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1.
Hum Mol Genet ; 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38832639

RESUMEN

Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant ataxia caused by a large expansion of the (ATTCT)n repeat in ATXN10. SCA10 was described in Native American and Asian individuals which prompted a search for an expanded haplotype to confirm a common ancestral origin for the expansion event. All patients with SCA10 expansions in our cohort share a single haplotype defined at the 5'-end by the minor allele of rs41524547, located ~35 kb upstream of the SCA10 expansion. Intriguingly, rs41524547 is located within the miRNA gene, MIR4762, within its DROSHA cleavage site and just outside the seed sequence for mir4792-5p. The world-wide frequency of rs41524547-G is less than 5% and found almost exclusively in the Americas and East Asia-a geographic distribution that mirrors reported SCA10 cases. We identified rs41524547-G(+) DNA from the 1000 Genomes/International Genome Sample Resource and our own general population samples and identified SCA10 repeat expansions in up to 25% of these samples. The reduced penetrance of these SCA10 expansions may be explained by a young (pre-onset) age at sample collection, a small repeat size, purity of repeat units, or the disruption of miR4762-5p function. We conclude that rs41524547-G is the most robust at-risk SNP allele for SCA10, is useful for screening of SCA10 expansions in population genetics studies and provides the most compelling evidence to date for a single, prehistoric origin of SCA10 expansions sometime prior to or during the migration of individuals across the Bering Land Bridge into the Americas.

2.
Pharmacol Res ; 200: 107068, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38232908

RESUMEN

Leukopenia is the most common side effect of chemotherapy and radiotherapy. It potentially deteriorates into a life-threatening complication in cancer patients. Despite several agents being approved for clinical administration, there are still high incidences of pathogen-related disease due to a lack of functional immune cells. ADP-ribosyl cyclase of CD38 displays a regulatory effect on leukopoiesis and the immune system. To explore whether the ADP-ribosyl cyclase was a potential therapeutic target of leukopenia. We established a drug screening model based on an ADP-ribosyl cyclase-based pharmacophore generation algorithm and discovered three novel ADP-ribosyl cyclase agonists: ziyuglycoside II (ZGSII), brevifolincarboxylic acid (BA), and 3,4-dihydroxy-5-methoxybenzoic acid (DMA). Then, in vitro experiments demonstrated that these three natural compounds significantly promoted myeloid differentiation and antibacterial activity in NB4 cells. In vivo, experiments confirmed that the compounds also stimulated the recovery of leukocytes in irradiation-induced mice and zebrafish. The mechanism was investigated by network pharmacology, and the top 12 biological processes and the top 20 signaling pathways were obtained by intersecting target genes among ZGSII, BA, DMA, and leukopenia. The potential signaling molecules involved were further explored through experiments. Finally, the ADP-ribosyl cyclase agonists (ZGSII, BA, and DMA) has been found to regenerate microbicidal myeloid cells to effectively ameliorate leukopenia-associated infection by activating CD38/ADP-ribosyl cyclase-Ca2+-NFAT. In summary, this study constructs a drug screening model to discover active compounds against leukopenia, reveals the critical roles of ADP-ribosyl cyclase in promoting myeloid differentiation and the immune response, and provides a promising strategy for the treatment of radiation-induced leukopenia.


Asunto(s)
Antígenos CD , Leucopenia , Humanos , Ratones , Animales , ADP-Ribosil Ciclasa/metabolismo , ADP-Ribosil Ciclasa 1 , Antígenos CD/genética , Antígenos de Diferenciación/genética , Glicoproteínas de Membrana , Pez Cebra/metabolismo , Leucopenia/inducido químicamente , Leucopenia/tratamiento farmacológico
3.
Neurochem Res ; 48(9): 2794-2807, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37127800

