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1.
Opt Express ; 27(21): 29992-30008, 2019 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-31684254

RESUMO

Photolithography is at the core of the semiconductor industry that is used to fabricate microscale and nanoscale integrated circuits. Inverse lithography is a technique extensively used to compensate for lithography patterning distortions. It refers to methods that pre-distort the photomask patterns such that their projection, through the photolithography system, results in a pattern that is as close as possible to the intended original. However, most inverse lithography technique (ILT) methods suffer from large computational complexity. This paper develops a nonlinear compressive sensing framework for ILT that effectively improves the computational efficiency and image fidelity, while at the same time controlling the mask complexity. Based on a nonlinear lithography imaging model, the compressive ILT is formulated as an inverse optimization problem aimed at reducing the patterning error, and enforcing the sparsity and low rank properties of the mask pattern. A downsampling strategy is adopted to reduce the dimensionality of the cost function, thus alleviating the computational burden. Sparsity and low-rank regularizations are then used to constrain the solution space and reduce the mask complexity. The split Bregman algorithm is used to solve for the inverse optimization problem. The superiority of the proposed method is verified by a set of simulations and comparison to traditional ILT algorithms.

2.
Clin Oral Investig ; 2019 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-31728734

RESUMO

OBJECTIVES: To establish one method that can be used to quantitatively evaluate the condyle positional changes with 3D images in postoperative mandibular prognathism patients. MATERIALS AND METHODS: This is a retrospective observational study. Twenty-one patients who underwent bilateral sagittal split ramus osteotomy (BSSRO) were scanned with cone beam computed tomography (CBCT) for temporomandibular joints (TMJs) at 1 week preoperatively (T0), 1 to 2 weeks (T1), 3 months (T2), 6 months (T3), and 12 months (T4) postoperatively. The data were then grouped into T0T1, T1T2, T2T3, T3T4 and T0T1, T0T2, T0T3, and T0T4. Semi-automatic registration was conducted, and the condyle positional changes were measured in segmented 3D models. Inter- and intra-observer variability and the repeatability of registration were analyzed with paired t test; the repeated measurement analysis of variance was used for analyzing the repeatability of the marked points; the consistency of segmentation was analyzed with nonparametric test of multiple paired samples (Friedman test) and the independent-sample t test was applied to comparing changes between different periods of time. Differences were considered to be statistically significant when P < 0.05. RESULTS: In T0T1 and T1T2, the condylar position was changed greatly. In T2T3, the mean condylar translations were less than 0.2 mm in all directions, the mean rotational changes of condyle were less than 0.2 mm; in the period of T3T4, the mean condylar translations in all directions were less than 0.02 mm. For series 2, the condyle translational changes in axial, coronal, and sagittal views were within 0.10 mm, and the rotation direction of condyle in all three views was the same within 1 year after operation. CONCLUSIONS: Fused three-dimensional images can be used to qualitatively and quantitatively evaluate condyle positional changes. The condylar position might be stable at 3 months postoperatively. The condyles of most of patients did not fully return to their preoperative position within 1 year after the operation. CLINICAL RELEVANCE: One method for fusing images has been established to detect the condylar positional changes. This method may be applied to estimate the bony changes of condyle, even bony changes in other part of dentomaxillofacial region. Meanwhile, the data of condyle positional changes from asymptomatic patients after the surgery within 1 year can be used as a reference for further exploration of the relationship between orthognathic surgery and the occurrence of osteoarthritis postoperatively in the future. KEY POINTS: • By fused 3D images, the change of condylar position after bilateral sagittal split ramus osteotomy can be observed intuitively. • For the patients with mandibular prognathism, the condylar position would be stable at 3 months postoperatively. • The condyles of most mandibular prognathism patients did not fully return to their preoperative position within 1 year after operation.

3.
Mol Psychiatry ; 2019 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-31673123

RESUMO

Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by repetitive motor movements and vocal tics. The clinical manifestations of TS are complex and often overlap with other neuropsychiatric disorders. TS is highly heritable; however, the underlying genetic basis and molecular and neuronal mechanisms of TS remain largely unknown. We performed whole-exome sequencing of a hundred trios (probands and their parents) with detailed records of their clinical presentations and identified a risk gene, ASH1L, that was both de novo mutated and associated with TS based on a transmission disequilibrium test. As a replication, we performed follow-up targeted sequencing of ASH1L in additional 524 unrelated TS samples and replicated the association (P value = 0.001). The point mutations in ASH1L cause defects in its enzymatic activity. Therefore, we established a transgenic mouse line and performed an array of anatomical, behavioral, and functional assays to investigate ASH1L function. The Ash1l+/- mice manifested tic-like behaviors and compulsive behaviors that could be rescued by the tic-relieving drug haloperidol. We also found that Ash1l disruption leads to hyper-activation and elevated dopamine-releasing events in the dorsal striatum, all of which could explain the neural mechanisms for the behavioral abnormalities in mice. Taken together, our results provide compelling evidence that ASH1L is a TS risk gene.

