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Xiao Li

and 6 more

Accurate monthly runoff prediction is of significance to extreme flood control and water resources management. However, traditional models without multivariable input for predicting monthly runoff may fail to capture runoff changes effectively due to the dual effect of climate change and human activities. Here, a Multi-input Artificial Intelligence Framework (MAIF) was put forward using five Artificial Intelligence (AI) models to predict monthly runoff, where multiple global circulation indices and surface meteorological indices are selected as explanatory variables by the Stepwise Regression or Copula Entropy methods. Besides, four univariate models were adopted as benchmarks. The MAIF was tested at two typical hydrological stations (i.e., Gaochang and Cuntan) in the Upper Yangtze River. The results indicate that the LSTM_Copula (Long short-term memory model combined with Copula entropy method) model outperformed the other models for both the Gaochang Station and Cuntan Station, whereas the GRU_Step (Gate recurrent unit model combined with Stepwise regression method) model and the RF_Copula (Random forest model combined with Copula entropy method) model showed satisfactory performances. In addition, the AI models with multi-variables input provide better predictability compared with four univariate models, with improvements of 5.10%, 4.16%, 5.34%, and 0.43% in the MAPE, RMSE, NSE, and R values for the Gaochang Station and 10.84%, 17.28%, 13.68%, and 3.55% for the Cuntan Station, making it an effective approach for monthly runoff forecasting in large rivers.

Simon Cazaurang

and 7 more

The hydraulic properties of ground vegetation cover are important for high resolution hydrological modeling of permafrost regions, due to its insulating and draining role. In this study, the morphological and effective hydraulic properties of Western Siberian Lowland ground vegetation samples (lichens, Sphagnum mosses, peat) are numerically assessed based on tomography scans. After numerical pre-processing, porosity is estimated through a void voxels counting algorithm, showing the existence of representative elementary volumes (REV) of porosity for most samples. Then, two methods are used to estimate hydraulic conductivity depending on the sample’s homogeneity. For the most homogeneous samples, Direct Numerical Simulations (DNS) of a single-phase flow are performed, leading to a definition of hydraulic conductivity related to REV, which is larger than those obtained for porosity. For more heterogeneous samples, no adequate REV may be defined. To bypass this issue, a pore network representation of the whole sample is created from computerized scans. Morphological and hydraulic properties are then estimated through this simplified representation. Both methods converged on similar results for porosity. Some discrepancies are observed in the morphological properties (specific surface area). Hydraulic conductivity fluctuates by two orders of magnitude, depending on the method used, and yet this uncertainty is less than that found in experimental studies. Therefore, biological and sampling artifacts are predominant over numerical biases. Porosity values are in line with previous values found in the literature, showing that arctic cryptogamic cover can be considered as an open and well-connected porous medium (over 99% of overall porosity is open porosity). Meanwhile, digitally estimated hydraulic conductivity is higher compared to previously obtained results based on field and laboratory experiments. This could be related to compressibility effects, occurring during field or laboratory measurements. Thus, some supplementary studies are compulsory for assessing syn-sampling and syn-measurement perturbations in experimentally estimated, effective hydraulic properties of such a biological porous medium.

Marc Ohmer

and 2 more

Karst springs are the natural outflow of karst water to the surface. These springs occur where the water table can reach the surface unimpeded. This study examines the effect of alluvial deposits with varying thickness and permeability, covering the main outlet (karst spring) of a karst network on karst drainage (e.g., development of the karst water, drainage patterns, conduit-matrix interaction) as a result of a positive base level shift. This was realized with a numerical conceptual model (FEFLOW) of a hypothetical karst aquifer with 6 model configurations (inactive vs. active conduit flow, free vs. confined spring conditions with 20 m and 50 m sediment cover, respectively, with low and high hydraulic conductivity). Conduit flow and coupled conduit-matrix interactions were incorporated into the model with one-dimensional discrete feature elements. The results show that the permeability of the sediments has a more distinctive effect on conduit discharge than their thickness. The conduit network significantly contributes to the drainage even with a fully confined spring outlet. The conduit system acts as a water collector from the matrix in the recharge zone. The buried outlet increases the hydrostatic pressure farther along the conduit, and water is pushed upwards back into the matrix in the vicinity of the stratigraphic contact. Depending on the depositional setting, this results in the evolution of one to multiple new flow systems towards new potential spring sites. The results obtained here provide insight into the likely responses of natural karst systems.

