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Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma

International Journal of Ophthalmology(English edition) 2019年第4期12卷 607-614页

作者： Mohamed M.Khafagy nadia el-guendy Marwa A Tantawy Mohamed A.eldaly Hala M.elhilali Abdel Hady A.Abdel Wahab Ophthalmology Department Faculty of Medicine Cairo University Cancer Biology Department National Cancer Institute Cairo University Research Department Children's Cancer Hospital

AIM: To identify CYP1B1 gene mutations and evaluate their possible role as a prognostic factor for success rates in the surgical management of Egyptian congenital glaucoma patients.METHODS: Totally 42 eyes of 29 primary congenital glaucoma patients were operated on with combined trabeculotomy/trabeculectomy with mitomycin-C and followed up at 1 d, 1 wk, 1, 6 and 12 mo postoperatively. Genomic DNA was extracted from peripheral blood leukocytes. Coding regions of CYP1B1 gene were amplified using 13 pairs of primers, screened for mutations using single-strand conformation polymorphism followed by sequencing of both strands. Efficacy of the operation was graded as either a success [maintaining intraocular pressure(IOP) less than 21 mm Hg with or without antiglaucoma medication], or a failure(IOP more than 21 mm Hg with topical antiglaucoma medications). RESULTS: Seven novel mutations out of a total of 15 different mutations were found in the CYP1B1 genes of 14 patients(48.2%). The presence of CYP1B1 gene mutations did not correlate with the failure of the surgery(P=0.156, odds ratio=3.611, 95%CI, 0.56 to 22.89); while the positive consanguinity strongly correlated with failure of the initial procedure(P=0.016, odds ratio=11.25, 95%CI, 1.57 to 80.30). However, the Kaplan-Meier survival analysis revealed a significantly lower time of IOP control in the subgroup with mutations in CYP1B1 versus the congenital primary glaucoma group without mutations(log rank test, P=0.015).CONCLUSION: Seven new CYP1B1 mutations are identified in Egyptian patients. Patients harboring confirmed mutations suffered from early failure of the initial surgery. CYP1B1 mutations could be considered as a prognostic factor for surgery in primary congenital glaucoma.

关键词： CYP1B1 mutations primary congenital glaucoma intraocular pressure trabeculotomy/trabeculectomy with mitomycin-C.

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Phytochemical analysis, antioxidant, acetylcholinesterase, and α-amylase inhibitors from Hippeastrum hybridum extract

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Journal of Traditional Chinese Medicine 2024年第3期44卷 496-504页

作者： Naila Sher Mushtaq Ahmed nadia Mushtaq Department of Biotechnology University of Science and Technology Department of Botany University of Science and Technology

OBJECTIVE:To investigate the effects of Hippeastrum hybridum（HH） as a free radical scavenger,and an inhibitor of the two enzymes i-e Alpha-amylase（α-amylase） and acetylcholinesterase（AChE）.METHODS:In this study,HH plant was preliminary analyzed for phytochemical screening and then tested for its antioxidant,anti-α-amylase,and anti-AChE efficiency via standard procedures.RESULTS:Phytochemical analysis shows the existence of different compounds;while Coumarins and quinones were absent.The total phenolic,flavonoid,and tannins content were found to be（78.52±0.69） mg GAE/g,（2.01±0.04） mg RUE/g,and（58.12±0.23） mg TAE/g of plant extract respectively.28.02%±0.02% alkaloid and 2.02%±0.05% saponins were present in the HH extract.The HH extract showed the anti-oxidant property with IC50（50%inhibition） of（151.01±0.13）(HH),（79.01±0.04）(Ascorbic acid) for ferric reducing,（91.48±0.13）(HH),（48.02±0.11）(Ascorbic acid) against Ammonium molybdenum,（156.02±0.31）(HH),（52.38±0.21）(Ascorbic acid) against DPPH,136.01±0.21（HH）,52.02±0.31（Ascorbic acid） against H2O2,and 154.12±0.03（HH）,（40.05±0.15）(Ascorbic acid)μg/mL against ABTS respectively.Statistical analysis indicated that HH caused a competitive type of inhibition of α-amylase(Vmaxremained constant and Km increases from 10.65 to84.37%) while Glucophage caused the un-competitive type of inhibition i-e both Km and Vmaxdecreased from40.49 to 69.15%and 38.86 to 69.61%respectively.The Ki,（inhibition constant）;KI,（dissociation constant）,Km,（Michaelis-Menten constant）,and IC50 were found to be62,364,68.1,and 38.08±0.22 for HH and 12,101.05,195,34.01±0.21 for Glucophage.Similarly,HH causes an anon-competitive type of inhibition of AChE i-e Km remains constant while Vmaxdecreases from 60.5%to74.1%.The calculated Ki,KI,Km,and IC50 were found to be 32,36.2,0.05,and 18.117±0.018.CONCLUSION:From the current results,it is concluded that HH extract contains bioactive compounds,and could be a good alternative to controlling oxidants,Alzheimer‘s and Type-Ⅱ diabetic diseases.

