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3. Association between relative age at school and persistence of ADHD in prospective studies: an individual participant data meta-analysis

Author

Gosling, Corentin J, Caparos, Serge, Pinabiaux, Charlotte, Schwarzer, Guido, Rücker, Gerta, Agha, Sharifah S, Alrouh, Hekmat, Ambler, Antony, Anderson, Peter, Andiarena, Ainara, Arnold, L Eugene, Arseneault, Louise, Asherson, Philip, Babinski, Leslie, Barbati, Vittoria, Barkley, Russel, Barros, Aluisio J D, Barros, Fernando, Bates, John E, Bell, Laura J, Berenguer, Carmen, van Bergen, Elsje, Biederman, Joseph, Birmaher, Boris, B⊘e, Tormod, Boomsma, Dorret I, Brandt, Valerie C, Bressan, Rodrigo A, Brocki, Karin, Broughton, Thomas R, Bufferd, Sara J, Bussing, Regina, Cao, Meng, Cartigny, Ariane, Casas, Ana Miranda, Caspi, Avshalom, Castellanos, F Xavier, Caye, Arthur, Cederkvist, Luise, Collishaw, Stephan, Copeland, William E, Cote, Sylvana M, Coventry, William L, Debes, Nanette M.M. Mol, Denyer, Hayley, Dodge, Kenneth A, Dogru, Hicran, Efron, Daryl, Eller, Jami, Abd Elmaksoud, Marwa, Ercan, Eyup Sabri, Faraone, Stephen V, Fenesy, Michelle, Fernández, Mariana F, Fernández-Somoano, Ana, Findling, Robert, Fombonne, Eric, Fossum, Ingrid N, Freire, Carmen, Friedman, Naomi P, Fristad, Mary A, Galera, Cedric, Garcia-Argibay, Miguel, Garvan, Cynthia S, González-Safont, Llúcia, Groenman, Annabeth P, Guxens, Mònica, Halperin, Jeffrey M, Hamadeh, Randah R, Hartman, Catharina A, Hill, Shirley Y, Hinshaw, Stephen P, Hipwell, Alison, Hokkanen, Laura, Holz, Nathalie, Íñiguez, Carmen, Jahrami, Haitham A, Jansen, Pauline W, Jónsdóttir, Lilja K, Julvez, Jordi, Kaiser, Anna, Keenan, Kate, Klein, Daniel N, Klein, Rachel G, Kuntsi, Jonna, Langfus, Joshua, Langley, Kate, Lansford, Jennifer E, Larsen, Sally A, Larsson, Henrik, Law, Evelyn, Lee, Steve S, Lertxundi, Nerea, Li, Xiaobo, Li, Yueling, Lichtenstein, Paul, Liu, Jianghong, Lundervold, Astri J, Lundström, Sebastian, Marks, David J, Martin, Joanna, Masi, Gabriele, Matijasevich, Alicia, Melchior, Maria, Moffitt, Terrie E, Monninger, Maximilian, Morrison, Claire L, Mulraney, Melissa, Muratori, Pietro, Nguyen, Phuc T, Nicholson, Jan M, Øie, Merete Glenne, O'Neill, Sarah, O'Connor, Cliodhna, Orri, Massimiliano, Pan, Pedro M, Pascoe, Leona, Pettit, Gregory S, Price, Jolie, Rebagliato, Marisa, Riaño-Galán, Isolina, Rohde, Luis A, Roisman, Glenn I, Rosa, Maria, Rosenbaum, Jerrold F, Salum, Giovanni A, Sammallahti, Sara, Santos, Ina S, Schiavone, Nella S, Schmid, Lorrie, Sciberras, Emma, Shaw, Philip, Silk, Tim J, Simpson, Jeffry A, Skogli, Erik W, Stepp, Stephanie, Strandberg-Larsen, Katrine, Sudre, Gustavo, Sunyer, Jordi, Tandon, Mini, Thapar, Anita, Thomson, Phoebe, Thorell, Lisa B, Tinchant, Hannah, Torrent, Maties, Tovo-Rodrigues, Luciana, Tripp, Gail, Ukoumunne, Obioha, Van Goozen, Stephanie HM, Vos, Melissa, Wallez, Solène, Wang, Yufeng, Westermaier, Franz G, Whalen, Diana J, Yoncheva, Yuliya, Youngstrom, Eric A, Sayal, Kapil, Solmi, Marco, Delorme, Richard, and Cortese, Samuele

