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Salinization is a severe threat to agriculture and the environment in many areas, and the same in Qaidam Basin, Qinghai Province, Northwestern China. Microorganisms have an important influence on regulating the biochemical cycles of ecosystems; however, systematic research exploring microbial diversity and interactions with saline-soil ecosystems' environmental variables remains scarce. Thus, 16â¯S rRNA high-throughput sequencing was performed in this paper to characterize microbial diversity under different levels of salinized soils: non-salinized (NS, 2.25â¯g/L), moderately salinized (MS, 6.14â¯g/L) and highly salinized (HS, 9.82â¯g/L). The alpha diversity results showed that the HS soil was significantly different from the NS and MS soils. An analysis of similarity (ANOSIM) and a principal co-ordinates analysis (PCoA) indicated that NS and MS clustered closely while HS separated from the other two. Significant differences in microbial composition were observed at the taxonomic level. Proteobacteria (42.29-79.23â¯%) were the most abundant phyla in the studied soils. Gammaproteobacteria (52.49 and 66.61â¯%) had higher abundance in the MS and HS soils at the class level; Methylophaga and Pseudomonas were the predominant bacteria in the HS soil; and Azotobacter and Methylobacillus were abundant in the MS soil. Most genera belonging to Proteobacteria and Actinobacteria were detected via a linear discriminate analysis (LDA) effect size (LEfSe) analysis, which indicated that microbes with the ability to degrade organic matter and accomplish nutrient cycling can be well-adapted to salt conditions. Further analyses (redundancy analysis and Mantel test) showed that the microbial communities were mainly related to the soil salinity, electrical conductivity (EC1:5), total phosphorus (TP) and ammonia nitrogen (NH4+-N). Overall, the findings of the study can provide insights for better understanding the dominant indigenous microbes and their roles in biochemical cycles in different saline soils in the Qaidam Basin, Qinghai Province, China. The researches related to microbial community under typical poplar species should further clarify the mechanism of plant-microbial interaction and benefit for microbial utilization in salt soil remediation.
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Populus , Salinidad , Microbiología del Suelo , Suelo , China , Populus/microbiología , Suelo/química , Microbiota , ARN Ribosómico 16S/genética , Bacterias/clasificación , Bacterias/genética , EcosistemaRESUMEN
Despite over 30 years of microbiome and skeletal muscle research, no quantitative analysis of sarcopenia and the microbiome literature had been conducted. Our bibliometric study examined research status, hotspots, and future trends. We utilized bibliometric techniques to search the Science Citation Index Extended Database on February 27, 2023, using the Bibliometrix package in R to create a map displaying scientific production and subject categories. Collaborative network maps between countries/regions were visualized using Scimago Graphica, while VOSviewer explored collaboration modes among individuals and institutions. We analyzed the top 25 emerging keywords, top co-occurring keyword networks, and co-occurring keyword clusters using CiteSpace. A total of 997 articles were retrieved for sarcopenia and microbiome, of which 633 papers were analyzed. Both the number of publications and total citation frequency had been continuously increasing. The United States had the highest total citation frequency, while China had the highest number of publications. Research on the impact of the microbiome on sarcopenia was in its nascent stage and spans multiple disciplines, including nutrition, microbiology, geriatrics, immunology, endocrinology and metabolism, molecular biology, and sports medicine. The University of Copenhagen contributed the most to the number of publications (n=16), with Tibbett M (n=7) and Hulver MW (n=7) among the top authors. The most published journal was "Nutrients" (n=24). Analysis of keywords and clusters revealed new research hotspots in microbes and sarcopenia, such as malnutrition, dietary fiber, signaling pathways, frailty, and intestinal permeability. Research on the impact of the microbiome on sarcopenia is in its infancy and spans multiple disciplines. Malnutrition, dietary fiber, signaling pathways, frailty, and intestinal microbes are currently research hotspots. Furthermore, the visual atlas analysis of research on microbes and sarcopenia helps to track the knowledge structure in research fields related to sarcopenia and microbes, providing direction for future research.
