18 results on '"El-Moneim AA"'
Search Results
2. Constitutive modelling of elastomer/graphene platelet nanocomposites
- Author
-
Sherif Araby, Mohamed Hassan, Ahmed Abd El-Moneim, Amir A Abdelsalam, Abdelsalam, Amir A, Araby, Sherif, Hassan, MA, El-Moneim, AA, and International Conference on Materials and Intelligent Manufacturing (ICMIM) Singapore 21-23 August 2017 more...
- Subjects
Materials science ,02 engineering and technology ,010402 general chemistry ,021001 nanoscience & nanotechnology ,Elastomer ,01 natural sciences ,Finite element method ,0104 chemical sciences ,Strain energy ,Goodness of fit ,Approximation error ,Hyperelastic material ,Deformation (engineering) ,Composite material ,0210 nano-technology ,Tensile testing - Abstract
Elastomers are used in a wide variety of structural and engineering applications. They exhibit a nonlinear elastic stress-strain behaviour known as hyperelasticity which is generally described by hyperelastic strain energy functions. The question raised in the current study was; which model can accurately describe and predict the actual behaviour of the elastomer nanocomposites. The tensile data were used to fit the various elastomeric material models available in MSC. MARC finite element analysis package. The relative percentage error was calculated to determine the goodness of fit in order to select the best model. Numerical results showed that the third order deformation model was the best among the various material models since giving a maximum relative error of fit was 2.7% at small and large strains. To verify the effectiveness of third order deformation model, FE simulations for tensile test was carried out. The results showed that the third order model is sufficiently enough to regenerate the experimental data for uniaxial test and efficiently capture the hyperelastic behavior as good as the experiments. more...
- Published
- 2017
- Full Text
- View/download PDF
Catalog
3. Microporous Zr-metal-organic frameworks based-nanocomposites for thermoelectric applications.
- Author
-
Ebrahim A, Ghali M, and El-Moneim AA
- Abstract
In the area of energy storage and conversion, Metal-Organic Frameworks (MOFs) are receiving more and more attention. They combine organic nature with long-range order and low thermal conductivity, giving them qualities to be potentially attractive for thermoelectric applications. To make the framework electrically conductive so far, thermoelectricity in this class of materials requires infiltration by outside conductive guest molecules. In this study, an in-situ polymerization of conductive polyaniline inside the porous structure of MOF-801 was conducted to synthesize PANi@MOF-801 nanocomposites for thermoelectrical applications. The growth of polyaniline chains of different loadings inside the host MOF matrix generally enhanced bulk electrical conductivity by about 6 orders of magnitude, leading to Seebeck coefficient value of -141 µVK
-1 and improved thermal stability. The unusual increase in electrical conductivity was attributed to the formation of highly oriented conductive PANi chains inside the MOF pores, besides host-guest physical interaction, while the Seebeck coefficient enhancement was because of the energy filtering effect of the developed structure. Modulating the composition of PANi@MOF-801 composites by varying the aniline: MOF-801 ratio in the synthesis bath from 2:1 and 1:1 to 1:2 leads to a change in the semiconductor properties from p-type semiconductor to n-type. Among the examined composites with n-type semiconducting properties exhibited the highest ZT value, 0.015, and lowest thermal conductivity, 0.24 Wm-1 K-1 . The synthesized composites have better performance than those recently reported for a similar category of thermoelectric materials related to MOF-based composites., (© 2024. The Author(s).) more...- Published
