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1.
Artigo em Inglês | MEDLINE | ID: mdl-39356200

RESUMO

High-/medium-entropy materials have been explored as promising electrocatalysts for water splitting due to their unique physical and chemical properties. Unfortunately, state-of-the-art materials face the dilemma of explaining the enhancement mechanism, which is now limited to theoretical models or an unclear cocktail effect. Herein, a medium-entropy NiCoFeMnP with an advanced hierarchical particle-nanosheet-tumbleweed nanostructure has been synthesized via simple precursor preparation and subsequent phosphorization. Evaluated as the electrocatalyst for oxygen evolution reaction (OER), the medium-entropy NiCoFeMnP displays a lower overpotential of 272 mV at a current density of 10 mA cm-2, and more favorable kinetics than the binary NiFeP, ternary NiCoFeP, quaternary NiCoFeCuP and NiCoFeCrP counterparts, and other reported high-/medium-entropy electrocatalysts. Careful experimental analyses reveal that the incorporation of Mn can significantly regulate the electronic structure of Ni, Co, and Fe sites. More importantly, the Mn introduction and entropy stabilization effect in the reconstructed metal (oxy)hydroxide simultaneously promote the lattice oxygen mechanism, improving the activity. This work sheds new light on the design of high-/medium-entropy materials from an in-depth understanding of the underlying mechanism for improving energy conversion efficiency.

2.
J Inherit Metab Dis ; 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39227307

RESUMO

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population. A total of 726 patients were included, including 96 patients under 14 years of age. Dried blood spots (DBS) and tandem mass spectrometry (MS/MS) were employed to evaluate serum GAA activity. Forty-four patients exhibited a decreased GAA activity, 16 (2.2%) of which were confirmed as LOPD by genetic testing. Three previously unreported GAA mutations were also identified. The median diagnostic delay was shortened to 3 years, which excelled the previous retrospective studies. At diagnosis, most patients exhibited impaired respiratory function and/or limb-girdle weakness. Elevated serum creatine kinase (CK) levels were more frequently observed in patients who manifested before age 16. Overall, high-risk screening is a feasible and efficient method to identify LOPD patients at an early stage. Patients over 1 year of age with either weakness in axial and/or proximal limb muscles, or unexplained respiratory distress shall be subject to GAA enzymatic test, while CK levels above 2 times the upper normal limit shall be an additional criterion for patients under 16. This modified high-risk screening criteria for LOPD requires further validation in larger Chinese cohorts.

3.
Poult Sci ; 103(12): 104312, 2024 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-39316981

RESUMO

Selenium-enriched Saccharomyces cerevisiae (SSC) as organic selenium (Se) has been shown to have better advantages and is approved for use in animal feed rather than inorganic Se, however, there is little available data on the toxic effects of SSC on poultry. The present study was conducted to investigate the effects of high-dose SSC on growth performance, antioxidant status, tissue fat content and Se concentration, and selenoenzyme mRNA expression in chicks. A total of 500, 1-day-old SPF chicks were randomly divided into 5 groups with 10 replicates of 10 chicks each. Group 1 served as a control and was fed a basal diet supplemented with 0.15 mg/kg Se from sodium selenite (SS), group 2 was fed the basic diet supplemented with 1.5 mg/kg Se from SS, while groups 3, 4, and 5 were fed the basal diet supplemented with 1.5, 5 and 10 mg/kg Se from SSC, respectively. The results showed that SS and SSC supplementation significantly affected the average daily feed intake (ADFI), feed/gain ratio (FCR), glutathione peroxidase (GPx) and superoxide dismutase (SOD) activities, total antioxidant capacity (T-AOC), malondialdehyde (MDA) content, tissue fat content and Se concentration, and GPx1 and GPx4 mRNA levels compared with the control group (P < 0.05). Compared with group 2, group 3 exhibited higher GPx and SOD activities, tissue Se concentration, and lower MDA content on d 30, and higher Se concentration, GPx1 mRNA levels in liver and breast muscle and GPx4 mRNA levels in liver and thigh muscle, and lower MDA content on d 60 (P < 0.05). The results of correlation analysis showed that high-dose SSC supplementation was positively correlated with AFDI, FCR, MDA content, and tissue Se concentration, and negatively correlated with GPx and SOD activities, T-AOC, GPx1 and GPx4 mRNA levels in tissues. In conclusion, up to 1.5 mg/kg Se from SSC in diet may be a safe concentration for chicks that exhibited better biological effects than SS, the toxic effects of high-dose SSC supplementation mainly exhibited growth decrease, peroxidation and lipid metabolism disturbance, and became stronger with the increase of dietary Se levels.

