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1.
Sci Total Environ ; 752: 141853, 2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-32889278

RESUMO

This study analyses the role of green growth in promoting a sustainable environment. In literature, the empirical and theoretical examination on the role of green growth in carbon dioxide (CO2) emissions is missing, especially in combination with other factors, i.e., human capital index, environment-related taxes and development of environment-related technologies. This study investigates the role of environmentally adjusted multifactor productivity growth (i.e. green growth) on CO2 emissions for G7 countries from 1991 to 2017. The study utilizes second generation panel data method(s), i.e. Cross-Sectionally Augmented Auto-regressive Distributive lag (CS-ARDL) model. The outcomes of theoretical and empirical findings indicate that both linear and non-linear term for green growth reduces CO2 emissions. Also, environmental tax, human capital and renewable energy use are found to decrease CO2 emissions. The impact of GDP growth both in short-run and long-run is environment depletion. However, our result supports the theoretical notion that green growth sustains environment quality. We obtained consistent results from panel causality test. Our results may further strengthen the belief of policymakers in developed countries on the promotion of green growth.

2.
PLoS One ; 15(11): e0241516, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33152002

RESUMO

BACKGROUND: Team care improves processes and outcomes of care, especially for patients with complex medical conditions that require coordination of care. This study aimed to compare the processes and outcomes of care provided to older patients with diabetes by primary care teams comprised of only primary care physicians (PCPs) versus team care that included nurse practitioners (NPs) or physician assistants (PAs). METHODS: We studied 3,524 primary care practices identified via social network analysis and 306,741 patients ≥66 years old diagnosed with diabetes in or before 2015 in Medicare data. Guideline-recommended diabetes care included eye examination, hemoglobin A1c test, and nephropathy monitoring. High-risk medications were based on recommendations from the American Geriatrics Society Beers Criteria for Potentially Inappropriate Medication Use in Older Adults. Preventable hospitalizations were defined as hospitalizations for a potentially preventable condition. RESULTS: Compared with patients in the PCP only teams, patients in the team care practices with NPs or PAs received more guideline-recommended diabetes care (annual eye exam: adjusted odds ratio (aOR): 1.04 (95% CI: 1.00-1.08), 1.08 (95% CI: 1.03-1.13), and 1.10 (95% CI: 1.05-1.15), and HbA1C test: aOR: 1.11 (95% CI: 1.04-1.18), 1.11 (95% CI: 1.02-1.20), and 1.15 (95% CI: 1.06-1.25) for PCP/NP, PCP/NP/PA, and PCP/PA teams). Patients in the PCP/NP and the PCP/PA teams had a slightly higher likelihood of being prescribed high-risk medications (aOR: 1.03 (95% CI: 1.00-1.07), and 1.06 (95% CI: 1.02-1.11), respectively). The likelihood of preventable hospitalizations was similar among patients cared for by various types of practices. CONCLUSION: The team care practices with NPs or PAs were associated with better adherence to clinical practice guideline recommendations for diabetes compared to PCP only practices. Both practices had similar outcomes. Further efforts are needed to explore new and cost-effective team-based care delivery models that improve process, outcomes, and continuity of care, as well as patient care experiences.

3.
Artigo em Inglês | MEDLINE | ID: mdl-33048755

RESUMO

An event-triggered nonlinear iterative learning control (ET-NILC) method is presented for repetitive nonaffine and nonlinear systems that have 2-D dynamic behavior along both time and iteration directions. Based on the virtual linear data model, the ET-NILC method is proposed by designing an event triggering condition based on the Lyapunov-like stability analysis conducted along the iteration direction. The learning gain function of ET-NILC is nonlinear and updated by designing an iterative learning parameter estimation law to enhance the robustness. From the perspective of the time dynamics, the proposed ET-NILC is a feedforward control and the event-triggering condition can be verified offline using tracking errors, event triggering errors, and the estimated parameters together. Moreover, the proposed ET-NILC is a data-driven scheme since it merely uses I/O data for the design. The results are also extended to repetitive multiple-input-multiple-output (MIMO) nonaffine nonlinear systems using the property of input-to-state stability as the basic mathematical tool. The convergence of the proposed ET-NILC methods is proved. Several simulations illustrate the effectiveness of the proposed methods.

