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1.
Gene ; 895: 148005, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-37977315

RESUMO

The study aimed to assess chromosomal abnormalities in twin pregnancies using karyotyping and SNP array analysis. The research involved 530 twin pregnancies from two prenatal diagnosis centers between October 2012 and October 2022. Two types of twin pregnancies were considered: monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA), with a total of 177 MCDA and 353 DCDA cases. Chromosomal abnormalities were examined based on chorionic and amniotic sac properties and clinical indications. Among 42 twin pregnancies, 50 fetuses showed chromosomal abnormalities by karyotyping, with 35 cases of aneuploidy in DCDA and 10 in MCDA. Trisomy 21 was the most common aberration, affecting 15 fetuses in DCDA and 4 in MCDA. The rate of discordant karyotypes in MCDA and DCDA groups was 1.1% and 8.8%, respectively. Ultrasound abnormalities and advanced maternal age were frequent indications (55.3% and 39.2%, respectively). Aneuploidy frequencies in DCDA and MCDA pregnancies with advanced maternal age were 10.6% and 4.5%. Cardiac defects and increased nuchal translucency were common anomalies, with higher incidences of chromosomal abnormalities in DCDA (12.5% and 6.9%) and MCDA groups (23.5% and 3.7%). SNP array identified 1.6% clinically significant copy number variants in DCDA fetuses with ultrasound abnormalities, while no significant CNVs were found in MCDA pregnancies. Chromosomal aneuploidies were the primary abnormalities in twin pregnancies, with detectable abnormalities and clinically significant CNVs more likely in DCDA pregnancies, especially those with ultrasound abnormalities.


Assuntos
Polimorfismo de Nucleotídeo Único , Gravidez de Gêmeos , Gravidez , Feminino , Humanos , Gravidez de Gêmeos/genética , Cariotipagem , Aberrações Cromossômicas , Aneuploidia , Estudos Retrospectivos , Ultrassonografia Pré-Natal
2.
BMC Med Genomics ; 16(1): 298, 2023 11 20.
Artigo em Inglês | MEDLINE | ID: mdl-37986075

RESUMO

BACKGROUND: With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA). METHODS: This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isolated TE group (n = 55) and complex group (n = 76) according to structural anomalies. RESULTS: Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detection rate of SNP array was significantly higher than that of traditional chromosome karyotype analysis (P < 0.05). SNP array detected 15 (11.5%) cases of submicroscopic abnormalities that karyotype analysis did not find. The most common CNV was the 22q11.2 microdeletion. For both analyses, the overall detection rates were significantly higher in the complex TE group than in the isolated TE group (karyotype: P < 0.05; SNP array: P < 0.05). The incremental yield of chromosomal abnormalities in fetuses with unilateral TE (22.0%) was higher than in fetuses with bilateral TE (19.8%), but this difference was not statistically significant (P > 0.05). Abnormal chromosomes were most frequently detected in fetuses with TE plus cardiovascular system abnormalities. CONCLUSION: Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromosomal abnormalities associated with fetal TE, especially in pregnancies with complex TE.


Assuntos
Pé Torto Equinovaro , Gravidez , Feminino , Humanos , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/genética , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Aberrações Cromossômicas , Cariótipo Anormal , Análise em Microsséries/métodos , Feto , Variações do Número de Cópias de DNA
3.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 31(5): 1475-1480, 2023 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-37846703

RESUMO

OBJECTIVE: To investigate the role of multiple serological methods in the identification of complex antibodies. METHODS: The blood group antigens were detected by saline and microcolumn agglutination methods. The saline method was used to screen and identify IgM-type antibodies in the patient's serum, while the polybrene, anti-globulin, microcolumn agglutination, enzymic and absorption-elution methods were used to screen and identify IgG-type antibodies. RESULTS: The patient was B/CCDee/Jk(a-b+)/Fy(a-b+) blood type. The serum reacted with panel cells, and the reaction presented anti-E pattern in the saline medium. It was fully positive in the microcolumn agglutination card, except 2 negative ones after using papain to treat the panel cells. Referring to the pattern table, it was concluded that there existed anti-c, anti-E, and anti-Jka antibodies, and one antibody corresponding to an antigen that was easily destroyed by papain. The red blood cells with specific phenotype were selected for absorption-elution to identify IgG-type anti-c, anti-E, anti-Jka and anti-Fya antibodies. CONCLUSION: It is confirmed that IgM-type anti-E, and IgG-type anti-c, anti-E, anti-Jka and anti-Fya antibodies exist in the patient's serum by multiple serological methods.