- 2024
- Full Text
- View/download PDF
4. Tailoring MIL-100(Fe)-derived catalyst for controlled carbon dioxide conversion and product selectivity.
- Author
-
Ahmed HE, Albolkany MK, El-Khouly ME, and El-Moneim AA
- Abstract
Here in, we are reporting the effect of the catalyst particle size on the catalytic activity and product selectivity by understanding the strength of the interaction between the active catalyst and the reactants (CO
2 and H2 ). In this regard, two catalytic systems having different active catalyst particle sizes and support surface areas were synthesized using metal-organic frameworks (MOF) (MIL-100(Fe)) having two crystal size ranges as sacrificial templates. The active catalyst having smaller nanoparticles exhibited greater chemisorption of hydrogen (Fe-H bond), resulting in heightened selectivity for paraffin due to hydrogenation of re-adsorbed olefins. Conversely, larger nanoparticles showed enhanced chemisorption of CO2 (Fe-C bond), leading to increased selectivity for olefins (O/P = 0.15). Additionally, a reduction in particle size boosts activity from 24% to 38.7% at 340 °C/20 bar. While, higher particle size enhances the selectivity towards C5+ from 11.1 to 45.6% at (300 °C/10 bar) and 9.6 to 21.3% at (340 °C/20 bar)., Competing Interests: There are no conflicts of interest to declare., (This journal is © The Royal Society of Chemistry.) more...- Published
- 2024
- Full Text
- View/download PDF
5. Assessment of the therapeutic potential of a novel phosphoramidate acyclic nucleoside on induced hepatocellular carcinoma in rat model.
- Author
-
Said YA, Hammad SF, Halim MI, El-Moneim AA, and Osman A
- Abstract
Aims: Hepatocellular Carcinoma (HCC) is renowned as a deadly primary cancer of hepatic origin. Sorafenib is the drug-of-choice for targeted treatment of unresectable end-stage HCC. Unfortunately, great proportion of HCC patients showed intolerance or unresponsiveness to treatment. This study assesses potency of novel ProTide; SH-PAN-19 against N-Nitrosodiethylamine (DEN)-induced HCC in male Wistar rats, compared to Sorafenib., Main Methods: Structural entity of the synthesized compound was substantiated via FT-IR, UV-Vis,
1 H NMR and13 C NMR spectroscopic analysis. In vitro, SH-PAN-19 cytotoxicity was tested against 3 human cell lines; hepatocellular carcinoma; HepG-2, colorectal carcinoma; HCT-116 and normal fibroblasts; MRC-5. In vivo, therapeutic efficacy of SH-PAN-19 (300 mg/kg b.w./day) against HCC could be revealed and compared to that of Sorafenib (15 mg/kg b.w./day) by evaluating the morphometric, biochemical, histopathological, immunohistochemical and molecular key markers., Key Findings: SH-PAN-19 was relatively safe toward MRC-5 cells (IC50 = 307.6 μg/mL), highly cytotoxic to HepG-2 cells (IC50 = 24.9 μg/mL) and prominently hepato-selective (TSI = 12.35). Oral LD50 of SH-PAN-19 was >3000 mg/kg b.w. DEN-injected rats suffered hepatomegaly, oxidative stress, elevated liver enzymes, hypoalbuminemia, bilirubinemia and skyrocketed AFP plasma titre. SH-PAN-19 alleviated the DEN-induced alterations in apoptotic, angiogenic and inflammatory markers. SH-PAN-19 produced a 2.5-folds increase in Caspase-9 and downregulated VEGFR-2, IL-6, TNF-α, TGFβ-1, MMP-9 and CcnD-1 to levels comparable to that elicited by Sorafenib. SH-PAN-19 resulted in near-complete pathological response versus partial response achieved by Sorafenib., Significance: This research illustrated that SH-PAN-19 is a promising chemotherapeutic agent capable of restoring cellular plasticity and could stop HCC progression., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Inc.) more...- Published
