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Retrospective study of immediate hypersensitivity (IHS) reactions to platinum salts i...
T. ADAM
Anne-Claire Bursztejn

T. ADAM

and 2 more

May 11, 2022
09 MAY 2022
Use of polysaccharide hemostatic agent (HaemoCerTM) in breast cancer surgery to reduc...
Veronica Falcone
Pavla Krotka

Veronica Falcone

and 7 more

May 11, 2022
Objective: To evaluate whether the application of polysaccharide hemostatic agent during breast conservative surgery affects the perioperative period. Design: Randomized, masked, single-center study Setting: Breast-care unit, at the Medical University of Vienna Population: Pre- and postmenopausal women affected by intraductal or invasive breast cancer, undergoing breast conservative surgery. Methods: Women were randomly assigned polysaccharide hemostatic agent or not, intraoperatively. Main outcome measures: Primary outcome was the total volume of postoperative drained fluid from the surgical site. Secondary outcomes were number of days until drain removal, rate of immediate postoperative surgical site infection, and total volume of postoperative drained fluid from the surgical site. Results: Patients in the intervention group had significantly higher drainage output volumes compared to the control group 85ml (IQR 46.25-110) vs. 50ml (IQR 30-75), respectively; (p=0.003). A univariable linear regression analyses, showed a significant association between the surgical specimen and the primary outcome (p<0.001). After multivariable analysis, the use of absorbable polysaccharide hemostatic product was no longer significantly associated with a higher drainage output and only the size of the surgical specimen remained a significant predictor. The number of days until drainage removal and the postoperative seroma formation were higher in the intervention group, (p=0.004) and (p=0.003), respectively. Conclusion:In our study, intraoperative application of polysaccharide hemostatic agent during breast-conserving surgery did not decrease postoperative fluid production.Only the size of the surgical specimen was significantly associated with postoperative drainage volume. Tweetable abstract:Intraoperative polysaccharide hemostatic does not reduce the volume of postoperative fluid drained after breast conservative surgery
Periodic solutions of a singular Minkowski-curvature equation
Zaitao Liang
Shengjun Li

Zaitao Liang

and 1 more

May 11, 2022
In this paper, we study the existence of positive periodic solutions of a singular Minkowski-curvature equation. The proof is based on the Mawhin's continuation theorem. Moreover, an example and the corresponding numerical simulations are given to illustrate our theoretical analysis. Some results in the literature are generalized and improved.
A high-order predictor-corrector method for initial value problems with fractional de...
SAMI ALJHANI
Mohd Salmi Md Noorani

SAMI ALJHANI

and 3 more

May 11, 2022
In this paper, we propose a numerical scheme of the predictor-corrector type for solving nonlinear fractional initial value problems, the chosen fractional derivative is called the Atangana-Baleanu derivative defined in Caputo sense (ABC). This proposed method is based on Lagrangian quadratic polynomials to approximate the nonlinearity implied in the Volterra integral which is obtained by reducing the given fractional differential equation via the properties of the ABC-fractional derivative. Through this technique, we get corrector formula with high accuracy which is implicit as well as predictor formula which is explicit and has the same precision order as the corrective formula. On the other hand, the so-called memory term is computed only once for both prediction and correction phases, which indicates the low cost of the proposed method. Also, the error bound of the proposed numerical scheme is offered. Furthermore, numerical experiments are presented in order to assess the accuracy of the new method on two differential equations. Moreover, a case study is considered where the proposed predictor-corrector scheme is used to obtained approximate solutions of ABC-fractional generalized SI (susceptible-infectious) epidemic model for the purpose of analyzing dynamics of the suggested system as well as demonstrating the effectiveness of the new method to solve systems dealing with real-world problems.
Does iron chelation by eumelanin contribute to the ethnic link with maternal mortalit...
Ruth Edge
Patrick Riley