4.
Artigo em Inglês | MEDLINE | ID: mdl-31713089

RESUMO

PURPOSE: Studies have shown the association between tongue color and diseases. To help clinicians make more objective and accurate decisions quickly, we take unsupervised learning to deal with the basic clustering of tongue color in a 2D way. METHODS: A total of 595 typical tongue images were analyzed. The 3D information extracted from the image was transformed into 2D information by principal component analysis (PCA). K-Means was applied for clustering into four diagnostic groups. The results were evaluated by clustering accuracy (CA), Jaccard similarity coefficient (JSC), and adjusted rand index (ARI). RESULTS: The new 2D information totally retained 89.63% original information in the L*a*b* color space. And our methods successfully classified tongue images into four clusters and the CA, ARI, and JSC were 89.04%, 0.721, and 0.890, respectively. CONCLUSIONS: The 2D information of tongue color can be used for clustering and to improve the visualization. K-Means combined with PCA could be used for tongue color classification and diagnosis. Methods in the paper might provide reference for the other research based on image diagnosis technology.

5.
Sci Rep ; 9(1): 16697, 2019 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-31723171

RESUMO

Although largemouth bass Micropterus salmoides has shown its extremely economic, ecological, and aquacultural significances throughout the North American and Asian continents, systematic evaluation of genetic variation and structure of wild and cultured populations of the species is yet to be documented. In this study, we investigated the genetic structure of M. salmoides from 20 wild populations and five cultured stocks across the United States and China using eight microsatellite loci, which are standard genetic markers for population genetic analysis. Our major findings are as follows: (1) the result of Fst showed largemouth bass had high genetic differentiation, and the gene flow indicated the genetic exchange among wild populations is difficult; (2) AMOVA showed that 14.05% of the variation was among populations, and 85.95% of the variation was within populations; (3) The majority of largemouth bass populations had a significant heterozygosity excess, which is likely to indicate a previous population bottleneck; (4) Allelic richness was lower among cultured populations than among wild populations; (5) Effective population size in hatcheries could promote high levels of genetic variation among individuals and minimize loss of genetic diversity; China's largemouth bass originated from northern largemouth bass of USA. The information provides valuable basis for development of appropriate conservation policies for fisheries and aquaculture genetic breeding programs in largemouth bass.

6.
Int J Rheum Dis ; 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31701644

RESUMO

OBJECTIVE: SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is an autoimmune disease of unknown etiology that seriously affects patients' daily lives. Family-based investigations support genetic contributions toward disease susceptibility. The present study evaluated whether the previously reported autoimmune disease-associated single nucleotide polymorphisms (SNPs) have any genetic overlap with SAPHO syndrome. METHOD: Genomic DNA was obtained from 71 SAPHO patients and 104 healthy controls. The SNP genotypes of each patient were determined with polymerase chain reaction and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Genotype, allele, and haplotype frequencies were analyzed with SPSS software. RESULTS: Three SNP sites (rs10889677 and rs2201841 of interleukin [IL]-23R, and rs2243248 of IL-4) showed significant correlation with the occurrence of SAPHO syndrome in additive and dominant genetic models, while rs7517847 of IL-23R showed substantial correlation with SAPHO in the dominant genetic model. The G allele of rs2243248 (IL-4) was a high risk factor for SAPHO (P = 2.41e-5, odds ratio [OR] =7.79, 95% CI: 2.59-23.3). The haplotype (A-G-C-G-T), comprising 5 SNPs of the IL-23R gene, had a significantly higher frequency in the SAPHO cohort than in the controls (P = .011, OR = 2.05, 95% CI: 1.12-3.60). CONCLUSION: Variants rs10889677, rs2201841, and rs7517847 of IL-23R, and variant rs2243248 of IL-4, showed strong associations with SAPHO syndrome. Patients carrying the A-G-C-G-T haplotype of IL-23 are significantly more likely to develop SAPHO syndrome.

