Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 528
Filtrar
1.
Nat Cell Biol ; 23(4): 424-436, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33820973

RESUMO

Although high-throughput RNA sequencing (RNA-seq) has greatly advanced small non-coding RNA (sncRNA) discovery, the currently widely used complementary DNA library construction protocol generates biased sequencing results. This is partially due to RNA modifications that interfere with adapter ligation and reverse transcription processes, which prevent the detection of sncRNAs bearing these modifications. Here, we present PANDORA-seq (panoramic RNA display by overcoming RNA modification aborted sequencing), employing a combinatorial enzymatic treatment to remove key RNA modifications that block adapter ligation and reverse transcription. PANDORA-seq identified abundant modified sncRNAs-mostly transfer RNA-derived small RNAs (tsRNAs) and ribosomal RNA-derived small RNAs (rsRNAs)-that were previously undetected, exhibiting tissue-specific expression across mouse brain, liver, spleen and sperm, as well as cell-specific expression across embryonic stem cells (ESCs) and HeLa cells. Using PANDORA-seq, we revealed unprecedented landscapes of microRNA, tsRNA and rsRNA dynamics during the generation of induced pluripotent stem cells. Importantly, tsRNAs and rsRNAs that are downregulated during somatic cell reprogramming impact cellular translation in ESCs, suggesting a role in lineage differentiation.

2.
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.

3.
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.

4.
Reproduction ; 2021 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-33812346

RESUMO

The syncytiotrophoblast, derived from cytotrophoblast fusion, is responsible for maternal-fetal exchanges, secretion of pregnancy-related hormones, and fetal defense against pathogens. Inadequate cytotrophoblast fusion can lead to pregnancy disorders, such as preeclampsia and fetal growth restriction. However, little is known about the mechanism of cytotrophoblast fusion in both physiological and pathological pregnancy conditions. In this study, P57kip2 (P57), a cell cycle-dependent kinase inhibitor that negatively regulates the cell cycle, was found to be up-regulated during the process of syncytialization in both primary trophoblast cells and BeWo cells. Co-immunofluorescence with proliferation markers Ki-67 and Cyclin-CDK factors further showed that P57 specifically localizes in the post-mitotic cytotrophoblast subtype of the early pregnancy villi. Overexpression of P57 promoted trophoblast syncytialization by arresting the cell cycle at the G1/G0 phase and inhibiting proliferation. Blocking of the cell cycle through a serum starvation culture resulted in an enhancement of cytotrophoblast fusion and the up-regulation of P57 expression. In both spontaneous cytotrophoblast fusion and forskolin-induced BeWo cell fusion models, an initial up-regulation of P57 was observed followed by a subsequent downregulation. These findings indicate that proper expression of P57 at cytotrophoblast differentiation nodes plays an important role in trophoblast syncytialization.

5.
Artigo em Inglês | MEDLINE | ID: mdl-33792845

RESUMO

Butylated hydroxytoluene (BHT), one of the most widely used synthetic phenolic antioxidants, is a popular food additive. Previous studies have reported the possible health hazards of BHT. However, BHT effects on female reproduction, especially on endometrial decidualization, are still unknown. During early pregnancy, decidualization plays important roles for embryo implantation and pregnancy establishment. This study aimed to explore the effects of BHT on endometrial decidualization in pregnant mice. The pregnant mice received BHT via intraperitoneal injection at doses of 0, 200, and 400 mg/kg/day from day 1 (D1) of pregnancy until sacrifice. Under BHT exposure, maternal body weight was significantly decreased during early pregnancy. Compared with the control group, the number of implantation sites and uterine weight were significantly reduced in the BHT groups. The uterine lumen failed to close after BHT exposure, and the decidual morphology of endometrial stromal cells was inhibited by BHT. Furthermore, BHT significantly decreased the expression of endometrial decidual markers including COX2, HOXA10, and MMP9. Notably, the levels of serum estrogen (E2) and progesterone (P4) and expression levels of uterus estrogen receptor α (ERα) and progesterone receptor (PR) during early pregnancy were significantly upregulated following BHT exposure. In conclusion, these results demonstrated that gestational BHT exposure could inhibit decidualization of mouse endometrium during early pregnancy. The disorders of reproductive hormones and changes of hormone receptor signals could be responsible for the impaired decidualization. This study provided new evidence for the deleterious effects of BHT on female reproduction and revealed the potential reproductive toxicity of synthetic phenolic antioxidants.