- 2024
- Full Text
- View/download PDF
6. Layer-by-Layer Inkjet-Printed Manganese Oxide Nanosheets on Graphene for High-Performance Flexible Supercapacitors.
- Author
-
Belal MA, Yousry R, Taulo G, AbdelHamid AA, Rashed AE, and El-Moneim AA
- Abstract
The widespread adoption of wearable, movable, and implantable smart devices has sparked the evolution of flexible, miniaturized power supplies. High-resolution inkjet printing of flexible microsupercapacitor (μSC) electrodes is a fast, inexpensive, and waste-free alternative manufacturing technology. In this work, a 2D birnessite-type manganese dioxide (δ-MnO
2 ) water-based ink is used to print 10-25 layers of δ-MnO2 symmetrically on a preprinted interdigitated cell consisting of 10 layers of electrochemically exfoliated graphene (EEG). The cell with 10 printed layers of δ-MnO2 achieved the highest specific capacitance, energy density, and power density of 0.44 mF cm-2 , 0.045 μW h cm-2 , and 0.0012 mW cm-2 , respectively. Since inkjet-printing technology supports μSC manufacturing with parallel/series connectivity, four cells were used to study and improve the potential window and capacitance that can be used to construct μSC arrays as power banks. This work provides the first approach for designing an inkjet-printed interdigitated hybrid cell based on δ-MnO2 @EEG that could be a versatile candidate for the large-scale production of flexible and printable electronic devices for energy storage. more...- Published
- 2023
- Full Text
- View/download PDF
7. Fe Nanoparticle Size Control of the Fe-MOF-Derived Catalyst Using a Solvothermal Method: Effect on FTS Activity and Olefin Production.
- Author
-
Rashed AE, Nasser A, Elkady MF, Matsushita Y, and El-Moneim AA
- Abstract
The design of a highly active Fe-supported catalyst with the optimum particle and pore size, dispersion, loading, and stability is essential for obtaining the desired product selectivity. This study employed a solvothermal method to prepare two Fe-MIL-88B metal-organic framework (MOF)-derived catalysts using triethylamine (TEA) or NaOH as deprotonation catalysts. The catalysts were analyzed using X-ray diffraction, N
2 -physisorption, Fourier transform infrared spectroscopy, scanning electron microscopy, transmission electron microscopy, H2 temperature-programed reduction, and thermogravimetric analysis and were evaluated for the Fischer-Tropsch synthesis performance. It was evident that the catalyst preparation in the presence of TEA produces a higher MOF yield and smaller crystal size than those produced using NaOH. The pyrolysis of MOFs yielded catalysts with different Fe particle sizes of 6 and 35 nm for the preparation in the presence of TEA and NaOH, respectively. Also, both types of catalysts exhibited a high Fe loading (50%) and good stability after 100 h reaction time. The smaller particle size TEA catalyst showed higher activity and higher olefin yield, with 94% CO conversion and a higher olefin yield of 24% at a lower reaction temperature of 280 °C and 20 bar at H2 /CO = 1. Moreover, the smaller particle size TEA catalyst exhibited higher Fe time yield and CH4 selectivity but with lower chain growth probability (α) and C5+ selectivity., Competing Interests: The authors declare no competing financial interest., (© 2022 The Authors. Published by American Chemical Society.) more...- Published
- 2022
- Full Text
- View/download PDF
8. Selective Conversion of Syngas to Olefins via Novel Cu-Promoted Fe/RGO and Fe-Mn/RGO Fischer-Tropsch Catalysts: Fixed-Bed Reactor vs Slurry-Bed Reactor.
- Author
-
Nasser AH, El-Bery HM, ELnaggar H, Basha IK, and El-Moneim AA
- Abstract
Fischer-Tropsch has become an indispensable choice in the gas-to-liquid conversion reactions to produce a wide range of petrochemicals using recently emerging biomass or other types of feedstock such as coal or natural gas. Herein we report the incorporation of novel Cu nanoparticles with two Fischer-Tropsch synthesis (FTS) catalytic systems, Fe/reduced graphene oxide (rGO) and Fe-Mn/rGO, to evaluate their FTS performance and olefin productivity in two types of reactors: slurry-bed reactor (SBR) and fixed-bed reactor (FBR). Four catalysts were compared and investigated, namely Fe, FeCu
7 , FeMn10 Cu7 , and FeMn16 , which were highly dispersed over reduced graphene oxide nanosheets. The catalysts were first characterized by transmission electron microscopy (TEM), nitrogen physisorption, X-ray fluorescence (XRF), X-ray diffraction (XRD), and H-TPR techniques. In the SBR, Cu enhanced olefinity only when used alone in FeCu7 without Mn promotion. When used with Mn, the olefin yield was not changed, but light olefins decreased slightly at the expense of heavier olefins. In the FBR system, Cu as a reduction promoter improved the catalyst activity. It increased the olefin yield mainly due to increased activity, even if the CO2 decreased by the action of Cu promoters. The olefinity of the product was improved by Cu promotion but it did not exceed the landmark made by FeMn16 at 320 °C. The paraffinity was also enhanced by Cu promotion especially in the presence of Mn, indicating a strong synergistic effect. Cu was found to be better than Mn in enhancing the paraffin yield, while Mn is a better olefin yield enhancer. Finally, Cu promotion was found to enhance the selectivity towards light olefins C2-4. This study gives a deep insight into the effect of different highly dispersed FTS catalyst systems on the olefin hydrocarbon productivity and selectivity in two major types of FTS reactors., Competing Interests: The authors declare no competing financial interest., (© 2021 The Authors. Published by American Chemical Society.) more...- Published
- 2021
- Full Text
- View/download PDF
9. Bio-Zirconium Metal-Organic Framework Regenerable Bio-Beads for the Effective Removal of Organophosphates from Polluted Water.
