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1,243 results on '"KABRA, MADHULIKA"'

153. IndiCleft - A web-based standardized research tool and resource for cleft anomalies.

Author

Kharbanda, O. P., Grover, Ashoo, Dawar, Savita, Aggarwal, Karoon, Sharma, S. C., Singhal, Maneesh, Chauhan, Shashank, Singh, Harpreet, Kabra, Madhulika, Gupta, Neeraja, Scaria, Vinod, Rajkhowa, MriduPobon, Garg, Arti, Monga, Nitika, Singh, Ravinder, and Dhaliwal, R. S.

Abstract

Introduction: In India, approximately 35,000 new cleft patients are born every year. Many patients receive suboptimum, improper, little, or no treatment. The cumulative burden of cleft care is up to 1 million cases. The spectrum of problems is varied, the caseload is enormous, and the logistics of treatment delivery are complicated. The Indian Council of Medical Research (ICMR) task force project was launched in 2012 to evaluate the status of cleft care in India and develop strategies to provide comprehensive cleft care through a dynamic multidisciplinary and multidimensional tool. ICMR task force project (2012.14) was conducted in Delhi, and the National Capital Region reported that at least 50% of studied cases had complex and multiple treatment needs. The needs identified were related to surgical, orthodontic, dental, ENT and Speech, rehabilitation of mutilated dentition, and various psychological disturbances among patients with Cleft anomalies. Aim: The aim of this study was to develop and test web.based application to create a system for national data of patients with cleft anomalies and digitize the patient records in a standardized preagreed format. Methods and Results: Corresponding to contemporary digital technologies and evolutionary improvements in data collection, web.based data collection instrument, including text, photographs, X.rays, and audio files, was considered the most appropriate. The experts from varied domains in consultation with ICMR and National Informatics Centre evolved a web.based data collection instrument which is named the "IndiCleft tool." The tool has been tested and used over the years and is presently being upgraded to dynamic version for a national data and patient care registry. Conclusion: The present article describes the process of the development of a "dynamic" web-based data collection instrument. The IndiCleft tool is the national resource on cleft data in India. [ABSTRACT FROM AUTHOR]

Published
2022
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164. Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

Author

Riazuddin, Saima, Khan, Shaheen N., Ahmed, Zubair M., Gosh, Manju, Caution, Kyle, Nazli, Sabiha, Kabra, Madhulika, Zafar, Ahmad U., Chen, Kevin, Naz, Sadaf, Antonellis, Anthony, Pavan, William J., Green, Eric D., Wilcox, Edward R., Friedman, Penelope L., Morell, Robert J., Riazuddin, Sheikh, and Friedman, Thomas B.

Subjects
United States. National Institutes of Health, Allelomorphism -- Research, Genetic markers -- Research, Gene mutations -- Research, Biological sciences
Published
2006

166. A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

Author

Kausthubham, Neethukrishna, primary, Shukla, Anju, additional, Gupta, Neerja, additional, Bhavani, Gandham S., additional, Kulshrestha, Samarth, additional, Das Bhowmik, Aneek, additional, Moirangthem, Amita, additional, Bijarnia‐Mahay, Sunita, additional, Kabra, Madhulika, additional, Puri, Ratna D., additional, Mandal, Kausik, additional, Verma, Ishwar C., additional, Bielas, Stephanie L., additional, Phadke, Shubha R., additional, Dalal, Ashwin, additional, and Girisha, Katta M., additional

Published
2021
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180. Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C

Author

Parihar, Jasmine, Dash, Deepa, Aggarwal, Bhawana, Kabra, Madhulika, Rajan, Roopa, Vibha, Deepti, Singh, Rajesh Kumar, Bhatia, Rohit, Gupta, Neerja, and Tripathi, Manjari

Abstract

ABSTRACT:Niemann-Pick disease type C (NPC), is a rare lysosomal storage disorder, which has a variable presentation based on the age of onset. We describe five adult/adolescent-onset NPC cases presenting with a range of movement disorders along with vertical supranuclear gaze palsy as part of the clinical presentation. A diagnostic delay of 4–17 years from the symptom onset was found in this case series. A high index of clinical suspicion in adult/adolescent patients presenting with vertical supranuclear gaze palsy along with various movement disorder phenomenology can help in the early diagnosis of NPC.

Published
2022
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181. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Author

Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Hannah, Michael G., Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Tucci, Arianna, Fiorillo, Chiara, Rissotto, Federico, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Romeo, Carmelo, Magrinelli, Francesca, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Farello, Giovanni, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Belcastro, Vincenzo, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Nanni, Giuliana, Scorrano, Giovanna, Fiorile, Maria F., Brancati, Francesco, Di Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elia, Maurizio, Terrone, Gaetano, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Zazzeroni, Francesca, Alesse, Edoardo, Manti, Filippo, Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Javed, Iram, Rahman, Fatima, Ahmed, Muhammad Mehboob, Parisi, Pasquale, Borgia, Paola, Mangano, Giuseppe D., Chiarelli, Francesco, Genomics, Queen Square, Accogli, Andrea, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, and Houlden, Henry

Abstract

The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11(c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.

Published
2022
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