Ruth Edge

and 2 more

May 11, 2022
A document by Ruth Edge, written on Authorea.
Study on fertility status of patients with uterine fibroids for fertility needs after...
xiaoliang lin
Jing Zhang

xiaoliang lin

and 9 more

May 11, 2022
Objective: To study the pregnancy and its prognosis and explore influence factors on pregnancy after Uterine fibroids (UFs) treatment by microwave ablation (MWA). Design:A prospective observational study. Setting: Department of Interventional Ultrasound in a single centre in China. Population: Patient of UFs with fertility desiring. Methods: Each patient with fertility desiring underwent MWA for UFs from August 2010 to September 2020 was interviewed regularly. Main Outcome Measures: Pregnancy situation and outcomes, multiple factors affecting pregnancy. Results:81 women were enrolled in the study. Among them, there were 45 patients with 50 pregnancies. The pregnancy rate was 55.56% (45/81), and the median conception time was 18 months (1–60 months). Natural and artificially assisted pregnancy rates were 48.15% (39/81) and 7.41% (6/81), respectively. The number of pregnancies that ended in spontaneous and induced abortion were 11 and 9, respectively. And 25 pregnancies resulted in deliveries, with 1 of patients having two deliveries. Cesarean sections were performed by 76% (19/25) of the gravida, and 24% (6/25) opted for a vaginal delivery. All the 25 newborns survived and were in good health at the end of the follow-up. 1 case had placental abruptions at 26 weeks gestation, while the others had no serious complications during the perinatal period. For UFs patients with fertility requirements, the patient’s age, history of spontaneous abortion and fibroid types are relevant factors affecting pregnancy after MWA. Conclusions: MWA could be considered a promising clinical treatment for women with UFs and plans for future pregnancy.
ON DEGREE BASED TOPOLOGICAL INDICES OF SELF-ASSEMBLED TETRAPHENYLETHYLENE AND TERPYRI...
P NOAH ANTONY DANIEL RENAI
Roy Santiago

P NOAH ANTONY RENAI

and 1 more

May 11, 2022
A technique is described to compute topological indices for supramolucular rosettes of tetraphenylethylene (TPE) and terpyridine (TPY) ligands with its applications on physicochemical and biological properties. This technique, we have applied to a self assembled TPE and TPY supramolucular graphs which is obtained in the form of rosette cycles. Also these type of rosettes graph finds significant applications in electrical sensors, light emitting diodes, bioimaging and photoelectric devices etc. As regarded to the next generation sensing applications with a typical induced aggregative emission behaviour, tetraphenylethylene can be utilised in constructing fluorescent probes. For this supramolucular systems we have done a work by computing some topological indices such as the variants of Zagreb index, Randić index, Sum Connectivity index, ABC index and Harmonic index.
The synergy of spiral agitation and nano-promoters significantly enhances hydrate for...
Xiaolai Zhang
Xiaoyun Shi

Xiaolai Zhang

and 4 more

May 11, 2022
Sluggish hydrate kinetics and low methane storage capacity give rise to the limitation of the application of hydrate-based solidified natural gas (SNG) technology. Here, we prepared two nano-promoters of -SO3-@PSNS and -COO-@PSNS, with which, methane hydrate formation in a spiral-agitated reactor under mild conditions was evaluated. Excitingly, spiral agitation enhances hydrate nucleation and initial growth kinetics, while the nano-promoters improve hydrate later growth kinetics, and the synergy of them results in extraordinary hydrate formation kinetic under mild conditions. Large methane storage capacities of 147.28 V/V and 141.33 V/V were obtained in the systems of -SO3-@PSNS and -COO-@PSNS separately under the condition of 3.8 MPa, 275.15 K and 30 rpm, which increase by 85.07% and 77.59% comparing to that in pure water, respectively. The synergy performs better than that of spiral agitation and amino acids, and this may promote the application of SNG technology a step forward.
Trypanosoma cruzi Arequipa: a tool for Chagas disease drug discovery
Rubén Martín-Escolano
María José Rosales

