COVID-19 in patients with myasthenia gravis: a single-center retrospective study in China.

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.

Mechano-sensor Piezo1 inhibits glucagon production in pancreatic α-cells.

OBJECTIVE: Glucagon is a critical hormone regulating glucose metabolism. It stimulates the liver to release glucose under low blood sugar conditions, thereby maintaining blood glucose stability. Excessive glucagon secretion and hyperglycemia is observed in individuals with diabetes. Precise modulation of glucagon is significant to maintain glucose homeostasis. Piezo1 is a mechanosensitive ion channel capable of converting extracellular mechanical forces into intracellular signals, thus regulating hormonal synthesis and secretion. This study aims to investigate the role of Piezo1 in regulating glucagon production in α cells. METHODS: The effects of Piezo1 on glucagon production were examined in normal- or high-fat diet fed α cell-specific Piezo1 knockout mice (Gcg-Piezo1-/-), and the murine pancreatic α cell line αTC1-6. Expression of Proglucagon was investigated by real-time PCR and western blotting. Plasma glucagon and insulin were detected by enzyme immunoassay. RESULTS: Under both normal- and high-fat diet conditions, Gcg-Piezo1-/- mice exhibited increased pancreatic α cell proportion, hyperglucagonemia, impaired glucose tolerance, and activated pancreatic mTORC1 signaling. Activation of Piezo1 by its agonist Yoda1 or overexpression of Piezo1 led to decreased glucagon synthesis and suppressed mTOR signaling pathway in αTC1-6 cells. Additionally, the levels of glucagon in the medium were also reduced. Conversely, knockdown of Piezo1 produced opposite effects. CONCLUSION: Our study uncovers the regulatory role of the Piezo1 ion channel in α cells. Piezo1 influences glucagon production by affecting mTOR signaling pathway.

Improvement of plant resistance to geminiviruses via protein de-S-acylation.

Geminiviruses are an important group of viruses that infect a variety of plants and result in heavy agricultural losses worldwide. The homologs of C4 (or L4) in monopartite geminiviruses and AC4 (or AL4) in bipartite geminiviruses are critical viral proteins. The C4 proteins from several geminiviruses are the substrates of S-acylation, a dynamic post-translational modification, for the maintenance of their membrane localization and function in virus infection. Here we initiated a screening and identified a plant protein ABAPT3 (Alpha/Beta Hydrolase Domain-containing Protein 17-like Acyl Protein Thioesterase 3) as the de-S-acylation enzyme of C4 encoded by BSCTV (Beet severe curly top virus). Overexpression of ABAPT3 reduced the S-acylation of BSCTV C4, disrupted its plasma membrane localization, inhibited its function in pathogenesis, and suppressed BSCTV infection. Because the S-acylation motifs are conserved among C4 from different geminiviruses, we tested the effect of ABAPT3 on the C4 protein of ToLCGdV (Tomato leaf curl Guangdong virus) from another geminivirus genus. Consistently, ABAPT3 overexpression also disrupted the S-acylation, subcellular localization, and function of ToLCGdV C4, and inhibited ToLCGdV infection. In summary, we provided a new approach to globally improve the resistance to different types of geminiviruses in plants via de-S-acylation of the viral C4 proteins and it can be extendedly used for suppression of geminivirus infection in crops.

Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients.

