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1.
J Hazard Mater ; 421: 126802, 2022 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-34396977

RESUMO

The coexistence of hazardous substances enhances their toxicities to plants, but its mechanism is still unclear due to the unknown cytochemical behavior of hazardous substance in plants. In this study, by using interdisciplinary methods, we observed the cytochemical behavior of coexisting hazardous substances {terbium [Tb(III)], benzo(a)pyrene (BaP) and cadmium [Cd(II)] in environments} in plants and thus identified a new mechanism by which coexisting hazardous substances in environments enhance their toxicities to plants. First, Tb(III) at environmental exposure level (1.70 × 10-10 g/L) breaks the inert rule of clathrin-mediated endocytosis (CME) in leaf cells. Specifically, Tb(III) binds to its receptor [FASCICLIN-like arabinogalactan protein 17 (FLA17)] on the plasma membrane of leaf cells and then docks to an intracellular adaptor protein [adaptor protein 2 (AP2)] to form ternary complex [Tb(III)-FLA17-AP2], which finally initiates CME pathway in leaf cells. Second, coexisting Tb(III), BaP and Cd(II) in environments are simultaneously transported into leaf cells via Tb(III)-initiated CME pathway, leading to the accumulation of them in leaf cells. Finally, these accumulated hazardous substances simultaneously poison plant leaf cells. These results provide theoretical and experimental bases for elucidating the mechanisms of hazardous substances in environments poisoning plants, evaluating their risks, and protecting ecosystems.


Assuntos
Clatrina , Substâncias Perigosas , Ecossistema , Endocitose , Substâncias Perigosas/toxicidade , Plantas
2.
Animals (Basel) ; 11(11)2021 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-34827968

RESUMO

Natural, non-toxic feed additives can potentially replace chemical medications and antibiotics that are offered sheep to improve performance. In the present study, Tibetan sheep were supplemented with the root of Astragalus membranaceus (AMT), a traditional herb used widely in China. Twenty-four male Tibetan sheep (31 ± 1.4 kg; 9-month-old) were assigned randomly to one of four levels of supplementary AMT: 0 g/kg (A0), 20 g/kg (A20), 50 g/kg (A50) and 80 g/kg (A80) dry matter intake (DMI). The A50 and A80 groups increased the diversity of rumen bacteria on d 14 and the relative abundances of fiber decomposing bacteria. Supplementary AMT upregulated the metabolism of vitamins, nucleotides, amino acids and glycan, and downregulated the metabolism of lipids and carbohydrates. In addition, supplementary AMT enriched rumen bacteria for drug resistance, and reduced bacteria incurring cell motility. In general, AMT supplementation increased the concentrations of catalase (CAT), superoxide dismutase (SOD) total antioxidant capacity (T-AOC) and secretory immunoglobulin A (sIgA) in the small intestinal mucosa and CAT and SOD in meat tissue. The liver tissue metabolome response showed that AMT in the A80 lambs compared to the A0 lambs upregulated the metabolites for energy synthesis. It was concluded that supplementary A. membranaceus increased the relative abundances of fiber decomposing bacteria and improved the antioxidant capacities and immunity indices of small intestinal mucosa and meat tissue in Tibetan sheep.

3.
Foods ; 10(11)2021 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-34829057

RESUMO

Differences in cooked rice and starch and protein physicochemical properties of three japonica rice were compared systematically. Cultivars of japonica rice, Daohuaxiang2, from Northeast China (NR) and two semiglutinous japonica rice (SGJR), Nangeng46 and Nangeng2728, from the Yangtze River Delta (YRD) were investigated. Both Daohuaxiang2 and Nangeng46 achieved high taste values, but there were great differences in starch and protein physicochemical properties. Daohuaxiang2 showed higher apparent amylose content (AAC), lower protein content (PC), and longer amylopectin (especially fb2 and fb3) and amylose chain lengths, resulting in thicker starch lamellae and larger starch granule size. Its cooked rice absorbed more water and expanded to larger sizes. All of these differences created a more compact gel network and harder but more elastic cooked rice for Daohuaxiang2. Nangeng46 produced a lower AAC, a higher PC, shorter amylopectin and amylose chain lengths, thinner starch lamellae, and smaller starch granule sizes, creating a looser gel network and softer cooked rice. The two SGJR, Nangeng46 and Nangeng2728, had similar low AACs but great differences in taste values. The better-tasting Nangeng46 had a lower PC (especially glutelin content) and higher proportion of amylopectin fa chains, which likely reduced the hardness, improved the appearance, and increased the adhesiveness of its cooked rice. Overall, both types of japonica rice from the NR and YRD could potentially have good eating qualities where Nangeng46's cooked rice was comparable to that of Daohuaxiang2 because of its lower AC. Moreover, its lower PC and higher proportion of amylopectin fa chains likely improved its eating quality over the inferior-tasting SGJR, Nangeng2728. This research lays a foundation for the improvement of the taste of japonica rice in rice breeding.

