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GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity...
Suvoshree Ghosh
Katrin Kraus

Suvoshree Ghosh

and 10 more

April 22, 2021
γ-Glutamyl carboxylase (GGCX) catalyses γ-carboxylation of 15 different vitamin K dependent (VKD) proteins. Pathogenic variants in GGCX cause a rare hereditary bleeding disorder called Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1). In addition to bleedings, some VKCFD1 patients develop skin laxity and skeletal dysmorphologies. However, the pathophysiological mechanisms underlying these non-haemorrhagic phenotypes remain elusive. Therefore, we analyzed the effect of 22 GGCX pathogenic variants on γ-carboxylation of six non-haemostatic VKD proteins (UCMA/GRP, MGP, BGLAP, GAS6, PRGP1, TMG4) in a GGCX-/- HEK293T cell line by a functional ELISA. We observed that biallelic deficiency to γ-carboxylate Gla-rich protein lead to the development of skin laxity. Markedly reduced level of γ-carboxylated MGP is crucial but not exclusive for causing facial dysmorphologies. Moreover, we identified the vitamin K hydroquinone binding site in GGCX in an in silico model by docking studies, which was further validated by functional assays. Variants affecting this site result into loss-of-function or severely diminished ability to γ-carboxylate VKD proteins and hence are involved in the most severe phenotypes. This genotype-phenotype analysis will help to develop new treatment options for VKCFD1 patients, where individualized therapy with γ-carboxylated VKD proteins may represent a promising strategy.
Mechanism on Redistribution Synthesis of Dichlorodimethylsilane by AlCl3/ZSM-5(3T)@γ-...
wenyuan xu
Yongbing Cheng

wenyuan xu

and 10 more

April 22, 2021
The redistribution method plays an important role in addressing the issue of organosilicon by-product in the direct synthesis of dichlorodimethylsilane, and the redistribution mechanism is still a topic of debate. The redistribution by ZSM-5(3T)@γ-Al2O3 core-shell catalyst and post-modified AlCl3/ZSM-5(3T)@γ-Al2O3 catalyst was technically performed using the Density Functional Theory (DFT) at the level of B3LYP/6-311++G(3df,2pd). The result shows that No.1 active site of ZSM-5(3T)@γ-Al2O3 core-shell structure has a significant effect on the activity of the catalyst. Indicating that the active center involved in the reaction is H provided by Al-O-H bond, which is an obvious catalytic active center of Bronsted acid. Furthermore, post-modified AlCl3/ZSM-5(3T)@γ-Al2O3 catalyst is in more favor of redistribution reaction comparing with ZSM-5(3T)@γ-Al2O3 core-shell catalyst. It ascribes to the robust Lewis site of aluminum chloride favorable modification.
A population genetics study of Pale-winged Starlings, Onychognathus nabouroup, using...
Naadhirah Munshi
Craig Symes

Naadhirah Munshi

and 6 more

April 22, 2021
Recent research into starling species has revealed the existence of vocal social markers and a link between song temporal structuring and social organisation. The aim of the present study was to develop a genetic tool for understanding the population structuring and behaviour (social/parental transmission) and mating in Pale-winged Starlings (Onychognathus nabouroup), a songbird which is found in arid areas of southern Africa. Using next-generation sequencing, microsatellite markers comprising six dinucleotides, eighteen trinucleotides and twenty-four tetra-nucleotides specific to the Pale-winged Starling were isolated and developed. A total of 77 birds were sampled from the Augrabies Falls Nature Reserve in South Africa (n=53) and the Ai Ais-Richtersveld Transfrontier Park resort in Namibia (n=24), respectively. Fifteen polymorphic microsatellite markers were genotyped. The statistical programme STRUCTURE revealed four different genetic clusters within the two populations. There is low genetic divergence (mean Fst value of 0.01) between the two populations, which is supported by the mean number of effective migrants (22.45) between the populations. ML-Relate data analysis indicated that all individuals sampled from both populations have relatives within and across the two populations with three exceptions in the Augrabies Falls Nature Reserve region. Birds from either population migrate and join the other population maintaining gene flow between the two populations. Each population has a high degree of genetic diversity present between individuals. There is little inbreeding and high allelic richness in both sampled populations, which will allow them to adapt to future environmental changes. The developed microsatellites have inferred information for the success of this species. Social structure, relatedness and behaviour were inferred and regardless of genetic relationships these birds maintain a stable social environment and harbour strong social bonds between same and opposite sex group members as well as mates.
Appraisal of national and international uterine fibroid management guidelines: a syst...
Alison Amoah
Nikhitha Joseph

