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Gaucher disease in Montenegro-genotype/phenotype correlations:Five cases report

World Journal of Clinical Cases 2019年第12期7卷 1475-1482页

作者： Snezana Vujosevic Sanja Medenica Vesko Vujicic Milena Dapcevic Nikola Bakic Ruhua Yang Jun Liu pramod k mistry Department of Endocrinology Internal Medicine Clinic Clinical Center of Montenegro Faculty of Medicine University of Montenegro Podgorica 81000 Montenegro Hematology Department Internal Medicine Clinic Clinical Center of Montenegro Faculty of Medicine University of Montenegro Podgorica 81000 Montenegro Yale Lysosomal Disease Center and Inherited Metabolic Liver Disease Clinic Yale University School of Medicine New Haven CT 06510 United States

BACkGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to correlate them with GBA gene mutations, as well as to identify GBA gene mutation in patients in Montenegro that are diagnosed with GD. CASES SUMMARY Five patients (4 male, 1 female) of type 1 GD (GD1) are reported. The age at diagnosis ranged from 7 to 40. Patients experienced delays of 1-12 years in diagnosis after the original onset of symptoms. The most common mode of presentation was a variable degree of splenomegaly and thrombocytopenia, while other symptoms included bone pain, hepatomegaly, abdominal pain and fatigue. Osteopenia was present in a majority of the patients: 4/5. All patients were found to have an asymptomatic Erlenmeyer flask deformity of the distal femur. On enzyme replacement therapy (ERT), the hematological and visceral parameters showed significant improvement, but no significant progression in bone mineral density was noticed. GBA gene sequencing revealed homozygosity for the N370S mutation in one patient. The genotypes of the other patients were N370S/55bp deletion, N370S/D409H (2 patients), and H255Q/N370S (1 patient). CONCLUSION The phenotypes of the GD1 encountered in Montenegro were severe but all responded well to ERT.

关键词： Gaucher disease Lysosomal storage disorder Glucocerebrosidase GBA gene sequencing Genotype Case report

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Intrumer:A Multi Module Distributed Explainable IDS/IPS for Securing Cloud Environment

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Computers, Materials & Continua 2025年第1期82卷 579-607页

作者： Nazreen Banu A S.k.B.Sangeetha Department of Computer Science and Engineering SRM Institute of Science and TechnologyVadapalani CampusChennai600026Tamil NaduIndia

The increasing use of cloud-based devices has reached the critical point of cybersecurity and unwanted network *** environments pose significant challenges in maintaining privacy and *** approaches,such as IDS,have been developed to tackle these ***,most conventional Intrusion Detection System(IDS)models struggle with unseen cyberattacks and complex high-dimensional *** fact,this paper introduces the idea of a novel distributed explainable and heterogeneous transformer-based intrusion detection system,named INTRUMER,which offers balanced accuracy,reliability,and security in cloud settings bymultiplemodulesworking together within *** traffic captured from cloud devices is first passed to the TC&TM module in which the Falcon Optimization Algorithm optimizes the feature selection process,and Naie Bayes algorithm performs the classification of *** selected features are classified further and are forwarded to the Heterogeneous Attention Transformer(HAT)*** this module,the contextual interactions of the network traffic are taken into account to classify them as normal or malicious *** classified results are further analyzed by the Explainable Prevention Module(XPM)to ensure trustworthiness by providing interpretable *** the explanations fromthe classifier,emergency alarms are transmitted to nearby IDSmodules,servers,and underlying cloud devices for the enhancement of preventive *** experiments on benchmark IDS datasets CICIDS 2017,Honeypots,and NSL-kDD were conducted to demonstrate the efficiency of the INTRUMER model in detecting network trafficwith high accuracy for different *** outperforms state-of-the-art approaches,obtaining better performance metrics:98.7%accuracy,97.5%precision,96.3%recall,and 97.8%*** results validate the robustness and effectiveness of INTRUMER in securing diverse cloud environments against sophisticated cyber threats.

