SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma

BackgroundTraditional genotype-phenotype correlations for the succinate dehydrogenase-complex II (SDH) genes link SDHB variants to thoracic-abdominal pheochromocytoma-paraganglioma (PPGL) and SDHD variants to head and neck paraganglioma (HNPGL). However, in a recent study we found strong and specific genotype-phenotype associations for SDHD variants. In the present study we zoom in on the genotype-phenotype associations of SDHB gene variants, considering the impact of individual gene variants on disease risk and risk of malignancy.MethodsWe analysed two large independent data sets, including a total of 448 patients with PPGL and HNPGL, and studied the association of missense or truncating SDHB variants with tumour incidence, age of onset and malignancy risk using binomial testing and Kaplan-Meier analysis.ResultsCompared with missense variants, truncating SDHB variants were significantly and consistently more common in patients with PPGL, by a 20 percentage point margin. Malignancy was also significantly more common in truncating versus missense variant carriers. No overall differences in age of PPGL onset were noted between carriers of the two variant types, although some individual variants may differ in certain cases. Missense variants were marginally over-represented among patients with HNPGL, but the difference was not statistically significant.ConclusionSDHB truncating variants convey an elevated risk for development of both PPGL and malignancy compared with missense variants. These results further support earlier robust associations between truncating variants and PPGL, and also suggest that the two variant types differ in their impact on complex II function, with PPGL/HNPGL tissues displaying differing sensitivities to changes in complex II function.

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The impact of financial incentives on SNAP transactions at mobile produce markets

International Journal of Behavioral Nutrition and Physical Activity ◽

10.1186/s12966-021-01093-z ◽

2021 ◽

Vol 18 (1) ◽

Author(s):

Pasquale E. Rummo ◽

Reece Lyerly ◽

Jennifer Rose ◽

Yelena Malyuta ◽

Eliza Dexter Cohen ◽

...

Keyword(s):

Low Income ◽

Financial Incentives ◽

Fixed Effects ◽

Fruits And Vegetables ◽

Disease Risk ◽

Farmers Markets ◽

Fruit And Vegetable ◽

Assistance Program ◽

The Difference ◽

The Impact

Abstract Background Offering financial incentives promotes increases in fruit and vegetable purchases in farmers’ markets and supermarkets. Yet, little is understood about whether food-insecure adults purchase more fruits and vegetables as a result of receiving financial incentives in mobile produce market settings. Methods In 2018–2019, Food on the Move provided a 50% discount to customers using Supplemental Nutrition Assistance Program (SNAP) benefits to purchase fruit and vegetables from 16 market locations in Rhode Island (n = 412 market occasions). We used mixed multivariable linear regression to estimate the difference in total dollar sales per transaction per month between SNAP transactions and non-SNAP transactions. We also estimated the difference in out-of-pocket dollar sales per transaction per month between SNAP and non-SNAP transactions, less the 50% discount. This reflects the actual amount spent on fresh fruits and vegetables purchased per visit. In both models, we controlled for the number of market sites per month, with fixed effects for quarter and year. We estimated random intercept variance for date of transaction and market site to adjust for clustering. Results In 2018–2019, the majority of market transactions (total n = 13,165) were SNAP transactions [n = 7.988 (63.0%)]. On average, customers spent $17.38 (SD = 16.69) on fruits and vegetables per transaction per month. However, customers using SNAP benefits spent significantly more on FVs per transaction per month [$22.01 (SD = 17.97)] compared to those who did not use SNAP benefits [9.81 (SD = 10.68)] (β = $10.88; 95% CI: 10.18, 11.58). Similarly, out-of-pocket dollar sales per SNAP transaction per month (i.e., less the 50% discount) were significantly higher [$11.42 (SD = 9.44)] relative to non-SNAP transactions [$9.40 (SD = 9.33)] (β = $1.85; 95% CI: 1.44, 2.27). Conclusions Financial incentives contributed to higher fruit and vegetable purchases among low-income customers who shop at mobile produce markets by making produce more affordable. Higher spending on fruits and vegetables may promote healthy diet behaviors and reduce chronic disease risk among food-insecure adults.