BACKGROUND: Kidney damage is common in patients with Fabry disease (FD), but more accurate information about the risk of progression to kidney failure is needed for clinical decision-making. In particular, FD patients with mild renal involvement often lack timely intervention and treatment. We aimed to utilize a model to predict the risk of renal progression in FD patients. METHODS: Between November 2011 and November 2019, ERT-naive patients with FD were recruited from three medical centers in China. To assess the risk of a 50% decline in the estimated glomerular filtration rate (eGFR) or end-stage kidney disease (ESKD), Cox proportional hazards models were utilized. The performance of these models was assessed using discrimination, calibration, and reclassification. RESULTS: A total of 117 individuals were enrolled. The mean follow-up time was 4.8 years, during which 35 patients (29.9 %) progressed to the composite renal outcomes. Male sex, baseline proteinuria, eGFR and globotriaosylsphingosine (Lyso-Gb3) were found to be independent risk factors for kidney progression by the Cox model, based on which a combined model containing those clinical variables and Lyso-Gb3 and clinical models including only clinical indicators were constructed. The two prediction models had relatively good performance, with similar model fit measured by R2 (59.8 % vs. 61.1 %) and AIC (51.54 vs. 50.08) and a slight increase in the C statistic (0.949 vs. 0.951). Calibration curves indicated closer alignment between predicted and actual renal outcomes in the combined model. Furthermore, subgroup analysis revealed that Lyso-Gb3 significantly improved the predictive performance of the combined model for kidney prognosis in low-risk patients with a baseline eGFR over 60 ml/min/1.73 m2 or proteinuria levels less than 1 g/d when compared to the clinical model. CONCLUSIONS: Lyso-Gb3 improves the prediction of kidney outcomes in FD patients with a low risk of progression, suggesting that these patients may benefit from early intervention to assist in clinical management. These findings need to be externally validated.

Gastric mechanosensitive channel Piezo1 regulates ghrelin production and food intake.

Ghrelin, produced mainly by gastric X/A-like cells, triggers a hunger signal to the central nervous system to stimulate appetite. It remains unclear whether X/A-like cells sense gastric distention and thus regulate ghrelin production. Here we show that PIEZO1 expression in X/A-like cells decreases in patients with obesity when compared to controls, whereas it increases after sleeve gastrectomy. Male and female mice with specific loss of Piezo1 in X/A-like cells exhibit hyperghrelinaemia and hyperphagia and are more susceptible to overweight. These phenotypes are associated with impairment of the gastric CaMKKII/CaMKIV-mTOR signalling pathway. Activation of PIEZO1 by Yoda1 or gastric bead implantation inhibits ghrelin production, decreases energy intake and induces weight loss in mice. Inhibition of ghrelin production by Piezo1 through the CaMKKII/CaMKIV-mTOR pathway can be recapitulated in a ghrelin-producing cell line mHypoE-42. Our study reveals a mechanical regulation of ghrelin production and appetite by PIEZO1 of X/A-like cells, which suggests a promising target for anti-obesity therapy.

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

BACKGROUND: Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated. We aimed to investigate whether DMD missense variants would cause aberrant splicing and re-interpret their pathogenicity based on mRNA and protein studies. METHODS: Nine unrelated patients who had an elevated serum creatine kinase level with or without muscle weakness were enrolled. They underwent a detailed clinical, imaging, and pathological assessment. Routine genetic testing and muscle-derived mRNA and protein studies of dystrophin and sarcoglycan genes were performed in them. RESULTS: Three of the 9 patients presented with a Duchenne muscular dystrophy (DMD) phenotype and the remaining 6 patients had a suspected diagnosis of Becker muscular dystrophy (BMD) or sarcoglycanopathy based on their clinical and pathological characteristics. Routine genetic testing detected only 9 predicted DMD missense variants in them, of which 6 were novel and interpreted as uncertain significance. Muscle-derived mRNA studies of sarcoglycan genes didn't reveal any aberrant transcripts in them. Dystrophin mRNA studies confirmed that 3 predicted DMD missense variants (c.2380G > C, c.4977C > G, and c.5444A > G) were in fact splicing and frameshift variants due to aberrant splicing. The 9 DMD variants were re-interpreted as pathogenic or likely pathogenic based on mRNA and protein studies. Therefore, 3 patients with DMD splicing variants and 6 patients with confirmed DMD missense variants were diagnosed with DMD and BMD, respectively. CONCLUSION: Our study highlights the importance of muscle biopsy and aberrant splicing for clinical and genetic interpretation of uncertain DMD missense variants.

