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1.
Phys Chem Chem Phys ; 23(36): 20489-20495, 2021 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-34499059

RESUMO

As there is a rising interest in upgrading cellulose to high-performance bio-products, the studies on innovative reaction media and processes have been leaping forward. Green solvents in terms of cellulose dissolution and brief processes for upgrading are critical to green chemistry. However, most solvent systems generally exhibit defects in harsh pH operating windows with limited temperature ranges, environmental pollution, long reaction times, complicated processes, etc. In this work, we have provided a novel molten salt hydrate (CaCl2·6H2O-LiCl) as a green solvent and investigated the role of hydrated molten salts in the dissolution process via the solid state nuclear magnetic resonance (NMR) technique. The cellulose could be dissolved in CaCl2·6H2O-LiCl molten salt hydrated at 120 °C with 3.0% solubility and regenerated in-situ by cooling down to ambient temperature. The regenerated cellulose exhibited a high solubility and excellent stability. From 7Li single pulse NMR experiments, it was observed that two types of Li+ existed in the cellulose dissolution, and the Li+ significantly impacted the dissolving process and the dissolution ability of cellulose. This work would provide an environmental-friendly strategy to prepare cellulose solutions for biocompatible cellulose materials.

2.
Surg Innov ; : 15533506211045318, 2021 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-34549663

RESUMO

BACKGROUND: Stomach cancer is the fourth most common type of cancer worldwide. TCN1 mainly encodes the vitamin B12 transporter, transcobalamin. TCN1 is a marker of gastrointestinal tumor progression, but the impact of TCN1 on survival is unclear. MATERIAL/METHODS: Gastrointestinal tumor records were reviewed and analyzed, clinicopathological data were summarized, immunohistochemical detection of TCN1 was performed again, and the protein expression in tumor tissue, non-tumor tissue, and lymph nodes was semi-quantitatively analyzed. Patients were followed up for 5 years to determine the 5-year survival rates. RESULTS: The strong immune reactivity of the TCN1 protein was significantly correlated with tumor invasion depth, regional lymph nodes, and a tumor diameter of >5 cm (Z = -2.531 and P = .016; Z = 3.785 and P < .001; Z = 2.541 and P = .049). Kaplan-Meier survival analysis showed that the total survival time of patients in the low-expression TCN1 group was significantly longer than that in the high-expression TCN1 group (P = .001; Table 2 and Figure 5). The mean survival time of all patients was 49.774 months (95% CI: 47.871-51.676; Table 4) and the 5-year overall survival rates were 73.3, 50.8, and 34.0%, respectively. Multivariate analysis revealed that regional lymph nodes (HR = 1.253; 95% CI: 1.031-1.747, P = .012), TCN1 immune expression status (HR = 2.707; 95% CI: 1.068-1.886, P = .016), and pTNM staging (HR = 2.293; 95% CI: 1.583-3.321; P = .001) were independent risk factors for poor survival. CONCLUSION: The high expression of TCN1 in gastric tumor tissues was found to be associated with the clinicopathological factors of patients, and the high expression of TCN1 was shown to indicate a poor clinical prognosis.

3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 853-856, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487529

RESUMO

OBJECTIVE: To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS). METHODS: 4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019. RESULTS: SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2.0 Mb microdeletion, and two fetuses had 1.0 Mb microdeletion. The 1.0 Mb microdeletion in 22q11 region contains SNAP29 and CRKL genes, which may increase the risk of congenital renal malformation and cardiovascular malformation. CONCLUSION: Prenatal ultrasonic characteristics of fetuses with 22q11 microdeletion syndrome vary, and SNP array is a powerful tool to diagnose such diseases, which can provide accurate genetic diagnosis and enable prenatal diagnosis.