7.
CNS Neurosci Ther ; 2019 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-31578804

RESUMO

AIMS: To investigate the functions and underlying mechanisms of AXL receptor tyrosine kinase (AXL) in tumor proliferation and chemoresistance to temozolomide (TMZ) in glioblastoma (GBM). METHODS: With a kinome-wide bioinformatics analysis, AXL was found to be an essential kinase candidate in TMZ chemoresistance promotion. Additionally, the biological functions of AXL in oncogenesis and TMZ resistance were clarified by using qRT-PCR, Western blotting, and in vivo intracranial GBM xenograft models followed the induction of TMZ resistance in U87 or U251 cells. Additionally, immunohistochemistry (IHC) assays were used to investigate the correlation of AXL on the survival of patients with glioma. Finally, the Chou-Talalay model was performed to confirm the synergistic effect of AXL inhibitor TP-0903 with TMZ. RESULTS: Elevated AXL expression significantly correlated with adverse outcomes of patients with glioma, especially patients with GBM. Moreover, AXL knockdown reduced tumorigenesis and TMZ resistance in vitro and in vivo; however, exogenous AXL overexpression induced TMZ resistance in GBM. Lastly, a specific AXL inhibitor, TP-0903, dramatically decreased tumor growth and increased sensitivity to TMZ via a synergistic effect. CONCLUSION: AXL contributed to chemoresistance to TMZ in GBM and could be used as a novel prognostic biomarker and therapeutic target for GBM.

8.
Sci Rep ; 9(1): 15380, 2019 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-31653901

RESUMO

Small artery occlusion (SAO) is the one of the primary subtype of ischemic stroke in China. However, its outcomes among elderly patients are unclear. Consecutive patients with SAO were recruited at Jiamusi University First Hospital, China between January 2008 and December 2016. Stroke subtype, severity, and risk factors were collected; outcomes at 3, 12, and 36 months after stroke onset were assessed. A total of 1464 SAO patients were included in this study. Participants aged ≥75 years had higher dependency rates than Participants aged <75 years with SAO in all three follow-up periods, in addition to a higher recurrence rate at 12 months and a higher mortality rate 36 months after stroke. After adjusting for confounders, elevated triglyceride level was found to be a protective factor against mortality 36 months after stroke. Stroke severity, diabetes mellitus, artery stenosis, gender, obesity, and high-density lipoprotein cholesterol level were independently associated with the risk of dependency; elevated triglyceride level was an independent risk factor for recurrence at 3 months point after stroke onset. These findings suggest that it is vital to manage risk factors that may affect prognosis of stroke among elderly patients with SAO to improve patient prognosis and reduce the burden of stroke in China.

9.
J Diabetes Res ; 2019: 9696521, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31565658

RESUMO

Interventional therapies, such as percutaneous transluminal angioplasty and endovascular stent implantation, are used widely for the treatment of diabetic peripheral vascular complications. Reendothelialization is an essential process in vascular injury following interventional therapy, and hyperglycemia in diabetes mellitus (DM) plays an important role in damaging endothelial layer integrity, leading to the retardance of reendothelialization and excessive neointimal formation. Notoginsenoside Fc (Fc), a novel saponin isolated from Panax notoginseng, effectively counteracts platelet aggregation. Nevertheless, the potential effects and molecular mechanisms of Fc on reendothelialization have yet to be explored. In this study, we present novel findings that show the benefit of Fc in accelerating reendothelialization and alleviating excessive neointimal formation following carotid artery injury in diabetic Sprague-Dawley rats in vivo. Simultaneously, the decreased autophagy of the injured carotid artery in diabetic rats was restored by Fc treatment. Our in vitro results also demonstrated that Fc promoted endothelial cell proliferation and migration under high-glucose treatment by increasing autophagy. In summary, this study supported the notion that Fc could accelerate reendothelialization following vascular injury in diabetic rats by promoting autophagy, suggesting that Fc may exert therapeutic benefits for early endothelial injury and restenosis following intervention in diabetes-associated vascular diseases.