4.
J Food Sci ; 2021 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-34755905

RESUMO

Semi-waxy rice, a low-amylose content (8%-13%) rice variety, can resist retrogradation. It is becoming more and more popular and widely cultivated in East China where consumers prefer cooked rice with soft and tender texture. In this study, water migration, texture and oral processing properties of cooked rice during retrogradation were investigated in order to characterize semi-waxy rice. The results confirmed that the water mobility and migration of semi-waxy rice during retrogradation is weaker than that of waxy rice and stronger than that of nonwaxy rice. Simultaneously, the hardness of semi-waxy rice was higher than that of waxy rice and lower than that of nonwaxy rice. The oral processing properties confirmed that freshly waxy rice was too adhesive and needed more work to breakdown slow breakdown structure (Type Ⅱ structure) compared to freshly semi-waxy rice. Meanwhile, nonwaxy rice was too hard, and more work was needed to break both fast breakdown structure (Type I structure) and slow breakdown structure (Type Ⅱ structure). The oral processing properties confirmed that retrograded semi-waxy rice generated more reducing sugar than retrograded waxy rice and nonwaxy rice. Thus, semi-waxy rice can retard retrogradation, and the texture of cooked semi-waxy rice is neither too adhesive as waxy rice nor too hard as nonwaxy rice. PRACTICAL APPLICATION: Semi-waxy rice cultivars have been widely cultivated in East China and well accepted by the consumers. This study aims to characterize semi-waxy rice and provide theoretical basis for semi-waxy rice study.

5.
Mol Genet Genomic Med ; 9(11): e1822, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34668645

RESUMO

BACKGROUND: To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. METHODS: This was a retrospective study of patients diagnosed with mut-type MMA. All patients with mut-type MMA were tested for responsiveness to vitamin B12. RESULTS: There were 81, 27, and 158 patients in the completely responsive, partially responsive, and nonresponsive groups, respectively, and the proportions of symptom occurrence were 30/81 (37.0%), 21/27 (77.8%), and 131/158 (82.9%), respectively (p < .001). The median levels of posttreatment propionyl carnitine (C3), C3/acetyl carnitine (C2) ratio in the blood, and methylmalonic acid in the urine were all lower than pretreatment, and the median level of C3/C2 ratio in the completely responsive group was within the normal range. In 266 patients, 144 different mutations in the MMUT gene were identified. Patients with the mutations of c.1663G>A, c.2080C>T, c.1880A>G, c.1208G>A, etc. were completely responsive and with the mutations of c.1741C>T, c.1630_1631GG>TA, c.599T>C, etc. were partially responsive. The proportions of healthy/developmental delay outcomes in the three groups were 63.0%/23.5%, 33.3%/40.7%, and 13.3%/60.1%, respectively (p < .001). CONCLUSION: Different mutations in the MMUT gene are associated with the effect of vitamin B12 treatment.

6.
J Infect Dis ; 2021 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-34626109

RESUMO

Many characteristics associated with Ebola virus disease remain to be fully understood. It is known that direct contact with infected bodily fluids is an associated risk factor, but few studies have investigated parameters associated with transmission between individuals, such as the dose of virus required to facilitate spread and route of infection. Therefore, we sought to characterize the impact by route of infection, viremia, and viral shedding through various mucosae, with regards to intraspecies transmission of Ebola virus in a non-human primate model. Here, challenge via the esophagus or aerosol to the face did not result in clinical disease, although seroconversion of both challenged and contact animals was observed in the latter. Subsequent intramuscular or intratracheal challenges suggest that viral loads determine transmission likelihood to naïve animals in an intramuscular-challenge model, which is greatly facilitated in an intratracheal-challenge model where transmission from challenged to direct contact animal was observed consistently.

