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1.
ACS Synth Biol ; 2022 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-35507528

RESUMO

Geraniol is a rose-scented monoterpene with significant commercial and industrial value in medicine, condiments, cosmetics, and bioenergy. Here, we first targeted geraniol as a reporter metabolite and explored the suitability and potential of Candida glycerinogenes as a heterologous host for monoterpenoid production. Subsequently, dual-pathway engineering was employed to improve the production of geraniol with a geraniol titer of 858.4 mg/L. We then applied a synthetic hybrid promoter approach to develop a decane-responsive hybrid promoter based on the native promoter PGAP derived from C. glycerinogenes itself. The hybrid promoter was able to be induced by n-decane with 3.6 times higher transcriptional intensity than the natural promoter PGAP. In particular, the hybrid promoter effectively reduces the conflict between cell growth and product formation in the production of geraniol. Ultimately, 1194.6 mg/L geraniol was obtained at the shake flask level. The strong and tunable decane-responsive hybrid promoter developed in this study provides an important tool for fine regulation of toxic terpenoid production in cells.

2.
Molecules ; 27(9)2022 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-35566293

RESUMO

It is well known that organic acids (OAs) could affect the flavour of fruit juices and beverages. However, the molecular mechanism of aroma release is still unclear. In this study, the effects of citric acid (CA), L-(-)-malic acid (MA) and L-lactic acid (LA) on the release of six selected esters and their sensory perception were investigated by means of HS-GC-MS analyses and odour detection threshold determination, respectively. Meanwhile, the density functional theory (DFT) calculation was employed to explore the interaction modes between esters and OAs. HS-GC-MS analyses showed that the concentration and the type of OAs regulated the release of esters. The results were basically consistent with the detection threshold change of those esters. The DFT calculation suggested that the main intermolecular interaction was hydrogen bonds, and several esters could form a ternary ring structure with OAs through hydrogen bonds. The interactions can induce the different release behaviours of esters in OAs water solution. The number of carboxyl functional groups in OAs and the spatial conformation of esters appeared to influence the magnitude of the interaction. The above results demonstrated the mechanism of OAs affecting the release of esters and indicated a possible flavour control way by using different OAs and OA concentrations.

3.
BMJ Open ; 12(4): e049789, 2022 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-35414539

RESUMO

OBJECTIVES: The study was designed to clarify the difference between extrahepatic cholangiocarcinoma (ECC) and intrahepatic cholangiocarcinoma (ICC) in postoperative cancer-specific death. DESIGN: Patients diagnosed with ECC and ICC after surgery, who are identified from the Surveillance, Epidemiology and End Results programme, are eligible for this retrospective cohort study. SETTING: Survival between groups was compared using the traditional Kaplan-Meier method and the cumulative incidence function (CIF) method. Propensity score-matched (PSM) analysis was conducted to balance the differences in vital variables between groups. The HR and 95% CI for ECC relative to ICC were used to quantify the risk of death. Subgroup analysis was further used to evaluate the stability of the differences between groups. RESULTS: The study included 876 patients with ECC and 1194 patients with ICC. Before PSM, with the Kaplan-Meier method, postoperative overall survival and cancer-specific death for ECC were worse than those for ICC. However, with the CIF method, no difference in postoperative cancer-specific death was found. After PSM, all differences in the considered traits were balanced, and 173 pairs of patients were retained. Survival analysis found that there was no difference in postoperative all-cause death (Kaplan-Meier method, p=0.186) or cancer-specific death (Kaplan-Meier and CIF methods, p=0.500 and p=0.913, respectively), which was consistent with subgroup analysis. CONCLUSIONS: ECC and ICC showed no difference in postoperative cancer-specific death, both in the natural state and in multiple variable-matched conditions. TRIAL REGISTRATION NUMBER: researchregistry4175.


Assuntos
Neoplasias dos Ductos Biliares , Colangiocarcinoma , Neoplasias dos Ductos Biliares/epidemiologia , Neoplasias dos Ductos Biliares/cirurgia , Ductos Biliares Intra-Hepáticos/patologia , Colangiocarcinoma/diagnóstico , Colangiocarcinoma/cirurgia , Humanos , Prognóstico , Estudos Retrospectivos , Fatores de Risco
5.
Comput Struct Biotechnol J ; 20: 1036-1043, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35284048

RESUMO

The infectious and parasitic diseases represent a major threat to public health and are among the main causes of morbidity and mortality. The complex and divergent life cycles of parasites present major difficulties associated with the diagnosis of these organisms by microscopic examination. Deep learning has shown extraordinary performance in biomedical image analysis including various parasites diagnosis in the past few years. Here we summarize advances of deep learning in the field of protozoan parasites microscopic examination, focusing on publicly available microscopic image datasets of protozoan parasites. In the end, we summarize the challenges and future trends, which deep learning faces in protozoan parasite diagnosis.