Alison Amoah

and 3 more

April 22, 2021
Background Guidelines standardise high-quality evidence-based management strategies for clinicians. Uterine fibroids are a highly prevalent condition and may exert significant morbidity. Objectives The purpose of this study was to appraise national and international uterine fibroid guidelines using the validated AGREE-II instrument. Selection Strategy An electronic database search of PubMed and EMBASE from inception to October 2020 for all published English-language uterine fibroid clinical practice guidelines was undertaken. Data Collection and Analysis 939 abstracts were screened for eligibility by two reviewers independently. Three reviewers used the AGREE-II instrument to assess guideline quality in six domains (scope and purpose, stakeholder involvement, rigour of development, clarity of presentation, applicability, and editorial independence). Recommendations were mapped to allow a narrative synthesis regarding areas of consensus and disagreement. Main Results Eight national (AAGL, SOGC 2014, ACOG, ACR, SOGC 2019, CNGOF, ASRM, and SOGC 2015) and one international guideline (RANZOG) were appraised. The highest scoring guideline was RANZOG 2001(score 56.5%). None of the guidelines met the a priori criteria for being high-quality overall (score >= 66%). There were 166 recommendations across guidelines. There were several areas of disagreement and uncertainty. Conclusions There is a need for high-quality fibroid guidelines given heterogeneity across individuals and a large range of treatment modalities available. There are also areas of controversy in the management of fibroids (e.g. Ulipristal acetate, power morcellation) which also should be addressed in any guidelines. Future guidelines should be methodologically robust to allow high-quality decision-making regarding fibroid treatments.
DFT study of structural, electronic, optical, and electrical properties of CuO based...
Adil Es-Smairi
N Fazouan

Adil Es-Smairi

and 5 more

April 22, 2021
The structural, electronic, optical, and electrical properties of CuO were studied using the density functional theory (DFT) based on the Full Potential Linearized Augmented Plane Wave (FP-LAPW) method as implemented in the Wien2k code. The structural parameters are optimized by using the 4D-optimize option and the PBE-sol functional. The electronic and optical properties were analysed adopting Generalized Gradient approximation plus the screened Coulomb interaction (GGA+U) and the modified Becke-Johnson (GGA-TB-mBJ) potential for comparison. The calculated band energies have been used with the Boltzmann transport equation to calculate the thermoelectric properties. It is shown that the gap energy obtained by the (TB-mBJ) approximation potential is 2.02 eV more close to the experimental values comparing to that given by the GGA+U (Eg=1.57 eV). The optical properties reveal a high absorption coefficient in the UV region with an average transmittance of around 65% in the visible range, which covers a high range of light using TB-mBJ exchange potential and an average reflectivity of approximately 18% in visible light. The CuO conductivity is limited by the carrier mobility at low temperature and primarily defined by the carrier concentration at high temperature. These properties make CuO a promising material for solar cell applications as an absorbent layer and antireflection coating.
Physics-Guided Curve Fitting for Potential-Energy Functions of Diatomic Molecules
Karl K. Irikura

Karl Irikura

April 22, 2021
When computing the potential-energy curve of a diatomic molecule for predictive spectroscopy, high-level calculations are usually desired. The best calculations are expensive, so few points are usually available. The points are fitted to a continuous function, such as a polynomial. Ro-vibrational energy levels are then computed using the fitted function, and spectroscopic constants extracted. However, there may be problems with overfitting, with inadequate flexibility of the fitting function, or with dependence of results upon the choice of fitting function. More fundamentally, the fitting function is selected using aesthetics or convenience, instead of physics. Here we suggest using a lower-level, high-resolution ab initio potential as a guide. Instead of fitting the sparse, high-level data directly, the energy differences between the high-level points and the guiding potential are fitted. The results are improved even with an inexpensive guiding potential. This simple strategy involves little additional effort and can be recommended for routine use. It is similar to some interpolation strategies in the literature of polyatomic molecules. When the guiding potential extends beyond the high-level data, extrapolations are also improved.
Comparative Analysis of Rainfall Trends in the Jinghe River Basin During 1959-2014
Xunjian Long
Xuerou Weng