Cody Millar

and 6 more

Ecohydrological investigations commonly use the stable isotopes of water (hydrogen and oxygen) as a conservative ecosystem tracer. This approach requires accessing and analyzing water constrained within plant and soil matrices. Generally, there are six steps that researchers must pass through to retrieve hydrogen and oxygen isotope values from these plant and soil matrices: (i) sampling, (ii) sample storage and transport, (iii) extraction, (iv) pre-analysis processing, (v) isotopic analysis, and (vi) post-processing and correction. At each of these steps cumulative errors can be introduced which sum to non-trivial magnitudes. These errors can impact subsequent interpretations about water cycling through the soil-plant-atmosphere continuum. But these steps in the research ‘process chain’ are just the tip of the iceberg when it comes to uncertainly in published findings. At each of these discreet steps, there are multiple possible options to select from resulting in, as we will show, tens of thousands of possible combinations used by researchers to go from plant and soil samples to isotopic data. In a newly emerging science, so many options can create interpretive confusion and major issues with data comparability. This points to the need for the development of shared standardized approaches. Here we critically examine the state of the process chain, reflecting on the issues associated with each step, and end with suggestions to move our community towards standardization. We hope that critically assessing this common approach will help us see the current problem in its entirety and facilitate community action toward agreed upon standardized approaches.

Nguyen Dinh-Hung

and 6 more

The objective of this study was to determine the causative agent of an outbreak with clinical signs similar to those of piscine streptococcosis in farmed snakeskin gourami ( Trichopodus pectoralis). Initial microscopic examination revealed the predominance of a Gram-positive, cocci bacteria in the brain and kidney of the diseased fish. This bacterium was successfully isolated and identified as Streptococcus suis based on nucleotide homology of 16S rDNA and species-specific PCR. This isolate tested negative for serotype 2, one of the major zoonotic serotypes. Experimental infection was then performed to investigate the pathogenicity of the bacterium and its histopathological manifestation. Naïve juvenile and adult snakeskin gourami were injected intraperitoneally with a low dose (1.2×10 5 CFU/fish) and a high dose (1.2×10 7 CFU/fish) of S. suis. Cumulative mortality appeared to be dose- and size-dependent. Experimentally diseased fish exhibited clinical signs consistent with naturally diseased fish. Severe histopathological changes in multiple organs were observed in both juvenile and adult fish, including meningitis, severe congestion in the brain and eyes, thickened stromal layers of the retina, severe hepatic lipidosis and tissue degeneration. Notably, numerous granulomas containing massive bacterial cells in the necrotic core were observed in the infected fish. Relatively pure colonies of S. suis were recovered from tissues of experimentally diseased fish. Taken together, this study fulfilled Koch’s postulates, indicating that S. suis is a new piscine pathogen. Although this is a case report, public awareness and biosecurity measures should be considered to prevent the spread of the disease. Further surveillance of the pathogen’s distribution and research into the underlying causes of fish-host adaptation will provide insights into the genuine impact and appropriate disease control strategies.

Ziyan Liu

and 16 more

Ticks act as important vectors of infectious agents, and several emerging tick-borne viruses have recently been identified to be associated with human diseases in northeastern China. However, little is known about the tick virome in northeastern China. We used metatranscriptomics to investigate the virome diversity in Haemaphysalis japonica, H. concinna, Dermacentor silvarum, and Ixodes persulcatus ticks collected from northeastern China. In total, 22 RNA viruses were identified, including four each in the Nairoviridae and Phenuiviridae families, three each in the Flaviviridae, Rhabdoviridae, and Solemoviridae families, two in the Chuviridae family, and one each in the Partitiviridae, Tombusviridae families and an unclassified virus. Of these, eight viruses were novel species, belonging to the Nairoviridae (Ji’an nairovirus and Yichun nairovirus), Phenuiviridae (Mudanjiang phlebovirus), Rhabdoviridae (Tahe rhabdovirus 1-3), Chuviridae (Yichun mivirus), and Tombusviridae (Yichun tombus-like virus) families, and five members were established human pathogens, including Alongshan virus, tick-borne encephalitis virus, Songling virus, Beiji nairovirus, and Nuomin virus. I. persulcatus ticks had significant higher viral species than H. japonica, H. concinna, and D. silvarum ticks. Significant differences in tick viromes were observed among Daxing’an, Xiaoxing’an and Changbai mountains. These findings showed an extensive diversity of RNA viruses in ticks in northeastern China, revealing potential public health threats from the emerging tick-borne viruses. Further studies are needed to explain the natural circulation and pathogenicity of these viruses.

