region. Various mechanisms have been proposed to account for such enhancement, but testing of these ideas is hampered by a lack of suitable experimental data, where information is required not only regarding the lattice sites where substituent atoms are located but also how these atoms affect various order parameters. Here, we show for a Bi-substituted lutetium iron garnet how a suite of advanced electron microscopy techniques, combined with theoretical calculations, can be used to determine the interactions between a range of quantum-order parameters, including lattice, charge, spin, orbital, and crystal field splitting energy. In particular, we determine how the Bi distribution results in lattice distortions that are coupled with changes in electronic structure at certain lattice sites. These results reveal that these lattice distortions result in a decrease in the crystal-field splitting energies at Fe sites and in a lifted orbital degeneracy at octahedral sites, while the antiferromagnetic spin order remains preserved, thereby contributing to enhanced magneto-optical response in bismuth-substituted iron garnet. The combination of subangstrom imaging techniques and atomic-scale spectroscopy opens up possibilities for revealing insights into hidden coupling effects between multiple quantum-order parameters, thereby further guiding research and development for a wide range of complex functional materials.
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With the development of agricultural information technology, the Internet of Things and blockchain have become important in the traceability of agricultural products. Sensors collect real-time data in agricultural production and a blockchain provides a secure and transparent storage medium for these data, which improves the transparency and credibility of agricultural product traceability. However, existing agricultural product traceability solutions are limited by the immutability of the blockchain, making it difficult to delete erroneous data and modify the scope of data sharing. This damages the credibility of traceability data and is not conducive to the exchange and sharing of information among enterprises. In this article, we propose an agricultural product traceability data management scheme based on a redactable blockchain. This scheme allows agricultural enterprises to encrypt data to protect privacy. In order to facilitate the maintenance and sharing of data, we introduce a chameleon hash function to provide data modification capabilities. Enterprises can fix erroneous data and update the access permissions of the data. To improve the efficiency of block editing, our scheme adopts a distributed block editing method. This method supports threshold editing operations, avoiding single-point-of-failure issues. We save records of data modifications on the blockchain and establish accountability mechanisms to identify malicious entities. Finally, in this paper we provide a security analysis of our proposed solution and verify its effectiveness through experiments. Compared with the existing scheme, the block generating speed is improved by 42% and the block editing speed is improved by 29.3% at 125 nodes.
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Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs) in the muscle fibers and myopathic changes of differing severity. Inheritance is variable, with either putative autosomal-dominant or autosomal-recessive pattern. Here, using a comprehensive strategy combining whole-genome sequencing (WGS), long-read whole-genome sequencing (LRS), linkage analysis, repeat-primed polymerase chain reaction (RP-PCR), and fluorescence amplicon length analysis polymerase chain reaction (AL-PCR), we identified an abnormal GGC repeat expansion in the 5' UTR of GIPC1 in one out of four families and three sporadic case subjects from a Chinese OPDM cohort. Expanded GGC repeats were further confirmed as the cause of OPDM in an additional 2 out of 4 families and 6 out of 13 sporadic Chinese individuals with OPDM, as well as 7 out of 194 unrelated Japanese individuals with OPDM. Methylation, qRT-PCR, and western blot analysis indicated that GIPC1 mRNA levels were increased while protein levels were unaltered in OPDM-affected individuals. RNA sequencing indicated p53 signaling, vascular smooth muscle contraction, ubiquitin-mediated proteolysis, and ribosome pathways were involved in the pathogenic mechanisms of OPDM-affected individuals with GGC repeat expansion in GIPC1. This study provides further evidence that OPDM is associated with GGC repeat expansions in distinct genes and highly suggests that expanded GGC repeat units are essential in the pathogenesis of OPDM, regardless of the genes in which the expanded repeats are located.
