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2. Cardiac MRI in Duchenne and Becker Muscular Dystrophy

Author

Girija, Manu Santhappan, Menon, Deepak, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Keertipriya, Madassu, Bardhan, Mainak, Thomas, Priya Treesa, Kiran, Valasani Ravi, Nishadham, Vikas, Sadasivan, Arun, Huddar, Akshata, Unnikrishnan, Gopi Krishnan, Barthur, Ashita, and Nalini, Atchayaram

Subjects
Duchenne muscular dystrophy -- Diagnosis -- Care and treatment, Fibrosis -- Diagnosis -- Care and treatment, Becker muscular dystrophy -- Diagnosis -- Care and treatment, Magnetic resonance imaging -- Methods, Health
Abstract

Background and Objectives: Cardiovascular magnetic resonance imaging (CMRI) is the noninvasive technique of choice for early detection of cardiac involvement in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively), but is seldom used in routine clinical practice in the Indian context. We sought to determine the prevalence of CMRI abnormalities in patients with DMD and BMD and to compare the CMRI parameters with the phenotypic and genotypic characteristics. Methods: A prospective, observational study was conducted on patients genetically diagnosed with DMD and BMD who could complete CMRI between March 2020 and March 2022. Abnormal CMRI was the presence of any late gadolinium enhancement (LGE) that signifies myocardial fibrosis (LGE positivity), regional wall motion abnormality, or reduced left ventricular ejection fraction (LVEF Results: A total of 46 patients were included: 38 patients with DMD and eight with BMD. Cardiac abnormality was seen in 23 (50%) patients. LGE was more common than impaired LVEF in DMD (16, 42.1%), while impaired LVEF was more common in BMD (5, 62.5%). LGE was most frequently found in lateral wall (18/19) followed by inferior (6/19), septal (5/19), anterior (2/19), and apex (1/19). Among the various clinicodemographic parameters, only age (r = 0.495, P = 0.002) and disease duration (r = 0.407, P = 0.011) were found to significantly correlate with LGE in patients with DMD. No association was found between the various CMRI parameters and the genotype. Conclusions: The current study highlights the differences in myocardial fibrosis and LV dysfunction between DMD and BMD, along with other CMRI parameters. Notably, a genotype-CMRI correlation was not found in the current cohort, which needs to be further explored. Keywords: Dystrophinopathy, Duchenne muscular dystrophy, Becker muscular dystrophy, cardiomyopathy, cardiac MRI, Author(s): Manu Santhappan Girija [1]; Deepak Menon (corresponding author) [1]; Kiran Polavarapu [1,2]; Veeramani Preethish-Kumar [1]; Seena Vengalil [1]; Saraswati Nashi [1]; Madassu Keertipriya [1]; Mainak Bardhan [1]; Priya Treesa [...]

Published
2024
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3. Morvan's Syndrome with Myasthenia Gravis: An Autoimmune or Paraneoplastic Association?

Author

Menon, Deepak, Chakkera, Priyanka, Jha, Shreyashi, Kumar, B Pradeep, Anjusha, JSS, Sena, M Chandra, Rao, Shilpa, Arshad, Faheem, Nashi, Saraswati, Vengalil, Seena, Alladi, Suvarna, and Nalini, Atchayaram

Subjects
Immunity -- Testing, Myasthenia gravis -- Diagnosis -- Care and treatment, Thymoma -- Diagnosis -- Care and treatment, Health
Abstract

Author(s): Deepak Menon (corresponding author) [1]; Priyanka Chakkera [1]; Shreyashi Jha [2]; B Pradeep Kumar [1]; JSS Anjusha [1]; M Chandra Sena [3]; Shilpa Rao [4]; Faheem Arshad [1]; Saraswati [...]

Published
2024
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4. Dedicated anticoagulation management protocols in fragility femoral fracture care – a source of significant variance and limited effectiveness in improving time to surgery: The hip and femoral fracture anticoagulation surgical timing evaluation (HASTE) study