5.
J Cancer Educ ; 2020 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-33068265

RESUMO

Patient knowledge of risk factors, signs and symptoms associated with oral cancers is crucial for increasing the likelihood of patient presentation for opportunistic screening and reducing delay in patient appraisal for early detection. This study aimed to assess the knowledge of oral cancer and to ascertain socio-demographic factors that influence knowledge amongst adult dental patients attending public clinics in Brisbane, Australia. A convenience sample of 213 adult dental patients who attended the Herston and Stafford public health clinics in Brisbane, Australia, between July and August 2019 participated in the self-administered questionnaire. Multivariate analyses were performed to identify predictors for oral cancer knowledge. Patients were well informed of smoking as a risk factor (n = 135; 84.4%), whereas only 53.8% (n = 82) of participants agreed that heavy alcohol consumption was a risk factor. A larger proportion of participants identified difficulty of moving the tongue (n = 79; 49.4%) and pain on swallowing (n = 72; 45.0%) compared to the proportion who identified fixed red patches (n = 61; 38.1%) and fixed white patches (n = 57; 35.6%) as a sign or symptom. Education level and gender were significant knowledge predictors for alcohol (p = 0.01), old age (p = 0.008) and family history (p = 0.004) as a risk factors for oral cancer. Those with a family history of cancer were more likely to identify a red patch (p = 0.02), bleeding gums (p = 0.001) and altered sensation (p = 0.023) as a sign or symptom of oral cancer. Overall, patient knowledge was greater for risk factors than for signs and symptoms for oral cancer. Symptoms associated with later stages of cancer were recognised by a greater proportion of patients compared to early stages of oral cancer. These results indicate the need for targeted public health initiatives to improve patient knowledge.

6.
Int J Nanomedicine ; 15: 7397-7413, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33116478

RESUMO

Background: The toxicity of silica nanoparticles (SiNPs) on cardiac electrophysiology has seldom been evaluated. Methods: Patch-clamp was used to investigate the acute effects of SiNP-100 (100 nm) and SiNP-20 (20 nm) on the transmembrane potentials (TMPs) and ion channels in cultured neonatal mouse ventricular myocytes. Calcium mobilization in vitro, cardiomyocyte ROS generation, and LDH leakage after exposure to SiNPs in vitro and in vivo were measured using a microplate reader. Surface electrocardiograms were recorded in adult mice to evaluate the arrhythmogenic effects of SiNPs in vivo. SiNP endocytosis was observed using transmission electron microscopy. Results: Within 30 min, both SiNPs (10-8-10-6 g/mL) did not affect the resting potential and IK1 channels. SiNP-100 increased the action potential amplitude (APA) and the INa current density, but SiNP-20 decreased APA and INa density. SiNP-100 prolonged the action potential duration (APD) and decreased the Ito current density, while SiNP-20 prolonged or shortened the APD, depending on exposure concentrations and increased Ito density. Both SiNPs (10-6 g/mL) induced calcium mobilization but did not increase ROS and LDH levels and were not endocytosed within 10 min in cardiomyocytes in vitro. In vivo, SiNP-100 (4-10 mg/kg) and SiNP-20 (4-30 mg/kg) did not elevate myocardial ROS but increased LDH levels depending on dose and exposure time. The same higher dose of SiNPs (intravenously injected) induced tachyarrhythmias and lethal bradyarrhythmias within 90 min in adult mice. Conclusion: SiNPs (i) exert rapid toxic effects on the TMPs of cardiomyocytes in vitro largely owing to their direct interfering effects on the INa and Ito channels and Ca2+ homeostasis but not IK1 channels and ROS levels, and (ii) induce tachyarrhythmias and lethal bradyarrhythmias in vivo. SiNP-100 is more toxic than SiNP-20 on cardiac electrophysiology, and the toxicity mechanism is likely more complicated in vivo.

