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1.
Zhonghua Nan Ke Xue ; 30(7): 627-633, 2024 Jul.
Article de Chinois | MEDLINE | ID: mdl-39212398

RÉSUMÉ

OBJECTIVE: To investigate the clinical and genetic characteristics of a male carrier of exceptional complex chromosome rearrangement (CCR) and the outcome of preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR). METHODS: Using the modified high resolution G banding technique and whole-genome low-coverage sequencing (WGLCS), we analyzed the cellular karyotype and molecular karyotype of a male carrier of CCR, performed an analysis of the single-sperm chromosome copy number and conducted PGT-SR for the patient by next-generation sequencing (NGS). In addition, we reviewed the literature on reported male carriers of CCRs and summarized their normal/balanced sperm ratios and PGT-SR outcomes. RESULTS: The karyotype of the patient was 46,XY,der(5)inv(5)(q14.3q23.2)t(5;14;11) (q23.2;q31.1;q21),der(11)t(5;14;11);der(14)t(5;14;11), with the translocation breakpoints located in the intergenic region. Single-sperm sequencing revealed 20.0%(7/35)of normal haploids in the male's spermatozoa, and the results PGT-SR showed a proportion of 25.0%(4/16)of normal/balanced embryos. After thawing and transferring of 2 euploid blastocysts, a healthy male infant was successfully delivered. CONCLUSION: The proportion of normal haploids in the spermatozoa of male CCR carriers may be higher than theoretically predicted, and PGT-SR can effectively improve the pregnancy outcome in male CCR carriers and provide valuable data for genetic counseling.


Sujet(s)
Diagnostic préimplantatoire , Translocation génétique , Humains , Mâle , Diagnostic préimplantatoire/méthodes , Femelle , Caryotypage , Grossesse , Spermatozoïdes , Adulte , Dépistage génétique , Hétérozygote , Aberrations des chromosomes , Caryotype , Séquençage nucléotidique à haut débit
2.
Huan Jing Ke Xue ; 45(8): 4529-4539, 2024 Aug 08.
Article de Chinois | MEDLINE | ID: mdl-39168673

RÉSUMÉ

Zhari Namco is situated in the alpine grassland belt of northwestern Xizang with a fragile ecological environment. As the third-largest lake in Xizang, there has been a long-term lack of research data concerning its basin water environment. In an effort to elucidate the surface water environment characteristics of the basin and the factors influencing them, an extensive investigation was conducted from August 2021 to June 2022, encompassing periods of high flow, low flow, and base flow. Further, the study also involved comprehensive assessments of the water chemistry characteristics and spatial-temporal variation in lake sampling sites of the basin that were not significant by using mathematical statistics, hydrochemical analysis, correlation analysis, and principal component analysis. The findings revealed the following: ① The water in the Zhari Namco Basin exhibited an alkaline nature, with dominant ionic compositions in the lake comprising Na+, SO42-, and Cl-, whereas the rivers were primarily characterized by Ca2+, HCO3-, and SO42-. ② The main pollutants exceeding established standards included sulfates, arsenic, chlorides, and total phosphorus. The study identified significant spatiotemporal variations in water quality. Temporally, the exceedance of sulfates, arsenic, and total phosphorus was most pronounced during high-flow periods, followed by that during low-flow and base flow periods, with chloride levels showing less temporal variation. Spatially, river water quality surpassed that of the lakes, with arsenic, total phosphorus, TDS, sulfate, chloride, K+, and Na+ concentrations in lakes 1 to 2 orders of magnitude higher than those in rivers. Water qualities exceeding the established standard were primarily found in the lake, with less spatial variations within the lake itself. ③ Hydrochemical processes within the basin were found to be primarily influenced by natural phenomena, including evaporation-concentration and rock weathering. Various elements entered the lakes via surface runoff, where they continuously accumulated under the influence of evaporation-concentration processes, ultimately leading to exceedances. ④ Temporal variations in water quality were primarily attributed to increased elemental loss and intensified evaporation during high-flow periods. The spatial discrepancies in water quality were predominantly a consequence of the differing hydrodynamic conditions between flowing water bodies and enclosed water bodies.

3.
J Org Chem ; 89(11): 8041-8054, 2024 Jun 07.
Article de Anglais | MEDLINE | ID: mdl-38757188

RÉSUMÉ

A base-assisted dearomative [2 + 1] spiroannulation of p/o-bromophenols with activated olefins (methylenemalonates) to construct various cyclopropyl spirocyclohexadienone skeletons is reported. Furthermore, several other halophenols (X = Cl, I) were also tolerated in this process. Control experiments reveal a dearomative Michael addition of phenols at their halogenated positions to methylenemalonates, followed by intramolecular radical-based SRN1 dehalogenative cyclopropanation. However, according to the density functional theory (DFT) calculations, an SN2 dehalogenative cyclopropanation with the same low activation energy barrier should not be excluded. The utility of this method is showcased by gram-scale syntheses and transformations of the dearomatized products.