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Gender difference in age at onset of schizophrenia: a meta-analysis

Psychological Medicine ◽

10.1017/s003329171200089x ◽

2012 ◽

Vol 43 (1) ◽

pp. 155-167 ◽

Cited By ~ 79

Author(s):

S. V. Eranti ◽

J. H. MacCabe ◽

H. Bundy ◽

R. M. Murray

Keyword(s):

Developing Countries ◽

Gender Difference ◽

Study Design ◽

Age Of Onset ◽

Meta Analysis ◽

Age At Onset ◽

International Classification Of Diseases ◽

Classification Of Diseases ◽

The Difference ◽

The Impact

BackgroundMost studies reporting the gender difference in age at onset of schizophrenia show an earlier onset in males, but vary considerably in their estimates of the difference. This may be due to variations in study design, setting and diagnostic criteria. In particular, several studies conducted in developing countries have found no difference or a reversed effect whereby females have an earlier onset. The aim of the study was to investigate gender differences in age of onset, and the impact of study design and setting on estimates thereof.MethodStudy methods were a systematic literature search, meta-analysis and meta-regression.ResultsA total of 46 studies with 29218 males and 19402 females fulfilled the inclusion criteria and were entered into a meta-analysis. A random-effects model gave a pooled estimate of the gender difference of 1.07 years (95% confidence interval 0.21–1.93) for age at first admission of schizophrenia, with males having earlier onset. The gender difference in age at onset was not significantly different between developed and developing countries. Studies using Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria showed a significantly greater gender difference in age at onset than studies using International Classification of Diseases (ICD) criteria, the latter showing no difference.ConclusionsThe gender difference in age of onset in schizophrenia is smaller than previously thought, and appears absent in studies using ICD. There is no evidence that the gender difference differs between developed and developing countries.

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Evaluating the Impact of Financial Incentives on SNAP Transactions Shopping at Mobile Produce Markets

10.21203/rs.3.rs-54032/v1 ◽

2020 ◽

Author(s):

Pasquale Rummo ◽

Reece Lyerly ◽

Jennifer Rose ◽

Yelena Malyuta ◽

Eliza Dexter Cohen ◽

...

Keyword(s):

Low Income ◽

Financial Incentives ◽

Fixed Effects ◽

Fruits And Vegetables ◽

Disease Risk ◽

Farmers Markets ◽

Fruit And Vegetable ◽

Assistance Program ◽

The Difference ◽

The Impact

Abstract Background. Offering financial incentives promotes increases in fruit and vegetable purchases in farmers’ markets and supermarkets. Yet, little is understood about whether food-insecure adults purchase more fruits and vegetables as a result of receiving financial incentives in mobile produce market settings.Methods. In 2018-2019, Food on the Move provided a 50% discount to customers using Supplemental Nutrition Assistance Program (SNAP) benefits to purchase fruit and vegetables from 16 market locations in Rhode Island (n=412 market occasions). We used mixed multivariable linear regression to estimate the difference in total dollar sales per transaction per month between SNAP customers and non-SNAP customers. We also estimated the difference in out-of-pocket dollar sales per transaction per month between SNAP and non-SNAP customers, less the 50% discount. This reflects the actual amount spent on fresh fruits and vegetables purchased per visit. In both models, we controlled for the number of market sites per month, with fixed effects for quarter and year.Results. In 2018-2019, the majority of market transactions (n=13,165) were SNAP transactions [n=8,293 (66.0%)]. On average, customers spent $17.32 (SD=16.61) on fruits and vegetables per transaction per month. However, SNAP customers spent significantly more on FVs per transaction per month [$21.68 (SD=17.87)] compared to non-SNAP customers [$9.89 (SD=10.71)] (β=$10.54; 95% CI: 9.85, 11.23). Similarly, out-of-pocket dollar sales per transaction per month (i.e., less the 50% discount) were significantly higher among SNAP customers [$11.47 (SD=9.44)] relative to non-SNAP customers [$9.48 (SD=9.36)] (β=$1.86; 95% CI: 1.44, 2.27).Conclusions. Financial incentives contributed to higher fruit and vegetable purchases among low-income customers who shop at mobile produce markets compared to non-eligible customers. Higher spending on fruits and vegetables may promote healthy diet behaviors and reduce chronic disease risk among food-insecure adults.

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Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

Genes ◽

10.3390/genes11070799 ◽

2020 ◽

Vol 11 (7) ◽

pp. 799

Author(s):

Veronika C. Stark ◽

Flemming Hensen ◽

Kerstin Kutsche ◽

Fanny Kortüm ◽

Jakob Olfe ◽

...

