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560 results on '"Malik, Sajid"'

2. Laparoscopic Sleeve Gastrectomy

Author

Malik, Sajid, Wijerathne, Sujith, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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3. Robotic Surgery: Operating Room Setup and Docking

Author

Malik, Sajid, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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4. Endo-laparoscopic Repair of Lateral Ventral Hernia

Author

Kit, James Lee Wai, Malik, Sajid, Wijerathne, Sujith, Lomanto, Davide, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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5. Role of Botulinum Toxin-A in Chemical Component Separation Technique

Author

Malik, Sajid, Lomanto, Davide, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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6. Laparoscopic Intraperitoneal Onlay Mesh (IPOM) and IPOM Plus

Author

Malik, Sajid, Wijerathne, Sujith, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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7. Laparoscopic Management of Recurrent and Re-recurrent Hernia

Author

Malik, Sajid, Kit, James Lee Wai, Wijerathne, Sujith, Lomanto, Davide, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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8. Transabdominal Pre-peritoneal Approach (TAPP)

Author

Malik, Sajid, Wijerathne, Sujith, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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9. Surgical Smoke: Risks and Mitigation Strategies

Author

Malik, Sajid, Khairi, Farah, Wijerathne, Sujith, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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10. Electrosurgery and Energy Devices

Author

Malik, Sajid, Khairi, Farah, Wijerathne, Sujith, Lomanto, Davide, editor, Chen, William Tzu-Liang, editor, Fuentes, Marilou B., editor, Lee-Ong, Alembert, Section Editor, Rose Nery, Emily, Section Editor, Lawenko, Michael, Section Editor, Sta. Clara, Eva Lourdes, Section Editor, Fuentes, Marilou Blancos, Section Editor, Tang, Siau Wei, Section Editor, Agarwal, Narendra, Section Editor, Shabbir, Asim, Section Editor, Rao, Jaideep, Section Editor, Goel, Rajat, Section Editor, Anh Tuan, Le Quan, Section Editor, Chua, Henry, Section Editor, Gupta, Rakesh, Section Editor, Imamura, Kiyotaka, Section Editor, Lauro, Enrico, Section Editor, Salgaonkar, Hrisikesh, Section Editor, and Malik, Sajid, Section Editor

Published
2023
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11. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

Author

Xu, Caixia, Yang, Xiaoming, Zhou, Hang, Li, Yongyong, Xing, Chao, Zhou, Taifeng, Zhong, Dongmei, Lian, Chengjie, Yan, Mei, Chen, Tao, Liao, Zhiheng, Gao, Bo, Su, Deying, Wang, Tingting, Sharma, Swarkar, Mohan, Chandra, Ahituv, Nadav, Malik, Sajid, Li, Quan-Zhen, and Su, Peiqiang

Subjects
Human Genome, Genetics, 2.1 Biological and endogenous factors, Aetiology, Animals, Caco-2 Cells, Disease Models, Animal, Female, Gene Knock-In Techniques, HEK293 Cells, Hedgehog Proteins, Heterogeneous-Nuclear Ribonucleoprotein K, Humans, Introns, Limb Buds, Male, Membrane Proteins, Mice, Mice, Transgenic, Pedigree, Polydactyly, Polymorphism, Single Nucleotide, Thumb, Up-Regulation, preaxial polydactyly, ZRS, sonic hedgehog, gene regulation, Clinical Sciences, Genetics & Heredity
Abstract

PurposePreaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I-IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types. However, the genes responsible for PPD I and the underlying mechanisms are unknown.MethodsA rare large four-generation family with isolated PPD I was subjected to genome-wide genotyping and sequence analysis. In vitro and in vivo functional studies were performed in Caco-2 cells, 293T cells, and a knockin transgenic mouse model.ResultsA novel g.101779T>A (reference sequence: NG_009240.2; position 446 of the ZRS) variant segregates with all PPD I-affected individuals. The knockin mouse with this ZRS variant exhibited PPD I phenotype accompanying ectopic and excess expression of Shh. We confirmed that HnRNP K can bind the ZRS and SHH promoters. The ZRS mutant enhanced the binding affinity for HnRNP K and upregulated SHH expression.ConclusionOur results identify the first PPD I disease-causing variant. The variant leading to PPD I may be associated with enhancing SHH expression mediated by HnRNP K. This study adds to the ZRS-associated syndromes classification system for PPD and clarifies the underlying molecular mechanisms.