A Redactable Blockchain-Based Data Management Scheme for Agricultural Product Traceability.

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.

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report.

Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most likely due to structural chromosome rearrangements and/or deep intronic pseudoexon-activating variants. Here, we report on a boy with a suspected diagnosis of Becker muscular dystrophy (BMD) who remained without a detectable DMD variant after exonic DNA-based standard genetic testing. Dystrophin mRNA studies and genomic Sanger sequencing were performed in the boy, followed by in silico splicing analyses. We successfully detected a novel deep intronic disease-causing variant in the DMD gene (c.2380 + 3317A > T), which consequently resulting in a new dystrophin pseudoexon activation through the enhancement of a cryptic donor splice site. The patient was therefore genetically diagnosed with BMD. Our case report further emphasizes the significant role of disease-causing splicing variants within deep intronic regions in genetically undiagnosed dystrophinopathies.

Unraveling the chemosensory characteristics dependence of sauce-flavor baijiu on regionality using descriptive sensory analysis and quantitative targeted flavoromics.

Descriptive sensory analysis, headspace solid-phase microextraction-gas chromatography-mass spectrometry, gas chromatography-flame ionization detector and multivariate statistical analysis were used to elucidate the regional dependence of sauce-flavor baijiu (SFB). Although SFB samples from different regions couldn't be clearly classified by sensory profiles, they could be clearly divided into 5 groups in principal component analysis plot based on quantitative targeted flavoromics analysis. And then, the relationship between sensory attributes and volatile compounds were investigated by network analysis. Twenty regional aroma markers were identified by multivariate statistical analysis to distinguish SFB samples from different regions. Furthermore, the influence of manufacturing operation on SFB in Guizhou region was further analyzed. Thirty-eight potential compounds were significant different in Guizhou SFB samples with different manufacturing operations. This study not only provides a better understanding of regional dependence on SFB flavor, but also further clarifies the inheritance importance of manufacturing operation in traditional SFB production.

High Plant Protein Diet Ameliorated Hepatic Lipid Accumulation Through the Modulation of Gut Microbiota.

SCOPE: Substituting plant protein for animal protein has emerged as a promising strategy for managing atherogenic lipids. However, the impact of long-term intake of a high plant protein diet (HPD) on hepatic lipid disorder remains unclear. METHODS AND RESULTS: Eight-week-old apolipoprotein E deficient (apoE-/- ) mice are fed with either a normal protein diet (NCD) or HPD for 12 weeks. HPD intervention results in decreased body weight accompanied by increased energy expenditure, with no significant effect on glycemic control. Long-term intake of HPD improves the serum and hepatic lipid and cholesterol accumulation by suppressing hepatic squalene epoxidase (SQLE) expression, a key enzyme in cholesterol biosynthesis. Integrated analysis of 16S rDNA sequencing and metabolomics profiling reveals that HPD intervention increases the abundance of the Lachnospiraece family and serum levels of 12,13-DiHOME. Furthermore, in vivo studies demonstrate that 12,13-DiHOME significantly inhibits lipid accumulation, as well as SQLE expression induced by oleic acid in HepG2 cells. CONCLUSION: Diet rich in plant protein diet alleviates hyperlipidemia via increased microbial production of 12,13-DiHOME.

What should we expect when two myositis-specific antibodies coexist in a patient.

BACKGROUND: The coexistence of two myositis-specific autoantibodies (MSA) is considered extremely rare. We describe three patients with both anti-signal recognition particle (SRP) antibodies and another MSA in serum. METHODS: We performed a retrospective clinical data collection and follow-up studies of the clinical manifestations and treatment outcome of three patients positive with anti-SRP antibodies and other MSAs. IgG antibodies against MSAs were detected using commercial line immunoblot assay. RESULTS: The tests of MSA showed positive result of anti-SRP antibodies and another one MSA including anti-TIF1-γ, anti-Jo1, or anti-EJ antibodies, respectively. The proximal muscle weakness appeared in 2 patients; interstitial lung disease presented in 2 patients. The serum CK level was elevated in 1 patient. The muscle biopsy showed necrotizing myopathy in 1 patient and deposition of membrane attack complex on scattered myofibers in the other one patient. One of the two patients with interstitial lung disease died because of respiratory failure. One patient had completely improved and the other one showed partial remission after immunosuppressive therapy. CONCLUSIONS: The patients with anti-SRP antibodies co-occurred with the other MSA may have various clinical characteristics. The clinicopathological phenotypes of these patients seem to be mainly caused by one of the MSAs, namely the responsible antibody.