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OBJECTIVES: The ESPEN and the EASO recently developed consensus criteria for sarcopenic obesity (SO), employing the skeletal muscle mass to weight (SMM/W) ratio. Emerging evidence suggests that adjusting skeletal muscle mass for body mass index (SMM/BMI) could enhance the predictive accuracy for health outcomes. We aimed to validate the ESPEN/EASO criteria and explore the potential benefits of the SMM/BMI adjustment in predicting falls among older adults in Western China. METHODS: We conducted a multicenter, cross-sectional study and included community-dwelling older adults. The diagnosis of SO was determined using the standard ESPEN/EASO consensus criteria (SOESPEN) and a modified version adjusting SMM/BMI (SOESPEN-M). The associations of SOESPEN, SOESPEN-M, and their components with falls were analyzed. RESULTS: Among the 1353 participants, the prevalence of SO was 13.2 % (SOESPEN) and 11.4 % (SOESPEN-M), which increased with age and higher BMI levels. Within participants with a normal BMI, 4.2 % and 6.2 % were found to have SOESPEN and SOESPEN-M, respectively. SMM/W and SMM/BMI negatively correlated with fall risk (p=0.042 and p=0.021, respectively). Upon adjusting for confounders, only SOESPEN was significantly associated with falls (odds ratios [OR] 1.61, 95 % confidence interval [CI] 1.08 to 2.40), whereas the association for SOESPEN-M did not achieve significance (OR 1.55, 95 % CI 0.99 to 2.43). CONCLUSIONS: This research validated the ESPEN/EASO criteria (SOESPEN) and their modified version (SOESPEN-M) among community-dwelling older adults in Western China. The SMM/BMI adjustment appears to offer a lower estimate of SO prevalence, with only SOESPEN showing a significant association with falls.
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Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , Tomografía Computarizada por Rayos X , Humanos , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico por imagen , Carcinoma de Pulmón de Células no Pequeñas/complicaciones , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/complicacionesRESUMEN
BACKGROUND: Sarcopenic obesity (SO) in nursing home residents is rarely studied. We aimed to evaluate and compare the prevalence and consistency of different SO diagnostic methods and to investigate which criterion demonstrated a stronger association with instrumental activities of daily living (IADL) disability. METHODS: We consecutively recruited older adults aged ≥ 60 years, residing in 15 nursing homes in Zigong City, China. Sarcopenia obesity was defined according to the European Society for Clinical Nutrition and Metabolism (ESPEN) and the European Association for the Study of Obesity criteria (SOESPEN), recommending skeletal muscle mass (SMM) adjusted by body weight (SMM/W) to identify low muscle mass. Further, we adapted ESPEN criteria (SOESPEN-M) by employing SMM adjusted by body mass index (SMM/BMI). RESULTS: We included 832 participants (median age 73.0 years, 296 women). The prevalence of SOESPEN and SOESPEN-M was 43.5% and 45.3%, respectively. SOESPEN showed good consistency with SOESPEN-M (Cohen's kappa = 0.759). More than one-third of participants in the normal weight group were diagnosed with SOESPEN or SOESPEN-M. Even within the underweight group, the prevalence of SOESPEN and SOESPEN-M was 8.9% and 22.2%, respectively. Participants with IADL disability had significantly lower SMM/W and SMM/BMI, but higher fat mass percentage of body weight (FM%) than participants without IADL disability. After full adjustment for potential confounders, SOESPEN-M (OR 1.68, 95% CI 1.21 to 2.32), but not SOESPEN (OR 1.28, 95% CI 0.93 to 1.75), remained significantly associated with IADL disability. CONCLUSIONS: Both SOESPEN and SOESPEN-M showed a high prevalence among nursing home residents, even among individuals with underweight or normal weight. While SOESPEN had a good consistency with SOESPEN-M, only SOESPEN-M was independently associated with IADL disability. Screening and diagnosis of SO should be conducted in nursing home residents irrespective of BMI.