Published
2020

23. Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries

Author

Glasbey, James C, Abbott, Tom EF, Ademuyiwa, Adesoji, Adisa, Adewale, AlAmeer, Ehab, Alshryda, Sattar, Arnaud, Alexis P, Bankhead-Kendall, Brittany, Abou Chaar, M K, Chaudhry, Daoud, Costas-Chavarri, Ainhoa, Cunha, Miguel F, Davies, Justine I, Desai, Anant, Elhadi, Muhammed, Fiore, Marco, Fitzgerald, James Edward, Fourtounas, Maria, Fowler, Alex James, Futaba, Kay, Gallo, Gaetano, Ghosh, Dhruva, Gujjuri, Rohan R, Hamilton, Rebecca, Haque, Parvez, Harrison, Ewen M, Hutchinson, Peter, Hyman, Gabriella, Isik, Arda, Jayarajah, Umesh, Kaafarani, Haytham MA, Kadir, Bryar, Lawani, Ismail, Lederhuber, Hans, Li, Elizabeth, Löffler, Markus W, Lorena, Maria Aguilera, Mann, Harvinder, Martin, Janet, Mazingi, Dennis, McClain, Craig D, McLean, Kenneth A, Meara, John G, Ramos-De La Medina, Antonio, Mengesha, Mengistu, Minaya, Ana, Modolo, Maria Marta, Moore, Rachel, Morton, Dion, Nepogodiev, Dmitri, Ntirenganya, Faustin, Pata, Francesco, Pearse, Rupert, Picciochi, Maria, Pinkney, Thomas, Pockney, Peter, van Ramshorst, Gabrielle H, Richards, Toby, Roslani, April Camilla, Satoi, Sohei, Sayyed, Raza, Shaw, Richard, Simões, Joana FF, Smart, Neil, Sullivan, Richard, Sund, Malin, Sundar, Sudha, Tabiri, Stephen, Taylor, Elliott H, Venn, Mary L, Wickramasinghe, Dakshitha, Wright, Naomi, Yip, Sebastian Bernardo Shu, Bhangu, Aneel, Omar, Omar, Harrison, Ewen, Bhangu, Aneel A, Siaw-Acheampong, Kwabena, Benson, Ruth A, Bywater, Edward, Dawson, Brett E, Evans, Jonathan P, Heritage, Emily, Jones, Conor S, Kamarajah, Sivesh K, Khatri, Chetan, Khaw, Rachel A, Keatley, James M, Knight, Andrew, Lawday, Samuel, Mann, Harvinder S, Marson, Ella J, Mckay, Siobhan C, Mills, Emily C, Pellino, Gianluca, Tiwari, Abhinav, Trout, Isobel M, Wilkin, Richard JW, Abukhalaf, Sadi, Adamina, Michel, Ademuyiwa, Adesoji O, Agarwal, Arnav, Akkulak, Murat, Alameer, Ehab, Alderson, Derek, Alakaloko, Felix, Albertsmeier, Markus, Alser, Osaid, Alshaar, Muhammad, Augestad, Knut Magne, Ayasra, Faris, Azevedo, José, Bankhead-Kendall, Brittany K, Barlow, Emma, Beard, David, Blanco-Colino, Ruth, Brar, Amanpreet, Minaya-Bravo, Ana, Breen, Kerry A, Bretherton, Chris, Buarque, Igor Lima, Burke, Joshua, Caruana, Edward J, Chaar, Mohammad, Chakrabortee, Sohini, Christensen, Peter, Cox, Daniel, Cukier, Moises, Davidson, Giana H, Di Saverio, Salomone, Drake, Thomas M, Edwards, John G, Emile, Sameh, Farik, Shebani, Ford, Samuel, Garmanova, Tatiana, Gomes, Gustavo Mendonça Ataíde, Grecinos, Gustavo, Griffiths, Ewen A, Gruendl, Magdalena, Halkias, Constantine, Hisham, Intisar, Hutchinson, Peter J, Hwang, Shelley, Jenkinson, Michael D, Jonker, Pascal, Keller, Debby, Kolias, Angelos, Kruijff, Schelto, Leventoglu, Sezai, Litvin, Andrey, Loehrer, Andrew, Major, Piotr, Mashbari, Hassan N, Metallidis, Symeon, Mohan, Helen M, Moszkowicz, David, Moug, Susan, Ng-Kamstra, Joshua S, Maimbo, Mayaba, Negoi, Ionut, Niquen, Milagros, Olivos, Maricarmen, Oussama, Kacimi, Outani, Oumaima, Parreno-Sacdalanm, Marie Dione, Rivera, Carlos Jose Perez, Pinkney, Thomas D, Plas, Willemijn van der, Qureshi, Ahmad, Radenkovic, Dejan, Revell, Elliot J, Roberts, Keith, Roslani, April C, Rutegård, Martin, Segura-Sampedro, Juan José, Santos, Irène, Schache, Andrew, Schnitzbauer, Andreas A, Seyi-Olajide, Justina O, Sharma, Neil, Shaw, Catherine A, Shu, Sebastian, Soreide, Kjetil, Spinelli, Antonino, Stewart, Grant D, Townend, Philip, Tsoulfas, Georgios, Vidya, Raghavan, Vimalachandran, Dale, Warren, Oliver J, Wedderburn, Duane, EuroSurg, NA, European Society of Coloproctology (ESCP), NA, Global Initiative for Children's Surgery, NA, GlobalSurg, NA, GlobalPaedSurg, NA, ItSURG, NA, PTSurg, NA, SpainSurg, NA, Italian Society of Colorectal Surgery, NA, Association of Surgeons in Training, NA, Irish Surgical Research Collaborative (ISRC), NA, Transatlantic Australasian Retroperitoneal Sarcoma Working, NA, Italian Society of Surgical Oncology, NA, Booth, Lesley, Barker, Margaret, Barker, Neil, Cooke, Shirley, Doré, Suzanne, Horwood, Nigel, Runigamugabo, Emmy, Weir, Carrie Tierney, Bahrami-Hessari, Mike, Riaz, Asad, Shah, Jaffer, Safi, Mohammed, Thereska, Dariel, Dajti, Irida, Cheddadi, Riadh, Tidjane, Anisse, Quinteros, Carlos