7.
Nanomaterials (Basel) ; 10(10)2020 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-33007950

RESUMO

Leukemia is a common and lethal disease. In recent years, iron-based nanomedicines have been developed as a new ferroptosis inducer to leukemia. However, the cytotoxicity of iron nanoparticles to leukemia cells at the transcriptomic level remains unclear. This study investigated the effects of two kinds of iron nanoparticles, 2,3-Dimercaptosuccinic acid (DMSA)-coated Fe3O4 nanoparticles (FeNPs) as a reactive oxygen species (ROS) inducer and Prussian blue nanoparticles (PBNPs) as an ROS scavenger, on the transcriptomic profiles of two leukemia cells (KG1a and HL60) by RNA-Seq. As a result, 470 and 1690 differentially expressed genes (DEGs) were identified in the FeNP-treated HL60 and KG1a cells, respectively, and 2008 and 2504 DEGs were found in the PBNP-treated HL60 and KG1a cells, respectively. Among them, 14 common upregulated and 4 common downregulated DEGs were found, these genes were representative genes that play key roles in lipid metabolism (GBA and ABCA1), iron metabolism (FTL, DNM1, and TRFC), antioxidation (NQO1, GCLM, and SLC7A11), vesicle traffic (MCTP2, DNM1, STX3, and BIN2), and innate immune response (TLR6, ADGRG3, and DDX24). The gene ontology revealed that the mineral absorption pathway was significantly regulated by PBNPs in two cells, whereas the lipid metabolism and HIF-1 signaling pathways were significantly regulated by FeNPs in two cells. This study established the gene signatures of two kinds of nanoparticles in two leukemia cells, which revealed the main biological processes regulated by the two kinds of iron nanoparticles. These data shed new insights into the cytotoxicity of iron nanoparticles that differently regulate ROS in leukemia cells with variant stemness.

8.
Environ Int ; 146: 106166, 2020 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-33068851

RESUMO

Discharges released from fluorochemical industrial plants lead to severe contamination of the environment with per- and polyfluoroalkyl substances (PFASs), which may pose risks to human health. In this study, 187 serum samples from teenagers (age = 14 years), 22 tap water samples and 40 soil samples were collected in areas within 0-11 km of a fluorochemical industrial plant in Huantai County, Shandong Province, and concentrations of 18 PFASs were quantified by UPLC-MS/MS. Perfluorooctanoic acid (PFOA) was found to be predominant, concentrations of which ranged from 40.4 to 845 ng/mL in serum, from 2.88 to 19.3 ng/L in tap water, from 4.40 to 189 ng/g in soil, and accounting for 84.1-98.6%, 15.9-79.8%, and 73.8-96.7% of the total PFASs, respectively. Statistical analysis demonstrated that concentrations of perfluorinated carboxylic acids (PFCAs) in soil (C5-C9) and serum (C8-C10) were associated with the industrial plant. And PFOA concentrations in tap water were not relevant to the industrial plant, which were comparable with the non-contaminated area and lower than the threshold value recommended by U.S. EPA (70 ng/mL), indicating that the contribution to the high concentration of serum PFOA of local teenagers by drinking water was limited. Moreover, PFCAs in soil only made a limited contribution to the serum PFCAs of local residents by direct inhalation and dermal exposure, but the potential health risk by the soil via food chain should be paid attention to. Furthermore, health risk assessment demonstrated that high concentrations of PFOA in serum could pose potential health risk to local teenagers. Therefore, effective measures should be taken to attenuate the health risks caused by the industrial plant to local residents, and further epidemiological studies should be carried out in the future.