RESUMEN

Pericytes play critical roles in the maintenance of brain vascular homeostasis. However, very little is currently known about how pericytes regulate ischemic stroke-induced brain injury. Inflammation is a key event in the pathobiology of stroke, in which the nod-like receptor protein-3 (NLRP3) inflammasome is involved in, triggering sterile inflammatory responses and pyroptosis. In the current study, an immortalized cell line derived from human brain vascular pericytes (HBVPs) was constructed, and it showed that HBVPs challenged with oxygen glucose deprivation (OGD) displays pronounced cellular excretion of LDH, IL-1ß, IL-18 and increased PI positive staining. Mechanistically, upon OGD treatment, NLRP3 forms an inflammasome with its adaptor protein apoptosis-associated speck-like protein, containing a caspase recruitment domain (ASC) and caspase-1, manifested as much more co-stainings of NLRP3, ASC and Caspase-1 in HBVPs, accompanied by the increased protein levels of NLRP3, ASC, caspase-1 as well as the pyroptosis-associated protein gasdermin D (GSDMD). Intriguingly, GSDMD-N shuttled to the mitochondrial membrane triggered by OGD exposure, which promoted massive mitochondria-derived ROS generation. Importantly, the invention value of the specific targets was evaluated by treatment with bellidifolin, a kind of ketone compound derived from Swertia chirayita in traditional Tibetan medicine. It showed that bellidifolin exerts beneficial effects and attenuates the formation of NLRP3/ASC/Caspase-1 complex, thereby impeding GSDMD-N shuttling and resultant ROS generation, protecting against OGD-induced HBVPs pyroptosis. Overall, these findings unravel the potential mechanisms of pericyte injury induced by OGD and indicate that bellidifolin may exert its beneficial effects on pyroptosis, thus providing new therapeutic insights into stroke.


Asunto(s)
Inflamasomas , Accidente Cerebrovascular , Humanos , Inflamasomas/metabolismo , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , Piroptosis , Pericitos , Oxígeno , Especies Reactivas de Oxígeno/metabolismo , Glucosa/farmacología , Caspasas/metabolismo , Encéfalo/metabolismo , Caspasa 1/metabolismo
4.
Environ Toxicol ; 37(5): 1185-1197, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35099092

RESUMEN

Cadmium (Cd) is an environmental pollutant that has an enormous influence on agricultural production, but selenium (Se) can alleviate its toxicity. The present study aimed to illustrate the effects of Se on Cd-induced heart injury. All 40 rabbits were randomly divided into four groups: control group, Se [0.5 mg kg-1 ·body weight (BW)] group, Cd (1 mg kg-1 ·BW) group, and Se + Cd group. After 30 days of feeding, morphological changes, the levels of oxidative stress and myocardial enzyme, the content of cardiac troponin T, programmed cell death (pyroptosis, autophagy and apoptosis), and PI3K/AKT/PTEN transduction capacity were observed. The results showed that Cd destroyed the physiological balance of trace elements and caused myocardial damage, increased the cardiac oxidative damage and led to programmed cell death. Coadministration of Se prominently ameliorated histological lesions and improved cardiac function of hearts in Cd-induced rabbits. Furthermore, Se exerted detoxification and oxidation resistance, maintained trace element homeostasis, and alleviated the changes of mRNA and protein levels of pyroptosis-, autophagy- and apoptosis-controlling factors and PI3K/AKT/PTEN signal molecules caused by Cd. In conclusion, Se might protect against Cd-induced pyroptosis, autophagy and apoptosis by interfering with PI3K/AKT/PTEN signaling in heart.


Asunto(s)
Lesiones Cardíacas , Selenio , Animales , Apoptosis , Cadmio/metabolismo , Estrés Oxidativo , Fosfatidilinositol 3-Quinasas/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Conejos , Selenio/farmacología
5.
Sensors (Basel) ; 20(5)2020 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-32120933

RESUMEN

Indium tin oxide (ITO) thin-film thermocouples monitor the temperature of hot section components in gas turbines. As an in situ measuring technology, the main challenge of a thin-film thermocouple is its installation on complex geometric surfaces. In this study, an ITO thin-film thermocouple probe based on a sapphire microrod was used to access narrow areas. The performance of the probe, i.e., the thermoelectricity and stability, was analyzed. This novel sensor resolves the installation difficulties of thin-film devices.