关键词： Hippeastrum hybridum acetylcholinesterase alpha-amylase antioxidant phytochemicals

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Gender-Based Analysis of User Reactions to Facebook Posts

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Big Data Mining and Analytics 2024年第1期7卷 75-86页

作者： Yassine el Moudene Jaafar Idrais Rida el Abassi Abderrahim Sabour Mathematical Engineering and Computer Science Laboratory Faculty of SciencesIbn Zohr UniversityAgadir 8706Morocco Department of Computer Science Mathematical−High School of Technology Ibn Zohr UniversityAgadir 8706Morocco

Online Social Networks(OSNs)are based on the sharing of different types of information and on various interactions(comments,reactions,and sharing).One of these important actions is the emotional reaction to the content.The diversity of reaction types available on Facebook(namely FB)enables users to express their feelings,and its traceability creates and enriches the users’emotional identity in the virtual world.This paper is based on the analysis of 119875012 FB reactions(Like,Love,Haha,Wow,Sad,Angry,Thankful,and Pride)made at multiple levels(publications,comments,and sub-comments)to study and classify the users’emotional behavior,visualize the distribution of different types of reactions,and analyze the gender impact on emotion generation.All of these can be achieved by addressing these research questions:who reacts the most?Which emotion is the most expressed?

关键词： profiling knowledge extraction data mining emotion mining social media data crawling Facebook reactions gender

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Modeling environmental sensitivity and risk assessment of PAHs in sediments along two marine coastal areas in Egypt

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Petroleum Research 2024年第1期9卷 125-142页

作者： Muhammad A.el-Alfy National Institute of Oceanography and Fisheries NIOFCairoEgypt

Modeling the environmental sensitivity index(ESI)is vital in the planning and management processes,especially along the coastal areas.The main objectives of the study were to define the main sources of polycyclic aromatic hydrocarbons(PAHs),establish an ESI model,and measure the risk of PAHs on humans and the environment using various equations.The methodology of the research involved analyzing PAHs according to the EPA 550 methodology in sediments of the coastline in two important coastline areas in Egypt,namely the Gulf of Suez and the Mediterranean Sea,modeling the sensitivity of PAHs using ArcGIS 10.5 by integrating different physical,biological,and land use/cover factors,identifying the sources,and performing a risk assessment.Nine sediment samples were collected from each area.The produced sensitivity map could explain the highly sensitive areas along the Mediterranean Sea and Gulf of Suez coastlines(especially areas that were near drains'outlets,industrial sites,and sea ports).The highest mean PAH concentrations were Acenaphthylene and Fluorine in the Mediterranean Sea and Suez Gulf,respectively.It's obvious that the individual PAH concentrations were within the ERL,ERM,and Pel threshold limits,indicating no adverse biological impacts.The ratios of BaA/BaA+Chy,Flu/Flu+Py,and Ant/Ant+Phe gave an indication that most PAH sources were petrogenic(63.64%)and others(36.36%)were from petroleum combustion.The principle component analysis(PCA)indicated a diverse correlation among the isomer ratios and LU/LC activities.The carcinogenic risk values were in the very low category(ely.Increasing sources of carbon in seawater,especially with climatic change,may impact the aquatic environment and have impacts on organisms and coral reefs.So it is highly recommended to keep shorelines and seawater free of oil spillage activities along the coastal areas or take actions

