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Does non-invasive prenatal testing (NIPT) affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study

Prenat Diagn. 2021 Jun 27. doi: 10.1002/pd.6003. Online ahead of print.

ABSTRACT

OBJECTIVE: To evaluate if Non-Invasive Prenatal Testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands.

METHOD: Data from clinical genetics laboratories and the Working Party on Prenatal Diagnosis and Therapy (2014 – 2018) and previous published data (1991-2013) were used to assess trends for DS LB prevalence and reduction percentage (the net decrease in DS LBs resulting from selective termination of pregnancies). Statistics Netherlands provided general population data.

RESULTS: DS LB prevalence increased from 11.6 per 10,000 in 1991 to 15.9 per 10,000 in 2002 (regression coefficient 0.246 (95% CI: 0.105 to 0.388; p=0.003)). After 2002, LB prevalence decreased to 11.3 per 10,000 in 2014 and further to 9.9 per 10,000 in 2018 (regression coefficient 0.234 (95% CI: -0.338 to -0.131; p<0.001). The reduction percentage increased from 26% in 1991 to 55.2% in 2018 (regression coefficient 0.012 (95%CI: 0.010 to 0.013; p<0.001)). There were no trend changes after introducing NIPT as second-tier (2014) and first-tier test (2017).

CONCLUSIONS: Introducing NIPT did not change the decreasing trend in DS LB prevalence and increasing trend in reduction percentage. These trends may be caused by a broader development of more prenatal testing that had already started before introducing NIPT. This article is protected by copyright. All rights reserved.

PMID:34176145 | DOI:10.1002/pd.6003

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Efficacy Evaluation of a Topical Hyaluronic Acid Serum in Facial Photoaging

Dermatol Ther (Heidelb). 2021 Jun 26. doi: 10.1007/s13555-021-00566-0. Online ahead of print.

ABSTRACT

INTRODUCTION: Hyaluronic acid (HA) acts as a biologic humectant, thus retaining water in the skin, making HA useful as a topical moisturizing ingredient. The goal of the research was to evaluate the ability of a HA facial serum to deliver skin benefits.

METHODS: Forty females 30-65 years of age with Fitzpatrick skin types I-VI who exhibited photoaging used the HA facial serum twice daily with sunscreen. The dermatologist investigator evaluated smoothness, plumping, hydration, fine lines/wrinkles, and global appearance issues on a 5-point ordinal scale. The subjects assessed product tolerability in terms of stinging, itching, and burning. Corneometry was undertaken, with assessments performed at baseline, immediately after application, and at weeks 2, 4, and 6. Facial swabbing and photography were performed at the same intervals on a subset of 15 subjects.

RESULTS: The HA serum demonstrated excellent tolerability and produced an increase in skin hydration (as measured by corneometry) immediately after application of 134% (p < 0.001), with a sustained increase of 55% (p < 0.001) at week 6. At week 6, there was also improvement (p ≤ 0.001) in all evaluated attributes: smoothness (64%), plumping (60%), hydration (63%), fine lines (31%), wrinkles (14%), and overall global assessment (43%). Facial swabbing confirmed an increase in topical HA at week 6 (p = 0.04), accounting for the enhanced skin appearance, but there was no statistically significant increase in IL-1a, indicating no product irritation.

CONCLUSION: Topical HA in a serum formulation provides excellent skin hydration, as demonstrated through clinical, photographic, chemical, and instrumental assessments.

PMID:34176098 | DOI:10.1007/s13555-021-00566-0

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Information Needs of Asian American Breast Cancer Survivors: a Decision Tree Analysis

J Cancer Educ. 2021 Jun 27. doi: 10.1007/s13187-021-02059-2. Online ahead of print.

ABSTRACT

Through a decision tree analysis, this study aimed to determine the characteristics of Asian American breast cancer survivors who had higher decreases in their need for information by a technology-based information and coaching/support program compared with their counterparts. This is a part of a larger randomized controlled trial; only the data from 99 Asian American breast cancer survivors were used for this analysis. The measurement scales included the Memorial Symptom Assessment Scale-Short Form, the Cancer Behavior Inventory, the Questions on Attitudes, Subjective Norm, Perceived Behavioral Control and Behavioral Intention, and the Supportive Care Needs Survey-Short Form 34. The data analysis was done using t-tests, chi-square tests, repeated measurement analyses, and a decision tree analysis. The information needs scores of all the participants decreased during the 3-month intervention period (p < .005). However, only the intervention group had statistically significant decreases in the information needs scores during the 3 months (dif. = – 8.545; p < .005). Those with low social influence scores and high self-efficacy scores had significantly larger decreases in their information needs scores compared with the average change scores (100%, p < 01). Asian American breast cancer survivors with low social influences and high self-efficacy would highly benefit from a technology-based intervention for their need for information.

