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1.
Environ Sci Technol ; 58(22): 9636-9645, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38770702

RESUMO

Dissemination of antibiotic resistance genes (ARGs) in urban water bodies has become a significant environmental and health concern. Many approaches based on real-time quantitative PCR (qPCR) have been developed to offer rapid and highly specific detection of ARGs in water environments, but the complicated and time-consuming procedures have hindered their widespread use. Herein, we developed a facile one-step approach for rapid detection of ARGs by leveraging the trans-cleavage activity of Cas12a and recombinase polymerase amplification (RPA). This efficient method matches the sensitivity and specificity of qPCR and requires no complex equipment. The results show a strong correlation between the prevalence of four ARG markers (ARGs: sul1, qnrA-1, mcr-1, and class 1 integrons: intl1) in tap water, human urine, farm wastewater, hospital wastewater, municipal wastewater treatment plants (WWTPs), and proximate natural aquatic ecosystems, indicating the circulation of ARGs within the urban water cycle. Through monitoring the ARG markers in 18 WWTPs in 9 cities across China during both peak and declining stages of the COVID epidemic, we found an increased detection frequency of mcr-1 and qnrA-1 in wastewater during peak periods. The ARG detection method developed in this work may offer a useful tool for promoting a sustainable urban water cycle.


Assuntos
Resistência Microbiana a Medicamentos , Resistência Microbiana a Medicamentos/genética , Águas Residuárias , Humanos , Monitoramento Ambiental/métodos , Cidades , China , COVID-19
2.
Environ Pollut ; 351: 124079, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38692390

RESUMO

With the application of engineered nanomaterials and antibiotics in the fields of medicine, aerospace, new energy and agriculture, the associated contamination is detected widely in soil-groundwater systems. It is of great scientific and practical significance to deeply explore the environmental interface process between nanoparticles and antibiotics for the scientific assessment of environmental fate and ecological environmental risks, as well as the development of new composite pollution control technologies. In this study, the co-transport behaviors of positively charged titanium dioxide nanoparticles (TiO2-NPs) and negatively charged levofloxacin (LEV) in quartz sand (QS) are investigated in this study. The results show that TiO2-NPs hardly flow out when transported alone in the column because of its positive charge, which creates a strong attraction with the negatively charged quartz sand on the surface. When TiO2-NPs co-migrate with LEV in porous media, the presence of LEV promotes the transport of TiO2-NPs, while the presence of TiO2-NPs inhibits LEV transport. Non-XDLVO interactions based on molecular dynamics (MD) simulations can help explain the observed promotion and inhibition phenomena as well as the correlation between TiO2-NPs and LEV. The results indicate that TiO2-LEV complexes or aggregates can be formed during the co-transportation process of TiO2-NPs and LEV in porous media. As flow velocity increases from 0.204 cm min-1 to 1.630 cm min-1, both the transport capacities of TiO2-NPs and LEV are enhanced significantly. Under the condition of high citric acid (CA) concentration (15 mmol L-1), the transport capacity of TiO2-NPs is slightly inhibited, while the transport capacity of LEV is enhanced. This study provides new insights into the transport of nanometallic oxides and antibiotics in porous media, which suggests that non-XDLVO interactions should be considered together when assessing the environmental risks and fate of nanometallic oxides and antibiotics in soil-groundwater systems.


Assuntos
Levofloxacino , Titânio , Titânio/química , Levofloxacino/química , Porosidade , Nanopartículas/química , Antibacterianos/química , Poluentes Químicos da Água/química , Poluentes do Solo/química , Nanopartículas Metálicas/química , Água Subterrânea/química , Simulação de Dinâmica Molecular
3.
ACS Synth Biol ; 13(6): 1941-1951, 2024 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-38780992

RESUMO

Electroactive bacteria, exemplified by Shewanella oneidensis MR-1, have garnered significant attention due to their unique extracellular electron-transfer (EET) capabilities, which are crucial for energy recovery and pollutant conversion. However, the practical application of MR-1 is constrained by its EET efficiency, a key limiting factor, due to the complexity of research methodologies and the challenges associated with the practical use of gene editing tools. To address this challenge, a novel gene integration system, INTEGRATE, was developed, utilizing CRISPR-mediated transposase technologies for precise genomic insertion within the S. oneidensis MR-1 genome. This system facilitated the insertion of extensive gene segments at different sites of the Shewanella genome with an efficiency approaching 100%. The inserted cargo genes could be kept stable on the genome after continuous cultivation. The enhancement of the organism's EET efficiency was realized through two primary strategies: the integration of the phenazine-1-carboxylic acid synthesis gene cluster to augment EET efficiency and the targeted disruption of the SO3350 gene to promote anodic biofilm development. Collectively, our findings highlight the potential of utilizing the INTEGRATE system for strategic genomic alterations, presenting a synergistic approach to augment the functionality of electroactive bacteria within bioelectrochemical systems.