7.
JAMA Netw Open ; 4(10): e2131040, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34698846

RESUMO

Importance: Obesity is a public health challenge in China, but the geographical profiles of overweight and obesity among Chinese children are limited. Objective: To examine regional disparities in the prevalence of obesity among the heterogeneous population of Chinese children and adolescents to provide a more accurate profile of obesity among children in China. Design, Setting, and Participants: The Prevalence and Risk Factors for Obesity and Diabetes in Youth (PRODY) study was a cross-sectional survey study conducted from January 1, 2017, to December 31, 2019, among 201 098 children aged 3 to 18 years from 11 provinces, autonomous regions, and municipalities that produced a sample of Chinese children with a full range of ages and wide geographical coverage using a multistage, stratified, cluster-sampling design. Exposures: Five regions geographically representative of China (northern, eastern, southern, western, and central). Main Outcomes and Measures: The body weights and heights of all participants were measured. Multilevel, multinomial logistic regression models were used to estimate the prevalence of overweight and obesity. Results: Among 201 098 healthy children (105 875 boys [52.6%]; mean [SD] age, 9.8 [3.8] years) from eastern, southern, northern, central, and western China, the highest obesity prevalence was estimated for children aged 8 to 13 years in northern China (from 18.8% [95% CI, 16.2%-21.7%] to 23.6% [95% CI, 20.5%-26.9%]) and for boys aged 3 to 6 years in western China (from 18.1% [95% CI, 10.4%-29.4%] to 28.6% [95% CI, 14.3%-49.0%]). Boys had a higher prevalence than girls of obesity only in eastern and northern China, with a mean difference in prevalence of 4.6% (95% CI, 3.8%-5.4%) and 7.6% (95% CI, 6.5%-8.6%), respectively. Conclusions and Relevance: In this survey study, substantial geographic disparities in the prevalence of obesity and overweight were found among the heterogeneous population of Chinese children. The results suggest that special attention should be paid to vulnerable children and that regionally adapted interventions are needed to efficiently mitigate obesity in children.

8.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 50(4): 494-499, 2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34704418

RESUMO

: To analyze the clinical and genetic characteristics of children with Keishi-Bukuryo-Gan (KBG) syndrome. The clinical and genetic data of 5 children with KBG syndrome admitted in Children's Hospital Affiliated of Zhengzhou University from November 2018 to September 2020 were retrospectively analyzed. Five children were all males who came from four different families. All children presented triangular face, bushy eyebrows, thin upper lip, large or delayed closure of anterior fontanel, and abnormal bone development. Four cases had growth retardation, large ears, thick ear lips; 3 cases had large central incisors; 2 cases had congenital heart disease; 2 cases had abnormal skin changes; 2 cases had genital changes; and 2 cases became grumpy. Liver and kidney function,thyroid function, blood gas analysis and electrolyte of the children were all in the normal range. Three children received bone age examination, and all showed bone age lag. Two cases showed backward myelination of white matter in MRI. Whole exome sequencing revealed that all 5 children had heterozygous mutations in the gene, among which c.6836_6837delTG, c.5866C>T, and c.6270delT were newly discovered mutation sites. None of the parents of probands were found to carry the mutations in gene. Two cases achieved height catch-up and cognitive improvement after treatment with recombinant human growth hormone. KBG syndrome is characterized by a wide spectrum of phenotypes, and large or delayed closure of the anterior fontanel, large ears and thick ear lips may be the main manifestations of the disease in infants and young children. gene mostly presents spontaneous mutations, and early application of growth hormone therapy can achieve height catch-up and cognitive improvement without obvious adverse reactions.


Assuntos
Hormônio do Crescimento Humano , Pré-Escolar , Humanos , Masculino , Estudos Retrospectivos
9.
Toxicology ; 462: 152962, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34560123