6.
Environ Pollut ; 279: 116917, 2021 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-33744629

RESUMO

HT-2 toxin (HT-2), a mycotoxin produced by Fusarium species, is detected in a variety of cereal grain-based human food and animal feed. Apart from its well-established immunotoxicity and haematotoxicity, it also causes reproductive disorders. In the present study, we revealed the adverse effects of HT-2 on early oogenesis at the foetal stage. Pregnant mice were orally administered with HT-2 for 3 days at mid-gestation. Oocytes from female foetuses exposed to HT-2 displayed defects in meiotic prophase, including unrepaired DNA damage, elevated recombination levels, and reduced expression of meiotic-related genes. Subsequently, increased oxidative stress was observed in the foetal ovaries exposed to HT-2, along with the elevated levels of reactive oxygen species, malondialdehyde, catalase, and superoxide dismutase 1/2, thereby resulting in impaired mitochondrial membrane potential and cell apoptosis. Furthermore, pre-treatment with urolithin A, a natural compound with antioxidant activities, partially reversed the delayed meiotic process by alleviating oxidative stress. Since early oogenesis is essential to determine female fertility in adult life, this study indicated that brief maternal exposure to HT-2 toxin may compromise the fertility of a developing female foetus.

7.
Front Immunol ; 12: 654406, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33777053

RESUMO

Background: Germline mutations in signal transducer and activator of transcription 1 (STAT1), which lead to primary immunodeficiency, are classified as defects in intrinsic and innate immunity. To date, no comprehensive overview comparing GOF with LOF in early-onset immunodeficiency has been compiled. Objective: To collect and systematically review all studies reporting STAT1 GOF and LOF cases, and to describe the clinical, diagnostic, molecular, and therapeutic characteristics of all the conditions. Methods: A systematic review of the PubMed, EMBASE, Web of Science, Scopus, and Cochrane to identify articles published before May 23, 2020. Data pertaining to patients with a genetic diagnosis of STAT1 GOF or LOF germline mutations, along with detailed clinical data, were reviewed. Results: The search identified 108 publications describing 442 unique patients with STAT1 GOF mutations. The patients documented with chronic mucocutaneous candidiasis (CMC; 410/442), lower respiratory tract infections (210/442), and autoimmune thyroid disease (102/442). Th17 cytopenia was identified in 87.8% of those with GOF mutations. Twenty-five patients with GOF mutations received hematopoietic stem cell transplantation (HSCT), and 10 died several months later. Twelve of 20 patients who received JAK inhibitor therapy showed improved symptoms. Twenty-one publications described 39 unique patients with STAT1 LOF mutations. The most common manifestations were Mendelian susceptibility to mycobacterial diseases (MSMD) (29/39), followed by osteomyelitis (16/39), and lymphadenopathy (9/39). Missense, indel, and frameshift mutations were identified as LOF mutations. There were no obvious defects in lymphocyte subsets or immunoglobulin levels. Eighteen patients required antimycobacterial treatment. Three patients received HSCT, and one of the three died from fulminant EBV infection. Conclusions: STAT1 GOF syndrome is a clinical entity to consider when confronted with a patient with early-onset CMC, bacterial respiratory tract infections, or autoimmune thyroid disease as well as Th17 cytopenia and humoral immunodeficiency. HSCT is still not a reasonable therapeutic choice. Immunoglobulin replacement therapy and JAK inhibitors are an attractive alternative. STAT1 LOF deficiency is a more complicated underlying cause of early-onset MSMD, osteomyelitis, respiratory tract infections, and Herpesviridae infection. Anti-mycobacterial treatment is the main therapeutic choice. More trials are needed to assess the utility of HSCT.

8.
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.

9.
Yi Chuan ; 43(3): 240-248, 2021 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-33724208

RESUMO

As the most abundant biological entities on earth, bacteriophages (phages) were considered as the antagonists of bacteria. With the rapid development of genomics and molecular biology technologies, a subtle and complex relationship between phages and their host bacteria has been uncovered. Prophage refers to an intracellular form of a bacteriophage, which is usually integrated into the hereditary material of the host. Prophage is ubiquitously distributed in bacterial genomes. It reproduces when the host does and can affect important biological properties of their bacterial hosts, such as virulence, biofilm formation and host immunity. Interestingly, prophages were also involved in regulating the lysogeny-lytic state by "monitoring" the quorum sensing of bacteria. Recently, anti-CRISPR proteins encoded by prophages were found, which attracts a lot of attention. In this review, we summarized the prediction, distribution, classification and functions of prophages to lay a foundation for further studying interactions between phages and bacteria.