- Author
-
Diab KE, Salama E, Hassan HS, El-Moneim AA, and Elkady MF
- Abstract
Organophosphate-based pesticides, such as diazinon, are among the most toxic organic contaminants to human and environment. Effective removal of diazinon from contaminated water sources is critical. Zirconium Metal-organic frameworks (Zr-MOFs) are promising candidates for the removal of organic contaminants from wastewater. Herein, we report the adequacy of a bio based Zr-MOF named MIP-202 for the removal of diazinon from water. On the other hand, the use of these materials in powder form is not workable, the development of scalable and economical processes and integrative of these materials onto beads is paramount for industrial processes. Hence, it was reported a scalable, bio aqueous solution-based preparation strategy for Bio Zr-MOF beads production. The composite material exposed identical reactivity under the same ambient parameters compared to powdered material in an aqueous solution. These results signify a critical procedure to an integrated strategy for organophosphates removal using bio-based MOFs, which demonstrates high potential for manufacturing applications such as continued removal of organophosphates from wastewater supplies. more...
- Published
- 2021
- Full Text
- View/download PDF
10. High-performance asymmetric supercapacitor based hierarchical NiCo 2 O 4 @ carbon nanofibers//Activated multichannel carbon nanofibers.
- Author
-
El-Deen AG, Hussein El-Shafei M, Hessein A, Hassanin AH, Shaalan NM, and El-Moneim AA
- Abstract
Synthesis of rational nanostructure design of hybrid materials including uniformly growing, stable and highly porous structures have received a great deal of attention for many energy storage applications. In this study, the positive electrode of the uniform distribution of NiCo
2 O4 nanorods anchored on carbon nanofibers has been successfully prepared by in-situ growth under the hydrothermal process. Whereas, the activated multichannel carbon nanofibers (AMCNFs) have been fabricated via electrospinning followed by alkaline activation as the negative electrode. The crystal phase, morphological structure for the proposed electrode materials were characterized by x-ray diffraction (XRD), Raman spectroscopy, scanning electron microscopy (SEM), and transmission electron microscopy (TEM). Moreover, the electrochemical behaviors were investigated using cyclic voltammetry (CV), galvanostatic charge and discharge (GCD) and electrochemical impedance spectroscopy (EIS) measurements. Compared to the neat CNFs and the pristine NiCo2 O4 , the NiCo2 O4 @CNFs hybrid electrodes showed better electrochemical performance and achieved a high specific capacitance up to 649 F g-1 at a current density of 3 A g-1 . The optimized NiCo2 O4 @CNFs//AMCNFs asymmetric device achieved a high energy density of 38.5 Wh kg-1 with a power density of 1.6 kW kg-1 and possessed excellent recyclability with 93.1% capacitance retention over 6000 charging/discharging cycles. Overall, the proposed study introduces a facile strategy for the robust design of hybrid structured as effective nanomaterials based electrode for high-performance electrochemical supercapacitors. more...- Published
