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1.
Int J Biol Macromol ; 218: 1-8, 2022 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-35792312

RESUMO

Polycaprolactone (PCL) nanofibers have become an ideal material for bone tissue engineering due to a series of advantages. Considering the clinical treatment of bone defects, in addition to meeting the golden standard, PCL based nanofibers also need to be multifunctional to anti-inflammatory, antibacterial properties, and enhance the bone regeneration and repair. Herein, we successfully developed the multifunctional PCL/LIG/ZIF-8 composite nanofibers by loading ZIF-8 on electrospun PCL/lignin (PCL/LIG) nanofibers. The prepared composite nanofibers exhibit fairly good wettability and acceptable degradation rate, as well as excellent antioxidative stress and antibacterial properties originating from the incorporated LIG and loaded ZIF-8. Moreover, owing to the synergistic effect of LIG and ZIF-8, the composite nanofibers present excellent osteogenic differentiation, which can be verified in biomineralization experiments and real-time quantitative polymerase chain reaction. These results indicate that the PCL/LIG/ZIF-8 composite nanofibers, as potential healthcare candidate, have a promising applied in the treatment of bone defects.

2.
J Integr Plant Biol ; 2022 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-35652263

RESUMO

Arabidopsis MITOGEN-ACTIVATED PROTEIN KINASE3 (MAPK3 or MPK3) and MPK6 play important signaling roles in plant immunity and growth/development. MAPK KINASE4 (MKK4) and MKK5 function redundantly upstream of MPK3 and MPK6 in these processes. YODA (YDA), also known as MAPK KINASE KINASE4 (MAPKKK4), is upstream of MKK4/MKK5 and forms a complete MAPK cascade (YDA-MKK4/MKK5-MPK3/MPK6) in regulating plant growth and development. In plant immunity, MAPKKK3 and MAPKKK5 function redundantly upstream of the same MKK4/MKK5-MPK3/MPK6 module. However, the residual activation of MPK3/MPK6 in the mapkkk3 mapkkk5 double mutant in response to flg22 pathogen-associated molecular pattern (PAMP) treatment suggests the presence of additional MAPKKK(s) in this MAPK cascade in signaling plant immunity. To investigate whether YDA is also involved in plant immunity, we attempted to generate mapkkk3 mapkkk5 yda triple mutants. However, it was not possible to recover one of the double mutant combinations (mapkkk5 yda) or the triple mutant (mapkkk3 mapkkk5 yda) due to a failure of embryogenesis. Using the clustered regularly interspaced short palindromic repeats (CRISPR) - CRISPR-associated protein 9 (Cas9) approach, we generated weak, N-terminal deletion alleles of YDA, yda-del, in a mapkkk3 mapkkk5 background. PAMP-triggered MPK3/MPK6 activation was further reduced in the mapkkk3 mapkkk5 yda-del mutant, and the triple mutant was more susceptible to pathogen infection, suggesting YDA also plays an important role in plant immune signaling. In addition, MAPKKK5 and, to a lesser extent, MAPKKK3 were found to contribute to gamete function and embryogenesis, together with YDA. While the double homozygous mapkkk3 yda mutant showed the same growth and development defects as the yda single mutant, mapkkk5 yda double mutant and mapkkk3 mapkkk5 yda triple mutants were embryo lethal, similar to the mpk3 mpk6 double mutants. These results demonstrate that YDA, MAPKKK3, and MAPKKK5 have overlapping functions upstream of the MKK4/MKK5-MPK3/MPK6 module in both plant immunity and growth/development.

3.
Materials (Basel) ; 15(8)2022 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-35454447

RESUMO

Recent studies have shown that the introduction of silicon can effectively improve the dielectric properties of polyimide (PI), and the introduction of a silicon-oxygen bond can increase the flexibility of the PI molecular structure, which is conducive to reducing the moisture absorption rate of PI materials. In this experiment, 1,3-bis(3-aminopropyl)-1,1,3,3-tetramethyl disiloxane (DSX) was mixed with 4,4'-diaminodiphenyl ether (ODA) in different proportions. A series of PI films containing silicon was obtained by random polymerization with pyromellitic dianhydride (PMDA), 3,3',4,4'-diphenylketotetrahedral anhydride (BTDA) and biphenyl dianhydride (BPDA), and then tetrad copolymerization with three kinds of dianhydrides. At the same time, the PI structures were put into calculation software to obtain the simulated polarization results, and then the films were characterized by various properties. The results showed that the characterization results were consistent with that of simulation, and the best overall PI formula was when the ratio of diamines was 1:9 and mixed with PMDA. The performance data were as follows: the vitrification temperature was about 320 °C, T5 was 551 °C, water absorption was 1.56%, dielectric constant (Dk) was 2.35, dielectric loss (Df) was 0.007, tensile strength was 70 MPa and elongation at break was 10.2%.