Xunjian Long

and 3 more

April 22, 2021
Trend analysis is widely applied in hydrometeorological research. Considering that Innovative Trend Analysis (ITA) and Innovative Polygonal Trend Analysis (IPTA) can detect small variations on annual and smaller scale, rainfall trends at 14 hydrometeorological stations in the Jinghe River Basin were analyzed by ITA, IPTA and Mann Kendall test (MK). The results showed that the rainfall trends are subsistent from 1959 to 2014. Comparing the results of ITA and MK on annual level, it was determined that trends are consistent, but only two stations passed the 90% significance test through MK, while all stations passed the significance test through ITA. Accordingly, the ITA method proved to be better than MK in detecting small changes in time series. Changes in high and low values, obtained by the ITA method, reflected flood and drought trends in the basin. In addition, IPTA is an improved ITA method that is suitable for a relatively short time span. Through the IPTA method for analyzing the monthly precipitation trends, the results showed that rainfall at 14 stations increased in January, February, March, June and December, and decreased significantly in September. Therefore, the methodology applied in this study can provide detailed recommendations for hydrometeorological research.
Molecular definition of SARS-CoV-2 RBD mutations: receptor affinity versus neutraliza...
Monique Vogel
Gilles Augusto

Monique Vogel

and 6 more

April 21, 2021
Background: Several new variants of SARS-CoV-2 have emerged since fall 2020 which have multiple mutations in the receptor binding domain (RBD) of the spike protein. It is unclear which mutations affect receptor affinity versus immune recognition. Methods: We produced RBD with single mutations (E484K, K417N or N501Y) or with all three mutations combined and tested their binding to ACE2 by biolayer interferometry (BLI). The ability of convalescent sera to recognize RBDs and block their interaction with ACE2 was tested as well. Results: We demonstrated that single mutation N501Y increased binding affinity to ACE2 but did not significantly affect its recognition by convalescent sera. In contrast, single mutation E484K had almost no impact on the binding kinetics, but essentially abolished recognition of RBD by convalescent sera. Interestingly, combining mutations E484K, K417N and N501Y resulted in a RBD with both features: enhanced receptor binding and abolished immune recognition. Conclusion: Our data demonstrate that single mutations either affect receptor affinity or immune recognition while triple mutant RBDs combine both features.
The Problematic Lag between FDA Approval of Medical Devices and CMS Coverage
Bradley Knight
Thomas Deering

Bradley Knight

and 4 more

April 21, 2021
Significant changes or cancellation of MCIT could result in limiting access to breakthrough medical technologies that could improve the health and well-being of Medicare beneficiaries. For these reasons, we encourage federal agencies to work together and CMS to implement the MCIT rule without delay to ensure timely access to breakthrough technologies
Eruptive acral lentiginosis following chemotherapy for acute lymphoblastic leukaemia:...
Cathal O'Connor
Clodagh Ryan

Cathal O'Connor

and 2 more

April 21, 2021
Lentigines are brown macules which represent increased proliferation of melanocytes at the dermo-epidermal junction. We report three cases of acral lentiginosis in children following chemotherapy for acute lymphoblastic leukaemia (ALL) which have persisted following cessation of chemotherapy, despite avid photoprotection.
Prey life history influences the evolution of egg mass and reproductive investment in...
Jean-Louis Hemptinne
Emilie Lecompte

Jean-Louis Hemptinne

and 4 more

April 21, 2021
1. The balance between risk and benefit of exploiting resources drives life history evolution. Predators are naturally recognized as major drivers of the life history evolution of their prey. The concept of an evolutionary arms race posits that prey also influence the life history evolution of their predators. There is far more evidence on the role of predators than of prey. 2. The goal of this study was to investigate the role of prey in life history evolution of predators using ladybird beetle predators either of aphids or coccids. These particular organisms were chosen because literature shows that the pace of life of aphids is faster than that of coccids and this difference is reflected in the life histories of the ladybirds that specialize on feeding on aphids or coccids. 3. Thirty-four species of ladybird predators of aphids and eight of coccids belonging to five different tribes were collected and reared in the laboratory. The females were weighed as well as their eggs, and their reproductive investment calculated as the number of ovarioles multiplied by the average mass of an egg. Phylogenetic relatedness was controlled for in the statistical analyses. 4. Controlling for female mass revealed that ladybird predators of aphids lay bigger eggs and have a higher reproductive investment than ladybird predators of coccids. These differences are not influenced by phylogenetic relatedness but only by the type of prey. We suggest that ladybird predators of coccids lay smaller eggs because neonate larvae do not have to search, catch and subdue prey, and that they have a smaller reproductive investment because they need to allocate more resources to locate prey. 5. Recognizing the influence of prey on the life history evolution of predators is important for understanding food web dynamics.
Optimizing rates and access to Caesarean sections in India: A cost-effectiveness anal...
Lina Roa
Luke Caddell