Assuntos
Sistemas CRISPR-Cas , Shewanella , Transposases , Shewanella/genética , Shewanella/metabolismo , Transporte de Elétrons , Transposases/genética , Transposases/metabolismo , Sistemas CRISPR-Cas/genética , Edição de Genes/métodos , Genoma Bacteriano , Biofilmes , Fontes de Energia Bioelétrica/microbiologia
4.
Foods ; 13(3)2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38338638

RESUMO

The seeds of various Trichosanthes L. plants have been frequently used as snacks instead of for traditional medicinal purposes in China. However, there is still a need to identify the species based on seeds from Trichosanthes germplasm for the potential biological activities of their seed oil. In this study, 18 edible Trichosanthes germplasm from three species were identified and distinguished at a species level using a combination of seed morphological and microscopic characteristics and nrDNA-ITS sequences. Seed oil from the edible Trichosanthes germplasm significantly enhanced oxidative stress tolerance, extended lifespan, delayed aging, and improved healthspan in Caenorhabditis elegans. The antioxidant activity of the seed oil exhibits a significant positive correlation with its total unsaturated fatty acid content among the 18 edible Trichosanthes germplasm, suggesting a genetic basis for this trait. The biological activities of seed oil varied among species, with T. kirilowii Maxim. and T. rosthornii Harms showing stronger effects than T. laceribractea Hayata.

5.
J Environ Manage ; 352: 120022, 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38198836

RESUMO

Organic contaminated sites have gained significant attention as a prominent contributor to shallow groundwater contamination. However, limited knowledge exists regarding the impact of hydrodynamic effects on microbially mediated contaminant degradation at such sites. In this study, we investigated the distribution characteristics and community structure of prokaryotic microorganisms at the selected site during both wet and dry seasons, with a particular focus on their environmental adaptations. The results revealed significant seasonal variations (P < 0.05) in the α-diversity of prokaryotes within groundwater. The dry season showed more exclusive OTUs than the wet season. The response of prokaryotic metabolism to organic pollution pressure in different seasons was explored by PICRUSt2, and enzymes associated with the degradation of organic pollutants were identified based on the predicted functions. The results showed that hormesis was considered as an adaptive response of microbial communities under pollution stress. In addition, structural equation models demonstrated that groundwater level fluctuations can, directly and indirectly, affect the abundance and diversity of prokaryotes through other factors such as oxidation reduction potential (ORP), dissolved oxygen (DO), and naphthalene (Nap). Overall, our findings imply that the taxonomic composition and functional properties of prokaryotes in groundwater in organic contaminated sites is influenced by the interaction between seasonal variations and characteristics of organic pollution. The results provide new insights into microbiological processes in groundwater systems in organic contaminated sites.


Assuntos
Água Subterrânea , Microbiota , Água Subterrânea/química , Poluição Ambiental/análise
6.
Biotechnol Bioeng ; 121(3): 980-990, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38088435

RESUMO

Bacteria capable of direct ammonia oxidation (Dirammox) play important roles in global nitrogen cycling and nutrient removal from wastewater. Dirammox process, NH3 → NH2 OH → N2 , first defined in Alcaligenes ammonioxydans HO-1 and encoded by dnf gene cluster, has been found to widely exist in aquatic environments. However, because of multidrug resistance in Alcaligenes species, the key genes involved in the Dirammox pathway and the interaction between Dirammox process and the physiological state of Alcaligenes species remain unclear. In this work, ammonia removal via the redistribution of nitrogen between Dirammox and microbial growth in A. ammonioxydans HO-1, a model organism of Alcaligenes species, was investigated. The dnfA, dnfB, dnfC, and dnfR genes were found to play important roles in the Dirammox process in A. ammonioxydans HO-1, while dnfH, dnfG, and dnfD were not essential genes. Furthermore, an unexpected redistribution phenomenon for nitrogen between Dirammox and cell growth for ammonia removal in HO-1 was revealed. After the disruption of the Dirammox in HO-1, more consumed NH4 + was recovered as biomass-N via rapid metabolic response and upregulated expression of genes associated with ammonia transport and assimilation, tricarboxylic acid cycle, sulfur metabolism, ribosome synthesis, and other molecular functions. These findings deepen our understanding of the molecular mechanisms for Dirammox process in the genus Alcaligenes and provide useful information about the application of Alcaligenes species for ammonia-rich wastewater treatment.