4.
Front Chem ; 10: 835455, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35198540

RESUMO

How to construct a functional unit for heat storage by using biomass materials is significant for the exploration of phase change materials (PCMs). In this work, we try to design and construct a functional unit for heat storage by employing a vacuum impregnation method to prepare sugarcane-based shape stabilized phase change materials (SSPCMs) for improving the thermal conductivity of phase change materials (PCMs) and preventing the liquid state leakage of PCMs. The morphologies of the prepared materials are characterized by Scanning electron microscope (SEM) as containing a unique channel structure which is viewed as the key factor for heat storage. X-ray diffractometry (XRD), Fourier transform infrared spectroscopy (FT-IR), and thermogravimetric analysis (TGA) were used to characterize the prepared materials. The results indicated that no chemical reaction occurred between PEG and sugarcane-based biomass during the preparation process and SSPCMs showed great thermal stability. Their thermal properties are measured by using the differential scanning calorimetry (DSC) characterization and show a high melting enthalpy of 140.04 J/g and 94.84% of the relative enthalpy efficiency, illustrating the excellent shape stabilized phase change behavior. Moreover, the highest thermal conductivity of SSPCMs is up to 0.297 W/(mK), which is 28.02% higher than that of the pristine PEG. The excellent capability for thermal energy storage is attributed to the directional thermal conduction skeletons and perfect open channels and the unique anisotropic three-dimensional structure of the SSPCMs. Hence, the unique structure with PEG is testified as the functional unit for heat storage. Comprehensively considering the excellent properties of sugarcane-based materials-providing cheap raw materials via green preparation-it is conceived that sugarcane-based materials could be applied in many energy-related devices with reasonable function unit design.

5.
Front Genet ; 13: 772143, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35140748

RESUMO

Background: Oocyte maturation arrest is a disease that produces immature oocytes and cannot be mature after culturing in vitro, which leads to female primary infertility. We aimed to summarize nine representative patients in our center to retrospectively analyze the genetic variants and clinical characteristics of oocyte maturation arrest. Methods: This study examined and analyzed nine families with oocyte maturation arrest. Whole-exome sequencing (WES) of the probands was performed to detect the pathogenic variants. Sanger sequencing verified the WES findings in patients and available parents. ExAC database was used to search the variant frequency. The variants were assessed by pathogenicity and conservational property prediction analysis and according to the American College of Medical Genetics and Genomics (ACMG). Phenotypes of oocytes were evaluated by a light microscopy, and the phenotype-genotype correlation was also evaluated. Results: Nine pathogenic variants in five genes were detected in nine patients, of which three were novel variants, including PATL2 [c.1374A > G (p. Ile458Met)] and [1289-1291del TCC (p. Leu430del)] and ZP2 [c.1543C > T (p. Pro515Ser)]. Nine variants were predicted to be pathogenic, resulting in different types of oocyte maturation arrest and clinical phenotypes. Conclusion: Three novel pathogenic variants were identified, enabling the expansion of the gene variant spectrum. The related pathogenic mutations of the PATL2, TUBB8, and ZP1∼3 genes were highly suggestive of being causative of oocyte maturation arrest.

6.
J Colloid Interface Sci ; 608(Pt 1): 830-839, 2022 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-34689112

RESUMO

HYPOTHESIS: The intricate entropy-enthalpy interplay of dendrimers confined in pores affects their conformation and retention in the porous stationary phase. This work aims at providing important insights into its impacts on partitioning and chromatographic separation in both size-exclusion chromatography (SEC) and interaction chromatography (IC) regimes. SIMULATIONS: Using Monte Carlo (MC) simulations, we investigated the bulk-pore phase equilibria and the conformational behavior of flexible dendrimers differing in generation, in spacer length and in fraction of modified terminal groups interacting differently with pore walls than the majority building units. FINDINGS: With increasing interaction strength, a distinct transition from a roughly spherical shape caused by simultaneous interactions with two walls to an ellipsoidal (or even disklike) conformation tenaciously adhering to only one wall was observed for moderately confined dendrimers. The strongly deformed dendrimers subjected to severe confinement gain high energy and the samples differing in the degree of modification become chromatographically discernable thanks to large energy differences. Consequently, our results suggest that the column fillings with fairly narrow pores which are ineffective in SEC, are highly efficient separation media for dendrimer studies by IC above the critical adsorption point (CAP). Overall, our simulations reveal useful information for advancing and optimizing experimental liquid chromatography studies of dendrimers.


