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3. Intravascular large cell B lymphoma presenting as central nervous system pseudo-vasculitis: A rare diagnostic challenge.

Author

Vandermeersch, Denis, Mahsouli, Amin, Willemart, Mathilde, Scoppettuolo, Pasquale, Van de Wyngaert, Caroline, Van den Neste, Eric, Camboni, Alessandra, Lawson, Morel, Onofrj, Valeria, and Pothen, Lucie

Abstract

Intravascular large B cell lymphoma (IVLBCL) is a very rare subtype of aggressive non-Hodgkin B cell lymphoma characterized by intravascular proliferation of clonal B lymphocytes, classically associated with pulmonary and cutaneous disease and, less frequently, with central nervous system (CNS) involvement. Brain imaging findings are usually non-specific, with evidence of multiple vascular occlusions and stroke as non-specific multifocal abnormalities. We present an exceptionally rare case of IVLBCL in a patient with unexplained inflammatory syndrome with B symptoms and rapidly progressive neurological impairment, with multifocal hemorrhagic and tumefactive brain lesions seen on MRI. We suggest that in this clinical setting, the presence of tumefactive and hemorrhagic lesions should raise suspicion for IVLBCL and lead to the decision to perform a biopsy, which, nonetheless, remains the diagnostic gold standard. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Abstract TP180: Characteristics and Outcomes of Cerebral Venous Sinus Thrombosis Associated With COVID-19

Author

Scutelnic, Adrian, primary, van de Munckhof, Anita, additional, Miaclin, Angel, additional, AARON, SANJITH, additional, Hameed, Sajid, additional, Wasay, Muhammad, additional, Grosu, Oxana, additional, Krzywicka, Katarzyna, additional, Sanchez van Kammen, Mayte, additional, Lindgren, Erik, additional, Hom Moreira, Tiago, additional, Acampora, Roberto, additional, Alberto, Negro, additional, KARAPANAYIOTIDES, Theodoros, additional, Marialuisa, Zedde, additional, Yaghi, Shadi, additional, Ana, Barbera, additional, Cuadrado Godia, Elisa, additional, La Spina, Paolo, additional, Francesco, Grillo, additional, GIamello, Fabrizio, additional, Nguyen, Thanh, additional, Abdalkader, Mohamad, additional, Alina, Buture, additional, raposo, Nicolas, additional, Tsivogoulis, Georgios, additional, Candelaresi, Paolo, additional, Kristoffersen, Espen Saxhaug, additional, Ciacciarelli, Antonio, additional, Mbroh, Joshua, additional, Katheryna, Antonenko, additional, Kremer Hovinga, Johanna A., additional, Batenkova, Tatjana, additional, Scoppettuolo, Pasquale, additional, Jood, Katarina, additional, Aguiar De Sousa, Diana, additional, Poli, Sven, additional, Tatlisumak, Turgut, additional, Putaala, Jukka, additional, Coutinho, Jonathan M, additional, Ferro, Jose, additional, Arnold, Marcel, additional, and Heldner, Mirjam, additional

Published
2024
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8. Sex differences in cerebral venous sinus thrombosis after adenoviral vaccination against COVID-19