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Actividades Cotidianas , Casas de Salud , Obesidad , Sarcopenia , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Masa Corporal , China/epidemiología , Estudios Transversales , Evaluación Geriátrica/métodos , Obesidad/epidemiología , Obesidad/diagnóstico , Prevalencia , Sarcopenia/epidemiología , Sarcopenia/diagnósticoRESUMEN
Background: Sarcopenic obesity (SO) is a condition characterized by the coexistence of sarcopenia (loss of muscle mass and function) and obesity. This condition has emerged as a public health concern, particularly with the aging population. Despite an approximately 30-year history of SO research, detailed quantitative analysis of existing research was never undertaken. We aimed to depict the landscape of SO research using bibliometric analysis of literature. Methods: We searched the Web of Science Core Collection on January 15, 2023. The following bibliometric indicators were included: publication trend, the most influential country, the most active discipline, productive institutions, productive journals, prolific and highly cited authors, and highly cited publications. We constructed co-authorship network to explore individual-level, institutional-level, and international-level collaborative patterns in the VOSviewer or Sci2 software. Furthermore, keywords co-occurrence network was extracted by the VOSviewer software, and the burst-detection analysis of keywords was performed using the CiteSpace software. Results: A total of 2023 original articles were retrieved for data analysis. The publications increased dramatically in the last decade. The United States had the highest number of publications on SO (n = 904). The Seoul National University Hospital was the most prolific institution (n = 54) among the 2675 institutions analyzed. As for journals, Clinical Nutrition had the highest number of publications on SO (n = 75). Kim JH was the most prolific author (n = 25), while Cederholm T authored the most cited publication (9381 citations). More than 80 disciplines were involved in SO research, of which, "Geriatrics and Gerontology" was the most activated discipline. The European Working Group on Sarcopenia in Older People (EWGSOP) consensus was the most cited publication (7209 citations). Moreover, the hotspots of SO have been shifting from its biology, prevalence, and risk factors to its outcomes, prognostic factors, complications, and quality of life. Its relationships also evolved from being between SO and aging to being between SO and other diseases. Conclusions: Our study provided a comprehensive landscape of SO research, which may help researchers better identify key information and research trends in this field.
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Bioreduction of soluble U(VI) to sparingly soluble U(IV) is proposed as an effective approach to remediating uranium contamination. However, the stability of biogenic U(IV) in natural environments remains unclear. We conducted U(IV) reoxidation experiments following U(VI) bioreduction in the presence of ubiquitous clay minerals and organic ligands. Bioreduced Fe-rich nontronite (rNAu-2) and Fe-poor montmorillonite (rSWy-2) enhanced U(IV) oxidation through shuttling electrons between oxygen and U(IV). Ethylenediaminetetraacetic acid (EDTA), citrate, and siderophore desferrioxamine B (DFOB) promoted U(IV) oxidation via complexation with U(IV). In the presence of both rNAu-2 and EDTA, the rate of U(IV) oxidation was between those in the presence of rNAu-2 and EDTA, due to a clay/ligand-induced change of U(IV) speciation. However, the rate of U(IV) oxidation in other combinations of reduced clay and ligands was higher than their individual ones because both promoted U(IV) oxidation. Unexpectedly, the copresence of rNAu-2/rSWy-2 and DFOB inhibited U(IV) oxidation, possibly due to (1) blockage of the electron transport pathway by DFOB, (2) inability of DFOB-complexed Fe(III) to oxidize U(IV), and (3) stability of the U(IV)-DFOB complex in the clay interlayers. These findings provide novel insights into the stability of U(IV) in the environment and have important implications for the remediation of uranium contamination.