Fangdi Chang

and 9 more

Soil salinization is a critical environmental issue restricting agricultural production. Straw deep returning as interlayer (40 cm) has been a popularized practice to alleviate salt stress. However, the legacy effects of straw interlayer associated with the straw input amount on soil organic carbon (SOC) and total nitrogen (TN) in saline soil remain unclear. Therefore, a four-year (2015-2018) field experiment was conducted with four levels (i.e., 0, 6, 12 and 18 Mg ha -1) of straw returning as interlayer. Compared with no straw interlayer (CK), straw interlayers increased SOC content by 14-32% and 11-57% in 20-40 cm and 40-60 cm, respectively. Lower increases were for soil TN content (8-22% in 20-40 cm and 6-34% in 40-60 cm) than SOC content, which led to increase soil C:N ratio in the 20-60 cm soil depth. Compared with CK, remarkable increases of SOC and soil TN contents in 20-60 cm led to the decrease of stratification ratios (0-20: 20-60 cm), which promoted uniform distributions of SOC and TN in soil profiles. Even though soil parameters ranged widely according to the straw input, straw interlayer with 12 Mg ha -1 had higher SOC, TN, C:N ratio, and lower soil stratification ratio in 2015-2017, which contributed to salt leaching, water retention, and yield increment. These results highlighted the legacy effects of straw interlayers maintained more than four years, which led to an underestimation for previous short-term experiments, and demonstrated a great potential for subsoil fertility and salt-affected soil amelioration.

Duygu Ersan Demirci

and 2 more

Background Right ventricular dysfunction is a major cause of heart failure and mortality in end-stage renal disease patients. Scarce data is available regarding the comparison of echocardiographic right ventricular function in end-stage renal disease patients on hemodialysis (HD) and peritoneal dialysis (PD). The aim of the study was to evaluate the long-term impacts of different dialysis modalities on right ventricular function assessed by conventional echocardiography, in end-stage renal disease patients with preserved left ventricular function. Methods The study included 120 patients grouped as follows: PD(n=40), HD with arterio-venous fistula (n=40) and healthy control subjects (n=40). Conventional echocardiography was performed in all patients. A classification of right ventricular function was defined in HD patients by using tricuspid annular plane systolic excursion (TAPSE), right ventricular myocardial performance index (RV-MPI), fractional area change (FAC) and tricuspid lateral annulus systolic velocity (Sa) values. Correlation analysis was performed by using right ventricular dysfunction score, clinical and echocardiographic parameters. Results The mean age of the study population was 51.9±13.1 years and 47.5% were females. TAPSE and Sa velocity were found to be significantly lower and RV-MPI was significantly higher in patients undergoing HD, compared with control and PD patients. Logistic regression analysis showed that HD treatment was an independent risk factor for developing right ventricular dysfunction. Conclusion RV function was impaired in patients undergoing HD compared with patients on PD.