A, khelfaoui, Ahmed, Salem, Khalifa M, Riffi, Omar, Kacimi, Salah Eddine O, Loudjedi, Salim, Damerdji, Tidjani, Pantoja Pachajoa, Diana A, Palacios Huatuco, René M, Alvarez, Fernando A, Doniquian, Alejandro M, Abeldaño Zuñiga, Roberto A, Schlottmann, Francisco, Cobos, Carlos M, Gigena, Cecilia, Forneris, Agustin Albani, Duro, Agustin, García-Mansilla, Agustín M, Busnelli, Virginia Cano, Poggi, Catalina, Mercado, Pedro L, González, Marcos, Castro Lalin, Agustina F, Mayer, Horacio F, Brandariz, Rodrigo, Slullitel, Pablo A, Boudou, Rocio, Lobos, Pablo A, Uffelmann, María C, Petersen, Maria L, Luzzi, Emilia, Padilla Lichtenberger, Fernando L, Crespi Amor, María S, Zarratea, Celeste S, Esteves, Tomas A, Gemelli, Nicolas A, Tirapegui, Sebastián, Liyo, Juan, Scherñuk, Jordán, Boccalatte, Luis A, Balmaceda, Ruben D, D'Addino, Jose L, Caubet, María M, Calderón Arancibia, José A, Chwat, Carina, Morris, Brian, Avellaneda, Nicolas, Pedraza Salazar, Ivana I, Eskinazi, Diego G, Vargas, Lara, Muriel, María E, Lucchini, Sergio M, Gosselink, Martijn P, Davis, Amelia L, Barker, John C, Qin, Kirby R, Proud, David M, Cox, Daniel RA, Goh, Su Kah, Liu, David S, Wu, Damien M, Merrett, Neil D, Badiani, Sarit S, Sengupta, Shomik, Jain, Anshini, Steen, Christopher J, Wong, Enoch, Ip, Christopher CK, Leaning, Matthew G, McCartney, Conor B, Gananadha, Sivakumar, Yeap, Evie FW, Stevens, Sean G, Vu, Anh N, Martin, Sarah A, Stanley, Guy H M, Watson, David I, Townend, Philip J, Young, Thomas K, Cox, Georgia T, Dawson, Amanda C, Laura, Sharon E, Lun, Elizabeth W Y, Liang, Ina X, O'Neill, Christine J, Lott, Natalie J, Chuan, Alwin, Saravanan, SK, Gundara, Justin, Ong, Bee Shan, Nataraja, Ramesh M, Pacilli, Maurizio, Foley, Daniel M, Ooi, Geraldine J, Traeger, Luke, MacDermid, Ewan, Daruwalla, Jurstine, Hodgson, Russell, Heriot, Alexander G, Mulligan, Christopher S, Blefari, Nicholas D A, Purcell, Shaun S, Frankel, Adam J, Guerra, Glen R, Tefay, Joan S, Liang, Rhea W Y, Kroon, Hidde M, Farfus, Anthony W, Warren, Leigh R, Roy, Jennifer M, Whitfield, Robert J, Moller, Cea-Cea B, Davis, Sean S, Sammour, Tarik, Lam, Yick Ho, Kour, Kevin, Gan, Siang Wei, Coventry, Brendon J, Dawson, Joseph A, Batstone, Martin D, King, Sebastian K, Scott, Nathan J, Foo, Jonathan W, Shepherd, Talia, Page, Richard S, Choong, Peter F, Badgery, Henry E, Chong, Lynn, Taylor, Lillian, Hii, Michael W, Wright, Gavin M, Kong, Joseph CH, Watson, Matthew M, Bock, Jacob, Lidder, Surjit S, Elias, Patrick, Kanavathy, Sathisvaran, Koh, Cherry E, Chennakesavan, Srinivas Kondalsamy, Panuganti, Vishwakar, Latif, Haider, Yeung, Justin MC, Besson, Alex J, Tse, Eunice Q Y, Pitcher, Meron E, Taylor, Danielle L, Nahm, Christopher B, Lim, Alicia, Tree, Kevin, Aigner, Felix, Dawoud, Christopher, Foessleitner, Philipp, Zimmermann, Matthias, Wiedemann, Dominik, Findl, Oliver, Messner, Franka, Bauer, Marlies, Nägele, Felix, Kronberger, Irmgard E, Öfner, Dietmar, Härter, Bettina, Bicz, Nina Ru B, Zwittag, Paul M, Poier, Nikolaus, Navarro, Francisco Ruiz, Zebuhr, Yorck A, Köglberger, Paul, Wiesinger, Clemens G, Mathew, Erwin, Trivik-Barrientos, Felipe, Königsrainer, Ingmar, Djedovic, Gabriel, Cohnert, Tina U, Lumenta, David B, Singer, Georg, Leithner, Andreas, Kamolz, Lars-Peter, Andrianakis, Alexandros, Puchwein, Paul, Mikalauskas, Saulius, Kirchweger, Patrick, Függer, Reinhold, Mittermair, Christof, Russe, Elisabeth, Paal, Peter, Grünbart, Martin, de Cillia, Michael, Weiss, Helmut G, Steiner, Florian, Binder, Alf Dorian, Samadov, Elgun, Ibrahimli, Arturan, Muslumov, Gurbankhan, Bayramov, Nuru Y, Saunders, Jada M, Almoosa, Noora, Haj-Ibrahim, Huzifa, Maresch, Martin, Ezzdean, Weaam K, Juma, Isam M, Hasan, Layla H, Haider, Fayza HA, Alfaqawi, Ghassan Salman, Alam, Mohammed S, Islam, Shahnoor, Basher, AKM K, Mitul, Ashrarur Rahman, Islam, Nazmul, Oosterkamp, Antje E, Ahmed, Tanveer, Hannan, M Jafrul, Padmore, Greg M, Doyle, Alex F, LaCorbiniere, Karisha L, Boyce, Rico D R, Ragoobar, Paul T, Walkes, Keisha M Y, Haynes, Amelia A, Corbin, Sasha M, Litvina, Yauheniya A, Makhmudov, Anvar, Strypstein, Sébastien, Dhondt, Bert, Rasschaert, Ricky, Farid, Yasser, Wahib, El