Keyword(s):

Age Of Onset ◽

Splice Variants ◽

Aortic Dilatation ◽

Phenotype Correlation ◽

Ectopia Lentis ◽

Missense Variants ◽

Genotype Phenotype Correlation ◽

The Impact ◽

Pulmonary Artery Dilatation

Currently, no reliable genotype–phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of FBN1 variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating a cysteine (cys-missense) and alterations not affecting cysteine. We categorized 105 FBN1-positive pediatric patients. Patients with cys-missense more frequently developed aortic dilatation (p = 0.03) requiring medication (p = 0.003), tricuspid valve prolapse (p = 0.03), and earlier onset of myopia (p = 0.02) than those with other missense variants. Missense variants correlated with a higher prevalence of ectopia lentis (p = 0.002) and earlier onset of pulmonary artery dilatation (p = 0.03) than nonsense/frameshift, and dural ectasia was more common in the latter (p = 0.005). Pectus excavatum (p = 0.007) appeared more often in patients with splice compared with missense/in-frame variants, while hernia (p = 0.04) appeared earlier in the latter. Findings on genotype–phenotype correlations in Marfan-affected children can improve interdisciplinary therapy. In patients with cys-missense variants, early medical treatment of aortic dilatation seems reasonable and early regular ophthalmologic follow-up essential. Patients with nonsense/frameshift and splice variants require early involvement of orthopedic specialists to support the growing child.

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Evaluation of the impact of public investment programs on social and economic performance of territories

Voprosy Ekonomiki ◽

10.32609/0042-8736-2019-1-109-123 ◽

2019 ◽

pp. 109-123

Author(s):

I. E. Limonov ◽

M. V. Nesena

Keyword(s):

Bayesian Modeling ◽

Positive Impact ◽

Public Investment ◽

Difference In Differences ◽

The Public ◽

Export Activity ◽

Regional Investment ◽

The Difference ◽

The Impact ◽

Development Institution

The purpose of this study is to evaluate the impact of public investment programs on the socio-economic development of territories. As a case, the federal target programs for the development of regions and investment programs of the financial development institution — Vnesheconombank, designed to solve the problems of regional development are considered. The impact of the public interventions were evaluated by the “difference in differences” method using Bayesian modeling. The results of the evaluation suggest the positive impact of federal target programs on the total factor productivity of regions and on innovation; and that regional investment programs of Vnesheconombank are improving the export activity. All of the investments considered are likely to have contributed to the reduction of unemployment, but their implementation has been accompanied by an increase in social inequality.

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The Use of Multimedia and its Impact on Bangladeshi EFL Learners at Tertiary Level

International Journal of Language Education ◽

10.26858/ijole.v4i2.12150 ◽

2020 ◽

Vol 4 (2) ◽

pp. 150

Author(s):

Farzana Sharmin Pamela Islam

Keyword(s):

Language Learning ◽

Academic Writing ◽

Teaching And Learning ◽

English Language ◽

Capital City ◽

Tertiary Level ◽

Language Classroom ◽

The Difference ◽

The Government ◽

The Impact

As 21st century is the era of modern technologies with different aspects, it offers us to make the best use of them. After tape recorder and overhead projector (OHP), multimedia has become an important part of language classroom facilities for its unique and effective application in delivering and learning lesson. Although in many parts of Bangladesh, a South Asian developing country, where English enjoys the status of a foreign language, the use of multimedia in teaching and learning is viewed as a matter of luxury. However, nowadays the usefulness and the necessity of it are well recognized by the academics as well as the government. The study aims to focus on the difference between a traditional classroom void of multimedia and multimedia equipped classrooms at university level by explaining how multimedia support the students with enhanced opportunity to interact with diverse texts that give them more in-depth comprehension of the subject. It also focuses on audio-visual advantage of multimedia on the students’ English language learning. The study has followed a qualitative method to get an in-depth understanding of the impact of using multimedia in an English language classroom at tertiary level. For this purpose, the data have been collected from two different sources. Firstly, from students’ written response to an open ended question as to their comparative experience of learning lessons with and without multimedia facilities; and secondly, through observation of English language classes at a private university of Dhaka, the capital city of Bangladesh. The discussion of the study is limited to the use of multimedia in English language classroom using cartoons, images and music with a view to enhance students’ skills in academic writing, critical analysis of image and critical appreciation of music. For this purpose, cartoons in English language, images from Google and music from You Tube have got focused discussion in this paper.