Author

Scutelnic, Adrian, primary, van de Munckhof, Anita, additional, Krzywicka, Katarzyna, additional, van Kammen, Mayte Sánchez, additional, Lindgren, Erik, additional, Cordonnier, Charlotte, additional, Kleinig, Timothy J, additional, Field, Thalia S, additional, Poli, Sven, additional, Lemmens, Robin, additional, Middeldorp, Saskia, additional, Aaron, Sanjith, additional, Borhani-Haghighi, Afshin, additional, Arauz, Antonio, additional, Kremer Hovinga, Johanna A, additional, Günther, Albrecht, additional, Putaala, Jukka, additional, Wasay, Mohammad, additional, Conforto, Adriana Bastos, additional, de Sousa, Diana Aguiar, additional, Jood, Katarina, additional, Tatlisumak, Turgut, additional, Ferro, José M, additional, Coutinho, Jonathan M, additional, Arnold, Marcel, additional, Heldner, Mirjam R, additional, Antonenko, Kateryna, additional, Mbroh, Joshua, additional, Brodard, Justine, additional, Hooshmandi, Etrat, additional, Dizonno, Vanessa, additional, Devroye, Annemie, additional, Ciccone, Alfonso, additional, Wittstock, Matthias, additional, Zimmermann, Julian, additional, Bode, Felix J., additional, Skjelland, Mona, additional, Duan, Jiangang, additional, Hiltunen, Sini, additional, Zuurbier, Susanna M., additional, Petruzzellis, Marco, additional, Sharma, Aarti R., additional, Ghoreishi, Abdoreza, additional, Elkady, Ahmed, additional, Negro, Alberto, additional, Gutschalk, Alexander, additional, Schoenenberger, Silvia, additional, Nagel, Simon, additional, Buture, Alina, additional, Cervera, Alvaro, additional, Paiva Nunes, Ana, additional, Romina Montané Baños, Ana, additional, Tiede, Andreas, additional, Puthuppallil, Anemon, additional, Tuladhar, Anil M., additional, Mengel, Annerose, additional, Medina, Antonio, additional, Hellström Vogel, Åslög, additional, Tawa, Audrey, additional, Aujayeb, Avinash, additional, Ramasamy, Balakrishnan, additional, Casolla, Barbara, additional, Lim Alvin Chew, Beng, additional, Ziaadini, Bentalhoda, additional, Varkey Maramattom, Boby, additional, Buck, Brian, additional, Zanferrari, Carla, additional, Garcia-Esperon, Carlos, additional, Vayne, Caroline, additional, Legault, Catherine, additional, Jacobi, Christian, additional, Pfrepper, Christian, additional, Pelz, Johann, additional, Wahl, Christoph, additional, Kern, Rolf, additional, Tracol, Clement, additional, Soriano, Cristina, additional, Guisado-Alonso, Daniel, additional, Bougon, David, additional, Bal, Deepti, additional, Sergio Zimatore, Domenico, additional, Michalski, Dominik, additional, Blacquiere, Dylan, additional, Johansson, Elias, additional, Cuadrado-Godia, Elisa, additional, Sadeghi-Hokmabadi, Elyar, additional, Carrera, Emmanuel, additional, De Maistre, Emmanuel, additional, Saxhaug