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1.
Am J Otolaryngol ; 43(1): 103189, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34492426

RESUMO

BACKGROUND: To analyze the clinical efficacy of intratympanic steroid perfusion (ISP) and postauricular steroid injection (PSI) for refractory severe and profound sudden sensorineural hearing loss (SSNHL). METHODS: SSNHL patients who failed a conventional treatment with severe to profound hearing loss [pure tone average (PTA, 0.25-8 kHz) > 60 dB] were treated with ISP or PSI plus antioxidant and neurotrophin for 10 consecutive days. Antioxidant and neurotrophin were administrated either intravenously and/or orally. All patients were assigned into the ISP group or the PSI group and followed up for more than three months. The changes in PTA, effective rate and side effects were analyzed in the two groups. RESULTS: Similar hearing improvements and effective rates were observed in the two groups. However, a slightly better efficacy was observed in the PSI group compared to the ISP group. Patients with shorter intervals from onset to treatment had significantly more hearing improvements. The route of antioxidant and neurotrophin administration had no impact on treatment effects. CONCLUSION: Both ISP and PSI could be used as salvage treatments for refractory SSNHL. These salvage treatments should be started as soon as possible once SSNHL patients fail a conventional treatment.

2.
Nanoscale ; 13(30): 12848-12853, 2021 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-34477769

RESUMO

Nucleic acid nanostructures are promising biomaterials for the delivery of homologous gene therapy drugs. Herein, we report a facile strategy for the construction of target mRNA (scaffold) and antisense (staple strands) co-assembled RNA/DNA hybrid "origami" for efficient gene therapy. In our design, the mRNA was folded into a chemically well-defined nanostructure through RNA-DNA hybridization with high yield. After the incorporation of an active cell-targeting aptamer, the tailored RNA/DNA hybrid origami demonstrated efficient cellular uptake and controllable release of antisenses in response to intracellular RNase H digestion. The biocompatible RNA/DNA origami (RDO) elicited a noticeable inhibition of cell proliferation based on the silencing of the tumor-associated gene polo-like kinase 1 (PLK1). This RDO-based nanoplatform provides a novel strategy for the further development of gene therapy.


Assuntos
Nanoestruturas , RNA , DNA/genética , Terapia Genética , Conformação de Ácido Nucleico , Hibridização de Ácido Nucleico , RNA/genética
3.
Clin Biochem ; 96: 33-37, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34245694

RESUMO

OBJECTIVE: We discuss how to handle failure of first-pass non-invasive prenatal screening (NIPS) and investigate the pregnancy outcomes after second-pass failure. METHODS: A total of 35,187 pregnant women underwent NIPS in a single center. Those who failed first-pass NIPS were re-tested after a repeat blood draw. Those who failed again were offered genetic counseling. We recorded antenatal data and pregnancy outcomes. RESULTS: A total of 273 (0.78%) women failed the first test. On re-testing, 220 (80.59%) yielded reliable results and 53 failed the test again. Women with higher total cell-free DNA (cfDNA) levels evidenced a lower NIPS success rate (40%) and a higher incidence of adverse pregnancy outcomes. CONCLUSIONS: Most women who failed first-pass NIPS yielded reliable results on repeat testing, especially those with lower fetal fraction. Higher concentrations of cfDNA in maternal plasma were associated with poorer pregnancy outcomes. Such women require special attention, thus early medical intervention, to avoid an adverse prognosis.


Assuntos
Ácidos Nucleicos Livres , Aconselhamento Genético , Complicações na Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Adulto , Ácidos Nucleicos Livres/sangue , Ácidos Nucleicos Livres/genética , Feminino , Humanos , Gravidez , Complicações na Gravidez/sangue , Complicações na Gravidez/genética
4.
ACS Appl Mater Interfaces ; 13(18): 20974-20981, 2021 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-33909408