Assuntos
Síndrome da Deleção 22q11/diagnóstico por imagem , Diagnóstico Pré-Natal , Ultrassom , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Feminino , Feto , Testes Genéticos , Humanos , Gravidez
4.
J Clin Lab Anal ; : e23982, 2021 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-34480509

RESUMO

Thalassaemia is highly prevalent in southeastern China. This 10-year follow-up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying α-thalassaemia traits and 224 samples from 223 couples carrying ß-thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional α-thalassemias and rare thalassemia genotypes were detected using Gap-PCR assay, and the common ß-globin gene mutations were detected using PCR-RDB assay. We detected 43.49% prevalence of α-thalassaemia minor, 26.05% prevalence of α-thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with α-thalassaemia, and 85 fetuses with ß-thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare ßIVS-2-654(C→T) /Chinese Gγ (A γδß)0  genotype among the 224 prenatal samples from couples with ß-thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with α-thalassemia and ß-thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits.

5.
J Cell Mol Med ; 25(18): 8929-8935, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34405543

RESUMO

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2-4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.

6.
J Clin Lab Anal ; 35(9): e23945, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34398996

RESUMO

BACKGROUND: MicroRNAs (miRNAs) participate in the reactivation of γ-globin expression in ß-thalassemia. However, the miRNA transcriptional profiles of pediatric ß-thalassemia remain unclear. Accordingly, in this study, we assessed miRNA expression in pediatric patients with ß-thalassemia. METHODS: Differentially expressed miRNAs in pediatric patients with ß-thalassemia were determined using microRNA sequencing. RESULTS: Hsa-miR-483-3p, hsa-let-7f-1-3p, hsa-let-7a-3p, hsa-miR-543, hsa-miR-433-3p, hsa-miR-4435, hsa-miR-329-3p, hsa-miR-92b-5p, hsa-miR-6747-3p and hsa-miR-495-3p were significantly upregulated, whereas hsa-miR-4508, hsa-miR-20a-5p, hsa-let-7b-5p, hsa-miR-93-5p, hsa-let-7i-5p, hsa-miR-6501-5p, hsa-miR-221-3p, hsa-let-7g-5p, hsa-miR-106a-5p, and hsa-miR-17-5p were significantly downregulated in pediatric patients with ß-thalassemia. After integrating our data with a previously published dataset, we found that hsa-let-7b-5p and hsa-let-7i-5p expression levels were also lower in adolescent or adult patients with ß-thalassemia. The predicted target genes of hsa-let-7b-5p and hsa-let-7i-5p were associated with the transforming growth factor ß receptor, phosphatidylinositol 3-kinase/AKT, FoxO, Hippo, and mitogen-activated protein kinase signaling pathways. We also identified 12 target genes of hsa-let-7a-3p and hsa-let-7f-1-3p and 21 target genes of hsa-let-7a-3p and hsa-let-7f-1-3p, which were differentially expressed in patients with ß-thalassemia. Finally, we found that hsa-miR-190-5p and hsa-miR-1278-5p may regulate hemoglobin switching by modulation of the B-cell lymphoma/leukemia 11A gene. CONCLUSION: The results of the study show that several microRNAs are dysregulated in pediatric ß-thalassemia. Further, the results also indicate toward a critical role of let7 miRNAs in the pathogenesis of pediatric ß-thalassemia, which needs to be investigated further.

7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 735-739, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365613

RESUMO

OBJECTIVE: To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling. METHODS: We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses. RESULTS: Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb. CONCLUSION: Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.


Assuntos
Síndrome de Wolf-Hirschhorn , Cromossomos Humanos Par 4/genética , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/genética , Humanos , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Síndrome de Wolf-Hirschhorn/genética
8.
Sensors (Basel) ; 21(16)2021 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-34450760

RESUMO

To overcome the limitation in flight time and enable unmanned aerial vehicles (UAVs) to survey remote sites of interest, this paper investigates an approach involving the collaboration with public transportation vehicles (PTVs) and the deployment of charging stations. In particular, the focus of this paper is on the deployment of charging stations. In this approach, a UAV first travels with some PTVs, and then flies through some charging stations to reach remote sites. While the travel time with PTVs can be estimated by the Monte Carlo method to accommodate various uncertainties, we propose a new coverage model to compute the travel time taken for UAVs to reach the sites. With this model, we formulate the optimal deployment problem with the goal of minimising the average travel time of UAVs from the depot to the sites, which can be regarded as a reflection of the quality of surveillance (QoS) (the shorter the better). We then propose an iterative algorithm to place the charging stations. We show that this algorithm ensures that any movement of a charging station leads to a decrease in the average travel time of UAVs. To demonstrate the effectiveness of the proposed method, we make a comparison with a baseline method. The results show that the proposed model can more accurately estimate the travel time than the most commonly used model, and the proposed algorithm can relocate the charging stations to achieve a lower flight distance than the baseline method.