6.
J Sci Food Agric ; 100(4): 1757-1763, 2020 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-31825523

RESUMEN

BACKGROUND: Fungicides are often applied to pears before they are kept in storage facilities. The scientific application of pesticides can reduce unnecessary exposure, which in turn could benefit both humans and the environment. RESULTS: We investigated dissipation behavior and residue distribution, and conducted risk assessments for prochloraz, pyraclostrobin, and tebuconazole in pears stored under different conditions using ultra-performance liquid chromatography (UPLC). The recoveries of the three fungicides ranged from 76.5% to 114.5%, and the coefficients of variation were 1.0%-8.5%. The half-life (t1/2 ) ranges for degradation of the three fungicides in Dangshan Su pear peel were 8.8-13.9 days after storage at 25 °C and 99.0-346.6 days after storage at 2 °C. Among the three fungicides, tebuconazole had the lowest residue concentration in pear pulp (maximum of 0.226 mg·kg-1 ) and the longest half-life (≥ 231.0 days). Accordingly, among these fungicides, tebuconazole is the most suitable for the preservation of Dangshan Su pears during storage. Finally, we analyzed samples of six pear varieties from markets in China and found that the residue concentrations of the three fungicides in pear pulp and fruit met Chinese standards. CONCLUSION: The results provide a scientific basis for rationalizing the use of prochloraz, pyraclostrobin, and tebuconazole, and improving the safety of pears for eating. © 2019 Society of Chemical Industry.


Asunto(s)
Fungicidas Industriales/química , Residuos de Plaguicidas/química , Pyrus/química , China , Seguridad de Productos para el Consumidor , Contaminación de Alimentos/análisis , Frutas/química , Humanos , Imidazoles/química , Cinética , Estrobilurinas/química , Espectrometría de Masas en Tándem , Triazoles/química
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 821-825, 2019 Aug 10.
Artículo en Zh | MEDLINE | ID: mdl-31400137

RESUMEN

OBJECTIVE: To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation. METHODS: A comprehensive analysis including clinical investigation and genetic testing was carried out. RESULTS: The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A. CONCLUSION: Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.


Asunto(s)
Galactosilceramidasa/genética , Leucodistrofia de Células Globoides/genética , Enfermedades del Sistema Nervioso Periférico/etiología , Análisis Mutacional de ADN , Pruebas Genéticas , Humanos , Leucodistrofia de Células Globoides/complicaciones , Mutación
8.
Molecules ; 23(5)2018 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-29748523

RESUMEN

Two unprecedented homometallic CoII and ZnII coordination compounds, [M2(L)(OCH3)][M2(L)(OAc)] (MII = CoII (1) and ZnII (2)), with a novel symmetric bis(salamo)-like tetraoxime ligand H3L were synthesized and characterized by elemental analyses, infrafred (IR), ultraviolet⁻visible spectroscopy (UV-Vis), fluorescent spectra and single-crystal X-ray diffraction analyses. The unit cell of the two coordination compounds contains two crystallographically and chemically independent dinuclear coordination compounds. In the two coordination compounds, three metal ions are five-coordinated, formed two square pyramidal and a trigonal bipyramidal geometries, and the other metal ion is a hexacoordinate octahedral configuration. In addition, the coordination compound 1 forms a 3D supramolecular structure, and the coordination compound 2 forms a 0D dimer structure by the inter-molecular hydrogen bond interactions. Meanwhile, the fluorescence spectra of the coordination compounds 1 and 2 were also measured and discussed.


Asunto(s)
Cobalto/química , Complejos de Coordinación/química , Oximas/química , Zinc/química , Cristalografía por Rayos X , Dimerización , Enlace de Hidrógeno , Conformación Molecular , Espectrometría de Fluorescencia , Espectrofotometría Infrarroja , Espectrofotometría Ultravioleta
9.
Cerebellum ; 16(5-6): 991, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-29181771

RESUMEN

The original version of this article unfortunately contained an incorrect assignment of affiliations of Linwei Zhang and Tetsuo Ashizawa.