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Compuestos Férricos , Uranio , Arcilla , Ligandos , Ácido Edético , Minerales , Oxidación-ReducciónRESUMEN
Non-uniform environmental conditioning has established substantial energy-saving and conditioning effects in residential buildings, however, few studies on the technology applied in greenhouses have been conducted. Semi-enclosed greenhouse development is hindered by energy consumption. To better apply non-uniform environmental conditioning technology in greenhouses, it is necessary to investigate the non-uniform characteristics of field environment parameters. Therefore, spatial and temporal measurements of indoor temperature and relative humidity in a Venlo-type greenhouse in Yangling, China, were conducted on June 5-11, 2022. Temperature and humidity sensors were arranged in the greenhouse at 4.5 m intervals, in the canopy, cultivation, center, and root areas. Temperature and humidity measurement points on the greenhouse walls were selected. The measurement results showed large fluctuations in the indoor temperature and relative humidity over time. The difference between indoor and outdoor average temperatures ranged from -5-10 °C and temperatures unsuitable for tomato growth were identified, although some passive conditioning methods such as ventilation and water spraying were employed, which indicates the necessity of active heating and cooling. Based on the measured data, the nonuniformity coefficients of temperature and relative humidity in different directions in the greenhouse were calculated. A larger non-uniformity in the vertical direction was found compared to that in the horizontal direction. These results suggest the possibility of non-uniform environmental conditioning. A rough estimation of the energy consumption by the two different condition modes, namely zone-specific and overall conditioning, was made. A huge energy saving of 69.6 % by the zone-specific conditioning mode was revealed compared to the overall conditioning. This implies a huge advantage in energy efficiency by non-unform environmental conditioning technologies applied in greenhouses. The study provides useful data for understanding non-uniform environments in greenhouses and the application of non-uniform environmental conditioning technologies.
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Inkless and erasable printing (IEP) based on chromic materials holds great promise to alleviate environmental and sustainable problems. Metal-organic polymers (MOPs) are bright platforms for constructing IEP materials. However, it is still challenging to design target MOPs with excellent specific functions rationally due to the intricate component-structure-property relationships. Herein, an effective strategy was proposed for the rational design IEP-MOP materials. The stimuli-responsive viologen moiety was introduced into the construction of MOPs to give it potential chromic behaviors and two different coordination models (i. e. bilateral coordination model, M1 ; unilateral coordinated model, M2 ) based on the same viologen ligand were designed. Aided by theoretical calculations, model M1 was recommended secondarily as a more suitable system for IEP materials. Along this line, two representative viologen-ZnII MOPs 1 and 2 with models M1 and M2 were synthesized successfully. Experiments exhibit that 1 does have quicker stimuli response, stronger color contrast and longer radical lifetime compared to 2. Significantly, the obtained 1-IEP media brightly inherits the excellent chromic characteristics of 1 and the flexibility of the paper at the same time, which achieves most daily printing requirements, as well as enough resolution and durability to be used in identification by smart device.
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BACKGROUND: Pontocerebellar hypoplasia type 7(PCH7)is a neurodegenerative disease related to autosomal recessive variants in the target of EGR1 (TOE1)gene. Biallelic mutation in the TOE1 gene causes global developmental delay, cognitive and psychomotor impairment, hypotonia, breathing abnormalities, and gonadal abnormalities. This study examined the clinical and genetic features of a 2-year-old patient carrying novel compound heterozygous variants in the TOE1 gene, mutations of previously reported 14 PCH7 patients were reviewed. METHODS: Clinical data of the 2-year-old patient were captured. Trio- whole exome sequencing (Trio-WES) was performed to identify pathogenic variants. Sanger sequencing was further used to verify the variants. In silico analysis was performed to explain the pathogenicity. RESULTS: Herein, we described the clinical features of the 2-year-old patient diagnosed with PCH7 caused by mutations in the TOE1gene. The kid was presenting with global development delay and gonadal abnormalities. Brain imaging revealed hypoplasia of the cerebellum and pons with ambiguous genitalia. Trio-WES revealed novel compound heterozygous missense variants in TOE1gene (c.911C > T p.S304L, c.161C > T p.A54V). Multiple in silico tools predicted the deleterious effects of the mutations. CONCLUSION: The novel compound heterozygous missense mutation in the TOE1 gene identified in the proband broadened the genotypic and phenotypic spectrum of disorders associated with PCH7. Our findings provide critical information for the differential diagnosis of rare neurodevelopment disorders and genetic counselling.