RESUMO

Inorganic arsenic is widely present in the environment. Exposure to moderate to high concentrations of arsenic from drinking water or air can cause various cancers and multisystem dysfunction. Glucose-regulated protein 78 (GRP78) is an endoplasmic reticulum (ER) stress sensor of unfolded protein response (UPR) under stress conditions and it enhances cell survival. The aim of this study is to investigate molecular mechanisms of arsenic-induced GRP78 expression in BEAS-2B cells model. We found that GRP78 protein expression was enhanced, while the level of GRP78 mRNA expression did not change under arsenic trioxide (As2O3)-induced ER stress condition in BEAS-2B cells. Cycloheximide, a protein synthesis inhibitor, completely inhibited As2O3-induced GRP78 protein expression. GRP78 mRNA expression was inhibited by actinomycin-D (Act-D). However, GRP78 protein expression was upregulated in the presence of Act-D under As2O3-induced ER stress condition. These data indicated that the upregulation of GRP78 protein under As2O3-induced UPR condition was possibly due to the increased biosynthesis of GRP78 protein. Moreover, both inositol-requiring enzyme 1α (IRE1α) RNase and kinase inhibitor KIRA6 and IRE1α kinase inhibitor APY29 completely inhibited As2O3-induced GRP78 protein expression and phosphorylation of JNK, ERK and p38 MAPK. Activation of apoptotic signaling kinase 1 (ASK1) is a downstream effector of IRE1α kinase. ASK1 inhibitor selonsertib and p38 MAPK inhibitor SB203580 partially inhibited As2O3-induced GRP78 protein expression, respectively. Our results suggested that As2O3 enhanced GRP78 protein expression in BEAS-2B cells via IRE1α kinase/ASK1/p38 MAPK signaling pathway. To our knowledge, this is the first report on illuminating the related mechanisms of increased GRP78 protein expression in As2O3-induced ER stress condition through a novel IRE1α pathway.

10.
BMC Musculoskelet Disord ; 22(1): 801, 2021 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-34537022

RESUMO

INTRODUCTION: Diagnosing Kashin-Beck disease (KBD) involves damages to multiple joints and carries variable clinical symptoms, posing great challenge to the diagnosis of KBD for clinical practitioners. However, it is still unclear which clinical features of KBD are more informative for the diagnosis of Kashin-Beck disease among adolescent. METHODS: We first manually extracted 26 possible features including clinical manifestations, and pathological changes of X-ray images from 400 KBD and 400 non-KBD adolescents. With such features, we performed four classification methods, i.e., random forest algorithms (RFA), artificial neural networks (ANNs), support vector machines (SVMs) and linear regression (LR) with four feature selection methods, i.e., RFA, minimum redundancy maximum relevance (mRMR), support vector machine recursive feature elimination (SVM-RFE) and Relief. The performance of diagnosis of KBD with respect to different classification models were evaluated by sensitivity, specificity, accuracy, and the area under the receiver operating characteristic (ROC) curve (AUC). RESULTS: Our results demonstrated that the 10 out of 26 discriminative features were displayed more powerful performance, regardless of the chosen of classification models and feature selection methods. These ten discriminative features were distal end of phalanges alterations, metaphysis alterations and carpals alterations and clinical manifestations of ankle joint movement limitation, enlarged finger joints, flexion of the distal part of fingers, elbow joint movement limitation, squatting limitation, deformed finger joints, wrist joint movement limitation. CONCLUSIONS: The selected ten discriminative features could provide a fast, effective diagnostic standard for KBD adolescents.


Assuntos
Falanges dos Dedos da Mão , Articulação da Mão , Doença de Kashin-Bek , Adolescente , Articulações dos Dedos , Humanos , Doença de Kashin-Bek/diagnóstico por imagem , Doença de Kashin-Bek/epidemiologia , Amplitude de Movimento Articular
11.
World J Diabetes ; 12(8): 1292-1303, 2021 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-34512894

RESUMO

BACKGROUND: In addition to insulin resistance, impaired insulin secretion has recently been identified as a crucial factor in the pathogenesis of type 2 diabetes mellitus (T2DM). Scarce clinical data exist for pediatric T2DM. AIM: To investigate the association of ß-cell function and insulin resistance with pediatric T2DM in the first Chinese multicenter study. METHODS: This multicenter cross-sectional study included 161 newly diagnosed T2DM children and adolescents between January 2017 and October 2019. Children with normal glycemic levels (n = 1935) were included as healthy control subjects. The homeostasis models (HOMAs) were used to assess the ß-cell function (HOMA2-%B) and insulin resistance (HOMA2-IR) levels. The HOMA index was standardized by sex and age. We performed logistic regression analysis to obtain odds ratios (ORs) for T2DM risk using the standardized HOMA index, adjusted for confounding factors including sex, Tanner stage, T2DM family history, body mass index z-score, and lipid profile. RESULTS: The male-female ratio of newly diagnosed T2DM patients was 1.37:1 (OR = 2.20, P = 0.011), and the mean ages of onset for boys and girls were 12.5 ± 1.9 years and 12.3 ± 1.7 years, respectively. The prevalence of related comorbidities including obesity, elevated blood pressure, and dyslipidemia was 58.2%, 53.2%, and 80.0%, respectively. The T2DM group had lower HOMA2-%B levels (P < 0.001) and higher HOMA2-IR levels (P < 0.001) than the control group. Both the decrease in HOMA2-%B z-score (OR = 8.40, 95%CI: 6.40-11.02, P < 0.001) and the increase in HOMA2-IR z-score (OR = 1.79, 95%CI: 1.60-2.02, P < 0.001) were associated with a higher risk of T2DM, and the decrease in HOMA2-%B z-score always had higher ORs than the increase in HOMA2-IR z-score after adjusting for confounding factors. CONCLUSION: Besides insulin resistance, ß-cell function impairment is also strongly associated with Chinese pediatric T2DM. Gender difference in susceptibility and high comorbidities warrant specific T2DM screening and prevention strategies in Chinese children.