10.
Cerebellum ; 16(2): 595-598, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-27557734

RESUMEN

The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene. One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c.1529C > T, p.Ala510Val). The second mutated allele involved a single nucleotide deletion which results in a frameshift in the coding sequence (c.2271delG, p.Met757fs*65). The second allele is similar to, but unique from, other described, SPG7-linked truncation mutations. The abnormal emotional communication in this patient broadens the phenotypic boundary of SPG7.


Asunto(s)
Trastornos de la Comunicación/genética , Emociones , Metaloendopeptidasas/genética , Mutación , Paraplejía Espástica Hereditaria/genética , Paraplejía Espástica Hereditaria/psicología , ATPasas Asociadas con Actividades Celulares Diversas , Adulto , Ataxia/genética , Ataxia/psicología , Análisis Mutacional de ADN , Humanos , Masculino
11.
BMC Neurol ; 16: 87, 2016 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-27256065

RESUMEN

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases worldwide. CASE PRESENTATION: We describe a Chinese family with ARHSP-TCC. Two daughters of this family presented with a spastic gait and cognitive impairment. Brain imaging of the index patient revealed a thin corpus callosum. We performed detailed physical and auxiliary examinations and were able to exclude acquired causes of spastic paraplegia. To determine the causative mutation, we took a candidate gene approach and screened the coding sequence and some flanking intronic sequence of SPG11 by direct Sanger sequencing. We identified two novel compound heterozygous mutations in SPG11 in affected individuals (c.1551_1552delTT, p.Cys518SerfsTer39 and c.5867-1G > T (IVS30-1G > T), p.Thr1956ArgfsTer15). Bioinformatic analysis predicts that these mutations would lead to a loss of protein function due to the truncation of the SPG11 protein. CONCLUSIONS: The results of this case report indicate a broader approach to include screening for SPG11 mutations in ARHSP-TCC patients. Our findings enrich the phenotypic spectrum of SPG11 mutations.


Asunto(s)
Pueblo Asiatico/genética , Mutación , Proteínas/genética , Paraplejía Espástica Hereditaria/genética , Adulto , Cuerpo Calloso/patología , Análisis Mutacional de ADN/métodos , Femenino , Humanos , Masculino , Linaje
12.
Exp Ther Med ; 27(2): 61, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38234614

RESUMEN

Early neurological deterioration (END) is an unfavorable outcome of acute ischemic stroke and is associated with poor prognosis. Blood pressure variability has been suggested to be involved in the development of END. Therefore, the present study investigated the association between blood pressure variability and the development of END. In the present prospective observational study, 286 patients who developed acute ischemic stroke and then hospitalized within 24 h of stroke onset were recruited. Blood pressure parameters (systolic blood pressure, diastolic blood pressure and pulse pressure) were monitored using a 24 h ambulatory sphygmomanometer within 72 h of ischemic onset. Clinical characteristics were also recorded. Multivariate logistic regression analysis was used to analyze the possible relationship between blood pressure parameters and END after adjustment for confounders. Of the 286 patients in the present study, 64 (22.3%) developed END. Pulse pressure variables, including the mean of 24-h pulse pressure (24-h PPMEAN) and the mean of daytime pulse pressure (Day PPMEAN), were found to be higher in the END group compared with those in the non-END group (P<0.05). Multivariate logistic regression analysis revealed that the blood pressure parameters 24-h PPMEAN [odds ratio (OR), 1.08; 95% CI, 1.01-1.16; P=0.02) and Day PPMEAN (OR, 1.20; 95% CI, 1.011-1.45; P=0.04) were significantly associated with END. These findings suggest that the pulse pressure level fluctuations during the acute stage of ischemic stroke can serve important roles in the development of END, which worsens outcomes after stroke.