Assuntos
Compostos de Amônio , Compostos de Amônio/metabolismo , Alcaligenes/genética , Alcaligenes/metabolismo , Amônia/toxicidade , Amônia/metabolismo , Águas Residuárias , Nitrogênio/metabolismo , Desnitrificação , Oxirredução , Reatores Biológicos
7.
ACS Synth Biol ; 12(11): 3454-3462, 2023 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-37856147

RESUMO

Polyhydroxybutyrate (PHB) is an attractive biodegradable polymer that can be produced through the microbial fermentation of organic wastes or wastewater. However, its mass production has been restricted by the poor utilization of organic wastes due to the presence of inhibitory substances, slow microbial growth, and high energy input required for feedstock sterilization. Here, Vibrio natriegens, a fast-growing bacterium with a broad substrate spectrum and high tolerance to salt and toxic substances, was genetically engineered to enable efficient PHB production from nonsterilized fermentation of organic wastes. The key genes encoding the PHB biosynthesis pathway of V. natriegens were identified through base editing and overexpressed. The metabolically engineered strain showed 166-fold higher PHB content (34.95 wt %) than the wide type when using glycerol as a substrate. Enhanced PHB production was also achieved when other sugars were used as feedstock. Importantly, it outperformed the engineered Escherichia coli MG1655 in PHB productivity (0.053 g/L/h) and tolerance to toxic substances in crude glycerol, without obvious activity decline under nonsterilized fermentation conditions. Our work demonstrates the great potential of engineered V. natriegens for low-cost PHB bioproduction and lays a foundation for exploiting this strain as a next-generation model chassis microorganism in synthetic biology.


Assuntos
Glicerol , Poli-Hidroxibutiratos , Vibrio , Glicerol/metabolismo , Fermentação , Hidroxibutiratos/metabolismo
8.
PeerJ Comput Sci ; 9: e1535, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37705622

RESUMO

Background: Due to various factors such as the increasing aging of the population and the upgrading of people's health consumption needs, the demand group for rehabilitation medical care is expanding. Currently, China's rehabilitation medical care encounters several challenges, such as inadequate awareness and a scarcity of skilled professionals. Enhancing public awareness about rehabilitation and improving the quality of rehabilitation services are particularly crucial. Named entity recognition is an essential first step in information processing as it enables the automated extraction of rehabilitation medical entities. These entities play a crucial role in subsequent tasks, including information decision systems and the construction of medical knowledge graphs. Methods: In order to accomplish this objective, we construct the BERT-Span model to complete the Chinese rehabilitation medicine named entity recognition task. First, we collect rehabilitation information from multiple sources to build a corpus in the field of rehabilitation medicine, and fine-tune Bidirectional Encoder Representation from Transformers (BERT) with the rehabilitation medicine corpus. For the rehabilitation medicine corpus, we use BERT to extract the feature vectors of rehabilitation medicine entities in the text, and use the span model to complete the annotation of rehabilitation medicine entities. Result: Compared to existing baseline models, our model achieved the highest F1 value for the named entity recognition task in the rehabilitation medicine corpus. The experimental results demonstrate that our method outperforms in recognizing both long medical entities and nested medical entities in rehabilitation medical texts. Conclusion: The BERT-Span model can effectively identify and extract entity knowledge in the field of rehabilitation medicine in China, which supports the construction of the knowledge graph of rehabilitation medicine and the development of the decision-making system of rehabilitation medicine.