Assuntos
Dendrímeros , Conformação Molecular , Método de Monte Carlo , Porosidade , Termodinâmica
7.
Nat Commun ; 12(1): 7108, 2021 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-34876568

RESUMO

D-2-Hydroxyglutarate (D-2-HG) is a metabolite involved in many physiological metabolic processes. When D-2-HG is aberrantly accumulated due to mutations in isocitrate dehydrogenase or D-2-HG dehydrogenase, it functions in a pro-oncogenic manner and is thus considered a therapeutic target and biomarker in many cancers. In this study, DhdR from Achromobacter denitrificans NBRC 15125 is identified as an allosteric transcriptional factor that negatively regulates D-2-HG dehydrogenase expression and responds to the presence of D-2-HG. Based on the allosteric effect of DhdR, a D-2-HG biosensor is developed by combining DhdR with amplified luminescent proximity homogeneous assay (AlphaScreen) technology. The biosensor is able to detect D-2-HG in serum, urine, and cell culture medium with high specificity and sensitivity. Additionally, this biosensor is used to identify the role of D-2-HG metabolism in lipopolysaccharide biosynthesis of Pseudomonas aeruginosa, demonstrating its broad usages.


Assuntos
Oxirredutases do Álcool/metabolismo , Técnicas Biossensoriais , Regulação da Expressão Gênica , Glutaratos/química , Glutaratos/metabolismo , Achromobacter denitrificans/enzimologia , Achromobacter denitrificans/genética , Achromobacter denitrificans/metabolismo , Oxirredutases do Álcool/genética , Bactérias/metabolismo , Células HEK293 , Humanos , Isocitrato Desidrogenase , Redes e Vias Metabólicas , Mutação , Neoplasias , Fatores de Transcrição
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(11): 1068-1072, 2021 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-34729745

RESUMO

OBJECTIVE: To carry out preimplantation genetic testing (PGT) for a couple where the husband was affected by osteogenesis imperfecta combined with balanced translocation using the karyomapping technique. METHODS: Blastocysts were detected using karyomapping, the carrier status of COL1A1 c.760G>A (p.Gly254Arg) variant and the carrier status of the translocated chromosome were analyzed simultaneously. RESULTS: For a total of 10 blastocysts, two euploid blastocysts were found to not carry the COL1A1 c.760G>A (p.Gly254Arg) variant but a balanced translocation. After transplanting one of the blastocysts, clinical pregnancy was achieved. Amniocentesis at 18th gestational week and prenatal genetic testing was in keeping with the result of PGT.A healthy female was born at 40+4 weeks gestation. CONCLUSION: For patients simultaneously carrying genetic variant and balanced chromosomal translocation, PGT can be performed with efficiency by the use of karyomapping method.


Assuntos
Osteogênese Imperfeita , Diagnóstico Pré-Implantação , Blastocisto , Feminino , Fertilização In Vitro , Testes Genéticos , Humanos , Osteogênese Imperfeita/genética , Gravidez , Cônjuges , Translocação Genética
10.
Front Bioeng Biotechnol ; 9: 728767, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34513815

RESUMO

Pseudomonas putida KT2440 is a promising chassis of industrial biotechnology due to its metabolic versatility. Butane-2,3-diol (2,3-BDO) is a precursor of numerous value-added chemicals. It is also a microbial metabolite which widely exists in various habiting environments of P. putida KT2440. It was reported that P. putida KT2440 is able to use 2,3-BDO as a sole carbon source for growth. There are three stereoisomeric forms of 2,3-BDO: (2R,3R)-2,3-BDO, meso-2,3-BDO and (2S,3S)-2,3-BDO. However, whether P. putida KT2440 can utilize three stereoisomeric forms of 2,3-BDO has not been elucidated. Here, we revealed the genomic and enzymic basis of P. putida KT2440 for dehydrogenation of different stereoisomers of 2,3-BDO into acetoin, which will be channeled to central mechanism via acetoin dehydrogenase enzyme system. (2R,3R)-2,3-BDO dehydrogenase (PP0552) was detailedly characterized and identified to participate in (2R,3R)-2,3-BDO and meso-2,3-BDO dehydrogenation. Two quinoprotein alcohol dehydrogenases, PedE (PP2674) and PedH (PP2679), were confirmed to be responsible for (2S,3S)-2,3-BDO dehydrogenation. The function redundancy and inverse regulation of PedH and PedE by lanthanide availability provides a mechanism for the adaption of P. putida KT2440 to variable environmental conditions. Elucidation of the mechanism of 2,3-BDO catabolism in P. putida KT2440 would provide new insights for bioproduction of 2,3-BDO-derived chemicals based on this robust chassis.

