AUTHOREA
Log in Sign Up Browse Preprints
LOG IN SIGN UP

Preprints

Explore 66,105 preprints on the Authorea Preprint Repository

A preprint on Authorea can be a complete scientific manuscript submitted to a journal, an essay, a whitepaper, or a blog post. Preprints on Authorea can contain datasets, code, figures, interactive visualizations and computational notebooks.
Read more about preprints.

Thermal entry problem for Vo ̵́cadlo fluid model bounded within passive tube and chan...
Muhammad Waris Khan
Naisr Ali

Muhammad Waris Khan

and 2 more

April 11, 2022
The biomedical applications of the Graetz-Nusselt problem with non-Newtonian properties are closely associated with heat transfer processes in fluid flow systems. Inspired by the ubiquity of complex rheological fluids in the thermal entry flow problem, we extend the classical Graetz-Nusselt problem for Vo ̵́cadlo non-Newtonian fluid. This analysis is also valid for Bingham viscoplastic liquid, power-law and Newtonian fluids. The problem is solved by a semi-analytic technique. For each fluid model, we obtain the closed-form solution of the velocity field for both planner and cylindrical confinements. The separation of variable approach is utilized to solve the energy equation along with the Dirichlet boundary condition. Furthermore, to obtain the refined eigenvalues (from Sturm-Liouville boundary value problem) MATLAB’s built-in bvp4c function is utilized. The viscous dissipation (Brinkman number) and axial conduction (Péclet number) effects on bulk temperature and Nusselt numbers are also incorporated. The plots of Nusselt number and mean temperature are presented for several values of yield stress parameter, power-law index and Brinkman number with their detailed explanation. The local Nusselt number for both geometries achieved fully developed condition for the larger values of axial distance x ̵̅. The current investigation can be applied in the field of nanotechnology, mechanical and biomedical engineering. Designing several thermal types of equipment and microfluidic devices also falls in the scope of this study.
Analysis of Vibrational Resonance in Position Dependent Mass System Under an Amplitud...
Chinnathambi Veerapadran
Suddalaikannan K

Chinnathambi Veerapadran

and 3 more

April 11, 2022
The phenomenon of vibrational resonance (VR) in a classical position-dependent mass (PDM) system under the influence of an amplitude modulated (AM) force with Ώ >> ω is numerically studied. The system provides an interesting scenario where PDM function makes a significant contribution to the occurrence of VR. With the results given by this paper one can weaken or enhance the weak low-frequency force in the PDM system by controlling the PDM parameters such as mass amplitude m0 and mass spatial nonlinearity λ. The basic dynamical behaviours such as VR, period-doubling, reverse period-doubling, chaos, hysteresis and jump phenomenon have been investigated through bifurcation diagram, phase portrait and response amplitude
Status epilepticus and the presence of SARS-COV-2 in the cerebrospinal fluid: a case...
Zahra Mirzaasgari
Sara Abdolahi

Zahra Mirzaasgari

and 3 more

April 11, 2022
A growing number of studies indicate a broad range of neurological manifestations, including seizures, occur in patients with COVID-19 infection. We report a 29-yers old female with status epilepticus and positive SARS-CoV-2 in the cerebrospinal fluid. Our findings support previous reports suggesting seizure as a possible symptom of COVID-19 infection.
New General Decay Result for a Class of Viscoelastic Pseudo-parabolic Equations with...
Vu Ngo
Dung Dao

Vu Ngo

and 1 more

April 11, 2022
This work is concerned with a multi-dimensional viscoeastic pseudo-parabolic equation with critical Sobolev exponent. First, with some suitable conditions, we prove that the weak solution exists globally. Next, we show that the stability of the system holds for a much larger class of kernels than the ones considered in previous literatures. More precisely, we consider the kernel $g:\left[ {0,\infty } \right) \longrightarrow \left( {0,\infty } \right)$ satisfying ${g^\prime }\left( t \right) \leqslant - \xi \left( t \right)G\left( {g\left( t \right)} \right)$, where $\xi$ and $G$ are functions satisfying some specific properties.
On the deformed Dirac equation for the improved quadratic exponential-type potential...
Abdelmadjid Maireche