Mahdi, Pigeolet, Manon, Belle, Koen Van, De Wachter, Stefan, Komen, Niels, Vandeputte, Mathieu PJ, Jansen, Yanina JL, Stijns, Jasper, Eynde, Jef Van den, Olowo, Benedicte I, Feraudy, Israel C, Dragisic, Vedran, Martinovic, Vlatka, Barišić, Tatjana, Penava, Nikolina, Hudic, Igor, Delibegovic, Samir, Bogdanović, Gordana, Grgić, Gordana, Cerovac, Anis, Cerovac, Elmedina, Bedada, Alemayehu G, Baiocchi, Glauco, Wainstein, Alberto, Moisés, Elaine Christine D, Zani, Ana Carolina Tagliatti, de Campos Prado, Caio Antonio, Panis, Carolina, Rech, Daniel, Soares da Silva, Ruan Gabriel, Joviliano, Edwaldo E, Rezende, Ricardo F, Reis, Igor G N, Pires, Robinson E S, Christiano, Adriana Borgonovi, Consani, Heitor F X, Pugliesi, Felipe G, Takeda, Flavio R, Mariani, Alessandro W, Valadares, Ricardo J B, Andreollo, Nelson A, Lopes, Luiz Roberto, Tonello, Cristiano, Alonso, Nivaldo, dos Santos, Carlos Ferreira, Lima, Leonardo S, Salgado, Wilson, Pereira, Thiago H S, Gatti, Arthur Paredes, Oliva, Ramon N L, Nardi, Caroline N, Sousa, Alvaro F L, Ribeiro, Ivonizete P, Carvalho, Herica E F, Oliveira, Layze B, Schneider, Guilherme, Casteleins, William Augusto, Silva, Larissa M, Gomes, Carlos Augusto, da Cunha Viana Júnior, Alonço, Cruz, Ricardo P, Gomes, Gustavo MA, Buarque, Igor L, Barros, Aldo V, Marangon, Gustavo B, Flumignan, Ronald LG, Nakano, Luís CU, Pascoal, Patrícia IF, Santos, Brena C, Kuramoto, Danielle AB, Correia, Rebeca M, Amaral, Fabio CF, Flumignan, Carolina DQ, Dussán-Sarria, Jairo A, Simões, Romeo L, Amorim, Robson L, Silva, Jeancarllo S, Lyra Junior, Humberto F, Julio, Nathalia S, Gerber, Marlus T, dos Santos, José Mauro, de Oliveira, Joao Carlos C, Palamim, Camila VC, Marson, Fernando AL, Gomes, Iolanda M, Oliveira, Priscila R, Lima, Ana Lucia L M, Carvalho, Vladimir C, Silva, Jorge S, NA, Ulysses Ribeiro, Laporte, Gustavo Andreazza, Gonçalves, Mateus Capuzzo, Botacin, Lais S, Avelino, Melissa AG, Brito, Luiz Gustavo O, Hristova, Evguenia T, Stoyanov, Vladislav Valentinov, Sakakushev, Boris E, Dardanov, Dragomir D, Sokolov, Manol B, Mehta, Ananya, Gyokova, Elitsa H, Abdullahi, Mohamed, Karamanliev, Martin P, Dimitrov, Dobromir D, Slavchev, Mihail T, Atanasov, Boyko Ch, Yotsov, Tsanko I, Hadzhiev, Dimitar Bozhidarov, Stock, Simon E, Nwegbu, Chukwuemeka Gerald, Tanyi, Tanyi John, Brown, James A, Arneja, Jugpal S, Lee, Susan M, Kancherla, Ramya, Kidane, Biniam, Champagne, Pierre-Olivier, Ma, Xiya, Munro, Allana, McKeen, Dolores M, Glinka, Juan, Vasarhelyi, Edward M, Subramani, Yamini, Alfaro, Hilda, Shah, Ushma J, Gonzalez, Nelson J, MacNeil, S Danielle, Nagappa, Mahesh, Malthaner, Richard A, Brackstone, Muriel, Alkhamesi, Nawar A, Qiabi, Mehdi, Arango-Ferreira, Camila, Prempeh, Agya B A, Dumitra, Sinziana, Spence, Richard T, Bedard, Eric LR, Luc, Jessica GY, Johnston, Brian R, Attabib, Najmedden, Persad, Amit RL, Das, Sunit, Khoshbin, Amir, Ladha, Karim S, Sankar, Ashwin, Teja, Bijan, Daza, Julian F, Chan, Veronica F, Baertschiger, Reto M, Zani, Augusto, Nessim, Carolyn, McIsaac, Daniel I, Singh, Mandeep, Behzadi, Abdollah, Dell, Angela J, Al Riyami, Salim M, Dajani, Khaled Z, Bigam, David, Manikala, Vinod K, Street, John T, Mayson, Kelly V, Wallis, Christopher J D, Mimica, Ximena, Villanueva, Julio, Altamirano, Roberto, Waissbluth, Sofia, Marín, Diego I, Fonseca, Bruno Catoia, Hodali, Andrés J, Ramos, Andrea I, Valenzuela, Marco A, Torres, Janina J, Song, Yi, Yang, Wah, Aldanakh, Abdullah, Alradhi, Mohammed, Lyu, Yidong, Chen, Yan, Fletcher, Angélica V, Camargo, Daniela, Casanova, Rafael Figueroa, Medina, Camilo Andres Caicedo, Bolivar, Dinimo, Garcia, Tatiana Carolina Beltran, Pedraza, Nestor F, Garcia-Lopez, Andrea, Patino-Jaramillo, Nasly G, Giron, Fernando A, Rivera, Carlos J- Perez, Nieto-Calvache, Albaro José, Ariza, Fredy, Orozco-Chamorro, Claudia Milena, Nanez, Maria A, Garces, Diana S, Figueroa, Luis M, Badiel, Marisol, Martinez, Delio F, Coll-Tello, Brenda, Camelo, Hector F, Montoya Casella, Antonio J, Ordoñez, Sebastian, Velez Sanchez, Paola A, Salcedo, Juan C, Villegas, Lina M, Holguín, Jorge A, Cardozo, Jesús Hernán Tovar, Perdomo, Jorman Harvey Tejada, Perdomo, Valentina Gutiérrez, Rivera-Rincon, Natalia