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INTRODUCTION: Wernekinck commissure syndrome (WCS) is an extremely rare midbrain syndrome, which selectively destroys the decussation of the superior cerebellar peduncle and the central tegmental tract, which commonly presents with bilateral cerebellar ataxia, dysarthria, and internuclear ophthalmoplegia. Palatal myoclonus in Wernekinck commissure syndrome is uncommon and often occurs as a late phenomenon due to hypertrophic degeneration of bilateral inferior olivary nuclei. MATERIAL AND METHOD: A patient with WCS, admitted to our hospital from December 2023, was chosen for this study, and the syndrome's clinical manifestations, imaging features, and etiology were retrospectively analyzed based on the literature. A 68-year-old right-handed East Asian man presented with dizziness, slurred speech, difficulty with swallowing and walking, and rhythmic contractions of the soft palate. He had several risk factors for ischemic cerebrovascular diseases (age, sex, dyslipidemia, hypertension and smoking history). Brain magnetic resonance imaging showed hyperintensity of DWI and hypointensity of ADC at the caudal midbrain which was around the paramedian mesencephalic tegmentum anterior to the aqueduct of midbrain. RESULTS: He was diagnosed with Wernekinck commissure syndrome (WCS) secondary to caudal paramedian midbrain infarction. He was started on dual antiplatelet therapy (aspirin and clopidogrel) and intensive statin therapy. Blood pressure and glucose were also adjusted. His symptoms improved rapidly, and he walked steadily and speak clearly after 7 days of treatment. CONCLUSIONS: Palatal myoclonus is known to occur as a late phenomenon due to hypertrophic degeneration of bilateral inferior olivary nuclei. However, Our case suggests that palatal myoclonus can occur in the early stages in WCS.
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OBJECTIVE: NK cells play a vital role in tumor immune resistance. Various factors affect NK cell activity. While NK cell dysfunction has been observed in numerous malignancies, the underlying mechanisms in gastric cancer remain unclear. METHOD: Flow cytometry was used to identify the phenotypic distribution and expression of activated receptors on NK cells. ELISA was used to determine the expression of cytokines. We examined the expression of NK cell-related genes and explored their association with survival and prognosis. Additionally, we conducted PCR detection of miR-552-5p expression levels in plasma exosomes of patients and investigated its correlation with phenotypic distribution and activated receptors. We used flow cytometry and ELISA to verify the role of miR-552-5p in NK cell dysfunction. Furthermore, we investigated the potential role of PD-1/PD-L1 in regulating NK cell dysfunction in patients' cells. RESULTS: We observed a significant decrease in the percentage of NKG2D and NKp30 and IFN-γ and TNF-α in patients than in healthy volunteers. Patients with low levels of CD56, CD16, NKG2D, and NKP46 exhibited poorer survival prognoses. Moreover, increased expression levels of plasma exosomal miR-552-5p in patients were negatively associated with NK cell phenotypic distribution and activated receptor expression. MiR-552-5p downregulated the secretion of perforin, granzyme, and IFN-γ as well as the expression of NKp30, NKp46, and NKG2D. Additionally, it suppressed the cytotoxicity of NK cells. The inhibitory effect of miR-552-5p, on NK cell function was reversed when anti-PD-L1 antibodies were used. CONCLUSION: Exosomal miR-552-5p targets the PD-1/PD-L1 axis, leading to impaired NK cell function.