Maireche Abdelmadjid

April 11, 2022
In this manuscript, we present a generalized formulation of the deformed Dirac equation, by considering the effect of a noncommutative space-time on the improved quadratic exponential-type potential plus Eckart potential and Yukawa-like tensor interaction (IQEPEP-YTi, in short). Using the Bopp’s shift method arising from the Weyl-Moyal star product, we obtain modified DDE equations for spin and p-spin symmetries. The new values of energy that we got appeared sensitive to the quantum numbers (j,k,s,l,m,…), the mixed potential depths (a,b,c,A,B), the range of the potential , and noncommutativity parameters . The three physical phenomena that are automatically generated as a result of the topological properties of noncommutativity are the perturbative spin-orbit coupling, the magnetic induction, and the third corresponds to the rotational proper phenomena. We show that the corrections to the spectrum energy are smaller than the main energy in the usual cases of the Dirac equation. The three physical phenomena that are automatically generated as a result of the topological properties of noncommutativity are the perturbative spin-orbit coupling, the magnetic induction, and the third corresponds to the rotational proper phenomena. We show that the corrections to the spectrum energy are smaller than the main energy in the usual cases of quantum field theory. In the new symmetries of extended relativistic quantum mechanics ERQM, it is not possible to get the exact analytical solutions for k=0 and, only the approximate solutions are available. Some special cases of our solution are investigated by choosing appropriate parameters in the IQEPEP-YTi model.
Accessible Surface Area and the Prediction of the Phenotypes of Missense Mutations
Eshel Faraggi
Robert Jernigan

Eshel Faraggi

and 2 more

April 11, 2022
Distinguishing between harmful and benign genetic variations is fundamental to our understanding of the relationship between genome and disease in general and for personalized medicine in particular. We investigated the relationship between predicted change in RASA and the phenotype of a missense mutation (MM). The ASAquick program was used to obtain RASA predictions for the original and mutated sequence and a parameter, δ , was introduced to assess the change in RASA for a given MM. We find that predicted RASA shows a robust, intricate signal with respect to genetic variation and that changes in RASA between variants can form a basis for a simple and quick predictor of the effect of MMs. Furthermore, we find that for hydrophobic residues, increase in the RASA corresponds to an increase in the likelihood that a MM would be harmful. For hydrophilic residues we find that a decrease in the RASA corresponds to a likelihood that a MM would be harmful. We also find that the size of the change in predicted RASA plays a role in determining the effect of a given MM. In future work we plan to use these results in developing more sophisticated forms of MM phenotype predictors.
Aufbau Principle and Singlet-Triplet Gap in Spherical Hooke Atoms
Xabier Telleria Allika
Jesus Ugalde

Xabier Telleria

and 5 more

April 11, 2022
Singlet and triplet spin state energies for three-dimensionalHooke atoms, i .e. electrons in a quadratic confinement, with even number of electrons (2, 4, 6, 8, 10) is discussed using Full-CI and CASSCF type wavefunctions with a variety of basis sets and considering perturbative corrections up to second order. The effect of the screening of the electron-electron interaction is also discussed by using a Yukawa-type potential with different values of the Yukawa screening parameter (λee =0.2, 0.4, 0.6, 0.8, 1.0). Our results show that the singlet state is the ground state for 2 and 8 electron Hooke atoms, whereas the triplet is the ground spin state for 4, 6 and 10 electron systems. This suggests the following Auf bau structure 1s < 1p < 1d with singlet ground spin states for systems in which the generation of the triplet implies an inter-shell one electron promotion, and triplet ground states in cases when there is a partial filling of electrons of a given shell. It is also observed that the screening of electronelectron interactions has a sizable quantitative effect on the relative energies of both spin states, specially in the case of 2 and 8 electron systems, favouring the singlet state over the triplet. However, the screening of the electron-electron interaction does not provoke a change in the nature of the ground spin state of these systems. By analyzing the different components of the energy, we have gained a deeper understanding of the effects of the kinetic, confinement and electron-electron interaction components of the energy.
BAW RF Filter Based on Single Crystal AlN-on-SiC Resonator
Rui Ding
Shurong Dong