A, Gomez, Paula Torres, Delgado-Nieto, Elena Leonor, Isaza-Restrepo, Andres, Vargas, Felipe, Vargas, Ana M, Castro, Arnulfo Andrade, Navarro, Jorge A, Vargas, Saul E, Calvache, Jose A, Mendoza-Arango, Maria C, Bernal, Jorge Luis Vélez, Gonzalez, Felipe O, šantak, Goran, Kirac, Iva, Kršul, Dorian, Versic, Ana Bosak, Augustin, Goran, Kulis, Tomislav, Kastelan, Zeljko, Hadzibegovic, Ana Danic, Grsic, Kresimir, Hudolin, Tvrtko, 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Kandaswamy, Anyaugo, Ngozi S, Wuraola, Obafemi K, Odejinmi, Funlayo, Craven, Joanna M, West, Charlotte L, Barter, Reece A, Navaratnam, Devaraj M, Malik, Shahbaz S, Mahendran, Vimaladhithan, Zilvetti, Miguel, Lovegrove, Richard E, Board, Tim N, Zeiton, Moez, Sarwar, Safdar A, Duff, Sarah E, Hsabo, Elmuiz A, Nugur, Ashwani Kumar, Morris, Richard M, Lala, Anil K, Kwan-Feinberg, Rita O, Ross, Samuel W, Dressler, Jeremy A, Evans, Faye M, Wason, Shaun E L, Vogel, Keianna R, Wang, Joanna C, Sulciner, Megan L, Hirji, Sameer, Raoof, Mustafa, Wolff, Christopher J, kent, Ilan, Turan, Alparslan, Teixeira, Pedro G, Olson, Kristofor A, Patel, Neil D, Krishnamoorthy, Vijay, Moris, Dimitrios, Rice, Henry E, Gabr, Hesham, Satoskar, Savni R, Castater, Christine A, Jmaileh, Manal, Payne, Rachel E, Kwon, David S, Aarabi, Shahram, Escobar, Pedro F, Kronenfeld, Joshua P, Dalton, Michael K, Etchill, Eric W, Haut, Elliott R, Vervoort, Dominique, Dehal, Ahmed, McKenney, Mark, Elkbuli, Adel, Gosain, Ankush, Abdelsattar, Zaid M, Naunheim, Matthew R, Burks, Ciersten A, Zhou, Allen S, Heng, Marilyn, Abohashem, Shady, Lozano-Calderón, Santiago A, Reisenauer, Janani S, Mouawad, Nicolas J, Diehl, Thomas M, Eriksson, Evert A, Marwaha, Jayson S, Schroeppel, Thomas J, LaRocca, Christopher J, Chang, Grace H, Hassan, Romana, Nosanov, Lauren B, Rickard, Jennifer L, Avraham, Jacob B, Petrone, Patrizio, Sferra, Joseph J, Hadaya, Joseph, Mead, Brittany S, Hauptman, Jason S, Ahmad, Maleeha, Meola, Antonio, Chang, Steven D, Ko, Ara, Specht, Katherine E, Choudhry, Asad, Encalada, Ronald Zerna, Poggio, Juan L, Xing, Hang, Glass, Nina E, Hooker, Robert, Martins, Paulo N, Scott, Erin M, Bankhead, Brittany K, Giorgakis, Emmanouil, Nigh, Joe, Osborn, Tamara, Tay Lasso, Erika L, Beswick, Daniel M, Berndtson, Allison E, Kaups, Krista L, Chen, Lee-lynn, Farrell, Michael S, Boeck, Marissa A, Vaysburg, Dennis M, Kassam, Al-Faraaz, Turner, Kevin M, Dyas, Adam R, Coleman, Julia R, Folsom, Megan, Lam, Christopher M, Kumer, Sean C, Larson, Kelsey, Turner, Scott, Guidry, Christopher, Reddy, Madhuri, Berbel, German, Findley, Austin, Beahm, David, Bur, Andres, Marlor, Derek, Houndschell, Corey, Carver, Shea, Ulrich, Alissa, Bhutiani, Neal, DiChiacchio, Laura, Abdou, Hossam, Napolitano, Lena M, Ghebre, Rahel, Bass, Gary Alan, Kaplan, Lewis J, Martin, Niels D, Duffy, Caoimhe C, Abdelhamid, Sultan S, Daley, Brian J, Roland, Christina L, Dumas, Ryan P, Ban, Vin Shen, Rajesh, Aashish, Davies, Mark G, Purudappa, Prabhudev P, Walters, Camila B, Lin, Nicole, Ruzgar, Nensi M, Ullrich, Sarah J, Trostchansky, Ivan, Bonilla-Cal, Fernando, Castedo, Fabiola, Sobrero, Helena, Acuña, Gastón, Álvarez, Sofía M, Tarigo, Josefina, Carbajal, Ana C, Carbajal, Ana, Reyes, Antonio R, Al-Eryani, Fatima A, Alqousi, Nardeen N, Alattas, Zainab, Al-Saban, Rafat A, Al-Shehari, Mohammed M, ALHammadi, Nawal T, Shream, Sarah A, Al-Naggar, Hamza M, Al-Qalisi, Lina M, Nadeesh, Areej E, Al-Samawi, Hytham H, Bajjah, Hadeel M, AL-Ameri, Saba A, Albably, Jamal F, Ghannam, Rana A, Shamsan, Amatallah H, Meead, Abdullah A, Al- Zubaidi, Riham Q, Zulait, Mohammed A, Najeeb, Halah, Alsayadi, Musaed M, Al-Mashreqi, Seham K, Al-Jomai, Najla A, Alsayadi, Ramzi A, Al-Naggar, Moath M, Almarashi, Hassan A, Musaeed, Hasna M, Al-Raimi, Ibrahim M, Ghanem, Hossam N, Al-Zazay, Karim A, AL-Mahdi, Shehab A, Almontaser, Amatalaleem S, Savopoulos, Vanessa A S, Munthali, James, Kabongo, Kizito M C, Mushiwokufa, Willard, Ngulube, Allan, Ntoto, Crispin, Magama, Praise T, Dzinotyiwei, Daniel, Chivanga, Shelton K, Dube, Ngqabutho S, Sanchez, Ernesto C, Moyo, Assel T, Chengahomwe, Antony, Chinyowa, Simbarashe, Siamuchembu, Maphios, Bondera, Tafadzwa, and Mushawarima, Trust