4.
BMC Psychiatry ; 23(1): 822, 2023 11 09.
Article de Anglais | MEDLINE | ID: mdl-37946206

RÉSUMÉ

Schizophrenia (SCZ) is a chronic, highly relapsing, severe mental disorder with an unclear etiology. Cytokine-mediated neuroimmune abnormalities have been repeatedly revealed. IL-1ß was reported to play a vital role in expanding the inflammatory response. However, the underlying molecular mechanism is poorly understood. In this study, we found that miR-3653-3p with the NLRP3 binding site in Targetscan was differentially expressed in miRNA high-throughput sequencing in schizophrenia (SCZ), and indeed, its downregulation in SCZ peripheral blood was also verified by RT-qPCR (P-value = 0.015). Furthermore, we found that the mRNAs of caspase 1 and IL-1ß are elevated in people who suffer from SCZ (P = 0.044 and P = 0.001, respectively). Moreover, the interaction of NLRP3, Caspase1, and IL-1ß was found in the peripheral blood of patients with SCZ. The expression level of miR-3653-3p was negatively correlated with NLRP3 and IL-1ß mRNA contents (r = 0.487, P = 0.04 and r = 0.508, P = 0.037, respectively). NLRP3 mRNA was positively correlated with caspase1 mRNA. Meanwhile, the expression of miR-3653-3p was also negatively correlated with negative symptom subscores of PANSS (r = 0.450, P = 0.046). IL-1ß mRNA is positively correlated with the total scores of PANSS (r = 0.690, P = 0.002) and the sub-scores of general psychopathology of PANSS (r = 0.583, P = 0.014). Additionally, a significant positive relationship exists between IL-1ß and the total duration (r = 0.638, P = 0.006). We found that the combination of miR-3653-3p, caspase 1, and IL-1ß have better diagnostic values. The results indicate that miR-3653-3p, caspase 1, and IL-1ß can potentially be biomarkers of SCZ, identifying negative symptoms or a chronic course. A further understanding of the involvement of IL-1ß in SCZ may be a crucial molecular effector for the chronic course to intervene.


Sujet(s)
microARN , Schizophrénie , Humains , Caspase-1/génétique , Caspase-1/métabolisme , Interleukine-1 bêta/génétique , microARN/génétique , Protéine-3 de la famille des NLR contenant un domaine pyrine/génétique , Protéine-3 de la famille des NLR contenant un domaine pyrine/métabolisme , ARN messager , Schizophrénie/diagnostic , Schizophrénie/génétique
5.
ACS Sens ; 8(11): 4226-4232, 2023 11 24.
Article de Anglais | MEDLINE | ID: mdl-37871282

RÉSUMÉ

Lateral flow assay (LFA) based on gold nanoparticles (AuNPs) is a widely used analytical device for the rapid analysis of environmental hazards and biomarkers. Typically, a sandwich-type format is used for macromolecule detection, in which the appearance of a red test line indicates a positive result (Signal-ON). In contrast, small molecule detection usually relies on a competitive assay, where the absence of a test line indicates positive testing (Signal-OFF). However, such a "Signal-OFF" reading is usually detected within a narrower dynamic range and tends to generate false-negative signals at a low concentration. Moreover, inconsistent readings between macromolecule and small molecule testing might lead to misinterpretation when used by nonskilled individuals. Herein, we report a "Signal-ON" small molecule competitive assay based on the sterically modulated affinity-switchable interaction of biotin and streptavidin. In the absence of a small molecule target, a large steric hindrance can be imposed on the biotin to prevent interaction with streptavidin. However, in the presence of the small molecule target, this steric effect is removed, allowing the biotin to bind to streptavidin and generate the desired test line. In this article, we demonstrate the selective detection of two small molecule drugs, sulfonamides and trimethoprim, using this simple and modular affinity-switchable lateral flow assay (ASLFA). We believe that this affinity-switchable approach can also be adapted in drug discovery and clinical diagnosis, where the competitive assay format is always used for the rapid analysis of small molecules.