Rui Ding

and 6 more

April 12, 2022
This Letter reports a new bulk acoustic wave (BAW) filter based on single crystal AlN piezoelectric film which has the potential application in 5G wireless communication. The single crystal AlN is deposited on SiC substrate by MOCVD and the air-cavity structure BAW device is fabricated. Testing results show that the fabricated resonators have Q-factor up to 837 and electromechanical coupling coefficient up to 7.2% with resonant frequency 3.2 GHz. The ladder-type filters are also developed on the same wafer, which have a center frequency of 3.38 GHz and 3 dB bandwidth 160 MHz, minimum insertion loss of 1.5 dB, and out-of-band rejection above 31dB. High performance of the filters comes from low defects of the single crystal AlN film, which demonstrates promising potential of single crystal AlN filters in 5G and future 6G applications.
Husbandry practices and trade networks between subsistence pig farmers: A potential r...
Cynthia Mapendere
Jan Helenus Ferguson

Cynthia Mapendere

and 3 more

April 10, 2022
Animal husbandry practices and livestock movements are some of the main factors that increase the risk of disease introduction and spread. This knowledge is particularly relevant in transboundary areas to anticipate and prevent the introduction of transboundary animal diseases. In South Africa, the management of some notifiable livestock diseases is based on the establishment of disease control zones in line with the recommendations of the World Animal Health Organization (OIE). Movement between these zones is controlled by local, provincial, and national veterinary authorities. Because disease occurrence and spread is a dynamic process, it is important to ensure that infected livestock are not exported from areas delineated as disease protection or control zones. In this study, 254 pig farmers were interviewed to gather information on the local socio-economic importance of pig farming, the pig husbandry methods employed and the movement of pigs within and outside the African swine fever (ASF) control zone from Northern Kwa Zulu Natal. In addition, blood samples taken from 174 domestic pig of those farms were tested for ASF antibodies. Social network analysis of data collected showed an extensive trade network without the involvement of intermediaries and sporadic exchanges with neighbouring communities, including some located in Mozambique and Eswatini. The maximum distance travelled for selling pigs was 495 km. Husbandry methods (free ranging pigs, throwing away carcass offal and slaughtering remains at homesteads) implemented by the farmers, predominantly single women, increased the risks of disease introduction and transmission. Considering the importance of subsistence pig farming in the study area, especially to women, and despite the absence of ASF antibodies in sampled pigs, it is highly relevant to educate the community and raise awareness on the risk implications of uncontrolled trade in pigs and poor husbandry practices in transboundary disease introduction and transmission.
Characterization of tidally accumulated plastic waste and its effect on seedling grow...
Aroloye O. Numbere
Ayobami  Aigberua

Aroloye O. Numbere

and 1 more

April 10, 2022
Plastic pollution has become a global problem with the proliferation many plastic goods. This study thus hypothesized that accumulated plastic waste will have adverse effect on mangrove growth. The study was carried out at a sand-filled and deforested mangrove forest at Eagle Island. Ten soils samples each (n =20) were collected underneath accumulated plastic waste vertically and horizontally. The soils were put in polythene bags and sent to the laboratory for analysis of total hydrocarbon content (THC), and heavy metals i.e., Zinc (Zn), Lead (Pb) and Cadmium (Cd) using the HACH DR 890 colorimeter (wavelength 420 nm) and microwave accelerated reaction system (MARS Xpress, North Carolina) respectively. In addition, mangrove (Rhizophora species) seedlings were also collected with soils from the plastic waste and non-plastic waste sites (control). The result shows that there is no significant difference in heavy metal concentration along the profile i.e., surface, and sub-surface soils (F1, 30 = 1.83, P = 0.186), and soil gradients (F3, 28 = 0.60, P = 0.619) of the soil. In contrast, there is significant difference in seedling growth between the control and plastic soils (F4, 200 , 65.24, P<0.001). Furthermore, microbial population showed significant difference horizontally (F3, 11 = 3.86, P = 0.04) but not vertically (F1, 11 = 4.60, P = 0.055) in plastic soil. This result implies that plastic pollutants can migrate horizontally to contaminate nearby mangroves. Thus, plastic waste should be managed to prevent pollutants from entering the food chain to contaminate humans.
Mixed land use levels in rural settlements and their influencing factors: A case stud...
Hongji Chen
Kangchuan Su