9.
Arch Virol ; 166(9): 2443-2450, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34173062

RESUMO

Cats infected with feline calicivirus (FCV) often display oral ulcers and inflammation of the upper respiratory tract, which can lead to death in severe cases. Antiviral therapy is one of the most effective ways to control FCV infection. Natural compounds in Chinese herbal medicines and medicinal plants provide abundant resources for research on antiviral drugs. In this study, we found that icariin (ICA), formononetin (FMN) and caffeic acid phenethyl ester (CPAE) show low cytotoxicity towards F81 cells, that the three natural compounds have apparent antiviral effects on FCV in vitro, and that they can inhibit different FCV strains. Then, we found that ICA and FMN mainly function in the early stage of FCV infection, while CAPE can function in both the early and late stages of FCV infection. Finally, we found that ICA has an antagonistic effect on FMN and CAPE in FCV infection, and FMN has a synergistic effect with CAPE against FCV infection. Our results showed that ICA, FMN and CAPE may be potential drug candidates for FCV-induced diseases.


Assuntos
Antivirais/farmacologia , Ácidos Cafeicos/farmacologia , Calicivirus Felino/efeitos dos fármacos , Flavonoides/farmacologia , Isoflavonas/farmacologia , Álcool Feniletílico/análogos & derivados , Álcool Feniletílico/farmacologia , Replicação Viral/efeitos dos fármacos , Animais , Infecções por Caliciviridae/tratamento farmacológico , Doenças do Gato/tratamento farmacológico , Gatos , Linhagem Celular , Sobrevivência Celular/efeitos dos fármacos , Interações Medicamentosas
10.
Harmful Algae ; 106: 102066, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34154783

RESUMO

Although the occurrences of harmful algal blooms (HABs) have been intensifying, many HABs in coastal waters may have been neglected despite their damaging impact directly on ecology and indirectly on human and animal health. The current detection of HABs depends primarily on the water coloration, chlorophyll intensity, cell density, and mortality due to HAB toxicity. Such methods may not be adequately sensitive to detecting HABs that are relatively transient or small scale. The Bohai Sea is the largest inlet of the Yellow Sea located on the northeast coast of China and famous for shipping and marine aquacultures. HABs frequently occur in the Bohai Sea. In this study, we explored the composition, diversity, and distribution of HAB species using the metabarcoding approach. Through sequencing and the analyzing the 18S rDNA V4 region of 15 samples collected from spatially isolated sites in the Bohai Sea during an expedition in the summer of 2019, we identified 74 potential HAB species including 34 that had not been reported in the Bohai Sea in previous studies. This project provided a detailed analysis of phytoplankton composition, and molecular detection of HAB species in the Bohai Sea. In particular, these analyses revealed extremely high relative abundances of the ichthyotoxic phytoplankton species Vicicitus globosus (Dictyochophyceae) at multiple adjacent sampling sites in the Bohai Bay, which were close to the Yellow River Estuary during the expedition. The results revealed the occurrence of a potential HAB event that would be otherwise undetected using conventional methods, highlighting the sensitivity and power of metabarcoding analysis in detecting HABs and HAB species. This research suggested the value for routine and long-term monitoring of HAB species as an approach for monitoring HABs.