Published
2022
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25. Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan.

Author

Naqvi, Syeda Farwa, Ameena, Umi, Qazi, Waheed Uddin, Ahmad, Salman, Iqbal, Anjum, and Malik, Sajid

Subjects
CONGENITAL disorders, HUMAN abnormalities, NEUROLOGICAL disorders, PUBLIC spaces, CEREBRAL palsy
Abstract

Objectives: To elucidate the burden and clinico-epidemiological attributes of congenital and hereditary anomalies (CA) in the extended Peshawar Valley of Pakistan. Method: This is a multicenter cross sectional study carried out in Buner, Charsadda, Mardan, Nowshera, Peshawar and Swabi districts, during 2017-2021. The pediatric and adult patients with CA were recruited from hospitals, public places and through door-to-door surveys. The anomalies were classified with the help of specialized clinicians. Descriptive statistics was employed. Results: In this study, 1065 independent subjects with certain types of CA from independent households were included. The index males were 71%; the majority of subjects originated from rural areas (72%), and spoke Pashto (96%). The CA were categorized into 10 major and at least 104 minor categories. There was highest representation of neurological disorders, n=375 (proportion.: 0.352; 95% CI: 0.323-0.381), followed by limb defects (n=281; prop.: 0.264), sensorineural defects (n=128; prop.: 0.120), musculoskeletal defects (n=84; prop.: 0.079), visual impairments (n=67; prop.: 0.063), hemoglobinopathies (n=40; prop.: 0.038), ectodermal disorders (n=34; prop.: 0.032), cardiovascular anomalies (n=19; prop.: 0.018), and orofacial anomalies (n=19; prop). Among the neurological disorder, intellectual disabilities and cerebral palsy were highly prevalent. The majority of the cases had a sporadic presentation (68%), and isolated occurrence (72%), whereas parental consanguinity was witnessed in 58% of cases. Conclusion: A wide range of CA were witnessed in this cohort with a preponderance of neurological disorders. The majority of the anomalies are of severe nature rendering a high morbidity burden in the population and requiring early detection, intervention and management. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Prevalence-pattern of congenital and hereditary anomalies in Balochistan Province of Pakistan.