Hongji Chen

and 5 more

April 09, 2022
Mixed land use provides an important means of promoting the intensive and efficient use of land resources and stimulating endogenous development power in rural areas. This paper selects Pingba Village in Chongqing as the research area, and subdivid the land use types in the rural settlements according to fieldwork results and the principle of dominant function. Moreover, a land mixed use measurement system for rural settlements was constructed to analyze their levels of mixed land use. Furthermore, the influences of the natural environment, social, economic and other factors on mixed land use were comprehensively explored. The results show that 1) the mixed land use of rural settlements in the study area was at a medium level and showed significant spatial variability. 2) The difference in the natural environment determines the level of mixed land use and the basic pattern of its spatial differentiation. Social and economic factors, such as resident population and average household income, are key impact factors. Rural tourism resources, homestead agglomeration policies have important impacts on the level of mixed land use. In conclusion, the research suggests that mixed land use is an important way to boost rural revitalization. In the future, village planning could introduce the concept of mixed land use to improve the efficiency of land use, optimize the land use structure according to local conditions. In addition, it is necessary to scientifically and rationally guide rural settlements to agglomerate appropriately to improve the utilization efficiency of land resources and public service resources.
A Modified Portable Health Clinic System for Coronavirus Hotspot Areas
Mustafa Qassab
Qutaiba Ali

Mustafa Qassab

and 1 more

April 12, 2022
This study applied the World Health Organization (WHO) guidelines to redesign the Portable Health Clinic (PHC), as a Remote Healthcare System (RHS), for the spread of COVID-19 containment. Additionally, the proposed system not only collects people data but also classifies the case according to the the main symptoms of coronavirus using the COVID-19 triage process (CT-process) based on the analysis of measurement readings taken from patients, where drones are used as a PHC platform and are equipped with the required sensors and essential COVID-19 medications for testing and treating people at their doorstep autonomously when a full curfew is imposed.
Immune micro-environment around biomaterials implanted in soft tissues: emerging anal...
Nanyan Bian
Chenyu Chu

Nanyan Bian

and 6 more

April 09, 2022
After implantation of a biomaterial, both the host immune system and properties of the material determine the local immune response. In a scaffold-induced immune micro-environment, immune cells like macrophages present functional heterogeneity and plasticity. With the advancement of technology, emerging techniques such as single-cell RNA sequencing (scRNA-seq) enable high-resolution characterization of immune cell populations. In-depth understanding of the interaction between scaffolds and the host immune system helps to provide clues for the design of biomaterials to optimize regeneration and promote a pro-regenerative local immune micro-environment. In this review, we discuss the procedures of foreign body reaction in brief, present recent advances in elucidating mechanisms of foreign body response, and discuss the application of scRNA-seq in probing the scaffold immune micro-environment. With regard to biomaterial design, we summarize the influences that physical and chemical properties of biomaterials have on cell behaviors in the micro-environment and provide some reference to designing immunomodulatory biomaterials.
Contact Guidance Drives Upward Cellular Migration at The Mesoscopic Scale
Xiaoxiao Chen
Youjun Xia

Xiaoxiao Chen

and 8 more

April 09, 2022
The role of topographical pattern on cell behavior regulation has been recognized but has not been elucidated yet. Here, using soft lithography techniques to allow mass-production of microgrooved substrates with varying dimensions at mesoscopic scale (from single-cell to multicellular scale), we identified the spatial distribution of cancer cells in response to topographical pattern due to contact guidance. We observed that increasing depth and groove width is accompanied by more obvious preferential distribution on ridges. Determination of cell density and migrate velocity signatures reveals that the preferential distribution on ridges is caused by cell upward migration. Then, based on the investigation of influences of soluble factors concentration and quantification of cell-substrate adhesion, the cell upward motility was considered to be governed by cell-substrate adhesion caused by contact guidance due to different constraints. Interestingly, in response to the topological feature dimensions, the upward migration of cells is driven by alternative mechanisms based on FAs (focal adhesions) constraints (single-cell scale) and entropic maximization (multicellular scale). Understanding the mechanism of contact guidance on mesoscopic scale provides basic support for the study of cell alignment and migration, thereby aiding in disease progression prediction, especially for cancer metastasis.
Short-term topical therapies in treating plaque psoriasis: An updated systematic revi...
weiwei wu
nan gao