6.
J Org Chem ; 87(7): 4998-5004, 2022 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-35316042

RESUMO

A hydroamination of unactivated alkynes and lithium bis(fluorosulfonyl)imide (LiN(SO2F)2) is described under mild conditions, affording a single regioisomer of the sulfonyl fluorides. This method features broad functional group compatibility and delivers the target vinyl fluorosulfonimides in good to excellent yields. Moreover, gram-scale hydroamination of terminal and internal alkynes is achieved. Further transformations exploiting the reactivity of the vinyl fluorosulfonimide are subsequently developed for the synthesis of fluorosulfates and diphenyl sulfate.

7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(3): 257-263, 2022 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-35315032

RESUMO

OBJECTIVE: To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program. METHODS: A retrospective analysis was carried out on 149 165 women undergoing NIPT test from April 9, 2018 to December 31, 2019. For pregnant women with high risks, invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted. The cost-benefit of NIPT for Down syndrome was analyzed. RESULTS: NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035. CONCLUSION: NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.


Assuntos
Teste Pré-Natal não Invasivo , Aneuploidia , Análise Custo-Benefício , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética
8.
Biomed Environ Sci ; 35(3): 206-214, 2022 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-35317900

RESUMO

Objective: To explore associations between lipoprotein-associated phospholipase A2 (Lp-PLA2) and the risk of cardiovascular events in a Chinese population, with a long-term follow-up. Methods: A random sample of 2,031 participants (73.6% males, mean age = 60.4 years) was derived from the Asymptomatic Polyvascular Abnormalities Community study (APAC) from 2010 to 2011. Serum Lp-PLA2 levels were determined by enzyme-linked immunosorbent assay (ELISA). The composite endpoint was a combination of first-ever stroke, myocardial infarction (MI) or all-cause death. Lp-PLA2 associations with outcomes were assessed using Cox models. Results: The median Lp-PLA2 level was 141.0 ng/mL. Over a median follow-up of 9.1 years, we identified 389 events (19.2%), including 137 stroke incidents, 43 MIs, and 244 all-cause deaths. Using multivariate Cox regression, when compared with the lowest Lp-PLA2 quartile, the hazard ratios with 95% confidence intervals for developing composite endpoints, stroke, major adverse cardiovascular events, and all-cause death were 1.77 (1.24-2.54), 1.92 (1.03-3.60), 1.69 (1.003-2.84), and 1.94 (1.18-3.18) in the highest quartile, respectively. Composite endpoints in 145 (28.6%) patients occurred in the highest quartile where Lp-PLA2 (159.0 ng/mL) was much lower than the American Association of Clinical Endocrinologists recommended cut-off point, 200 ng/mL. Conclusion: Higher Lp-PLA2 levels were associated with an increased risk of cardiovascular event/death in a middle-aged Chinese population. The Lp-PLA2 cut-off point may be lower in the Chinese population when predicting cardiovascular events.


Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase/análise , Doenças Cardiovasculares/diagnóstico , Valor Preditivo dos Testes , 1-Alquil-2-acetilglicerofosfocolina Esterase/sangue , China/epidemiologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Mortalidade , Infarto do Miocárdio/sangue , Fatores de Risco , Acidente Vascular Cerebral/sangue
9.
ACS Synth Biol ; 11(2): 900-908, 2022 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-35138824

RESUMO

Caffeic acid (CA), a natural phenolic compound, has important medicinal value and market potential. In this study, we report a metabolic engineering strategy for the biosynthesis of CA in Candida glycerinogenes using xylose and glucose. The availability of precursors was increased by optimization of the shikimate (SA) pathway and the aromatic amino acid pathway. Subsequently, the carbon flux into the SA pathway was maximized by introducing a xylose metabolic pathway and optimizing the xylose assimilation pathway. Eventually, a high yielding strain CG19 was obtained, which reached a yield of 4.61 mg/g CA from mixed sugar, which was 1.2-fold higher than that of glucose. The CA titer in the 5 L bioreactor reached 431.45 mg/L with a yield of 8.63 mg/g of mixed sugar. These promising results demonstrate the great advantages of mixed sugar over glucose for high-yield production of CA. This is the first report to produce CA in C. glycerinogenes with xylose and glucose as carbon sources, which developed a promising strategy for the efficient production of high-value aromatic compounds.