RESUMO

The CRISPR/Cas9 gene-editing system has become a promising strategy for tumor therapy with its powerful oncogene-editing ability. However, the efficient delivery of sgRNA/Cas9 complex into target tumor cells remains a challenge. Herein, we report a facile strategy for the construction of an sgRNA/Cas9 complex co-assembled nanoplatform for targeted gene editing and combined tumor therapy. In our design, the TAT peptide and thiolated DNA linker functionalized gold nanorod can efficiently load the sgRNA/Cas9 complex through the hybridization between the 3' overhang of sgRNA and the DNA linker. Due to the integration of an active cell targeting group (aptamer) and nuclear targeting peptide (TAT), the multifunctional nanoplatform can elicit the targeted cellular internalization and efficient nuclear targeting transportation to realize endogenous RNase H activated gene editing of the tumor-associated gene polo-like kinase 1 (PLK1). With mild photothermal treatment, this sgRNA/Cas9 complex loaded nanoplatform achieved efficient inhibition of tumor cell proliferation. This multifunctional nanocarrier provides a new strategy for the development of combined tumor therapy.


Assuntos
Edição de Genes , Ouro/química , Nanotubos/química , Neoplasias/terapia , Ácidos Nucleicos/química , Sistemas CRISPR-Cas , Proliferação de Células , Terapia Combinada , Humanos , Células MCF-7 , Microscopia Confocal , Neoplasias/patologia
5.
Nat Mater ; 20(3): 421-430, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32895504

RESUMO

A major challenge in cancer vaccine therapy is the efficient delivery of antigens and adjuvants to stimulate a controlled yet robust tumour-specific T-cell response. Here, we describe a structurally well defined DNA nanodevice vaccine generated by precisely assembling two types of molecular adjuvants and an antigen peptide within the inner cavity of a tubular DNA nanostructure that can be activated in the subcellular environment to trigger T-cell activation and cancer cytotoxicity. The integration of low pH-responsive DNA 'locking strands' outside the nanostructures enables the opening of the vaccine in lysosomes in antigen-presenting cells, exposing adjuvants and antigens to activate a strong immune response. The DNA nanodevice vaccine elicited a potent antigen-specific T-cell response, with subsequent tumour regression in mouse cancer models. Nanodevice vaccination generated long-term T-cell responses that potently protected the mice against tumour rechallenge.


Assuntos
Vacinas Anticâncer/imunologia , Melanoma Experimental/terapia , Vacinas de DNA/genética , Vacinas de DNA/imunologia , Adjuvantes Imunológicos/administração & dosagem , Animais , Apresentação do Antígeno , Bacteriófago M13/genética , Vacinas Anticâncer/administração & dosagem , Vacinas Anticâncer/genética , Testes Imunológicos de Citotoxicidade , Células Dendríticas/efeitos dos fármacos , Células Dendríticas/imunologia , Concentração de Íons de Hidrogênio , Imunoterapia/métodos , Metástase Linfática/prevenção & controle , Linfócitos do Interstício Tumoral/efeitos dos fármacos , Linfócitos do Interstício Tumoral/imunologia , Melanoma Experimental/imunologia , Melanoma Experimental/patologia , Camundongos Endogâmicos C57BL , Vacinas de DNA/administração & dosagem
7.
Angew Chem Int Ed Engl ; 60(4): 1853-1860, 2021 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-33058467

RESUMO

Chemically modified DNA has been widely developed to fabricate various nucleic acid nanostructures for biomedical applications. Herein, we report a facile strategy for construction of branched antisense DNA and small interfering RNA (siRNA) co-assembled nanoplatform for combined gene silencing in vitro and in vivo. In our design, the branched antisense can efficiently capture siRNA with 3' overhangs through DNA-RNA hybridization. After being equipped with an active targeting group and an endosomal escape peptide by host-guest interaction, the tailored nucleic acid nanostructure functions efficiently as both delivery carrier and therapeutic cargo, which is released by endogenous RNase H digestion. The multifunctional nucleic acid nanosystem elicits an efficient inhibition of tumor growth based on the combined gene silencing of the tumor-associated gene polo-like kinase 1 (PLK1). This biocompatible nucleic acid nanoplatform presents a new strategy for the development of gene therapy.