weiwei wu

and 4 more

April 09, 2022
Objective:To perform a network meta-analysis(NMA) of randomized controlled trials of topical therapies for plaque psoriasis, especially some new drugs for psoriasis.Our objective was to establish the effectiveness, tolerability and safety of topical treatments for people with chronic plaque psoriasis. Methods: We systematically searched PubMed, Cochrane Library and Embase databases to identify randomized controlled trials of topical therapies in adult patients with plaque psoriasis.Due to older literature were not able to included some novel topical therapies,we only searched the article that published between 01 January 2010 and 20 February 2022 in English. The primary efficacy assessment criteria were treatment success(the number of patients who achieved Physician’s Global Assessment or Investigator’s Global Assessment of a score of clear or nearly clear(PGA0/1,IGA0/1)) and the paitents who reported adverse events (AEs) at 4-12 weeks. Secondary criteria were the propotion of patients with 75 % reductions in Psoriasis Area and Severity Index (PASI 75) and the number of patients who reported drug withdrawal due to adverse events at 4-12 weeks.We combined with hierarchical cluster analyses to consider efficacy, safety and tolerability. Results: The review included 24 randomized controlled trials of topical treatments for plaque psoriasis with 9748 participants. This network meta-analysis showed that topical treatments were significantly more effective than placebo at 4-12weeks, in addition to tofacitinib ointment. hierarchical cluster analyses shows that topical calcipotriene and betamethasone dipropionate(Cal/BD),roflumilast,betamethasone,halobetasol-propionate and tazarotene(HP/TAZ), halobetasol were comparable with respect to high short-term efficacy, safety and tolerability, especially Cal/BD and roflumilast.
A lentinan-loaded hydrogel with a core-shell structure in-duces broad-spectrum resist...
Shunyu Xiang
Jing Wang

Shunyu Xiang

and 8 more

April 09, 2022
Control of plant virus disease largely depends on the induced plant defense achieved by the external application of synthetic chemical inducers with the ability to modify defense-signaling pathways. However, most of the molecular mechanisms underlying these chemical inducers remain unknown. Here, we developed a lentinan-loaded hy-drogel with a core-shell structure and discovered how it protects plants from different virus infections. The hydrogel was synthesized by adding a chitosan shell on the sur-face of the polyanion sodium alginate-calcium ion-lentinan (LNT) hydrogel (SL-gel) to form CSL-gel. CSL-gel exhibits the capacity to prolong the stable release of lenti-nan and promote calcium ions release. Application of CSL-gel on the root of plants induces broad-spectrum resistance against TMV, TuMV, PVX and TRV. Further-more, RNA-seq analysis identified that the calmodulin-like protein 19 gene (CML19) is upregulated by the sustained release of calcium ions from the CSL-gel, and silenc-ing and overexpression of CML19 alter the susceptibility and resistance of tobacco to TMV. Our findings provide evidence that the novel and synthetic CSL-gel with the sustainable release of LNT and calcium ion strongly inhibits the plant virus infection. This study uncovers a novel mode of action by which CSL-gel with the stable release of calcium ion triggers CML19 expression.
Inflammation and cardiovascular status impact midazolam pharmacokinetics in criticall...
Bikalpa Neupane
Hitesh Pandya