11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 647-651, 2021 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-34247369

RESUMO

OBJECTIVE: To explore the genetic etiology for a fetus with congenital orofacial cleft. METHODS: Single nucleotide polymorphism microarray (SNP array) was carried out on skin tissues sampled from the fetus following induced abortion for the detection of copy number variation (CNVs). Pathogenicity of the candidate gene was validated through experiment. RESULTS: SNP array revealed that the fetus has carried a hemizygous 9.23Mb deletion at Xq21.31-q22.1(91 063 807-100 293 555), which was inherited from its mother. The region contained 13 OMIM genes and 1 ncRNA coding gene(MIR548M). Inhibiting of the expression of the MIR548M gene in oral epithelial celllines has resulted in up-regulation of the expression of SUMO1 gene which was known to involve in the pathogenesis of orofacial cleft. CONCLUSION: Dosage insufficiency of the MIR548M gene may underlie the etiology of orofacial cleft in this fetus.


Assuntos
Fenda Labial , Fissura Palatina , MicroRNAs , Fenda Labial/genética , Fissura Palatina/genética , Variações do Número de Cópias de DNA/genética , Feminino , Feto , Humanos , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único , Gravidez , Proteína SUMO-1
13.
Nat Commun ; 12(1): 3619, 2021 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-34131130

RESUMO

L-2-Hydroxyglutarate (L-2-HG) plays important roles in diverse physiological processes, such as carbon starvation response, tumorigenesis, and hypoxic adaptation. Despite its importance and intensively studied metabolism, regulation of L-2-HG metabolism remains poorly understood and none of regulator specifically responded to L-2-HG has been identified. Based on bacterial genomic neighborhood analysis of the gene encoding L-2-HG oxidase (LhgO), LhgR, which represses the transcription of lhgO in Pseudomonas putida W619, is identified in this study. LhgR is demonstrated to recognize L-2-HG as its specific effector molecule, and this allosteric transcription factor is then used as a biorecognition element to construct an L-2-HG-sensing FRET sensor. The L-2-HG sensor is able to conveniently monitor the concentrations of L-2-HG in various biological samples. In addition to bacterial L-2-HG generation during carbon starvation, biological function of the L-2-HG dehydrogenase and hypoxia induced L-2-HG accumulation are also revealed by using the L-2-HG sensor in human cells.


Assuntos
Proteínas de Bactérias/metabolismo , Técnicas Biossensoriais , Regulação da Expressão Gênica , Glutaratos/metabolismo , Proteínas de Bactérias/genética , Líquidos Corporais , Escherichia coli , Células HEK293 , Humanos , Oxirredutases/genética , Oxirredutases/metabolismo , Pseudomonas putida/genética , Fatores de Transcrição/metabolismo
14.
Angew Chem Int Ed Engl ; 60(34): 18728-18733, 2021 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-34087048

RESUMO

Saturated carbonyl compounds are, via their enolate analogues, inherently nucleophilic at the α-position. In the presence of a benzoquinone oxidant, the polarity of the α-position of racemic α-branched aldehydes is inverted, allowing for an enantioselective etherification using readily available oxygen-based nucleophiles and an amino acid-derived primary amine catalyst. A survey of benzoquinone oxidants identified p-fluoranil and DDQ as suitable reaction partners. p-Fluoranil enables the preparation of α-aryloxylated aldehydes using phenol nucleophiles in up to 91 % ee, following either a one-step or a two-step, one-pot protocol. DDQ allows for a more general etherification protocol in combination with a broader range of alcohol nucleophiles with enantioselectivities up to 95 % ee. Control experiments and isolation of a key quinol intermediate supports a mechanism proceeding via an SN 2 dynamic-kinetic resolution. These studies provide the basis for an aminocatalytic umpolung concept that allows for the asymmetric construction of tertiary ethers in the α-position of aldehydes.