Assuntos
Glucose , Xilose , Ácidos Cafeicos , Fermentação , Glucose/metabolismo , Engenharia Metabólica/métodos , Pichia , Xilose/metabolismo
10.
Org Lett ; 24(2): 720-725, 2022 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-34981944

RESUMO

Visible-light-promoted alkoxysulfonylation of gem-difluoroalkenes using sulfonyl chlorides and alcohols has been developed. The reaction exhibits a relatively broad substrate scope with excellent functional group compatibility. This synthesis method includes an atom transfer radical addition-like process. The products can be used as platform molecules for further modification.

11.
Microbiol Spectr ; 10(1): e0146321, 2022 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-35019684

RESUMO

Anthranilate is a diffusible molecule produced by Pseudomonas aeruginosa and accumulates as P. aeruginosa grows. Anthranilate is an important intermediate for the synthesis of tryptophan and the Pseudomonas quinolone signal (PQS), as well as metabolized by the anthranilate dioxygenase complex (antABC operon products). Here we demonstrate that anthranilate is a key factor that modulates the pathogenicity-related phenotypes of P. aeruginosa and other surrounding bacteria in the environment, such as biofilm formation, antibiotic tolerance, and virulence. We found that the anthranilate levels in P. aeruginosa cultures rapidly increased in the stationary phase and then decreased again, forming an anthranilate peak. Biofilm formation, antibiotic susceptibility, and virulence of P. aeruginosa were significantly altered before and after this anthranilate peak. In addition, these phenotypes were all modified by the mutation of antABC and exogenous addition of anthranilate. Anthranilate also increased the antibiotic susceptibility of other species of bacteria, such as Escherichia coli, Salmonella enterica, Bacillus subtilis, and Staphylococcus aureus. Before the anthranilate peak, the low intracellular anthranilate level was maintained through degradation from the antABC function, in which induction of antABC was also limited to a small extent. The premature degradation of anthranilate, due to its high levels, and antABC expression early in the growth phase, appears to be toxic to the cells. From these results, we propose that by generating an anthranilate peak as a signal, P. aeruginosa may induce some sort of physiological change in surrounding cells. IMPORTANCE Pseudomonas aeruginosa is a notorious pathogen with high antibiotic resistance, strong virulence, and ability to cause biofilm-mediated chronic infection. We found that these characteristics change profoundly before and after the time when anthranilate is produced as an "anthranilate peak". This peak acts as a signal that induces physiological changes in surrounding cells, decreasing their antibiotic tolerance and biofilm formation. This study is important in that it provides a new insight into how microbial signaling substances can induce changes in the pathogenicity-related phenotypes of cells in the environment. In addition, this study shows that anthranilate can be used as an adjuvant to antibiotics.


Assuntos
Antibacterianos/farmacologia , Biofilmes , Pseudomonas aeruginosa/efeitos dos fármacos , Pseudomonas aeruginosa/fisiologia , ortoaminobenzoatos/metabolismo , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Biofilmes/efeitos dos fármacos , Humanos , Infecções por Pseudomonas/microbiologia , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/patogenicidade , Salmonella enterica/efeitos dos fármacos , Salmonella enterica/genética , Salmonella enterica/metabolismo , Staphylococcus aureus/efeitos dos fármacos , Staphylococcus aureus/genética , Staphylococcus aureus/metabolismo , Virulência
12.
Int J Lab Hematol ; 44(1): 223-228, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34505740