Sujet(s)
Biotine , Nanoparticules métalliques , Humains , Streptavidine/métabolisme , Biotine/métabolisme , Or
6.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-980779

RÉSUMÉ

OBJECTIVE@#To observe the effect of acupuncture at "Feishu" (BL 13) + "Dingchuan" (EX-B 1) and "Kongzui" (LU 6) + "Yuji" (LU 10) for the airway remodeling in asthma rats based on the transforming growth factor-β1 (TGF-β1)/ Smad family member 3 (Smad3) signaling pathway; and explore the efficacy difference between the two acupoint combinations.@*METHODS@#Forty SPF male SD rats, aged 4 weeks, were randomly divided into a blank group (n = 10) and a modeling group (n = 30). The ovalbumin (OVA) sensitization method was used to establish asthma model in the modeling group. After successful model preparation, the rats of the modeling group were randomized into a model group, an acupuncture at "Feishu" (BL 13) + "Dingchuan" (EX-B 1) (AAF) group, and acupuncture at "Kongzui" (LU 6)+"Yuji" (LU 10) (AAK) group, with 10 rats in each one. Starting from day 15 of the experiment, 5 min after motivating, acupuncture was applied to "Feishu" (BL 13) + "Dingchuan" (EX-B 1) and "Kongzui" (LU 6)+"Yuji" (LU 10) in the AAF group and the AAK group respectively. The intervention was delivered for 30 min each time, once daily, lasting 3 weeks consecutively. Using lung function detector, the airway resistance (RL) and dynamic compliance (Cdyn) of the lungs were detected. The histomorphology of lung tissues was detected with HE staining and Masson staining, and the mRNA and protein expression of TGF-β1 and Smad3 in lung tissues was detected with the real-time PCR and Western blot methods.@*RESULTS@#Compared with the blank group, RL was increased and Cdyn was decreased in the rats of the model group (P<0.01); and RL was reduced and Cdyn was increased in the AAF group and the AAK group when compared with those in the model group (P<0.01, P<0.05). The rats of the model group had bronchial lumen stenosis, inflammatory cell infiltration, collagen fibre hyperplasia and thickened smooth muscle in the lung tissues when compared with those in the blank group; and in comparison with the model group, all of the above morphological changes were attenuated in the AAF group and the AAK group. Besides, these morphological changes of the lung tissues were more alleviated in the AAF group when compared with those in the AAK group. In comparison with the blank group, the mRNA and protein expression of TGF-β1 and Smad3 of the lung tissues was increased in the model group (P<0.01), and it was reduced in the AAF group and the AAK group when compared with that in the model group (P<0.05, P<0.01). The mRNA expression of TGF-β1 and Smad3 was lower in the AAF group when compared with that in the AAK group (P<0.05).@*CONCLUSION@#Acupuncture at either "Feishu" (BL 13)+"Dingchuan" (EX-B 1) or "Kongzui" (LU 6)+"Yuji" (LU 10) reduces the airway remodeling in the rats with asthma, which may be related to the down-regulation of mRNA and protein expression of TGF-β1 and Smad3. The better efficacy is obtained with acupuncture at "Feishu" (BL 13)+"Dingchuan" (EX-B 1).


Sujet(s)
Mâle , Animaux , Rats , Rat Sprague-Dawley , Facteur de croissance transformant bêta-1/génétique , Remodelage des voies aériennes , Thérapie par acupuncture , Transduction du signal , Asthme/thérapie , Sténose pathologique , Antiasthmatiques
7.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-1022442

RÉSUMÉ

With the widespread adoption of endoscopy and laparoscopy in the treatment of gastric cancer, the pivotal role of endoscopy in ensuring the quality of laparoscopic surgery has grown increasingly significant. Simultaneously, the complementary and collaborative role of laparoscopy in the endoscopic treatment of gastric cancer has garnered attention. The dual-endoscopic treatment model represents an inevitable trend in the evolution of precise and personalized healthcare. Currently, the fusion of endoscopy and laparoscopy manifests in diverse and multifaceted ways. The integration of dual-endoscopy necessitates transcending the boundaries between internal and surgical disciplines. The collaborative multidisciplinary platform-the Digestive Disease Center, centered on disease treatment, can streamline the diagnostic and treatment process, making it efficient, safe, and rational. This, in turn, allows dual-endoscopy to truly realize synergy and cooperation, leading to more precise, minimally invasive procedures, and maximal functional preservation in the treatment of gastric cancer. The authors elucidate the combined strategy of endoscopy and laparoscopy, aiming to establish a more rational dual-endoscopic diagnostic and treatment model for patients with gastric cancer.