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Yuval Shafir

and 8 more

INTRODUCTION: Transvenous Lead Extraction (TLE) is usually performed via a superior approach. Predictors and outcomes of TLE requiring femoral vein bailout are poorly defined. We aimed to analyze predictors and consequences of TLE requiring femoral bailout. METHODS: A single tertiary center cohort of 421 consecutive patients who underwent TLE between May 2010 and February 2020 were analyzed. Venography was routinely performed before system upgrade to identify occluded veins. Patients were divided into 2 groups according to their need for femoral bailout extraction. RESULTS: A total of 928 leads were extracted with femoral bailout approach was needed in 71 leads(7.7%) among 49 patients(11.6%). A higher proportion of right ventricular(RV) leads required femoral bailout approach compared with right atrial(RA) leads[51/499(10.2%) vs 18/326(5.5%);p=0.02]. Femoral bailout was more common among younger patients, longer lead dwell time, more pocket entries, higher number of extracted leads, presence of abandoned leads and among patients with vascular occlusion. Following multivariate analysis, presence of abandoned leads, vascular occlusion and younger age remained a significant predictor for femoral bailout. Femoral bailout resulted in higher rates of major complications [5/49(10.2%) vs 12/372(3.2%);p=0.05] without intra-procedural mortality and no additional 30-day mortality[2/49(4.1%) vs 33/377(8.8%);p=0.39]. CONCLUSION: TLE of abandoned leads, occluded veins and younger age were found to be predictors of femoral bailout requirement. Despite higher rates of major complications in femoral TLE bailout, mortality was not increased. Venography prior to TLE should be considered for procedure planning.

Manuel E. Izquierdo

and 21 more

Background:  Heterozygote carriers of potentially pathogenic variants in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene have increased asthma risk. However, the frequency and impact of CFTR variation among individuals with asthma is unknown. Objective: To determine whether potentially pathogenic  CFTR variants associate with disease severity and whether individuals with two potentially pathogenic variants exist in a severe asthma-enriched cohort . Methods: We analyzed sequencing data spanning a 190.5Kb region of  CFTR in participants from the Severe Asthma Research Program (SARP1-3). Potentially pathogenic, rare  CFTR variants (frequency<0.05) were classified as CF-causing or of varying clinical consequences (VVCC) (CFTR2.org). Regression-based models tested for association between  CFTR genotypes (0-2 potentially pathogenic variants) and severity outcomes. Results: Of 1401 participants, 9.5% (134) had one potentially pathogenic variant, occurring more frequently in non-Hispanic white (NHW, 10.1% [84 of 831]) compared to African American individuals (AA, 5.2% [22 of 426]). We found ≥2 potentially pathogenic  CFTR variants in 1.4% (19); 0.5% (4) of NHW and 2.8% (12) of AA. Potentially pathogenic  CFTR variant genotypes (≥1 or ≥2 variants) were not cumulatively associated with lung function or exacerbations. In NHW, we found three F508del compound heterozygotes with F508del and a VVCC (two 5T;TG12[c.1210-11T>G] and one Arg1070Trp) and a homozygote for the VVCC, 5T;TG12. Conclusions: We found potentially pathogenic  CFTR variants within a severe asthma-enriched cohort , including three compound heterozygote genotypes variably associated with CF in NHW individuals. These findings provide the rationale for  CFTR sequencing and phenotyping of CF-related traits in individuals with severe asthma.