- 2020
- Full Text
- View/download PDF
11. Free-standing interconnected carbon nanofiber electrodes: new structural designs for supercapacitor application.
- Author
-
El-Shafei MH, Hassanin AH, Shaalan NM, Sharshar T, and El-Moneim AA
- Abstract
This work aims to develop and characterize a new design of free-standing interconnected carbon nanofiber electrodes for supercapacitor application. The fibers are obtained via carbonization of three components of electrospun nanofiber mats based on a polyacrylonitrile polymer (as a carbon backbone precursor), polyvinylalcohol (as a sacrificial copolymer), and 0-1.0 wt% multi-walled carbon nanotubes. Carbonizing these ternary composites results in fibers with about twice as large in surface area and one order of magnitude higher in electrical conductivity than those obtained by the carbonization of neat polyacrylonitrile and/or binary polyacrylonitrile-0-1.0 wt% carbon nanotube mats. The carbonized polyacrylonitrile-polyvinylalcohol-0.3 wt% carbon nanotube mat reveals the highest surface area and electrical conductivity and best capacitive performance. It exhibits energy and power densities of 27.8 Wh kg
-1 and 110.59 kW kg-1 , respectively, and cyclic stability of 95% after 2000 charge-discharge cycles at a charging current of 1.0 Ag-1 . The nanotubes' alignment along the fiber's axis, the formation of fiber-fiber interconnected morphology with more mesopore pollution, and changes in the graphitization degree and defect features of fiber crystallites are the reasons for the observed increase in the electrical conductivity, surface area, and capacitive performance of the carbon fibers. Therefore, the new design represents a potential free-standing carbon nanofiber electrode for future electrochemical double layer capacitor (EDLC) device fabrication. more...- Published
- 2020
- Full Text
- View/download PDF
12. 3D hierarchical graphene/CNT with interfacial polymerized polyaniline nano-fibers.
- Author
-
El-Basaty AB, Moustafa E, Fouda AN, and El-Moneim AA
- Abstract
In this work Polyaniline (PANI) fiber has been synthetized by the interfacial polymerization method. The thermal behavior of graphene - multiwall carbon nanotubes (MWCNs) composite material (C-Mix) blended with PANI fiber was investigated. Graphene was prepared by thermal reduction of the fabricated graphene oxide (GO) using modified Hummers' method. SEM measurement reveals that MWCNTs were well organized within 2D large surface area graphene nano-sheets to form 3D carbon-base hierarchical structure, and PANI was mixed as a binder polymer matrix. Structural measurements confirm the formation of wide area graphene sheets with crumples, wrinkles, and folds around the edges. Transmission electron microscopy (TEM) images agreed with the well distribution of CNTs within graphene nano-sheets. Also, the surface morphology of the synthesized composites has a spherical regular agglomeration of PANI granular structure on wide area graphene nano sheets with CNT embedded. The change in the existed phonon modes of the fabricated nano-composite was analyzed using Raman spectroscopy. Moreover, Seebeck coefficient changes from +132.4 μV/K to -10.3 μV/K after adding carbon-based materials which reflects the reverse of predominate carriers by doping PANI with carbon-based material. It has been noticed that there is an enhancement of thermal conductivity of the fabricated composite with respect to neat polymer. Hence, we propose that 3D carbon structure with PANI construct a stable N-Type thermoelectric material., (Copyright © 2019 Elsevier B.V. All rights reserved.) more...