Clinicopathological and circulating cell-free DNA profile in myositis associated with anti-mitochondrial antibody.

OBJECTIVE: Anti-mitochondrial antibodies (AMAs) are associated with idiopathic inflammatory myopathies (IIMs). We aimed to summarize the clinicopathological characteristics, assess circulating cell-free mitochondrial DNA (ccf-mtDNA), and circulating cell-free nuclear DNA (ccf-nDNA) in AMA-associated IIMs. METHODS: Medical records of 37 IIMs patients with AMAs were reviewed. Circulating cell-free mtDNA and ccf-nDNA levels in sera from IIMs patients with AMAs (n = 21), disease controls (n = 66) and healthy controls (HCs) (n = 23) were measured and compared. Twenty-eight immune-mediated necrotizing myopathy (IMNM) patients, 23 dermatomyositis (DM) patients, and 15 anti-synthetase syndrome (ASS) patients were enrolled as disease controls. Correlations between variables were analyzed. RESULTS: Limb weakness was observed in 75.7% and neck weakness in 56.8% of patients. Cardiac involvement occurred in 51.4% of patients. Muscle pathology revealed 81.1% of IMNM, 5.4% polymyositis, and 13.5% nonspecific myositis. Microinfarction was observed in 8.1% of patients. Serum ccf-mtDNA levels in AMA-associated IIMs were significantly higher than those in HCs (p < 0.001), but no significant differences between AMA-associated IIMs and IMNM, DM, or ASS. Serum ccf-nDNA levels in AMA-associated IIMs were significantly higher than those in HCs (p = 0.02), and significantly lower than those in DM (p = 0.02). Serum ccf-nDNA levels correlated negatively with MMT8 total scores (rs = -0.458, p = 0.037) and positively with mRS scores (rs = 0.486, p = 0.025). Serum ccf-nDNA levels were significantly higher in the non-remission group (p < 0.01). INTERPRETATION: AMA-associated IIMs exhibit distinct clinicopathological features. Serum ccf-nDNA may serve as a potential marker for disease severity and prognosis in AMA-associated IIMs.

Test study on mechanical properties of compound municipal solid waste incinerator bottom ash premixed fluidized solidified soil.

In this paper, the municipal solid waste incineration bottom ash (MSW-IBA) is used as the fine aggregate and firming agent component of the premixed fluid stabilized soil (PFSS). Through the mechanical strength test, and the hydration products and microstructure characterization, the effects of the NaOH content for MSW-IBA pre-aging treatment and activator content on the mechanical properties of the PFSS are studied. The results show that the mechanical strength of the prepared PFSS is closely related to the amount of NaOH and the activator. The increase in the amount of NaOH and activator can affect the formation of early hydration product Aft, and reduce the early strength. However, it can promote the depolymerization of glass phase in MSW-IBA and slag to form C-(A)-S-H and Mg-(A)-S-H gel, increase the microstructure density, and thus improve the late strength. The application of MSW-IBA in PFSS can achieve the recycling of solid waste.

Effects of CO2 Curing on the Properties of Pervious Concrete in Different Paste-Aggregate Ratios.