4.
J Med Genet ; 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39332896

RESUMO

BACKGROUND: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the GNE gene, which is essential for the sialic acid biosynthesis pathway. OBJECTIVE: This multi-centre study aimed to delineate the clinical phenotype and GNE variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations. METHODS: We retrospectively analysed GNE variants from 113 patients, integrating these data with external GNE variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity. RESULTS: This study revealed 97 distinct GNE variants, including 35 (36.08%) novel variants. Two more patients with deep intronic variant c.862+870C>T were identified, while whole genome sequencing (WGS) uncovered another two novel intronic variants: c.52-8924G>T and c.1505-12G>A. Nanopore long reads sequencing (LRS) and further PCR analysis verified a 639 bp insertion at chr9:36249241. Missense variants predominantly located in the epimerase/kinase domain coding region, indicating the impairment of catalytic function as a key pathogenic consequence. Comparative studies with Japanese, Korean and Jewish, our cohorts showed later onset ages by 2 years. The high allele frequency of the non-catalytic GNE variant, c.620A>T, might underlie the milder phenotype of Chinese patients. CONCLUSIONS: Comprehensive techniques such as WGS and Nanopore LRS warrants the identifying of GNE variants. Patients with the non-catalytic GNE variant, c.620A>T, had a milder disease progression and later wheelchair use.

5.
BMC Genom Data ; 25(1): 76, 2024 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-39187758

RESUMO

Phenylalanine ammonia lyase (PAL) is a widely studied enzyme in plant biology due to its role in connecting primary metabolism to secondary phenylpropanoid metabolism, significantly influencing plant growth, development, and stress response. Although PAL genes have been extensively studied in various plant species but their exploration in cucumber has been limited. This study successfully identified 11 CsPAL genes in Cucumis sativus (cucumber). These CsPAL genes were categorized based on their conserved sequences revealing patterns through MEME analysis and multiple sequence alignment. Interestingly, cis-elements related to stress were found in the promoter regions of CsPAL genes, indicating their involvement in responding to abiotic stress. Furthermore, these gene's promoters contained components associated with light, development and hormone responsiveness. This suggests that they may have roles in hormone developmental processes. MicroRNAs were identified as a key regulators for the CsPAL genes, playing a crucial role in modulating their expression. This discovery underscores the complex regulatory network involved in the plant's response to various stress conditions. The influence of these microRNAs further highlights the complicated mechanisms that plants use to manage stress. Gene expression patterns were analyzed using RNA-seq data. The significant upregulation of CsPAL9 during HT3h (heat stress for 3 h) and the heightened upregulation of both CsPAL9 and CsPAL7 under HT6h (heat stress for 6 h) in the transcriptome study suggest a potential role for these genes in cucumber's tolerance to heat stress. This comprehensive investigation aims to enhance our understanding of the PAL gene family's versatility, offering valuable insights for advancements in cucumber genetics.


Assuntos
Cucumis sativus , Regulação da Expressão Gênica de Plantas , Fenilalanina Amônia-Liase , Estresse Fisiológico , Cucumis sativus/genética , Cucumis sativus/enzimologia , Fenilalanina Amônia-Liase/genética , Fenilalanina Amônia-Liase/metabolismo , Estresse Fisiológico/genética , Família Multigênica/genética , Regiões Promotoras Genéticas/genética , MicroRNAs/genética , MicroRNAs/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Filogenia , Genoma de Planta/genética , Sequência Conservada/genética
6.
Materials (Basel) ; 17(14)2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-39063710

RESUMO

Aiming at the repairing of keyhole defects after friction stir welding of complex structures, a new method combined with tungsten inert gas welding (TIG) and friction stir processing (FSP) was proposed. The results showed that the pre-filling wire of TIG can completely fill the volumetric keyhole. FSP can refine the coarse grain area into equiaxial grains due to dynamic recrystallization, while some pore defects are eliminated. The interface bonding quality is high. The microhardness of the repairing zone with FSP is significantly stronger than that of the untreated parts. Compared to direct TIG repairing, the introduction of FSP transformed the fracture from brittle fracture to ductile fracture, and the tensile strength of the joint was increased by 131.7%, realizing the high-quality repairing of keyhole defects in 2195 Al-Li alloy.