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BACKGROUND AND AIMS: Distinctive gut microbial profiles have been observed between patients with Wilson disease (WD) and healthy individuals. Despite this, the exact relationship and influence of gut microbiota on the advancement of WD-related liver damage remain ambiguous. This research seeks to clarify the gut microbiota characteristics in both human patients and mouse models of WD, as well as their impact on liver injury. METHODS: Gut microbial features in healthy individuals, patients with WD, healthy mice and mice with early- and late-stage WD were analysed using 16S rRNA gene sequencing. Additionally, WD-afflicted mice underwent treatment with either an antibiotic cocktail (with normal saline as a control) or healthy microbiota (using disease microbiota as a control). The study assessed gut microbiota composition, hepatic transcriptome profiles, liver copper concentrations and hepatic pathological injuries. RESULTS: Patients with hepatic WD and mice with WD-related liver injury displayed altered gut microbiota composition, notably with a significant reduction in Lactobacillus abundance. Additionally, the abundances of several gut genera, including Lactobacillus, Veillonella and Eubacterium coprostanoligenes, showed significant correlations with the severity of liver injury in patients with WD. In WD mice, antibiotic treatment or transplantation of healthy microbiota altered the gut microbial structure, increased Lactobacillus abundance and modified the hepatic transcriptional profile. These interventions resulted in reduced hepatic copper concentration and alleviation of WD-related liver injury. CONCLUSIONS: Individuals and mice with pronounced WD-related liver injury exhibited shifts in gut microbial composition. Regulating gut microbiota through healthy microbiota transplantation emerges as a promising therapeutic approach for treating WD-related liver injury.
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A fully homomorphic encryption system enables computation on encrypted data without the necessity for prior decryption. This facilitates the seamless establishment of a secure quantum channel, bridging the server and client components, and thereby providing the client with secure access to the server's substantial computational capacity for executing quantum operations. However, traditional homomorphic encryption systems lack scalability, programmability, and stability. In this Letter, we experimentally demonstrate a proof-of-concept implementation of a homomorphic encryption scheme on a compact quantum chip, verifying the feasibility of using photonic chips for quantum homomorphic encryption. Our work not only provides a solution for circuit expansion, addressing the longstanding challenge of scalability while significantly reducing the size of quantum network infrastructure, but also lays the groundwork for the development of highly sophisticated quantum fully homomorphic encryption systems.
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Optical fiber force sensing has attracted considerable interest in biological, materials science, micromanipulation, and medical applications owing to its compact and cost-efficient configuration. However, the glass fiber has an intrinsic high Young's modulus, resulting in force sensors being generally less sensitive. While hyperelastic polymer materials can be utilized to enhance the force sensitivity, the thermodynamic properties of the polymer may weaken the sensing accuracy and reliability. Herein, we demonstrate ultracompact three-dimensional (3D)-printed multicore fiber (MCF) tip probes for simultaneous measurement of nanoforce and temperature with high sensitivity. The sensor is highly sensitive to force-induced deformation due to the special geometric features of the polymer microcantilever, and the high-temperature sensitivity can be implemented through the poly(dimethylsiloxane) (PDMS) microcavity on the same fiber facet. Moreover, the sensitivities of the fiber interferometers are remarkably enhanced by introducing the optical analogue of the Vernier effect. Such a device exhibits a force sensitivity of 56.35 nm/µN, which is more than 103 times that of all-silica fiber force sensors. The PDMS microcavity provides a temperature sensitivity of 1.447 nm/°C, measuring the local temperature of the probe and compensating for temperature crosstalk of the force detection. The proposed compact MCF-tip sensor can simultaneously measure nanoforce and temperature with high sensitivity, facilitating multiparameter sensing in a restricted space environment and showing the potential in miniaturized all-fiber multiparameter sensors.
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OBJECTIVE: The relationship between serum total cholesterol (TC) and triglyceride (TG) levels and mortality in maintenance hemodialysis (MHD) patients remains inconsistent. We aimed to explore the individual and combined association of TC and TG levels with the risk of mortality in Chinese MHD patients. METHODS: 1036 MHD patients were enrolled in this multicenter, prospective cohort study. The serum levels of total cholesterol and triglycerides were measured at baseline. The primary outcome was all-cause mortality and secondary outcome was cardiovascular disease (CVD) mortality. RESULTS: During a median follow-up duration of 4.4 years (IQR= 2.0-7.9 years), 549 (53.0%) patients died, and 297 (28.7%) deaths were attributed to CVD. Compared with patients with TC levels in the first three quartiles (<182.5 mg/dL), a significantly higher risk of all-cause mortality was found in participants with TC in the fourth quartile (hazard ratio [HR], 1.43; 95% confidence interval [CI], 1.17-1.76). However, a significantly lower risk of all-cause mortality was observed in participants with TG in the fourth quartile (≥193.9 mg/dL) (HR, 0.78; 95%CI: 0.63-0.98), compared with participants with TG in the first three quartiles. Similar trends were observed in CVD mortality. When analyzed jointly, patients with lower TC (<182.5 mg/dL) and higher TG (≥193.9 mg/dL) levels had the lowest risk of all-cause mortality and CVD mortality.Conclusions: In MHD patients in southern China, higher TC levels were associated with higher risk of mortality, while higher TG levels were related to lower risk of mortality. Patients with lower TC and higher TG levels had the best survival prognosis.