Assuntos
Inativação Gênica , Terapia Genética , Nanopartículas/química , Neoplasias/terapia , RNA Antissenso/química , RNA Interferente Pequeno/química , Animais , Células HeLa , Humanos , Camundongos , Camundongos Endogâmicos BALB C , Neoplasias/patologia , Estudo de Prova de Conceito , Interferência de RNA
8.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(12): 1273-1278, 2020 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-33327997

RESUMO

OBJECTIVE: To study the application of ponderal index (PI), body mass index (BMI), mid-arm circumference/head circumference (MAC/HC), and Clinical Assessment of Nutritional Status (CANS) score in assessing the nutritional status of neonates at birth, and to find a simple and reliable scheme for the assessment of fetal nutritional status. METHODS: PI, BMI, MAC/HC, and CANS were used to assess the nutritional status of full-term infants and preterm infants shortly after birth. The assessment results of these methods were analyzed. RESULTS: Among the 678 full-term infants, 61, 102, 47, and 131 were diagnosed with malnutrition by PI, BMI, MAC/HC, and CANS respectively. Among the 140 preterm infants, 30, 87, 9, and 112 were diagnosed with malnutrition by PI, BMI, MAC/HC, and CANS respectively. The combination of BMI and CANS had a detection rate of 99.3% in full-term infants and 100% in preterm infants. Compared with the single method, the combination significantly improved the detection rate of malnutrition (P < 0.05), while there was no significant difference between the combination of BMI+CANS and the combination of PI+BMI+CANS (P > 0.05). CONCLUSIONS: The combination of BMI+CANS can reduce the rate of missed diagnosis of fetal malnutrition. It is therefore a simple and reliable method for the assessment of fetal malnutrition.


Assuntos
Transtornos da Nutrição Fetal/diagnóstico , Avaliação Nutricional , Índice de Massa Corporal , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Estado Nutricional
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(11): 1257-1260, 2020 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-33179234

RESUMO

OBJECTIVE: To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome. METHODS: Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing. RESULTS: Analysis of amniotic fluid showed that the fetus has carried a heterozygous c.139+1G>T splicing site variant [Chr9(GRCh37): g.129376868G>T] of the LMX1B gene, which was verified by Sanger sequencing. The same heterozygous variant was found in the pregnant woman, her daughter and her mother but not in her husband. Searching of HGMD database showed that the c.139+1G>T was previously unreported. CONCLUSION: Nail-patella syndrome is an autosomal dominant genetic disorder with various clinical manifestations. WES is helpful for its genetic and prenatal diagnosis.


Assuntos
Síndrome da Unha-Patela , Diagnóstico Pré-Natal , Feminino , Heterozigoto , Humanos , Mutação , Síndrome da Unha-Patela/diagnóstico , Síndrome da Unha-Patela/genética , Linhagem , Gravidez , Sequenciamento Completo do Exoma
10.
PLoS Negl Trop Dis ; 14(10): e0008674, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33027249

RESUMO

Schistosomiasis caused by Schistosoma japonicum is a public health concern in China, and Hubei is one of the most affected provinces. Although the routine surveillance since the mid 1950s has generated substantial data pertaining to the habitats of the intermediate snail host, Oncomelania hupensis, its spatiotemporal distribution is not known. A review of local chronicles on the annual records of schistosomiasis control program was conducted to retrospectively collect information about O. hupensis habitats. The habitats were mapped by a field survey in 2016. We categorized the habitats into five evolutionary types, namely, Type I, current habitat; Types II-IV, historical habitat; and Type V, suspected habitat according to habitat development. The shape of habitats was determined using geographical information systems. A visual database was established and managed on the ArcGIS platform. A total of 43 472 O. hupensis habitats, covering an area of approximately 430 000 hectares, were identified through the study. Over 60% of these habitats have been eliminated. The highest number of O. hupensis habitats was recorded in 1975; however, most of them were preserved until 1995. Our study, for the first time, sheds light on the spatiotemporal distribution of O. hupensis in the most affected province in China. The data will be valuable for policy making and for formulating strategies to eliminate schistosomiasis in Hubei Province.