9.
J Mol Diagn ; 22(12): 1469-1475, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33069877

RESUMO

A total of 551 pregnancies with positive results for noninvasive prenatal testing (NIPT) using traditional karyotyping and chromosomal microarray analysis were analyzed. Confirmatory results, positive predictive values, etiology exploration of false-positive results, and pregnancy outcomes were recorded. The study demonstrated that NIPT performed better in predicting trisomy 21 and trisomy 18 for pregnancies with advanced maternal age than for pregnancies with young maternal age; as for trisomy 13 and sex chromosomal aneuploidy (SCA) prediction, there was no significant difference between the two groups. The positive predictive values for trisomy 21, trisomy 18, trisomy 13, and SCA showed no significant upward trend when compared based on specific age categories (an interval of 5 years), which suggested that NIPT-positive result deserves equal attention from both providers and patients regardless of maternal age. In addition, the termination rates of 45,X, 47,XXY, 47,XXX, and 47,XYY were 100% (2/2), 92.9% (26/28), 33.3% (5/15), and 9.5% (2/21), respectively, which demonstrated that the decision-making regarding pregnancies varied greatly according to the types of SCAs, and further reinforce the importance of confirmatory prenatal diagnosis. The current study also supported the viewpoint that confined placental mosaicism and maternal mosaicism were the important etiology of false-positive results.

10.
Med Sci Monit ; 26: e926539, 2020 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-33027245

RESUMO

BACKGROUND The aims of this study were to summarize the clinical characteristics and risk factors for bezoars and to analyze the effectiveness and safety of the endoscopic treatment of bezoars. MATERIAL AND METHODS From January 2015 to February 2020, 75 of the 23 950 patients who underwent gastroscopic examination in our medical center were diagnosed with bezoars. Clinical and treatment information for these patients was collected retrospectively and analyzed. RESULTS The detection rate of bezoars was 0.31%. Risk factors included the time of year (autumn and winter seasons), alcohol consumption, hypertension, diabetes, and residing in the Mentougou district, which is rich in hawthorn and persimmon. Abdominal pain (90.7%) and bloating (80.0%) were common clinical symptoms of bezoars, while gastric mucosa erosion (90.7%) and gastric ulcers (60%) were common manifestations on endoscopic examination. Six patients with bezoars were successfully discharged after drug treatment. The success rate for bezoars treated by gastroscopic lithotripsy was 94.2% (65/69 patients). The factors affecting the therapeutic effect of bezoars include patient age (P=0.025) and bezoar size (P=0.042). Patients with bezoars larger than 9 cm were significantly more likely to have intestinal obstructions than were patients with bezoars smaller than 9 cm (P<0.001). CONCLUSIONS Bezoars mainly occur in elderly patients with diseases such as gastrointestinal dyspraxia and diabetes, and are most common in hawthorn and persimmon producing areas. Endoscopic treatment is safe and effective for bezoars in general, but intestinal obstruction should be considered for bezoars larger than 9 cm.

11.
J Food Sci ; 85(11): 3690-3699, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33073379

RESUMO

Antarctic krill protein (AKP) was extracted from Antarctic krill by an alkali dissolution-isoelectric precipitation method and then it was phosphorylated with sodium tripolyphosphate. The phosphorylated Antarctic krill protein (P-AKP) powder was obtained by spray-drying (SD), freeze-drying (FD), and hot-air drying (AD), and the effects of these drying methods on the structures and functional properties of proteins were investigated. The P-AKP powder dried by SD had the best sensory performance, and its particle size was much smaller than that of FD and AD. Scanning electron microscope displayed a uniform particle size of SD powder and the particles were uniformly dispersed. X-ray diffraction analysis showed a higher crystallinity of SD sample than AD and FD. Differential scanning calorimeter analysis revealed that SD sample had the best thermal stability and less protein denaturation (ΔH = 210.80 J/g), followed by FD (ΔH = 80.48 J/g) and AD (ΔH = 73.94 J/g; P < 0.05). Fourier transform infrared showed that SD sample contained more protein secondary structure. Compared with SD, the phosphorylated group-related chemical bonds in FD and AD samples were partially destroyed. SD sample had the highest protein solubility, oil absorption capacity, emulsifying, and foaming activities than FD and AD (P < 0.05). Although FD had the highest water absorption capacity, sample prepared with AD had the worst functional performance. Therefore, different drying methods used for preparation of the P-AKP can affect its physicochemical and associated functional properties, and SD could be an appropriate drying method for the industrial mass production of P-AKP powders with better functionalities. PRACTICAL APPLICATION: The optimal drying method for preparing the phosphorylated Antarctic krill protein (P-AKP) powder was proved to be spray-drying (SD), because the physicochemical and functional properties were better for P-AKP dried by SD than the other drying methods. Hence, SD was recommended for the industrial mass production of P-AKP powders with better functionalities. This research can provide theoretical guidance for the further processing and utilization of P-AKP, and offer technical reference for food processing and preservation.