Kristoffersen, Espen, additional, Bonneville, Fabrice, additional, Geeraerts, Thomas, additional, Vuillier, Fabrice, additional, Giammello, Fabrizio, additional, D’Onofrio, Florindo, additional, Grillo, Francesco, additional, Caparros, François, additional, Susen, Sophie, additional, Maier, Frank, additional, Tsivgoulis, Georgios, additional, Gulli, Giosue, additional, Frisullo, Giovanni, additional, Franchineau, Guillaume, additional, Cangür, Hakan, additional, Katzberg, Hans, additional, Mozhdehipanah, Hossein, additional, Sibon, Igor, additional, Baharoglu, M. Irem, additional, Masjuan, Jaime, additional, Brar, Jaskiran, additional, Payen, Jean-Francois, additional, Burrow, Jim, additional, Fernandes, João, additional, Octavio López Esparza, Jorge, additional, Oen, Joyce, additional, Schouten, Judith, additional, Ng, Karl, additional, Chatterton, Sophie, additional, Wronski, Miriam, additional, Althaus, Katharina, additional, Garambois, Katia, additional, Derex, Laurent, additional, Puy, Laurent, additional, Poorsaadat, Leila, additional, Valler, Lenise, additional, Januzi de Almeida Rocha, Letícia, additional, Humbertjean, Lisa, additional, Lebrato Hernandez, Lucia, additional, Murillo-Bonilla, Luis, additional, Kellermair, Lukas, additional, Morin Martin, Mar, additional, Sofia Cotelli, Maria, additional, Hernandez Perez, Maria, additional, Zedde, Marialuisa, additional, Carvalho Dias, Mariana, additional, Dubois, Marie-Cecile, additional, Carvalho, Marta, additional, Ghiasian, Masoud, additional, Umaiorubahan, Meenakshisundaram, additional, Kumar Karunakaran, Ravi, additional, Roozbeh, Mehrdad, additional, Romoli, Michele, additional, Miranda, Miguel, additional, Saadatnia, Mohammad, additional, Bandettini di Poggio, Monica, additional, Scholz, Moritz J., additional, Kahnis, Robert, additional, Almasi-Dooghaee, Mostafa, additional, Hoseininejad Mir, Nahid, additional, Ichaporia, Nasli R., additional, Kumar Paramasivan, Naveen, additional, Erat Sreedharan, Sapna, additional, Sylaja, PN, additional, Raposo, Nicolas, additional, Fadakar, Nima, additional, Kruyt, Nyika, additional, Detante, Olivier, additional, Cuisenier, Pauline, additional, Huet, Olivier, additional, Sharma, Pankaj, additional, Candelaresi, Paolo, additional, Scoppettuolo, Pasquale, additional, Reiner, Peggy, additional, Nemati, Reza, additional, Vieira, Ricardo, additional, Goh, Rudy, additional, Murphy, Seán, additional, Timsit, Serge, additional, Coutts, Shelagh, additional, Sharma, Shyam S., additional, Bal, Simerpreet, additional, Kaul, Subhash, additional, Karapanayiotides, Theodoros, additional, Cox, Thomas, additional, Gattringer, Thomas, additional, Mathew, Thomas, additional, Bartsch, Thorsten, additional, Shaygannejad, Vahid, additional, Garcia-Talavera, Veronica, additional, Palma, Vincenzo, additional, Arslan, Yıldız, additional, Mirzaasgari, Zahra, additional, Yavari, Zeinab, additional, Zamani, Zohreh, additional, Bakchoul, Tamam, additional, Levi, Marcel, additional, and van Gorp, Eric C.M., additional