12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 865-868, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487532

RESUMO

OBJECTIVE: To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency. METHODS: Clinical data of the child was collected. Whole exome sequencing was carried out by next generation sequencing(NGS). Candidate variants were verified by Sanger sequencing. RESULTS: The infant had measured 54 cm (-2.1 SD) in length and 3.9 kg (-2.8 SD) in weight, and featured recurrent vomiting, poor feeding, apathetic appearance and failure to thrive. Blood electrolyte testing showed low sodium and increased potassium. Serum cortisol, adrenocorticotrophic hormone, 17-alpha-hydroxyl progesterone, androstenedione, and testosterone were all within the normal ranges. The plasma renin activity activity was increased, and plasma aldosterone level was low. NGS revealed that the infant has harbored compound heterozygous variants of the CYP11B2 gene, namely c.1334T>G(p.Phe445Cys) inherited from his father and c.1121G>A(p.Arg374Gln) inherited from his mother. Neither variant was reported previously, and both were predicted to be deleterious for the function of the protein product. CONCLUSION: The compound heterozygous variants of c.1334T>G (p.Phe445Cys) and c.1121G>A (p.Arg374Gln) of the CYP11B2 gene probably underlay the disease in this patient.


Assuntos
Citocromo P-450 CYP11B2 , Testes Genéticos , Criança , Citocromo P-450 CYP11B2/deficiência , Citocromo P-450 CYP11B2/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Mutação , Sequenciamento Completo do Exoma
13.
Phys Chem Chem Phys ; 23(32): 17683-17692, 2021 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-34373884

RESUMO

The electroreduction of dinitrogen (N2) is an attractive method for ambient ammonia (NH3) synthesis. In this work, double boron atom-anchored two-dimensional (2D) graphdiyne (GDY-2B) electrocatalysts have been designed and examined for the N2 reduction reaction (NRR) by density functional theory computations. Our calculations revealed that double boron atoms can be strongly embedded in a graphdiyne monolayer. In particular, configuration GDY-2B(S2S2') with two boron atoms substituting two equivalent sp-carbon atoms of diacetylene linkages exhibits excellent catalytic performance for reducing N2, with an extremely low overpotential of 0.12 V. The "pull-pull" mechanism imposed by doped double boron atoms is responsible for the magnificent effect of N2 activation. Besides, the competitive reaction of the hydrogen evolution reaction (HER) is suppressed owing to a large ΔGH* value of -1.25 eV. Based on these results, our study provides useful guidelines for designing effective double atomic catalysts (DACs) based on nonmetal 2D nanosheets for effective electrochemical reduction reactions.

14.
J Genet Genomics ; 48(8): 727-736, 2021 08 20.
Artigo em Inglês | MEDLINE | ID: mdl-34334354

RESUMO

Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes. A nuclear gene HPDL (4-hydroxyphenylpyruvate dioxygenase-like), which encodes an intermembrane mitochondrial protein, has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes. Here, we report six Chinese patients with bi-allelic HPDL pathogenic variants from four unrelated families showing neuropathic symptoms of variable severity, including developmental delay/intellectual disability, spasm, and hypertonia. Seven different pathogenic variants are identified, of which five are novel. Both fibroblasts and immortalized lymphocytes derived from patients show impaired mitochondrial respiratory function, which is also observed in HPDL-knockdown (KD) HeLa cells. In these HeLa cells, overexpression of a wild-type HPDL gene can rescue the respiratory phenotype of oxygen consumption rate. In addition, a decreased activity of the oxidative phosphorylation (OXPHOS) complex II is observed in patient-derived lymphocytes and HPDL-KD HeLa cells, further supporting an essential role of HPDL in the mitochondrial respiratory chain. Collectively, our data expand the clinical and mutational spectra of this mitochondrial neuropathy and further delineate the possible disease mechanism involving the impairment of the OXPHOS complex II activity due to the bi-allelic inactivations of HPDL.