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Enfermedades Cardiovasculares , Diálisis Renal , Humanos , Triglicéridos , Estudios Prospectivos , Colesterol , HDL-Colesterol , Factores de RiesgoRESUMEN
Background: Endobronchial ultrasound (EBUS) sonographic features help identify benign/malignant lymph nodes while conducting transbronchial needle aspiration (TBNA). This study aims to identify risk factors for malignancy based on EBUS sonographic features and to estimate the risk of malignancy in lymph nodes by constructing a nomogram. Methods: 1082 lymph nodes from 625 patients were randomly enrolled in training (n = 760) and validation (n = 322) sets. The subgroup of EBUS-TBNA postoperative negative lymph nodes (n = 317) was randomly enrolled in a training (n = 224) set and a validation (n = 93) set. Logistic regression analysis was used to identify the EBUS features of malignant lymph nodes. A nomogram was formulated using the EBUS features in the training set and later validated in the validation set. Results: Multivariate analysis revealed that long-axis, short-axis, echogenicity, fusion, and central hilar structure (CHS) were the independent predictors of malignant lymph nodes. Based on these risk factors, a nomogram was constructed. Both the training and validation sets of 5 EBUS features nomogram showed good discrimination, with area under the curve values of 0.880 (sensitivity = 0.829 and specificity = 0.807) and 0.905 (sensitivity = 0.819 and specificity = 0.857). Subgroup multivariate analysis revealed that long-axis, echogenicity, and CHS were the independent predictors of malignancy outcomes of EBUS-TBNA postoperative negative lymph nodes. Based on these risk factors, a nomogram was constructed. Both the training and validation sets of 3 EBUS features nomogram showed good discrimination, with the area under the curve values of 0.890 (sensitivity = 0.882 and specificity = 0.786) and 0.834 (sensitivity = 0.930 and specificity = 0.636). Conclusions: Our novel scoring system based on two nomograms can be utilized to predict malignant lymph nodes.
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Neoplasias Pulmonares , Nomogramas , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/patología , Mediastino/diagnóstico por imagen , Mediastino/patología , Ultrasonografía , Distribución AleatoriaRESUMEN
RNA processing mechanisms, such as alternative splicing and RNA editing, have been recognized as critical means to expand the transcriptome. Chimeric RNAs formed by intergenic splicing provide another potential layer of RNA diversification. By analyzing a large set of RNA-Seq data and validating results in over 1,200 blood samples, we identified UBA1-CDK16 , a female-specific chimeric transcript. Intriguingly, both parental genes, are expressed in males and females. Mechanistically, UBA1-CDK16 is produced by cis-splicing between the two adjacent X-linked genes, originating from the inactive X chromosome. A female-specific chromatin loop, formed between the junction sites, facilitates the alternative splicing of its readthrough precursor. This unique chimeric transcript exhibits evolutionary conservation, evolving to be female-specific from non-human primates to humans. Furthermore, our investigation reveals that UBA1-CDK16 is enriched in the myeloid lineage and plays a regulatory role in myeloid differentiation. Notably, female COVID-19 patients who tested negative for this chimeric transcript displayed higher counts of neutrophils, highlighting its potential role in disease pathogenesis. These findings support the notion that chimeric RNAs represent a new repertoire of transcripts that can be regulated independently from the parental genes, and a new class of RNA variance with potential implications in sexual dimorphism and immune responses.