12.
Artigo em Inglês | MEDLINE | ID: mdl-32944734

RESUMO

BACKGROUND: Evidence from predominantly non-Hispanic White cohorts indicates healthcare utilization increases before Alzheimer's disease and related dementias (ADRD) is diagnosed. We investigated trends in healthcare utilization by Mexican-American Medicare beneficiaries before and after an incident diagnosis of ADRD. METHODS: Data came from the Hispanic Established Populations for the Epidemiologic Study of the Elderly that has been linked with Medicare claims files from 1999-2016 (n=558 matched cases and controls). Piecewise regression and generalized linear mixed models were used to compare the quarterly trends in any (i.e., one or more) hospitalizations, emergency room (ER) admissions, and physician visits for one year before and one year after ADRD diagnosis. RESULTS: The piecewise regression models showed that the per-quarter odds for any hospitalizations (OR=1.62, 95% CI=1.43-1.84) and any ER admissions (OR=1.40, 95% CI=1.27-1.54) increased before ADRD was diagnosed. Compared to participants without ADRD, the percentage of participants with ADRD who experienced any hospitalizations (27.2% vs 14.0%) and any ER admissions (19.0% vs 11.7%) was significantly higher at one-quarter and three-quarters before ADRD diagnosis, respectively. The per-quarter odds for any hospitalizations (OR=0.88, 95% CI=0.80-0.97) and any ER admissions (OR=0.89, 95% CI=0.82-0.97) decreased after ADRD was diagnosed. Trends for any physician visits before or after ADRD diagnosis were not statistically significant. CONCLUSIONS: Older Mexican-Americans show an increase in hospitalizations and ER admissions before ADRD is diagnosed, which is followed by a decrease after ADRD diagnosis. These findings support the importance of a timely diagnosis of ADRD for older Mexican-Americans.

13.
Fitoterapia ; 146: 104725, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32946947

RESUMO

Myxomycetes, one of the lowest classes of eukaryote (true slime molds), are an unusual group of primitive organisms. Their life cycle consists of two stages, namely the free-living plasmodium and the fruiting body with unique structures and colors. The chemical studies on the secondary metabolites of the myxomycetes are limited due to a lack of understanding of their laboratory cultivation. In this review, 93 natural products from myxomycetes, including their chemical structures and bioactivities were described. We also provided a conceptual overview over five culture methods of myxomycetes, including moist chamber culture, feeding culture, pure culture, liquid culture and hanging drop culture.

14.
Sci Rep ; 10(1): 15094, 2020 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-32934329

RESUMO

Many fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy with copy number variations (CNVs) is unclear. We attempted to explore the relationship between types of ultrasonically abnormal late pregnancy fetuses and CNVs. Fetuses (n = 713) with ultrasound-detected abnormalities in late pregnancy and normal karyotypes were analyzed. Of these, 237 showed fetal sonographic structural malformations and 476 showed fetal non-structural abnormalities. Single nucleotide polymorphism (SNP)-based chromosomal microarray (CMA) was performed on the Affymetrix CytoScan HD platform. Using the SNP array, abnormal CNVs were detected in 8.0% (57/713) of the cases, with pathogenic CNVs in 32 cases and variants of uncertain clinical significance (VUS) in 25 cases. The detection rate of abnormal CNVs in fetuses with sonographic structural malformations (12.7%, 30/237) was significantly higher (P = 0.001) than that in the fetuses with non-structural abnormalities (5.7%, 27/476). Overall, we observed that when fetal sonographic structural malformations or non-structural abnormalities occurred in the third trimester of pregnancy, the use of SNP analysis could improve the accuracy of prenatal diagnosis and reduce the rate of pregnancy termination.