关键词： Polycyclic aromatic hydrocarbons(PAHs) Modeling Sensitivity Gulf of Suez And Mediterranean sea

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The role of polymorphic cytochrome P450 gene(CYP2B6)in B-chronic lymphocytic leukemia(B-CLL)incidence and outcome among Egyptian patients

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Oncology Research 2024年第4期32卷 785-797页

作者： MENNA AL-ADL MAGDY MYOUSSEF AHMED el-SEBAIE SHERIF REFAAT AFAF el-SAID Division of Biochemistry Department of ChemistryFaculty of ScienceMansoura UniversityMansoura35511Egypt Hematology Unit Department of Clinical PathologyFaculty of MedicineMansoura UniversityMansoura35511Egypt Medical Oncology Unit Oncology Center Mansoura UniversityMansoura35511Egypt Department of Genetics Mansoura University Children’s HospitalMansoura35511Egypt

Cytochromes P450(CYPs)play a prominent role in catalyzing phase I xenobiotic biotransformation and account for about 75%of the total metabolism of commercially available drugs,including chemotherapeutics.The gene expression and enzyme activity of CYPs are variable between individuals,which subsequently leads to different patterns of susceptibility to carcinogenesis by genotoxic xenobiotics,as well as differences in the efficacy and toxicity of clinically used drugs.This research aimed to examine the presence of the CYP2B6*9 polymorphism and its possible association with the incidence of B-CLL in Egyptian patients,as well as the clinical outcome after receiving cyclophosphamide chemotherapy.DNA was isolated from whole blood samples of 100 de novo B-CLL cases and also from 100 sex-and age-matched healthy individuals.The presence of the CYP2B6*9(G516T)polymorphism was examined by PCR-based allele specific amplification(ASA).Patients were further indicated for receiving chemotherapy,and then they were followed up.The CYP2B6*9 variant indicated a statistically significant higher risk of B-CLL under different genetic models,comprising allelic(T-allele vs.G-allele,OR=4.8,pels.Following cyclophosphamide chemotherapy,we found that the patients with variant genotypes(GT+TT)were less likely to achieve remission compared to those with the wild-type genotype(GG),with a response percentage of(37.5%vs.83%,respectively).In conclusion,our findings showed that the CYP2B6*9(G516T)polymorphism is associated with B-CLL susceptibility among Egyptian patients.This variant greatly affected the clinical outcome and can serve as a good therapeutic marker in predicting response to cyclophosphamide treatment.

关键词： B-CLL Xenobiotics Cytochromes P450 CYP2B6

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Stability analysis of a time-delayed Van der Pol–Helmholtz–Duffing oscillator in fractal space with a non-perturbative approach

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Communications in Theoretical Physics 2024年第4期76卷 22-31页

作者： Yusry O el-Dib Department of Mathematics Faculty of EducationAin Shams UniversityRoxyCairoEgypt

The time-delayed fractal Van der Pol–Helmholtz–Duffing(VPHD)oscillator is the subject of this paper,which explores its mechanisms and highlights its stability analysis.While time-delayed technologies are currently garnering significant attention,the focus of this research remains crucially relevant.A non-perturbative approach is employed to refine and set the stage for the system under scrutiny.The innovative methodologies introduced yield an equivalent linear differential equation,mirroring the inherent nonlinearities of the system.Notably,the incorporation of quadratic nonlinearity into the frequency formula represents a cutting-edge advancement.The analytical solution's validity is corroborated using a numerical approach.Stability conditions are ascertained through the residual Galerkin method.Intriguingly,it is observed that the delay parameter,in the context of the fractal system,reverses its stabilizing influence,impacting both the amplitude of delayed velocity and the position.The analytical solution's precision is underscored by its close alignment with numerical results.Furthermore,the study reveals that fractal characteristics emulate damping behaviors.Given its applicability across diverse nonlinear dynamical systems,this non-perturbative approach emerges as a promising avenue for future research.