RESUMO

INTRODUCTION: Newborn screening is an important supplement to thalassemia control and prevention. Capillary electrophoresis (CE) technology has several advantages for thalassemia screening but with low sensitivity, especially for thalassemia carriers. This study aims to illustrate the application of an optimized interpretation model in newborn thalassemia screening by capillary hemoglobin electrophoresis. METHODS: Two thousand, two hundred fifty-eight neonates selected from four regions in China were enrolled and were screened for α-thalassemia and ß-thalassemia by capillary electrophoresis. Results were interpreted based on an optimized model integrated with multiple parameters. Molecular analysis was carried out in synchrony and used as the gold standard for the screening performance assessment. The consistency among different regions and thalassemia genotypes were also investigated. RESULTS: Among the 2258 neonates, 485 were identified to have a likely diagnosis of thalassemia, and 422 α-thalassemia, 80 ß-thalassemia, and 21 α/ß-thalassemia cases were confirmed by molecular analysis, including 277 α-thalassemia silent carriers, 135 α-thalassemia trait carriers, 10 Hemoglobin H disease, and 80 ß-thalassemia trait carriers. The screening sensitivity, specificity, positive, and negative predictive value for α-thalassemia and ß-thalassemia were 84.83%, 99.14%, 95.98%, 96.41%, and 88.75%, 98.73%, 76.34%, and 99.48%, respectively. The optimized interpretation model showed higher performance for thalassemia carriers, though some neonates with silent α-thalassemia genotypes (-α3.7 /αα, -α4.2 /αα, and αWS α/αα) and ß-28 /ßN genotype were still missed. The screening performance among different regions was comparable. CONCLUSIONS: Capillary hemoglobin electrophoresis with the optimized interpretation model shows reliable performance for newborn thalassemia screening. It is applicable to large-scale population screening.


Assuntos
Eletroforese das Proteínas Sanguíneas/métodos , Eletroforese Capilar/métodos , Hemoglobinas/análise , Triagem Neonatal/métodos , Talassemia/sangue , Talassemia/diagnóstico , Alelos , Eletroforese das Proteínas Sanguíneas/normas , Eletroforese Capilar/normas , Genótipo , Hemoglobinas/genética , Humanos , Recém-Nascido , Mutação , Triagem Neonatal/normas , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Talassemia/epidemiologia , Talassemia/etiologia
13.
J Cardiovasc Transl Res ; 15(1): 131-142, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34075552

RESUMO

Sacubitril/valsartan (SAC/VAL) prevents angiotensin II (AngII) from binding AT1-R and blocks degradation of natriuretic peptides. Despite its efficacy in reducing ventricular fibrosis and preserving cardiac functions, which has been extensively demonstrated in myocardial infarction or pressure overload models, few studies have been conducted to determine whether SAC/VAL could attenuate atrial fibrosis and decrease atrial fibrillation (AF) susceptibility. Our study provided evidence for the inhibition of atrial fibrosis and reduced susceptibility to AF by SAC/VAL. After 28 days of AngII continuous subcutaneous stimulation, rats in SAC/VAL group exhibited reduced extent of atrial fibrosis, inhibited proliferation, migration, and differentiation of atrial fibroblasts, and decreased susceptibility to AF. We further found that inhibition of p-Smad2/3, p-JNK, and p-p38MAPK pathways is involved in the role of SAC/VAL on AngII-induced atrial fibrosis in vivo. These results emphasize the importance of SAC/VAL in the prevention of AngII-induced atrial fibrosis and may help to enrich the options for AF pharmacotherapy.


Assuntos
Angiotensina II , Fibrilação Atrial , Aminobutiratos , Animais , Fibrilação Atrial/induzido quimicamente , Fibrilação Atrial/prevenção & controle , Compostos de Bifenilo , Fibrose , Ratos , Transdução de Sinais , Valsartana/farmacologia
14.
Biosens Bioelectron ; 197: 113738, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34740120

RESUMO

In the health domain, a major challenge is the detection of diseases using rapid and cost-effective techniques. Most of the existing cancer detection methods show poor sensitivity and selectivity and are time consuming with high cost. To overcome this challenge, we analyzed porous fabricated metal-organic frameworks (MOFs) that have better structures and porosities for enhanced biomarker sensing. Here, we summarize the use of fabricated MOF luminescence and electrochemical sensors in devices for cancer biomarker detection. Various strategies of fabrication and the role of fabricated materials in sensing cancer biomarkers have been studied and described. The structural properties, sensing mechanisms, roles of noncovalent interactions, limits of detection, modeling, advantages, and limitations of MOF sensors have been well-discussed. The study presents an innovative technique to detect the cancer biomarkers by the use of luminescence and electrochemical MOF sensors. In addition, the potential association studies have been opening the way for personalized patient treatments and the development of new cancer-detecting devices.