15.
Mol Biol Rep ; 47(10): 7529-7535, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32935260

RESUMO

The q11.2 region on chromosome 22 contains numerous low-copy repeats that lead to deleted or duplicated regions in the chromosome, thereby resulting in different syndromes characterized by intellectual disabilities or congenital anomalies. The association between patient phenotypes and 22q11.2 copy number abnormalities has been previously described in postnatal cases; however, these features have not been systematically evaluated in prenatal cases because of limitations in phenotypic identification in prenatal testing. In this study, we investigated the detection rate of 22q11.2 copy number abnormalities in 2500 fetuses using single nucleotide polymorphism (SNP) array and determined the common abnormal ultrasound findings in fetuses carrying the 22q11.2 copy number abnormalities. The 22q11.2 copy number abnormalities were identified in 13 fetuses with cardiovascular malformations (6/13), kidney malformations (3/13), isolated ultrasound markers (3/13), or high-risk Down syndrome based on maternal serum screening (1/13). Approximately 0.5% (13/2500) of the fetuses harbored 22q11.2 copy number abnormalities. The most frequent ultrasound findings in fetuses with these abnormalities were cardiovascular malformations, followed by kidney malformations and isolated ultrasound markers. Prenatal diagnosis of these genetic abnormalities allows for the delineation of differential diagnoses, characterization of a wide spectrum of associated malformations, and determination of associations that exist between prenatal diagnosis and obstetrical outcomes.

16.
J Clin Lab Anal ; : e23479, 2020 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-32901995

RESUMO

BACKGROUND: Low HbA2 level is an underlying of δ-thalassemia, α-thalassemia, and IDA. Interactions of these disorders can generate a wide spectrum of phenotype, which will pose diagnostic conundrum for clinical assessment, carrier screening, and genetic counseling. METHODS: Subjects with HbA2 levels below 2.0% with normal or reduced hematological parameters were recruited for further investigation. δ-globin gene mutations were identified by DNA sequencing of the HBD gene. Serum ferritin (SF) concentration was determined by the chemiluminescent microparticle immunoassay. The three common deletional α-thalassemia (--SEA /αα, -α3.7 /αα, and -α4.2 /αα) were detected using Gap-PCR, detection of the point mutations in the three nondeletional α-thalassemia (αCS α/αα,αQS α/αα,αWS α/αα), and the 17 common ß-thalassemia was performed using reverse dot blot hybridization (RDB). RESULTS: We had characterized the δ-globin gene mutations in 20 cases, revealing a frequency of 0.4% in the women of reproductive age (20/4 792). Two previously known mutations:-77 T > C and -30 T > C and 3 novel δ-globin gene defects: -44G > A,CD87C > T, and CD134T > A were found. In the selected cases, we also found 85 cases confirmed with (51.2%,85/166) IDA and 39 cases (23.5%,39/166) with common α-thalassemia. Subjects with δ-thalassemia had statistically higher levels of Hb, MCV, and MCH compared with other two groups, whereas statistically lower levels of RDW were seen in δ-thalassemia group. What's more, statistically higher levels of SF were seen in δ-thalassemia group, compared with IDA groups. CONCLUSION: We reported the spectrum of δ-thalassemia mutations for the first time with the frequency of 0.4% among women of reproductive age in Fujian area and found that -77T > C mutation was the most common mutation, followed by -30T > C mutation. What's more, 3 novel δ-globin gene defects: -44G > A,CD87C > T and CD134T > A were found. A thorough analysis of the hematological, electrophoretic characterization, and the level of SF was needed to suspect and further investigate the existence of IDA, α-thalassemia, and δ-thalassemia.

17.
Chem Commun (Camb) ; 56(77): 11406-11409, 2020 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-32853304

RESUMO

A new organocatalytic bicyclization of α-alkynylnaphthalen-2-ols with nitrones was first reported, leading to the convergent synthesis of polycyclic indoles with substantial substitution diversity in generally good yields through scission of the N-O bond of nitrones via [3,3]-sigmatropic rearrangement. This transformation showcases the use of a quinine catalyst in a complicated cascade system that has been shown to effectively construct polycyclic heterocycles via alkyne difunctionalization.