8.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-1007422

RÉSUMÉ

OBJECTIVE@#To observe the effects of acupuncture at "Kongzui" (LU 6) and "Yuji" (LU 10) on the latent period of inducing asthma, pulmonary function and the expression of endothelin-1 (ET-1) and metallothionein-2 (MT-2) in asthma rats, and to explore the possible mechanism of acupuncture in alleviating airway smooth muscle spasm and improving the acute attack of asthma.@*METHODS@#A total of 40 male SD rats of SPF-grade were randomly divided into a normal group, a model group, a medication group and an acupuncture group, 10 rats in each group. Except for the normal group, ovalbumin sensitization method was used to establish the asthma model in the other 3 groups. Salbutamol nebulization was adopted in the medication group, while acupuncture was applied at bilateral "Kongzui" (LU 6) and "Yuji" (LU 10) in the acupuncture group. The intervention was given once a day for 14 days in the two groups. The latent period of inducing asthma and pulmonary function were observed, the levels of ET-1 and tumor necrosis factor (TNF)-α in serum and bronchoalveolar lavage fluid (BALF) were detected by ELISA method, the morphology of the airway was observed by Masson staining, the ultrastructure of the airway smooth muscle was observed by transmission electron microscopy, the mRNA and protein expression of ET-1 and MT-2 in lung tissue was detected by real-time PCR and Western blot methods.@*RESULTS@#Compared with the normal group, in the model group, the latent period of inducing asthma was shortened (P<0.01); the airway resistance (RL) was increased while the dynamic compliance (Cdyn) was decreased (P<0.01, P<0.05); the levels of ET-1 and TNF-α in serum and BALF were increased (P<0.01); collagen fibers and collagen depositions were found around the bronchi, airway smooth muscle was thickened, the cell damage was severe and mitochondria were swollen; the mRNA and protein expression of ET-1 was increased while the mRNA and protein expression of MT-2 was decreased (P<0.01). Compared with the model group, in the acupuncture group, the latent period of inducing asthma was prolonged (P<0.05), the RL was decreased while the Cdyn was increased (P<0.01, P<0.05). Compared with the model group, in the medication group and the acupuncture group, the levels of ET-1 and TNF-α in serum and BALF were decreased (P<0.01, P<0.05); collagen fibers and collagen depositions around the bronchi were reduced, the thickened airway smooth muscle was lightened, the cell damage was improved; the mRNA and protein expression of ET-1 was decreased while the mRNA and protein expression of MT-2 was increased (P<0.01). Compared with the medication group, the mRNA expression of MT-2 was increased in the acupuncture group (P<0.05).@*CONCLUSION@#Acupuncture at "Kongzui" (LU 6) and "Yuji" (LU 10) can improve the pulmonary function and alleviate the airway smooth muscle spasm in rats with asthma. Its mechanism may be related to the down-regulation of ET-1 expression and up-regulation of MT-2 expression.


Sujet(s)
Rats , Mâle , Animaux , Facteur de nécrose tumorale alpha/métabolisme , Rat Sprague-Dawley , Poumon , Asthme/métabolisme , Thérapie par acupuncture , Spasme , ARN messager/métabolisme
9.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-1009876

RÉSUMÉ

OBJECTIVES@#To investigate the level of neuropsychological development in large for gestational age (LGA) infants at the age of 12 months.@*METHODS@#The infants, aged 12 to <13 months, who attended the Outpatient Service of Child Care in the First Affiliated Hospital of Shandong First Medical University from December 2021 to June 2023, were enrolled as subjects. According to the gestational age and birth weight, they were divided into preterm appropriate for gestational age (AGA) group, preterm LGA group, early term AGA group, early term LGA group, full-term AGA group, and full-term LGA group. A modified Poisson regression analysis was used to investigate the association between LGA and neuropsychological development outcome at 12 months of age.@*RESULTS@#After adjustment for confounding factors, compared with the full-term AGA group at the age of 12 months, the full-term LGA group had a significant increase in the risk of language deficit (RR=1.364, 95%CI: 1.063-1.750), the early term LGA group had significant increases in the risk of abnormal gross motor, fine motor, language, and the preterm LGA group had significant increases in the risk of abnormal language, social behavior, and total developmental quotient (P<0.05); also, the early term AGA group had higher risks of developmental delay across all five attributes and in total developmental quotient at the age of 12 months (P<0.05); except for the language attribute, the preterm AGA group had higher risks of developmental delay in the other 4 attributes (P<0.05).@*CONCLUSIONS@#The neuropsychological development of LGA infants with different gestational ages lags behind that of full-term AGA infants at 12 months of age, and follow-up and early intervention of such infants should be taken seriously in clinical practice.


Sujet(s)
Nouveau-né , Nourrisson , Enfant , Humains , Poids de naissance , Nouveau-né de poids élevé pour l'âge gestationnel , Nourrisson petit pour son âge gestationnel , Âge gestationnel , Santé de l'enfant
10.
World J Clin Cases ; 10(7): 2166-2173, 2022 Mar 06.
Article de Anglais | MEDLINE | ID: mdl-35321156