Author

Smith, Matthew, Yoong, Andrel, Lim, Jun Wei, Yousef, Omar, McDonald, Stephen, Chileshe, Chinga, Ramus, Camilla, Clements, Christopher, Barrett, Liam, Rockall, Oliver, Geetala, Rahul, Islam, Saif Ul, Nasar, Ahmad, Almond, Kieran, Hassan, Ladan Fatima Yusuf, Shah, Sohan, Brand, Robert Bruce, Yawar, Bakhat, Gilmore, Catherine, McAuley, Daryl, Khan, Waleed, Subramanian, Padmanabhan, Ahluwalia, Aashish, Ozbek, Leyla, Awasthi, Prashant, Sheikh, Hassaan, Barkley, Sarah, Ardolino, Toni, Denning, Alexander, Thiruchandran, Gaj, Fraig, Hossam, Salim, Omar, Iqbal, Rabia, Guy, Stephen, Hogg, Jack, Bagshaw, Oliver, Asmar, Samir, Mitchell, Stephen, Quek, Fang, Fletcher, James, French, Jonathan, Graham, Selina, Sloper, Philip, Sadique, Hammad, Matera, Valentina, Sohail, Zain, Leong, Justin Wei, Issa, Fares, Greasley, Lauren, Marsden, Samuel, Parry, Lucy, Mannan, Syed, Zaheen, Humayoon, Moriarty, Peter, Manning, William, Morris, Timothy, Brockbanks, Carole, Ward, Peter, Pearce, Kim, McMenemy, Louise, Mahmoud, Mohamed, Kieffer, Will, Lal, Aayush, Collis, Justin, Chandrasekaran, Karthik, Foxall-Smith, Michael, Raad, Marjan, Kempshall, Peter, Cheuk, Jocelyn, Leckey, Sam, Gupta, Rishav, Engelke, Daniel, Kemp, Mark, Venkatesan, Aakaash, Hussain, Adnan, Simons, Michiel, Raghavendra, Ram Mohan, Rohra, Satish, Deo, Sunny, Vasarhelyi, Ferenc, Thelwall, Claire, Cullen, Krista, Al-Obaidi, Bilal, Fell, Adam, Thaumeen, Ahmad, Dadabhoy, Maria, Ali, Mira, Ijaz, Sameer, Lin, David, Khan, Basharat, Alsonbaty, Mohamed, Lebe, Moritz, Millan, Ravi Kant, Imam, Sam, Theobald, Emma, Cormack, Jonathan, Sharoff, Lokesh, Eardley, Will, Jeyapalan, Rathan, Alcock, Liam, Clayton, Julia, Bates, Natalie, Mahmoud, Yousif, Osborne, Alex, Ralhan, Shvaita, Carpenter, Catriona, Ahmad, Mahmood, Ravi, Sanjeev Musuvathy, Konbaz, Tarek, Lloyd, Thomas, Sheikh, Nomaan, Swealem, Ahmed, Soroya, Emma, Rayan, Faizal, Ward, Thomas, Vasireddy, Aswinkumar, Clarke, Ellisiv, Sikdar, Oishi, Smart, Yat Wing, Windley, Joseph, Ilagan, Belen, Brophy, Edel, Joseph, Sarah, Lowery, Kathryn, Jamjoom, Ammer, Ismayl, Ghiath, Aujla, Randeep, Sambhwani, Sharan, Ramasamy, Arul, Khalaf, Ahmed, Ponugoti, Nikhil, Teng, Wai Huang, Masud, Saqib, Otoibhili, Eghe, Clarkson, Martin, Nafea, Mohamed, Sarhan, Mohamed, Hanna, Shady, Kelly, Andrew, Curtis, Alex, Gourbault, Lysander, Tarhini, Mariam, Platt, Nicholas, Fleming, Thomas, Pemmaraju, Gopalakrishna, Choudri, Mohammed Junaid, Burahee, Abdus, Hassan, Labiba, Hamid, Laveeza, Loveday, David, Edres, Kareem, Schankat, Kerstin, Granger, Luke, Goodbun, Matthew, Parikh, Sunny, Johnson-Lynn, Sarah, Griffiths, Alexandra, Rai, Avinash, Chandler, Henry, Guiot, Luke, Appleyard, Thomas, Robinson, Karen, Fong, Angus, Watts, Anna, Stedman, Tobias, Walton, Victoria, Inman, Dominic, Liaw, Frank, Hadfield, James, McGovern, Julia, Baldock, Thomas, White, Jonathan, Seah, Matthew, Jacob, Neville, Ali, Zaid Haj, Goff, Thomas, Sanalla, Ahmed, Gomati, Ayoub, Nordin, Louise, Hassan, Eslam, Ramadan, Omar, Teoh, Kar Hao, Baskaran, Dinnish, Ngwayi, James, Abbakr, Lina, Blackmore, Noah, Mansukhani, Sameer, Guryel, Enis, Harper, Adam, Cashman, Emily, Brooker, Joanne, Pack, Louise, Regan, Nora, Wagner, Wilhelm, Selim, Amr, Archer, Debbie, McConaghie, Gregory, Patel, Ravi, Gibson, William, Pasapula, Chandra S, Youssef, Hesham, Aziz, Md Abdul, Subhash, Sadhin, Banaszkiewicz, Paul, Elzawahry, Ahmed, Neo, Chryssa, Wei, Nicholas, Bhaskaran, Arun, Sharma, Abhishek, Factor, Danielle, Shahin, Fatma, Shields, David, Ferreira, Catarina Dores Fernandes, Jeyakumar, Gowsikan, Liao, Quintin, Sinnerton, Robert, Ashwood, Neil, Sarhan, Islam, Ker, Andrew, Phelan, Sean, Paxton, James, McAuley, Joseph, Moulton, Lawrence, Mohamed, Ahmed, Dias, Ana, Ho, Beatrice, Francis, Daniel, Miller, Sarah, Phillips, Jon, Jones, Robin, Arthur, Calum, Oag, Erlend, Thutoetsile, Kamogelo, Bell, Katrina, Milne, Kirsty, Whitefield, Reiss, Patel, Kuntal, Singh, Abhimanyu, Morris, Geraint, Parkinson, Dawn, Patil, Amogh, Hamid, Hassan, Syam, Kevin, Singh, Rohit, Menon, Deepak, Crooks, Sophie, Borland, Steven, Rohman, Adam, Nicholson, Alys, Smith, Ben, Hafiz, Nauman, Kolhe, Shivam, Waites, Matthew, Piper, Dani, Westacott, David, Grimshaw, Jessica, Bott, Alasdair, Berry, Alexander, Battle, Joseph, Flannery, Oliver, Iyengar, Karthikeyan P, Thakur, Abdul Wadood, Yousef, Mina, Bansod, Vaibhav, El-nahas, Walaa, Dawe, Edward, Oladeji, Emmanuel, Federer, Simon, Trompeter, Alex, Pritchard, Anna, Shurovi, Badrun, Jordan, Chris, Little, Max, Sivaloganathan, Sivanshankar, Shaunak, Shalin, Watters, Hazel, Luck, Joshua, Zbaeda, Mohamed, Frasquet-Garcia, Antonio, Warner, Christian, Telford, Jeremy, Rooney, Joanna, Attwood, Joseph, Wilson, Faye, Panagiotopoulos, Andreas, Keane, Conal, Scott, Helen, Mazel, Rebecca, Maggs, Joanna, Skinner, Edward, McMunn, Finlay, Lau, Joshua, Ravikumar, Kasetti, Thakker, Dev, Gill, Moneet, McCarthy, Phillip, Fossey, Gavin, Shah, Sohaib, McAlinden, Gavan, McGoldrick, Peter, O'Brien, Scarlett, Patil, Sunit, Millington, Antonia, Umar, Hamza, Sehdev, Simran, Dyer-Hill, Thomas, Yu Kwan, Tsun, Tanagho, Andy, Hagnasir, Ahmed, White, Thomas, Bano, Christopher, Kissin, Eleanor, Ghani, Rafia, Thomas, Philip S W, McMullan, Mark, Walmsley, Matthew, Elgendy, Mohamed, Winstanley, Robert, Round, Joanne, Baxter, Mark, Thompson, Emett, Hogan, Kathryn, Youssef, Khaled, Fetouh, Sherif, Hopper, Graeme P, Simpson, Cameron, Warren, Craig, Waugh, Dominic, Nair, Gopikrishnan, Ballantyne, Andy, Blacklock, Calum, O'Connell, Ciara, Toland, Gemma, McIntyre, Joshua, Ross, Lauren, Badge, Ravindra, Loganathan, Deeraj, Turner, Ian, Ball, Matthew, Maqsood, Saad, Deierl, Krisztian, Beer, Alexander, Tan, Arthur Chen Wun, Mackinnon, Thomas, Gade, Venkat, Gill, James, Yu San, Kay, Archunan, Maheswaran Warren, Shaikh, Mariyam, Ugbah, Onyinye, Uwaoma, Sade, Pillai, Anand, Nath, Upamanyu, Rohan, Farhan-Alanie, M. M., Dixon, J., Irvine, S., Walker, R., and Eardley, W. G. P.