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Proteínas Adaptadoras Transductoras de Señales/genética , Distrofias Musculares/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Cromosomas Humanos Par 19/genética , Metilación de ADN , Femenino , Humanos , Escala de Lod , Masculino , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Distrofias Musculares/patología , Distrofias Musculares/fisiopatología , Linaje , RNA-Seq , Expansión de Repetición de Trinucleótido/genética , Proteína p53 Supresora de Tumor/metabolismo , Adulto JovenRESUMEN
BACKGROUND: Patients with early esophageal squamous cell neoplasias (ESCNs) that are totally or nearly totally circumferential face challenges in their clinical work. Endoscopic submucosal dissection (ESD) frequently leads to esophageal strictures. Endoscopic radiofrequency ablation (RFA), which stands out for its simplicity of use and low rate of stenosis, is a rapidly evolving therapeutic strategy for early ESCNs. We contrast ESD with RFA in order to find which method is best for the treatment of a wide range of esophageal diseases. METHODS: Patients who had flat-type, early, large ESCNs (extending more than 3/4 of the esophageal circumference) treated endoscopically were enrolled retrospectively. The primary outcome measurements were adverse events and local control of the neoplastic lesion. RESULTS: A total of 105 patients received treatment; 60 had ESD and 45 received RFA. Despite the patients receiving RFA typically having larger tumors (14.27 vs. 5.70 cm, P < 0.05), the local control of the neoplastic lesion and procedure-related complications were comparable between the ESD and RFA groups. A considerably higher risk of esophageal stenosis was observed in patients with extensive lesions in the ESD group compared to the RFA group (60% vs. 31%; P < 0.05), and the rate of refractory stricture is also higher than that of the RFA. CONCLUSION: Both RFA and ESD are effective in treating large, flat, early ESCNs; however, ESD is more likely to cause side effects, such as esophageal stricture, particularly in lesions that are larger than 3/4 of the diameter. Before RFA, a more precise and thorough pretreatment examination should be performed. A more accurate pretreatment evaluation will be an important development direction for early esophageal cancer in future. After surgery, a strict routine review is crucial.
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Carcinoma de Células Escamosas , Resección Endoscópica de la Mucosa , Neoplasias Esofágicas , Estenosis Esofágica , Ablación por Radiofrecuencia , Humanos , Carcinoma de Células Escamosas/cirugía , Resección Endoscópica de la Mucosa/efectos adversos , Resección Endoscópica de la Mucosa/métodos , Estudios Retrospectivos , Neoplasias Esofágicas/patología , Células Epiteliales/patología , Ablación por Radiofrecuencia/efectos adversos , Estenosis Esofágica/etiología , Resultado del TratamientoRESUMEN
OBJECTIVES: To evaluate MRI changes to define muscle-lesion specific patterns in patients with antisynthetase syndrome (ASS), and compare them with those in other common idiopathic inflammatory myopathy subtypes. METHODS: Qualitative and semi-quantitative thigh MRI evaluations were conducted in patients with ASS, DM and immune-mediated necrotizing myopathy (IMNM). RESULTS: This study included 51 patients with ASS, 56 with DM and 61 with IMNM. Thigh MRI revealed muscle oedema (62.7%), myofascial oedema (90.2%), subcutaneous-tissue oedema (60.8%) and fatty infiltration of muscles (68.6%) in patients with ASS. Compared with IMNM, ASS and DM were associated with more frequent adductor-muscle relative sparing (40.6% vs 3.6%, P<0.001, and 25.6% vs 3.6%, P<0.001) and subcutaneous-tissue oedema (60.8% vs 23.0%, P<0.001, and 57.1% vs 23.0%, P<0.001). Although ASS and DM exhibited similar oedema patterns, there were certain subtle differences between them. The ASS group was less frequently symmetric (60.6% vs 88.4%, P=0.005, and 60.6% vs 80.0%, P=0.048), but more frequently showed myofascial oedema of the tensor fasciae latae (80.4% vs 48.2%, P<0.001, and 80.4% vs 31.1%, P<0.001) than either the DM or IMNM groups. The receiver operating characteristic curve analysis showed an optimal combination of thigh MRI findings had an area under the curve with 0.893 for diagnosing ASS. CONCLUSION: Thigh MRI in ASS exhibited frequent myofascial oedema. ASS oedema patterns resembled those of DM more than those of IMNM. Bilateral asymmetry, adductor-muscle relative sparing and remarkable myofascial oedema of tensor fasciae latae were the most characteristic ASS imaging findings.