Bikalpa Neupane

and 6 more

April 09, 2022
Aims: Altered physiology caused by critical illness may change midazolam pharmacokinetics (PK) and thereby result in adverse reactions and outcomes in this vulnerable patient population. This study set out to determine which critical illness related factors impact on midazolam pharmacokinetics in children using population PK modelling. Methods: An observational, prospective, controlled study of children admitted to University Hospitals Leicester NHS Trust receiving IV midazolam as part of routine care. Children recruited into the study were either critically-ill receiving continuous infusions of midazolam or otherwise well, admitted for elective day-case surgery (control) who received a single IV bolus dose of midazolam. Blood midazolam and 1-OH-midazolam concentration and patient clinical data were used to develop a population PK model and to determine covariates which affect midazolam disposition during critical illness. Results: 35 patients were recruited into the critically ill arm of the study, 54 children into the control arm. Modelling demonstrated a significant change in midazolam clearance with acute inflammation (measured using C-Reactive Protein, CRP), cardio-vascular status and weight. Simulations predict that elevated CRP and compromised cardiovascular function in critically ill children result in midazolam concentrations up to 10-fold higher than healthy children. Conclusions: Raised CRP and compromised cardiovascular function significantly reduce midazolam clearance. The extremely high levels of midazolam observed in some critically-ill children indicate that the current therapeutic dosing regimen for midazolam can lead to over-dosing. Clinicians should be aware of this risk and intensify monitoring of such patients.
Medicines legislation and regulation in England, 1500--2020
Robin Ferner
Jeffrey Aronson

Robin Ferner

and 1 more

April 09, 2022
The initial purposes of regulation of medicines in England were principally to raise government revenue, to discourage murder by poisoning, and to regulate the activities of pharmacists. It was only much later that regulators sought to ensure that medicines were of good quality, reasonably safe, and at least somewhat effective, and to regulate misuse of drugs. Here we survey the history of the regulation of medicines and poisons in England from the perspective of clinicians with an interest in therapeutics.
Status and Genetic Diversity of Hipposideros pratti in the Northernmost Part of Its D...
Wei Liu
He Wang

Wei Liu

and 6 more

April 09, 2022
Hipposideros pratti is species of bat distributed in caves from Southeast Asia to the Qinling-Funiu Mountain area in China. To understand the dynamic changes in its distribution and evaluate the current health status of the species, we reviewed 48 caves in the northernmost area of the H. pratti distribution and conducted the first analysis of genetic diversity for the species in the region. H. pratti was only detected in three caves, the four previously distributed caves and the remaining 41 previously undistributed caves were not observed. An analysis based on microsatellite markers revealed a few key points. 1) The average number of observed alleles (Na) of H. pratti in the region was 3.94, and the average observed heterozygosity (Ho) was 0.5293. All three populations were in Hardy–Weinberg equilibrium. 2) Intra-population was the predominant genetic variation of the H. pratti population. 3) H. pratti in the region experienced a bottleneck effect. We found that the three caves where H. pratti are currently distributed face varying degrees of human interference and the populations are threatened. Management strategies, including appropriate countermeasures to reduce human interference in caves, are urgently needed.
Efficacy and safety of permissive hypercapnia in preterm infants: A systematic review
Yuri Ozawa
Fuyu Miyake

Yuri Ozawa

and 2 more

April 09, 2022
Context: In adults, permissive hypercapnia reduces mortality and ventilation duration. However, in preterm infants, findings from past research regarding the efficacy and safety of permissive hypercapnia are controversial. Objective: To evaluate the efficacy and safety of permissive hypercapnia versus normocapnia in preterm infants on mechanical ventilation. Data Sources: MEDLINE, EMBASE, CENTRAL, and CINAHL Study Selection: Published randomized controlled trials (RCTs), non-RCTs, interrupted time series, cohort studies, case-control studies, and controlled before-and-after studies were included. Data Extraction: Two reviewers independently screened the title and abstract and full text, extracted data, assessed the risk of bias, and evaluated certainty of evidence (CoE) according to the Grading of Recommendations Assessment, Development and Evaluation approach. A meta-analysis of RCTs was performed using the random-effects model. Results: Four RCTs (693 infants) and one cohort study (371 infants) were included. No significant differences existed between the permissive hypercapnia and normocapnia groups for bronchopulmonary dysplasia (BPD) (risk ratio [RR] 0.94; 95% confidence interval [CI] 0.74-1.18; very low CoE) and a composite outcome of death or BPD (RR 1.05; 95% CI 0.90-1.23; very low CoE). Permissive hypercapnia may increase necrotizing enterocolitis (RR 1.69; 95% CI 0.98-2.91; very low CoE), although the null or trivial effect cannot be excluded. No significant differences existed between the two groups for any other outcome assessed (very low-to-low CoE). Limitations: The sample sizes were less than the optimal sizes for all outcomes assessed, indicating the need for further trials. Conclusions: Permissive hypercapnia did not have any significant benefit or harm in preterm infants.
HIDEA Syndrome: A rare cause of congenital hypoventilation in a premature infant
Alicia Lim
Pih Lin Tan