Rubén Martín-Escolano

and 2 more

May 10, 2022
Trypanosoma cruzi, the causative agent of Chagas disease, is a genuine parasite with a tremendous genetic diversity and a complex life cycle. Scientists have studied this disease for more than 100 years, and Chagas disease drug discovery has been a mainstay due to the absence of an effective treatment. Technical advances in several areas have contributed to a better understanding of the complex biology and life cycle of this parasite with the aim of designing the ideal profile of both drug and therapeutic options to treat CD. Here, we present T. cruzi Arequipa strain (MHOM/Pe/2011/Arequipa) as an interesting tool for CD drug discovery. We have characterized acute-phase parasitaemia and chronic-phase tropism in BALB/c mice, and we have determined the in vitro and in vivo benznidazole resistance profile of the different morphological forms of this strain. The tropism of this strain makes it an interesting tool for the screening of new compounds with a potential anti-Chagas profile for the treatment of this disease.
New insight into the molecular determinants of function, diversity and evolution of s...
Congrui Wang
Yi Liu

Congrui Wang

and 5 more

May 10, 2022
Sweet taste is a primary sensation for the preference and adaption of primates to diet, which is crucial for their survival and fitness. It is clear now that the sweet perception is mediated by a G protein-coupled receptor (GPCR)-sweet taste receptor T1R2/T1R3, and many behavioral or physiological experiments have revealed the diverse sweet taste preferences and sensitivities in primates. However, the structure-function relationship of T1R2s/T1R3s in primates, especially the molecular basis for their species-specific sweet taste, has not be well understood until now. In this study, we performed a comprehensive sequence, structural and functional analysis of sweet taste receptors in primates to elucidate the molecular determinants mediating their species-dependent sweet taste recognition. Our results indicate obviously distinct taxonomic distribution and classification, as well as significant characteristics (interaction, coevolution and epistasis) for several subsets of function-related potential residues, which could partly account for the previously reported behavioral and physiological results of taste perception in primates. Moreover, the prosimians Lemuriformes species, which were reported to have no sensitivity to aspartame, could be proposed to be aspartame tasters based on the present analysis. Collectively, our study provides new insights and promotes a better understanding for the diversity, function and evolution of sweet taste receptors in primates.
The association between epicardial adipose tissue thickness and left atrial phasic fu...
You Yang
Biaohu Liu

You Yang

and 6 more

May 10, 2022
Abstract Purpose: The purpose of our study was to explore the relationship between EAT thickness and left atrial phasic function in patient with non-valvular atrial fibrillation (NVAF). Methods: 100 NVAF patients were enrolled, including 50 patients with paroxysmal AF and 50 patients with persistent AF. Another 50 patients without AF in sinus rhythm were selected as the control group. EAT thickness in front of the right ventricular free wall was measured using transthoracic echocardiography(TTE) at end-systole, while left atrial phasic function parameters were measured by Real-time three-dimensional echocardiography(RT-3DE) and two-dimensional speckle tacking imaging(2D-STI), including left atrial total emptying fraction(LATEF), left atrial active emptying fraction(LAAEF), left atrial passive emptying fraction(LAPEF), left atrial reservoir strain(LASr), left atrial contraction strain(LASct) and left atrial conduit strain(LAScd). Subsequently, we compared EAT thickness and left atrial phasic function parameters in each group, and analyzed the relationship between EAT thickness and left atrial phasic function parameters. Results: Compared with control group, patients with paroxysmal AF and persistent AF groups had sequentially greater EAT thickness and left atrial diameter (LAD), but sequentially lower left atrial phasic function parameters (LATEF, LAAEF, LAPEF, LASr, LASct, LAScd) (all p<0. 001). By Pearson and Spearman Correlation Coefficient, EAT thickness was significantly positively correlated with LAD and negatively correlated with left atrial phasic function parameters (all p<0. 001). Conclusions: EAT thickness in front of the ventricular free wall measured by TTE was significantly correlated with left atrial phasic function in patients with NVAF, which could effectively reflect the trend of left atrial function changes, thus providing some reference for clinical practice and early intervention of left atrial remodeling.
Metastatic squamous carcinoma of cervix with tricuspid valve involvement
Yong Lei