RÉSUMÉ

BACKGROUND: The outcomes of the use of commercial in vitro maturation (IVM) medium to culture immature oocytes obtained from conventional ovulation induction, followed by rescue intracytoplasmic sperm injection (RICSI), are not ideal. It is thus difficult to widely adopt this approach in clinical practice. Therefore, it is necessary to explore methods for improving the clinical outcome of IVM. AIM: To study the effect of sperm on the developmental potential of in vitro-matured oocytes in conventional culture. METHODS: This was a retrospective study of patients whose immature oocytes were harvested from conventional oocyte stimulation cycles and underwent ICSI at our hospital between June 2018 and August 2020. RICSI was performed using sperm collected on the day of oocyte harvest (old) and sperm collected on the day of RICSI (fresh) and oocytes matured in vitro after 24 h of culture in conventional medium. The rates of in vitro oocyte maturation, normal fertilization, normal cleavage, day-3 top-quality embryos, and useful blastocyst formation were compared between the two groups. RESULTS: In total, 102 germinal vesicle (GV)-stage immature oocytes were cultured in the old sperm group. In the fresh sperm group, 122 GV-stage immature oocytes were collected and cultured in vitro for 24 h. There were no significant differences in the general conditions of males and females between the two groups (P > 0.05). The oocyte maturation, normal fertilization, and normal cleavage rates of the old and fresh groups were 51.0% vs 55.7%, 61.5% vs 64.7%, and 93.8% vs 93.2%, respectively. None of the rates differed significantly (P > 0.05) between the two groups. However, the day-3 top-quality embryo and useful blastocyst rates of the old and fresh sperm groups were 16.6% vs 63.4%; 6.67% vs 34.6%, respectively. The day-3 top-quality embryos and useful blastocyst rates of the old sperm group were significantly lower than those of the fresh group (P < 0.05). CONCLUSION: In vitro maturation with conventional culture medium combined with the use of fresh sperm collected on the day of RICSI is an easy-to-implement strategy for patients whose oocytes are completely or mostly immature.

11.
Chemosphere ; 293: 133524, 2022 Apr.
Article de Anglais | MEDLINE | ID: mdl-34990723

RÉSUMÉ

The study aimed to examine the associations between the level of trihalomethanes and its metabolites in pregnancy and the risks of adverse birth outcomes. We searched the databases of the China National Knowledge Infrastructure, WanFang, Vip, PubMed, and Elsevier Science Direct from database establishment to July 14, 2021 and performed a systematic review and meta-analysis of observational studies reporting associations between trihalomethanes level and abnormally low birth weight and preterm birth. The pooled odds ratio (OR), pooled risk ratio, and pooled risk difference with their 95% confidence interval (CI) were calculated for risk estimates. A total of 24 studies involving 1,118,037 pregnant women were finally enrolled in the present systematic review and meta-analysis. Our research found that abnormally low birth weight was associated with higher levels of total trihalomethanes (OR = 2.45, 95% CI: 1.28, 4.68; P = 0.007). Unexpectedly, the meta-analysis indicated that higher total trihalomethanes level was associated with lower odds of preterm birth (OR = 0.90, 95% CI: 0.81, 0.99; P = 0.03). Our findings indicate that trihalomethanes exposure might be a risk factor for abnormally low birth weight and that it would be prudent to minimize exposure to trihalomethanes during pregnancy because of the risk of abnormally low birth weight. Given some limitations of the systematic review and meta-analysis, our results should be interpreted with caution.


Sujet(s)
Complications de la grossesse , Naissance prématurée , Femelle , Humains , Nourrisson à faible poids de naissance , Nouveau-né , Grossesse , Issue de la grossesse/épidémiologie , Naissance prématurée/épidémiologie , Trihalogénométhanes/toxicité
12.
Front Cell Dev Biol ; 9: 699263, 2021.
Article de Anglais | MEDLINE | ID: mdl-34458261

RÉSUMÉ

Hematopoietic stem cells (HSCs) are derived from hemogenic endothelial cells (HECs) during embryogenesis. The HSC-primed HECs increased to the peak at embryonic day (E) 10 and have been efficiently captured by the marker combination CD41-CD43-CD45-CD31+CD201+Kit+CD44+ (PK44) in the aorta-gonad-mesonephros (AGM) region of mouse embryos most recently. In the present study, we investigated the spatiotemporal and functional heterogeneity of PK44 cells around the time of emergence of HSCs. First, PK44 cells in the E10.0 AGM region could be further divided into three molecularly different populations showing endothelial- or hematopoietic-biased characteristics. Specifically, with the combination of Kit, the expression of CD93 or CD146 could divide PK44 cells into endothelial- and hematopoietic-feature biased populations, which was further functionally validated at the single-cell level. Next, the PK44 population could also be detected in the yolk sac, showing similar developmental dynamics and functional diversification with those in the AGM region. Importantly, PK44 cells in the yolk sac demonstrated an unambiguous multilineage reconstitution capacity after in vitro incubation. Regardless of the functional similarity, PK44 cells in the yolk sac displayed transcriptional features different from those in the AGM region. Taken together, our work delineates the spatiotemporal characteristics of HECs represented by PK44 and reveals a previously unknown HSC competence of HECs in the yolk sac. These findings provide a fundamental basis for in-depth study of the different origins and molecular programs of HSC generation in the future.