Published
2023
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9. Cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia in middle-income countries

Author

van de Munckhof, Anita, primary, Borhani-Haghighi, Afshin, additional, Aaron, Sanjith, additional, Krzywicka, Katarzyna, additional, van Kammen, Mayte Sánchez, additional, Cordonnier, Charlotte, additional, Kleinig, Timothy J, additional, Field, Thalia S, additional, Poli, Sven, additional, Lemmens, Robin, additional, Scutelnic, Adrian, additional, Lindgren, Erik, additional, Duan, Jiangang, additional, Arslan, Yıldız, additional, van Gorp, Eric CM, additional, Kremer Hovinga, Johanna A, additional, Günther, Albrecht, additional, Jood, Katarina, additional, Tatlisumak, Turgut, additional, Putaala, Jukka, additional, Heldner, Mirjam R, additional, Arnold, Marcel, additional, de Sousa, Diana Aguiar, additional, Wasay, Mohammad, additional, Arauz, Antonio, additional, Conforto, Adriana Bastos, additional, Ferro, José M, additional, Coutinho, Jonathan M, additional, Mbroh, Joshua, additional, Ciccone, Alfonso, additional, Wittstock, Matthias, additional, Zimmermann, Julian, additional, Bode, Felix J, additional, Skjelland, Mona, additional, Dizonno, Vanessa, additional, Devroye, Annemie, additional, Hiltunen, Sini, additional, Petruzzellis, Marco, additional, Bakchoul, Tamam, additional, Levi, Marcel, additional, Middeldorp, Saskia, additional, Sharma, Aarti R, additional, Ghoreishi, Abdoreza, additional, Elkady, Ahmed, additional, Negro, Alberto, additional, Gutschalk, Alexander, additional, Buture, Alina, additional, Cervera, Alvaro, additional, Paiva Nunes, Ana, additional, Romina Montané Baños, Ana, additional, Tiede, Andreas, additional, Tuladhar, Anil M, additional, Mengel, Annerose, additional, Medina, Antonio, additional, Aujayeb, Avinash, additional, Ramasamy, Balakrishnan, additional, Casolla, Barbara, additional, Spratt, Neil, additional, Ziaadini, Bentolhoda, additional, Varkey Maramattom, Boby, additional, Buck, Brian, additional, Garcia-Esperon, Carlos, additional, Vayne, Caroline, additional, Jacobi, Christian, additional, Pfrepper, Christian, additional, Bal, Deepti, additional, Sergio Zimatore, Domenico, additional, Michalski, Dominik, additional, Blacquiere, Dylan, additional, Johansson, Elias, additional, Cuadrado-Godia, Elisa, additional, Sadeghi-Hokmabadi, Elyar, additional, Carrera, Emmanuel, additional, Maistre, Emmanuel De, additional, Saxhaug Kristoffersen, Espen, additional, Hooshmandi, Etrat, additional, Bonneville, Fabrice, additional, Vuillier, Fabrice, additional, Giammello, Fabrizio, additional, D’Onofrio, Florindo, additional, Tsivgoulis, Georgios, additional, Gulli, Giosue, additional, Katzberg, Hans, additional, Sibon, Igor, additional, Baharoglu, Irem, additional, Masjuan, Jaime, additional, Fernandes, João, additional, Pelz, Johann, additional, Octavio López Esparza, Jorge, additional, Schouten, Judith, additional, Ng, Karl, additional, Derex, Laurent, additional, Puy, Laurent, additional, Poorsaadat, Leila, additional, Valler, Lenise, additional, Januzi de Almeida Rocha, Letícia, additional, Murillo-Bonilla, Luis, additional, Kellermair, Lukas, additional, Morin Martin, Mar, additional, Sofia Cotelli, Maria, additional, Hernandez Perez, Maria, additional, Zedde, Marialuisa, additional, Carvalho Dias, Mariana, additional, Carvalho, Marta, additional, Ghiasian, Masoud, additional, Umaiorubahan, Meenakshisundaram, additional, Roozbeh, Mehrdad, additional, Romoli, Michele, additional, Miranda, Miguel, additional, Wronski, Miriam, additional, Saadatnia, Mohammad, additional, Bandettini di Poggio, Monica, additional, Almasi-Dooghaee, Mostafa, additional, Hoseininejad Mir, Nahid, additional, Ichaporia, Nasli R, additional, Kumar Paramasivan, Naveen, additional, Raposo, Nicolas, additional, Fadakar, Nima, additional, Kruyt, Nyika, additional, Detante, Olivier, additional, Sharma, Pankaj, additional, Candelaresi, Paolo, additional, Scoppettuolo, Pasquale, additional, Reiner, Peggy, additional, Sylaja, PN, additional, Kumar Karunakaran, Ravi, additional, Vieira, Ricardo, additional, Kern, Rolf, additional, Goh, Rudy, additional, Erat Sreedharan, Sapna, additional, Murphy, Seán, additional, Timsit, Serge, additional, Coutts, Shelagh, additional, Sharma, Shyam S, additional, Schoenenberger, Silvia, additional, Nagel, Simon, additional, Kaul, Subhash, additional, Karapanayiotides, Theodoros, additional, Gattringer, Thomas, additional, Mathew, Thomas, additional, Bartsch, Thorsten, additional, Palma, Vincenzo, additional, Mirzaasgari, Zahra, additional, Zamani, Zohreh, additional, Mirahmadizadeh, Alireza, additional, Gutierrez-Romero, Alonso, additional, Iván Valdes-Ferrer, Ivan, additional, Elizabeth Ceballos-Liceaga, Santa, additional, and Maria Santibañez-Copado, Ana, additional

Published
2023
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10. Sex differences in cerebral venous sinus thrombosis after adenoviral vaccination against COVID-19