Published
2023
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7. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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8. A homozygous nonsense variant in the alternatively spliced VLDLRexon 4 causes a neurodevelopmental disorder without features of VLDLRcerebellar hypoplasia

Author

Holling, Tess, Abdelrazek, Ibrahim M., Elhady, Ghada M., Abd Elmaksoud, Marwa, Ryu, Seung Woo, Abdalla, Ebtesam, and Kutsche, Kerstin

Abstract

VLDLRcerebellar hypoplasia is characterized by intellectual disability, non-progressive cerebellar ataxia, and seizures. The characteristic MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified cortical gyration, and a small brain stem. Biallelic VLDLRpathogenic variants cause loss-of-function of the encoded very low-density lipoprotein receptor. VLDLRexons 4 and 16 are alternatively spliced, resulting in the expression of four transcript variants, including two exon 4-lacking mRNAs expressed in the human brain. Previously reported VLDLRpathogenic variants affect all four transcript variants. Here we report on two sisters with facial dysmorphism, microcephaly, intellectual disability, and normal brain imaging. Exome sequencing in one patient identified the homozygous VLDLRnonsense variant c.376C>T; p.(Gln126*) in exon 4; her similarly affected sister also carried the homozygous variant and parents were heterozygous carriers. VLDLRtranscript analysis identified mRNAs with and without exon 4 in patient fibroblasts, while exon 4-containing VLDLRmRNAs were predominantly detected in control fibroblasts. We found significantly reduced VLDLRmRNA levels in patient compared to control cells, likely caused by nonsense-mediated mRNA decay of exon 4-containing VLDLRtranscripts. Expression of neuronal VLDLR isoforms produced from exon 4-lacking transcripts may have protected both patients from developing the cerebellar hypoplasia phenotype.

Published
2024
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11. Laboratory markers of central nervous system disease activity in children with hemophagocytic lymphohistiocytosis.

Author

Abd Elmaksoud, Marwa S., Elhalawany, Amina S., Mikhael, Neveen L., ElKazaz, Rana M., Elsharkawy, Asmaa M., Gamaleldin, Marwa A., and El Chazli, Yasmine F.

Subjects
*CENTRAL nervous system, *HEMOPHAGOCYTIC lymphohistiocytosis, *CEREBROSPINAL fluid, *LEUCOCYTES, *FERRITIN
Abstract

Background Central nervous system (CNS) disease among patients with hemophagocytic lymphohistiocytosis (HLH) has not been standardized, which complicates the study of CNS-HLH and its management. Aims To investigate cerebrospinal fluid (CSF) ferritin, triglycerides (TG), and lactate dehydrogenase (LDH) levels as laboratory markers of CNS-HLH. Settings and design A study was conducted on available frozen pretreatment CSF samples of children treated for HLH. Inclusion criteria were children younger than 18 years, fulfilled at least five of the HLH-2004 diagnostic criteria, their frozen initial CSF sample was available, and all necessary clinical, radiological, and laboratory data were available. Patients and methods TG, ferritin, and LDH were measured in the CSF samples. CNS disease was positive if abnormal neurologic symptom/sign, abnormal CSF analysis (pleocytosis and/or elevated protein), or abnormal neuroimaging. Results Of 101 children with HLH, 33 met the inclusion criteria. Their age ranged from 1.1 to 196 months at diagnosis with a median of 13.5 months. The majority were females (69.7%). Seven patients were negative for CNS-HLH (19.4%) and 29 (80.6%) patients were positive according to the classical CNS-HLH criteria. At the end of the follow-up, 45% of patients had died. Significant correlations were found between CSF TG and both CSF protein and leukocytes (P=0.036 for both), and between CSF TG and serum ferritin (P=0.037). Only ferritin showed a significant correlation between its serum and CSF levels (P<0.0001). CSF ferritin and LDH were higher in nonsurvivors. Conclusions CSF TG may have a diagnostic value as a marker of CNS-HLH, whereas CSF ferritin and LDH may have a prognostic value. Further larger prospective studies are needed to verify these preliminary findings. [ABSTRACT FROM AUTHOR]

Published
2022
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12. Breastfeeding and autism spectrum disorder: a cross-sectional study from Egypt.