关键词： Cloud computing intrusion detection system transformers and explainable artificial intelligence(XAI)

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Mesoporous carbon adsorbents from melamine–formaldehyde resin using nanocasting technique for CO_2 adsorption

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Journal of Environmental Sciences 2015年第6期27卷 238-248页

作者： Chitrakshi Goel Haripada Bhunia pramod k. Bajpai Department of Chemical Engineering Thapar University

Mesoporous carbon adsorbents, having high nitrogen content, were synthesized via nanocasting technique with melamine-formaldehyde resin as precursor and mesoporous silica as template. A series of adsorbents were prepared by varying the carbonization temperature from 400 to 700°C. Adsorbents were characterized thoroughly by nitrogen sorption, X-ray diffraction（XRD）, scanning electron microscopy（SEM）, transmission electron microscopy（TEM）, thermogravimetric analysis（TGA）, elemental（CHN） analysis, Fourier transform infrared（FTIR） spectroscopy and Boehm titration. Carbonization temperature controlled the properties of the synthesized adsorbents ranging from surface area to their nitrogen content, which play major role in their application as adsorbents for CO2 *** nanostructure of these materials was confirmed by XRD and TEM. Their nitrogen content decreased with an increase in carbonization temperature while other properties like surface area, pore volume, thermal stability and surface basicity increased with the carbonization temperature. These materials were evaluated for CO2 adsorption by fixed-bed column adsorption experiments. Adsorbent synthesized at 700°C was found to have the highest surface area and surface basicity along with maximum CO2 adsorption capacity among the synthesized adsorbents. Breakthrough time and CO2 equilibrium adsorption capacity were investigated from the breakthrough curves and were found to decrease with increase in adsorption temperature. Adsorption process for carbon adsorbent-CO2 system was found to be reversible with stable adsorption capacity over four consecutive adsorption-desorption cycles. From three isotherm models used to analyze the equilibrium data, Temkin isotherm model presented a nearly perfect fit implying the heterogeneous adsorbent surface.

关键词： Carbon Nanocasting Mesoporous CO2 adsorption Isotherm

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Cloning ＆ sequence identification of Hsp27 gene and expression analysis of the protein on thermal stress in Lucilia cuprina

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Insect Science 2016年第4期23卷 555-568页

作者： Manish k. Singh pramod k. Tiwari Center for Genomics Molecular & Human Genetics Jiwaji University Gwafior 474011 Cytogenetics Laboratory Department of Zoology Banaras Hindu University Varanasi 221005 India

Hsp27, a highly conserved small molecular weight heat shock protein, is widely known to be developmentally regulated and heat inducible. Its role in thermotolerance is also implicated. This study is a sequel of our earlier studies to understand the molecular organization of heat shock genes/proteins and their role in development and thermal adaptation in a sheep pest, Lucilia cuprina （blowfly）, which exhibits unusually high adaptability to a variety of environmental stresses, including heat and chemicals. In this report our aim was to understand the evolutionary relationship of Lucilia hsp27 gene/protein with those of other species and its role in thermal adaptation. We sequence characterized the Lchsp27 gene （coding region） and analyzed its expression in various larval and adult tissues under normal as well as heat shock conditions. The nucleotide sequence analysis of 678 bps long-coding region of Lchsp27 exhibited closest evolutionary proximity with Drosophila （90.09%）, which belongs to the same order, Diptera. Heat shock caused significant en- hancement in the expression ofLchsp27 gene in all the larval and adult tissues examined, however, in a tissue specific manner. Significantly, in Malpighian tubules, while the heatinduced level ofhsp27 transcript （mRNA） appeared increased as compared to control, the protein level remained unaltered and nuclear localized. We infer that Lchsp27 may have significant role in the maintenance of cellular homeostasis, particularly, during summer months, when the fly remains exposed to high heat in its natural habitat.

关键词： heat shock protein Hsp27 Lucilia cuprina thermal stress

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Effects of P301L-TAU on post-translational modifications of microtubules in human iPSC-derived cortical neurons and TAU transgenic mice

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Neural Regeneration Research 2025年第8期20卷 2348-2360页

作者： Mohamed Aghyad Al kabbani Christoph köhler Hans Zempel Institute of Human Genetics Faculty of Medicine and University Hospital CologneUniversity of CologneCologneGermany Center for Molecular Medicine Cologne(CMMC) University of CologneCologneGermany Center Anatomy Department ⅡMedical FacultyUniversity of CologneCologneGermany