10.
PLoS Med ; 16(10): e1002926, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31574092

RESUMO

BACKGROUND: Diabetes mellitus (DM) increases the risk of adverse maternal and neonatal outcomes, and optimization of glycemic control during pregnancy can help mitigate risks associated with diabetes. However, studies seldom focus precisely on maternal blood glucose level prior to pregnancy. We aimed to evaluate the associations between preconception blood fasting plasma glucose (FPG) level and subsequent pregnancy outcomes. METHODS AND FINDINGS: We conducted a population-based retrospective cohort study among 6,447,339 women aged 20-49 years old who participated in National Free Pre-Pregnancy Checkups Project and completed pregnancy outcomes follow-up between 2010 and 2016 in China. During the preconception health examination, serum FPG concentration was measured, and self-reported history of DM was collected. Women were classified into three groups (normal FPG group: FPG < 5.6 mmol/L and no self-reported history of DM; impaired fasting glucose [IFG]: FPG 5.6-6.9 mmol/L and no self-reported history of DM; and DM: FPG ≥ 7.0 mmol/L or self-reported history of DM). The primary outcomes were adverse pregnancy outcomes, including spontaneous abortion, preterm birth (PTB), macrosomia, small for gestational age infant (SGA), birth defect, and perinatal infant death. Logistic regression model was used to calculate odds ratio (OR) and 95% confidence interval (CI) after adjusting for confounding variables. The mean age of women was 25.24 years, 91.47% were of Han nationality, and 92.85% were from rural areas. The incidence of DM and IFG was 1.18% (76,297) and 13.15% (847,737), respectively. Only 917 (1.20%) women reported a history of DM (awareness of their DM status), of whom 37.28% (337) had an elevated preconception FPG level (≥ 5.6 mmol/L), regarded as noncontrolled DM. A total of 1,005,568 (15.60%) women had adverse pregnancy outcomes. Compared with women with normal FPG, women with IFG had higher risks of spontaneous abortion (OR 1.08; 95% CI 1.06-1.09; P < 0.001), PTB (1.02; 1.01-1.03; P < 0.001), macrosomia (1.07; 1.06-1.08; P < 0.001), SGA (1.06; 1.02-1.10; P = 0.007), and perinatal infant death (1.08; 1.03-1.12; P < 0.001); the corresponding ORs for women with DM were 1.11 (95% CI 1.07-1.15; P < 0.001), 1.17 (1.14-1.20; P < 0.001), 1.13 (1.09-1.16; P < 0.001), 1.17 (1.04-1.32; P = 0.008), and 1.59 (1.44-1.76; P < 0.001). Women with DM also had a higher risk of birth defect (OR 1.42; 95% CI 1.15-1.91; P = 0.002). Among women without self-reported history of DM, there was a positive linear association between FPG levels and spontaneous abortion, PTB, macrosomia, SGA, and perinatal infant death (P for trend <0.001, <0.001, <0.001, 0.001, <0.001). Information about hypoglycemic medication before or during pregnancy was not collected, and we cannot adjust it in the analysis, which could result in underestimation of risks. Data on 2-hour plasma glucose level and HbA1c concentration were not available, and the glycemic control status was evaluated according to FPG value in women with DM. CONCLUSIONS: Women with preconception IFG or DM had higher risk of adverse pregnancy outcomes, including spontaneous abortion, PTB, macrosomia, SGA, and perinatal infant death. Preconception glycemic control through appropriate methods is one of the most important aspects of preconception care and should not be ignored by policy makers.

11.
Ann Clin Lab Sci ; 49(5): 619-631, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31611205

RESUMO

Acute coronary syndrome (ACS) patients treated with dual antiplatelet therapy (DAPT) show individual differences in platelet reactivity (PR). Here, we aim to find differences in the platelet microRNA (miRNA) expression profiles of high PR and low PR patients to serve as potential biomarkers. ADP-induced platelet aggregation (PAG) was used to determine PR. High-throughput sequencing technology was used to profile differentially expressed platelet miRNAs in high PR (PAG>50%) and low PR (PAG≤50%) patients. We used real-time quantitative reverse transcription-polymerase chain reactions (RT-qPCR) to validate the sequencing results. Finally, we statistically evaluated the diagnostic value of the miRNAs and explored their molecular function using bioinformatic analysis. The results show that miR-204-5p was confirmed to be significantly upregulated in the high PR group. The area under the ROC curve (AUC) of miR-204-5p was 0.667, and its expression significantly correlated with the Gensini score. Stepwise binary logistic regression analysis suggested that miR-204-5p expression level was an independent predictor of PR. Furthermore, bioinformatic analysis showed that miR-204-5p may be associated with platelet synapse formation and platelet vesicle release. Our data indicates that platelet miR-204-5p may serve as a novel biomarker of PR to guide treatment with antiplatelet drugs.