18.
Aging (Albany NY) ; 12(15): 15556-15565, 2020 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-32805723

RESUMO

Because the numbers of detected fetal abnormalities increase as gestation progresses, we evaluated the safety and efficacy of cordocentesis for single nucleotide polymorphism (SNP) analysis tests in 754 women during third trimester pregnancy. Conventional karyotyping was performed on all fetuses, and Affymetrix CytoScan HD was used for SNP-array testing. In addition to the 24 cases with chromosomal abnormalities detected with conventional karyotyping analysis, the SNP-array test identified 56 (7.4%) cases with normal karyotypes but abnormal copy number variations (CNVs). Of those, 24 were pathogenic CNVs and 32 were of uncertain clinical significance. In 742 of the cases, there were abnormal sonographic findings, and cytogenetic abnormalities were detected in 76 cases (10.2%). The largest number of abnormalities involved multiple malformations (21.7%), followed by defects in the lymphatics or effusion (19.0%) or urogenital system (15.3%). The use of SNP-array test fully complemented chromosome karyotype analysis after late cordocentesis. It also improved the detection rate for fetal chromosomal abnormalities and was effective for preventing and controlling the occurrence of birth defects.

19.
J Alzheimers Dis ; 77(3): 1077-1093, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32804146

RESUMO

BACKGROUND: Women are reported more likely to develop depression and dementia. However, the involved mechanism is poorly understood. OBJECTIVE: Here, we clarified the role of estrogen receptor α (ERα) in depression and cognitive deficit in young female rats. METHODS: After being exposed to 7-weeks' chronic unpredicted mild stress (CUMS), the depression resilient rats (Res rats) and depressed rats (Dep rats) were selected according to their records in sucrose preference test, forced swimming test, and open field test. Their cognition abilities were tested by Morris water maze. Proteomic assay, immunoprecipitation, western blotting, immunohistochemical, and Nissl staining were also used to understand the involved mechanism. RESULTS: Compared with control rats and Res rats, Dep rats showed cognitive deficits and hippocampal impairments revealed by proteomic data, neuron losses, increased cleaved caspase-3, ß-catenin phosphorylation, and glycogen synthase kinase3ß (GSK3ß) activation. As ERα, but not ERß, was found declined in hippocampi of Dep rats, 4,4k,4a-(4-propyl-[1H]-pyrazole-1,3,5-triyl) trisphenol (PPT, an ERα agonist, 1 mg/kg/day), was used to treat Dep rats (Dep + PPT). Twenty days later, the depressive behaviors, cognition deficits, and hippocampal neuron loss were rescued in Dep + PPT rats. Furthermore, Res and Dep + PPT rats had higher levels of ß-catenin combined with ERα and lower levels of ß-catenin combined with GSK3ß than Dep rats in hippocampi. CONCLUSION: These results demonstrated hippocampal ERα is an important pro-resilient factor in CUMS-induced depressive behaviors and cognitive deficits. It was also given that the neuroprotection afforded by hippocampal ERα/Wnt interactions have significant implications for cognition and emotion in young females.

20.
Clin Chim Acta ; 510: 638-643, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32858057

RESUMO

Developmental delay/intellectual disability (DD/ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In this study, we evaluated the usefulness of single nucleotide polymorphism (SNP) array in the detection of genetic causes of 102 DD/ID patients from Fujian (China). Of them, clinically relevant variants (including pathogenic and likely pathogenic), variants of uncertain significance (VOUS), and no clinically relevant variants (including likely benign and benign) were detected in 19, 4 and 79 patients, accounting for 18.6%, 3.9% and 77.5%, respectively, with a diagnostic yield of 18.6% in our study. Furthermore, we divided 19 clinically relevant variants into 4 groups, including chromosome aneuploidy (n = 1); large copy number variants (CNVs) (>10 Mb) (n = 8); known genomic disorders (n = 8), and likely pathogenic CNVs (n = 2). Moreover, we discussed our findings with respect to 4 cases of VOUS. Overall, we confirmed that DD/ID is a genetically heterogeneous condition and emphasized the importance of using genome-wide SNP array in the detection of its genetic causes. Additionally, we provided clinical and molecular data of patients with causal chromosomal aberrations, and discussed the potential implication in DD/ID of genes located within those CNVs or regions of homozygosity.

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