Assuntos
Proliferação Nociva de Algas , Fitoplâncton , Animais , Aquicultura , Baías , Fitoplâncton/genética , Estações do Ano
11.
J Cell Mol Med ; 25(12): 5721-5728, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33973351

RESUMO

Single nucleotide polymorphism (SNP) array and karyotype analyses were conducted on 441 spontaneous miscarriage placental villous tissues collected from women from southern China. Subsequently, the results from these two analyses were compared to evaluate the best diagnostic strategy for subsequent pre-pregnancy planning. Here, the success rate of genetic testing using karyotyping and SNP array analysis was 78.46% (346/441) and 100.0% (441/441), respectively. The abnormality rate estimated by both methods was 54.9% (242/441). Three hundred and forty-six cases were successfully detected via both SNP array and karyotype analyses; the rate of consistent detection was 96.24% (333/346), whereas 13 cases were not consistent. There was no substantial positive correlation between age and genetic abnormalities such as Turner syndrome, structural variation or euploidy state in the different age groups studied. However, the aneuploidy rate was significantly different in each age group. Thus, although SNP array has higher success rate and resolution in genetic abnormality detection, supplementary karyotype analysis is needed for a more accurate revelation of the genetic aetiology of miscarriages. Therefore, this study indicates that simultaneous karyotype and SNP array analyses should be performed for spontaneous miscarriages. Furthermore, miscarriages irrespective of maternal age must be genetically analysed.


Assuntos
Aborto Espontâneo/diagnóstico , Aneuploidia , Aberrações Cromossômicas , Testes Genéticos/métodos , Placenta/patologia , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/genética , Adulto , China/epidemiologia , Feminino , Humanos , Cariotipagem , Idade Materna , Placenta/metabolismo , Gravidez
12.
J Colloid Interface Sci ; 599: 556-565, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33964700

RESUMO

Zinc-based energy storage systems (zinc-air, zinc-nickel and zinc-ion batteries and zinc-ion hybrid supercapacitors (ZHSs) are considered as promising power sources for wide applications from personal electronic devices to electric vehicles. However, these systems, especially the Zn-based hybrid supercapacitors, display unsatisfying power density and energy density, which should be enhanced for their large-scale applications. In this work, aqueous alkaline zinc-carbon hybrid supercapacitors (A-ZCHS) were designed, consisting of B, N dual doped carbon cathode, Zn anode and KOH electrolyte. The B, N dual doped carbon was prepared via thermal treatment of metal-organic frameworks and boric acid, which exhibits abundant hierarchical pore structure (micropore, mesopore and macropore) and suitable defect construction, promoting ion diffusion/charge transfer and providing more rapid surface pseudocapacitance reaction. More obviously, when the optimized B, N dual doped carbon was used as cathode in A-ZCHS and ZHS, more capacitive charge storage and rapider electrochemical kinetics can be observed in A-ZCHS than in ZHS. Therefore, the optimized A-ZCHS displays a high energy density of 115.7 Wh kg-1 at the power density of 711.6 W kg-1 with excellent stability, which is much better than most of ZHSs reported previously. The A-ZCHS should be a promising candidate for energy storage applications.

13.
J Cell Mol Med ; 2021 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-34042265

RESUMO

Recently, chromosomal microarray analysis (CMA) has been implemented as a first-tier test in pregnancies with ultrasound anomalies. However, its application for pregnancies with abnormal maternal serum screening (AMSS) only is not widespread. This study evaluated the value of CMA compared to traditional karyotyping in pregnancies with increased risk following first- or second-trimester maternal serum screening. Data from 3973 pregnancies with referral for invasive prenatal testing following AMSS were obtained from April 2016 to May 2020. Routine karyotyping was performed and single nucleotide polymorphism array was recommended. The foetuses were categorized according to the indications as AMSS only (group A) and AMSS with ultrasound anomalies (group B). CMA was performed on 713 prenatal samples. The proportion of women opting for CMA testing in both groups increased over the years. The incremental yield of clinically significant findings for pregnancies with high risk of screening results was similar to that for the foetuses with ultrasound soft markers (P > 0.05), but significantly lower than that for the foetuses with structural anomalies (P < 0.05). The total frequencies of variants of unknown significance in groups A and B showed no significant difference (P > 0.05). CMA should be performed for pregnant women undergoing prenatal invasive testing due to AMSS, especially with high-risk results, regardless of ultrasound findings.