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Enfermedades Cerebelosas , Enfermedades Neurodegenerativas , Humanos , Preescolar , Mutación Missense , Mutación , Enfermedades Cerebelosas/genética , Proteínas Nucleares/genéticaRESUMEN
Uranium mining and nuclear fuel production have led to significant U contamination. Past studies have focused on the bioreduction of soluble U(VI) to insoluble U(IV) as a remediation method. However, U(IV) is susceptible to reoxidation and remobilization when conditions change. Here, we demonstrate that a combination of adsorption and bioreduction of U(VI) in the presence of an organic ligand (siderophore desferrioxamine B, DFOB) and the Fe-rich clay mineral nontronite partially alleviated this problem. DFOB greatly facilitated U(VI) adsorption into the interlayer of nontronite as a stable U(VI)-DFOB complex. This complex was likely reduced by bioreduction intermediates such as the Fe(II)-DFOB complex and/or through electron transfer within a ternary Fe(II)-DFOB-U(VI) complex. Bioreduction with DFOB alone resulted in a mobile aqueous U(IV)-DFOB complex, but in the presence of both DFOB and nontronite U(IV) was sequestered into a solid. These results provide novel insights into the mechanisms of U(VI) bioreduction and the stability of U and have important implications for understanding U biogeochemistry in the environment and for developing a sustainable U remediation approach.
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Sideróforos , Uranio , Adsorción , Arcilla , Compuestos Férricos , Compuestos Ferrosos , Hierro , Minerales , Oxidación-ReducciónRESUMEN
OBJECTIVE: To observe the effects of drug-containing serum of Xijiao Dihuang combined prescription(XJDH) on the related functions of dendritic cells(DCs) induced in vitro, and to explore the mechanisms underlying the effectiveness of XJDH treatment on primary immune thrombocytopenia(ITP). METHODS: Peripheral blood samples were colle-ted from 6 healthy volunteers. Mononuclear cells were isolated by density gradient centrifugation, and CD14+ mononuclear cells were collected by the magnetic separation technique. CD14+ mononuclear cells were induced into immature DCs by recombinant human granulocyte-macrophage colony stimulating factor (GM-CSF) and recombinant human interleukin 4 (IL-4). Immature DCs were divided into three groups: control group, model group and XJDH group. CCK-8 assay was used to determine the intervention concentration and time of drug-containing serum. Lipopolysaccharide(LPS) with the final concentration of 1 µg/ml was added to model group and XJDH group respectively for 24 h to induce DCs maturation. Normal rat serum was added to control group and model group, and XJDH was added to XJDH group for 24 h. Flow cytometry was used to detect the levels of CD80, CD83 and HLA-DR on the surface of DCs. Western blot was used to detect the expression of TLR4 and NF-κB, and levels of IL-6, IL-12 and TNF-α in cell supernatant was detected by ELISA. RESULTS: Compared with the control group, LPS stimulation increased the expression of CD80, CD83 and HLA-DR, with subsequent increasing expression of TLR4 and NF-κB, as well as IL-6, IL-12 and TNF-α increased(P<0.05). In comparison with model group, the expression of DCs surface molecules CD80, CD83 and HLA-DR, DCs' expression of TLR4 and NF-κB protein, and the levels of IL-6, IL-12 and TNF-α in the cell supernatant of XJDH group decreased after the intervention of XJDH (P<0.05). CONCLUSION: Drug containing serum of Xijiao Dihuang combined prescription can down-regulate TLR4/NF-κB signaling pathway related protein expression, inhibit DCs maturation, and reduce proinflammatory factor secretion, which may be one of the mechanisms of drug-containing serum of Xijiao Dihuang combined prescription in the treatment of immune thrombocytopenia.