13.
J Hazard Mater ; 465: 133221, 2024 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-38103295

RESUMEN

Contamination in food and the environment with fluoroquinolones (FQs) has become a serious threat to the global ecological balance and public health safety. Ofloxacin (OFL) is one of the most widely utilized sterilization agents in FQs. In the process of monitoring OFL, broad-spectrum monoclonal antibodies (mAb) cannot meet the demand for monospecific detection. Here, a computational chemistry-assisted hapten screening strategy was proposed in this study. Differences in the properties of antigenic epitopes were precisely extracted through a comprehensive comparative study of 16 common FQs molecules and a monospecific and ultrasensitive mAb-3B4 for OFL was successfully prepared. The screened fleroxacin (FLE) hapten was applied in a heterologous competition strategy resulting in a 20-fold improvement in the half inhibitory concentration (IC50) of mAb-3B4 to 0.0375 µg L-1 and cross-reacted only with marbofloxacin (MAR) in regulated FQs. In addition, a single-chain variable fragment (scFv) for OFL was constructed for the first time with an IC50 of 0.378 µg L-1. Molecular recognition mechanism studies validated the reliability of this strategy and revealed the key amino acid sites responsible for OFL specificity and sensitivity. Finally, ic-ELISA and GICA were established for OFL in real samples. This work provides new ideas for the preparation of monospecific mAb and improves the monitoring system of FQs.


Asunto(s)
Química Computacional , Ofloxacino , Reproducibilidad de los Resultados , Fluoroquinolonas , Ensayo de Inmunoadsorción Enzimática , Haptenos , Antibacterianos/química
14.
Food Chem ; 456: 140036, 2024 Jun 12.
Artículo en Inglés | MEDLINE | ID: mdl-38878538

RESUMEN

1-Aminohydantoin (AHD), the residual marker of nitrofurantoin, is usually detected after derivatisation using the derivatisation reagent 2-nitrobenzaldehyde. Avoiding the antibody recognition of the derivatisation reagent is essential for the accurate detection of AHD residues. In this paper, a novel hapten called hapten D was designed, and then, a monoclonal antibody that did not recognise 2-nitrobenzaldehyde was prepared based on this novel hapten. An ultra-sensitive indirect competitive enzyme linked-immunosorbent assay (icELISA) was established under optimal conditions. The 50% inhibition concentration and limit of detection of AHD were 0.056 and 0.0060 ng/mL, respectively, which improved the sensitivity by 9-37-fold compared with the previously reported icELISA methods. The average recovery rates were 88.1%-97.3%, and the coefficient of variation was <8.6%. The accuracy and reliability of the icELISA were verified using liquid chromatography-tandem mass spectrometry. These results demonstrated that the developed icELISA is a useful and reliable tool.

15.
Environ Pollut ; 346: 123356, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38266696

RESUMEN

Bisphenol F (BPF), one of the major alternatives of Bisphenol A (BPA), is becoming extensively used in industrial production with great harm to human beings and environment. Recent studies have revealed that environmental exposure is crucial to the initiation and development of depression. Thereby, the aim the present study is to ascertain the correlationship between the BPF exposure and depression occurrence. In the current study, BPF strikingly triggered depression-like changes in mice through the sucrose preference test (SPT), tail suspension test (TST) and forced swim test (FST), accompanied by the perturbation of the kynurenine (KYN) metabolic pathway along the "liver-brain" axis. Mechanistically, the neurotransmitters from the tryptophan metabolic pathway were converted to the toxic KYN pathway after BPF treatment. With the ELISA assay, it revealed that the toxic KYN metabolites, including KYN and 3-hydroxykynurenine (3-HK), were strikingly increased in the mouse brains which was ascribed to the enhanced expression of the rate-limiting enzymes Indoleamine 2,3-dioxygenase (IDO1) and Kynurenine 3-monooxygenase (KMO) respectively. Interestingly, the increased brain KYN induced by BPF was also validated partially from the periphery, since the ELISA and western blotting results indicated the significantly increased KYN in the serum and L-type amino acid transporter 1 (LAT1) in the brain, the key transporter responsible for KYN and 3-HK crossing the blood-brain barrier. Intriguingly, the liver-derived KYN metabolic pathway was the important source of the peripheral KYN and 3-HK, as BPF substantially enhanced hepatic IDO1, Tryptophan, 2, 3-dioxygenase (TDO2), and KMO levels indicated by western blotting. This study is the first to delineate previously unrecognized BPF-induced depression by regulating the KYN metabolic pathway along the "liver-brain" axis; therefore, targeting LAT1 or hepatic KYN signaling may provide a potentially unique therapeutic intervention in BPF-induced depression.