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Enfermedades Autoinmunes , Dermatomiositis , Miositis , Humanos , Autoanticuerpos , Enfermedades Autoinmunes/complicaciones , Dermatomiositis/complicaciones , Dermatomiositis/diagnóstico por imagen , Edema/patología , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/patología , Miositis/complicaciones , Miositis/diagnóstico por imagen , Muslo/diagnóstico por imagen , Muslo/patologíaRESUMEN
Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement. Trinucleotide repeat expansions in LRP12 or GIPC1 were recently reported to be associated with OPDM. However, a significant portion of OPDM patients have unknown genetic causes. In this study, long-read whole-genome sequencing and repeat-primed PCR were performed and we identified GGC repeat expansions in the NOTCH2NLC gene in 16.7% (4/24) of a cohort of Chinese OPDM patients, designated as OPDM type 3 (OPDM3). Methylation analysis indicated that methylation levels of the NOTCH2NLC gene were unaltered in OPDM3 patients, but increased significantly in asymptomatic carriers. Quantitative real-time PCR analysis indicated that NOTCH2NLC mRNA levels were increased in muscle but not in blood of OPDM3 patients. Immunofluorescence on OPDM muscle samples and expressing mutant NOTCH2NLC with (GGC)69 repeat expansions in HEK293 cells indicated that mutant NOTCH2NLC-polyglycine protein might be a major component of intranuclear inclusions, and contribute to toxicity in cultured cells. In addition, two RNA-binding proteins, hnRNP A/B and MBNL1, were both co-localized with p62 in intranuclear inclusions in OPDM muscle samples. These results indicated that a toxic protein gain-of-function mechanism and RNA gain-of-function mechanism may both play a vital role in the pathogenic processes of OPDM3. This study extended the spectrum of NOTCH2NLC repeat expansion-related diseases to a predominant myopathy phenotype presenting as OPDM, and provided evidence for possible pathogenesis of these diseases.
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Distrofias Musculares/genética , Expansión de Repetición de Trinucleótido/genética , Pueblo Asiatico/genética , China , Estudios de Cohortes , Femenino , Humanos , Masculino , Distrofias Musculares/patología , LinajeRESUMEN
Green citrus detection in citrus orchards provides reliable support for production management chains, such as fruit thinning, sunburn prevention and yield estimation. In this paper, we proposed a lightweight object detection YOLOv5-CS (Citrus Sort) model to realize object detection and the accurate counting of green citrus in the natural environment. First, we employ image rotation codes to improve the generalization ability of the model. Second, in the backbone, a convolutional layer is replaced by a convolutional block attention module, and a detection layer is embedded to improve the detection accuracy of the little citrus. Third, both the loss function CIoU (Complete Intersection over Union) and cosine annealing algorithm are used to get the better training effect of the model. Finally, our model is migrated and deployed to the AI (Artificial Intelligence) edge system. Furthermore, we apply the scene segmentation method using the "virtual region" to achieve accurate counting of the green citrus, thereby forming an embedded system of green citrus counting by edge computing. The results show that the mAP@.5 of the YOLOv5-CS model for green citrus was 98.23%, and the recall is 97.66%. The inference speed of YOLOv5-CS detecting a picture on the server is 0.017 s, and the inference speed on Nvidia Jetson Xavier NX is 0.037 s. The detection and counting frame rate of the AI edge system-side counting system is 28 FPS, which meets the counting requirements of green citrus.