TAU is a microtubule-associated protein that promotes microtubule assembly and stability in the *** is missorted and aggregated in an array of diseases known as *** are essential for neuronal function and regulated via a complex set of post-translational modifications,changes of which affect microtubule stability and dynamics,microtubule interaction with other proteins and cellular structures,and mediate recruitment of microtubule-severing *** impairment of microtubule dynamics causes neuronal dysfunction,we hypothesize cognitive impairment in human disease to be impacted by impairment of microtubule *** therefore aimed to study the effects of a disease-causing mutation of TAU(P301L)on the levels and localization of microtubule post-translational modifications indicative of microtubule stability and dynamics,to assess whether P301L-TAU causes stability-changing modifications to *** investigate TAU localization,phosphorylation,and effects on tubulin post-translational modifications,we expressed wild-type or P301L-TAU in human MAPT-kO induced pluripotent stem cell-derived neurons(i Neurons)and studied TAU in neurons in the hippocampus of mice transgenic for human P301L-TAU(p R5 mice).Human neurons expressing the longest TAU isoform(2N4R)with the P301L mutation showed increased TAU phosphorylation at the AT8,but not the p-Ser-262 epitope,and increased polyglutamylation and acetylation of microtubules compared with endogenous TAU-expressing neurons.P301L-TAU showed pronounced somatodendritic presence,but also successful axonal enrichment and a similar axodendritic distribution comparable to exogenously expressed 2N4R-wildtype-TAU.P301L-TAU-expressing hippocampal neurons in transgenic mice showed prominent missorting and tauopathy-typical AT8-phosphorylation of TAU and increased polyglutamylation,but reduced acetylation,of microtubules compared with non-transgenic *** sum,P301L-TAU results in changes in micr

关键词： human induced pluripotent stem cell microtubules P301L pR5 mice TAU tauopathy tubulin code

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Modelling reference evapotranspiration using gene expression programming and artificial neural network at Pantnagar,India

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Information Processing in Agriculture 2023年第4期10卷 547-563页

作者： Pangam Heramb pramod kumar Singh k.V.Ramana Rao A.Subeesh Division of Irrigation and Drainage Engineering ICAR-Central Institute of Agricultural EngineeringBhopal 462038India Department of Irrigation and Drainage Engineering G.B.Pant University of Agriculture and TechnologyPantnagar 263145India Division of Agricultural Mechanization ICAR-Central Institute of Agricultural EngineeringBhopal 462038India

Evapotranspiration is an essential component of the hydrological cycle that is of particular interest for water resource *** quantification is helpful in irrigation scheduling,water balance studies,water allocation,*** of reference evapotranspiration(ET0)using both gene expression programming(GEP)and artificial neural network(ANN)techniques was done using the daily meteorological data of the Pantnagar region,India,from 2010 to 2019.A total of 15 combinations of inputs were used in developing the ET0 *** model with the least number of inputs consisted of maximum and minimum air temperatures,whereas the model with the highest number of inputs consisted of maximum air temperature,minimum air temperature,mean relative humidity,number of sunshine hours,wind speed at 2mheight and extra-terrestrial radiation as inputs and with ET0 as the output for all the *** the GEP models were developed for a single functional set and pre-defined genetic operator values,while the best structure in each ANN model was found based on the performance during the testing *** was found that ANN models were superior to GEP models for the estimation *** was evident from the reduction in RMSE values ranging from 2%to 56%during training and testing phases in all the ANN models compared with GEP *** ANN models showed an increase of about 0.96%to 9.72%of R2 value compared to the respective GEP *** comparative study of these models with multiple linear regression(MLR)depicted that the ANN and GEP models were superior to MLR models.

关键词： Artificial Neural Networks Evolutionary algorithms Gene Expression Programming Machine Learning Regression Analysis Reference evapotranspiration models

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Human endogenous retrovirus type-W and multiple sclerosis–related smoldering neuroinflammation

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Neural Regeneration Research 2025年第3期20卷 813-814页

作者： Joel Gruchot Laura Reiche Andrew Chan Robert Hoepner Patrick küry Department of Neurology Medical Faculty and University Hospital DüsseldorfHeinrich Heine University DüsseldorfDüsseldorfGermany Department of Neurology InselspitalBern University Hospital and University of BernBernSwitzerland

Introduction to human endogenous retrovirus type-W(HERV-W): Genomic inheritance from the past includes retroviral sequences that have been stably incorporated into our genomes and account for up to 8% of human DNA.