Author

Scutelnic, Adrian, van de Munckhof, Anita, Krzywicka, Katarzyna, van Kammen, Mayte Sánchez, Lindgren, Erik, Cordonnier, Charlotte, Kleinig, Timothy J., Field, Thalia S., Poli, Sven, Lemmens, Robin, Middeldorp, Saskia, Aaron, Sanjith, Borhani-Haghighi, Afshin, Arauz, Antonio, Kremer Hovinga, Johanna A., Günther, Albrecht, Putaala, Jukka, Wasay, Mohammad, Conforto, Adriana Bastos, de Sousa, Diana Aguiar, Jood, Katarina, Tatlisumak, Turgut, Ferro, José M., Coutinho, Jonathan M., Arnold, Marcel, Heldner, Mirjam R., Antonenko, Kateryna, Mbroh, Joshua, Brodard, Justine, Hooshmandi, Etrat, Dizonno, Vanessa, Devroye, Annemie, Ciccone, Alfonso, Wittstock, Matthias, Zimmermann, Julian, Bode, Felix J., Skjelland, Mona, Duan, Jiangang, Hiltunen, Sini, Zuurbier, Susanna M., Petruzzellis, Marco, Sharma, Aarti R., Ghoreishi, Abdoreza, Elkady, Ahmed, Negro, Alberto, Gutschalk, Alexander, Schoenenberger, Silvia, Nagel, Simon, Buture, Alina, Cervera, Alvaro, Paiva Nunes, Ana, Romina Montané Baños, Ana, Tiede, Andreas, Puthuppallil, Anemon, Tuladhar, Anil M., Mengel, Annerose, Medina, Antonio, Hellström Vogel, Åslög, Tawa, Audrey, Aujayeb, Avinash, Ramasamy, Balakrishnan, Casolla, Barbara, Lim Alvin Chew, Beng, Ziaadini, Bentalhoda, Varkey Maramattom, Boby, Buck, Brian, Zanferrari, Carla, Garcia-Esperon, Carlos, Vayne, Caroline, Legault, Catherine, Jacobi, Christian, Pfrepper, Christian, Pelz, Johann, Wahl, Christoph, Kern, Rolf, Tracol, Clement, Soriano, Cristina, Guisado-Alonso, Daniel, Bougon, David, Bal, Deepti, Sergio Zimatore, Domenico, Michalski, Dominik, Blacquiere, Dylan, Johansson, Elias, Cuadrado-Godia, Elisa, Sadeghi-Hokmabadi, Elyar, Carrera, Emmanuel, De Maistre, Emmanuel, Saxhaug Kristoffersen, Espen, Bonneville, Fabrice, Geeraerts, Thomas, Vuillier, Fabrice, Giammello, Fabrizio, D’Onofrio, Florindo, Grillo, Francesco, Caparros, François, Susen, Sophie, Maier, Frank, Tsivgoulis, Georgios, Gulli, Giosue, Frisullo, Giovanni, Franchineau, Guillaume, Cangür, Hakan, Katzberg, Hans, Mozhdehipanah, Hossein, Sibon, Igor, Baharoglu, M. Irem, Masjuan, Jaime, Brar, Jaskiran, Payen, Jean Francois, Burrow, Jim, Fernandes, João, Octavio López Esparza, Jorge, Oen, Joyce, Schouten, Judith, Ng, Karl, Chatterton, Sophie, Wronski, Miriam, Althaus, Katharina, Garambois, Katia, Derex, Laurent, Puy, Laurent, Poorsaadat, Leila, Valler, Lenise, Januzi de Almeida Rocha, Letícia, Humbertjean, Lisa, Lebrato Hernandez, Lucia, Murillo-Bonilla, Luis, Kellermair, Lukas, Morin Martin, Mar, Sofia Cotelli, Maria, Hernandez Perez, Maria, Zedde, Marialuisa, Carvalho Dias, Mariana, Dubois, Marie Cecile, Carvalho, Marta, Ghiasian, Masoud, Umaiorubahan, Meenakshisundaram, Kumar Karunakaran, Ravi, Roozbeh, Mehrdad, Romoli, Michele, Miranda, Miguel, Saadatnia, Mohammad, Bandettini di Poggio, Monica, Scholz, Moritz