15.
J Am Chem Soc ; 143(21): 8208-8220, 2021 06 02.
Artigo em Inglês | MEDLINE | ID: mdl-34028261

RESUMO

Isobenzopyrylium ions are unique, highly reactive, aromatic intermediates which are largely unexplored in asymmetric catalysis despite their high potential synthetic utility. In this study, an organocatalytic asymmetric multicomponent cascade via dienamine catalysis, involving a cycloaddition, a nucleophilic addition, and a ring-opening reaction, is disclosed. The reaction furnishes chiral tetrahydronaphthols containing four contiguous stereocenters in good to high yield, high diastereoselectivity (up to >20:1), and excellent enantioselectivity (93-98% ee). The obtained products are important synthetic intermediates, and it is demonstrated that they can be used for the generation of frameworks such as octahydrobenzo[h]isoquinoline and [2.2.2]octane scaffolds. Furthermore, mechanistic experiments involving oxygen-18-labeling studies and density functional theory calculations provide a vivid picture of the reaction mechanism. Finally, the bioactivity of 16 representative tetrahydronaphthol compounds has been evaluated in U-2OS cancer cells with some compounds showing a unique profile and a clear morphological change.

16.
J Assist Reprod Genet ; 38(8): 1997-2005, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33728612

RESUMO

PURPOSE: We aimed (1) to determine the molecular diagnosis rate and the recurrent causative genes of patients with non-obstructive azoospermia (NOA) using targeted next-generation sequencing (NGS) panel screening and (2) to discuss whether these genes help in the prognosis for microsurgical testicular sperm extraction (micro-TESE). METHODS: We used NGS panels to screen 668 Chinese men with NOA. Micro-TESE outcomes for six patients with pathogenic mutations were followed up. Functional assays were performed for two NR5A1 variants identified: p.I224V and p.R281C. RESULTS: Targeted NGS panel sequencing could explain 4/189 (2.1% by panel 1) or 10/479 (2.1% by panel 2) of the patients with NOA after exclusion of karyotype abnormalities and Y chromosome microdeletions. Almost all mutations detected were newly described except for NR5A1 p.R281C and TEX11 p.M156V. Two missense NR5A1 mutations-p.R281C and p.I244V-were proved to be deleterious by in vitro functional assays. Mutations in TEX11, TEX14, and NR5A1 genes are recurrent causes of NOA, but each gene explains only a very small percentage (less than 4/668; 0.6%). Only the patient with NR5A1 mutations produced viable spermatozoa through micro-TESE, but other patients with TEX11 and TEX14 had poor micro-TESE prognoses. CONCLUSIONS: A targeted NGS panel is a feasible diagnostic method for patients with NOA. Because each gene implicated explains only a small proportion of such cases, more genes should be included to further increase the diagnostic rate. Considering previous reports, we suggest that only a few genes that are directly linked to meiosis can indicate poor micro-TESE prognosis, such as TEX11, TEX14, and SYCE1.


Assuntos
Azoospermia/genética , Proteínas de Ciclo Celular/genética , Proteínas de Ligação a DNA/genética , Sequenciamento de Nucleotídeos em Larga Escala , Fatores de Transcrição/genética , Adulto , Azoospermia/diagnóstico , Azoospermia/epidemiologia , Azoospermia/patologia , China/epidemiologia , Humanos , Masculino , Meiose/genética , Recuperação Espermática , Espermatozoides/metabolismo , Espermatozoides/patologia , Testículo/crescimento & desenvolvimento , Testículo/metabolismo
17.
Nanoscale Res Lett ; 16(1): 4, 2021 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-33404823

RESUMO

Conductive and degradable nanofibrous scaffolds have great potential in promoting cell growth, proliferation, and differentiation under an external electric field. Although the issue of inferior electrical conductivity in body fluids still exists, polyaniline (PANI)-based degradable nanofibers can promote cell adhesion, growth, and proliferation. To investigate whether the effect is caused by the PANI morphology, we selected three inorganic acids as dopants in the process of PANI in situ oxidative polymerization: hydrochloric acid, sulfuric acid, and perchloric acid. The obtained polyaniline/polylactic acid (PANI/PLA) composite nanofibers were characterized via SEM, FTIR, and XPS analysis, and we confirmed that the PLA nanofibers were successfully coated by PANI without any change to the porous structure of the PLA nanofibers. The in vitro mechanical properties and degradability indicated that the oxidation of acid dopants should be considered and that it was likely to have a higher oxidation degradation effect on PLA nanofibers. The contact angle test demonstrated that PANI/PLA composite nanofibers with different surface morphologies have good wettability, implying that they meet the requirements of bone tissue engineering scaffolds. The surface roughness and cell viability demonstrated that different PANI morphologies on the surface can promote cell proliferation. The higher the surface roughness of the PANI, the better the biocompatibility. Consequently, the regulated surface morphology of PANI/PLA composite nanofibers via different acids doping has positive effect on biocompatibility in tissue engineering.