Hanan Al-Abboh

and 2 more

A Novel MECOM Variant Associated with Congenital Amegakaryocytic Thrombocytopenia and Radioulnar Synostosis Hanan Al-Abboh1, Akmal Zahra1 and Adekunle Adekile1,2Pediatric Hematology Unit, Mubarak Hospital1 and Department of Pediatrics, Faculty of Medicine, Kuwait University2, Kuwait Address Correspondence to: Professor Adekunle Adekile Department of Pediatrics Faculty of Medicine Kuwait University PO Box 24923 Safat 13110 Kuwait Email: adekunle.adekile@ku.edu.kw Tel: +96525319486To the EditorCongenital radioulnar synostosis (RUS) is a rare developmental anomaly of proximal fusion of the radius and ulna, resulting in limited pronation and supination of the forearm. It may accompany other abnormalities in the skeleton, kidney, heart and aneuploidy syndromes1,2. A subset of patients with RUS present with bone marrow failure (BMF) syndromes, characterized by amegakaryocytic thrombocytopenia (RUSAT), progressing to myelodysplasia and pancytopenia2,3. The hematological manifestations are quite variable, with some presenting with severe BMF in childhood, while others are mild and may not present until adulthood.Heterozygous germline variants in the homeobox A11 (HOXA11) gene were the first to be associated with RUS and designated RUSAT14, but lately, several families have been described with variants in the MDS1 and EVI1 complex (MECOM) locus, and referred to as RUSAT22,5,6. Many of these variants appear de novo , while others follow an autosomal dominant inheritance. We, hereby, report the case of a Kuwaiti patient who presented with congenital amegakaryocytic thrombocytopenia (CAMT) in the neonatal period and later noticed to have RUS. Whole exome sequencing revealed a novel MECOM variant.A.A. is a male Kuwaiti, the first child of consanguineous parents and was first seen at the age of 36 days, following antenatal ultrasound diagnosis of bilateral hydronephrosis and right renal cyst. He was a product of induced vaginal delivery with a birth weight of 2.3 kg. After delivery, he was kept under observation in the neonatal intensive care unit. His CBC showed isolated thrombocytopenia (Plt 34 x109/L). He received several platelet transfusions, as well as IVIG twice. Postnatal abdominal ultrasound showed multicystic right kidney, in addition to bilateral hydronephrosis. The mother had no history of thrombocytopenia during pregnancy and there was no other pertinent family history.Physical examination at presentation showed 2 café-au-lait spots, one on the back, measuring 1x2 cm and another over the left leg, that was less than 0.6 cm. There were no obvious dysmorphic features and other systems were unremarkable. CBC showed WBC 11.2 x109/L Hb 10.4 g/dL, MCV 83fl, Plt 49 x109/L, ANC 1.8 x109/L. Renal function tests were normal. Blood film showed no abnormal cells; there was true thrombocytopenia with giant forms. Antiplatelet antibody was negative. Abdominal ultrasound at age 1 month showed complete replacement of the right kidney by cystic changes with left moderate hydronephrosis. Skeletal survey was reportedly normal.Bone marrow biopsy showed normal distribution of granulocytic and erythroid precursors, with severe suppression of megakaryocytosis, consistent with a bone marrow failure syndrome. Chromosomal breakage study was normal. The patient was diagnosed with right undescended testis, as well as right inguinal hernia that were operated at age 1 year and 10 months. At the age 2 and a half years, A.A. was noticed to have limited bilateral arm movement supination and pronation. The mother volunteered that she has a similar defect. X-rays confirmed that the child had bilateral radioulnar synostosis. Whole exome sequencing showed that the patient is heterozygous for a previously-unreported MECOM gene, c.2282A>G mutation. Unfortunately, the parents have not been screened for these mutations.The patient has been under follow up for 4 years, his platelet count has been stable, ranging between 40-50 x109/L, with no bleeding tendency. In spite of his limited arm rotation, he currently functions normally in his daily activities, however, his hand writing skills and ability to engage in sports are yet to be observed since he is still pre-school age. Platelet transfusion is reserved only for severe bleeding, which he has not had. Bone marrow transplant may be considered in future if his bone marrow failure worsens and/or his marrow shows dysplastic changes.Dokal et al3 were the first to report an association between RUS and late-onset BMF, while Thompson et al described its association with CAMT and linked it to the c.872delA ,p.Asn291Thrfs3 variant of the HOXA11gene4,7. More recently, several germline mutations in the MECOM locus have been reported and appear to be the more common cause of RUSAT. Indeed, no other cases of HOXA11 mutations linked to RUSAT have been described since the initial report. Niihori et al8 reported the first 3 heterozygous MECOMmutations in 3 sporadic patients. These variants and those subsequently reported by Walne et al2 are in a highly conserved cluster within 10 amino acids (aa750-760) and impact on either the highly conserved Cys2His2 zinc finger motif (zinc finger 8, aa733-755) or the adjacent linker motif (aa756-760). It has been shown that removal of the 8th zinc finger causes granulopoiesis arrest while mutations and deletions in other parts of the complex, outside the 8th and 9th fingers, are associated with hematological disorders without RUS9.MECOM codes for a zinc finger transcription factor with important roles in normal development and oncogenesis and is involved in the regulation of embryonic development and hematopoietic stem-cell renewal. Hence the phenotype in individuals with these mutations is very variable ranging from BMF to different skeletal, cardiac, renal malformations, B cell deficiency and sensorineural deafness.Our patient showed a previously unreported variant in the region of the 8th zinc finger of the MECOM locus. This c.2282A>G missense variant results in the tyrosine to cysteine substitution at codon 761 (p.Tyr761Cys). The amino acid is in the Zinc finger, C2H2 and Zinc finger, C2H2-like protein domains and is highly evolutionarily conserved. Unfortunately, the parents were not screened for the mutation, however, the mother shows RUS, with normal blood counts. This is consistent with the marked variability in the clinical phenotype. The father is also physically and hematologically normal.Apart from thrombocytopenia, our patient also had renal abnormalities – hydronephrosis and multicystic kidney disease. The natural history of his condition is that he may develop pancytopenia and/or myelodysplasia in the future. He is under close follow up and will be considered for bone marrow transplantation if his condition worsens. In the meantime, he remains hypomegakaryocytic with a platelet count at 30 – 50 x 109/l while other blood cellular elements are normal. His renal function and hearing are being monitored, but still remain normal.AcknowledgementsWe thank the patient’s family for allowing us to report this case. The whole exome sequencing was done at the Laboratory of Genetics and Genomics, Cincinnati Children’s Hospital, Cincinnati, Ohio.References1. Rizzo R, Pavone V, Corsello G, Sorge G, Neri G, Opitz JM. Autosomal dominant and sporadic radio-ulnar synostosis. Am J Med Genet.1997;68(2):127-134.2. Walne A, Tummala H, Ellison A, et al. Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. Haematologica. 2018;103(7):e284-e287.3. Dokal I, Ganly P, Riebero I, et al. Late onset bone marrow failure associated with proximal fusion of radius and ulna: a new syndrome.Br J Haematol. 1989;71(2):277-280.4. Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000;26(4):397-398.5. Germeshausen M, Ancliff P, Estrada J, et al. MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. Blood Adv. 2018;2(6):586-596.6. Ripperger T, Hofmann W, Koch JC, et al. MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies. Haematologica. 2018;103(2):e55-e58.7. Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.Br J Haematol. 2001;113(4):866-870.8. Niihori T, Ouchi-Uchiyama M, Sasahara Y, et al. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. Am J Hum Genet.2015;97(6):848-854.9. Nielsen M, Vermont CL, Aten E, et al. Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia. J Med Genet.2012;49(9):598-600.