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Case study: Prediction and field tests of railway noise and effects of a low-height noise barrier

Noise Control Engineering Journal ◽

10.3397/1/376826 ◽

2020 ◽

Vol 68 (4) ◽

pp. 303-314

Author(s):

Yuna Park ◽

Hyo-In Koh ◽

University of Science and Technology, Transpo ◽

...

Keyword(s):

High Speed ◽

Field Tests ◽

Residential Areas ◽

Railway Systems ◽

Railway Noise ◽

Sound Levels ◽

Noise Barrier ◽

The Difference ◽

Reduction Effect ◽

The Impact

Railway noise is calculated to predict the impact of new or reconstructed railway tracks on nearby residential areas. The results are used to prepare adequate counter- measures, and the calculation results are directly related to the cost of the action plans. The calculated values were used to produce noise maps for each area of inter- est. The Schall 03 2012 is one of the most frequently used methods for the production of noise maps. The latest version was released in 2012 and uses various input para- meters associated with the latest rail vehicles and track systems in Germany. This version has not been sufficiently used in South Korea, and there is a lack of standard guidelines and a precise manual for Korean railway systems. Thus, it is not clear what input parameters will match specific local cases. This study investigates the modeling procedure for Korean railway systems and the differences between calcu- lated railway sound levels and measured values obtained using the Schall 03 2012 model. Depending on the location of sound receivers, the difference between the cal- culated and measured values was within approximately 4 dB for various train types. In the case of high-speed trains, the value was approximately 7 dB. A noise-reducing measure was also modeled. The noise reduction effect of a low-height noise barrier system was predicted and evaluated for operating railway sites within the frame- work of a national research project in Korea. The comparison of calculated and measured values showed differences within 2.5 dB.

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Soil Moisture Dynamics in Response to Precipitation and Thinning in a Semi-Dry Forest in Northern Mexico

Water ◽

10.3390/w13010105 ◽

2021 ◽

Vol 13 (1) ◽

pp. 105

Author(s):

Argelia E. Rascón-Ramos ◽

Martín Martínez-Salvador ◽

Gabriel Sosa-Pérez ◽

Federico Villarreal-Guerrero ◽

Alfredo Pinedo-Alvarez ◽

...

Keyword(s):

Soil Moisture ◽

Forest Management ◽

Water Availability ◽

Dry Forest ◽

Rainfall Events ◽

Rainfall Characteristics ◽

Northern Mexico ◽

The Difference ◽

The Impact ◽

Moisture Dynamics

Understanding soil moisture behavior in semi-dry forests is essential for evaluating the impact of forest management on water availability. The objective of the study was to analyze soil moisture based in storm observations in three micro-catchments (0.19, 0.20, and 0.27 ha) with similar tree densities, and subject to different thinning intensities in a semi-dry forest in Chihuahua, Mexico. Vegetation, soil characteristics, precipitation, and volumetric water content were measured before thinning (2018), and after 0%, 40%, and 80% thinning for each micro-catchment (2019). Soil moisture was low and relatively similar among the three micro-catchments in 2018 (mean = 8.5%), and only large rainfall events (>30 mm) increased soil moisture significantly (29–52%). After thinning, soil moisture was higher and significantly different among the micro-catchments only during small rainfall events (<10 mm), while a difference was not noted during large events. The difference before–after during small rainfall events was not significant for the control (0% thinning); whereas 40% and 80% thinning increased soil moisture significantly by 40% and 53%, respectively. Knowledge of the response of soil moisture as a result of thinning and rainfall characteristics has important implications, especially for evaluating the impact of forest management on water availability.

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216. Are Automatic Antimicrobial Stop Orders an Effective Stewardship Tool for Urinary Tract and Intra-Abdominal Infections?