Published
2024
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6. The impact of anticoagulant medications on fragility femur fracture care: The hip and femoral fracture anticoagulation surgical timing evaluation (HASTE) study

Author

Smith, Matthew, Yoong, Andrel, Lim, Jun Wei, Yousef, Omar, McDonald, Stephen, Chileshe, Chinga, Ramus, Camilla, Clements, Christopher, Barrett, Liam, Rockall, Oliver, Geetala, Rahul, Islam, Saif Ul, Nasar, Ahmad, Almond, Kieran, Hassan, Ladan Fatima Yusuf, Shah, Sohan, Brand, Robert Bruce, Yawar, Bakhat, Gilmore, Catherine, McAuley, Daryl, Khan, Waleed, Subramanian, Padmanabhan, Ahluwalia, Aashish, Ozbek, Leyla, Awasthi, Prashant, Sheikh, Hassaan, Barkley, Sarah, Ardolino, Toni, Denning, Alexander, Thiruchandran, Gaj, Fraig, Hossam, Salim, Omar, Iqbal, Rabia, Guy, Stephen, Hogg, Jack, Bagshaw, Oliver, Asmar, Samir, Mitchell, Stephen, Quek, Fang, Fletcher, James, French, Jonathan, Graham, Selina, Sloper, Philip, Sadique, Hammad, Matera, Valentina, Sohail, Zain, Leong, Justin Wei, Issa, Fares, Greasley, Lauren, Marsden, Samuel, Parry, Lucy, Mannan, Syed, Zaheen, Humayoon, Moriarty, Peter, Manning, William, Morris, Timothy, Brockbanks, Carole, Ward, Peter, Pearce, Kim, McMenemy, Louise, Mahmoud, Mohamed, Kieffer, Will, Lal, Aayush, Collis, Justin, Chandrasekaran, Karthik, Foxall-Smith, Michael, Raad, Marjan, Kempshall, Peter, Cheuk, Jocelyn, Leckey, Sam, Gupta, Rishav, Engelke, Daniel, Kemp, Mark, Venkatesan, Aakaash, Hussain, Adnan, Simons, Michiel, Raghavendra, Ram Mohan, Rohra, Satish, Deo, Sunny, Vasarhelyi, Ferenc, Thelwall, Claire, Cullen, Krista, Al-Obaidi, Bilal, Fell, Adam, Thaumeen, Ahmad, Dadabhoy, Maria, Ali, Mira, Ijaz, Sameer, Lin, David, Khan, Basharat, Alsonbaty, Mohamed, Lebe, Moritz, Millan, Ravi Kant, Imam, Sam, Theobald, Emma, Cormack, Jonathan, Sharoff, Lokesh, Eаrdley, Will, Jeyapalan, Rathan, Alcock, Liam, Clayton, Julia, Bates, Natalie, Mahmoud, Yousif, Osborne, Alex, Ralhan, Shvaita, Carpenter, Catriona, Ahmad, Mahmood, Ravi, Sanjeev Musuvathy, Konbaz, Tarek, Lloyd, Thomas, Sheikh, Nomaan, Swealem, Ahmed, Soroya, Emma, Rayan, Faizal, Ward, Thomas, Vasireddy, Aswinkumar, Clarke, Ellisiv, Sikdar, Oishi, Smart, Yat Wing, Windley, Joseph, Ilagan, Belen, Brophy, Edel, Joseph, Sarah, Lowery, Kathryn, Jamjoom, Ammer, Ismayl, Ghiath, Aujla, Randeep, Sambhwani, Sharan, Ramasamy, Arul, Khalaf, Ahmed, Ponugoti, Nikhil, Teng, Wai Huang, Masud, Saqib, Otoibhili, Eghe, Clarkson, Martin, Nafea, Mohamed, Sarhan, Mohamed, Hanna, Shady, Kelly, Andrew, Curtis, Alex, Gourbault, Lysander, Tarhini, Mariam, Platt, Nicholas, Fleming, Thomas, Pemmaraju, Gopalakrishna, Choudri, Mohammed Junaid, Burahee, Abdus, Hassan, Labiba, Hamid, Laveeza, Loveday, David, Edres, Kareem, Schankat, Kerstin, Granger, Luke, Goodbun, Matthew, Parikh, Sunny, Johnson-Lynn, Sarah, Griffiths, Alexandra, Rai, Avinash, Chandler, Henry, Guiot, Luke, Appleyard, Thomas, Robinson, Karen, Fong, Angus, Watts, Anna, Stedman, Tobias, Walton, Victoria, Inman, Dominic, Liaw, Frank, Hadfield, James, McGovern, Julia, Baldock, Thomas, White, Jonathan, Seah, Matthew, Jacob, Neville, Ali, Zaid