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BACKGROUND: T cell engagers (TCEs) have been established as an emerging modality for hematologic malignancies, but solid tumors remain refractory. However, the upregulation of programmed cell death 1 (PD-1) is correlated with T cell dysfunction that confer tumor-mediated immunosuppression. Developing a novel nanobody-based trispecific T cell engager (Nb-TriTE) would be a potential strategy to improve therapeutic efficacy. METHODS: Given the therapeutic potential of nanobodies (Nbs), we first screened Nb targeting fibroblast activation protein (FAP) and successfully generated a Nb-based bispecific T cell engager (Nb-BiTE) targeting FAP. Then, we developed a Nb-TriTE by fusing an anti-PD-1 Nb to the Nb-BiTE. The biological activity and antitumor efficacy of the Nb-TriTE were evaluated in vitro and in both cell line-derived and patient-derived xenograft mouse models. RESULTS: We had for the first time successfully selected a FAP Nb for the generation of novel Nb-BiTE and Nb-TriTE, which showed good binding ability to their targets. Nb-TriTE not only induced robust tumor antigen-specific killing, potent T cell activation and enhanced T cell function in vitro, but also suppressed tumor growth, improved survival and mediated more T cell infiltration than Nb-BiTE in mouse models of different solid tumors without toxicity. CONCLUSIONS: This novel Nb-TriTE provides a promising and universal platform to overcome tumor-mediated immunosuppression and improve patient outcomes in the future.
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Anticuerpos Biespecíficos , Neoplasias , Humanos , Ratones , Animales , Niobio/metabolismo , Neoplasias/terapia , Terapia de Inmunosupresión , Linfocitos T , Tolerancia Inmunológica , Anticuerpos Biespecíficos/farmacología , Anticuerpos Biespecíficos/uso terapéutico , Anticuerpos Biespecíficos/metabolismoRESUMEN
Background: Chimeric antigen receptor (CAR) T-cell therapy is practical in treating cancers of hematopoietic origin, but of that in solid tumors compromises efficacy for the loss of the antigen recognized by the CAR. However, dendritic cell (DC)/tumor fusion vaccines present a spectrum of known or unknown tumor antigens to stimulate T cell expansion and enhanced T cell response. Developing a new strategy of enhanced nanobody-based CAR-T (Nb-CAR-T) cells antitumor activity by DC/tumor fusion vaccines stimulation would provide guidance for more effective CAR-T cell therapies. Methods: Considering the therapeutic potential of nanobody (Nb), we first screened EGFRvIII Nb, then constructed and verified the function of EGFRvIII Nb-CAR-T cells in vitro and in vivo. We further combined DC/tumor fusion vaccines to boost EGFRvIII Nb-CAR-T cells antitumor effect, which was evaluated in vitro Nb-CAR-T cell function and in the tumor-bearing xenograft mouse models. Results: We had for the first time successfully selected EGFRvIII Nb for the generation of the novel EGFRvIII Nb-CAR-T cells. Importantly, our results suggested that DC/tumor fusion vaccines stimulate Nb-CAR-T cells response not only in improving T cell proliferation, T cell activation, cytokine secretion and tumor-specific cytotoxicity in vitro, but also significantly reducing tumor burden, prolonging survival and improving Nb-CAR-T cells infiltration. Conclusions: We have innovatively shown that DC/tumor fusion vaccines significantly enhance the efficacy of Nb-CAR-T cells against solid tumors. This new strategy has provided a promising therapeutic platform for promoting the clinical treatment of CAR-T cells therapy.
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Receptores Quiméricos de Antígenos , Humanos , Animales , Ratones , Línea Celular Tumoral , Linfocitos T , Inmunoterapia Adoptiva/métodos , Proliferación Celular , Ensayos Antitumor por Modelo de XenoinjertoRESUMEN
The nanobore fiber (NBF) is a promising nanoscale optofluidic platform due to its long nanochannel and unique optical properties. However, so far, the applications of NBF have been based only on its original fiber geometry without any extra functionalities, in contrast with various telecom fiber devices, which may limit its wide applications. Here, we provide the first, to the best of our knowledge, demonstration of NBF-based fiber Bragg gratings (FBGs) introduced by either the femtosecond (fs) laser direct writing technique or the ultraviolet (UV) laser phase mask technique. Moreover, the FBG fabricated via the UV laser was optimized, achieving a high reflectivity of 96.89% and simultaneously preserving the open nanochannel. The NBF-based FBGs were characterized in terms of temperature variation and the infiltration of different liquids, and they showed high potential for nanofluidic applications.