Assuntos
Schistosoma japonicum/fisiologia , Caramujos/parasitologia , Distribuição Animal , Animais , Evolução Biológica , China , Reservatórios de Doenças , Ecossistema , Caramujos/genética , Fatores de Tempo
11.
BMC Cancer ; 20(1): 1029, 2020 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-33109127

RESUMO

BACKGROUND: Cervical cancer is the leading cause of cancer-related death in women worldwide. However, the mechanisms mediating the development and progression of cervical cancer are unclear. In this study, we aimed to elucidate the roles of microRNAs and a1-chimaerin (CHN1) protein in cervical cancer progression. METHODS: The expression of miR-205 and CHN1 protein was investigated by in situ hybridisation and immunohistochemistry. We predicted the target genes of miR-205 using software prediction and dual luciferase assays. The expression of mRNAs and proteins was tested by qRT-PCR and western blotting respectively. The ability of cell growth, migration and invasion was evaluated by CCK-8 and transwell. Cell apoptosis was analysed by flow cytometry analysis. RESULTS: We found that miR-205 and CHN1 were highly expressed in human cervical cancer tissue compared with paired normal cervical tissues. The CHN1 gene was shown to be targeted by miR-205 in HeLa cells. Interestingly, transfection with miR-205 mimic upregulated CHN1 mRNA and protein, while miR-205 inhibitor downregulated CHN1 in high-risk and human papilloma virus (HPV)-negative human cervical cancer cells in vitro,. These data suggested that miR-205 positively regulated the expression of CHN1. Furthermore, the miR-205 mimic promoted cell growth, apoptosis, migration, and invasion in high-risk and HPV-negative cervical cancer cells, while the miR-205 inhibitor blocked these biological processes. Knockdown of CHN1 obviously reduced the aggressive cellular behaviours induced by upregulation of miR-205, suggesting that miR-205 positively regulated CHN1 to mediate these cell behaviours during the development of cervical cancer. Furthermore, CHN1 was correlated with lymph node metastasis in clinical specimens. CONCLUSIONS: Our findings showed that miR-205 positively regulated CHN1 to mediate cell growth, apoptosis, migration, and invasion during cervical cancer development, particularly for high-risk HPV-type cervical cancer. These findings suggested that dysregulation of miR-205 and subsequent abnormalities in CHN1 expression promoted the oncogenic potential of human cervical cancer.


Assuntos
Quimerina 1/genética , Metástase Linfática/genética , MicroRNAs/genética , Regulação para Cima , Neoplasias do Colo do Útero/genética , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Quimerina 1/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica , Técnicas de Silenciamento de Genes , Células HeLa , Humanos , Neoplasias do Colo do Útero/metabolismo
12.
Adv Healthc Mater ; 9(19): e2001046, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32864890

RESUMO

During the past decades, nucleic acids have been employed for the construction of versatile nanostructures with well-defined shapes and sizes. Owing to the remarkable programmability, addressability, and biocompatibility, nucleic acid nanostructures are extensively applied in biomedical researches, such as bioimaging, biosensing, and drug delivery. In particular, nucleic acid nanostructures can act as promising candidates for the delivery of gene-related nucleic acid drugs based on the inherent homology. In this review, the recent progress in the design of multifunctional nucleic acid nanocarriers for gene therapy through antisense, RNA interference, gene editing, and gene expression is summarized. Furthermore, the challenges and future opportunities of nucleic acid nanotechnology in biomedical applications will be discussed.


Assuntos
Nanoestruturas , Ácidos Nucleicos , DNA , Sistemas de Liberação de Medicamentos , Terapia Genética , Nanotecnologia
13.
Int J Infect Dis ; 99: 179-185, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32738482

RESUMO

OBJECTIVES: Progress in national schistosomiasis control in China has successfully reduced disease transmission in many districts. However, a low transmission rate hinders conventional snail surveys in identifying areas at risk. In this study, Schistosoma japonicum-infected sentinel mice surveillance was conducted to identify high-risk areas of schistosomiasis transmission in Hubei province, China. METHODS: The risk of schistosomiasis transmission was assessed using sentinel mice monitoring in Hubei province from 2010 to 2018. Field detections were undertaken in June and September, and the sentinel mice were kept for approximately 35 days in a laboratory. They were then dissected to determine whether schistosome infection was present. Ripley's K-function and kernel density estimation were applied to analyze the spatial distribution and positive point pattern of schistosomiasis transmission. RESULTS: In total, 190 sentinel mice surveillance sites were selected to detect areas of schistosomiasis infection from 2010 to 2018, with 29 (15.26%) sites showing infected mice. Of 4723 dissected mice, 256 adult worms were detected in 112 infected mice. The infection rate was 2.37%, with an average of 2.28 worms detected per infected mouse. Significantly more infected mice were detected in the June samples than in the September samples (χ2=12.11, p<0.01). Ripley's L(d) index analysis showed that, when the distance was ≤34.52km, the sentinel mice infection pattern showed aggregation, with the strongest aggregation occurring at 7.86km. Three hotspots were detected using kernel density estimation: at the junction of Jingzhou District, Gong'an County, and Shashi District in Jingzhou City; in Wuhan City at the border of the Huangpi and Dongxihu Districts, and in the Hannan and Caidian Districts. CONCLUSION: The results showed that sentinel mice surveillance is useful in identifying high-risk areas, and could provide valuable information for schistosomiasis prevention and control, especially concerning areas along the Yangtze River, such as the Fu-Lun, Dongjing-Tongshun, and Juzhang River basins.