Haj, Goff, Thomas, Sanalla, Ahmed, Gomati, Ayoub, Nordin, Louise, Hassan, Eslam, Ramadan, Omar, Teoh, Kar Hao, Baskaran, Dinnish, Ngwayi, James, Abbakr, Lina, Blackmore, Noah, Mansukhani, Sameer, Guryel, Enis, Harper, Adam, Cashman, Emily, Brooker, Joanne, Pack, Louise, Regan, Nora, Wagner, Wilhelm, Selim, Amr, Archer, Debbie, McConaghie, Gregory, Patel, Ravi, Gibson, William, Pasapula, Chandra S, Youssef, Hesham, Aziz, Md Abdul, Subhash, Sadhin, Banaszkiewicz, Paul, Elzawahry, Ahmed, Neo, Chryssa, Wei, Nicholas, Bhaskaran, Arun, Sharma, Abhishek, Factor, Danielle, Shahin, Fatma, Shields, David, Ferreira, Catarina Dores Fernandes, Jeyakumar, Gowsikan, Liao, Quintin, Sinnerton, Robert, Ashwood, Neil, Sarhan, Islam, Ker, Andrew, Phelan, Sean, Paxton, James, McAuley, Joseph, Moulton, Lawrence, Mohamed, Ahmed, Dias, Ana, Ho, Beatrice, Francis, Daniel, Miller, Sarah, Phillips, Jon, Jones, Robin, Arthur, Calum, Oag, Erlend, Thutoetsile, Kamogelo, Bell, Katrina, Milne, Kirsty, Whitefield, Reiss, Patel, Kuntal, Singh, Abhimanyu, Morris, Geraint, Parkinson, Dawn, Patil, Amogh, Hamid, Hassan, Syam, Kevin, Singh, Rohit, Menon, Deepak, Crooks, Sophie, Borland, Steven, Rohman, Adam, Nicholson, Alys, Smith, Ben, Hafiz, Nauman, Kolhe, Shivam, Waites, Matthew, Piper, Dani, Westacott, David, Grimshaw, Jessica, Bott, Alasdair, Berry, Alexander, Battle, Joseph, Flannery, Oliver, Iyengar, Karthikeyan P, Thakur, Abdul Wadood, Yousef, Mina, Bansod, Vaibhav, El-nahas, Walaa, Dawe, Edward, Oladeji, Emmanuel, Federer, Simon, Trompeter, Alex, Pritchard, Anna, Shurovi, Badrun, Jordan, Chris, Little, Max, Sivaloganathan, Sivanshankar, Shaunak, Shalin, Watters, Hazel, Luck, Joshua, Zbaeda, Mohamed, Frasquet-Garcia, Antonio, Warner, Christian, Telford, Jeremy, Rooney, Joanna, Attwood, Joseph, Wilson, Faye, Panagiotopoulos, Andreas, Keane, Conal, Scott, Helen, Mazel, Rebecca, Maggs, Joanna, Skinner, Edward, McMunn, Finlay, Lau, Joshua, Ravikumar, Kasetti, Thakker, Dev, Gill, Moneet, McCarthy, Phillip, Fossey, Gavin, Shah, Sohaib, McAlinden, Gavan, McGoldrick, Peter, O'Brien, Scarlett, Patil, Sunit, Millington, Antonia, Umar, Hamza, Sehdev, Simran, Dyer-Hill, Thomas, Yu Kwan, Tsun, Tanagho, Andy, Hagnasir, Ahmed, White, Thomas, Bano, Christopher, Kissin, Eleanor, Ghani, Rafia, Thomas, Philip S W, McMullan, Mark, Walmsley, Matthew, Elgendy, Mohamed, Winstanley, Robert, Round, Joanne, Baxter, Mark, Thompson, Emett, Hogan, Kathryn, Youssef, Khaled, Fetouh, Sherif, Hopper, Graeme P, Simpson, Cameron, Warren, Craig, Waugh, Dominic, Nair, Gopikrishnan, Ballantyne, Andy, Blacklock, Calum, O'Connell, Ciara, Toland, Gemma, McIntyre, Joshua, Ross, Lauren, Badge, Ravindra, Loganathan, Deeraj, Turner, Ian, Ball, Matthew, Maqsood, Saad, Deierl, Krisztian, Beer, Alexander, Tan, Arthur Chen Wun, Mackinnon, Thomas, Gade, Venkat, Gill, James, Yu San, Kay, Archunan, Maheswaran Warren, Shaikh, Mariyam, Ugbah, Onyinye, Uwaoma, Sade, Pillai, Anand, Nath, Upamanyu, Rohan, Farhan-Alanie, M.M., Chinweze, R., Walker, R., and Eardley, W.G.P.