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In the central nervous system diseases, glioma is one of the most common malignancies around the world. Despite the recent improvements in therapies for glioma, the prognosis of some high-risk glioma remains poor. In glioma, isoliquiritigenin (ISL) is reported to have antioxidative and antitumor activities. However, the potential mechanisms between ISL and circle RNAs (circRNAs) in the glioma tumorigenesis process have not yet been reported. Here, we treated glioma cells with ISL, and circRNA expression levels were detected. Circ0030018 was found significantly downregulated by ISL. Therefore, we explored circ0030018 expression profiles and functions in glioma, finding that circ0030018 was evidently overexpressed in glioma cell lines. Colony formation, CCK-8, and transwell assay made clear that circ0030018 silencing dramatically cut down glioma growth and invasion. Moreover, ROS level was detected to find that circ0030018 silence remarkably enhanced cell oxidative stress in glioma. Mechanism studies were conducted to investigate the underlying basis of circ0030018 function in glioma, unveiling that circ0030018 realized its functions partially through the miR-1236/HER2 signaling in glioma. In conclusion, our study investigated the roles and mechanisms of the ISL on the circ0030018/miR-1236/HER2 pathway in glioma tumorigenesis and progression. Circ0030018 could act as the prospective biologic signature or therapeutic target for glioma.
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BACKGROUND: Morphological changes of retina in patients with Wilson's disease (WD) can be found by optical coherence tomography (OCT), and such changes had significant differences between neurological forms (NWD) and hepatic forms (HWD) of WD. The aim of this study was to evaluate the relationship between morphological parameters of retina and brain magnetic resonance imaging (MRI) lesions, course of disease, type of disease, and sexuality in WD. METHODS: A total of 46 WD patients and 40 health controls (HC) were recruited in this study. A total of 42 WD patients were divided into different groups according to clinical manifestations, course of disease, sexuality, and brain MRI lesions. We employed the Global Assessment Scale to assess neurological severity of WD patients. All WD patients and HC underwent retinal OCT to assess the thickness of inner limiting membrane (ILM) layer to retinal pigment epithelium layer and inner retina layer (ILM to inner plexiform layer, ILM-IPL). RESULTS: Compared to HWD, NWD had thinner superior parafovea zone (108.07 ± 6.89 vs. 114.40 ± 5.54 µm, p < .01), temporal parafovea zone (97.17 ± 6.65 vs. 103.60 ± 4.53 µm, p < .01), inferior parafovea zone (108.114 ± 7.65 vs. 114.93 ± 5.84 µm, p < .01), and nasal parafovea zone (105.53 ± 8.01 vs. 112.10 ± 5.44 µm, p < .01) in inner retina layer. Course of disease influenced the retina thickness. Male patients had thinner inner retina layer compared to female patients. CONCLUSION: Our results demonstrated that WD had thinner inner retina layer compared to HC, and NWD had thinner inner retina layer compared to HWD. We speculated the thickness of inner retina layer may be a potential useful biomarker for NWD.
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Degeneración Hepatolenticular , Humanos , Masculino , Femenino , Degeneración Hepatolenticular/diagnóstico por imagen , Degeneración Hepatolenticular/patología , Tomografía de Coherencia Óptica/métodos , Retina/diagnóstico por imagen , Retina/patologíaRESUMEN
OBJECTIVE: To analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis. METHODS: This retrospective study was conducted at the First Affiliated Hospital of the Guangdong Pharmaceutical University on 68 patients with purely hepatic WD aged 20.6 ± 7.2 years. The physical examinations, laboratory tests, color Doppler ultrasound of the liver and spleen, and magnetic resonance imaging (MRI) of the brain were performed. RESULTS: The elevated alanine transaminase (ALT) and aspartate transaminase (AST) levels and 24-h urinary copper level were higher in the purely hepatic WD who developed neurological symptoms (NH-WD) group than those in the purely hepatic WD (H-WD) group. Adherence to low-copper diet, and daily oral doses of penicillamine (PCA) and zinc gluconate (ZG) were lower in the NH-WD group than those in the H-WD group. Logistic regression analysis showed that insufficient doses of PCA and ZG were associated with the development of neurological symptoms in patients with purely hepatic WD at diagnosis. CONCLUSION: The development of neurological symptoms in patients with purely hepatic WD was closely associated with insufficient doses of PCA and ZG, and the inferior efficacy of copper-chelating agents. During the course of anti-copper treatment, the patient's medical status and the efficacy of copper excretion should be closely monitored.