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Inteligencia Artificial , Citrus , Algoritmos , Computadores , FrutasRESUMEN
Florescence information monitoring is essential for strengthening orchard management activities, such as flower thinning, fruit protection, and pest control. A lightweight object recognition model using cascade fusion YOLOv4-CF is proposed, which recognizes multi-type objects in their natural environments, such as citrus buds, citrus flowers, and gray mold. The proposed model has an excellent representation capability with an improved cascade fusion network and a multi-scale feature fusion block. Moreover, separable deep convolution blocks were employed to enhance object feature information and reduce model computation. Further, channel shuffling was used to address missing recognition in the dense distribution of object groups. Finally, an embedded sensing system for recognizing citrus flowers was designed by quantitatively applying the proposed YOLOv4-CF model to an FPGA platform. The mAP@.5 of citrus buds, citrus flowers, and gray mold obtained on the server using the proposed YOLOv4-CF model was 95.03%, and the model size of YOLOv4-CF + FPGA was 5.96 MB, which was 74.57% less than the YOLOv4-CF model. The FPGA side had a frame rate of 30 FPS; thus, the embedded sensing system could meet the demands of florescence information in real-time monitoring.
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Citrus , Algoritmos , Computadores , Flores , FrutasRESUMEN
Chromium(III)-based metal-organic frameworks (Cr-MOFs) are highly robust and porous and have been very attractive in a wide range of investigations. However, the harsh direct synthetic conditions not only impede the synthesis of new Cr-MOFs but also restrict the introduction of functional groups into them. Postsynthetic modification has somewhat alleviated such difficulties; nevertheless, it still suffered from procedures that are tedious and conditions that are not mild, which often result in low concentration of the functional groups introduced. To overcome these shortcomings, here, in this paper, we supplied a new route and prepared a benzyl alcohol functionalized Cr-SXU-2 from the judiciously designed benzyl alcohol functionalized Fe-SXU-2 through solvent-assisted metal metathesis strategy. The functionalized Cr-SXU-2 shows well-preserved crystallinity, porosity, and high chemical stability. The benzyl alcohol group can be converted into a very active benzyl bromide group in an almost quantitative yield and thus for the first time produce the benzyl bromide functionalized MOF, Cr-SXU-2-Br, in which the -Br group can be exchanged by a nucleophilic group. As a proof of concept, -N3 was introduced and transformed into other active sites via "click reaction" to further tailor the interior of Cr-SXU-2. All these functionalized Cr-MOFs showed improved adsorption performance in contrast to the nonfunctionalized one. This step-by-step postmodification process not only diversifies the functionalization of robust MOFs but also opens a new route to employ many different functional groups in the demanding highly stable Cr-MOF platforms.
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Defensins are the most diverse groups of antimicrobial peptides in invertebrate animals. In ticks, defensins show great potential as targets for tick control, and display future prospect for therapeutic drug development. In the present study, a novel defensin-like gene (Ds-defensin) contributing to the antimicrobial and antioxidant capacity of the tick Dermacentor silvarum was characterized. The full-length of the Ds-defensin gene was 382 bp, which displayed tissue-specific expression and was highly abundant in the salivary glands and carcasses of the adults. It encodes a 71-amino acid defensin-like protein, and the protein precursor is characterized by a 22-amino acid signal peptide and a 34-amino acid mature peptide. The peptide displayed potent activity against most of the tested gram-positive bacteria, including Staphylococcus aureus, S. carnosus and Nocardia asteroides, and one tested gram-negative bacterium, Psychrobacter faecalis. Scanning electron microscopy revealed that the cell wall and surface of treated bacteria became rough and gradually formed pores after a 30-min exposure to the Ds-defensin peptide. Additionally, the peptide also showed significant antioxidant capacity. The above results implied that the defensin-like peptide may play an important role in tick defense and the interaction with microorganisms.
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Antiinfecciosos , Dermacentor , Ixodidae , Secuencia de Aminoácidos , Animales , Antiinfecciosos/farmacología , Antioxidantes , Defensinas/genética , Péptidos , PsychrobacterRESUMEN
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. CASE PRESENTATION: An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient's serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. CONCLUSIONS: MADD should be considered when evaluating elderly patients with subacute muscle weakness.