To improve the comprehensive performance of pervious concrete, the properties of pervious concrete in different paste-aggregate ratios were subjected to both early CO2 curing and uncarbonated curing conditions. The mechanical properties, water permeability, porosity, and chemical composition of pervious concrete under two curing conditions were investigated and compared. The effects of CO2 curing on the properties of pervious concrete with different paste-aggregate ratios were derived. Through mechanical experiments, it was revealed that early CO2 curing can enhance the mechanical strength of pervious concrete by about 15-18%. Meanwhile, with the increase in the paste-aggregate ratio, the improvement effect induced by early CO2 curing became more significant. The water resistance of carbonated concrete was not significantly reduced. And with the increase in the paste-aggregate ratio, the carbonation degree of pervious concrete was reduced; the differences in porosity and water resistance became less significant when the paste-aggregate ratio exceeded 0.39. Micro-structural analysis shows that the early CO2 curing reduced both total porosity and the volume of micropores with a pore diameter of less than 40 nm, while it increased the volume of pores with a diameter of more than 40 nm. This is also the main reason that the strength of pervious concrete under early CO2 curing is higher than that without CO2 curing. The effect of varying paste-aggregate ratio and curing methods adds to the limited knowledge of the performance of pervious concrete.

Cardiometabolic benefits of Lacticaseibacillus paracasei 8700:2: A randomized double-blind placebo-controlled trial.

BACKGROUND & AIMS: Modulating microbial metabolism via probiotic supplementation has been proposed as an attractive strategy for the prevention of cardiometabolic diseases. Recently, Lacticaseibacillus paracasei (L. paracasei) was reported to alleviate metabolic disorders in murine models, however, its beneficial effects in humans remain to be determined. This study evaluated whether L. paracasei supplementation could improve endothelial function and cardiometabolic health in subjects with metabolic syndrome (MetS). METHODS: In this randomized, double-blind and placebo-controlled trial among 130 participants with MetS, subjects were randomly assigned to placebo or L. paracasei 8700: 2 (10 billion CFU) daily for 12 weeks. Endothelial function was measured by flow-mediated slowing, and cardiometabolic health was determined by both components and severity of MetS. Ideal compliance was defined as consumption no less than 70% of the capsules. RESULTS: 130 individuals (mean [SD] age, 45.97 [7.11] years; 95 men [73.1%]) were enrolled and randomized to L. paracasei (n = 66) or placebo control (n = 64). Compared to placebo, L. paracasei supplementation led to a greater reduction in remnant cholesterol (-0.16 mmol/L, 95%CI: -0.29 mmol/L to -0.02 mmol/L; P = 0.024). Such a reduction in remnant cholesterol was significantly associated with improvement in endothelial function (r = -0.23, P = 0.027). In subjects with an ideal compliance with trial protocol, L. paracasei treatment additionally lowered triglycerides, alleviated MetS severity and delayed weight gain. On the contrary, no obvious effect on insulin sensitivity or pancreatic beta-cell function was observed after L. paracasei intervention. Moreover, regarding safety and tolerability, no significant between-group difference in protocol-specified adverse events of interest was observed. CONCLUSIONS: L. paracasei supplementation enhanced endothelial function potentially through downregulating remnant cholesterol levels. Our study provides a feasible and safe strategy for the prevention of cardiometabolic diseases in subjects with severe dyslipidemia and endothelial dysfunction. REGISTERED: Under ClinicalTrails.gov identifier NCT05005754.

Comparison between ESD and RFA in patients with total or near-total circumferential early esophageal squamous cell neoplasia.

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.

Investigation of ocular involvement in patients with Fabry disease.