Author

Abd Elmaksoud, Marwa S., Aly, Omneya, Abd Elfatah, Magdy, and Mahfouz, Aml

Subjects
*BREASTFEEDING, *AUTISM in children, *AUTISM spectrum disorders, *SIBLINGS, *INTELLIGENCE levels
Abstract

Background Breastfeeding (BF) was suggested as an environmental factor that may confer a protective role against autism. Aim The primary aim was to compare the patterns of BF in children with autism spectrum disorder (ASD) with their typically developing siblings. The secondary objective was to conduct a pilot study to investigate the effect of BF on the severity of the core ASD symptoms and the intellectual functions among children with ASD. Patients and methods A comparative cross-sectional study was conducted at the Outpatient Clinic of Alexandria University Children's Hospital on 100 children; 50 children with ASD (group A, n=50) and 50 typically developing children; siblings of children of group A (group B, n=50) using a designed semistructured questionnaire. Results The comparison between both groups revealed that neither BF ever, early initiation, prolonged duration, nor exclusive BF were statistically different in children with autism and their siblings. Among children with ASD, there was a significant positive relationship between early BF initiation and less severe core symptoms of autism on Childhood Autism Rating Scale scores (U=405, P=0.017) and better intellectual functions on intelligence quotient score (U=18, P=0.03). Exclusive BF had a weak significant positive correlation (r=0.31, P=0.03) with higher intellectual functions on the intelligence quotient score. Conclusion In conclusion, BF practices are not linked to autism in children at risk. However, because early BF initiation is connected to less severe ASD core symptoms, our study implies that BF can be regarded a predictive factor of optimal outcomes for children with ASD. Future research with a prospective design and a large sample size could aid in establishing a cause-and-effect relationship. [ABSTRACT FROM AUTHOR]

Published
2022
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13. A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

Author

Holling T, Abdelrazek IM, Elhady GM, Abd Elmaksoud M, Ryu SW, Abdalla E, and Kutsche K

Abstract

VLDLR cerebellar hypoplasia is characterized by intellectual disability, non-progressive cerebellar ataxia, and seizures. The characteristic MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified cortical gyration, and a small brain stem. Biallelic VLDLR pathogenic variants cause loss-of-function of the encoded very low-density lipoprotein receptor. VLDLR exons 4 and 16 are alternatively spliced, resulting in the expression of four transcript variants, including two exon 4-lacking mRNAs expressed in the human brain. Previously reported VLDLR pathogenic variants affect all four transcript variants. Here we report on two sisters with facial dysmorphism, microcephaly, intellectual disability, and normal brain imaging. Exome sequencing in one patient identified the homozygous VLDLR nonsense variant c.376C>T; p.(Gln126*) in exon 4; her similarly affected sister also carried the homozygous variant and parents were heterozygous carriers. VLDLR transcript analysis identified mRNAs with and without exon 4 in patient fibroblasts, while exon 4-containing VLDLR mRNAs were predominantly detected in control fibroblasts. We found significantly reduced VLDLR mRNA levels in patient compared to control cells, likely caused by nonsense-mediated mRNA decay of exon 4-containing VLDLR transcripts. Expression of neuronal VLDLR isoforms produced from exon 4-lacking transcripts may have protected both patients from developing the cerebellar hypoplasia phenotype., (© 2024. The Author(s).)

Published
2024
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14. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Author

Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M, Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, and Hoischen A

Abstract

Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural variants (SVs), single nucleotide variants (SNVs), insertion-deletions (InDels), and short tandem repeat (STR) expansions in extensively studied RD families without clear molecular diagnoses. Our cohort includes 293 individuals from 114 genetically undiagnosed RD families selected by European Rare Disease Network (ERN) experts. Of these, 21 families were affected by so-called 'unsolvable' syndromes for which genetic causes remain unknown, and 93 families with at least one individual affected by a rare neurological, neuromuscular, or epilepsy disorder without genetic diagnosis despite extensive prior testing. Clinical interpretation and orthogonal validation of variants in known disease genes yielded thirteen novel genetic diagnoses due to de novo and rare inherited SNVs, InDels, SVs, and STR expansions. In an additional four families, we identified a candidate disease-causing SV affecting several genes including an MCF2 / FGF13 fusion and PSMA3 deletion. However, no common genetic cause was identified in any of the 'unsolvable' syndromes. Taken together, we found (likely) disease-causing genetic variants in 13.0% of previously unsolved families and additional candidate disease-causing SVs in another 4.3% of these families. In conclusion, our results demonstrate the added value of HiFi long-read genome sequencing in undiagnosed rare diseases.

Published
2024
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15. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Author

Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, and Houlden H

Subjects
Animals, Humans, Drosophila melanogaster genetics, GTP Phosphohydrolases genetics, Phenotype, Drosophila Proteins genetics, GTP-Binding Proteins genetics, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders genetics
Abstract

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2024
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