Hoda Abdelgawad

and 2 more

57-years old man presented with exertional dyspnea. An early systolic murmur was heard over the aortic areas 2D and 3D Echocardiography revealed unicuspid , unicommissural aortic valve (UAV) with a characteristic “teardrop” lateral orifice (Figure A) and moderate valve stenosis (3D planimetered aortic valve area (AVA) is 1.1cm2) (Figure B) Continuous wave Doppler across aortic valve (AV) showed high peak and mean systolic gradients of 85 and 60mmHg respectively.(Figure C). 2D /3D Transesophageal Echocardiography (TOE) revealed a subaortic ridge attached to the posterior annulus (Arrow) (Figure D) Further En-face viewing of the aortic valve from the left ventricular outflow tract (LVOT) perspective showed a shelf-like ridge extending from the commissure to the cusp (Arrow) (Figure E) Zoomed mode of the aortic- LVOT junction confirmed the presence of the subaortic ridge seen attached to the posterior aortic annulus near the commissural opening (Figure F) The patient was referred for surgical consultation .. Unicupid aortic valve (UAV) is a rare congenital anomaly that has.2 subtypes ; unicomissural and acommissural subtypes. Both can present with variable degrees of the aortic stenosis (AS) and/or aortic valve regurgitation (AR).UAV has more early, accelerated and severe valvular degeneration in addition to smaller orifice in comparison with bicuspid and tricuspid aortic valve. Echocardiography is the gold standard for diagnosis and evaluation of the AV morphology and function and the associated disorders such as ventricular septal defect , aortopathy and subaortic obstruction.. Surgical aortic valve replacement (AVR) and repair of the associated anomalies are the most common treatment modality .

Esin Isik

and 7 more

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