Published
2024
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9. Qualitative and quantitative electrocardiogram parameters in a large cohort of children with duchenne muscle dystrophy in comparison with age-matched healthy subjects: A study from South India

Author

Girija, Manu, Menon, Deepak, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Keertipriya, Madassu, Bardhan, Mainak, Thomas, Priya, Kiran, Valasani, Nishadham, Vikas, Sadasivan, Arun, Huddar, Akshata, Unnikrishnan, Gopi, Inbaraj, Ganagarajan, Krishnamurthy, Arjun, Kramer, Boris, Sathyaprabha, Talakad, and Nalini, Atchayaram

Subjects
Children -- Diseases, Duchenne muscular dystrophy -- Diagnosis -- Care and treatment, Electrocardiography -- Evaluation, Electrocardiogram -- Evaluation, Health
Abstract

Byline: Manu. Girija, Deepak. Menon, Kiran. Polavarapu, Veeramani. Preethish-Kumar, Seena. Vengalil, Saraswati. Nashi, Madassu. Keertipriya, Mainak. Bardhan, Priya. Thomas, Valasani. Kiran, Vikas. Nishadham, Arun. Sadasivan, Akshata. Huddar, Gopi. Unnikrishnan, Ganagarajan. [...]

Published
2024

10. Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India

Author

Nashi, ‬Saraswati, Polavarapu, Kiran, Bardhan, Mainak, Anjanappa, Ram Murthy, Preethish-Kumar, Veeramani, Vengalil, Seena, Padmanabha, Hansashree, Geetha, Thenral S., Prathyusha, P. V., Ramprasad, Vedam, Joshi, Aditi, Chawla, Tanushree, Unnikrishnan, Gopikirshnan, Sharma, Pooja, Huddar, Akshata, Uppilli, Bharathram, Thomas, Abel, Baskar, Dipti, Mathew, Susi, Menon, Deepak, Arunachal, Gautham, Faruq, Mohammed, Thangaraj, Kumarasamy, and Nalini, Atchayaram

Published
2023
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12. Co-VAN study: COVID-19 vaccine associated neurological diseases- an experience from an apex neurosciences centre and review of the literature

Author

Samim, M.M., Dhar, Debjyoti, Arshad, Faheem, Anudeep, D.D.S., Patel, Vishal G., Neeharika, Sriram Ramalakshmi, Dhamija, Kamakshi, Ravindranath, Chowdary Mundlamuri, Yadav, Ravi, Raja, Pritam, Netravathi, M., Menon, Deepak, Holla, Vikram V., Kamble, Nitish L., Pal, Pramod K., Nalini, Atchayaram, and Vengalil, Seena

Published
2023
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14. Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy

Author

Menon, Deepak, Nair, Sruthi, Radhakrishnan, Neelima, Saraf, Udit, and Nair, Muralidharan

Subjects
Seizures (Medicine) -- Development and progression, Levetiracetam, Health
Abstract

Byline: Deepak. Menon, Sruthi. Nair, Neelima. Radhakrishnan, Udit. Saraf, Muralidharan. Nair Objectives: Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, [...]

Published
2023

18. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.

Author

Harikrishna, Ganaraja Valakunja, Padmanabha, Hansashree, Polavarapu, Kiran, Anjanappa, Ram Murthy, Preethish-Kumar, Veeramani, Nandeesh, Bevinahalli Nanjegowda, Vengalil, Seena, Nashi, Saraswati, Baskar, Dipti, Thomas, Aneesha, Bardhan, Mainak, Arunachal, Gautham, Menon, Deepak, Sanka, Sai Bhargava, Manjunath, Nisha, and Nalini, Atchayaram

Published
2024
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19. Sensory neuropathy in spinocerebellar ataxia type 14: A novel phenotype

Author

Nashi, Saraswati, Singh, Raviprakash, Menon, Deepak, Arshad, Faheem, Alladi, Suvarna, and Mahale, Rohan

Subjects
Ataxia -- Genetic aspects, Protein kinases -- Genetic aspects, Health
Abstract

Byline: Saraswati. Nashi, Raviprakash. Singh, Deepak. Menon, Faheem. Arshad, Suvarna. Alladi, Rohan. Mahale Dear Sir, Spinocerebellar ataxias (SCA) are a group of autosomal-dominant disorders presenting as progressive cerebellar ataxia. Apart [...]

Published
2023

23. DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia

Author

Shashi, Sridhar, Nashi, Saraswati, Arunachal, Gautham, Venkatachalam, N., Padmanabha, Hansashree, Mailankody, Pooja, Menon, Deepak, Arshad, Faheem, Alladi, Suvarna, Mathuranath, Pavagada, and Mahale, Rohan

Subjects
Gene mutations -- Case studies, Children -- Diseases, Dystonia -- Case studies -- Genetic aspects -- Causes of, Health
Abstract

Byline: Sridhar. Shashi, Saraswati. Nashi, Gautham. Arunachal, N. Venkatachalam, Hansashree. Padmanabha, Pooja. Mailankody, Deepak. Menon, Faheem. Arshad, Suvarna. Alladi, Pavagada. Mathuranath, Rohan. Mahale Sir, The mutation in the VPS16 gene [...]