PMID:34176104 | DOI:10.1007/s13187-021-02059-2

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UMAP-DBP: An Improved DNA-Binding Proteins Prediction Method Based on Uniform Manifold Approximation and Projection

Protein J. 2021 Jun 27. doi: 10.1007/s10930-021-10011-y. Online ahead of print.

ABSTRACT

DNA-binding proteins play a vital role in cellular processes. It is an extremely urgent to develop a high-throughput method for efficiently identifying DNA-binding proteins. According to the current research situation, some methods in machine learning and deep learning show excellent computational speed and accuracy, which are worthy of application. In this work, a novel predictor was proposed to predict DNA binding proteins called UMAP-DBP. Firstly, the feature extraction of primary protein sequence was realized based on physicochemical distance transformation, Profile-based auto-cross covariance and General series correlation pseudo amino acid composition. Secondly, uniform manifold approximation and projection (UMAP) and feature importance score methods were used for feature selection; there is a progressive relationship between them. Finally, the Adaboost operation engine with jackknife test were adopted for predicting DNA-binding proteins. For the jackknife test on the BP1075 and BP594, we obtained an overall accuracy of 82.97% and 82.14%, Cohen’s kappa (CK) of 0.66 and 0.64, respectively. The results illustrate that a feasible method has been developed for predicting DNA-binding proteins by UMAP and Adaboost. This is the first study in which UMAP has been successfully applied to identify DNA-binding proteins. All the datasets and codes are accessible at https://github.com/Wang-Jinyue/UMAP-DBP .

PMID:34176069 | DOI:10.1007/s10930-021-10011-y

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Inflammatory markers in postoperative cognitive dysfunction for patients undergoing total hip arthroplasty: a meta-analysis

Aging Clin Exp Res. 2021 Jun 27. doi: 10.1007/s40520-021-01919-7. Online ahead of print.

ABSTRACT

BACKGROUND: Postoperative cognitive dysfunction (POCD) is a poorly understood disorder, very common even after total hip arthroplasty (THA). It is widely considered that inflammation response play a role in the pathogenesis of POCD.

AIMS: The aim of the present study was to investigate whether inflammation cytokine concentrations could serve as biomarkers for POCD in patients undergoing THA.

METHODS: A systematic search of databases was conducted to retrieve publications measuring circulating inflammatory markers of patients with and without POCD after THA. Inflammatory markers identified in more than two studies were pooled. The standardized mean difference (SMD) and the 95% confidence interval (95% CI) were calculated for each outcome. Fail-safe N statistics was calculated to estimate possible publication bias.

RESULTS: The pooled incidence rate of POCD after THA by combining 11 cohort studies was 31%. A total of five inflammatory markers, CRP, S-100B, IL-1β, IL-6 and TNF-α, were assessed. Significantly higher pre-operative CRP (P = 0.012) and S-100B (P < 0.0001) as well as post-operative CPR (P = 0.005) and IL-6 (P < 0.0001) at 6 h were found in POCD compared with non-POCD patients undergoing THA. Fail-safe N statistics revealed that these results are robust.

DISCUSSION: The current evidence suggests that some of the inflammatory markers, including CRP, S-100B, and IL-6, were correlated with the occurrence of POCD after THA.

CONCLUSION: Monitor of inflammatory markers might help early diagnosis of POCD after THA and development of preventive strategies.

PMID:34176086 | DOI:10.1007/s40520-021-01919-7

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Comparative trace element trends in Posidonia oceanica and its sediments along the Turkish-Mediterranean Sea coast

Environ Sci Pollut Res Int. 2021 Jun 26. doi: 10.1007/s11356-021-15089-6. Online ahead of print.