关键词： endogenous inflammation Human

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Nucleoside modified mRNA-lipid nanoparticles as a new delivery platform for the repair of the injured spinal cord

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Neural Regeneration Research 2025年第8期20卷 2311-2312页

作者： krisztián Pajer Tamás Bellák Antal Nógrádi Department of Anatomy Histology and EmbryologyAlbert Szent-Györgyi Medical SchoolUniversity of SzegedSzegedHungary

Spinal cord injury and treatment opportunities:The adult mammalian spinal cord has a very limited capacity for spontaneous regeneration due to various intrinsic molecular and cellular *** the spinal cord neurons have the capacity to regenerate their axons,the expression of growth inhibitory factors,lack or suppression of proper guidance cues,and profound inflammatory responses do not permit successful regeneration(khyeam et al.,2021).

关键词： injured capacity modified

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Regression analysis of squeezing-induced hybrid nanofluid flow in Darcy-Forchheimer porous medium

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Applied Mathematics and Mechanics(English Edition) 2025年第1期46卷 193-208页

作者： k.MUHAMMAD M.SARFRAZ Department of Humanities and Sciences School of Electrical Engineering and Computer Science National University of Sciences and Technology Department of Mathematics Quaid-i-Azam University

This article presents a mathematical model addressing a scenario involving a hybrid nanofluid flow between two infinite parallel plates. One plate remains stationary, while the other moves downward at a squeezing velocity. The space between these plates contains a Darcy-Forchheimer porous medium. A mixture of water-based fluid with gold(Au) and silicon dioxide(Si O2) nanoparticles is formulated. In contrast to the conventional Fourier's heat flux equation, this study employs the Cattaneo-Christov heat flux equation. A uniform magnetic field is applied perpendicular to the flow direction, invoking magnetohydrodynamic(MHD) effects. Further, the model accounts for Joule heating, which is the heat generated when an electric current passes through the fluid. The problem is solved via NDSolve in MATHEMATICA. Numerical and statistical analyses are conducted to provide insights into the behavior of the nanomaterials between the parallel plates with respect to the flow, energy transport, and skin *** findings of this study have potential applications in enhancing cooling systems and optimizing thermal management strategies. It is observed that the squeezing motion generates additional pressure gradients within the fluid, which enhances the flow rate but reduces the frictional drag. Consequently, the fluid is pushed more vigorously between the plates, increasing the flow velocity. As the fluid experiences higher flow rates due to the increased squeezing effect, it spends less time in the region between the plates. The thermal relaxation, however, abruptly changes the temperature, leading to a decrease in the temperature fluctuations.

关键词： Nanofluidics

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A Hybrid Deep Learning Model for COVID-19 Prediction and Current Status of Clinical Trials Worldwide

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Computers, Materials & Continua 2021年第2期66卷 1897-1920页

作者： Shwet ketu pramod kumar Mishra Department of Computer Science Institute of ScienceBanaras Hindu UniversityVaranasiIndia

Infections or virus-based diseases are a significant threat to human societies and could affect the whole world within a very short *** Virus Disease-2019(COVID-19),also known as novel coronavirus or SARSCoV-2(Severe Acute Respiratory Syndrome-Coronavirus-2),is a respiratory based touch contiguous *** catastrophic situation resulting from the COVID-19 pandemic posed a serious threat to societies *** whole world is making tremendous efforts to combat this life-threatening *** taking remedial action and planning preventive measures on time,there is an urgent need for efficient prediction models to confront the COVID-19 outbreak.A deep learning-based ARIMA-LSTM hybrid model is proposed in this article for predicting the COVID-19 outbreak by utilizing real-time information from the WHO’s daily bulletin report as well as provides information regarding clinical trials across the *** evaluate the suitability and performance of our proposed model compared to other well-established prediction models,an experimental study has been *** estimate the prediction results,the three performance measures,i.e.,Root Mean Square Error(RMSE),Coefficient of determination(R2 Score),and Mean Absolute Percentage Error(MAPE)have been *** prediction results of fifty countries substantiated the fact that the proposed ARIMA-LSTM hybrid model performs very well as compared to other *** proposed model archives the lowest RMSE,lowest MAPE,and highest R2 Score throughout the testing,under varied selection criteria(country-wise).This article aims to contribute a deep learning-based solution for the wellbeing of livings and to provide the current status of clinical trials across the globe.

关键词： COVID-19 deep learning prediction clinical trials healthcare

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