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Degeneración Hepatolenticular , Humanos , Encéfalo , Cobre , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/tratamiento farmacológico , Penicilamina/uso terapéutico , Estudios Retrospectivos , Factores de Riesgo , Zinc/uso terapéuticoRESUMEN
In Raman analysis, the substrate material serves very often for signal enhancement, especially when metallic surfaces are involved; however, in other cases, the substrate has an opposite effect as it is the source of a parasitic signal preventing the observation of the sample material of interest. This is particularly true with the advent of microfluidic devices involving either silicon or polymer surfaces. On the other hand, in a vast majority of Raman experiments, the analysis is made on a horizontal support holding the sample of interest. In our paper, we report that a simple tilting of the supporting substrate, in this case, silicon, can drastically decrease and eventually inhibit the Raman signal of the substrate material, leading to an easier observation of the target analyte of the sample, in this case, microplastic particles. This effect is very pronounced especially when looking for tiny particles. Explanation of this trend is provided thanks to a supporting experiment and further numerical simulations that suggest that the lensing effect of the particles plays an important role. These findings may be useful for Raman analysis of other microscale particles having curved shapes, including biological cells.
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Rheumatoid arthritis (RA) is a common autoimmune disorder initiated by inflammatory synovitis. Hyperproliferation of destructive synovial fibroblasts (SFs) is one of the pathogenic mechanisms of RA. Abnormalities in regulatory T cells (Tregs) may also play a critical role in this progression. To date, it is unclear whether both natural Tregs (nTregs) and induced Tregs (iTregs) share similar characteristics in RA progression and whether Tregs directly suppress the autoaggressive activities of SFs. In this study, we compared suppressive effects on effector T cells (Teffs) and inflamed SFs between nTregs and iTregs in a collagen-induced arthritis (CIA) model. Our results demonstrated that iTregs but not nTregs maintained a suppressive effect on Teffs after adoptive transfer into CIA mice. Additionally, we discovered that iTregs directly inhibited the destructive activities of CIA-SFs. Thus, this study suggests that administration of the iTreg subset has great potential for treatment of RA in the clinic in the future.
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Artritis Experimental , Artritis Reumatoide , Animales , Ratones , Linfocitos T Reguladores , Traslado Adoptivo , FibroblastosRESUMEN
Background: Data are limited on the relationship between waist-to-hip ratio (WHR) and mortality risk among maintenance hemodialysis (MHD) patients. Moreover, the combined association of body mass index (BMI) and WHR with mortality remains uncertain. Therefore, we aimed to explore the individual and combined association of BMI and WHR with the all-cause and cardiovascular disease (CVD) mortality. Methods: In this multicenter prospective cohort study, we enrolled 1034 MHD patients. The primary outcome was all-cause mortality and secondary outcome was CVD mortality. Multivariable Cox proportional hazards models were used to evaluate the individual and combined association of BMI and WHR with the risk of mortality. Results: A nonlinear inverse relationship was found between BMI and risk of all-cause mortality (P for nonlinearity <.05). Being underweight (<18.5 kg/m2) was associated with higher all-cause mortality risk (HR 1.45; 95% CI 1.08-1.94) compared with normal weight (18.5-23.9 kg/m2), while being overweight (24-27.9 kg/m2; HR 0.96; 95% CI 0.70-1.31) and obese (≥28 kg/m2; HR 1.19; 95% CI 0.62-2.26) showed no significant differences. Of note, WHR was independently and positively associated with all-cause mortality (per standard deviation increase, HR 1.13; 95% CI 1.00-1.27). When analyzed jointly, patients with low BMI (<18.5 kg/m2) and high WHR (≥0.95) had the highest risk of all-cause mortality. Similar results were obtained for CVD mortality. Conclusions: In patients undergoing hemodialysis from China, low BMI and high WHR were individually and jointly associated with higher risk of mortality. Our results emphasize that BMI and WHR may jointly affect the prognosis of MHD patients.