Author

Azmatullah, Khan, Muhammad Qasim, Jan, Abdullah, Mehmood, Junaid, and Malik, Sajid

Subjects
HEREDITY, NOSOLOGY, PERINATAL care, PUBLIC hospitals, HUMAN abnormalities
Abstract

Objectives: This study was aimed to report the prevalence-pattern of hereditary and congenital anomalies (CA) in general population of Balochistan province of Pakistan, and to elucidate the familial/sporadic presentations and parental consanguinity of CA. Methods: In a multi-center cross-sectional study, patients with CA were ascertained from various district hospitals and public places throughout Balochistan from 2019 to 2023. Online Mendelian Inheritance in Man (OMIM) and International Classification of Diseases (ICD-10) databases were utilized for uniformity in classification. Descriptive statistics was employed. Results: A cohort of 1185 independent patients diagnosed with CA was recruited and the index males were 71%. The CA were classified into nine major and 118 minor entities. In the major categories, neurological disorders had the highest prevalence (n=317; 27%), followed by limb defects (n=161; 14%), blood-heart defects (n=159; 13%), neuromuscular anomalies (n=156; 13%), sensorineural/ear defects (n=140; 12%), eye/visual impairments (n=90; 8%), musculoskeletal defects (n=83; 7%), ectodermal defects (n=31; 3%), and others (48; 4%). Sixty one percent CA were sporadic in nature and 39% were familial; and parental consanguinity was observed in 51% cases. Several rare CA were witnessed. Conclusions: High preponderance of sporadic presentations in neuromuscular anomalies and musculoskeletal defects and low incidence of parental consanguinity in ectodermal defects and musculoskeletal defects may depict a significant etiological role of non-genetic/environmental factors such as prenatal exposures and maternal conditions. In this context, it is important to increase health education, enhance antenatal and perinatal care, and strengthen the health-care system in Balochistan to reduce the burden of CA. [ABSTRACT FROM AUTHOR]

Published
2024
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29. From Service Quality to Brand Loyalty: The Mediating Effect of Student Satisfaction in Public Sector Universities

Author

Rahman, Atteeq ur, Manzoor, Waqas, Yasmin, Nazia, Yaqub, Rana Muhammad Shahid, Ali, Malik Sajid, Rahman, Atteeq ur, Manzoor, Waqas, Yasmin, Nazia, Yaqub, Rana Muhammad Shahid, and Ali, Malik Sajid

Abstract

Consumers and brands are crucial concepts and compelling research areas in brand management. A decade ago, researchers have noted that the brand equity’s concept is less explored in the education sector. Education system is too vital industries that are playing a major role in the society and growth of nation, thus highlighting its importance. Corporate industries prioritize customer satisfaction and loyalty, and some studies suggest that students should be considered customers. Consequently, universities need to enhance their understanding of brand equity-related concepts such as brand strength, brand image, and service quality. Providing high levels of service quality and cultivating a strong brand image leads to loyal customers. This study examines the mediating effect of student satisfaction on the relationships between brand strength, brand image, service quality, and loyalty. Using convenience sampling, we distributed 600 questionnaires to respondents from public sector universities in Pakistan. Service quality is identified as a multidimensional construct comprising interactional quality, outcome quality, and physical environment quality. These types are positively and significantly related to student loyalty. The study reveals that brand image and service quality show full mediation, while brand strength shows partial mediation. The results indicate that universities with a better understanding of their students, and those that share their plans and information effectively have more satisfied students. The findings regarding brand image suggest that universities should have a clear and definite vision to satisfy their students. Additionally, satisfied students feel honored to study at these institutions. Regarding service quality, the study suggests that universities with courteous, sympathetic, reassuring, and job-oriented administrative staff have more satisfied students. The perceived quality of the environment indicates that poor physical layouts, inadeq

Published
2024

30. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Author

Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan, Zhu, Tengfei, Tian, Qi, Xia, Lu, Wu, Huidan, Shen, Lu, Dong, Shanshan, Yang, Xinyi, Liu, Cenying, Ma, Linya, Zhang, Qiumeng, Khan, Rizwan, Shah, Abid Ali, Guo, Jifeng, Tang, Beisha, Leonardis, Lea, Writzl, Karin, Peterlin, Borut, Guo, Hui, Malik, Sajid, Xia, Kun, and Hu, Zhengmao

Published
2021
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36. Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