ABSTRACT

Concentrations of eight trace elements (V, Cr, Ni, Cu, Zn, As, Cd, and Pb) were investigated in Posidonia oceanica leaf blades and sediments sampled from 23 stations along the Turkish-Mediterranean Sea coast. Trace element (TE) concentration in both sediment and P. oceanica showed a statistically significant distribution among sampling stations. Most of the TE concentration in samples varied remarkably among stations without a consistent trend. Concentrations of Zn, Cd, Cu, and Pb in the sediment of all of the sampling stations were determined as non-polluted based on the comparison with the sediment quality guideline index. More than a quarter of the sampling stations were found as moderately or heavily polluted for Cr, Ni, and As. The mean TE concentrations found in the sediment sample in the present study were similar to the concentrations reported from the different parts of the eastern Mediterranean Sea. TE concentrations in P. oceanica were generally lower compared to the concentrations in the sediment except for Cd, Zn, and Cu. While a positive correlation was found for Ni concentrations between sediment and P. oceanica samples, negative correlation was detected for V, Cr, Zn, Cu, As, and Cd concentrations between sediment and P. oceanica. The highest bioaccumulation factor in P. oceanica was calculated for Cd. The study area of the present study, especially the western sites (provinces of Antalya and Muğla), hosts millions of tourists annually and under the influence of intensive human activities in summer. Thus, coastal waters are heavily exposed to TEs and significantly positive correlations were detected between the anthropogenic TE pollutants (As, Cd, Cu, Zn, Pb, and V) and natural sourced TE (Ni and Cr). Based on our data, the Mediterranean Sea coast of Turkey does not present significant levels of Zd, Cd, Cu, and Pb pollution, whereas 65% of the stations were heavily polluted with As. Since As categorized as carcinogenic to humans, seafood sources should be monitored in terms of As concentrations. The current data might be useful in further TE-monitoring studies and TE discharge management strategies.

PMID:34176047 | DOI:10.1007/s11356-021-15089-6

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The impact of TI-RADS in detecting thyroid malignancies: a prospective study

Radiol Med. 2021 Jun 26. doi: 10.1007/s11547-021-01386-0. Online ahead of print.

ABSTRACT

INTRODUCTION: Thyroid ultrasonography (US) is the first-step noninvasive and easily accessible diagnostic method widely used in the detection and characterization of nodular thyroid disease. We aimed to develop a TI-RADS, which is easy to apply and only relies on the counting of suspicious criteria. In order to measure the reliability of the system, we investigated its correlation with fine needle aspiration biopsy (FNAB) and post-surgery histological results.

MATERIALS AND METHODS: In this prospective study, 242 patients who had undergone FNAB with simultaneous cytopathologist in the radiology department between April and August 2016 were analyzed. Before FNAB, the thyroid gland was re-evaluated with US, and TI-RADS classification was made. Demographic characteristics, family thyroid cancer history and radiotherapy history to the neck region were noted.

RESULTS: Of the 242 patients, 17.3% were male (42 males/200 females). US-guided FNAB was applied to all patients. Mean age was 50 ± 13 years (min: 19, max: 82). Both FNAB and final post-surgery histology results showed that sex and age were not statistically significantly associated with malignancy (p = 0.193) TI-RADS criteria and FNAB results revealed a statistically significant association between irregular contours, the state of anteroposterior diameter being longer than transverse diameter, microcalcifications, marked hypoechogenicity, and malignancy (p < 0,05). Thirty patients were TI-RADS ≥ 4, 206 patients were TI-RADS ≤ 3 and there was a significant correlation between TI-RADS and Bethesda classification (p = 0.001). In addition, statistically significant associations were found between malignancy and family history of thyroid cancer (p = 0.035) and radiotherapy history to the neck region (p = 0.01).

CONCLUSION: TI-RADS system after nodule identification is based only on the counting of suspicious criteria. It will be safe and effective to recommend follow-up with low score TI-RADS, benign characters and insufficient FNAB results, and thus, unnecessary thyroidectomy operations will be prevented. It will be easier for surgeons to recommend surgery and persuade the patients for it when patients have high TI-RADS scores. TI-RADS has high power in detecting malignancy by recommending biopsy of suspicious nodules.

PMID:34176050 | DOI:10.1007/s11547-021-01386-0

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Study of visual acuity and contrast sensitivity in diabetic patients with and without non-proliferative diabetic retinopathy

Int Ophthalmol. 2021 Jun 27. doi: 10.1007/s10792-021-01930-x. Online ahead of print.

ABSTRACT

PURPOSE: To analyze high and low contrast visual acuity and contrast sensitivity in diabetic patients without clinically significant macular edema associated or not with non-proliferative diabetic retinopathy.

METHODS: Cross-sectional study of 368 eyes of 368 patients classified into three groups: a) disease-free patients, b) patients with diabetes mellitus (DM) without diabetic retinopathy, c) DM patients with non-proliferative diabetic retinopathy. All patients underwent a complete ophthalmological examination that included high and low contrast visual acuity with 1.25%, 2.5% and 5% contrast chart and Pelli-Robson type contrast sensitivity test.