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa439.260 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S110-S110

Author(s):

Christina Maguire ◽

Dusten T Rose ◽

Theresa Jaso

Keyword(s):

Urinary Tract ◽

Antimicrobial Therapy ◽

Source Control ◽

Clostridioides Difficile ◽

Days Of Therapy ◽

Before And After ◽

The Difference ◽

Tract Infections ◽

Length Of Therapy ◽

The Impact

Abstract Background Automatic antimicrobial stop orders (ASOs) are a stewardship initiative used to decrease days of therapy, prevent resistance, and reduce drug costs. Limited evidence outside of the perioperative setting exists on the effects of ASOs on broad spectrum antimicrobial use, discharge prescription duration, and effects of missed doses. This study aims to evaluate the impact of an ASO policy across a health system of adult academic and community hospitals for treatment of intra-abdominal (IAI) and urinary tract infections (UTI). ASO Outcome Definitions ASO Outcomes Methods This multicenter retrospective cohort study compared patients with IAI and UTI treated before and after implementation of an ASO. Patients over the age of 18 with a diagnosis of UTI or IAI and 48 hours of intravenous (IV) antimicrobial administration were included. Patients unable to achieve IAI source control within 48 hours or those with a concomitant infection were excluded. The primary outcome was the difference in sum length of antimicrobial therapy (LOT). Secondary endpoints include length and days of antimicrobial therapy (DOT) at multiple timepoints, all cause in hospital mortality and readmission, and adverse events such as rates of Clostridioides difficile infection. Outcomes were also evaluated by type of infection, hospital site, and presence of infectious diseases (ID) pharmacist on site. Results This study included 119 patients in the pre-ASO group and 121 patients in the post-ASO group. ASO shortened sum length of therapy (LOT) (12 days vs 11 days respectively; p=0.0364) and sum DOT (15 days vs 12 days respectively; p=0.022). This finding appears to be driven by a decrease in outpatient LOT (p=0.0017) and outpatient DOT (p=0.0034). Conversely, ASO extended empiric IV LOT (p=0.005). All other secondary outcomes were not significant. Ten patients missed doses of antimicrobials due to ASO. Subgroup analyses suggested that one hospital may have influenced outcomes and reduction in LOT was observed primarily in sites without an ID pharmacist on site (p=0.018). Conclusion While implementation of ASO decreases sum length of inpatient and outpatient therapy, it may not influence inpatient length of therapy alone. Moreover, ASOs prolong use of empiric intravenous therapy. Hospitals without an ID pharmacist may benefit most from ASO protocols. Disclosures All Authors: No reported disclosures

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Arterial Stiffness Assessed by Cardio-Ankle Vascular Index in Patients With Abdominal Aortic Aneurysm and Its Alterations After Treatment

Vascular and Endovascular Surgery ◽

10.1177/15385744211023281 ◽

2021 ◽

pp. 153857442110232

Author(s):

Spyridon N. Mylonas ◽

Konstantinos G. Moulakakis ◽

Nikolaos Kadoglou ◽

Constantinos Antonopoulos ◽

Thomas E. Kotsis ◽

...

Keyword(s):

Arterial Stiffness ◽

Surgical Repair ◽

Open Repair ◽

Abdominal Aortic ◽

Gender And Age ◽

Baseline Values ◽

The Difference ◽

The Impact ◽

Repair Group

Purpose: The aim of the present study was to investigate a potential difference on the arterial stiffness among aneurysm patients and non-aneurysm controls, as well as to explore potential changes between patients treated either with endovascular or open repair. Materials and Methods: A 110 patients with an infrarenal AAA were prospectively enrolled in this study. Fifty-six patients received an EVAR, whereas 54 patients received an open surgical repair. Moreover, 103 gender and age-matched subjects without AAA served as controls. The cardio-ankle vascular index (CAVI) was applied for measurement of the arterial stiffness. Results: CAVI values were statistically higher in the AAA patients when compared with control subjects. Although at 48 hours postoperatively the CAVI values were increased in both groups when compared to baseline values, the difference in CAVI had a tendency to be higher in the open group compared to the endovascular group. At 6 months of follow up the CAVI values returned to the baseline for the patients of the open repair group. However, in the endovascular group CAVI values remained higher when compared with the baseline values. Conclusion: Patients with AAAs demonstrated a higher value of CAVI compared to healthy controls. A significant increase of arterial stiffness in both groups during the immediate postoperative period was documented. The increase in arterial stiffness remained significant at 6 months in EVAR patients. Further studies are needed to elucidate the impact of a decreased aortic compliance after stentgraft implantation on the cardiac function of patients with AAA.

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