Yong Lei

May 10, 2022
Background: Cervical squamous cell carcinoma is one of the most common malignant tumors in the clinic. It can metastasize to the lung, bone, and other organs. However, postoperative recurrence and metastasis to the tricuspid valve are infrequent.   Case presentation: A 57-year-old female patient, which had an operation history of squamous carcinoma of the cervix(SCC) one year ago, was admitted to the hospital due to the cervical squamous cell carcinoma recurred and metastasized to the tricuspid anterior and septum’ ventricular surface and the chordae tendineae. The patient underwent surgery in our hospital.Then the positron emission tomography-computed tomography of postoperation revealed cervical squamous cell carcinoma metastasis. Histopathology revealed the squamous carcinoma of the cervix.Moreover, the cardiac tumor reappeared after four postoperation months. The postoperative patients did not receive regular chemotherapy. The short-term effect on the patients was not ideal.  Conclusion: To achieve better treatment results, the multi-mode treatment strategy of surgery, medical treatment, and advanced diagnosis has a significant impact on the survival of these patients.
Evaluation of the SIMULRESP: a simulation software of child and teenager cardiorespir...
David Brossier
Olivier Flechelles

David Brossier

and 8 more

May 10, 2022
BACKGROUND: Mathematical models based on the physiology when programmed as a software can be used to teach cardiorespiratory physiology and to forecast the effect of various ventilatory support strategies. We developed a cardiorespiratory simulator for children called “SimulResp”. The purpose of this study was to evaluate the quality of SimulResp. METHODS: SimulResp quality was evaluated on accuracy, robustness, repeatability and reproducibility. Blood gas values (pH, PaCO 2, PaO 2 and SaO 2) were simulated for several subjects with different characteristics and in different situations and compared to expected values available as reference. The correlation between reference and simulated data was evaluated by the coefficient of determination and Intraclass correlation coefficient. The agreement was evaluated with the Bland & Altman analysis. RESULTS: SimulResp produced healthy child physiological values within normal range (pH 7.40 +/- 0.5; PaCO2 40 +/- 5 mmHg, PaO2 90 +/- 10 mmHg; SaO2 97% +/- 3%) starting from a weight of 25 to 35 kg, regardless of ventilator support. SimulResp failed to simulate accurate values for subjects under 25 kg and/or affected with pulmonary disease and mechanically ventilated. Based on the repeatability was considered as excellent and the reproducibility as mild to good. SimulResp’s prediction remains stable within time. CONCLUSIONS: The cardiorespiratory simulator SimulResp requires further development before future integration into a clinical decision support system.
Guidelines for the management of atopic dermatitis in children: A systematic review o...
Qi Wang
Lamei Liu

Qi Wang

and 3 more

May 10, 2022
Background: Numerous guidelines have been published for atopic dermatitis management in children in recent years. To date, the quality of the newest guidelines has not been appraised. Objective: To identify and evaluate guidelines for the management of atopic dermatitis in children. Design: A review of the guidelines for the management of atopic dermatitis in children and quality appraisal with AGREE II was conducted. Methods: We reviewed literature retrieved from PubMed, Web of Science, Ovid, ScienceDirect, Embase, China National Knowledge Infrastructure, WanFang Data, and guidelines websites. Search period from 1 January 2016 to 31 December 2021. The following keywords were used for searching: ‘atopic dermatitis’, ‘atopic eczema’, ‘eczema’, ‘guideline’ and ‘consensus’. The quality of the guidelines was assessed by two assessors using the Appraisal of Guidelines for Research & Evaluation II (AGREE II) instrument independently, and domain scores were considered of sufficient quality when > 60%. Guidelines recommendations were reviewed. Results: Nineteen guidelines were included in the study. Three guidelines were graded A level that recommended for use in practice. Eleven guidelines were graded B level that recommended for use in revision. The remaining five guidelines were rated C level not as recommended. The average score of six domains of AGREE II was 64.76%, 48.53%, 42.35%, 73.83%, 32.23% and 70.17%, respectively. The consistency test showed that ICC ranged from 0.497 (95%CI: 0.105, 0.705) to 0.970 (95%CI: 0.93, 0.987) in the results of two assessors’ tests of the guidelines. Conclusions: Most guidelines were recommended for use with revision in the study. No major changes in primary management of atopic dermatitis in children compared to previous evidence. New biologic agents and complementary alternative medicine were increasingly available, but evidence for the treatment of atopic dermatitis in children was still limited.
Allee Effects and Coexistence
Emma Walker
Benjamin Gilbert