Assuntos
Bacteriófagos , Prófagos , Bactérias/genética , Bacteriófagos/genética , Genoma Bacteriano , Lisogenia/genética , Prófagos/genética
10.
Biochem Biophys Res Commun ; 554: 33-40, 2021 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-33774277

RESUMO

Glucocorticoid-induced osteoporosis (GIOP) has emerged as a challenge after long-term glucocorticoid administration during the clinical therapy of diverse diseases. Although some candidates for GIOP treatment have been explored, there is still a lack of reliable drugs for GIOP prevention. In this study, rat bone marrow stem cells (rBMSCs) were utilized to investigate the feasibility of applying strontium gluconate (GluSr), which displays mild activity, easy absorption and good biocompatibility, for GIOP prevention. Thirty-two SD rats were divided into 4 groups to explore the effects of GluSr on osteoporosis rescue in vivo. Our results suggested that GluSr markedly alleviated dexamethasone (DEX)-induced apoptosis of osteoblast precursor cells and rBMSCs and enhanced rBMSC osteogenesis differentiation in vitro. GluSr also effectively promoted osteoblast survival, inhibited osteoclast differentiation and restored bone formation in GIOP rat models. Microarray analysis of the femora from GIOP rats treated with GluSr revealed that the signalling pathways of the glucocorticoid receptor (GR), oestrogen receptor gene (ESR) and vitamin D receptor (VDR) were involved in bone restoration by GluSr. In summary, our study proved that GluSr enhanced osteoblast differentiation and suppressed osteoclast activity both in vitro and in vivo. GluSr might function as a novel strontium reagent for GIOP prevention.

11.
Proc Natl Acad Sci U S A ; 118(14)2021 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-33782135

RESUMO

Recent findings regarding nicotinamide adenine dinucleotide (NAD+)-capped RNAs (NAD-RNAs) indicate that prokaryotes and eukaryotes employ noncanonical RNA capping to regulate gene expression. Two methods for transcriptome-wide analysis of NAD-RNAs, NAD captureSeq and NAD tagSeq, are based on copper-catalyzed azide-alkyne cycloaddition (CuAAC) click chemistry to label NAD-RNAs. However, copper ions can fragment/degrade RNA, interfering with the analyses. Here we report development of NAD tagSeq II, which uses copper-free, strain-promoted azide-alkyne cycloaddition (SPAAC) for labeling NAD-RNAs, followed by identification of tagged RNA by single-molecule direct RNA sequencing. We used this method to compare NAD-RNA and total transcript profiles of Escherichia coli cells in the exponential and stationary phases. We identified hundreds of NAD-RNA species in E. coli and revealed genome-wide alterations of NAD-RNA profiles in the different growth phases. Although no or few NAD-RNAs were detected from some of the most highly expressed genes, the transcripts of some genes were found to be primarily NAD-RNAs. Our study suggests that NAD-RNAs play roles in linking nutrient cues with gene regulation in E. coli.

12.
Proc Natl Acad Sci U S A ; 118(13)2021 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-33753511

RESUMO

Nicotinamide adenine diphosphate (NAD+) is a novel messenger RNA 5' cap in Escherichia coli, yeast, mammals, and Arabidopsis Transcriptome-wide identification of NAD+-capped RNAs (NAD-RNAs) was accomplished through NAD captureSeq, which combines chemoenzymatic RNA enrichment with high-throughput sequencing. NAD-RNAs are enzymatically converted to alkyne-RNAs that are then biotinylated using a copper-catalyzed azide-alkyne cycloaddition (CuAAC) reaction. Originally applied to E. coli RNA, which lacks the m7G cap, NAD captureSeq was then applied to eukaryotes without extensive verification of its specificity for NAD-RNAs vs. m7G-capped RNAs (m7G-RNAs). In addition, the Cu2+ ion in the CuAAC reaction causes RNA fragmentation, leading to greatly reduced yield and loss of full-length sequence information. We developed an NAD-RNA capture scheme utilizing the copper-free, strain-promoted azide-alkyne cycloaddition reaction (SPAAC). We examined the specificity of CuAAC and SPAAC reactions toward NAD-RNAs and m7G-RNAs and found that both prefer the former, but also act on the latter. We demonstrated that SPAAC-NAD sequencing (SPAAC-NAD-seq), when combined with immunodepletion of m7G-RNAs, enables NAD-RNA identification with accuracy and sensitivity, leading to the discovery of new NAD-RNA profiles in Arabidopsis Furthermore, SPAAC-NAD-seq retained full-length sequence information. Therefore, SPAAC-NAD-seq would enable specific and efficient discovery of NAD-RNAs in prokaryotes and, when combined with m7G-RNA depletion, in eukaryotes.