Lina Roa

and 6 more

April 21, 2021
Objective: Assessment of the cost-effectiveness of strategies to scale up cesarean sections (CS) Design: Cost-effectiveness analysis to evaluate three different strategies to scale up CS Setting: Rural and urban areas of India with varying rates of CS and access to comprehensive emergency obstetric care (CEmOC) Population: Women of reproductive age in India Methods: Three strategies with different access to CEmOC and CS rates were evaluated: (A) India’s national average (50.2% access, 17.2% CS rate), (B) rural areas (47.2% access, 12.8% CS rate) and (C) urban areas (55.7% access, 28.2% CS rate). We performed a first-order Monte Carlo simulation using a 1-year cycle time and 35-year time horizon. All inputs were derived from literature. A societal perspective was utilized with a willingness-to-pay threshold of $1,940. Main outcome measures: Costs and quality-adjusted life years were used to calculate the incremental cost-effectiveness ratio (ICER). Maternal and neonatal outcomes were calculated. Results: Strategy C with the highest access to CEmOC despite the highest CS rate was cost-effective, with an ICER of 354.90. Two-way sensitivity analysis demonstrated this was driven by increased access to CEmOC. The highest CS rate strategy had the highest number of previa, accreta and ICU admissions. The strategy with the lowest access to CEmOC had the highest number of fistulae, uterine rupture, and stillbirths. Conclusions: Morbidity and mortality result from lack of access to CEmOC and overuse of CS. While interventions are needed to address both, increasing access to surgical obstetric care drives cost-effectiveness and is paramount to optimize outcomes.
Association of maternal obesity with preterm birth phenotype and mediation effects of...
kan liu
yixuan chen

kan liu

and 8 more

April 21, 2021
Objectives: To clarify the relationship between prepregnancy body mass index (BMI) and the phenotypes of preterm birth and evaluate the mediation effects of gestational diabetes mellitus (GDM) and preeclampsia (PE) on the relationship between prepregnancy BMI and preterm birth. Design: Prospective cohort study Setting: Shenzhen Maternity & Child Healthcare Hospital Population or Sample: 42196 singleton livebirths Methods: Prospective cohort study using the Birth Cohort in Shenzhen (BiCoS) dataset. Main Outcome Measures: Preterm birth was defined as gestational age less than 37 weeks. Results: Risks of extremely, very, and moderately preterm birth increased with BMI, and the highest risk was observed for obese women with extremely preterm birth (OR 3.43, 95% CI 1.07 –10.97). Maternal obesity was significantly associated with spontaneous preterm labor (OR 1.98; 95% CI 1.13–3.47), premature rupture of the membranes (OR 2.04; 95% CI 1.08–3.86) and medically indicated preterm birth (OR 2.05; 95% CI 1.25–3.37). GDM and PE mediated 13.41% and 36.66% of the effect of obesity on preterm birth, respectively. GDM mediated 32.80% of the effect of obesity on spontaneous preterm labor and PE mediated 64.31% of the effect of obesity on medically indicated preterm birth. Conclusions: Maternal prepregnancy obesity was associated with all phenotypes of preterm birth, and the highest risks were extremely preterm birth and medically indicated preterm birth. GDM and PE partially mediated the association between obesity and preterm birth. Funding: NSFC(81830041, 81771611); Shenzhen Science and Technology Project (JCYJ20170412140326739) KEYWORDS: obesity, prepregnancy BMI, preterm birth, phenotype, gestational diabetes mellitus, preeclampsia
Capture by hybridization for full-length barcode-based eukaryotic and prokaryotic bio...
Babett Günther
Sophie MARRE