关键词： Van der Pol-Helmholtz-Duffing oscillator fractal space time-delay non-perturbative approach stability analysis el-Dib's frequency formula

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Correlation between DKK-1 Level and Bone Density Status in Children on Maintenance Haemodialysis

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Open Journal of Nephrology 2024年第1期14卷 48-61页

作者： Manal Abd el-Salam Marwa Mohamed Anwar Rasha Mahmoud Gouda Naglaa Abou el Fattah nadia Youssef Riad Department of Pediatrics Faculty of Medicine (For Girls) Al-Azhar University Cairo Egypt Department of Internal Medicine Faculty of Medicine (For Girls) Al-Azhar University Cairo Egypt Department of Clinical Pathology National Heart Institute Cairo Egypt

Background: Renal osteodystrophy (ROD) is a bone disorder resulting from chronic kidney disease (CKD) and related metabolic diseases. Dickkopf-related protein-1 (DKK-1) is critical in regulating bone biology. This study aimed to evaluate the serum DKK-1 level as a bone marker in children with CKD who undergo regular hemodialysis (HD). Subjects and Methods: This case-control study involved 40 children with CKD on HD and 40 healthy children as controls. The study measured serum DKK-1 levels and performed a dual-energy X-ray absorptiometry scan (DEXA) in line with routine laboratory investigations. Results: There was a significant increase in the serum level of DKK-1 in the patient group compared to the control group. The DKK-1 levels were 2540.65 (2215.4 - 2909.2) pg/ml and 1110.45 (885.45 - 1527.65) pg/ml, respectively, with a p-value of less than 0.001. In the hemodialysis group, 25 patients (62.5%) had low bone mineral density (BMD) with a Z-score of under -2.0. Eighteen of these patients had low BMD in both the neck of the femur and lumbar spines. Additionally, there was a significant increase in serum DKK-1 level in patients with low BMD (2567.35 (2303.8 - 3108.1) pg/ml) compared to patients with normal BMD (2454 (1859 - 2820) pg/ml) (p = 0.041). There was also a significant positive correlation between DKK1 level and phosphorus, alkaline phosphatase, and Parathormone serum levels. In conclusion, the study indicates a clear correlation between DKK-1 and BMD in children undergoing maintenance hemodialysis. DKK1 is a promising biomarker for CKD-MBD.

关键词： DKK-1 Children Haemodialysis Bone Density Status

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Nonlinear wave dispersion in monoatomic chains with lumped and distributed masses:discrete and continuum models

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Applied Mathematics and Mechanics(English Edition) 2024年第4期45卷 633-648页

作者： E.GHAVANLOO S.el-BORGI School of Mechanical Engineering Shiraz UniversityShiraz 71963-16548Iran Mechanical Engineering Program Texas A&M University at QatarDoha 23874Qatar

The main objective of this paper is to investigate the influence of inertia of nonlinear springs on the dispersion behavior of discrete monoatomic chains with lumped and distributed masses.The developed model can represent the wave propagation problem in a non-homogeneous material consisting of heavy inclusions embedded in a matrix.The inclusions are idealized by lumped masses,and the matrix between adjacent inclusions is modeled by a nonlinear spring with distributed masses.Additionally,the model is capable of depicting the wave propagation in bi-material bars,wherein the first material is represented by a rigid particle and the second one is represented by a nonlinear spring with distributed masses.The discrete model of the nonlinear monoatomic chain with lumped and distributed masses is first considered,and a closed-form expression of the dispersion relation is obtained by the second-order Lindstedt-Poincare method(LPM).Next,a continuum model for the nonlinear monoatomic chain is derived directly from its discrete lattice model by a suitable continualization technique.The subsequent use of the second-order method of multiple scales(MMS)facilitates the derivation of the corresponding nonlinear dispersion relation in a closed form.The novelties of the present study consist of(i)considering the inertia of nonlinear springs on the dispersion behavior of the discrete mass-spring chains;(ii)developing the second-order LPM for the wave propagation in the discrete chains;and(iii)deriving a continuum model for the nonlinear monoatomic chains with lumped and distributed masses.Finally,a parametric study is conducted to examine the effects of the design parameters and the distributed spring mass on the nonlinear dispersion relations and phase velocities obtained from both the discrete and continuum models.These parameters include the ratio of the spring mass to the lumped mass,the nonlinear stiffness coefficient of the spring,and the wave amplitude.