7.
BMC Genom Data ; 25(1): 71, 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39030545

RESUMO

The coffee industry holds importance, providing livelihoods for millions of farmers globally and playing a vital role in the economies of coffee-producing countries. Environmental conditions such as drought and temperature fluctuations can adversely affect the quality and yield of coffee crops.Carotenoid cleavage oxygenases (CCO) enzymes are essential for coffee plants as they help break down carotenoids contributing to growth and stress resistance. However, knowledge about the CCO gene family in Coffee arabica was limited. In this study identified 21 CCO genes in Coffee arabica (C. arabica) revealing two subfamilies carotenoid cleavage dioxygenases (CCDs) and 9-cis-epoxy carotenoid dioxygenases (NCED) through phylogenic analysis. These subfamilies exhibited distribution patterns in terms of gene structure, domains, and motifs. The 21 CaCCO genes, comprising 5 NCED and 16 CCD genes were found across chromosomes. Promoter sequencing analysis revealed cis-elements that likely interact with plant stress-responsive, growth-related, and phytohormones, like auxin and abscisic acid. A comprehensive genome-wide comparison, between C. arabica and A. thaliana was conducted to understand the characteristics of CCO genes. RTqPCR data indicated that CaNCED5, CaNCED6, CaNCED12, and CaNCED20 are target genes involved in the growth of drought coffee plants leading to increased crop yield, in a conditions, with limited water availability. This reveals the role of coffee CCOs in responding to abiotic stress and identifies potential genes useful for breeding stress-resistant coffee varieties.


Assuntos
Coffea , Oxigenases , Filogenia , Estresse Fisiológico , Estresse Fisiológico/genética , Oxigenases/genética , Oxigenases/metabolismo , Coffea/genética , Família Multigênica , Regulação da Expressão Gênica de Plantas , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Dioxigenases/genética , Dioxigenases/metabolismo , Genoma de Planta/genética , Café/genética , Regiões Promotoras Genéticas/genética , Carotenoides/metabolismo , Estudo de Associação Genômica Ampla
8.
Int J Surg ; 2024 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-39037728

RESUMO

The management and outcomes of patients with thymoma associated with myasthenia gravis (TAMG) are heterogeneous. Here, we propose a novel classification system based on Masaoka stage and Myasthenia Gravis Foundation of America (MGFA) classification, aiming to guide surgical decisions and perioperative management for these patients. Considering both oncological and neurological factors, this novel TAMG classification provides valuable information on outcome stratification and clinical decision-making for TAMG.

9.
Opt Express ; 32(12): 21175-21190, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38859478

RESUMO

The design of optical systems not only considers the imaging performance but also the manufacturing difficulty and feasibility of the system. In practice, errors in the manufacturing process of glass materials and deviations in glass material parameters introduced in complex environments can both lead to degradation in the imaging quality of optical systems. Optical systems that are sensitive to glass material errors face increased manufacturing difficulty and reduced stability. This paper, based on geometrical optics theory, establishes an evaluation function for refractive index error sensitivity and analyzes its relationship with optical parameters and glass materials. It proposes a design method to reduce the refractive index sensitivity of optical systems. Through simulation verification and analysis using examples, the validity of the desensitization design method is confirmed.