9.
Chemosphere ; 338: 139506, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37453519

RESUMO

In this study, a combination of column experiments, interface chemistry theory and transport model with two-site kinetics was used to systematically investigate the effect of pH on the transport of polystyrene nanoparticles (PSNPs) in porous media. The porous media containing quartz sand (QS) and three kinds of clay minerals (CMs)-kaolinite (KL), illite (IL) and montmorillonite (MT), was used in column experiments to simulate the porous media in the soil-groundwater systems. Experimental results showed that the inhibitory effect of CMs on the transport of PSNPs is weakened as pH increases. The two-dimensional (2D) surface of the DLVO interaction energy (2D-pH-DLVO) was built to calculate the interactions between PSNPs and CMs under different conditions of pH. Results suggested the inflection point of PSNP-QS, PSNP-KL, PSNP-IL and PSNP-MT are 2.42, 3.30, 2.84 and 3.69, respectively. Most importantly, there was a significant correlation between the two-site kinetic parameters related to PSNPs transport and the DLVO energy barrier (DB). The contributions of the interactions of PSNPs-PSNPs and PSNPs-minerals were determined for PSNPs transport in porous media. The critical values of pH related to the migration ability of PSNPs in porous media could be determined by a combination of column experiments, 2D-pH-DLVO and PSNPs transport model. The critical values of pH were 2.95-3.01, 3.22-3.51, 2.98-3.02, 3.31-3.33 for the migration ability of PSNPs in QS, QS + KL, QS + IL and QS + MT porous media, respectively. The stronger migration ability of PSNPs under high pH conditions is attributed to the enhanced deprotonation of the media surface and increased negative surface charge, which increases the electrostatic repulsion between PSNPs and porous media (QS, CMs). Moreover, the agglomeration of PSNPs usually is weaker and the average particle size of agglomerates is smaller under the condition of high pH, thus leading to the stronger migration ability of PSNPs under high pH conditions.


Assuntos
Microplásticos , Poliestirenos , Porosidade , Cinética , Quartzo , Minerais , Areia , Argila , Caulim
10.
Chem Commun (Camb) ; 59(50): 7831-7834, 2023 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-37272849

RESUMO

Copper-catalyzed asymmetric dearomative azidation of tryptamines using azidobenziodoxolone as an azidating reagent was developed, which affords a variety of 3a-azido-pyrroloindolines in good to high enantioselectivities under mild reaction conditions. The azides could be readily transformed into the corresponding 3a-amino-pyrroloindolines via reduction and 1,2,3-triazole derivatives via a click reaction.

11.
Biotechnol Bioeng ; 120(10): 3001-3012, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37209207

RESUMO

Geobacter species, exhibiting exceptional extracellular electron transfer aptitude, hold great potential for applications in pollution remediation, bioenergy production, and natural elemental cycles. Nonetheless, a scarcity of well-characterized genetic elements and gene expression tools constrains the effective and precise fine-tuning of gene expression in Geobacter species, thereby limiting their applications. Here, we examined a suite of genetic elements and developed a new genetic editing tool in Geobacter sulfurreducens to enhance their pollutant conversion capacity. First, the performances of the widely used inducible promoters, constitutive promoters, and ribosomal binding sites (RBSs) elements in G. sulfurreducens were quantitatively evaluated. Also, six native promoters with superior expression levels than constitutive promoters were identified on the genome of G. sulfurreducens. Employing the characterized genetic elements, the clustered regularly interspaced short palindromic repeats interference (CRISPRi) system was constructed in G. sulfurreducens to achieve the repression of an essential gene-aroK and morphogenic genes-ftsZ and mreB. Finally, applying the engineered strain to the reduction of tungsten trioxide (WO3 ), methyl orange (MO), and Cr(VI), We found that morphological elongation through ftsZ repression amplified the extracellular electron transfer proficiency of G. sulfurreducens and facilitated its contaminant transformation efficiency. These new systems provide rapid, versatile, and scalable tools poised to expedite advancements in Geobacter genomic engineering to favor environmental and other biotechnological applications.


Assuntos
Poluentes Ambientais , Geobacter , Geobacter/genética , Poluentes Ambientais/metabolismo , Transporte de Elétrons , Expressão Gênica , Oxirredução
12.
Sci Adv ; 9(17): eadg0654, 2023 04 28.
Artigo em Inglês | MEDLINE | ID: mdl-37115931

RESUMO

Immune-responsive gene 1 (IRG1) encodes aconitate decarboxylase (ACOD1) that catalyzes the production of itaconic acids (ITAs). The anti-inflammatory function of IRG1/ITA has been established in multiple pathogen models, but very little is known in cancer. Here, we show that IRG1 is expressed in tumor-associated macrophages (TAMs) in both human and mouse tumors. Mechanistically, tumor cells induce Irg1 expression in macrophages by activating NF-κB pathway, and ITA produced by ACOD1 inhibits TET DNA dioxygenases to dampen the expression of inflammatory genes and the infiltration of CD8+ T cells into tumor sites. Deletion of Irg1 in mice suppresses the growth of multiple tumor types and enhances the efficacy of anti-PD-(L)1 immunotherapy. Our study provides a proof of concept that ACOD1 is a potential target for immune-oncology drugs and IRG1-deficient macrophages represent a potent cell therapy strategy for cancer treatment even in pancreatic tumors that are resistant to T cell-based immunotherapy.