12.
J Rheumatol ; 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31615912

RESUMO

OBJECTIVE: SAPHO syndrome is a type of rare chronic aseptic inflammation of unknown etiology. To date, no research has reported copy number variation (CNV) of genes that could affect the predisposition of SAPHO syndrome. Therefore, this study aimed to explore the association between CNV profile and SAPHO syndrome. METHODS: We used array CGH to screen for CNV in a nuclear family including two patients and a healthy control. We then validated the copy numbers of candidate genes found in the array CGH assay and other candidate genes by Taqman real-time PCR in 360 case and control samples. RESULTS: Ten regions from eight chromosomes were found to have abnormal gene copies in the nuclear family, so the CNV of candidate genes (ADAM5, CSF2RA, IL3RA, and nine other genes) were tested by Taqman PCR. Significant copy number loss of CSF2RA (P = 0.000) and NOD2 (P = 0.005), and significant copy number gain of MEGF6 (P = 0.002) and ADAM5 (P = 0.000) were seen in SAPHO patients compared with controls at the a = 0.05 level. There were no differences in the other eight candidate genes between SAPHO patients and control samples (P > 0.05). CONCLUSION: Our study established the first association between CNV in CSF2RA, NOD2, MEGF6, and ADAM5 and SAPHO syndrome. These findings may offer insights into the pathogenesis of SAPHO and provide the basis for improved diagnosis and treatment.

13.
Biol Reprod ; 2019 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-31616914

RESUMO

Pentachloronitrobenzene (PCNB) is an organochlorine fungicide widely used for crop production and has become an environmental concern. Little is known about the effect of PCNB on ovarian steroidogenesis and follicular development. We found that PCNB stimulated Star expression and progesterone production in cultured rat granulosa cells in a dose-dependent manner. PCNB activated MAPK3/1 (ERK1/2), thus inhibition of either PKA or MAPK3/1 signalling pathway significantly attenuated progesterone biosynthesis caused by PCNB, suggesting that PCNB induced progesterone production by activating the cAMP/PKA and MAPK3/1 signalling pathways. Further investigation demonstrated that PCNB induced Star expression and altered MAPK3/1 signalling in ovary tissues of immature SD rats treated with PCNB at the dose of 100, 200 or 300 mg/kg by daily gavage for 7 days, while serum progesterone level was dose-dependently decreased. We demonstrated that PCNB exposure accelerated the recruitment of primordial follicles into the growing follicle pool in ovary tissues, accompanied by increased levels of AMH in both ovary tissues and serum. Taken together, our data demonstrate for the first time that PCNB stimulated Star expression, altered MAPK3/1 signalling and progesterone production in vivo and in vitro, and accelerated follicular development with a concomitant increase in AMH in ovary tissues and serum. Our findings provide novel insight into the toxicity of PCNB to animal ovary function.

14.
Mol Genet Genomic Med ; : e1004, 2019 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-31625690

RESUMO

BACKGROUND: Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid-hindbrain malformation called the "molar tooth sign" on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative genes of JS. METHODS: Whole exome sequencing was performed to detect the causative gene mutations in a Chinese patient with JS followed by Sanger sequencing. RT-PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (CEP104, OMIM: 616690). RESULTS: We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) (GenBank: NM_014704.3) and consistent with the autosomal recessive inheritance mode. CONCLUSION: Our study reported the fourth case of JS patients with CEP104 mutations, which expands the mutation spectrum of CEP104 and elucidates the clinical heterogeneity of JS.

15.
Opt Express ; 27(16): 22563-22581, 2019 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-31510546

RESUMO

Extreme ultraviolet (EUV) lithography emerges as a promising technique to fabricate next-generation integrated circuits. In order to improve the lithography imaging fidelity, source optimization (SO) technique is widely used to compensate for the imaging distortion. This paper develops an efficient learning-based SO approach for EUV lithography under the compressive sensing (CS) framework. The dimensionality of EUV-SO problem is significantly reduced by sparsely sampling the layout pattern. Then, the EUV-SO is formulated as an l1-norm inverse reconstruction problem based on the sparse prior of source patterns. The cost function is established based on a rigorous imaging model to take into account the characteristic effects in EUV lithography systems. In addition, a learning-based method is proposed to jointly optimize the source dictionary and projection matrix according to the sparsity and incoherence conditions in CS theory. The optimal source dictionary and projection matrix can be learned from a set of training samples collected from typical layout features in advance. Then, the optimized dictionary and projection matrix can be repetitively used in the following SO algorithms. Based on a set of simulations, the proposed SO method is proved to achieve good performance in both imaging fidelity and computational efficiency.