关键词： nonlinear mass-spring chain discrete model continuum model LindstedtPoincare method(LPM) method of multiple scales(MMS) dispersion phase velocity

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Surgical Management of a Collision Tumor: The Association of Intracranial Meningioma and Macroadenoma

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Open Journal of Modern Neurosurgery 2024年第1期14卷 48-56页

作者： Salma Abbas Yao Christian Hugues Dokponou Thameen Jaradat Mahjouba Boutarbouch nadia Cherradi Hafsa el Ouazzani Abdessamad el Ouahabi Department of Neurosurgery Faculty of Medicine and Pharmacy Mohammed V University Rabat Morocco Department of Pathology Faculty of Medicine and Pharmacy Mohammed V University Rabat Morocco

Background: The simultaneous presence of a pituitary adenoma and a meningioma is a rare and underreported condition. The randomly encountered cases need to be reported to further allow our understanding of this collision tumors that are still not understood nor fully described. Patients and Method: We report a case of coexisting nonfunctioning pituitary adenoma and a left temporal lobe meningioma revealed by a 1-year history of progressive vision loss and occasional headaches in a 56-year-old woman. Her clinical condition worsened in the last 5 months with ptosis, cavernous sinus syndrome, and ophthalmoplegia of the right eye without papilledema. There was an improvement in the visual symptoms after subtotal resection of both lesions through a right frontotemporal craniotomy. Histology confirmed a collision tumor. The patient was referred for adjuvant treatment with gamma knife radiosurgery. He was doing well and back to his usual duties 6 months later. Conclusion: A gross total or subtotal resection with adjuvant therapy is the gold standard for the surgical management of collision tumors for a favorable patient outcome.

关键词： Collision Tumors Meningioma Pituitary Adenoma

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Immunoglobulin A glomerulonephropathy:A review

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World Journal of Clinical Cases 2024年第8期12卷 1388-1394页

作者： Mohamad el Labban Salim Surani Department of Internal Medicine Mayo Cliic Health SystemMankatoMN 56001United States Department of Medicine&Pharmacology Texas A&M UniversityCollege StationTX 77843United State

In this editorial,we comment on the article by Meng et al published in the World Journal of Clinical Cases.We comprehensively review immunoglobulin A nephro-pathy(IgAN),including epidemiology,clinical presentation,diagnosis,and management.IgAN,also known as Berger's disease,is the most frequent type of primary glomerulonephritis(GN)globally.It is mostly found among the Asian population.The presentation can be variable,from microscopic hematuria to a rapidly progressive GN.Around 50%of patients present with single or recurring episodes of gross hematuria.An upper respiratory infection and tonsillitis often precede these episodes.Around 30%of patients present microscopic hematuria with or without proteinuria,usually detected on routine examination.The diagnosis relies on having a renal biopsy for pathology and immunofluorescence microscopy.We focus on risk stratification and management of IgAN.We provide a review of all the landmark studies to date.According to the 2021 KDIGO(kidney disease:Improving Global Outcomes)guidelines,patients with non-variant form IgAN are first treated conservatively for three to six months.This approach consists of adequate blood pressure control,reduction of proteinuria with renin-angiotensin system blockade,treatment of dyslipidemia,and lifestyle modifications(weight loss,exercise,smoking cessation,and dietary sodium restrictions).Following three to six months of conservative therapy,patients are further classified as high or low risk for disease progression.High-risk patients have proteinuria≥1 g/d orel of<1 g/d and stable/im-proved renal function indicates a good treatment response for patients on immu-nosuppressive therapy.

关键词： Immunoglobulin A nephropathy Glomerulonephritis Nephritic syndrome Angiotensin-converting enzyme inhibitor Angiotensin receptor blocker Systemic steroids Mycophenolate mofetil

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