Assuntos
Neoplasias , Macrófagos Associados a Tumor , Humanos , Animais , Camundongos , Macrófagos Associados a Tumor/metabolismo , Linfócitos T CD8-Positivos/metabolismo , Macrófagos/metabolismo , Imunoterapia , Neoplasias/genética , Neoplasias/terapia , Neoplasias/metabolismo , Hidroliases/genética
13.
Environ Sci Technol ; 57(17): 6876-6887, 2023 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-37083356

RESUMO

Plastics-microorganism interactions have aroused growing environmental and ecological concerns. However, previous studies concentrated mainly on the direct interactions and paid little attention to the ecotoxicology effects of phthalates (PAEs), a common plastic additive that is continuously released and accumulates in the environment. Here, we provide insights into the impacts of PAEs on the dissemination of antibiotic resistance genes (ARGs) among environmental microorganisms. Dimethyl phthalate (DMP, a model PAE) at environmentally relevant concentrations (2-50 µg/L) significantly boosted the plasmid-mediated conjugation transfer of ARGs among intrageneric, intergeneric, and wastewater microbiota by up to 3.82, 4.96, and 4.77 times, respectively. The experimental and molecular dynamics simulation results unveil a strong interaction between the DMP molecules and phosphatidylcholine bilayer of the cell membrane, which lowers the membrane lipid fluidity and increases the membrane permeability to favor transfer of ARGs. In addition, the increased reactive oxygen species generation and conjugation-associated gene overexpression under DMP stress also contribute to the increased gene transfer. This study provides fundamental knowledge of the PAE-bacteria interactions to broaden our understanding of the environmental and ecological risks of plastics, especially in niches with colonized microbes, and to guide the control of ARG environmental spreading.


Assuntos
Antibacterianos , Bactérias , Antibacterianos/farmacologia , Resistência Microbiana a Medicamentos/genética , Bactérias/genética , Genes Bacterianos , Plásticos , Transferência Genética Horizontal
14.
Arch Microbiol ; 205(3): 98, 2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36853446

RESUMO

Ophiocordyceps sinensis Berk. is a fungal parasite that parasitizes the larvae of Hepialidae and is endemic to the Qinghai-Tibet Plateau (QTP). The phylogeny and divergence time of O. sinensis and its host insects were analyzed for 137 individuals from 48 O. sinensis populations based on the elongation factor 1 alpha (EF-1α) gene. Lower nucleotide variation, with only 7 and 16 EF-1α haplotypes, was detected in O. sinensis and its host insects, respectively. The isolated and broad distribution patterns coexisted in both O. sinensis and its host insects on the QTP. The divergence time estimates show that O. sinensis and its host insects originated later than 14.33 million years (Myr) and earlier than 23.60 Myr in the Miocene period, and the major differentiation occurred later than 4 Myr. Their origin and differentiation match well with the second and third uplifts of the QTP, respectively. The host insects from the O. sinensis populations distributed around Qinghai Lake are inferred as an ancient and relict species that has survived various geological events of the QTP. It is suitable to estimate the divergence times of both O. sinensis and its host insects from the same individuals using one gene: EF-1α. Our findings of the origin, phylogeny, and evolution of the endemic species also support the epoch of geological events on the QTP.