Asunto(s)
Compuestos de Bencidrilo , Quinurenina , Fenoles , Triptófano , Humanos , Ratones , Animales , Quinurenina/metabolismo , Triptófano/metabolismo , Depresión/inducido químicamente , Encéfalo/metabolismo , Hígado/metabolismo , Redes y Vías Metabólicas
16.
J Biomed Res ; : 1-14, 2024 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-38808572

RESUMEN

As a potential endocrine-disrupting chemical, bisphenol F (BPF) may cause nonalcoholic fatty liver disease (NAFLD)-like changes, but the mechanisms underpinning its pathogenesis as well as the intervention strategies remain poorly understood. Using the electron microscopy technology, along with LipidTOX Deep Red neutral and Bodipy 493/503 staining assays, we observed that BPF treatment elicited a striking accumulation of lipid droplets in HepG2 cells, accompanied by an increased total level of triglycerides. At the molecular level, the lipogenesis-associated mRNAs and proteins, including acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase-1, peroxisome proliferator-activated receptor gamma, and CCAAT-enhancer-binding proteins, increased significantly via the AMP-activated protein kinase (AMPK)-mammalian target of rapamycin (mTOR) signaling regulation in both in vitro and in vivo studies. Furthermore, the immunofluorescence results also showed the robust lipogenesis induced by BPF, evident in its ability to promote the translocation of sterol regulatory element-binding protein-1c from the cytoplasm to the nuclei. To investigate the intervention strategies for BPF-induced NAFLD-like changes, we demonstrated that bellidifolin, isolated and purified from Swertia chirayita, significantly attenuated BPF-induced lipid droplet deposition in HepG2 cell and NAFLD-like changes in mice by blocking the expression of lipogenesis-associated proteins. Therefore, the present study elucidates the mechanisms underlying BPF-induced lipid accumulation in HepG2 cells, while also highlighting the potential of bellidifolin to mitigate BPF-induced NAFLD-like changes.

17.
Zhonghua Yi Xue Za Zhi ; 93(47): 3744-7, 2013 Dec 17.
Artículo en Zh | MEDLINE | ID: mdl-24548388

RESUMEN

OBJECTIVE: To investigate whether Chinese multiple system atrophy (MSA) patients have premutation of fragile X mental retardation 1 gene(FMR1). METHODS: FMR1 CGG repeats were analyzed in 157 MSA patients by polymerase chain reaction, agarose gel electrophoresis and capillary electrophoresis. The patients were collected from Movement Disorder & Neurogenetics Research Center of China-Japan friendship hospital. There were 83 male cases and 74 female cases, including 51 MSA-C patients, 12 MSA-P patients and 94 MSA-P+C patients. RESULTS: No FMR1 CGG repeat premutation was detected in 157 MSA patients. The repeats ranged from 11-49, most common allele was 22. A MSA-C case carried 35/49 alleles did not have middle cerebellar peduncles(MCP) sign which was necessary for the diagnosis of fragile X associated tremor ataxia syndrome(FXTAS). CONCLUSION: The FMR1 premutation in Chinese MSA patients might be very rare.


Asunto(s)
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Atrofia de Múltiples Sistemas/genética , Mutación , Alelos , Ataxia/genética , Femenino , Síndrome del Cromosoma X Frágil/genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Temblor/genética , Repeticiones de Trinucleótidos
18.
Micromachines (Basel) ; 14(5)2023 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-37241688

RESUMEN

In this paper, the temperature performance of AlN-SAW resonators and AlScN-SAW resonators is studied. They are simulated by COMSOL Multiphysics, and their modes and the S11 curve are analyzed. The two devices were fabricated using MEMS technology and tested using VNA, and the test results were consistent with the simulation results. Temperature experiments were carried out with temperature control equipment. With the change in temperature, the changes in S11 parameters, TCF coefficient, phase velocity, and quality factor Q were analyzed. The results show that the temperature performance of the AlN-SAW resonator and the AlScN-SAW resonator is very good, and both have good linearity. At the same time, the sensitivity of the AlScN-SAW resonator is greater by 9.5%, the linearity is greater by 15%, and the TCF coefficient is greater by 11.1%. The temperature performance is excellent, and it is more suitable as a temperature sensor.