Emma Walker

and 1 more

May 10, 2022
Allee effects are common to diverse taxa but their consequences for coexistence are poorly understood. Recent studies suggest they cause priority effects through ‘inverse’, or positive, density dependence when a population is at low density, but mathematical theory suggests more outcomes are possible. We develop a simple and generalizable competition model that incorporates an Allee effect, with the Allee effect characterized by its low-density strength and dissipation rate. By incorporating Allee effects into modern coexistence theory, we show how Allee effects alter both fitness differences and stabilizing differences. We then determine when Allee effects promote or limit diversity, and when modern coexistence theory fails to predict coexistence outcomes. Our model offers an intuitive extension of modern coexistence theory while identifying one of its limits for predicting diversity, and promises to guide empirical research on how Allee effects structure ecological diversity.
An enhanced electron transport chain improved astaxanthin production in Phaffia rhodo...
Carlos H. Luna-Flores
Alexander  Wang

Carlos H. Luna-Flores

and 3 more

May 10, 2022
Astaxanthin (AX) is a carotenoid pigment with antioxidant properties. AX is used widely in the animal feed industry as a supplement. Wild-type strains of Phaffia rhodozyma naturally produce low AX yields, but we increased AX yields 50-fold in previous research using random mutagenesis of P. rhodozyma CBS6938 and fermentation optimisation. Genome sequencing linked phenotype and genome changes of the increased AX production but relevant metabolic changes were not resolved. In this study, the wild-type and the superior P. rhodozyma mutant strains were grown in chemically defined media and instrumented fermenters. Differential kinetic, metabolomics, and transcriptomics data were collected. Our results suggest that carotenoid production was mainly associated with cell growth and had a positive regulation of central carbon metabolism metabolites associated with glycolysis, the pentose phosphate pathway, the TCA cycle, and amino acids and fatty acids biosynthesis. In the stationary phase, amino acids associated with the TCA cycle increased, but most of the fatty acids and central carbon metabolism metabolites decreased. TCA cycle metabolites such as succinate, fumarate, and α-ketoglutarate were in abundance during both growth and stationary phases. The overall observed metabolic changes in the central carbon metabolism and abundance of TCA cycle metabolites suggest an improvement in the electron transport chain and the provision of the electrons required for the AX synthesis. Transcriptomic data correlated with the metabolic data and found a positive regulation of genes associated with the electron respiratory chain suggesting this to be the main driver for improved AX production in the mutant strain.
Waveguide integration of a >4.7-THz quantum-cascade laser
Eleanor Nuttall
Yingjun Han

Eleanor Nuttall

and 13 more

May 10, 2022
We have demonstrated waveguide integration of terahertz quantum cascade lasers (THz QCLs) at frequencies above 4.7 THz. A precision micromachining technique, followed by diamond-turning and electroless-plating has been used to manufacture hollow rectangular waveguides with integrated diagonal feedhorns. We show that surface roughness at the 1μm level is achieved, enabling outcoupling of radiation in the 4.75–5.05 THz band, with a divergence angle of 5° along the plane of the QCL substrate.
Real-Time Monitoring of Early Cell Death in Mammalian Cell Culture using Capacitance...
Suyang Wu
Stephanie Ketcham