Alicia Lim

and 5 more

April 09, 2022
Background: HIDEA syndrome is a rare and novel disease characterised by hypotonia, hypoventilation, intellectual disability, epilepsy and eye abnormalities. Diagnosis is made by genetic testing with exclusion of other causes of hypoventilation. We present a case of a neonate born premature to a pair of consanguineous parents with an atypical course of bronchopulmonary dysplasia subsequently diagnosed with HIDEA syndrome. Conclusion: This is the first case report of HIDEA syndrome in South East Asia, broadening our understanding of the full phenotypic pattern of HIDEA syndrome. Patients with HIDEA syndrome are at risk of prematurity and hypothyroidism. Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilation. This minimises the complications of chronic hypoxia and reduces mortality risk. HIDEA syndrome is an important differential diagnosis in the consideration of an infant who presents with hypoventilation.
REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING
Michael Rock
Mei W. Baker

Michael Rock

and 3 more

April 09, 2022
Background: Newborn screening (NBS) for cystic fibrosis (CF) has been underway universally in the USA for more than a decade, as well in most European countries, and algorithms have been evolving throughout this period with quality improvement projects as immunoreactive trypsinogen determinations alone have been transformed to a 2-tier strategy with DNA analyses. Objective: To apply next generation sequencing (NGS) as a method for expanding the DNA tier for identifying variants in the cystic fibrosis transmembrane conductance regulator ( CFTR) gene with minimization of unintended outcomes. Design: Sequential quality improvement project in three phases using plan coupled to statewide follow up and analysis of screening outcomes in comparison to other NBS programs that use CFTR sequencing. Results: After demonstrating feasibility in the first phase, we studied an IRT/NGS algorithm that included CFTR Variants with Varying Clinical Consequences (VVCCs). This revealed a high identification of CF patients with 2-variants detected through screening, but for every CF case there were 1.4 with cystic fibrosis metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). This led us to a third phase of quality improvement in which the VVCCs were eliminated except for R117H, resulting in 94% 2-variant detection of patients and 0.44:1 ratio of CRMS/CFSPID to CF. Conclusion: NGS can be used with IRT as an effective method of identifying infants at risk for CF without an appreciable increase in detection of either carriers or CRMS/CFSPID cases.
The Italian Consensus Conference on the role of rehabilitation for children and adole...
Francesca Rossi
Stefano Botti

Francesca Rossi

and 30 more

April 09, 2022
In Italy, 1400 children and 800 adolescents are diagnosed with cancer every year. About 80% of them can be cured but are at high risk of experiencing severe side effects, many of which respond to rehabilitation treatment. Due to the paucity of literature on this topic, the Italian Association of Pediatric Hematology and Oncology organized a Consensus Conference on the role of rehabilitation of motor impairments in children/adolescents affected by leukemia, central nervous system tumors, and bone cancer to state recommendations to improve clinical practice. This paper includes the results on the rehabilitation treatment.
Rivaroxaban for management of venous thromboembolism in pediatric nephrotic syndrome;...
Marie-Claude Pelland-Marcotte
Soumitra Tole

Marie-Claude Pelland-Marcotte

and 7 more

April 09, 2022
Thromboembolism is a major complication of nephrotic syndrome (NS). Hypoalbuminemia, loss of anticoagulant proteins, increased procoagulant proteins, hemoconcentration, and platelet activation contribute to a hypercoagulable state. Despite being well-described, the optimal management of thromboembolism in NS remains unclear. Rivaroxaban, a direct factor-Xa inhibitor has recently been shown to be safe and efficacious in treating pediatric venous thromboembolism but has not been well studied in NS. We present an adolescent with steroid-dependent NS, deep vein thrombosis and submassive pulmonary embolism successfully treated with rivaroxaban. We perform a systematic review of the reported safety and efficacy of direct factor-Xa inhibitor in this population.
← Previous 1 2 … 1877 1878 1879 1880 1881 1882 1883 1884 1885 … 2754 2755 Next →

| Powered by Authorea.com

  • Home