Assuntos
Técnicas Biossensoriais , Estruturas Metalorgânicas , Neoplasias , Biomarcadores Tumorais , Humanos , Luminescência , Neoplasias/diagnóstico
15.
IEEE Trans Cybern ; PP2021 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-34910655

RESUMO

Current fully supervised facial landmark detection methods have progressed rapidly and achieved remarkable performance. However, they still suffer when coping with faces under large poses and heavy occlusions for inaccurate facial shape constraints and insufficient labeled training samples. In this article, we propose a semisupervised framework, that is, a self-calibrated pose attention network (SCPAN) to achieve more robust and precise facial landmark detection in challenging scenarios. To be specific, a boundary-aware landmark intensity (BALI) field is proposed to model more effective facial shape constraints by fusing boundary and landmark intensity field information. Moreover, a self-calibrated pose attention (SCPA) model is designed to provide a self-learned objective function that enforces intermediate supervision without label information by introducing a self-calibrated mechanism and a pose attention mask. We show that by integrating the BALI fields and SCPA model into a novel SCPAN, more facial prior knowledge can be learned and the detection accuracy and robustness of our method for faces with large poses and heavy occlusions have been improved. The experimental results obtained for challenging benchmark datasets demonstrate that our approach outperforms state-of-the-art methods in the literature.

16.
Front Microbiol ; 12: 739684, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34777286

RESUMO

Deep learning significantly accelerates the drug discovery process, and contributes to global efforts to stop the spread of infectious diseases. Besides enhancing the efficiency of screening of antimicrobial compounds against a broad spectrum of pathogens, deep learning has also the potential to efficiently and reliably identify drug candidates against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Consequently, deep learning has been successfully used for the identification of a number of potential drugs against SARS-CoV-2, including Atazanavir, Remdesivir, Kaletra, Enalaprilat, Venetoclax, Posaconazole, Daclatasvir, Ombitasvir, Toremifene, Niclosamide, Dexamethasone, Indomethacin, Pralatrexate, Azithromycin, Palmatine, and Sauchinone. This mini-review discusses recent advances and future perspectives of deep learning-based SARS-CoV-2 drug discovery.

17.
Microbiol Spectr ; 9(2): e0078221, 2021 10 31.
Artigo em Inglês | MEDLINE | ID: mdl-34704789

RESUMO

Pseudomonas aeruginosa, an opportunistic human pathogen, expresses protease IV (PIV) for infection. Since the PIV activity can be inhibited by its propeptide, we tried to alleviate the severity of P. aeruginosa infection using the purified PIV propeptide (PIVpp). The PIVpp treatment of P. aeruginosa could significantly inhibit the PIV activity and reduce the virulence of P. aeruginosa in multiple invertebrate infection models, such as nematodes, brine shrimp, and mealworms. The effectiveness of PIVpp was further confirmed using mouse skin infection and acute/chronic lung infection models. The amount of PIVpp that inhibited the PIV activity of P. aeruginosa by 65% could alleviate the severity of infection significantly in all of the skin and acute/chronic lung infections. In addition, the PIVpp treatment of P. aeruginosa facilitated the healing of the skin wound infections and repressed the growth of P. aeruginosa in the infected lung. The PIVpp itself did not cause the induction of inflammatory cytokines or have any harmful effects on host tissues and did not affect bacterial growth. Taken together, P. aeruginosa infections can be alleviated by PIVpp treatment. IMPORTANCE Pseudomonas aeruginosa is a highly antibiotic-resistant pathogen and is extremely difficult to treat. Instead of using conventional antibiotics, we attempted to alleviate P. aeruginosa infection using factors that P. aeruginosa itself produces naturally. Extracellular proteases are powerful virulence factors and important targets to control the P. aeruginosa infections. Propeptides are originally expressed as part of extracellular proteases, inhibiting their activity until they go out of the cell, preventing them from becoming toxic to the cells themselves. We confirmed, from multiple animal experiments, that treating P. aeruginosa with the purified propeptide can alleviate its infectivity. Propeptides specifically inhibit only their cognate protease without inhibiting other essential proteases of the host. The development of resistance can be avoided because the propeptide-mediated inhibition is an inherent mechanism of P. aeruginosa; hence, it will be difficult for P. aeruginosa to alter this mechanism. Since propeptides do not affect bacterial growth, there is no selective pressure to develop resistant cells.