18.
IEEE Trans Neural Netw Learn Syst ; 32(7): 2809-2824, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-32755867

RESUMO

Neural networks (NNs) are effective machine learning models that require significant hardware and energy consumption in their computing process. To implement NNs, stochastic computing (SC) has been proposed to achieve a tradeoff between hardware efficiency and computing performance. In an SC NN, hardware requirements and power consumption are significantly reduced by moderately sacrificing the inference accuracy and computation speed. With recent developments in SC techniques, however, the performance of SC NNs has substantially been improved, making it comparable with conventional binary designs yet by utilizing less hardware. In this article, we begin with the design of a basic SC neuron and then survey different types of SC NNs, including multilayer perceptrons, deep belief networks, convolutional NNs, and recurrent NNs. Recent progress in SC designs that further improve the hardware efficiency and performance of NNs is subsequently discussed. The generality and versatility of SC NNs are illustrated for both the training and inference processes. Finally, the advantages and challenges of SC NNs are discussed with respect to binary counterparts.


Assuntos
Aprendizado de Máquina , Redes Neurais de Computação , Processos Estocásticos , Algoritmos , Humanos , Neurônios
19.
Clin Genet ; 99(2): 250-258, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33111320

RESUMO

Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pregnancy. However, PGT-M currently adopts the single nucleotide polymorphism (SNP) linkage analysis for embryo's pathogenic gene carrying status and linkage analysis requires proband of the family. Here we report a new PGT-M strategy using single sperm SNP linkage analysis for male patient with sporadic ADPKD caused by de novo PKD1 mutation. We recruited five couples with male patient with ADPKD caused by de novo PKD1 mutation, and 39 embryos from six PGT-M cycles were detected. The five couples had at least one embryo that does not carry the PKD1 mutation. Within these five couples, the accuracy of carrier status of embryos was confirmed by amniotic fluid gene detection of two couples and two couples successfully delivered healthy fetuses. Therefore, the new PGT-M strategy of using single sperm SNP linkage analysis was proved to be feasible and effective for male patient with ADPKD caused by de novo PKD1 mutation.


Assuntos
Testes Genéticos/métodos , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/genética , Diagnóstico Pré-Implantação , Canais de Cátion TRPP/genética , Adulto , Aneuploidia , Análise Mutacional de DNA , Transferência Embrionária , Feminino , Ligação Genética , Haplótipos , Humanos , Masculino , Mutação , Rim Policístico Autossômico Dominante/embriologia , Polimorfismo de Nucleotídeo Único , Análise do Sêmen , Espermatozoides/metabolismo
20.
Asian J Androl ; 2021 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-34975069

RESUMO

Cavernous nerve injury is an important cause of erectile dysfunction (ED). Although protective nerve technology has been widely used in nerve-sparing radical prostatectomy (nsRP), the incidence of ED is still very high after surgery. The purpose of our study was to evaluate erectile function (EF) and penile length in the non-erectile state (PLNES) following scheduled phosphodiesterase 5 inhibitor (PDE5i), vacuum erectile device (VED) treatment, and combination therapy after nsRP. One hundred patients with localized prostate cancer and normal EF were randomized to scheduled PDE5i group, VED treatment group, a combined treatment group, and the control group without any intervention. The International Index of Erectile Function-5 (IIEF-5) scores and PLNES were evaluated after 6 months and 12 months of treatment. Sexual Encounter Profile (SEP-Question 2 and SEP-Question 3) were evaluated after 12 months of treatment. Ninety-one of the 100 randomized patients completed the study. We found that the 5 mg tadalafil once a day (OaD) combined with VED can help improve IIEF-5 scores in nsRP patients after both 6 months and 12 months. VED alone or combined with tadalafil OaD can help patients maintain PLNES. VED combined with tadalafil OaD can improve the rate of successful penetration (SEP-Question 2) after 12 months. There were no significant differences in the return to target EF after 12 months among the groups. No significant correlation was noted between the variables and return to target EF (IIEF ≥ 17), and between the variables and effective shortening of the patient's penis (shortening ≥ 1 cm) after 12 months of intervention.

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