10.
Materials (Basel) ; 17(9)2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38730913

RESUMO

The reliability of friction stir welded joints is a critical concern, particularly given their potential applications in the aerospace manufacturing industry. This study offers a quasi-in situ observation of the microstructural response during fatigue crack growth (FCG) of a friction stir welded AA2024-T4 joint, aiming to correlate fatigue crack growth behavior with mechanical properties investigated using electron backscatter diffraction (EBSD). Notched compact tension (CT) specimens corresponding to the morphology of the stir zone (SZ), advancing side (AS), and retreating side (RS) were meticulously designed. The findings indicate that the welding process enhances the joint's resistance to fatigue crack growth, with the base metal exhibiting a shorter fatigue life (i.e., ~105 cycles) compared to the welding zones (SZ ~ 3.5 × 105 cycles, AS ~ 2.5 × 105 cycles, and RS ~ 3.0 × 105 cycles). Crack propagation occurs within the stir zone, traversing refined grains, which primarily contribute to the highest fatigue life and lowest FCG rate. Additionally, cracks initiate in AS and RS, subsequently expanding into the base metal. Moreover, the study reveals a significant release of residual strain at the joint, particularly notable in the Structural-CT-RS (Str-CT-RS) sample compared to the Str-CT-AS sample during the FCG process. Consequently, the FCG rate of Str-CT-AS is higher than that of Str-CT-RS. These findings have significant implications for improving the reliability and performance of aerospace components.

11.
Materials (Basel) ; 17(8)2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38673187

RESUMO

To obtain high-quality joints of Al/steel dissimilar materials, a new extrinsic-riveting friction stir lap welding (ERFSLW) method was proposed combining the synthesis advantages of mechanical riveting and metallurgical bonding. SiC-reinforced Al matrix composite bars were placed in the prefabricated holes in Al sheets and steel sheets, arranged in a zigzag array. The bars were stirred and mixed with Al sheets under severe plastic deformation (SPD), forming composite rivets to strengthen the mechanical joining. SiC particles were uniformly dispersed in the lower part of the welding nugget zone (WNZ). The smooth transition between the SiC mixed zone and extrinsic-riveting zone (ERZ) ensured the metallurgical bonding. The maximum tensile shear load of the joints reached 7.8 kN and the maximum load of the weld per unit length was 497 N/mm. The fracture occurred at the interface between the rivets and steel sheets rather than the conventional Al/steel joining interface. Moreover, ERFSLW can prolong the service life of joints due to three fracture stages. This method can be further extended to the welding of other dissimilar materials that conform to the model of "soft/hard".

12.
Front Endocrinol (Lausanne) ; 15: 1354511, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38590822

RESUMO

Background: Diabetic peripheral neuropathy (DPN) contributes to disability and imposes heavy burdens, while subclinical DPN is lack of attention so far. We aimed to investigate the relationship between vitamin D and distinct subtypes of subclinical DPN in type 2 diabetes (T2DM) patients. Methods: This cross-sectional study included 3629 T2DM inpatients who undertook nerve conduction study to detect subclinical DPN in Zhongshan Hospital between March 2012 and December 2019. Vitamin D deficiency was defined as serum 25-hydroxyvitamin D (25(OH)D) level < 50 nmol/L. Results: 1620 (44.6%) patients had subclinical DPN and they were further divided into subgroups: distal symmetric polyneuropathy (DSPN) (n=685), mononeuropathy (n=679) and radiculopathy (n=256). Compared with non-DPN, DPN group had significantly lower level of 25(OH)D (P < 0.05). In DPN subtypes, only DSPN patients had significantly lower levels of 25(OH)D (36.18 ± 19.47 vs. 41.03 ± 18.47 nmol/L, P < 0.001) and higher proportion of vitamin D deficiency (78.54% vs. 72.18%, P < 0.001) than non-DPN. Vitamin D deficiency was associated with the increased prevalence of subclinical DPN [odds ratio (OR) 1.276, 95% confidence interval (CI) 1.086-1.501, P = 0.003] and DSPN [OR 1. 646, 95% CI 1.31-2.078, P < 0.001], independent of sex, age, weight, blood pressure, glycosylated hemoglobin, T2DM duration, calcium, phosphorus, parathyroid hormone, lipids and renal function. The association between vitamin D deficiency and mononeuropathy or radiculopathy was not statistically significant. A negative linear association was observed between 25(OH)D and subclinical DSPN. Vitamin D deficiency maintained its significant association with subclinical DSPN in all age groups. Conclusions: Vitamin D deficiency was independently associated with subclinical DSPN, rather than other DPN subtypes.