Babett Günther

and 6 more

April 21, 2021
Biodiversity inventory remains limited in marine systems due to unbalanced access to the three ocean dimensions. The use of environmental DNA (eDNA) for metabarcoding allows fast and effective biodiversity inventory and is forecast as a future biodiversity research and biomonitoring tool. However, in poorly understood ecosystems, eDNA results remain difficult to interpret due to large gaps in reference databases and PCR bias limiting the detection of some major phyla. Here, we aimed to circumvent these limitations by avoiding PCR and recollecting larger DNA fragments to improve assignment of detected taxa through phylogenetic reconstruction. We applied capture by hybridization (CBH) to enrich DNA from deep-sea sediment samples and compared the results with those obtained through an up-to-date metabarcoding PCR-based approach (MTB). Originally developed for bacterial communities by targeting 16S rDNA, the CBH approach was applied to 18S rDNA to improve the detection of species forming benthic communities of eukaryotes, with particular focus on metazoans. The results confirmed the possibility of extending CBH to metazoans with two major advantages: i) CBH revealed a broader spectrum of prokaryotic, eukaryotic, and particularly metazoan diversity, and ii) CBH allowed much more robust phylogenetic reconstructions of full-length barcodes with up to 1900 base pairs. This is particularly important for taxa whose assignment is hampered by gaps in reference databases. This study provides a database and probes to apply 18S CBH to diverse marine systems, confirming this promising new tool to improve biodiversity assessments in data-poor ecosystems like those in the deep sea.
Initial Report of a New Suture Cerclage Tape for Sternal Closure
Paul DiGiorgi

Paul DiGiorgi

April 21, 2021
PURPOSE: We sought to evaluate a new, flexible suture cerclage tape for sternal closure after cardiac surgery. DESCRIPTION: Fiber Tape (Arthrex, Naples, FL, USA) suture cerclage has been successfully utilized in the stabilization of long bone fractures. For sternal closure, it is placed similarly to wire cerclage. Uniquely, it allows a measurable amount of tension to be applied to the sternum and it is at least twice as strong as stainless steel wire. We hypothesized this new flexible tape would provide short term safety and efficacy, as measured by incidence of deep sternal wound infection. EVALUATION: We performed a retrospective, single center analysis of adult patients undergoing sternotomy closure with FT. The observed incidence of deep sternal wound infection (DSWI) was compared to the expected incidence calculated through the Society of Thoracic Surgery (STS) risk calculator. A total of 45 patients were closed with FT. No patients suffered DSWI. Thirty of the 45 patients had STS risk calculations. For these 30 patients, the expected rate of DSWI was 0.2%. CONCLUSIONS: Despite study limitations, FT appears to be a safe method for sternal closure.
Long stent graft for frozen elephant trunk repair in acute type A aortic dissection
Chaojie Wang
Wenqian Zhang

Chaojie Wang

and 6 more

April 21, 2021
OBJECTIVES: The frozen elephant trunk (FET) technique has become an important tool in the treatment of acute type A aortic dissection. The aim of this study was to evaluate the effect of long FET on spinal cord injury (SCI) and distal aortic remodeling after acute type A aortic dissection based on clinical and radiological outcomes. METHODS: From January 2018 to November 2019, 158 patients [mean age 51.8 years (range 32 - 78 years), 88.6% male] with acute type A aortic dissection were treated by FET with 100 mm (n=113) or 150 mm (n=45) open hybrid stent graft prosthesis. Patients were divided into two groups according to the length of FET. The clinical and radiological outcomes of the patients were reviewed retrospectively. RESULTS: Postoperative outcomes did not differ significantly: in-hospital mortality (9.7% vs 6.7%, P=0.758) and SCI (5.3% vs 2.2%, P=0.674). Aortic remodeling, which was evaluated by aortic diameter, true lumen diameter, false lumen diameter and the rate of false lumen complete thrombosis, was more positive in long FET group in the descending thoracic aorta during the follow-up period. At the abdominal level, there was no statistically significant difference between the two groups. CONCLUSIONS: The long version of FET does not increase the risk of SCI in patients with acute type A aortic dissection. The application of long FET can achieve better results in terms of remodeling of the thoracic aorta in the short- and medium-term follow-up.
Red Blood Cell Distribution Width: A Predictor of Prognosis in Cardiac Surgery
Hengchao Wu