RESULTS: We observed no statistically significant differences regarding age, intraocular pressure, duration of diabetes or high contrast visual acuity. The eyes of patients with non-proliferative diabetic retinopathy had worse contrast sensitivity (p = 0.03, in both cases) and low contrast visual acuity at 1.5% (p = 0.03 and p = 0.01), 2.5% (p = 0.01, in both cases) and 5% (p = 0.02 and p = 0.04) than patients free of disease or without diabetic retinopathy.

CONCLUSIONS: Analysis of contrast sensitivity and low contrast visual acuity could be considered as markers of visual function impairment in the eyes of patients with non-proliferative diabetic retinopathy.

PMID:34176010 | DOI:10.1007/s10792-021-01930-x

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Clinical utility of a prediction tool to differentiate between breast cancer patients at high or low risk of chemotherapy-induced nausea and vomiting

Support Care Cancer. 2021 Jun 26. doi: 10.1007/s00520-021-06358-8. Online ahead of print.

ABSTRACT

BACKGROUND: A personalized risk model (PRM) that can categorize patients into high or low risk of ≥ grade 2 acute and/or delayed chemotherapy-induced nausea and vomiting (CINV) was previously developed. The current study assessed whether the PMR could accurately stratify patients’ risk for other commonly used CINV endpoints.

METHODS: Data was pooled from a previously reported trial evaluating CINV in patients with breast cancer (BC) receiving neo/adjuvant anthracycline-cyclophosphamide or carboplatin-based chemotherapy. The predictive ability of the PRM was compared to patient experience of any self-reported significant nausea, any vomiting, complete cycle response, and use of rescue medications, over all cycles of chemotherapy.

RESULTS: Data was available from 242 patients over 819 chemotherapy cycles. Irrespective of the chosen antiemetics, significant nausea was common when evaluated across repeated cycles of treatment with an overall incidence of 24.2% in low-risk patients and 34.6% in high-risk patients. Patients identified as high risk of CINV using the PRM were 4.73 (p = 0.011) times more likely to develop significant nausea than those identified as low risk. The PRM did not show any significant statistical differences between both groups in overall vomiting, complete cycle response, or rescue medications use.

CONCLUSION: The PRM was able to identify patients at greater risk of significant nausea but not the other CINV endpoints. As nausea remains a pertinent issue for patients with BC, the PRM could be used to identify these patients a priori for innovative treatment strategies.

PMID:34176018 | DOI:10.1007/s00520-021-06358-8

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Neuropathy severity at the time of oxaliplatin treatment alteration in patients with colon cancer (Alliance A151912)

Support Care Cancer. 2021 Jun 27. doi: 10.1007/s00520-021-06371-x. Online ahead of print.

ABSTRACT

BACKGROUND: Clinical guidelines recommend altering chemotherapy treatment by decreasing, delaying, or discontinuing dosing in patients who are experiencing chemotherapy-induced peripheral neuropathy. There are few data available on the clinical use of treatment alteration including the severity of CIPN at the time of treatment alteration.

METHODS: This was a retrospective analysis of patients receiving oxaliplatin on the NCCTG N08CB trial. Neuropathy severity was assessed at each cycle by clinicians and patients. Patients were classified as (1) completed treatment without alteration, (2) dose reduction or delay due to neuropathy, (3) discontinuation due to neuropathy, (4) discontinuation for other toxicity, or (5) discontinuation for another reason (5). Comparisons focused primarily on patients with alteration due to neuropathy (groups 2 and/or 3) compared with patients who completed treatment without alteration (group 1).

RESULTS: In 350 participants, 135 (39%) completed treatment without alteration, 70 (20%) had a dose reduction or delay due to neuropathy, and 35 (10%) discontinued early due to neuropathy. Clinician-assessed neuropathy severity was greater in patients at the time of dose reduction or delay compared with severity at the end of treatment in patients without alteration (p < 0.0001). Patient-reported neuropathy severity at cycle 4 was worse in patients who eventually had a reduction or delay as compared with patients who completed treatment without alteration (p = 0.017).

CONCLUSIONS: Treatment alterations due to neuropathy are common in patients receiving oxaliplatin for colon cancer and are associated with clinician-assessed neuropathy severity. Rapid increases in patient-reported neuropathy severity indicate a potential need for monitoring and intervention.

TRIAL REGISTRATION: Clinicaltrials.gov Identifier: NCT01099449 (NCCTG N08CB).

PMID:34176021 | DOI:10.1007/s00520-021-06371-x