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Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/diagnóstico , Debilidad Muscular/etiología , Miositis/diagnóstico , Anciano de 80 o más Años , Biopsia , Diagnóstico Diferencial , Femenino , Humanos , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/complicaciones , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/tratamiento farmacológico , Riboflavina/uso terapéutico , Complejo Vitamínico B/uso terapéuticoRESUMEN
This study was to examine the effect of leaning-forward posture (LFP) on gait parameters while using a rolling walker (RW). A cross-sectional study was conducted in which 23 older female adults were asked to walk with a RW on the GaitRite walkway in two posture situations: upright posture, and LFP caused by pushing the RW forward and then following the RW. The temporal and spatial gait parameters were obtained for data analysis. Results showed that compared with the upright posture, participants with LFP demonstrated significantly increased cadence, decreased velocity and gait cycle time (both swing and stance time decreased). Of spatial parameters, both step and stride length significantly decreased, but the base of support increased significantly. These indicate that LFP during ambulation with a RW could lead participants to a shuffling-like (many steps on short distance) gait pattern. They may help clinicians find proper rehabilitation interventions and appropriate patient education for this specific postural presentation.
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Marcha , Andadores , Estudios Transversales , Femenino , Humanos , Postura , CaminataRESUMEN
OBJECTIVES: The primary aim of this study was to evaluate the health-related quality of life (HRQoL) of children with cochlear implants (CIs) from the parental perspective. The secondary objective was to explore possible relationships between demographic variables (such as age at assessment, gender, age at implantation, and duration of language rehabilitation) and the HRQoL. The third objective was to determine the developmental trajectories of HRQoL. DESIGN: This study included parents of 123 children with CIs (mean age, 40.45 months; mean age of CI implantation, 24.74 months; mean device experience, 16.34 months). The time periods for follow-up were at 0, 1, 2, 3, 6, and 12-month intervals of CI use. The Mandarin Children with Cochlear Implants: Parental Perspectives questionnaire was employed to assess HRQoL. RESULTS: Parents were satisfied with HRQoL, especially with the domain of social relations; however, education received a less positive rating. The duration of CI use was positively correlated with 5 domains, suggesting that children who used CIs for a longer time had higher HRQoL ratings. Children with longer language rehabilitation received more positive ratings in the domains of social relations and education (p < 0.05); children whose mothers had higher education levels received more positive ratings in the domain of general functioning (p < 0.05); children living in cities received more positive ratings in the domains of communication, general functioning and self-reliance (p < 0.05). Girls received more positive rating than boys in the domain of well-being (p < 0.05). No significant correlation was found between age at implantation, age at assessment, only child status, and HRQoL. All domains showed clear increases in the duration of CI use; the majority of the domains showed steeper progress over the first 3 months of CI use. Communication exhibited the most rapid progress, with education progressing at a slower rate. CONCLUSIONS: Parents were satisfied with all domains of HRQoL. Almost all domains exhibited rapid progress over the first 3 months of CI use, with education progressing at a slower rate. This research underscores the importance of language rehabilitation by revealing that strengthening language rehabilitation could be an effective means of improving the HRQoL of children with CIs.
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Implantación Coclear , Sordera/rehabilitación , Calidad de Vida , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Lenguaje , Masculino , Padres , Factores SexualesRESUMEN
Lead-halide perovskites have been attracting attention for potential use in solid-state lighting. Following the footsteps of solar cells, the field of perovskite light-emitting diodes (PeLEDs) has been growing rapidly. Their application prospects in lighting, however, remain still uncertain due to a variety of shortcomings in device performance including their limited levels of luminous efficiency achievable thus far. Here we show high-efficiency PeLEDs based on colloidal perovskite nanocrystals (PeNCs) synthesized at room temperature possessing dominant first-order excitonic radiation (enabling a photoluminescence quantum yield of 71% in solid film), unlike in the case of bulk perovskites with slow electron-hole bimolecular radiative recombination (a second-order process). In these PeLEDs, by reaching charge balance in the recombination zone, we find that the Auger nonradiative recombination, with its significant role in emission quenching, is effectively suppressed in low driving current density range. In consequence, these devices reach a maximum external quantum efficiency of 12.9% and a power efficiency of 30.3 lm W-1 at luminance levels above 1000 cd m-2 as required for various applications. These findings suggest that, with feasible levels of device performance, the PeNCs hold great promise for their use in LED lighting and displays.