Assuntos
Diabetes Mellitus Tipo 2 , Neuropatias Diabéticas , Mononeuropatias , Deficiência de Vitamina D , Humanos , Fatores de Risco , Neuropatias Diabéticas/epidemiologia , Neuropatias Diabéticas/etiologia , Estudos Transversais , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/epidemiologia , Mononeuropatias/complicações
13.
Huan Jing Ke Xue ; 45(5): 2952-2961, 2024 May 08.
Artigo em Chinês | MEDLINE | ID: mdl-38629556

RESUMO

To explore the pollution characteristics and source of soil heavy metal in a coal mine area near the Yellow River in Shandong, the geo-accumulation index method and improved Nemerow pollution index method were used to evaluate the pollution characteristics of soil heavy metal. The absolute principal component-multiple linear regression model (APCS-MLR) was used to quantitatively analyze the source of soil heavy metal, and the spatial distribution of Hg and Cd were analyzed using the Kriging spatial difference method in ArcGIS. The result accuracy of the APCS-MLR model was further verified. The results showed that:The measured contents of soil heavy metal Cu, Zn, Pb, Cr, Cd, Ni, As, and Hg all exceeded the normal site, among which, Hg and Cd exceeded the background values of soil elements in Shandong. The coefficient of variation (CV) of Hg was higher than 0.500, indicating significant spatial heterogeneity. Moreover, the correlation between Hg and other heavy metals was generally low, and the possibility of the same pollution source was small. The results of the geo-accumulation index and improved Nemerow pollution index showed that the overall soil heavy metal pollution was at a moderate level, among which the Hg pollution level was the highest, and its maximum value was at a slanted-heavy pollution level; Cu, Cd, and As in soil caused local pollution, which were at a slanted-light pollution level. Soil heavy metal pollution was closely related to mining activities, rehabilitation, and engineering construction in the coal mine area. The two major pollution sources of soil heavy metal in the research area were the compound source of the parent material and industrial and mining transportation sources (known source 1) and the compound source of atmospheric sedimentation and coal production (known source 2), the contribution rates of which were 76.705% and 16.171%, respectively. The results of the APCS-MLR model were shown to be reliable by analyzing the content distribution of Hg and Cd using the Kriging space difference mode. This research can provide scientific basis for the precise control and improvement of soil heavy metal pollution, ensuring the safety of food and agricultural products and improving the quality of the ecological environment in the coal mine area in the Shandong section of the Yellow River Basin.

14.
Orphanet J Rare Dis ; 19(1): 103, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38454488

RESUMO

BACKGROUND: As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical characteristics of Chinese Han DM1 patients. METHODS: Based on the multicenter collaborating effort of the Pan-Yangtze River Delta Alliance for Neuromuscular Disorders, patients with suspected clinical diagnoses of DM1 were genetically confirmed from January 2020 to April 2023. Peak CTG repeats in the DMPK gene were analyzed using triplet repeat-primed PCR (TP-PCR) and flanking PCR. Time-to-event analysis of onset age in females and males was performed. Additionally, detailed clinical features and longitudinal changes from the disease onset in 64 DM1 patients were retrospectively collected and analyzed. The Epworth Sleepiness Scale and Fatigue Severity Scale were used to quantify the severity of daytime sleepiness and fatigue. RESULTS: Among the 211 genetically confirmed DM1 patients, the mean age at diagnosis was 40.9 ± 12.2 (range: 12-74) with a male-to-female ratio of 124:87. The average size of CTG repeats was 511.3 (range: 92-1945). Among the DM1 patients with comprehensive clinical data (n = 64, mean age 41.0 ± 12.0), the age at onset was significantly earlier in males than in females (4.8 years earlier, p = 0.026). Muscle weakness (92.2%), myotonia (85.9%), and fatigue (73.4%) were the most prevalent clinical features. The predominant involved muscles at onset are hands (weakness or myotonia) (52.6%) and legs (walking disability) (42.1%). Of them, 70.3% of patients had daytime sleepiness, 14.1% had cataract surgery, 7.8% used wheelchairs, 4.7% required ventilatory support, and 1.6% required gastric tubes. Regarding the comorbidities, 4.7% of patients had tumors, 17.2% had diabetes, 23.4% had dyspnea, 28.1% had intermittent insomnia, 43.8% experienced dysphagia, and 25% exhibited cognitive impairment. Chinese patients exhibited smaller size of CTG repeats (468 ± 139) than those reported in Italy (613 ± 623), the US (629 ± 386), and Japan (625 [302, 1047]), and milder phenotypes with less multisystem involvement. CONCLUSION: The Chinese Han DM1 patients presented milder phenotypes compared to their Caucasian and Japanese counterparts. A male predominance and an early age of onset were identified in male Chinese Han DM1 patients.