Suyang Wu

and 5 more

May 10, 2022
Previous work developed a quantitative model using capacitance spectroscopy in an at-line setup to predict the dying cell percentage measured from a flow cytometer. This work aimed to transfer the at-line model to monitor lab-scale bioreactors in real-time, waiving the need for frequent sampling and enabling precise controls. Due to the difference between the at-line and in-line capacitance probes, direct application of the at-line model resulted in poor accuracy and high prediction bias. A new model with a variable range that had similar spectra shape across all probes was first constructed, which improved the prediction accuracy. Moreover, the global calibration method included the variance of different probes and scales into the model, reducing the prediction bias. External parameter orthogonalization also mitigated the interference from feeding, which further improved the model performance. The culture evolution trajectory predicted by the in-line model captured the cell death and alarmed cell death onset earlier than the trypan blue exclusion test. In addition, incorporation of at-line spectra following orthogonal design into the calibration set is more likely to generate robust calibration models than the calibration models constructed using the in-line spectra only. This is advantageous, as at-line spectra collection is easier, faster, and more material-sparing than in-line spectra collection. The root-mean-square error of prediction of the final model was 6.56% (8.42% of the prediction range) with an R2 of 92.4%.
The first documentation of the Nearctic-Paleotropical migratory route of the Arctic W...
Evan Adams
Iain Stenhouse

Evan Adams

and 9 more

May 10, 2022
The Arctic Warbler (Phylloscopus borealis) is a cryptic songbird that uses a Nearctic-Paleotropical migratory strategy. Using geolocators, we provide the first documentation of the migratory routes and wintering locations of two territorial adult male Arctic Warblers from Denali National Park and Preserve, Alaska. After accounting for position estimation uncertainties and biases, we found that both individuals departed their breeding grounds in early September, stopped over in southeastern Russia and China during autumn migration, then wintered in the Philippines and the island of Palau. Our documentation of Arctic Warbler wintering on Palau suggests that additional study is needed to document their wintering range. These results suggest that Arctic Warblers may migrate further overwater than previously thought and provide hitherto unknown information on stopover and wintering locations.
Quantum Computing Using Chaotic Numbers
Usama Thakur

Usama Thakur

May 10, 2022
A document by Usama Thakur, written on Authorea.
Performance evaluation of Google Earth Engine based precipitation datasets under diff...
Sukant Jain
Varun Tiwari

Sukant Jain

and 10 more

May 10, 2022
Satellite-based as well as reanalysis-based datasets are widely available and useful in detecting spatial and temporal variability of rainfall at a finer resolution. These products have been widely used in weather forecasting, hydrological and climate studies. However, the accuracy of these satellite products varies spatially and across different datasets. In this study, the accuracy of five satellite-based precipitation products with different spatial resolutions i.e., CHIRPS, ERA5, TRMM, GPM, and Terra Clim available on Google Earth Engine (GEE) were compared with India Meteorological Department (IMD) grided data in six climate zones in India. The statistics such as RMSE, R 2, MSE, and PBIAS were computed. It was observed that the performance of each product varies in different climatic zones. The GPM was observed to have high accuracy in arid, semi-arid, and tropical wet zones. TRMM showed a good match in tropical wet & dry, tropical wet, and semi-arid zones. Terra Clim and ERA5 showed high accuracy in humid subtropical and montane regions respectively. It was also observed that CHRIPS was found to be least suitable in all the climate zones across India. The findings from the present studies will serve as a guiding document for the researcher to select appropriate datasets for different applications such as drought monitoring, precipitation anomaly, hydrological models, or other related studies in India.
Clinical Outcomes of Pfizer-BioNTech COVID-19 Vaccine on Children and Adolescents: Wh...
Ahmad  Al-Qudimat
Raed  Al-Zoubi