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Lipopolisacáridos , Púrpura Trombocitopénica Idiopática , Animales , Antígeno B7-1/farmacología , Diferenciación Celular , Células Dendríticas , Antígenos HLA-DR/farmacología , Humanos , Interleucina-12/metabolismo , Interleucina-12/farmacología , Interleucina-6 , Lipopolisacáridos/farmacología , Medicina Tradicional China , FN-kappa B , Prescripciones , Ratas , Receptor Toll-Like 4 , Factor de Necrosis Tumoral alfa/farmacologíaRESUMEN
Phthalate esters (PAEs) are ubiquitous in indoor environments as plasticizers in indoor products. Residences are often exposed to indoor PAEs in the form of gas, particles, settled dust, and surface phases. To reveal the mechanism behind the accumulation of PAEs in different tissues or organs such as the liver and the lungs when a person exposed to indoor PAEs with different phases, a whole-body physiologically based pharmacokinetic model for PAEs is employed to characterize the dynamic process of phthalates by different intake pathways, including oral digestion, dermal adsorption, and inhalation. Among three different intake pathways, dermal penetration distributed the greatest accumulation of DEHP in most of the organs, while the accumulative concentration through oral ingestion was an order of magnitude lower than the other two doses. Based on the estimated parameters, the variation of di-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP) concentration in the venous blood, urine, the liver, the thymus, the pancreas, the spleen, the lungs, the brain, the heart, and the kidney for different intake scenarios was simulated. The simulated results showed a different accumulation profile of DEHP and MEHP in different organs and tissues and demonstrated that the different intake pathways will result in different accumulation distributions of DEHP and MEHP in organs and tissues and may lead to different detrimental health outcomes.
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Dietilhexil Ftalato , Ácidos Ftálicos , Dietilhexil Ftalato/metabolismo , Polvo , Ésteres/análisis , Cuerpo Humano , Humanos , Ácidos Ftálicos/análisisRESUMEN
In order to improve the wear resistance of offshore drilling equipment, CoCrFeNiMn high-entropy alloy coatings were prepared by cold spraying (CS) and high-speed oxygen fuel spraying (HVOF), and the coatings were subjected to vacuum heat treatment at different temperatures (500 °C, 700 °C and 900 °C). The friction and wear experiments of the coatings before and after vacuum heat treatment were carried out in simulated seawater drilling fluid. The results show that CoCrFeNiMn high-entropy alloy coatings prepared by CS and HVOF have dense structure and bond well with the substrate. After vacuum heat treatment, the main peaks of all oriented FCC phases are broadened and the peak strength is obviously enhanced. The two types of coatings achieve maximum hardness after vacuum heat treatment at 500 °C; the Vickers microhardness of CS-500 °C and HVOF-500 °C are 487.6 and 352.4 HV0.1, respectively. The wear rates of the two coatings at room temperature are very close. CS and HVOF coatings both have the lowest wear rate after vacuum heat treatment at 500 °C. The CS-500 °C coating has the lowest wear rate of 0.2152 mm3 m-1 N-1, about 4/5 (0.2651 mm3 m-1 N-1) of the HVOF-500 °C coating. The wear rates and wear amounts of the two coatings heat-treated at 700 °C and 900 °C decrease due to the decrease in microhardness. The wear mechanisms of the coatings before and after vacuum heat treatment are adhesive wear, abrasive wear, fatigue wear and oxidation wear.