Assuntos
Peptídeo Hidrolases/metabolismo , Peptídeos/farmacologia , Infecções por Pseudomonas/tratamento farmacológico , Pseudomonas aeruginosa/efeitos dos fármacos , Animais , Caenorhabditis elegans , Modelos Animais de Doenças , Controle de Infecções , Pneumopatias/tratamento farmacológico , Pneumopatias/microbiologia , Masculino , Camundongos , Camundongos Endogâmicos ICR , Infecções por Pseudomonas/microbiologia , Pseudomonas aeruginosa/enzimologia , Distribuição Aleatória , Dermatopatias Bacterianas/tratamento farmacológico , Dermatopatias Bacterianas/microbiologia , Virulência , Fatores de Virulência/metabolismo
18.
ACS Omega ; 6(40): 25846-25859, 2021 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-34632242

RESUMO

COVID-19 pandemic caused by the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) has become the world's largest public health emergency of the past few decades. Thousands of mutations were identified in the SARS-CoV-2 genome. Some mutants are more infectious and may replace the original strains. Recently, B.1.1.7(Alpha), B1.351(Beta), and B.1.617.2(Delta) strains, which appear to have increased transmissibility, were detected. These strains accounting for the high proportion of newly diagnosed cases spread rapidly over the world. Particularly, the Delta variant has been reported to account for a vast majority of the infections in several countries over the last few weeks. The application of biosensors in the detection of SARS-CoV-2 is important for the control of the COVID-19 pandemic. Due to high demand for SARS-CoV-2 genotyping, it is urgent to develop reliable and efficient systems based on integrated multiple biosensor technology for rapid detection of multiple SARS-CoV-2 mutations simultaneously. This is important not only for the detection and analysis of the current but also for future mutations. Novel biosensors combined with other technologies can be used for the reliable and effective detection of SARS-CoV-2 mutants.

19.
Front Genet ; 12: 699894, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34394191

RESUMO

Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from unrelated Chinese families. Clinically, all the three cases were classified as classic CdLS based on the cardinal (distinctive facial features and limb malformations) and suggestive (developmental delay, growth retardation, microcephaly, hirsutism, etc.) manifestations. SNP array detected a novel de novo heterozygous microdeletion of 0.2 Mb [arr[GRCh37]5p13.2(36848530_37052821) × 1] that spans the first 43 exons of NIPBL in the fetus with nuchal translucency thickening in case 1. Whole-exome sequencing in family trios plus Sanger sequencing validation identified a de novo heterozygous NIPBL c.5566G>A (p.R1856G) mutation in the fetus with intrauterine growth retardation in case 2 and a novel de novo heterozygous NIPBL c.448dupA (p.S150Kfs*23) mutation in the proband (an 8-month-old girl) in case 3. The cases presented in this study may serve as references for increasing our understanding of the mutation spectrum of NIPBL in association with CdLS.

20.
BMJ Open ; 11(8): e053617, 2021 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-34452972

RESUMO

INTRODUCTION: Chromosomal abnormalities and monogenic disorders account for ~15%-25% of recognisable birth defects. With limited treatment options, preconception and prenatal screening were developed to reduce the incidence of such disorders. Currently, non-invasive prenatal screening (NIPS) for common aneuploidies is implemented worldwide with superiority over conventional serum or sonographic screening approaches. However, the clinical validity for the screening of frequent chromosome segmental copy number variations and monogenic disorders still awaits to be proved. METHODS AND ANALYSIS: This study is a multicentre, prospective study. The participants were recruited from three tertiary hospitals in China starting from 10 April 2021. The study is expected to conclude before 10 October 2022. Pregnant women with abnormal prenatal screening results indicated for invasive prenatal diagnosis or those who decide to terminate their pregnancies due to abnormal ultrasound findings will be evaluated for enrolment. Cell-free DNA extracted from the maternal plasma will be used for an analytically validated comprehensive NIPS test developed by Beijing BioBiggen Technology Co. (Beijing, China). The diagnostic results from prenatal or postnatal specimens as well as the pregnancy outcome data will be collected to examine the clinical sensitivity, specificity, positive and negative predictive values of the test. ETHICS AND DISSEMINATION: This study was approved by the Obstetrics and Gynecology Hospital of Fudan University (2020-178). Results of this study will be disseminated to public through scientific conferences and a peer-reviewed journal. Written informed consents will be obtained from participants. TRIAL REGISTRATION NUMBER: ChiCTR2100045739.


Assuntos
Transtornos Cromossômicos , Variações do Número de Cópias de DNA , Aneuploidia , Feminino , Humanos , Estudos Multicêntricos como Assunto , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Estudos Prospectivos
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