13.
Inorg Chem ; 60(17): 13269-13277, 2021 Sep 06.
Article de Anglais | MEDLINE | ID: mdl-34404212

RÉSUMÉ

In this study, Cu2Se1-xSx (x = 0.1, 0.3, and 0.5) alloy powders were prepared by the hydrothermal synthesis method. In the subsequent sintering process, the spontaneous in situ phase separation process of the sample forms a two-phase hybrid structure. The generated Cu2S precipitates in the Cu2Se matrix noticeably enhance phonon scattering, which is beneficial for low thermal conductivity without significantly affecting the electrical transport performance. Ultimately, an optimized thermoelectric performance was obtained in Cu2Se0.9S0.1, reaching a peak zT value of 1.43 at 773 K, the optimum value among the Cu-Se-S systems at this temperature.

14.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(4): 1275-1279, 2021 Aug.
Article de Chinois | MEDLINE | ID: mdl-34362516

RÉSUMÉ

OBJECTIVE: To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/ß complex thalassemia couple. METHODS: The coding regions of α-globin genes (HBA1, HBA2) and ß-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis. RESULTS: Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/ß complex thalassemia, one was ß-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term. CONCLUSION: Preimplantation genetic diagnosis can be carried out by NGS technology in α/ß complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.


Sujet(s)
Diagnostic préimplantatoire , alpha-Thalassémie , bêta-Thalassémie , Femelle , Séquençage nucléotidique à haut débit , Humains , Mutation , Grossesse , Globines bêta/génétique , bêta-Thalassémie/diagnostic , bêta-Thalassémie/génétique
15.
Clinical Medicine of China ; (12): 57-61, 2021.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-884139

RÉSUMÉ

Objective:To observe the expression of miR-30c-5p and Toll-like receptor 4(TLR4) in colon cancer tissues and cells, and to explore their relationship with clinicopathological features.Methods:As a prospective study, 30 cases of colon cancer surgical specimens and matched normal tissue samples were selected from the Cancer Hospital of China Medical University from May 2016 to may 2017.The expression of miR-30c-5p mRNA was detected by quantitative real-time polymerase chain reaction(qRT-PCR), and the expression of TLR4 Protein was detected by western blot (WC). The expression differences of miR-30c-5p mRNA and TLR4 protein in different TNM stages, differentiation degrees and diameters were observed.The correlation between the expression of miR-30c-5p and TLR4 Protein was analyzed by Pearson Rank method.Results:The expression of miR-30c-5p was lower in colon cancer tissues(0.311±0.147) than in adjacent normal colon tissues(0.881±0.266)( t=10.613, P<0.001). TLR4 protein was higher in colon cancer tissues(0.729±0.274) than in adjacent normal colon tissues(0.361±0.168)( t=6.310, P<0.001). Expression of miR-30c-5p was lower in colon cancer cell lines(0.394±0.045, 0.435±0.098, 0.533±0.092, 0.272±0.069) than in normal colon epithelial cell line(1.371±0.101)( t value were 6.744, 6.432, 6.865 and 6.201, respectively; P<0.001). The expression of TLR4 protein was higher in colon cancer cell lines(1.108±0.169, 1.035±0.177, 1.114±0.253, 1.116±0.157) than in normal colon epithelial tissues(0.358±0.094)( t value were 5.789, 4.799, 5.311 and 5.292, respectively; P<0.001). Pearson rank correlation showed that miR-30c-5p was negatively correlated with TLR4 protein expression( r=-0.487, 95% CI: -0.721--0.154, P<0.01). MiR-30c-5p was decreased with TNM stage increasing( F=31.406, P<0.001), pathological differentiation degree decreasing( F=9.960, P<0.001), tumor diameter increasing( F=10.267, P<0.001). TLR4 was increasing with TNM stage increasing( F=37.634, P<0.001). TLR4 increased with the decrease of tumor differentiation( F=38.027.35, P<0.001). TLR4 increased with tumor diameter ( F=20.717, P<0.001). Conclusion:The low expression of mir-30c-5p and high expression of TLR4 in colon cancer were correlated with TNM stage and tumor volume.