Hengchao Wu

April 21, 2021
Infectious endocarditis (IE) is a rare condition with an estimated yearly incidence of 3 to 10 cases per 100,000 people[1]. Its in-hospital mortality rate hovers around 18%, with one-year mortality reaching up to 40%[2]. Although nearly 50% of IE cases now undergo surgical intervention, it does not appear to elevate the in-hospital mortality risk[3]. Wei et al conducted a study on the relationship between red blood cell distribution width (RDW) value and postoperative death of IE patients. Their most remarkable finding was the in-hospital mortality rate was significantly higher in the High RDW group(55.6%vs.2.7%)[4]. Their results suggestted that RDW may become a valuable biomarker for estimating poor postoperative outcome in patients with IE. RDW reflects the variable size of circulating red blood cells and is routinely used to narrow the differential diagnosis of anemia. However, many studies had revealed that RDW maybe a new prognostic marker to predict the cardiovascular event. The increased value have been always linked with inflammatory and oxidative states. Further studies are required to explore the mechanism for the relationship between the RDW and adverse clinical outcomes.
The effects of different post-thawed culture periods on clinical outcomes in frozen e...
Yuhu Li
Xuexiang Cai

Yuhu Li

and 4 more

April 21, 2021
Objective To evaluate the effects of different post-thawed culture periods on the clinical outcomes Design A retrospective study. Setting Two IVF centers. Population Women undergoing first cleavage-stage embryo transfer in frozen-thawed cycles. Methods 9832 FET cycles were divided into three groups according to female age: < 35, 35-39 and > 39 years, and two groups depending on post-thawed culture period: short and long culture groups. The long culture group divided into three groups depending on blastomere growth number: ≤ 2, one ≤ 2 and the other > 2, and > 2 groups. Main Outcome Measures Implantation rate (IR), clinical pregnancy rate (CPR), multiple pregnancy rate (MPR), live birth rate (LBR) and neonatal characteristics. Results Long post-thawed culture caused a significant increase in the IR, CPR, MPR and LBR (P/CI = 0.002/1.034-1.162, 0.027/1.011-1.194, 0.028/1.014-1.255 and 0.001/1.054-1.245 respectively), and blastomere growth number had a significant effect on IR, CPR, MPR and LBR (P = 0.000, 0.000, 0.000 and 0.000 respectively). No significant differences were present in neonatal characteristics between the two post-thawed culture groups. Singleton group had a higher average gestational age and birthweight as well as a lower cesarean section rate, preterm labor rate and low birthweight rate. Conclusions Long post-thawed culture was associated with higher IR, CPR, MPR and LBR, and transferring a well-developed embryo after long post-thawed culture might be a viable embryo transfer strategy to decrease MPR while maintaining CPR and LBR. Funding None Keywords Post-thawed culture, blastomere growth, neonatal characteristics, live birth rate.
Application of an improved vegetation index from the visible spectrum in the diagnosi...
Thiago Quinaia
Renato Valle Junior

Thiago Quinaia

and 6 more

April 21, 2021
Inadequate pasture management causes land degradation and negative impacts on the socio-economic development of agricultural regions. Given the importance for Brazil and the World of pasture-based livestock production, the recognition of pasture degradation is essential. The use of remote sensing satellite systems to detect degraded pastures increased in the recent past, because of their capability to survey large portions of Earth’s surface. A struggle nowadays is to improve detection accuracy and to implement high-resolution surveys at farmland scale using unmanned aerial vehicles (UAVs). The satellite sensors capture reflectance from the visible spectrum and near infrared bands, which allows estimating plant’s vigor vegetation indices. The NDVI is a widely accepted index, but to generate an NDVI map using a UAV a relatively high-cost multispectral sensor is required, while most UAVs are equipped with low-cost RGB cameras. In the present study, a script developed on the Google Earth Engine image-processing platform manipulated images from the Landsat 8 satellite, and compared the performances of NDVI and an improved color index that we coined “Total Brightness Quotient” of red (TBQR), green (TBQG) and blue (TBQB) bands. An efficient detection of pasture degradation using the TBQs would be a good prognosis for the surveys at farm scale where environmental authorities are progressively using UAVs and forcing landowners towards pasture restoration. When compared to NDVI, the TBQG showed a correlation of 0.965 and an accuracy of 88.63%. Thus, the TBQG proved as efficient as the NDVI in the diagnosis of degraded pastures.
THE VALUE OF PRIMARY TRANSCRIPTS TO THE CLINICAL AND NON-CLINICAL GENOMICS COMMUNITY:...
Fiona Cunningham