Assuntos
Distúrbios do Sono por Sonolência Excessiva , Miotonia , Distrofia Miotônica , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Fadiga , Distrofia Miotônica/genética , Distrofia Miotônica/diagnóstico , Estudos Retrospectivos , Criança , Adolescente , Adulto Jovem , Idoso , Estudos Multicêntricos como Assunto , Estudos de Coortes
15.
Int J Surg Case Rep ; 115: 109241, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38219512

RESUMO

INTRODUCTION: The perioperative efficacy and safety of efgartigimod in patients with thymoma associated myasthenia gravis have not been reported. CASE PRESENTATION: We described the case of a 47-year-old woman who presented thymoma associated myasthenia gravis. Primarily, the patient was treated with acetylcholinesterase inhibitors, immunosuppressive medications, and intravenous immunoglobulin. Unfortunately, the control of symptoms was unsatisfactory. The patient was treated with recommended dosage of efgartigimod (10 mg/kg administered as a 1 h intravenous infusion once weekly for 2 weeks) combined with immunosuppressive therapy. Consequently, improved outcomes and rapid clinical remission were observed. Then, modified subxiphoid thoracoscopic thymectomy was performed smoothly and the patient was discharged from hospital after recovery in short time. DISCUSSION: Administration of efgartigimod could control symptoms significantly and rapidly. Efgartigimod provides the opportunity of thymectomy in short time. Importantly, there was no any perioperative complication or any adverse event related to efgartigimod. CONCLUSION: The improved outcomes of the patient with thymoma associated myasthenia gravis highlight the importance of efgartigimod. Large-scale clinical trials are needed to validate the safety and efficacy of efgartigimod during the perioperative period of thymectomy.

16.
J Med Genet ; 61(4): 340-346, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-37923380

RESUMO

BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5' untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1. However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown. METHODS: A total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in this study. Clinical data and laboratory findings were collected. Muscle samples were observed by histological and immunofluorescent staining. Long-read sequencing was initially conducted in six patients with OPDM. Repeat-primed PCR was used to screen the CGG repeat expansions in LOC642361/NUTM2B-AS1 in all 26 patients. RESULTS: We identified CGG repeat expansion in the non-coding transcripts of LOC642361/NUTM2B-AS1 in another two unrelated Chinese cases with typical pathoclinical features of OPDM. The repeat expansion was more than 70 times in the patients but less than 40 times in the normal controls. Both patients showed no leucoencephalopathy but one showed mild cognitive impairment detected by Montreal Cognitive Assessment. Rimmed vacuoles and p62-positive intranuclear inclusions (INIs) were identified in muscle pathology, and colocalisation of CGG RNA foci with p62 was also found in the INIs of patient-derived fibroblasts. CONCLUSIONS: We identified another two unrelated cases with CGG repeat expansion in the long non-coding RNA of the LOC642361/NUTM2B-AS1 gene, presenting with a phenotype of OPDM. Our cases broadened the recognised phenotypic spectrum and pathogenesis in the disease associated with CGG repeat expansion in LOC642361/NUTM2B-AS1.


Assuntos
Distrofias Musculares , Adulto , Humanos , Distrofias Musculares/genética , Fenótipo , Corpos de Inclusão Intranuclear/genética , Expansão das Repetições de Trinucleotídeos/genética
17.
Toxics ; 11(11)2023 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-37999540

RESUMO

It is crucial for effectively controlling potentially toxic element (PTE) pollution to understand the pollution situation, ecological risks, health risks, and migration patterns of PTEs. However, currently, no research has been conducted on the migration patterns of soil PTEs from coal mining subsidence areas to waterlogged areas under different restoration modes. In this study, a total of 15 sediment samples and 60 soil samples were collected from landscaped wetlands, aquaculture wetland, fish-photovoltaic complementary wetland, photovoltaic wetland, and waterlogged areas with untreated coal mining subsidence. The PTE pollution status, ecological risks, health risks, migration patterns, and the important factors influencing the migration were analyzed. The results indicated that the comprehensive pollution level of PTEs in waterlogged areas with coal mining subsidence can be reduced by developing them into landscaped wetlands, aquaculture wetlands, fish-photovoltaic complementary wetlands, and photovoltaic wetlands. Additionally, the closer to the waterlogged area, the higher the Cu content in the subsidence area soil is, reaching its peak in the waterlogged area. The Cd was influenced positively by SOC and pH. The research results were of great significance for formulating reclamation plans for waterlogged areas and controlling PTE pollution.