J., Kahnis, Robert, Almasi-Dooghaee, Mostafa, Hoseininejad Mir, Nahid, Ichaporia, Nasli R., Kumar Paramasivan, Naveen, Erat Sreedharan, Sapna, Sylaja, P. N., Raposo, Nicolas, Fadakar, Nima, Kruyt, Nyika, Detante, Olivier, Cuisenier, Pauline, Huet, Olivier, Sharma, Pankaj, Candelaresi, Paolo, Scoppettuolo, Pasquale, Reiner, Peggy, Nemati, Reza, Vieira, Ricardo, Goh, Rudy, Murphy, Seán, Timsit, Serge, Coutts, Shelagh, Sharma, Shyam S., Bal, Simerpreet, Kaul, Subhash, Karapanayiotides, Theodoros, Cox, Thomas, Gattringer, Thomas, Mathew, Thomas, Bartsch, Thorsten, Shaygannejad, Vahid, Garcia-Talavera, Veronica, Palma, Vincenzo, Arslan, Yıldız, Mirzaasgari, Zahra, Yavari, Zeinab, Zamani, Zohreh, Bakchoul, Tamam, Levi, Marcel, van Gorp, Eric C.M., Scutelnic, Adrian, van de Munckhof, Anita, Krzywicka, Katarzyna, van Kammen, Mayte Sánchez, Lindgren, Erik, Cordonnier, Charlotte, Kleinig, Timothy J., Field, Thalia S., Poli, Sven, Lemmens, Robin, Middeldorp, Saskia, Aaron, Sanjith, Borhani-Haghighi, Afshin, Arauz, Antonio, Kremer Hovinga, Johanna A., Günther, Albrecht, Putaala, Jukka, Wasay, Mohammad, Conforto, Adriana Bastos, de Sousa, Diana Aguiar, Jood, Katarina, Tatlisumak, Turgut, Ferro, José M., Coutinho, Jonathan M., Arnold, Marcel, Heldner, Mirjam R., Antonenko, Kateryna, Mbroh, Joshua, Brodard, Justine, Hooshmandi, Etrat, Dizonno, Vanessa, Devroye, Annemie, Ciccone, Alfonso, Wittstock, Matthias, Zimmermann, Julian, Bode, Felix J., Skjelland, Mona, Duan, Jiangang, Hiltunen, Sini, Zuurbier, Susanna M., Petruzzellis, Marco, Sharma, Aarti R., Ghoreishi, Abdoreza, Elkady, Ahmed, Negro, Alberto, Gutschalk, Alexander, Schoenenberger, Silvia, Nagel, Simon, Buture, Alina, Cervera, Alvaro, Paiva Nunes, Ana, Romina Montané Baños, Ana, Tiede, Andreas, Puthuppallil, Anemon, Tuladhar, Anil M., Mengel, Annerose, Medina, Antonio, Hellström Vogel, Åslög, Tawa, Audrey, Aujayeb, Avinash, Ramasamy, Balakrishnan, Casolla, Barbara, Lim Alvin Chew, Beng, Ziaadini, Bentalhoda, Varkey Maramattom, Boby, Buck, Brian, Zanferrari, Carla, Garcia-Esperon, Carlos, Vayne, Caroline, Legault, Catherine, Jacobi, Christian, Pfrepper, Christian, Pelz, Johann, Wahl, Christoph, Kern, Rolf, Tracol, Clement, Soriano, Cristina, Guisado-Alonso, Daniel, Bougon, David, Bal, Deepti, Sergio Zimatore, Domenico, Michalski, Dominik, Blacquiere, Dylan, Johansson, Elias, Cuadrado-Godia, Elisa, Sadeghi-Hokmabadi, Elyar, Carrera, Emmanuel, De Maistre, Emmanuel, Saxhaug Kristoffersen, Espen, Bonneville, Fabrice, Geeraerts, Thomas, Vuillier, Fabrice, Giammello, Fabrizio, D’Onofrio, Florindo, Grillo, Francesco, Caparros, François, Susen, Sophie, Maier, Frank, Tsivgoulis, Georgios, Gulli, Giosue, Frisullo, Giovanni, Franchineau, Guillaume, Cangür, Hakan, Katzberg, Hans, Mozhdehipanah, Hossein, Sibon, Igor, Baharoglu, M. Irem, Masjuan, Jaime, Brar, Jaskiran, Payen, Jean