16.
Journal of Experimental Hematology ; (6): 1275-1279, 2021.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-888552

RÉSUMÉ

OBJECTIVE@#To explore the application value of next generation sequencing (NGS) in preimplantation genetic diagnosis of α/β complex thalassemia couple.@*METHODS@#The coding regions of α-globin genes (HBA1, HBA2) and β-globin gene (HBB) were selected as the target regions. The high-density and closely linked single nucleotide polymorphism (SNP) sites were selected as the genetic linkage markers in the upstream and downstream 2M regions of the gene. After NGS, the effective SNP sites were selected to construct the haplotype of the couple, and the risk chromosome of the mutation carried by the couple was determined. The NGS technology was used to sequence the variations of HBA1, HBA2 and HBB directly and construct haplotype linkage analysis for preimplantation genetic diagnosis.@*RESULTS@#Direct sequencing and haplotype linkage analysis of HBA1, HBA2 and HBB showed that two of the six blastocysts were α/β complex thalassemia, one was β-thalassemia heterozygote, two were α-thalassemias heterozygotes, and one was intermediate α-thalassemia. A well-developed embryo underwent preimplantation genetic diagnosis was implanted into the mother's uterus, and a healthy infant was born at term.@*CONCLUSION@#Preimplantation genetic diagnosis can be carried out by NGS technology in α/β complex thalassemia couples, and abortion caused by aneuploid embryo selection can be avoided.


Sujet(s)
Femelle , Humains , Grossesse , Séquençage nucléotidique à haut débit , Mutation , Diagnostic préimplantatoire , alpha-Thalassémie , Globines bêta/génétique , bêta-Thalassémie/génétique
17.
Huan Jing Ke Xue ; 41(4): 1607-1618, 2020 Apr 08.
Article de Chinois | MEDLINE | ID: mdl-32608666

RÉSUMÉ

This study concentrated on the 15 perfluoroalkyl substances (PFASs) in the coastal areas of China and South Korea, an urbanized area with intensive human activities. In total, 126 water samples and 125 sediment samples were collected and determined by HPLC-MS/MS. Fifteen PFASs were detected at least once in all the sites. The total concentrations of PFASs in water and sediment samples ranged from 6.75 ng·L-1 to 20982 ng·L-1 and from 0.229 ng·g-1 to 53.8 ng·g-1 (dw), respectively. The concentrations of PFASs in waters and sediments were relatively high in China, and PFOA was the predominant PFAS. In contrast, short chain compounds such as PFBA and PFPeA played a major role in water, and PFOS, PFBA, and PFOA dominated the sediment samples in South Korea. The partition coefficients of PFASs were closely related to the fraction of organic carbon in the sediment and the carbon chain length of PFASs. Among the 15 compounds, the partition coefficients of 9 were significantly correlated with the fraction of organic carbon (r>0.21, P<0.05), and the partition coefficient steadily increased with the increase of the carbon chain length. The results of ecological risk assessment suggested that the coastal urbanized areas of China and South Korea are still at a low risk. However, some specific areas also showed PFAS pollution. More attention should be paid to the potential health risks.


Sujet(s)
Acides alcanesulfoniques/analyse , Fluorocarbones/analyse , Polluants chimiques de l'eau/analyse , Chine , Surveillance de l'environnement , Sédiments géologiques , République de Corée , Rivières , Spectrométrie de masse en tandem
18.
Huan Jing Ke Xue ; 41(5): 2127-2136, 2020 May 08.
Article de Chinois | MEDLINE | ID: mdl-32608830

RÉSUMÉ

Since the establishment of Xiong'an New District, a series of comprehensive pollution control measures have been implemented in Baiyangdian Lake. To evaluate the pollution status and identify the main sources of pollution of Baiyangdian Lake, 30 water samples and 29 sediment samples were collected in the lake. Five water quality indexes (i.e., concentrations of chemical oxygen demand, total phosphorus (TP), total nitrogen (TN), NH4+-N, and chlorophyll-a) and three sediment quality indexes (i.e., concentrations of TN, TP, and heavy metals) were measured. Along with historical monitoring data, the spatio-temporal pollution characteristics and their influencing factors in Baiyangdian Lake were analyzed. The results show that the Baiyangdian Lake water is eutrophicated. Of the 30 sampling sites, 8 are "mildly eutrophicated" (accounting for 26.7%), 16 are "moderately eutrophicated" (accounting for 53.3%), and 6 are "severely eutrophicated" (accounting for 20%). Compared with the periods between 1991 and 2017, the water quality of most sampling sites, especially in the northern parts, has improved a lot. This shows that the pollution control measures have basically curbed the gradually increasing trend of pollution in the waterbody. The nutritive pollution in sediment is severe. The concentrations of TN are between 1483.7 and 14234.1 mg·kg-1, with a mean value of 5054.9 mg·kg-1, and the concentration coefficient variation in different sites is as high as 46.5%. The concentrations of TP are between 360.3 and 1964.4 mg·kg-1, with a mean value of 925.4 mg·kg-1, and the concentration coefficient variation in different sites is 25.7%. Geoaccumulation index calculation shows that the mean Igeo value of heavy metals in sediments is less than 1, which indicates cleanness or slight pollution. The main contributions to heavy metal pollution are Cd, Zn, and Cu. Regarding ecological risk of heavy metals, only some sites (i.e., L3, L21, L28, and L29) are at high and very high risk level, while the remaining sites are at moderate risk level. Overall, the pollution of Baiyangdian Lake changes from the northern part to the southern part, and the main influencing factors also change from external pollution to endogenous pollution caused by the discharge of villages in the lake and the sediments.