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At present, lung cancer ranks the first cause of tumor death in the world, and malignant tumors in the SPN detected by imaging account for 5-40%, most of which are peripheral lung cancer. The recovery of the solitary nodules in the lung after treatment has also been paid attention to. In order to explore the correlation of solitary pulmonary nodule (SPN) with microvessel density (MVD), vascular parameters, and vascular ratio under virtual reality images of smart medical treatment and evaluate the differentiation of SPN by ddPCR under virtual reality image observation diagnosis value, this article collects relevant information by investigating patients, investigating relevant literature, interviewing professionals, and constructing a case template, using a comprehensive quantitative and qualitative analysis method to create a damage assessment matrix. Experimental results prove that there are significant differences in the microvascular architecture within the SPN in the benign, inflammatory, and malignant groups. The correlation between ddPCR and vascular parameters (especially the ratio of luminal vessels) under the virtual reality image observation of smart medical treatment is better than other detection methods, and its accuracy is about 10% higher. Based on the observation of smart medical virtual reality images, ddPCR can be used as an index for noninvasive evaluation of tumor angiogenesis, which is helpful for the differential diagnosis of SPN.
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Neoplasias Pulmonares , Nódulo Pulmonar Solitario , Realidad Virtual , Humanos , Pulmón/patología , Neoplasias Pulmonares/diagnóstico por imagen , Neovascularización Patológica/diagnóstico por imagen , Neovascularización Patológica/patología , Nódulo Pulmonar Solitario/diagnóstico por imagenRESUMEN
BACKGROUND: Asparagine synthetase deficiency (ASNSD) is a rare pediatric congenital disorder that clinically manifests into severe progressive microcephaly, global developmental delay, spastic quadriplegia, and refractory seizures. ASNSD is caused by inheritable autosomal recessive mutations in the asparagine synthetase (ASNS) gene. METHODS: We performed whole-exome sequencing using the patient's peripheral blood, and newly discovered mutations were subsequently verified in the patient's parents via Sanger sequencing. Software-based bioinformatics analyses (protein sequence conservation analysis, prediction of protein phosphorylation sites, protein structure modeling, and protein stability prediction) were performed to investigate and deduce their downstream effects. RESULTS: In this article, we summarized all the previously reported cases of ASNSD and that of a Chinese girl who was clinically diagnosed with ASNSD, which was later confirmed via genetic testing. Whole-exome sequencing revealed two compound heterozygous missense mutations within the ASNS (c.368T > C, p.F123S and c.1649G > A, p.R550H). The origin of the two mutations was also verified in the patient's parents via Sanger sequencing. The mutation c.368T > C (p.F123S) was discovered and confirmed to be novel and previously unreported. Using software-based bioinformatics analyses, we deduced that the two mutation sites are highly conserved across a wide range of species, with the ability to alter different phosphorylation sites and destabilize the ASNS protein structure. The newly identified p.F123S mutation was predicted to be the most significantly destabilizing and detrimental mutation to the ASNS protein structure, compared to all other previously reported mutations. CONCLUSION: Evidently, the presence of these compound heterozygous mutations could lead to severe clinical phenotypes and serve as a potential indicator for considerably higher risk with less optimistic prognosis in ASNSD patients.
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Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N/genética , Discapacidades del Desarrollo/genética , Microcefalia/genética , Mutación Missense , Convulsiones/genética , Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N/química , Discapacidades del Desarrollo/patología , Estabilidad de Enzimas , Femenino , Heterocigoto , Humanos , Lactante , Masculino , Microcefalia/patología , Dominios Proteicos , Convulsiones/patología , SíndromeRESUMEN
Lithium batteries are widely used in portable electronic products. Although the performance of the batteries has been greatly improved in the past few decades, limited understanding of the working mechanisms at an atomic scale has become a major factor for further improvement. In the past 10 years, a reaction force field (ReaxFF) has been developed within the molecular dynamics framework. The ReaxFF has been demonstrated to correctly describe both physical processes and chemical reactions for a system significantly larger than the one simulated by quantum chemistry, and therefore in turn has been broadly applied in lithium batteries. In this article, we review the ReaxFF studies on the sulfur cathode, various anodes, and electrolytes of lithium batteries and put particular focus on the ability of the ReaxFF to reveal atomic-scale working mechanisms. A brief prospect is also given.