16.
Sci Total Environ ; 697: 134162, 2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31491637

RESUMO

Although human exposure to perfluoroalkyl acids (PFAAs) through tap water is an ongoing concern, knowledge of the PFAAs occurrence in the tap water and the associated transport behaviors of PFAAs in drinking water distribution systems (DWDSs) are scarce. This investigation profiled the occurrence of 17 kinds of PFAAs in tap water of some Chinese cities, and the transport behaviors of PFAAs in DWDS were observed in eastern China. Tap water samples both along trunk pipelines and at the distal ends were collected to display the PFAAs occurrence scenarios. Loose deposit solids were also obtained to reveal their possible accumulation effect on PFAAs. The results showed that perfluorooctanoic acid (PFOA) and perfluorobutanoic acid (PFBA) widely existed in tap water samples, and were the predominant PFAAs in eastern China areas. The mean concentration of the 17 PFAAs was 77.49 ng/L (ranging from 9.29 ng/L to 266.68 ng/L). Short-chain PFAAs (mainly PFBA) concentrations were relatively stable from water treatment plant to consumer taps, while long-chain PFAAs (mainly PFOA) exhibited a significant decrease in concentration, which could be attributed to their accumulation by the loose deposits in the DWDSs. It was calculated that PFOA has a higher partition coefficient than PFBA; this means that the former has a stronger potential to be adsorbed by loose deposits. In addition, the accumulation ability of loose deposits might be associated with the composition of Al, Fe and Si in the loose deposits. The positive correlation between the short-chain PFAAs and dissolved organic carbon (DOC) indicated the possible interactions between PFAA and natural organic matter could favor short-chain PFAAs to retain in bulk water. When water quality conditions change or hydraulic disturbance occur, loose deposits may enter tap water bringing accumulated PFAAs with it, which may result in potential health risks.

17.
Clin Nutr ; 2019 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-31542246

RESUMO

OBJECTIVES: The aim of this study was to systematically assess the nutrition care procedures in nutrition guidelines for cancer patients and identify gaps limiting evidence-based practise. METHODS: A systematic search of databases and websites was conducted to identify nutrition guidelines for cancer patients. The quality of the eligible guidelines was evaluated by using the Appraisal of Guidelines for Research and Evaluation (AGREE II). The Measurement Scale of Rate of Agreement (MSRA) was used to assess the scientific agreement of formulated recommendations for nutrition care procedures in the guidelines (2017-2019), and evidence supporting these recommendations was extracted and analysed. RESULTS: Seventeen nutrition guidelines for cancer patients were identified. Only European Society for Clinical Nutrition and Metabolism (ESPEN) and Australian guidelines have a total quality score of more than 60%, which is worthy of clinical recommendation. Twelve guidelines (2017-2019) were included to further analyse the heterogeneity and causes of nutrition care procedures, and we found that the content and tools of nutrition screening and assessment, the application of immune nutrients, and the selection of nutritional support pathways were heterogeneous. The main reasons for the heterogeneity of nutrition care procedures were insufficient attention to nutrition risk screening, differences in recommendations for nutrition assessment, immune nutrients and nutritional support, unreasonable citation of screening and assessment evidence, preference of developers, and lack of evidence of high-quality research on energy and nitrogen demand. In addition, the fairness and propensity of the guidelines for the selection of evidence for different cancer patients are also potential reasons for the heterogeneity of nutritional care procedures. CONCLUSIONS: The quality of the nutrition guidelines for cancer patients was highly variable. The nutrition care procedures were heterogeneous among the different guidelines in the last 3 years. Specific improvement of the factors leading to the heterogeneity of nutrition care procedures will be a reasonable and effective way for developers to upgrade the nutrition care procedures in the guidelines for cancer patients.