13.
Ann Palliat Med ; 2021 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-33549024

RESUMO

BACKGROUND: Parkinson's disease is the second major neurodegenerative diseases secondarily to Alzheimer's disease. Rapamycin is a fermentation product, which derived from Streptomyces hygroscopius. The aim of this study is to investigate the effect of rapamycin and its potential mechanisms on the acute attack of 1-methyl-4-phenyl-1,2,3,6-four hydrogen pyridine (MPTP) induced Parkinson's disease (PD) in mice. METHODS: PD model was established by intraperitoneal injection of MPTP for 5 days. The effect of intraperitoneal injection of rapamycin for treating the symptoms caused by PD was evaluated by behavior observation and HE pathological section. In order to understand the possible mechanism, immunofluorescence and immune precipitation mainly analyzes were used to measure the expression of critical protein p-4ebp1 in mammalian target of rapamycin (mTOR) signaling pathways in the striatum and substantia nigra. RESULTS: Rapamycin can effectively alleviate symptoms of PD. The levels of key protein p-4EBP1 in the striatum and substantia nigra were both significantly higher in PD group compared with control group (P<0.01), while being pretreated with rapamycin, the expression of p-4EBP1 in the striatum and substantia nigra were both decreased obviously (P<0.01). CONCLUSIONS: p-4EBP1 protein may be involved in the pathogenesis of PD via mTOR signaling pathway. Inhibited mTOR-4EBP1 pathways could make a certain protective effect for the acute attack of PD induced by MPTP.

14.
Plant Cell ; 2021 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-33570655

RESUMO

The coordinated development of sporophytic and gametophytic tissues is essential for proper ovule patterning and fertility. However, the mechanisms regulating their integrated development remain poorly understood. Here, we report that the Swi2/Snf2-Related1 (SWR1) chromatin remodeling complex acts with the ERECTA receptor kinase signaling pathway to control female gametophyte and integument growth in Arabidopsis thaliana by inhibiting transcription of the microRNA gene MIR398c in early-stage megagametogenesis. Moreover, pri-miR398c is transcribed in the female gametophyte but is then translocated to and processed in the ovule sporophytic tissues. Together, SWR1 and ERECTA also activate ARGONAUTE10 (AGO10) expression in the chalaza; AGO10 sequesters miR398, thereby ensuring the expression of three AGAMOUS-LIKE (AGL) genes (AGL51, AGL52, and AGL78) in the female gametophyte. In the context of sexual organ morphogenesis, these findings suggest that the spatiotemporal control of miRNA biogenesis, resulting from coordination between chromatin remodeling and cell signaling, is essential for proper ovule development in Arabidopsis.

15.
PLoS Biol ; 19(2): e3001099, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33556049

RESUMO

In plants, conserved microRNAs (miRNAs) tend to be encoded by gene families with multiple members. Two recent studies interrogated the functions of the 5-member MIR172 family in Arabidopsis and revealed complexities and intricacies of gene regulatory networks underlying floral transition.

16.
FEBS Open Bio ; 11(4): 1237-1249, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33626243

RESUMO

Chronic obstructive pulmonary disease (COPD) is characterized by persistent airway inflammation and fixed airflow obstruction. Patients with COPD have increased risk of lung cancer (LC), and the coexistence of both diseases is associated with poorer survival. However, the mechanisms predisposing patients with COPD to LC development and poor prognosis remain unclear. Gene expression profiles were downloaded from the Gene Expression Omnibus. Twenty-two data sets were included (n = 876). We identified 133 DEGs and 145 DEGs in patients with COPD and LC compared with healthy controls, respectively. There were 1544 DEGs in patients with LC and coexisting COPD compared with COPD, and these DEGs are mainly involved in the cell cycle, DNA replication, p53 signalling and insulin signalling. The biological processes primarily associated with these DEGs are oxidation reduction and apoptosis. SPP1 was the only overlapping DEG that was up-regulated in patients with COPD and/or LC, and this was validated by qPCR in an independent cohort. The area under the curve value for SPP1 was 0.893 (0.822-0.963) for the prediction of LC in patients with COPD. High expression of SPP1 in patients with LC was associated with shorter survival time. Up-regulation of SPP1 may be associated with increased risk of LC in patients with COPD and therefore may have potential as a therapeutic target for LC in patients with COPD.