Published
2023

25. List of contributors

Author

Akinci, Gulcin, primary, Andersen, Henning, additional, Boulton, Andrew J.M., additional, Bowling, Frank Lee, additional, Bril, Vera, additional, Calcutt, Nigel A., additional, Callaghan, Brian C., additional, Carmichael, Josie, additional, Chandrasekaran, Krish, additional, Colombo, Joseph, additional, Ejskjaer, Niels, additional, Fadavi, Hassan, additional, Feldman, Eva L., additional, Foley, Keeley Jane, additional, Gallagher, Gary, additional, Harno, Hanna, additional, Ishibashi, Fukashi, additional, Karlsson, Páll, additional, Kavarthapu, Venu, additional, Lim, Joyce, additional, Marshall, Andrew G., additional, Marshall, Anne, additional, Menon, Deepak, additional, Pafili, Kalliopi, additional, Papanas, Nikolaos, additional, Peltier, Amanda C., additional, Putko, Brendan N., additional, Rodríguez-Sánchez, Beatriz, additional, Røikjer, Johan, additional, Rosengård-Bärlund, Milla, additional, Russell, James W., additional, Savelieff, Masha G., additional, Selvarajah, Dinesh, additional, Shore, Angela C., additional, Sinclair, Alan, additional, Stouge, Anders, additional, Tavakoli, Mitra, additional, Tesfaye, Solomon, additional, Vas, Prashanth R.J., additional, Yagihashi, Soroku, additional, Yavuz, Dilek Gogas, additional, Yorek, Mark, additional, Zilliox, Lindsay A., additional, and Zochodne, Douglas W., additional

Published
2022
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26. Angiopoietin‐like 4 is upregulated by amphiregulin and activates cell proliferation and migration through p38 kinase in head and neck squamous cell carcinoma.

Author

Kumar, Ajay, Asiedu, Emmanuel, Hefni, Eman, Armstrong, Cheryl, Menon, Deepak, Ma, Tao, Sands, Lauren, Mbadugha, Eberechi, Sodhi, Akrit, Schneider, Abraham, and Montaner, Silvia

Subjects
SQUAMOUS cell carcinoma, PROTEIN kinases, CELL migration, CETUXIMAB, AMPHIREGULIN, PROTEIN kinase B, VASCULAR endothelial growth factors
Abstract

Background: Angiopoietin‐like 4 is a molecular hallmark that correlates with the growth and metastasis of head and neck squamous cell carcinoma, one of the most prevalent cancers worldwide. However, the molecular mechanisms by which angiopoietin‐like 4 promotes head and neck squamous cell carcinoma tumorigenesis are unclear. Methods: Using well‐characterized cell lines of head and neck squamous cell carcinoma development, including human normal oral keratinocytes, dysplastic oral keratinocytes, oral leukoplakia‐derived oral keratinocytes, and head and neck squamous cell carcinoma cell lines, HN13, HN6, HN4, HN12, and CAL27, we investigated the signaling pathways upstream and downstream of angiopoietin‐like 4‐induced head and neck squamous cell carcinoma tumorigenesis. Results: We found that both epidermal growth factor receptor ligands, epithelial growth factor, and amphiregulin led to angiopoietin‐like 4 upregulation in normal oral keratinocytes and dysplastic oral keratinocytes and cooperated with the activation of hypoxia‐inducible factor‐1 in this effect. Interestingly, amphiregulin and angiopoietin‐like 4 were increased in dysplastic oral keratinocytes and head and neck squamous cell carcinoma cell lines, and amphiregulin‐induced activation of cell proliferation was dependent on angiopoietin‐like 4. Although both p38 mitogen‐activated protein kinases (p38 MAPK) and protein kinase B (AKT) were activated by angiopoietin‐like 4, only pharmacological inhibition of p38 MAPK was sufficient to prevent head and neck squamous cell carcinoma cell proliferation and migration. We further observed that angiopoietin‐like 4 promoted the secretion of interleukin 11 (IL‐11), interleukin 12 (IL‐12), interleukin‐1 alpha (IL‐1α), vascular endothelial growth factor, platelet‐derived growth factor (PDGF), and tumour necrosis factor alpha (TNF‐α), cytokines and chemokines previously implicated in head and neck squamous cell carcinoma pathogenesis. Conclusion: Our results demonstrate that angiopoietin‐like 4 is a downstream effector of amphiregulin and promotes head and neck squamous cell carcinoma development both through direct activation of p38 kinase as well as paracrine mechanisms. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

Author

Baskar, Dipti, primary, Polavarapu, Kiran, additional, Preethish-Kumar, Veeramani, additional, Vengalil, Seena, additional, Nashi, Saraswati, additional, Töpf, Ana, additional, Thomas, Aneesha, additional, Sanka, Sai Bhargava, additional, Menon, Deepak, additional, Srivastava, Kosha, additional, Arunachal, Gautham, additional, Nandeesh, Bevinahalli N., additional, Lochmüller, Hanns, additional, and Nalini, Atchayaram, additional

Published
2024
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30. An unusual cause for cauda equina and spastic paraparesis: Two cases of brucellar arachnoiditis without spondylodiscitis or constitutional symptoms

Author

Menon, Deepak, Varghese, Nibu, Nagarathna, Siddaiah, Saini, Jitender, and Netravathi, M.