Assuntos
Schistosoma japonicum , Esquistossomose Japônica/epidemiologia , Vigilância de Evento Sentinela , Animais , Animais Selvagens/parasitologia , China/epidemiologia , Cidades , Humanos , Masculino , Camundongos/parasitologia , Medição de Risco , Rios , Esquistossomose Japônica/transmissão , Caramujos/parasitologia , Análise Espacial
14.
ACS Appl Mater Interfaces ; 12(29): 32461-32467, 2020 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-32613824

RESUMO

DNA nanostructures have garnered considerable interest as research tools in the field of cell biology and pathology. Herein, we develop an addressable double-bundle DNA tetrahedron with distinct modification sites to load multiple functional components for efficient regulation of gene expression. In our tailored nanoplatform, nucleic acid drugs (antisense for gene therapy) and protein drugs (KillerRed for photodynamic therapy) are precisely organized in the chemically well-defined DNA tetrahedron. With the attachment of active targeting groups, this functional DNA nanocarrier can efficiently penetrate into the cell membrane and subsequently transport drugs to the target subcellular organelles (mitochondrion and nucleus) for inducing synergistic cell behavior regulation to start the endogenous apoptotic process. This tailored DNA nanocarrier provides unprecedented opportunities for intelligent drug delivery and cell biology research.


Assuntos
DNA/química , Portadores de Fármacos/química , Sistemas de Liberação de Medicamentos , Regulação da Expressão Gênica/efeitos dos fármacos , Terapia Genética , Humanos , Nanoestruturas/química , Tamanho da Partícula , Fotoquimioterapia , Propriedades de Superfície
15.
Chem Commun (Camb) ; 56(68): 9894-9897, 2020 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-32720666

RESUMO

A terminal-closed linear gene with strong exonuclease resistance and serum stability was successfully constructed by polymerase chain reaction (PCR) with an α-l-threose nucleic acid (TNA) loop modified primer pair, which can be used as an efficient gene expression system in eukaryotic cells for gene delivery.


Assuntos
Primers do DNA/química , Ácidos Nucleicos/química , Tetroses/química , Transfecção/métodos , Primers do DNA/metabolismo , Expressão Gênica , Proteínas de Fluorescência Verde/genética , Proteínas de Fluorescência Verde/metabolismo , Células HEK293 , Humanos , Microscopia de Fluorescência , Plasmídeos/genética , Plasmídeos/metabolismo , Reação em Cadeia da Polimerase
16.
Infect Dis Poverty ; 9(1): 63, 2020 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-32505216