- Published
- 2020
- Full Text
- View/download PDF
13. A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
- Author
-
Vu PY, Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, and Taine L
- Subjects
- Abnormalities, Multiple diagnosis, Amino Acid Sequence, Base Sequence, Child, Chromosome Breakpoints, Coloboma diagnosis, Fetal Macrosomia diagnosis, Gene Expression Profiling, Head abnormalities, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability diagnosis, Karyotype, Male, Megalencephaly diagnosis, Molecular Sequence Data, Mutation, Obesity diagnosis, Open Reading Frames, Phenotype, Abnormalities, Multiple genetics, Coloboma genetics, Fetal Macrosomia genetics, Genetic Predisposition to Disease, Homozygote, Intellectual Disability genetics, Megalencephaly genetics, Obesity genetics, RNA, Long Noncoding genetics, Translocation, Genetic
- Abstract
Macrosomia, obesity, macrocephaly, and ocular abnormalities syndrome (MOMO syndrome) has been reported in only four patients to date. In these sporadic cases, no chromosomal or molecular abnormality has been identified thus far. Here, we report on the clinical, cytogenetic, and molecular findings in a child of healthy consanguineous parents suffering from MOMO syndrome. Conventional karyotyping revealed an inherited homozygous balanced reciprocal translocation (16;20)(q21;p11.2). Uniparental disomy testing showed bi-parental inheritance for both derivative chromosomes 16 and 20. The patient's oligonucleotide array-comparative genomic hybridization profile revealed no abnormality. From the homozygous balanced reciprocal translocation (16;20)(q21;p11.2), a positional cloning strategy, designed to narrow 16q21 and 20p11.2 breakpoints, revealed the disruption of a novel gene located at 20p11.23. This gene is now named LINC00237, according to the HUGO (Human Genome Organization) nomenclature. The gene apparently leads to the production of a non-coding RNA. We established that LINC00237 was expressed in lymphocytes of control individuals while normal transcripts were absent in lymphocytes of our MOMO patient. LINC00237 was not ubiquitously expressed in control tissues, but it was notably highly expressed in the brain. Our results suggested autosomal recessive inheritance of MOMO syndrome. LINC00237 could play a role in the pathogenesis of this syndrome and could provide new insights into hyperphagia-related obesity and intellectual disability., (Copyright © 2012 Wiley Periodicals, Inc.) more...
- Published
- 2012
- Full Text
- View/download PDF
14. Survey of skin disorders in newborns: clinical observation in an Egyptian medical centre nursery.
- Author
-
El-Moneim AA and El-Dawela RE
- Subjects
- Cohort Studies, Dermatitis epidemiology, Egypt epidemiology, Female, Humans, Infant, Newborn, Male, Nevus, Pigmented epidemiology, Prospective Studies, Skin Diseases congenital, Skin Diseases, Infectious epidemiology, Skin Diseases epidemiology
- Abstract
The frequency of neonatal skin disorders has not been well studied in Egypt. Our aim was to address patterns of dermatological changes in a sample of Egyptian newborns. In a descriptive prospective cohort study 600 newborns in Sohag University hospital nursery were dermatologically examined within the first 5 days of birth. Skin disorders were detected in 240 neonates (40.0%). Birthmarks were found in 100 neonates (16.7%), mainly melanocytic type (mongolian spots in 11.7% and congenital melanocytic naevi in 2.7%). Fungal skin infections, including oral moniliasis, fungal infection in the napkin area or candidal intertrigo, were detected in 13.3% and bacterial infections in 1.3% of neonates. Comparisons with other studies worldwide indicated a higher rate of fungal infections and lower rate of birthmarks in our study. Routine neonatal dermatological evaluation is recommended, especially in view of the high rate of fungal skin infections. more...
- Published
- 2012
- Full Text
- View/download PDF
15. Essential versus reactive thrombocythemia in children: retrospective analyses of 12 cases.
- Author
-
El-Moneim AA, Kratz CP, Böll S, Rister M, Pahl HL, and Niemeyer CM
- Subjects
- Adolescent, Age Distribution, Child, Child, Preschool, Chronic Disease, Female, Humans, Janus Kinase 2 genetics, Janus Kinase 2 metabolism, Male, Primary Myelofibrosis therapy, Retrospective Studies, Thrombocythemia, Essential therapy, Time Factors, Primary Myelofibrosis diagnosis, Thrombocythemia, Essential diagnosis
- Abstract
Background: Essential thrombocythemia (ET) rarely occurs in the pediatric population and little is known about the clinical course and the molecular characteristics., Procedure: In this retrospective multi-institutional study we examine the clinical, hematological, and molecular features of 12 children aged 5-16 years with thrombocytosis and a suspected diagnosis of ET., Results: Median follow-up was 59 months (range 10-72). Seven patients presented with clinical symptoms potentially related to thrombocytosis. The remaining five patients were diagnosed incidentally. Median platelet count at diagnosis was 1,325 x 10(9)/L (range 600-3,050). In 11 out of 12 cases bone marrow morphology was consistent with ET, the remaining patient had chronic idiopathic myelofibrosis. Cytogenetic analyses were normal in all studied cases and only one out of nine analyzed cases harbored a JAK(V617F) allele. Within 6 months after initial presentation one patient who was initially asymptomatic developed thrombosis and another patient had mild bleeding. Eight patients were treated with acetylsalicylic acid, one patient received hydroxyurea, and two patients received anagrelide. At last follow-up, all patients were alive and none had developed leukemia. Five patients experienced hematological remission. Two children had not received any therapy. During the course of their disease, nine patients developed symptoms possibly attributable to an elevated platelet count., Conclusions: In JAK2 mutation negative cases, long-term follow-up is helpful to distinguish between primary and secondary thrombocytosis. Secondary cases are not associated with organomegaly but may present with unspecific symptoms. Indications for treatment in children remain unclear. more...