Subjects
Arachnoiditis -- Case studies -- Complications and side effects, Brucellosis -- Case studies -- Complications and side effects, Cauda equina -- Case studies -- Causes of, Paralysis, Spastic -- Case studies -- Causes of, Health
Abstract

Byline: Deepak. Menon, Nibu. Varghese, Siddaiah. Nagarathna, Jitender. Saini, M. Netravathi Sir, Brucellosis is a bacterial zoonosis caused by gram-negative coccobacilli of brucella species and is notorious to cause chronic [...]

Published
2022

33. Matrix Inversion Using Cholesky Decomposition

Author

Krishnamoorthy, Aravindh and Menon, Deepak

Subjects
Computer Science - Mathematical Software
Abstract

In this paper we present a method for matrix inversion based on Cholesky decomposition with reduced number of operations by avoiding computation of intermediate results; further, we use fixed point simulations to compare the numerical accuracy of the method., Comment: 3pp with minor changes, pre-print; accepted for publication 2013 IEEE Signal Processing: Algorithms, Architectures, Arrangements, and Applications (SPA) conference

Published
2011

34. Rare forms of genetically mediated familial and sporadic amyotrophic lateral sclerosis: An Indian experience

Author

Cheriyan, Anoop, primary, Nashi, Saraswati, additional, Vengalil, Seena, additional, Menon, Deepak, additional, Arunachal, Gautham, additional, Anjanappa, Ram Murthy, additional, Baskar, Dipti, additional, Polavarapu, Kiran, additional, Kumar, Veeramani Preethish, additional, Bardhan, Mainak, additional, Ms, Keertipriya, additional, and Nalini, Atchayaram, additional

Published
2023
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35. Spinal - bulbar muscular atrophy – Clinico-genetics and disease progression in Indian cohort

Author

Baskar, Dipti, primary, Kumar, Veeramani Preethish, additional, Polavarapu, Kiran, additional, Vengalil, Seena, additional, Nashi, Saraswati, additional, Menon, Deepak, additional, Thomas, Aneesha, additional, Sanka, Sai Bhargava, additional, Ms, Keertipriya, additional, Bardhan, Mainak, additional, Thomas, Priya Treesa, additional, Manjunath, Nisha, additional, and Nalini, Atchayaram, additional

Published
2023
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36. Clinico-radiological comparison between different subgroups of inflammatory myositis

Author

Sridhar, S., primary, Nashi, Saraswati, additional, Kulanthaivelu, Karthik, additional, Vengalil, Seena, additional, Menon, Deepak, additional, Oommen, Abel, additional, Baskar, Dipti, additional, Thomas, Aneesha, additional, Kumar, Vijay, additional, Huddar, Akshata, additional, Unnikrishnan, Gopikrishan, additional, Prathyusha, P.V., additional, and Nalini, Atchayaram, additional

Published
2023
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40. Angiopoietin-like 4 binds neuropilins and cooperates with VEGF to induce diabetic macular edema

Author

Sodhi, Akrit, Ma, Tao, Menon, Deepak, Deshpande, Monika, Jee, Kathleen, Dinabandhu, Aumreetam, Vancel, Jordan, Lu, Daoyuan, and Montaner, Silvia

Subjects
R and D Systems, Type 2 diabetes -- Development and progression, Vascular endothelial growth factor, Permeability, Software industry, Edema -- Development and progression, Genes, Tyrosine, Endothelium, Endothelial growth factors, Phenols (Class of compounds), Health care industry
Abstract

The majority of patients with diabetic macular edema (DME), the most common cause of vision loss in working-age Americans, do not respond adequately to current therapies targeting VEGFA. Here, we show that expression of angiopoietin-like 4 (ANGPTL4), a HIF-1-regulated gene product, is increased in the eyes of diabetic mice and patients with DME. We observed that ANGPTL4 and VEGF act synergistically to destabilize the retinal vascular barrier. Interestingly, while ANGPTL4 modestly enhanced tyrosine phosphorylation of VEGF receptor 2, promotion of vascular permeability by ANGPTL4 was independent of this receptor. Instead, we found that ANGPTL4 binds directly to neuropilin 1 (NRP1) and NRP2 on endothelial cells (ECs), leading to rapid activation of the RhoA/ROCK signaling pathway and breakdown of EC-EC junctions. Treatment with a soluble fragment of NRP1 (sNRP1) prevented ANGPTL4 from binding to NRP1 and blocked ANGPTL4-induced activation of RhoA as well as EC permeability in vitro and retinal vascular leakage in diabetic animals in vivo. In addition, sNRP1 reduced the stimulation of EC permeability by aqueous fluid from patients with DME. Collectively, these data identify the ANGPTL4/NRP/RhoA pathway as a therapeutic target for the treatment of DME., Introduction Human angiopoietin-like (ANGPTL) proteins are a family of 8 related gene products that are structurally similar to the angiopoietins (ANGPTs) and that play a role in a wide array [...]