Author

Bilches Medinas, Danilo, Malik, Sajid, Yıldız‐Bölükbaşı, Esra, Borgonovo, Janina, Saaranen, Mirva J, Urra, Hery, Pulgar, Eduardo, Afzal, Muhammad, Contreras, Darwin, Wright, Madison T, Bodaleo, Felipe, Quiroz, Gabriel, Rozas, Pablo, Mumtaz, Sara, Díaz, Rodrigo, Rozas, Carlos, Cabral‐Miranda, Felipe, Piña, Ricardo, Valenzuela, Vicente, Uyan, Ozgun, Reardon, Christopher, Woehlbier, Ute, Brown, Robert H, Sena‐Esteves, Miguel, Gonzalez‐Billault, Christian, Morales, Bernardo, Plate, Lars, Ruddock, Lloyd W, Concha, Miguel L, Hetz, Claudio, and Tolun, Aslıhan

Published
2022
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38. Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan

Author

Kanwal, Madiha, Alyas, Saadia, Afzal, Muhammad, Mansoor, Atika, Abbasi, Rashda, Tassone, Flora, Malik, Sajid, and Mazhar, Kehkashan

Subjects
Clinical Research, Intellectual and Developmental Disabilities (IDD), Genetics, Rare Diseases, Genetic Testing, Fragile X Syndrome, Health Services, Pediatric, Brain Disorders, Mental Health, Prevention, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Blotting, Southern, Child, Child, Preschool, Chromosomes, Human, X, Cross-Sectional Studies, Early Diagnosis, Female, Fragile X Mental Retardation Protein, Humans, Intellectual Disability, Intelligence Tests, Male, Pakistan, Pedigree, Polymerase Chain Reaction, Prevalence, Symptom Assessment, Trinucleotide Repeats, Young Adult, General Science & Technology
Abstract

Fragile-X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and affects 0.7-3.0% of intellectually compromised population of unknown etiology worldwide. It is mostly caused by repeat expansion mutations in the FMR1 at chromosome Xq27.3. The present study aimed to develop molecular diagnostic tools for a better detection of FXS, to assess implementation of diagnostic protocols in a developing country and to estimate the prevalence of FXS in a cohort of intellectually disabled subjects from Pakistan. From a large pool of individuals with below normal IQ range, 395 subjects with intellectual disability of unknown etiology belonging to different regions of the country were recruited. Conventional-PCR, modified-PCR and Southern blot analysis methods were employed for the detection of CGG repeat polymorphisms in the FMR1 gene. Initial screening with conventional-PCR identified 13 suspected patients. Subsequent investigations through modified PCR and Southern blot analyses confirmed the presence of the FMR1 mutation, suggesting a prevalence of 3.5% and 2.8% (mean 3.3%) among the male and female ID patients, respectively. These diagnostic methods were further customized with the in-house conditions to offer robust screening of referral patients/families for diagnostics and genetic counseling. Prescreening and early diagnosis are crucial for designing a prudent strategy for the management of subjects with ID. Outcome of the study recommends health practitioners for implementation of molecular based FXS diagnosis in routine clinical practice to give a better care for patients similar to the ones included in the study.

Published
2015

41. Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma

Author

Naqvi, Syeda Farwa, primary, Yıldız-Bölükbaşı, Esra, additional, Afzal, Muhammad, additional, Nalbant, Gökhan, additional, Mumtaz, Sara, additional, Tolun, Aslıhan, additional, and Malik, Sajid, additional

Published
2023
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45. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre‐axial polydactyly, post‐axial polydactyly, and syndactyly

Author

VanderMeer, Julia E, Afzal, Muhammad, Alyas, Saadia, Haque, Sayedul, Ahituv, Nadav, and Malik, Sajid

Subjects
Congenital Structural Anomalies, Prevention, Genetics, Clinical Research, Pediatric, Enhancer Elements, Genetic, Female, Hand Deformities, Congenital, Hedgehog Proteins, Humans, Male, Membrane Proteins, Mutation, Pakistan, Pedigree, polydactyly, triphalangeal thumb, syndactyly, ZRS, Clinical Sciences
Abstract

Limb malformations are one of the most common types of human congenital malformations. Mutations in the ZRS enhancer of Sonic Hedgehog are thought to be responsible for pre-axial polydactyly in multiple independent families. Here, we describe a large Balochi tribal family from Southern Punjab, Pakistan, with a variable set of limb malformations and a novel ZRS mutation. The family has a limb phenotype characterized by triphalangeal thumb, pre-axial polydactyly, and post-axial polydactyly. There is also a high degree of phenotypic heterogeneity with less common clinical findings in the affected family members that include osseous syndactyly of forth-fifth fingers, clinodactyly, hypoplasia of mesoaxial fingers, and bifid halluces. The presentation in most of the affected patients was bilateral and symmetrical. A heterozygous C>A mutation at position 287 of the ZRS enhancer (chr7:156,584,283; hg19) was detected in all affected subjects and is absent from four unaffected family members, 42 unrelated samples, and multiple databases of human variation. Combined, these results identify a novel ZRS287 C>A mutation which leads to a variable spectrum of limb phenotypes.

Published
2012

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