Assuntos
Cordyceps , Insetos , Fator 1 de Elongação de Peptídeos , Animais , Cordyceps/genética , Insetos/microbiologia , Larva , Fator 1 de Elongação de Peptídeos/genética , Filogenia
15.
Zhongguo Gu Shang ; 36(1): 38-42, 2023 Jan 25.
Artigo em Chinês | MEDLINE | ID: mdl-36653004

RESUMO

OBJECTIVE: To observe the clinical efficacy of targeted sealing with high viscosity bone cement and secondary injection of low viscosity bone cement in the treatment of OVCFs patients with the fracture lines involved vertebral body margin. METHODS: The elderly patients who underwent vertebroplasty for osteoporotic vertebral compression fractures from January 2019 to September 2021 were selected as the screening objects. Through relevant standards and further CT examination, 56 patients with fracture lines involving the anterior wall or upper and lower endplates of the vertebral body were selected for the study. There were 21 males and 35 females, aged from 67 to 89 years old with an average of (76.58±9.68) years. All 56 patients underwent secondary injection of bone cement during operation. Only a small amount of high viscosity cement was targeted to seal the edge of the vertebral body for the first time, and low viscosity cement was injected to the vertebral bodies during second bolus with well-distributed. The operation time, bone cement volume and bone cement leakage were recorded, and the pain relief was evaluated by visual analogue scale (VAS). RESULTS: All patients were followed up for more than 3 months and the surgeries were successfully complete. The operation time was (50.41±10.30) min and the bone cement volume was (3.64±1.29) ml. The preoperative VAS was (7.21±2.41) points, which decreased significantly to (2.81±0.97) points 3 days after operation(P<0.05). Among the 56 patients, 2 cases(3.57%) had bone cement leakage, 1 case leaked to the paravertebral vein, and 1 case slightly bulged to the paravertebral through the crack when plugging the vertebral crack. Both patients had no obvious clinical symptoms. CONCLUSION: In vertebroplasty surgery, targeted sealing of high viscosity bone cement and secondary injection of low viscosity bone cement can reduce intraoperative bone cement leakage and improve the safety of operation.


Assuntos
Fraturas por Compressão , Fraturas por Osteoporose , Fraturas da Coluna Vertebral , Vertebroplastia , Masculino , Feminino , Humanos , Idoso , Idoso de 80 Anos ou mais , Cimentos Ósseos/uso terapêutico , Fraturas por Compressão/cirurgia , Fraturas por Compressão/etiologia , Fraturas da Coluna Vertebral/cirurgia , Viscosidade , Fraturas por Osteoporose/cirurgia , Estudos Retrospectivos , Vertebroplastia/efeitos adversos , Resultado do Tratamento
16.
Chinese Journal of Dermatology ; (12): 672-676, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-994520

RESUMO

Objective:To report a patient with congenital hypotrichosis 14 complicated by hypergonadotropic hypogonadism, and to analyze LSS gene mutations in his family.Methods:Peripheral blood samples were collected from the proband and his parents with normal phenotypes, and genomic DNA was extracted from these samples. Second-generation sequencing was performed to screen suspected mutations among hereditary hair disorder-associated genes. Possible causative genes were identified from the screened suspected variants based on clinical phenotypes, and verified using Sanger sequencing. The identified variants were also verified in healthy controls, and searched in the Human Gene Mutation Database, 1000 Genomes Project database, and ExAC database.Results:The patient harbored a homozygous missense mutation c.812T>C (p.Ile271Thr) in exon 8 of the LSS gene, and his parents were the mutation carriers. The variant was not present in healthy controls and databases.Conclusion:The homozygous mutation c.812T>C in the LSS gene may be the causative mutation for congenital hypotrichosis 14 in this family, which was a novel mutation that had not been reported before.

17.
Journal of Modern Urology ; (12): 764-769, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1005990

RESUMO

【Objective】 To compare the efficacy and safety of thulium laser enucleation of the prostate (ThULEP) and holmium laser enucleation of the prostate (HoLEP) in the treatment of benign prostatic hyperplasia (BPH). 【Methods】 Randomized controlled trials (RCTs) and clinical controlled trials (CCTs) were searched in PubMed, Embase, Cochrane Library, CNKI and Wanfang Database from Jan.1,2010 to May 30,2022. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies. All divergences were resolved by a third researcher. RevMan 5.4 software was used for Meta analysis. 【Results】 A total of 7 studies were included, involving 1 726 patients, 750 in the ThULEP group and 976 in the HoLEP group. Meta analysis showed that, compared with HoLEP group, the ThULEP group had shorter catheter indwelling time [MD=-0.10, 95%CI (-0.17--0.03), P=0.004] , shorter hospital stay [MD=-0.43, 95%CI (-0.60--0.25), P<0.000 01] , lower IPSS score 12 months after surgery [MD=-1.13, 95%CI (-1.95- -0.30), P=0.007] , lower QoL score 12 months after surgery [MD=-1.00, 95%CI (-1.19- -0.81), P<0.001] ,lower transfusion rate [OR=0.11, 95%CI (0.03-0.36), P=0.000 3] and lower incidence of urinary incontinence [OR=0.24, 95%CI (0.09-0.66), P=0.006] . 【Conclusion】 ThULEP may have similar efficacy and safety as HoLEP in the treatment of BPH, and has more advantages in some aspects.