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Recently, Goji berry (Lycium barbarum L.) has been extensively cultivated to improve the fragile ecological environment and increase the income of residents in Qinghai Province, northwestern China. However, few studies have focused on the physiological responses of Goji berry under salt stress and alkali stress. Gas exchange, photosynthetic pigments, and chlorophyll fluorescence were evaluated in response to neutral (NaCl) and alkali (NaHCO3) salt stresses. Nine irrigation treatments were applied over 30 days and included 0(Control group), 50, 100, 200, and 300 mM NaCl and NaHCO3. The results showed that salt and alkali stress reduced all the indicators and that alkali stress was more harmful to Goji berry than salt stress under the same solution concentrations. The salt tolerance and alkali resistance thresholds were identified when the index value exceeded the 50% standard of the control group, and threshold values of 246.3 ± 2.9 mM and 108.4.7 ± 2.1 mM, respectively, were determined by regression analysis. These results were used to identify the optimal water content for Goji berry. The minimum soil water content to cultivate Goji berry should be 16.22% and 23.37% under mild and moderate salt stress soils, respectively, and 29.10% and 42.68% under mild and moderate alkali stress soil, respectively.
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Álcalis , Lycium/fisiología , Salinidad , Tolerancia a la Sal , Suelo/química , Adaptación Biológica , China , Clorofila/química , Lycium/crecimiento & desarrollo , Pigmentos Biológicos , Estrés SalinoRESUMEN
In recent years, many studies have focused on the changes of partial or single African ecosystems and the drivers of those changes. However, focusing only on partial or single ecosystems has limited the understanding of the relationships between the vegetation and climate changes in all of the African ecosystems. In this study, the temporal trends of the satellite-derived annual mean leaf area index (GLASS-LAI) were analyzed, and the inter-annual relationships were developed between the annual mean LAI and the climate variables (precipitation and temperature) for the time period ranging from 1982 to 2013. Additionally, this study applied seasonal curves and step-wise multiple regression methods to investigate the relationships between intra-annual LAI and climate changes. It was found that the GLASS-LAI over half of Africa had shown general significant greening or browning trends during the period from 1982 to 2013. From the results of inter-annual analysis, with mean annual precipitation lower than 600 mm, the greening of the savannas and grasslands in the Sahel was found to highly correspond with the increased precipitation. In contrast, the evergreen broadleaf forests in the Gulf of Guinea and Congo Basin showed strongly positive responses to the annual temperature when the mean annual temperature was below 25 °C. In regard to the intra-annual responses, the precipitation with 1-month lags was found to be helpful for the vegetation growth, with the exception of the evergreen broadleaf. The results of this research study indicated that the different land-covers in Africa had displayed clear differences in their annual trends during the examined 32-year period and had responded differently to the inter- and intra-annual climate drivers. This difference was evident by the characteristics of the vegetation covers and the geographic distributions. Therefore, further examinations of these differences can potentially improve the understanding of the land surface-atmosphere interactions among the different African ecosystems.
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Cambio Climático , Ecosistema , África , Hojas de la Planta , TemperaturaRESUMEN
BACKGROUND: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. CASE PRESENTATION: Here we report two Chinese boys with clinical features of KS referred to our hospital for clinical diagnosis. Next-generation sequencing was performed on MiSeq to analyze the genetic mutations in both patients. In both, two novel de novo mutations in KMT2D gene (c.5235delA, p.(A1746Lfs*39) and c.7048G > A, p.(Q2350*)) were detected, both of which were subsequently confirmed by the two-generation pedigree analysis based on Sanger sequencing. A systematic literature review of previously reported mutational spectrum of KMT2D was also conducted. CONCLUSIONS: Two novel de novo mutations in KMT2D gene were identified and considered to be pathogenic in both of KS patients. Our data adds information to the growing knowledge on the mutational spectrum of KS.