19.
Chinese Acupuncture & Moxibustion ; (12): 1217-1222, 2020.
Article de Chinois | WPRIM (Pacifique Occidental) | ID: wpr-877589

RÉSUMÉ

OBJECTIVE@#To observe the effect of moxa-cone moxibustion at lung's back-@*METHODS@#Sixty SPF-grade healthy male Balb/c mice were randomly divided into a normal group, a model group, an LY294002 group (LY group), an electroacupuncture (EA) group and a moxibustion group, 12 mice in each group. Asthma model was replicated by using ovalbumin (OVA) sensitization. Except the mice in the normal group, all the mice were intraperitoneally injected with sensitization solution (containing 15 μg of OVA and 30 mg of aluminum hydroxide) on the 1st day, 7th day and 14th day, 0.5 mL per mice; from the 15th day, 1% OVA solution was atomized for 20 min, once a day for 2 weeks; the mice in the normal group was treated with identical operations but with 0.9% sodium chloride solution. The mice in the LY group were treated with injection of LY294002 at tail vein on the 13th day, 14th day and 15th day. At the beginning of the 15th day, The mice in the EA group were treated with EA at "Feishu" (BL 13) and "Zhongfu" (LU 1) with disperse-dense wave, frequency of 2 Hz/20 Hz, intensity of 1 mA, 15 min each time, once a day for 2 weeks. The mice in the moxibustion group was treated with moxa-cone moxibustion at "Feishu" (BL 13) and "Zhongfu" (LU 1) from the 15th day, three moxa-cones per acupoint, once a day for 2 weeks. On the 16th day, 18th day and 22nd day, the incubation period of asthma was recorded. On the 29th day, all the samples were collected. The expressions of IL-17 and IL-10 in serum and bronchoalveolar lavage fluid (BALF) were detected by ELISA method. The pathological changes of lung tissue were observed by HE staining. The percentage of Th17, Treg and Th17/Treg ratio in spleen tissue were detected by flow cytometry method.@*RESULTS@#Compared with the normal group, the incubation period of asthma in the model group was significantly shortened (@*CONCLUSION@#The Th17/Treg is imbalanced in asthmatic body. The moxibustion at lung's back-


Sujet(s)
Animaux , Mâle , Souris , Asthme/thérapie , Poumon , Moxibustion , Lymphocytes T régulateurs , Cellules Th17
20.
Huan Jing Ke Xue ; 40(6): 2869-2876, 2019 Jun 08.
Article de Chinois | MEDLINE | ID: mdl-31854681

RÉSUMÉ

With the rapid urbanization in China, soil environments are facing high risks. Taking a typical urbanized area as a case study, a total of 106 surface soil samples (0-20 cm) and 96 subsurface soil samples (20-40 cm) were collected to determine the concentrations of heavy metals, and then, the Nemerow index and Hankson index methods were used to evaluate their degrees of ecological risk. The spatial distributions of ecological risks were also explored. Experimental results showed that the concentrations of Cr, Ni, Cu, Zn, As, Cd, Pb, and Hg in surface soil samples were 2.87-84.64, 1.40-56.00, 2.75-125.05, 15.05-201.39, 1.46-89.92, 0.001-0.92, 15.29-160.07, and 0.006-0.52 mg·kg-1, respectively, and those in subsurface soil samples were 3.56-75.14, 1.65-71.58, 3.28-290.04, 17.99-296.94, 3.07-65.67, 0.02-1.00, 11.10-97.59, and 0.01-0.41 mg·kg-1, respectively. According to the risk control standards for soil contamination of agricultural land, approximately 71.70%, 40.57%, 4.72%, 3.77%, and 0.94% of Cd, Cu, Pb, As, and Zn, respectively, in the surface soil samples exceeded the standards, while 72.92%, 39.58%, 6.25%, 3.13%, 3.13%, and 1.04% of Cd, Cu, As, Zn, Pb, and Ni, respectively, in the subsurface soil samples exceeded the standards. Obviously, the pollution by Cd and Cu was the most severe in the research area, and the main contaminated areas were distributed in the northern part of the land. The soil environmental quality pollution assessment illustrated that high risk areas were distributed in the northern part of the research area too. The risk assessment results indicated that the main pollution factor was Cd, which is accordance with the serious pollution findings for Cd. In response to these results, effective management and remediation methods should be taken to control the soil environment pollution in this typical urbanized area.

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