17.
Aging (Albany NY) ; 13(1): 1488-1497, 2021 01 11.
Artigo em Inglês | MEDLINE | ID: mdl-33429367

RESUMO

A family with a history of Pelizaeus-Merzbacher disease (PMD) received prenatal diagnosis of PLP1 gene duplication in a fetus using a single nucleotide polymorphism (SNP) array. A 27-year-old pregnant woman was referred for genetic counseling due to her four-year-old son being diagnosed with a suspected classic type of PMD. Amniocentesis was performed at 18 and 3/7 weeks of gestation, and the SNP array was carried out on DNA from the mother, her affected son, and fetus, then further confirmed by multiplex ligation-dependent probe amplification (MLPA). Cytogenetic analysis of the fetus showed 46,XY. SNP array analysis revealed that the male fetus did not carry PLP1 gene duplication but the affected boy did, and the mother was a carrier for the duplication of the PLP1 gene. All SNP array results were further confirmed by MLPA. SNP array and MLPA analyses of peripheral blood verified the nonduplication of the PLP1 gene in the infant after birth. At present, the child (without PLP1 duplication) is developing normally. This study preliminarily suggests that SNP array is a sensitive and accurate technology for identifying PLP1 duplication and is feasible for reliable diagnosis, including for the prenatal diagnosis of PMD resulting from PLP1 duplication.

18.
Artigo em Inglês | IBECS-Express | IBECS | ID: ibc-ET5-2521

RESUMO

INTRODUCTION: Viral hepatitis infection is associated with negative impacts on renal function that may lead to nephropathy. We investigated associations between chronic hepatitis B virus (HBV) infection and chronic kidney disease (CKD) and/or end-stage renal disease (ESRD) in a large, representative sample from a nationwide U.S. database. METHODS: This population-based, retrospective observational study extracted data from the U.S. Nationwide Inpatient Sample (NIS) database, including adults ≥18 years old admitted to U.S. hospitals between 2005 and 2014 with records of chronic HBV infection in medical history. The final analytic sample included 70,674 HBV-infected patients and 282,696 matched non-HBV controls. Study endpoints were prevalent CKD and ESRD. Associations between CKD/ESRD and HBV and patients' clinical characteristics were determined by logistic regression analysis. RESULTS: HBV infection was associated with slightly increased risk of prevalent CKD (OR: 1.06, 95% CI: 1.004-1.119) and an approximate 2-times risk of prevalent ESRD (OR: 1.98, 95% CI: 1.880-2.086). HBV infection in both genders was associated with slightly increased risk of CKD (males, OR: 1.09, 95% CI: 1.02-1.16; females, OR: 1.07, 95% CI: 0.98,1.17), and significantly associated with increased risk for CKD among non-diabetic patients (OR: 1.23, 95% CI: 1.15-1.32), white patients (OR: 1.14, 95% CI: 1.06-1.23) and Asian/Pacific Islanders (OR: 1.13, 95% CI: 0.98-1.30). CONCLUSIONS: Chronic HBV infection is associated with slightly increased risk for CKD and greater risk for ESRD in males and females, Whites and Asian/Pacific Islanders and non-diabetic patients