18.
Mol Vis ; 25: 427-437, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31523120

RESUMO

Purpose: To identify mutations in crystallin genes in Chinese families with congenital cataracts. Methods: Forty-two unrelated families with non-syndromic congenital cataracts were enrolled in this study. The coding exons and adjacent intronic regions of crystallin genes, including CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD and CRYGS, were analyzed with Sanger sequencing. Novel variants were further evaluated in 112 ethnically matched controls. To confirm the novel mutations, short tandem repeat (STR) haplotypes were constructed to check the cosegregation with congenital cataract. The pathogenic potential of the novel mutations were assessed using bioinformatics tools, including Sorting Intolerant From Tolerant v5.1.1 (SIFT), Polymorphism Phenotyping v2 (PolyPhen-2), and Human Splicing Finder. The pathogenicity of all the mutations was evaluated according to the guidelines of the American College of Medical Genetics (ACMG) and InterVar software. Results: Seven previously reported mutations in crystallin genes identified in ten unrelated families were associated with the congenital nuclear cataracts. Four novel mutations in crystallin genes, including c.35G>T (p.R12L) in CRYAA, c.463C>A (p.Q155K) in CRYBB2, IVS1 c.10-1G>A in CRYGC, and c.346delT (p.F116Sfsx29) in CRYGD, were identified in four unrelated families with congenital cataracts. These mutations cosegregated with all affected individuals in each family were not observed in the unaffected family members or in the 112 unrelated controls. All four novel mutations were categorized as disease "likely pathogenic" except IVS1 c.10-1G>A in CRYGC "pathogenic" using InterVar software in accordance with the ACMG standard. Mutations in crystallin genes were responsible for 33.33% of the Chinese families with congenital cataracts in this cohort. Conclusions: In this study, we identified four novel mutations in crystallin genes in Chinese families with congenital cataracts. The results expand the mutational spectrum of crystallin genes, which may be helpful for the molecular diagnosis of congenital cataracts in the era of precision medicine.

19.
J Craniofac Surg ; 30(7): e597-e598, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31503121

RESUMO

The calcification of the articular disc is an uncommon lesion, usually discovered in hips, elbows, and shoulders, but rarely in temporomandibular joints (TMJ). The TMJ disc calcification may be related to pain and limitation of the mandibular mobility, however, most of the patients were asymptomatic. A 61-year-old female was referred to our hospital after a maxillofacial fist injury, bilateral TMJ disc calcifications were found accidentally by radiological examination. Here the significance of image fusion of cone-beam computed tomography and magnetic resonance imaging (MRI) in the diagnosis of this lesion was emphasized.

20.
Hum Genomics ; 13(1): 50, 2019 09 13.
Artigo em Inglês | MEDLINE | ID: mdl-31519209

RESUMO

BACKGROUND: Pre-eclampsia (PE) is regarded as the leading cause of maternal and neonatal morbidity and mortality. Nevertheless, the potential mechanism for the regulation of trophoblast behaviors and the pathogenesis of PE remain largely elusive. Recently, accumulating evidence emphasized that aberrant expression of long non-coding RNAs (lncRNAs) functions as imperative regulators in human diseases, including PE. Thus, identifying PE-related specific lncRNAs to uncover the underlying molecular mechanism is of much significance. However, the functional roles and underlying mechanisms of lncRNAs in PE progression remain unclear. METHOD: Placenta tissues obtained from patients with PE and healthy pregnant women were performed to measure TUG1 expression by qRT-PCR analysis. Transient transfections were conducted to alter TUG1 expression. Cell Counting Kit-8 (CCK-8) and flow cytometry assays were carried out to assess cell proliferation and apoptosis, respectively. Transwell and tube formation assays were performed to measure the capacity of cell invasion and angiogenesis. Moreover, the luciferase reporter assay was subjected to verify the binding relationship between TUG1 and miR-29b. Western blot analysis was performed to detect the expression of key proteins in the PI3K/AKT and ERK pathway. RESULTS: Here, we identified a lncRNA, TUG1, which was notably decreased in placental samples of PE patients. Functional experiments of loss- or gain-of-function assays also verified that ectopic expression of TUG1 promoted cell proliferation, invasion, and angiogenesis, but negatively regulated cell apoptosis, whereas TUG1 inhibition presented the opposite effects. Furthermore, mechanistic researches revealed that TUG1 could act as a molecular sponge for miR-29b, thus regulating MCL1, VEGFA, and MMP2 to modulate PE development. CONCLUSIONS: Taken together, our findings demonstrated that TUG1 exerts as a critical role in PE progression, which might furnish a novel therapeutic marker for PE treatment.

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