15.
Ecotoxicol Environ Saf ; 222: 112531, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34303041

RESUMO

Inorganic arsenic compounds are environmental toxicants that are widely distributed in air, water, and food. B-cell lymphoma 2 (BCL-2) is an oncogene having anti-apoptotic function. In this study, we clarify that BCL-2, as a pro-apoptotic factor, participates in As2O3-induced apoptosis in BEAS-2B cells. Specifically, As2O3 stimulated the expression of BCL-2 mRNA and protein in a dose-dependent manner which was highly accumulated in the nucleus of BEAS-2B cell together with chromatin condensation and DNA fragmentation during apoptosis. Mechanistically, the process described above is mediated through the NF-κB and p38 MAPK signaling pathways, which can be abated by corresponding inhibitors, such as BAY11-7082 and SB203580, respectively. Additionally, BAY11-7082, actinomycin D, and cycloheximide have inhibitory effects on As2O3-induced expression of BCL-2 mRNA and protein, and restore the cell viability of BEAS-2B cells. Suppression of BCL-2 protein activation by ABT-199 also restored viability of BEAS-2B cell in As2O3-induced apoptosis. Furthermore, As2O3 increased the level of BCL-2 phosphorylation. These results suggest that in BEAS-2B cells, As2O3-induced apoptosis is mainly dominated by BCL-2 upregulation, nuclear localization and phosphorylation. The study presented here provides a novel insight into the molecular mechanism of BCL-2-induced apoptosis.


Assuntos
Apoptose , Arsenicais , Trióxido de Arsênio/toxicidade , NF-kappa B/genética , Óxidos/toxicidade , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteínas Quinases p38 Ativadas por Mitógeno/genética
16.
Artigo em Inglês | MEDLINE | ID: mdl-34061749

RESUMO

Malaria is a mosquito-borne disease that results in millions of cases and deaths annually. The development of a fast computational method that identifies secretory proteins of the malaria parasite is important for research on antimalarial drugs and vaccines. Thus, a method was developed to identify the secretory proteins of malaria parasites. In this method, a reduced alphabet was selected to recode the original protein sequence. A feature synthesis method was used to synthesise three different types of feature information. Finally, the random forest method was used as a classifier to identify the secretory proteins. In addition, a web server was developed to share the proposed algorithm. Experiments using the benchmark dataset demonstrated that the overall accuracy achieved by the proposed method was greater than 97.8% using the 10-fold cross-validation method. Furthermore, the reduced schemes and characteristic performance analyses are discussed.

17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(5): 481-484, 2021 May 10.
Artigo em Chinês | MEDLINE | ID: mdl-33974261

RESUMO

OBJECTIVE: To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature. METHODS: Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software. RESULTS: The child was found to carry compound heterozygous missense variants of the ALPL gene, including c.1130C>T (p.A377V), a known pathogenic mutation inherited from her father, and c.1300G>A (p.V434M) inherited from her mother, which was unreported previously and predicted to be likely pathogenic based on standards and guidelines from the American College of Medical Genetics and Genomics (PM2+PM5+PP3+PP4). CONCLUSION: The compound heterozygous variants of c.1130C>T (p.Ala377Val) and c.1300G>A (p.Val434Met) of the ALPL gene probably underlay the disease in this child. Above finding has enriched the spectrum of ALPL gene variants.