INTRODUCCIÓN: La infección por el virus de la hepatitis se asocia a impactos negativos en la función renal que pueden derivar en nefropatía. Investigamos las asociaciones entre la infección crónica por el virus de la hepatitis B (VHB) y la enfermedad renal crónica (ERC) y/o la enfermedad renal terminal (ERT) en una muestra de grandes dimensiones y representativa procedente de una base de datos nacional de los Estados Unidos. MÉTODOS: Este estudio observacional retrospectivo y poblacional extrajo datos de la base de datos de la muestra nacional de pacientes hospitalizados (Nationwide Inpatient Sample, NIS) de los EE. UU., que incluye adultos ≥18 años ingresados en hospitales de los EE. UU. entre 2005 y 2014 con registros de infección crónica por VHB en su historia médica. La muestra analítica final incluyó a 70.674 pacientes infectados por el VHB y a 282.696 controles emparejados no infectados por el VHB. Los criterios de valoración del estudio fueron la enfermedad renal crónica y la enfermedad renal terminal prevalentes. Las asociaciones entre la ERC o la ERT y el VHB y las características clínicas de los pacientes se determinaron mediante un análisis de regresión logística. RESULTADOS: La infección por VHB se asoció a un riesgo ligeramente mayor de prevalencia de enfermedad renal crónica (OR: 1,06; IC del 95%: 1,004-1,119) y un riesgo aproximadamente dos veces mayor de enfermedad renal terminal (OR: 1,98; IC del 95%: 1,880-2,086). La infección por VHB se asoció en ambos sexo a un riesgo ligeramente mayor de enfermedad renal crónica (hombres, OR: 1,09, IC del 95%: 1,02-1,16; mujeres, OR: 1,07, IC del 95%: 0,98-1,17), y se asoció significativamente a un mayor riesgo de enfermedad renal crónica entre los pacientes no diabéticos (OR: 1,23, IC del 95%: 1,15-1,32), pacientes blancos (OR: 1,14, IC del 95%: 1,06-1,23) y asiáticos o de las islas del Pacífico (OR: 1,13, IC del 95%: 0,98-1,30). CONCLUSIONES: La infección crónica por VHB se asocia a un riesgo ligeramente mayor de enfermedad renal crónica y a un mayor riesgo de enfermedad renal terminal en hombres y mujeres, blancos y asiáticos o de las islas del Pacífico y pacientes no diabéticos

19.
BMC Med Genomics ; 14(1): 19, 2021 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-33435955

RESUMO

BACKGROUND: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. METHODS: Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. RESULTS: Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. CONCLUSIONS: Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.

20.
BMC Neurol ; 21(1): 21, 2021 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-33441129

RESUMO

BACKGROUND: Increasing evidences have showed that neuroimaging markers of SVD can predict the short-term outcome of acute ischemic stroke (AIS). It is unclear that whether neuroimaging markers of SVD are also associated with short-term outcomes of minor cerebrovascular events. In the present study, we investigate neuroimaging markers of SVD in order to explore their roles in prediction of short-term outcome in patients with minor cerebrovascular events. METHODS: Consecutive first-ever stroke patients (n = 546) from the Affiliated Jiangning Hospital of Nanjing Medical University were enrolled. A total of 388 patients were enrolled according to minor cerebrovascular events definition (National Institutes of Health Stroke Scale Score ≤ 3) and exclusion criteria. MRI scans were performed within 7 days of stroke onset, and then neuroimaging markers of SVD including WMH, lacunes, cerebral microbleeds (CMB), and perivascular spaces (PVS), SVD burden scores were assessed. We completed baseline characteristics and evaluated the relationships of short-term outcomes to SVD neuroimaging markers and SVD scores. The 90-day modified Rankin Scale (mRS) was thought as primary outcome and was dichotomized as good functional outcome (mRS 0-1) and poor outcome (mRS 2-6). Secondary outcomes were stroke progression and stroke recurrence. RESULTS: Higher age, National Institutes of Health Stroke Scale (NIHSS) upon admission, lipoprotein-associated phospholipase A2 (LP-PLA2) and lacunes, Fazekas score were correlated with poor functional outcome (P < 0.05), But after adjusting for confounding variables, among the neuroimaging markers of cerebral small vessel disease, only Fazekas score (OR, 1.343; 95% confidence interval, 1.020-1.770; P = 0.036) was found to be associated with poor outcome at 90 days. Higher Fazekas and SVD scores were not associated with stroke progression or stroke recurrence. CONCLUSION: WMH can predict the poor functional outcome of minor cerebrovascular events. Adding other neuroimaging markers of SVD and total SVD burden score, however, does not improve the prediction, which indicated WMH can as neuroimaging markers for guiding the treatment of minor cerebrovascular events.


Assuntos
Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem , Neuroimagem/métodos , Recuperação de Função Fisiológica , Idoso , Idoso de 80 Anos ou mais , Doenças de Pequenos Vasos Cerebrais/complicações , Doenças de Pequenos Vasos Cerebrais/patologia , Progressão da Doença , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...