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To measure the linear structure of the brain in patients with Wilson's disease (WD) and analyze its correlation with neurological symptoms. A total of 174 patients diagnosed with WD were enrolled. According to the type of clinical presentation, the patients with WD were divided into two groups: neurological (NWD) and hepatic (HWD). Sixty healthy volunteers were assigned to a control group. All patients with WD and healthy controls underwent brain magnetic resonance imaging (MRI). The severity of the neurological symptoms was assessed using the Burke Fahn Marsden Movement subscale (BFM-M). Linear brain measurements were performed using T1-weighted MRI scans of all the patients, and the correlation between these linear indices and BFM-M score was investigated. The Huckman index, third ventricle width, and sulcus width of the NWD group were significantly higher than those of the HWD and control groups (Pâ <â .05). The frontal horn index, ventricular index, and lateral ventricular body width index of the NWD group were significantly lower than those of the HWD and control groups (Pâ <â .05). The Huckman index and third ventricle width of the HWD group were higher than those of the control group (Pâ <â .05), whereas the body width index of the lateral ventricle was lower than that of the control group (Pâ <â .05). The BFM-M score correlated with the Huckman index (râ =â 0.29, Pâ <â .05), third ventricle width (râ =â 0.426, Pâ <â .001), and lateral ventricular body width index (râ =â -0.19, Pâ <â .05). This study demonstrated significant changes in the linear structure of patients with WD. Linear brain measurement analysis could be used as a potential method to assess the severity of neurological symptoms in WD.
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Degeneración Hepatolenticular , Humanos , Degeneración Hepatolenticular/diagnóstico , Encéfalo/patología , Imagen por Resonancia MagnéticaRESUMEN
Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most common maternally inherited mitochondrial diseases which rarely affects elderly people. Case presentation: We reported the case of a 61-year-old male patient with MELAS. He was experiencing acute migraine-like headaches as the first symptoms. Laboratory data showed elevated lactate and creatine kinase levels. Brain magnetic resonance imaging (MRI) found a high signal intensity lesion in the left occipital-temporal-parietal lobe on diffusion-weighted imaging (DWI). Magnetic resonance angiography (MRA) revealed reversible vasoconstriction of the middle cerebral arteries and superficial temporal arteries. A muscle biopsy suggested minor muscle damage. A genetic study revealed a mitochondrial DNA A3243G mutation. Conclusion: Elderly onset of MELAS is rare and easily misdiagnosed as an ischemic stroke. MELAS with the onset of stroke-like episodes should be considered in adult or elderly patients with imaging findings that are atypical for cerebral infarction. The use of multimodal MRI in the clinical diagnosis of MELAS could be extremely beneficial.
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OBJECTIVE: To study the clinical features and power spectral entropy (PSE) of electroencephalography signals in Wilson's disease (WD) patients with dystonia. METHODS: Several scale evaluations were performed to assess the clinical features of WD patients. Demographic information and electroencephalography signals were obtained in all subjects. RESULTS: 34 WD patients with dystonia were recruited in the case group and 24 patients without dystonia were recruited in the control group. 20 healthy individuals were included in the healthy control group. The mean body mass index (BMI) in the case group was significantly lower than that in the controls (p < .05). The case group had significantly higher SAS, SDS, and Bucco-Facial-Apraxia Assessment scores (p < .05). Total BADS scores in the case group were lower than those in the control group (p < .01). Note that 94.11% of the case group presented with dysarthria and 70.59% of them suffered from dysphagia. Dysphagia was mainly related to the oral preparatory stage and oral stage. Mean power spectral entropy (PSE) values in the case group were significantly different (p < .05) from those in the control group and the healthy group across the different tasks. CONCLUSIONS: The patients with dystonia were usually accompanied with low BMI, anxiety, depression, apraxia, executive dysfunction, dysarthria and dysphagia. The cortical activities of the WD patients with dystonia seemed to be more chaotic during the eyes-closed and reading tasks but lower during the swallowing stages than those in the control group.