Assuntos
Hipofosfatasia , Fosfatase Alcalina , Criança , Feminino , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hipofosfatasia/genética , Mutação , Sequenciamento Completo do Exoma
18.
Mol Genet Genomic Med ; 9(6): e1625, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33982424

RESUMO

BACKGROUND: Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene (OMIM 609831), of which more than 100 mutations have been identified to date. In this study, we only identified a coding mutation in one allele at the MMACHC gene locus, and no large fragments deletion or duplication were found. Up to now, only three epimutation cblC cases were reported. We hypothesized whether the MMACHC was hypermethylated. METHODS: To address this hypothesis, the entire coding region and adjacent splice sites of the panel genes involved in metabolic diseases were sequenced using the Illumina HiSeq X platform, followed by confirmation via Sanger sequencing in their parents and brothers. Methylation analysis of the MMACHC was performed using an EpiTect Bisulfite Kit and methylation-specific PCR (MSP) to investigate the role of epimutations in cblC disease. RESULTS: We identified a clearly pathogenic single heterozygous c.658_660del, p. (K220del) mutation, which was also identified in the mother. Analysis of the MMACHC indicated a heterozygous epimutation consisting of 34 hypermethylated CpG sites in a CpG island encompassing the promoter and first exon of the MMACHC, which was also identified in the father. Furthermore, we identified a single heterozygous c.*2C>T mutation in the sixth exon of the PRDX1 (OMIM 176763) in patients and their fathers, which was the only sequence variation that segregated with the MMACHC methylation. Neither c.658_660del and epimutation in MMACHC nor c.*2C>T in PRDX1 was discovered in her brother. CONCLUSION: We report compound heterozygotes in MMACHC for a genetic mutation and an epimutation in cblC cases. To our best knowledge, this is the first report of two cblC cases from China caused by compound heterozygous mutations with a coding mutation in one allele and an epimutation in the other at the MMACHC locus.

19.
Sci Total Environ ; 787: 147609, 2021 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-34000549

RESUMO

Soil erosion affects agricultural landscapes worldwide, threatening food security and ecosystem viability. In arable environments, soil loss is primarily caused by short, intense rainstorms, typically characterized by high spatiotemporal variability. The complexity of erosive events challenges modeling efforts and explicit inclusion of extreme events in long-term risk assessment is missing. This study is intended to bridge this gap by quantifying the discrete and cumulative impacts of rainstorms on plot-scale soil erosion and providing storm-scale erosion risk analyses for a cropland region in northern Israel. Central to our analyses is the coupling of (1) a stochastic rainfall generator able to reproduce extremes down to 5-minute temporal resolutions; (2) a processes-based event-scale cropland erosion model (Dynamic WEPP, DWEPP); and, (3) a state-of-the-art frequency analysis method that explicitly accounts for rainstorms occurrence and properties. To our knowledge, this is the first study in which DWEPP runoff and soil loss are calibrated at the plot-scale on cropland (NSE is 0.82 and 0.79 for event runoff and sediment, respectively). We generated 300-year stochastic simulations of event runoff and sediment yield based on synthetic precipitation time series. Based on this data, the mean annual soil erosion in the study site is 0.1 kg m-2 [1.1 t ha-1]. Results of the risk analysis indicate that individual extreme rainstorms (>50 return period), characterized by high rainfall intensities (30-minute maximal intensity > ~60 mm h-1) and high rainfall depth (>~200 mm), can trigger soil losses even one order of magnitude higher than the annual mean. The erosion efficiency of these rainstorms is mainly controlled by the short-duration (≤30 min) maximal intensities. The results demonstrate the importance of incorporating the impact of extreme events into soil conservation and management tools. We expect our methodology to be valuable for investigating future changes in soil erosion with changing climate.

20.
Proteomics ; 21(15): e2100017, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34009737

RESUMO

Antioxidant proteins can terminate a chain of reactions caused by free radicals and protect cells from damage. To identify antioxidant proteins rapidly, a computational model was proposed based on the optimized recoding scheme, sequence information and machine learning methods. First, over 600 recoding schemes were collected to build a scheme set. Then, the original sequence was recoded as a reduced expression whose g-gap dipeptides (g = 0, 1, 2) were used as the features of proteins. Furthermore, a random forest method was used to evaluate the classification ability of the obtained dipeptide features. After going through all schemes, the best predictive performance scheme was chosen as the optimized reduction scheme. Finally, for the RF method, a grid search strategy was used to select a better parameter combination to identify antioxidant proteins. In the experiment, the present method correctly recognized 90.13-99.87% of the antioxidant samples. Other experimental results also proved that the present method was efficient to identify antioxidant proteins. Finally, we also developed a web server that was freely accessible to researchers.


Assuntos
Antioxidantes , Proteínas , Eletrólitos , Aprendizado de Máquina
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