RESUMO

BACKGROUND: A steady progress on schistosomiasis control in the Peoples' Republic of China (P.R. China) was achieved and broadened into the twelve-year medium and long term national plan (MLNP) which marled the implementation of an integrated control strategy across all endemic areas in P.R. China in 2004. To understand the endemic trends of schistosomiasis to assess the effectiveness of an integrated strategy, we conducted an analysis of schistosomiasis surveillance data spanned from 2005 to 2015. METHODS: The schistosomiasis sentinel surveillance data from sentinel sites were collected and analyzed from 2005 to 2015. In these sentinel sites, residents aged 6 years or above were screened annually by indirect hemagglutination assay (IHA), while only antibody positives were followed by stool examination either Kato-katz method (KK) and/or hatching technique (HT). Domestic animals raised in sentinel sites were examined by HT for confirming the infection of schistosomes. Snail investigation was conducted each year through systematic sampling method combined with environmental sampling method. The snails collected from field were tested by microscopic dissection method. The infection rates of schistosomes in residents, domestic animals and snails, as well as the indicators reflecting the snails' distribution were calculated and analyzed. ANOVA analysis was used to examine the changes of the number of eggs per gram feces in population and Chi-square test was used to examine any change in proportions among groups. RESULTS: A total of 148 902 residents from sentinel sites attended this study and 631 676 blood samples were examined by IHA test during the 11 covered years. The annual average antibody positive rates presented a significant decrease trends, from 17.48% (95% CI: 17.20-17.75%) in 2005 to 5.93% (95% CI: 5.71-6.15%) (χ2 = 8890.47, P < 0.001) in 2015. During 2005-2015, the average infection rate of schistosomes in residents declined from 2.07% (95% CI: 1.96-2.17%) to 0.13% (95% CI: 0.09-0.16%), accompanied by significant decrease of infection intensity in population. In 2015, the stool positives were only found in farmers, fishermen and boatmen with infection rate of 0.16% (95% CI: 0.11-0.20%), 0.17% (95% CI: 0-0.50%) respectively. The infection rate of schistosomes in domestic animals dropped from 9.42% (538/5711, 95% CI: 8.66-10.18%) to 0.08% (2/2360, 95% CI: 0-0.20%) from 2005 to 2015. Infections were found in eight species of domestic animals at the beginning of surveillance while only two cattle were infected in 2015. Totally 98 ha of new snail habitats were found, while 94.90% (93/98) distributed in lake and marshland regions. The percentage of frames with snails decreased from 16.96% (56 884/33 5391, 95% CI: 16.83-17.09%) in 2005 to 4.28% (18 121/423 755, 95% CI: 4.22-4.34%) in 2014, with a slightly increase in 2015. Meanwhile, the infection rate of schistosomes in snails was decreased from 0.26% (663/256 531, 95% CI: 0.24-0.28%) to zero during 2005-2015. CONCLUSIONS: The infection rate of schistosomes declined significantly, providing evidence that the goal of the MLNP was achieved. Elimination of schistosomiasis as a public health problem defined as WHO was also reached in P.R. China nationwide. Surveillance-response system should be improved and strengthened to realize the final goal of schistosomiasis elimination.


Assuntos
Animais Domésticos , Esquistossomose , Vigilância de Evento Sentinela , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Criança , China/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Saúde Pública , Esquistossomose/epidemiologia , Esquistossomose/prevenção & controle , Esquistossomose/transmissão , Esquistossomose/veterinária , Caramujos/parasitologia , Adulto Jovem
17.
Placenta ; 96: 27-33, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32560855

RESUMO

OBJECTIVE: The purpose of this study was to explore the association of fibrin/fibrinogen degradation products (FDP) levels with the risk of macrosomia, and determine whether FDP, either alone or combined with traditional factors in late pregnancy, could be used to predict macrosomia at birth in healthy pregnancies. METHODS: A total of 9464 health pregnant women with singleton pregnancy were recruited in this retrospective cohort study. Maternal plasma FDP levels at hospital admission and birth outcomes were obtained from laboratory system and hospital records, respectively. RESULTS: FDP levels in late pregnancy were significant higher in women who delivered macrosomia than those who delivered infants with normal weight [median (interquartile range, IQR): 8.2 (5.8-11.9) vs. 6.6 (4.7-9.6) mg/L; P < 0.001]. Multivariable logistic regression analysis demonstrated that FDP levels were independently associated with macrosomia risk. Pregnant women in the highest quartile of FDP had a 2.99-fold higher risk of delivering macrosomia compared with those in the lowest (adjusted OR: 2.99; 95% CI: 2.27-3.93). In addition, the incorporation of FDP into the crude prediction model significantly improved the area under curve (AUC) for predicting macrosomia (0.774 vs. 0.787; P < 0.001). CONCLUSION: Our findings suggest that maternal plasma FDP levels in late pregnancy are independently and significantly associated with risk of macrosomia. Combination of FDP levels and traditional risk factors could promote the prediction of macrosomia.