Assuntos
Antígenos de Grupos Sanguíneos , Papaína , Humanos , Eritrócitos , Imunoglobulina G , Imunoglobulina M
5.
ACS Omega ; 7(22): 18339-18349, 2022 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-35694481

RESUMO

The effects of antibiotics on bacterial infections are gradually weakened, leading to the wide development of nanoparticle-based antibacterial agents with unique physical and chemical properties and antibacterial mechanisms different from antibiotics. In this study, we fabricated the uniform and stable graphene oxide (GO)/Ni colloidal nanocrystal cluster (NCNC) nanocomposite by electrostatic self-assembly and investigated its synergistic antibacterial activity against Staphylococcus aureus (S. aureus) and Escherichia coli (E. coli) in vitro. The GO/NCNC nanocomposite was shown to possess higher inhibition efficiency than a pure NCNC or GO suspension, with 99.5 and 100% inhibition against S. aureus and E. coli at a 125 µg/mL concentration, respectively. Antibacterial mechanism analysis revealed that (i) NCNCs decorated on GO can further enhance the antibacterial properties of GO by binding and capturing bacteria, (ii) the leaching of Ni2+ was detected during the interaction of GO/NCNCs and bacteria, resulting in a decrease in the number of bacteria, and (iii) the GO/NCNC nanocomposite can synergistically destroy the bacterial membrane through physical action and induce the reactive oxygen species generation, so as to further damage the cell membrane and affect ATPase, leakage of intercellular contents, and ultimately bacterial growth inhibition. Meanwhile, cell culture experiments demonstrated no adverse effect of GO/NCNCs on cell growth. These preliminary results indicate the high antibacterial efficiency of the GO/NCNC nanocomposite, suggesting the possibility to develop it into an effective antibacterial agent in the future against bacterial infections.

6.
PLoS One ; 16(4): e0250423, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33914799

RESUMO

The tight association between malnutrition and gut microbiota (GM) dysbiosis enables microbiota-targeting intervention to be a promising strategy. Thus, we used a malnourished pig model to investigate the host response and GM alterations under different diet supplementation strategies. Pigs at age of 4 weeks were fed with pure maize diet to induce malnutrition symptoms, and followed by continuous feeding with maize (Maize, n = 8) or re-feeding using either corn-soy-blend (CSB+, n = 10) or millet-soy-blend based (MSB+, n = 10) supplementary food for 3 weeks. Meanwhile, 8 pigs were fed on a standard formulated ration as control (Ref). The effect of nutritional supplementation was assessed by the growth status, blood chemistry, gastrointestinal pathology, mucosal microbiota composition and colon production of short-chain fatty acids. Compared with purely maize-fed pigs, both CSB+ and MSB+ elevated the concentrations of total protein and globulin in blood. These pigs still showed most malnutrition symptoms after the food intervention period. MSB+ had superior influence on the GM development, exhibiting better performance in both structural and functional aspects. MSB+ pigs were colonized by less Proteobacteria but more Bacteroidetes, Firmicutes and Lachnospira spp. Pearson's correlation analysis indicated a strong correlation between the abundance of mucosal e.g., Faecalibacterium and Lachnospira spp. and body weight, crown-rump length and total serum protein. In conclusion, the malnutrition symptoms were accompanied by an aberrant GM, and millet-based nutritional supplementation showed promising potentials to restore the reduced GM diversity implicated in pig malnutrition.


Assuntos
Ração Animal/análise , Dieta/métodos , Disbiose/dietoterapia , Microbioma Gastrointestinal/fisiologia , Desnutrição/dietoterapia , Milhetes/química , Animais , Bacteroidetes/genética , Bacteroidetes/crescimento & desenvolvimento , Bacteroidetes/isolamento & purificação , Biodiversidade , Proteínas Sanguíneas/agonistas , Proteínas Sanguíneas/metabolismo , Peso Corporal , Clostridiales/genética , Clostridiales/crescimento & desenvolvimento , Clostridiales/isolamento & purificação , Disbiose/microbiologia , Disbiose/patologia , Faecalibacterium/genética , Faecalibacterium/crescimento & desenvolvimento , Faecalibacterium/isolamento & purificação , Ácidos Graxos Voláteis/biossíntese , Feminino , Firmicutes/genética , Firmicutes/crescimento & desenvolvimento , Firmicutes/isolamento & purificação , Desnutrição/microbiologia , Desnutrição/patologia , Proteobactérias/genética , Proteobactérias/crescimento & desenvolvimento , Proteobactérias/isolamento & purificação , RNA Ribossômico 16S/genética , Glycine max/química , Suínos , Verrucomicrobia/genética , Verrucomicrobia/crescimento & desenvolvimento , Verrucomicrobia/isolamento & purificação , Zea mays/química
7.
Appl Microbiol Biotechnol ; 102(24): 10713-10727, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30397767