Fiona Cunningham

and 8 more

April 21, 2021
Variant interpretation is dependent on transcript annotation and remains time consuming and challenging. There are major obstacles for historical data reuse and for interpretation of new variants. First, both RefSeq and Ensembl/GENCODE produce transcript sets in common use, but there is currently no easy way to translate between the two. Second, the resources often used for variant interpretation (e.g., ClinVar, gnomAD, UniProt) do not use the same transcript set, nor default transcript or protein sequence. Ensembl ran a survey in 2018 to sample attitudes to choosing one default transcript per locus, and to gather data on reference sequences used by the scientific community. This was publicised on the Ensembl and UCSC genome browsers, by email and on social media. We had 788 respondents. Here we report our results and roadmap to create an effective default set of transcripts for resources, and for reporting interpretation of clinical variants.
Rituximab-Induced Acute Lympholysis and Pancytopenia After COVID-19 Vaccination
Yuankai Lin
Victoria Leung

Yuankai Lin

and 1 more

April 21, 2021
Current guidelines do not adequately acknowledge the potential acute consequences in patients receiving both rituximab and COVID-19 vaccination. We report a case of rituximab-induced lympholysis and pancytopenia in a patient who received Moderna COVID-19 vaccine ten days before rituximab infusion. These observations highlight the urgent need to update current guideline.
Relevance of animal infections in SARS-Cov-2 spread: an update after 1 year of pandem...
Frazzini Sara
Amadori Massimo

Frazzini Sara

and 3 more

April 21, 2021
In December 2019, several cases of pneumonia caused by a novel Coronavirus, later identified as SARS-CoV-2, were detected in the Chinese city of Wuhan. Due to its rapid, worldwide spread, on 11 March 2020 the World Health Organization declared a pandemic state. Since this new virus is genetically similar to the coronaviruses of bats, it was thought to have a zoonotic origin. Within a year of the appearance of SARS-CoV-2, several cases of infection were also reported in animals, suggesting animal-to-human and animal-to-animal transmission within mammals. Natural infection has been found in both companion and captive animals such as lions, tigers and gorillas. Among farm animals, the only ones found to be susceptible to SARS-CoV-2 infection so far are minks. Experimental infections have documented the susceptibility to SARS-CoV-2 of several animal species, such as humanized mice, hamsters, cats, dogs, ferrets, racoon dogs, cattle and non-human primates. Experimental infections are crucial for both elucidation of the role of animals in transmission and development of appropriate animal models for pathogenesis and therapy studies. This review aims to update the knowledge on natural and experimental SARS-CoV-2 infections in animals.
COVID-19 in a Pregnant Patient with Beta-Thalassemia Major: A Case Report
Yousef Hailan
Gamal Sayed

Yousef Hailan

and 2 more

April 21, 2021
We report a case of a 35-years-old Lebanese pregnant lady with a background of beta-thalassemia major who was diagnosed with COVID-19 infection (Cycle threshold value 18) during her 23rd gestational week. Unfortunately, the pregnancy outcome was unfavorable. To our knowledge, this is the first report of such a case
Neurons and mechanism of epileptic associated genes in brain network: current concept...
Rajkumar  Prabhakaran

Rajkumar Prabhakaran

and 2 more

April 21, 2021
Neurons are the basic cell structure of the nervous system and responsible for the communication between brain and body. Brain networks are formed from a single neuron to highly complexed interconnected (˷ 100 billion) neurons. Imbalances between excitation and inhibition mechanism of neuronal cells leads to altered brain network causing seizure/epileptic activity. The mechanism is known as an ictogenic mechanism. In particular, epilepsy is characterized by abnormal neuronal cells and several genetic factors are attributed for their development. CHRNA4 is the first epileptic gene discovered in an autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Since, the era of epileptic genetics has reached to peaks and still extending the branches to study in detail to solve the mysteries behind the brain and epileptic/seizure genes. However, genes such as AQP4, SESN3, ARX, NTNG1, NTNG2, TSC1 and TSC2 need more attention in epilepsy genetic studies. Therefore, this review describes brain network during epilepsy (recurrent seizure) as well as deals with recent studies on molecular genetics and identification methods of epilepsy.
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