Ahmad Al-Qudimat

and 10 more

May 10, 2022
Background: The BioNTech-Pfizer vaccine is the only vaccine offered to children among all available vaccines. However, limited evidence is available about the clinical outcomes of COVID-19 vaccines, especially among children and adolescents. This review offers a comprehensive and up-to-date overview of the BioNTech-Pfizer vaccine’s current information on children and adolescents. Methods: The review was conducted following the PRISMA guidelines; a comprehensive search was performed in PubMed, Scopus, MEDLINE, and EMBASE databases for research publications COVID-19 published between December 2019 and October 2021. All studies reporting on the outcomes of vaccinating children in their respective institutes were included. Results: A total of 78 vaccinated children and adolescents from 6 studies were included. The majority of symptomatic vaccinated pediatrics were males (71%). The mean age was 15.6 years, and the BMI was 24.1. The most common clinical symptoms were found in chest pain (35%), fever (32%), and myalgia (17%). The most common cardiac symptom in the EKG results was ST elevation, and 35% of vaccinated pediatrics had elevated serum troponin. The hospitalization, including ICU admission, was lower than in unvaccinated groups. Statistically significant associations (P = <0.05) were found in two symptoms (fever and headache) between the vaccinated and non-vaccinated pediatric groups. Conclusions: Although we found better outcomes in the vaccinated group versus the non-vaccinated pediatric group, more studies are still crucial to further understand the specific etiology underlying post-vaccination, particularly myocarditis, psychological impact, and other cardiac clinical symptoms in children and adolescents after receiving the BioNTech-Pfizer vaccine.
Linking evapotranspiration seasonal cycles to the water balance of headwater catchmen...
Alberto M. L. Peixoto Neto
Ian Cartwright

Alberto M. L. Peixoto Neto

and 9 more

May 10, 2022
Land use affects evapotranspiration rates and is a primary driver of the catchment water balance. The water balance of two catchments in southeastern Australia dominated by either grazed pasture or blue gum ( Eucalyptus globulus) plantation was studied, focusing on the patterns of evapotranspiration (ET) throughout the year. Rainfall, streamflow, and groundwater levels measured between 2015-2019 were combined to estimate annual ET using a water balance equation. In the pasture, eddy covariance was used to measure ET from the catchment. Sap flow measurements were used to estimate tree transpiration in May 2017 – May 2018 and Feb 2019 – Feb 2021 in two different plots within the plantation. The tree transpiration rates were added to direct evaporation, estimated as a percentage of annual rainfall, to calculate ET from the plantation catchment. ET in the pasture showed strong seasonal cycles with very low ET rates in summer and ET rates in spring that were larger than the transpiration rates in the plantation, where trees transpired consistently throughout the year. The estimated annual ET from the water balance equation were comparable to ET estimated from other measurements. In the pasture, ET on average accounted for 88% of annual rainfall, while ET in the plantation was on average 93% of rainfall, exceeding it in the years with annual rainfall lower than 500 mm. The difference between the ET rates in the plantation and the pasture were approximately 30 to 50 mm y­ -1. The larger ET rates in the plantation are reflected in a gradual decrease in the groundwater storage. The differences in ET rates were thus enough to cause a decrease in groundwater storage in the plantation, while the groundwater levels in the pasture remained stable.
Functional assays combined with pre-mRNA splicing analysis improve variant classifica...
Mark Nellist
Hannie C.W. Douben

Mark Nellist

and 17 more

May 10, 2022
Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1. NF1 encodes neurofibromin (NF), a GTPase activating protein (GAP) for RAS, that interacts with the SPRED1 product, Sprouty-related protein with an EVH (Ena/Vasp homology) domain 1 (SPRED1). Establishing a clinical and molecular diagnosis of NF1 or LS can be challenging due to the phenotypic diversity, the size and complexity of the NF1 and SPRED1 loci and uncertainty over the effects of variants on pre-mRNA splicing and NF/SPRED1 function. The purpose of this work was to improve NF1 and SPRED1 variant classification. To help establish the pathogenicity of NF1 and SPRED1 variants identified in individuals with NF1 or LS, we employed 4 assays: (i) analysis of patient RNA by RT-PCR; (ii) in vitro exon trap analysis of NF1 pre-mRNA splicing; (iii) in vitro analysis of NF RAS GAP activity; and (iv) in vitro analysis of the NF-SPRED1 interaction. In 69/105 (66%) cases we obtained evidence to support variant pathogenicity according to American College of Medical Genetics guidelines, demonstrating the utility of functional approaches for NF1 and SPRED1 variant classification and NF and LS diagnostics.
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