18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-996990

RESUMO

@#Implantable left ventricular assist device (LVAD) has become an essential treatment for end-stage heart failure, and its effect has been continuously improved. In the world, magnetic levitation LVAD has become mainstream and is increasingly used as a destination treatment. China has also entered the era of ventricular assist device. The continuous improvement of the ventricular assist device will further improve the treatment effect. This article reviews the current situation and development trend of LVAD treatment in China and abroad.

19.
Chinese Journal of Trauma ; (12): 435-442, 2023.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-992620

RESUMO

Objective:To compare the clinical effect of "de-sharpening" intramedullary elastic reduction with Kirschner wire and traditional three-dimensional manipulation for the treatment of Gartland type III posterolaterally-displaced supracondylar humerus fracture in children.Methods:A retrospective cohort analysis was made on 106 children with Gartland type III posterolaterally-displaced supracondylar humerus fracture treated in Anhui Provincial Children′s Hospital from March 2020 to June 2022, including 58 males and 48 females; aged 1-12 years [(8.7±2.3)years]. The patients were assigned to "de-sharpening" intramedullary elastic reduction with Kirschner wire (study group, n=50) and traditional three-dimensional manipulation (control group, n=56). The operation time, frequency of intraoperative fluoroscopy, fracture healing time, difference of Baumann angle between the normal and injured side at postoperative 3 and 6 months, elbow function Flynn score at last follow-up and complications were compared between the two groups. Results:All children were followed up for 6-12 months [(8.5±1.2)months]. The operation time and frequency of intraoperative fluoroscopy were (32.9±3.7)minutes and (20.6±5.4)times in study group, significantly different from (45.6±10.1)minutes and (32.5±8.2)times in control group (all P<0.05). The fracture healing time was (33.0±5.1)days in study group, similar with (33.8±4.7)days in control group ( P>0.05). At 3 and 6 months after operation, the difference of Baumann angle between the normal and injured side was (3.2±0.8)°and (2.3±0.6)°in study group compared to (6.0±2.1)°and (5.8±1.3)°in control group (all P<0.01). According to the elbow function Flynn score at the last follow-up, the results were excellent in 44 children, good in 5 and fair in 1, with the excellent and good rate of 98.0% (49/50) in study group, and were excellent in 47 children, good in 5 and fair in 4, with the excellent and good rate of 92.9% (52/56) in control group ( P>0.05). There were no following complications in both groups, such as osteomyelitis, poor fracture healing, compartment syndrome, iatrogenic neurovascular injury or myositis ossificans. Conclusions:Both "de-sharpening" intramedullary elastic reduction with Kirschner wire and traditional three-dimensional manipulation for the treatment of Gartland type III posterolaterally-displaced supracondylar humerus fracture in children can achieve elbow joint function recovery, with low incidence of complications. However, the former avoids repeated manual reduction, with shorter operation time, less frequency of intraoperative fluoroscopy and better correction of the coronal plane deformity and rotation deformity.

20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-987109

RESUMO

@#Ferroptosis is a novel iron-dependent mode of programmed cell death characterized by iron deposition and accumulation of lipid peroxidation. More and more studies have found that ferroptosis is closely related to the pathogenesis of type 2 diabetes mellitus (T2DM). The yin-fire theory is an important part of LI Gao's spleen-stomach theory, and it is believed that qi-fire imblance and yin-fire internal generation is the main pathogenesis of T2DM. Abnormal iron metabolism may be an important prerequisite for T2DM yin-fire internal generation, while oxidative stress is the specific manifestation of T2DM qi-fire imbalance. Reactive oxygen species (ROS) is the end product of qi-fire imbalance, and lipid peroxide is the pathological products of T2DM yin-fire internal generation. This study intends to explore the pathological mechanism of qi-fire imbalance and yin-fire internal generation from the perspectives of iron metabolism, oxidative stress and lipid peroxidation, enriching the modern connotation of yin-fire theory, and benefiting traditional Chinese medicine to target against ferroptosis, and prevent and treat T2DM precisely.

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