18.
Front Vet Sci ; 10: 1259760, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38026674

RESUMO

This study aimed to investigate the effects of the combination of selenium and Bacillus subtilis (Se-BS) on the quality and flavor of meat and slaughter performance of broilers. A total of 240 one-day-old Arbor Acres broilers were randomly allotted to four treatments of a basal diet supplemented with no selenium (control), sodium selenite (SS), BS, or Se-BS and raised for 42 days. Compared with the control group, Se-BS significantly increased the carcass weight, the half-eviscerated weight, the completely eviscerated weight, the carcass rate, and redness in broiler muscles; improved the antioxidant state by increasing glutathione peroxidase (GPx) and glutathione S-transferase activities, the total antioxidant capacity, and GPx-1 and thioredoxin reductase 1 messenger RNA (mRNA) levels; promoted biological activity by increasing the contents of glutamate, phenylalanine, lysine, and tyrosine; and increased Se and five types of nitrogenous volatile substances in muscles. On the other hand, Se-BS treatment decreased the shear force, drip loss, and the malondialdehyde, glutathione, and lead contents in muscles. Se-BS exerted a better effect on slaughter performance, the physicochemical quality of meat, the redox status, the amino acid contents, the trace element contents, and volatile substances compared with SS and BS. In conclusion, Se-BS had a positive effect on the quality and flavor of meat and slaughter performance of broilers, suggesting that Se-BS may be a beneficial feed additive.

19.
BMC Genomics ; 24(1): 600, 2023 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-37814208

RESUMO

BACKGROUND: MicroRNAs (miRNAs) play an important regulatory role in mammalian reproduction. Currently, most studies are primarily concentrated on ovarian miRNAs, ignoring the influence of endometrial miRNAs on the fecundity of female sheep. To uncover potential regulators of sheep fecundity, RNA-seq was used to comparatively analyze miRNA expression profiles of endometrium between high prolificacy sheep (HP, litter size = 3) and low prolificacy sheep (LP, litter size = 1) with FecB genotype. RESULTS: Firstly, genomic features of miRNAs from endometrium were analyzed. Furthermore, 58 differentially expressed (DE) miRNAs were found in the endometrium of Hu sheep with different litter size. A co-expression network of DE miRNAs and target genes has been constructed, and hub genes related litter size are included, such as DE miRNA unconservative_NC_019472.2_1229533 and unconservative_NC_019481.2_1637827 target to estrogen receptor α (ESR1) and unconservative_NC_019481.2_1637827 targets to transcription factor 7 (TCF7). Moreover, functional annotation analysis showed that the target genes (NRCAM and NEGR1) of the DE miRNAs were significantly enriched in cell adhesion molecules (CAMs) signaling pathway, which was related to uterine receptivity. CONCLUSION: Taken together, this study provides a new valuable resource for understanding the molecular mechanisms underlying Hu sheep prolificacy.


Assuntos
MicroRNAs , Ovinos/genética , Feminino , Animais , MicroRNAs/genética , MicroRNAs/metabolismo , Perfilação da Expressão Gênica , RNA Mensageiro/genética , Fertilidade/genética , Endométrio/metabolismo , Mamíferos/genética
20.
Opt Express ; 31(21): 34477-34492, 2023 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-37859203

RESUMO

Off-axis optical systems have several important advantages over on-axis ones. However, high polarization aberrations, which play important roles in many applications, become critical disadvantages of off-axis systems. Thanks to the seven free design parameters, three-mirror reflective systems have a good potential to achieve low polarization. A general method to design low polarization off-axis three-mirror reflective optical systems is proposed in this paper. Based on genetic algorithms, several off-axis three-mirror systems with both low polarization aberrations and good wave aberrations are designed. The method proposed in this paper is versatile and can be used to design other types of optical systems that demand low polarization aberrations.

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