- Published
- 2007
- Full Text
- View/download PDF
16. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.
- Author
-
Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, and Arveiler B
- Subjects
- CREB-Binding Protein, Exons genetics, Female, Gene Dosage, Genetic Markers genetics, Heterozygote, Humans, Male, Microsatellite Repeats genetics, Phenotype, Computer Systems, Gene Deletion, Nuclear Proteins genetics, Polymerase Chain Reaction methods, Rubinstein-Taybi Syndrome genetics, Trans-Activators genetics
- Abstract
Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome characterized by facial abnormalities, broad thumbs, broad big toes, and growth and mental retardation as the main clinical features. RTS was shown to be associated with disruption of the CREB-binding protein gene CBP (CREBBP), either by gross chromosomal rearrangements or by point mutations. Translocations and inversions involving chromosome band 16p13.3 form the minority of CBP mutations, whereas microdeletions occur more frequently (about 10%). Most deletion studies in RTS are performed by FISH analysis, and five cosmids must be used to cover the whole of the CBP gene, which spreads over 150 kb. Here we report the design of gene dosage assays by real-time quantitative PCR that are targeted on three exons located respectively at the 5' end (exon 2), in the middle (exon 12), and at the 3' end (exon 30) of the CBP gene. This technique proved to be efficient and powerful in finding deletions and complementary to the other available techniques, since it allowed us to identify deletions at the 3' end of the gene that had been missed by FISH analysis, and to refine some deletion breakpoints. Our results therefore suggest that real-time quantitative PCR is a useful technique to be included in the deletion search in RTS patients., (Copyright 2004 Wiley-Liss, Inc.) more...
- Published
- 2004
- Full Text
- View/download PDF
17. The common fragile site FRA16C does not map within the 16q smallest region of overlap number 2 frequently lost in breast carcinoma.
- Author
-
Taine L, Rocca-Serra P, El Moneim AA, Verdier N, Moradkhani K, Saura R, Gorry P, Longy M, and Bonnet F
- Subjects
- Chromosome Fragile Sites, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Loss of Heterozygosity, Breast Neoplasms genetics, Chromosome Fragility, Chromosomes, Human, Pair 16, Gene Deletion
- Published
- 2003
- Full Text
- View/download PDF
18. Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.
- Author
-
Goizet C, Excoffier E, Taine L, Taupiac E, El Moneim AA, Arveiler B, Bouvard M, and Lacombe D
- Subjects
- Adolescent, Autistic Disorder pathology, Female, Humans, In Situ Hybridization, Fluorescence, Autistic Disorder genetics, Chromosome Deletion, Chromosomes, Human, Pair 22 genetics
- Abstract
Autism is a rare neurodevelopmental disorder with a strong genetic component. Co-occurrence of autism and chromosomal abnormalities is useful to localize candidate regions that may include gene(s) implicated in autism determinism. Several candidate chromosomal regions are known, but association of chromosome 22 abnormalities with autism is unusual. We report a child with autistic syndrome and a de novo 22q13.3 cryptic deletion detected by FISH. Previously described cases with 22q13.3 deletions shared characteristic developmental and speech delay, but autism was not specifically reported. This case emphasizes a new candidate region that may bear a gene involved in autism etiopathogenesis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:839-844, 2000., (Copyright 2000 Wiley-Liss, Inc.) more...
- Published
- 2000
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.