14.
Medicine (Baltimore) ; 100(20): e25999, 2021 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-34011095

RESUMO

ABSTRACT: Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and value of CMA and karyotyping on diagnosis of chromosomal abnormalities in Fujian province of South China.In the study, 410 clinical samples were collected from pregnant women between March 2015 and December 2016, including 3 villus (0.73%, 3/410), 296 amniotic fluid (72.20%, 296/410), and 111 umbilical cord blood (27.07%, 111/410). All samples were screening for chromosomal abnormalities by both using CMA and karyotyping.The success rate of CMA and karyotyping was 100% (410/410) and 99.27% (407/410), respectively. Sixty-one (14.88%, 61/410) samples were presented with chromosomal abnormalities by using CMA, whereas 47 (11.55%, 47/407) samples were shown with chromosomal abnormalities by using karyotyping. Thirty-one (8.61%, 31/360) samples with normal karyotypes were found to exist chromosomal abnormalities by using CMA. Receiver operating characteristic analysis showed that the area under the curve of karyotyping on the diagnosis of chromosomal abnormalities was 0.90 (95% confidence interval: 0.87-0.93), the sensitivity and specificity was 87.56% and 91.22%, respectively. The area under the curve of CMA on the diagnosis of chromosomal abnormalities was 0.93 (95% confidence interval: 0.90-0.95), with 90.68% sensitivity and 94.40% specificity. Notably, the combination of CMA and karyotyping could improve the diagnosis of chromosomal abnormalities.CMA has a better diagnostic value for screening chromosomal abnormalities, especially for those pregnant women with normal karyotypes. This study has guiding value for prenatal diagnosis in Fujian province of South China.


Assuntos
Transtornos Cromossômicos/diagnóstico , Testes Genéticos/métodos , Cariotipagem/estatística & dados numéricos , Análise em Microsséries/estatística & dados numéricos , Diagnóstico Pré-Natal/métodos , Adulto , China , Transtornos Cromossômicos/genética , Cromossomos Humanos/genética , Feminino , Testes Genéticos/estatística & dados numéricos , Idade Gestacional , Humanos , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Prospectivos , Curva ROC , Estudos Retrospectivos , Adulto Jovem
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(4): 325-328, 2021 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-33834457

RESUMO

OBJECTIVE: To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies. METHODS: A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained. RESULTS: Among the 165 cases suspected for fetal sex chromosome anomalies, 129 have accepted invasive prenatal diagnosis, and 45 were confirmed, which yielded a positive predictive value of 34.88%. These included 16 cases of 47,XYY, 10 cases of 47,XXY, 6 cases of 45,X/46,XX, 5 cases of 47,XXX, 3 cases of 45,X, 1 case of 45,X/46,X,i(X)(q10), 1 case of 45,X/46,X,del(X)(q22), 1 case of 46,X,del(X)(q22), 1 case of 46,X,del(X)(p11) and 1 case of Xp22.31 1.2 Mb deletion. CONCLUSION: NIPS has limited value for detecting fetal sex chromosome anomalies. Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.


Assuntos
Aneuploidia , Trissomia , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Cromossomos Sexuais/genética
16.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(4): 335-338, 2021 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-33834459

RESUMO

OBJECTIVE: To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes. METHODS: Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics. RESULTS: Five of the eight cases with false-positive NIPT results were proven to be CPM involving trisomy 9, 13, 21, 22, and X, respectively. The mosaic ratios for different placental regions have varied from 4% to 80%. Two fetuses with confirmed CPM showed fetal growth restriction (FGR) and additional ultrasound abnormalities, 1 fetus showed only FGR. The remaining two fetuses showed normal growth. CONCLUSION: NIPT is highly sensitive to CPM, whilst CPM is an important cause for false-positive NIPT result. CPM may be associated with FGR. Investigation of the presence of CPM is important for both pre- and post-test genetic counseling and management of the pregnancy.