RESUMO

Weaning stress has serious negative effects on piglets' health and the swine industry. Probiotics-fermented Chinese herbal medicines are potential feed additives to ameliorate weaning stress. In this study, the effects of probiotics-fermented Massa Medicata Fermentata (MMFP) on intestinal homeostasis were evaluated in weaning piglets. Dietary supplementation with MMFP promoted the development of the intestinal structure and elevated the concentrations of lactic acid and short-chain fatty acids (SCFAs) in the intestinal contents and antioxidant capacities in serum. MMFP reduced the levels of inflammatory factors in the intestinal mucosa. Microbial community analysis demonstrated that MMFP led to the selective and progressive enrichment of lactic acid- and SCFA-producing bacteria along the gastrointestinal tract, in particular, OTUs corresponding to Lactobacillus, Streptococcus, Acetitomaculum, Roseburia, and Eubacterium xylanophilum group, while MMFP reduced the relative abundance of pathogenic bacteria. On the contrary, antibiotics had negative effects on intestinal histology and increased the relative abundance of pro-inflammatory bacterium, such as Marvinbryantia, Peptococcus, Turicibacter, and Blautia. Correlation analysis reflected that the bacteria enriched in MMFP group were positively correlated with enhanced intestinal homeostasis, which suggested that dietary supplementation with MMFP enhanced host intestinal homeostasis by modulating the composition of gut microbiota and the levels of beneficial SCFAs, thus ameliorating weaning stress in piglets.


Assuntos
Medicamentos de Ervas Chinesas/farmacologia , Mucosa Intestinal/efeitos dos fármacos , Probióticos/farmacologia , Estresse Fisiológico/efeitos dos fármacos , Desmame , Ração Animal , Animais , Antioxidantes/análise , Suplementos Nutricionais , Fezes/microbiologia , Fermentação , Microbioma Gastrointestinal/efeitos dos fármacos , Microbioma Gastrointestinal/genética , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patologia , Intestinos/efeitos dos fármacos , Intestinos/crescimento & desenvolvimento , Suínos
8.
Infect Immun ; 86(1)2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29061705

RESUMO

Postfermented Pu-erh tea (PE) protects against metabolic syndrome (MS), but little is known regarding its underlying mechanisms. Animal experiments were performed to determine whether the gut microbiota mediated the improvement in diet-induced MS by PE and its main active components (PEAC). We confirmed that PE altered the body composition and energy efficiency, attenuated metabolic endotoxemia and systemic and multiple-tissue inflammation, and improved the glucose and lipid metabolism disorder in high-fat diet (HFD)-fed mice via multiple pathways. Notably, PE promoted the lipid oxidation and browning of white adipose tissue (WAT) in HFD-fed mice. Polyphenols and caffeine (CAF) played critical roles in improving these parameters. Meanwhile, PE remodeled the disrupted intestinal homeostasis that was induced by the HFD. Many metabolic changes observed in the mice were significantly correlated with alterations in specific gut bacteria. Akkermansia muciniphila and Faecalibacterium prausnitzii were speculated to be the key gut bacterial links between the PEAC treatment and MS at the genus and species levels. Interestingly, A. muciniphila administration altered body composition and energy efficiency, promoted the browning of WAT, and improved the lipid and glucose metabolism disorder in the HFD-fed mice, whereas F. prausnitzii administration reduced the HFD-induced liver and intestinal inflammatory responses. In summary, polyphenol- and CAF-rich PE improved diet-induced MS, and this effect was associated with a remodeling of the gut microbiota.


Assuntos
Cafeína/farmacologia , Microbioma Gastrointestinal/efeitos dos fármacos , Homeostase/efeitos dos fármacos , Intestinos/efeitos dos fármacos , Síndrome Metabólica/tratamento farmacológico , Polifenóis/farmacologia , Chá/química , Animais , Linhagem Celular , Linhagem Celular Tumoral , Dieta Hiperlipídica/efeitos adversos , Endotoxemia/tratamento farmacológico , Endotoxemia/microbiologia , Células HEK293 , Células HeLa , Humanos , Inflamação/tratamento farmacológico , Inflamação/microbiologia , Intestinos/microbiologia , Metabolismo dos Lipídeos/efeitos dos fármacos , Fígado/efeitos dos fármacos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Microbiota/efeitos dos fármacos
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