Assuntos
Macrossomia Fetal/diagnóstico , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Fibrina/metabolismo , Fibrinogênio/metabolismo , Adulto , Biomarcadores/sangue , Feminino , Macrossomia Fetal/sangue , Humanos , Gravidez , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(6): 617-620, 2020 Jun 10.
Artigo em Chinês | MEDLINE | ID: mdl-32472536

RESUMO

OBJECTIVE: To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT). METHODS: Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing. RESULTS: Sex chromosomal abnormalities were found in 8 women, which yielded an abnormal rate of 22.22% (8/36). Among these, 3 had sex chromosome aneuploidies (47, XXX), 4 had sex chromosome mosaicisms, and 1 carried structural chromosomal abnormalities. Reanalysis of the results of NIPT were consistent with the maternal CNVs by large. With the ratio of cffDNA (ChrX)/cffDNA was more than 2, 6 of the eight women were found to harbor sex chromosome abnormalities, and the fetal karyotype was normal. However, with a ratio of less than 2, only 2 of the 38 pregnant women had sex chromosome abnormalities, and 10 of the fetuses were confirmed as positive. CONCLUSION: The presence of maternal sex chromosomal abnormalities can greatly influence the result of NIPT, which may also be an important reason for false prediction for fetal SCAs by NIPT. When NIPT indicates abnormal SCAs, it is necessary to analyze maternal sex chromosomes. The ratio of cffDNA(ChrX)/cffDNA may help to determine the source of abnormal signals.


Assuntos
Aneuploidia , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Cromossomos Sexuais
19.
J Trace Elem Med Biol ; 61: 126516, 2020 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-32302923

RESUMO

BACKGROUND AND AIMS: A systemic inflammatory response complicates the evaluation of iron status during pregnancy. We investigated the magnitude of this effect on indices of iron status in late pregnancy. METHODS: We retrospectively interrogated laboratory data and hospitalisation records from April 2016 to March 2017 and obtained results from pregnant women in which serum high-sensitivity C-reactive protein (hsCRP) or albumin had been examined together with indicators of iron status (serum ferritin [SF] and serum transferrin [ST], n = 11,571). We assessed the association of the inflammatory response, as evidenced by hsCRP and albumin, with iron status indicators by general linear regression analysis. RESULT: Compared to women with an hsCRP of ≤ 5 mg/L, the median SF level in those with an hsCRP of 6-10, 11-20, and > 20 mg/L significantly increased by 2.24 µg/L (95 % confidence interval [CI]: 1.22, 3.26), 4.04 µg/L (95 % CI: 2.05, 6.04), and 13.49 µg/L (95 % CI: 10.44, 16.53); while the ST level decreased by 0.10 g/L (95 % CI: 0.13, 0.06), 0.16 g/L (95 % CI: 0.23, 0.09), and 0.21 g/L (95 % CI: 0.32, 0.11), respectively (all P < 0.001). With regard to the association of inflammation with SF and ST, no significant interaction between albumin (< 35 and ≥ 35 g/L) and hsCRP was observed (SF: P for interaction = 0.426; ST: P for interaction = 0.872). CONCLUSIONS: Measurement of hsCRP in late pregnancy is necessary to correct the levels of SF and ST. The impact of the inflammatory response on indices of iron status in late pregnancy could not be adjusted by albumin.

20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 186-189, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034752

RESUMO

OBJECTIVE: To detect chromosomal aberrations in two fetuses with multiple malformation. METHODS: The two fetuses were subjected to chromosomal microarray analysis (CMA) by using Affymetrix CytoScan 750K arrays. The results were analyzed by bioinformatic software. RESULTS: CMA analysis suggested that both fetuses harbored pathogenic copy number variations (CNVs) in the 2p15-16.1 region, which ranged from 255 kb to 257 kb and encompassed the XPO1 and USP34 genes. CONCLUSION: Deletion of the chr2 (61 659 957-61 733 075, hg19) encompassing the XPO1 and USP34 genes may underlie the multiple malformations in the two fetuses.


Assuntos
Deleção Cromossômica , Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal , Feminino , Humanos , Análise em Microsséries , Gravidez , Síndrome , Proteases Específicas de Ubiquitina
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