Assuntos
Mosaicismo , Resultado da Gravidez , Variações do Número de Cópias de DNA , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Trissomia
17.
Artigo em Inglês | MEDLINE | ID: mdl-33715162

RESUMO

OBJECTIVE: To explore the ability of albumin concentration to predict calf venous thromboembolism (cVTE) in gynecologic diseases. METHODS: We analyzed data from 761 patients from the gynecology department. We screened the serum albumin concentration as an important indicator for predicting cVTE through logistic analysis. The data were divided into albumin below 35 and 35 g/L or more. Receiver operating characteristics analysis was used to compare the predictive ability of albumin, D-dimer, and a combination of these parameters as indicators for cVTE risk in different groups and subgroups. RESULTS: In gynecologic diseases, the albumin concentrations were lower in the surgery and malignancy group than in the chemotherapy and benign disease group. Albumin concentration had a predictive ability for cVTE risk. In ovarian cancer patients with albumin concentrations less than 35 g/L, albumin was better than D-dimer at predicting cVTE (area under the curve [AUC] 0.79, 95% confidence interval [CI] 0.70-0.87, P < 0.001 versus AUC 0.65, 95% CI 0.54-0.77, P = 0.016). CONCLUSION: The albumin concentration was a candidate indicator for predicting cVTE in surgical patients in the gynecology department, especially in ovarian cancer patients with albumin concentrations less than 35 g/L. A combination of the albumin and D-dimer parameters may improve the predictive ability for cVTE.

18.
Sci Rep ; 11(1): 5291, 2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33674646

RESUMO

Etiopathogenesis of fetal ventriculomegaly is poorly understood. Associations between fetal isolated ventriculomegaly and copy number variations (CNVs) have been previously described. We investigated the correlations between fetal ventriculomegaly-with or without other ultrasound anomalies-and chromosome abnormalities. 222 fetuses were divided into four groups: (I) 103 (46.4%) cases with isolated ventriculomegaly, (II) 41 (18.5%) cases accompanied by soft markers, (III) 33 (14.9%) cases complicated with central nervous system (CNS) anomalies, and (IV) 45 (20.3%) cases with accompanying anomalies. Karyotyping and single nucleotide polymorphism (SNP) array were used in parallel. Karyotype abnormalities were identified in 15/222 (6.8%) cases. Karyotype abnormalities in group I, II, III, and IV were 4/103 (3.9%), 2/41 (4.9%), 4/33 (12.1%), and 5/45 (11.1%), respectively. Concerning the SNP array analysis results, 31/222 (14.0%) were CNVs, CNVs in groups I, II, III, and IV were 11/103 (10.7%), 6/41 (14.6%), 9/33 (27.3%), and 5/45 fetuses (11.1%), respectively. Detections of clinical significant CNVs were higher in non-isolated ventriculomegaly than in isolated ventriculomegaly (16.81% vs 10.7%, P = 0.19). SNP arrays can effectively identify CNVs in fetuses with ventriculomegaly and increase the abnormal chromosomal detection rate by approximately 7.2%, especially ventriculomegaly accompanied by CNS anomalies.

19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 228-231, 2021 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-33751530

RESUMO

OBJECTIVE: To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD). METHODS: Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology. RESULTS: Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity. CONCLUSION: SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.


Assuntos
Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento , Deficiência Intelectual , Criança , Aberrações Cromossômicas , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Cariotipagem
20.
Curr Med Sci ; 41(1): 77-83, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33582909

RESUMO

The Coronavirus disease 2019 (COVID-19) outbreak has been brought under control through a nationwide effort, and now it has become a global pandemic and the situation seems grim. We summarized the measures taken in Wuhan and analyzed the effects to comprehensively describe the factors involved in controlling the COVID-19 in China. In China, several measures such as the lockdown of Wuhan, restriction of traffic and communities, increasing hospital beds, nationwide support from medical staff, epidemic prevention equipment and supplies, and establishment of makeshift shelter hospitals have been taken. The lockdown of Wuhan reduced the propagation of cases to other cities in Hubei province and throughout China, traffic and community restrictions reduced the flow of population and the spread of disease, increasing wards and beds and medical personnel reduced the incidence of severe cases and mortality, the establishment of the Fangcang shelter hospitals provided a good isolation and monitoring environment, and further reduced the spread and fatality of the disease. The fact that China was able to control the spread of COVID-19 within three months without a specific drug or vaccine suggests that these measures are more adequate and effective.


Assuntos
COVID-19/prevenção & controle , Controle de Doenças Transmissíveis/métodos , Pandemias/prevenção & controle , COVID-19/transmissão , China , Controle de Doenças Transmissíveis/instrumentação , Feminino , Humanos , Masculino
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