Published
2019
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42. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort

Author

Baskar, Dipti, primary, Veeramani‐Kumar, Preethish, additional, Polavarapu, Kiran, additional, Nashi, Saraswati, additional, Vengalil, Seena, additional, Menon, Deepak, additional, Thomas, Aneesha, additional, Bhargava Sanka, Sai, additional, Muddasu Suhasini, Keerthipriya, additional, Huddar, Akshata, additional, Unnikrishnan, Gopikrishnan, additional, Bardhan, Mainak, additional, Thomas, Priya Treesa, additional, Manjunath, Nisha, additional, and Atchayaram, Nalini, additional

Published
2023
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43. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)

Author

Baskar, Dipti, primary, Vengalil, Seena, additional, Nashi, Saraswati, additional, Bardhan, Mainak, additional, Srivastava, Kosha, additional, Sanka, Sai Bhargava, additional, Polavarapu, Kiran, additional, Menon, Deepak, additional, Preethish-Kumar, Veeramani, additional, Padmanabha, Hansashree, additional, Arunachal, Gautham, additional, and Nalini, Atchayaram, additional

Published
2023
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44. Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.

Author

Baskar, Dipti, Veeramani‐Kumar, Preethish, Polavarapu, Kiran, Nashi, Saraswati, Vengalil, Seena, Menon, Deepak, Thomas, Aneesha, Bhargava Sanka, Sai, Muddasu Suhasini, Keerthipriya, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Bardhan, Mainak, Thomas, Priya Treesa, Manjunath, Nisha, and Atchayaram, Nalini

Subjects
GYNECOMASTIA, EXTREMITIES (Anatomy), FATIGUE (Physiology), X-linked bulbo-spinal atrophy, RETROSPECTIVE studies, MAGNETIC resonance imaging, MUSCLE weakness, TONGUE, AMYOTROPHIC lateral sclerosis, THIGH, PURINES, MUSCLE cramps, PHENOTYPES, GENETICS, NERVE conduction studies, SYMPTOMS
Abstract

Background: Kennedy disease (KD) is a slowly progressive lower motor neuron degenerative disease. The prevalence of KD is unknown in India. Aim: To describe the phenotypic and laboratory features of an Indian cohort of KD patients. Methods: A retrospective study was done on seven genetically confirmed KD patients based on demographic, clinical and laboratory details. Results: Mean age at onset and presentation was 37 ± 11.9 and 44.6 ± 13.5 years respectively. Progressive asymmetric proximal and distal limb weakness was the commonest symptom (57.1%). All patients had motor symptoms along with non‐specific symptoms such as cramps from the onset. Easy fatigability, decremental response along with ptosis were noted in two patients, which was a novel finding. Gynaecomastia and tongue wasting with fasciculations were universal findings. All five patients with nerve conduction studies showed sensorimotor neuropathy. Magnetic resonance imaging muscle done in two patients showed a prominent moth‐eaten appearance in the thigh and posterior leg compartment in one patient. The mean cytosine‐adenine‐guanine repeats were 44 ± 3.7, and there was no association between age of onset or severity with repeat length. Only one patient required an assistive device for ambulation after 15 years of symptom onset. Conclusions: This study showed phenotypic heterogeneity in the Indian cohort. The age of onset was earlier with a slowly progressive indolent course as compared with other ethnic cohorts. This highlights the importance of considering the KD diagnosis in patients with the indolent course and suspected ALS diagnosis even with ptosis and fatigability in an appropriate clinical context. [ABSTRACT FROM AUTHOR]

Published
2024
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49. A novel DHTKD1 gene mutation with ALS like presentation: a case report.

Author

Menon, Deepak, Nashi, Saraswati, Mohanty, Manisha, Dubbal, Rohin, MK, Farsana, Vengalil, Seena, Thomas, Aneesha, Kumar, Vijay, Baskar, Dipti, Arunachal, Gautham, and Nalini, Atchayaram

Subjects
*GENETIC mutation, *GENETIC variation, *GENETIC testing, *RESPIRATORY muscles, *NECK muscles, *NECK pain
Abstract

DHTKD1 is a nuclear gene that encodes "dehydrogenase E1 and transketolase domain-containing 1", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness without significant bulbar and limb involvement. Clinical and electrophysiological examination revealed lower motor neuron involvement with widespread chronic denervation and reinnervation. Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the DHTKD1 gene, which was previously described in CMT2Q. This report highlights the pleotropic phenotypic presentation of DHTKD1 mutation and the need for genetic testing even in sporadic cases of ALS presenting at a later age. [ABSTRACT FROM AUTHOR]

Published
2024
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50. Effect of Laser Power and Diamond Tool Parameters for Micro Laser-Assisted Ductile Mode Material Removal on Fused Silica

Author

Shirzadi Jahromi, Hassan, Mohammadi, Hossein, Kode, Sai K., Ellis, Jonathan D., and Menon, Deepak Ravindra

Abstract

Fused silica is an essential material used in various applications due to its excellent optical and mechanical properties. However, processing it can be challenging due to its high hardness and brittleness, leading to sub-surface damage during grinding and polishing operations. Micro laser-assisted ductile mode material removal is a promising technique for achieving high levels of precision and accuracy in material removal. This technique leads to controlled and precise removal of material without inducing cracks or fractures. Despite its advantages, there are several challenges associated with the process, such as selecting the appropriate laser power and diamond tool geometry. In this study, we employed a Universal Mechanical Tester equipped with modified OPTIMUS, a laser-assisted machining technology to investigate the impact of laser and diamond tool geometry on scratch cut quality. Introducing and increasing the laser power demonstrated an improvement of around 251.7% in cut ductility, leading to a decrease in the severity of sub-surface damage (SSD). Altering the rake angle from -25° to -45° resulted in a 45.3% reduction in the critical depth of cuts (DOCs). However, when laser was employed, the critical DOCs increased around 34.4% in ductile mode material removal on fused silica samples, which underscores the criticality of the laser in this process.

Published
2024
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