19.
Foods ; 12(19)2023 Oct 08.
Artículo en Inglés | MEDLINE | ID: mdl-37835348

RESUMEN

This study investigated the effects of three oil production methods on the physicochemical properties of dietary fiber from rice bran flour, and the hypolipidemic effects of the dietary fibers were investigated in vitro and in vivo. The particle size results showed that the organic-solvent-impregnated rice bran meal dietary fiber (N-RBDF) had the smallest average particle size and the aqueous enzymatic rice bran meal dietary fiber (E-RBDF) had the narrowest particle size distribution. Scanning electron microscopy (SEM) results demonstrated that all three kinds of rice bran meal dietary fibers (RBDFs) were irregularly flaky. Fourier transform infrared spectroscopy (FT-IR) results revealed that the three RBDFs had similar reactive groups, and X-ray diffraction (XRD) results indicated that all three RBDFs were cellulose type I crystals. The results of thermogravimetric analysis showed that the lignin content of N-RBDF was significantly lower than that of the other two. Among the three kinds of RBDFs, E-RBDF had higher water retention capacity, swelling capacity, oil holding capacity, and adsorption capacity for cholesterol and sodium bile salts. The results of experimental studies in hyperlipidemic rats showed that all three kinds of RBDFs significantly reduced triglycerides (TG), total cholesterol (TC), and low-density lipoprotein cholesterol (LDL-C) and elevated high-density lipoprotein cholesterol (HDL-C) in the serum of hyperlipidemic rats; they also significantly lowered malondialdehyde (MDA) and elevated total superoxide dismutase (T-SOD) and glutathione peroxidase (GSH-Px) activities in the livers of rats. In addition, all three kinds of RBDFs decreased aminotransferase (ALT) and aminotransferase (AST) activity in serum and also improved liver steatosis and reduced atherosclerosis index (AI) in rats with hyperlipidemia. Our study provides a reference for the development and utilization of rice bran meal and the application of rice bran meal dietary fiber in food processing.

20.
Micromachines (Basel) ; 14(5)2023 May 18.
Artículo en Inglés | MEDLINE | ID: mdl-37241691

RESUMEN

In this paper, a high-sensitivity microelectromechanical system (MEMS) piezoelectric accelerometer based on a Scandium-doped Aluminum Nitride (ScAlN) thin film is proposed. The primary structure of this accelerometer is a silicon proof mass fixed by four piezoelectric cantilever beams. In order to enhance the sensitivity of the accelerometer, the Sc0.2Al0.8N piezoelectric film is used in the device. The transverse piezoelectric coefficient d31 of the Sc0.2Al0.8N piezoelectric film is measured by the cantilever beam method and found to be -4.7661 pC/N, which is approximately two to three times greater than that of a pure AlN film. To further enhance the sensitivity of the accelerometer, the top electrodes are divided into inner and outer electrodes; then, the four piezoelectric cantilever beams can achieve a series connection by these inner and outer electrodes. Subsequently, theoretical and finite element models are established to analyze the effectiveness of the above structure. After fabricating the device, the measurement results demonstrate that the resonant frequency of the device is 7.24 kHz and the operating frequency is 56 Hz to 2360 Hz. At a frequency of 480 Hz, the sensitivity, minimum detectable acceleration, and resolution of the device are 2.448 mV/g, 1 mg, and 1 mg, respectively. The linearity of the accelerometer is good for accelerations less than 2 g. The proposed piezoelectric MEMS accelerometer has demonstrated high sensitivity and linearity, making it suitable for accurately detecting low-frequency vibrations.

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