PURPOSE: To investigate ocular abnormalities in Fabry disease (FD). METHODS: Forty-five patients with FD diagnosed by genetic analysis were enrolled in a single medical centre. The following ocular examinations were performed: slit-lamp examination, ophthalmic fundus imaging, in vivo confocal microscopy (IVCM) and optical coherence tomography (OCT). The prevalences of typical abnormalities in the cornea, conjunctiva and retina were recorded; their differences between hemizygote and heterozygote were compared. RESULTS: In this study, the prevalence of corneal verticillata was 97.8% (44/45). Corneal examination with IVCM demonstrated hyper-reflective intracellular inclusions located within basal epithelial cells. Conjunctival vessel malformations were observed in 64.4% (29/45) of patients, and retinal vessel tortuosity was observed in 62.2% (28/45) of patients. OCT revealed many strong hyper-reflective foci (HRF) in the inner retinal layer (in 66.7% [30/45] of patients); these foci may represent retinal vascular plexi. The prevalences of conjunctival vessel malformation, retinal vessel tortuosity and HRF were higher in hemizygote than in heterozygote. CONCLUSIONS: Corneal verticillata, HRF on OCT, conjunctival vessel malformation and retinal vessel tortuosity exhibit high prevalence in patients with FD. These ocular manifestations are characteristic and easily accessible; thus, they should be considered diagnostic criteria for FD.

The main ocular features of the patients with FD are corneal verticillata, HRF on OCT, conjunctival vessel malformation and retinal vessel tortuosity.These ocular manifestations should be considered as the diagnostic criteria of FD.

Brain MRI correlations with disease burden and biomarkers in Fabry disease.

OBJECTIVE: To quantitatively evaluate cerebral small vessel disease (CSVD) in brain magnetic resonance imaging (MRI) and its correlation with disease burden and markers in Fabry disease, a rare X-linked lysosomal storage disease. METHODS: We collected brain MRI data from seventy-one Chinese patients with Fabry disease. CSVD was evaluated using an age-related white matter change rating scale, Fazekas scale, enlarged perivascular spaces grading scale, lacunar infarction scale, Microbleed Anatomical Rating Scale, global cortical atrophy scale, and small-vessel disease score. Factors associated with MRI lesions, including sex, clinical subtype, disease severity, disease burden, genotype, and biomarkers, were also analyzed. RESULTS: Of 71 patients, 16 (22.5%) experienced ischemic stroke. The incidences of lacunar infarctions, white matter hyperintensities, and cerebral microbleeds were 55%, 62%, and 33%, respectively. The abnormal MRI group had later disease onset, longer disease duration, and a higher Mainz Severity Score Index (p < 0.05) than the normal MRI group. Patients with more severe clinical phenotypes also had higher CVSD-related scores. Sex and GLA mutational type were not closely associated with brain MRI lesions. Of the disease markers, the Mainz Severity Score Index and plasma globotriaosylsphingosine (Lyso-Gb3) were closely correlated with the majority of the MRI scores, whereas α-galactosidase A activity was not. CONCLUSION: Brain MRI revealed progressive lacunar infarctions, white matter hyperintensities, and decreased brain volume in patients with Fabry disease. Brain MRI lesions were closely related to onset-age; disease duration, severity, burden; and plasma Lyso-Gb3. However, they were not associated with sex, α-galactosidase A activity, or GLA mutation type.

C-shaped porous polypropylene fibers for rapid oil absorption and effective on-line oil spillage monitoring.

Development of efficient absorbent materials for detection and treatment of offshore oil spillages remained a challenge. In this work, C-shaped polypropylene oil-absorbent fibers with sub-micron internal pores were prepared by combining spun-bonding technique and thermally induced phase separation (TIPS). The effect of drawing speed on the phase separation and the porous morphology of the shaped fiber non-woven fabric (NWF) was investigated. C-shaped NWF with porous morphology had large water contact angle, higher porosity, larger specific surface area, and increased oil absorption speed and capacity. An online oil spillage detection system was developed using porous C-shaped NWF and an oxygen sensing probe, showing shorter response time and higher signal-to-noise (STN) ratio. The response time for detecting the spillage of soybean oil and diluted crude oil (0.5 mL/0.8 L) in water were only 24 s and 10 s, respectively. The reliable oil detection low detection limit (RLDL) of the oxygen sensing probe was reduced 173 times (from 36.5 g/L to 0.21 g/L) when combined with C-shaped porous fiber NWF.