Francois, Burrow, Jim, Fernandes, João, Octavio López Esparza, Jorge, Oen, Joyce, Schouten, Judith, Ng, Karl, Chatterton, Sophie, Wronski, Miriam, Althaus, Katharina, Garambois, Katia, Derex, Laurent, Puy, Laurent, Poorsaadat, Leila, Valler, Lenise, Januzi de Almeida Rocha, Letícia, Humbertjean, Lisa, Lebrato Hernandez, Lucia, Murillo-Bonilla, Luis, Kellermair, Lukas, Morin Martin, Mar, Sofia Cotelli, Maria, Hernandez Perez, Maria, Zedde, Marialuisa, Carvalho Dias, Mariana, Dubois, Marie Cecile, Carvalho, Marta, Ghiasian, Masoud, Umaiorubahan, Meenakshisundaram, Kumar Karunakaran, Ravi, Roozbeh, Mehrdad, Romoli, Michele, Miranda, Miguel, Saadatnia, Mohammad, Bandettini di Poggio, Monica, Scholz, Moritz J., Kahnis, Robert, Almasi-Dooghaee, Mostafa, Hoseininejad Mir, Nahid, Ichaporia, Nasli R., Kumar Paramasivan, Naveen, Erat Sreedharan, Sapna, Sylaja, P. N., Raposo, Nicolas, Fadakar, Nima, Kruyt, Nyika, Detante, Olivier, Cuisenier, Pauline, Huet, Olivier, Sharma, Pankaj, Candelaresi, Paolo, Scoppettuolo, Pasquale, Reiner, Peggy, Nemati, Reza, Vieira, Ricardo, Goh, Rudy, Murphy, Seán, Timsit, Serge, Coutts, Shelagh, Sharma, Shyam S., Bal, Simerpreet, Kaul, Subhash, Karapanayiotides, Theodoros, Cox, Thomas, Gattringer, Thomas, Mathew, Thomas, Bartsch, Thorsten, Shaygannejad, Vahid, Garcia-Talavera, Veronica, Palma, Vincenzo, Arslan, Yıldız, Mirzaasgari, Zahra, Yavari, Zeinab, Zamani, Zohreh, Bakchoul, Tamam, Levi, Marcel, and van Gorp, Eric C.M.

Abstract

Introduction: Cerebral venous sinus thrombosis associated with vaccine-induced immune thrombotic thrombocytopenia (CVST-VITT) is a severe disease with high mortality. There are few data on sex differences in CVST-VITT. The aim of our study was to investigate the differences in presentation, treatment, clinical course, complications, and outcome of CVST-VITT between women and men. Patients and methods: We used data from an ongoing international registry on CVST-VITT. VITT was diagnosed according to the Pavord criteria. We compared the characteristics of CVST-VITT in women and men. Results: Of 133 patients with possible, probable, or definite CVST-VITT, 102 (77%) were women. Women were slightly younger [median age 42 (IQR 28–54) vs 45 (28–56)], presented more often with coma (26% vs 10%) and had a lower platelet count at presentation [median (IQR) 50x109/L (28–79) vs 68 (30–125)] than men. The nadir platelet count was lower in women [median (IQR) 34 (19–62) vs 53 (20–92)]. More women received endovascular treatment than men (15% vs 6%). Rates of treatment with intravenous immunoglobulins were similar (63% vs 66%), as were new venous thromboembolic events (14% vs 14%) and major bleeding complications (30% vs 20%). Rates of good functional outcome (modified Rankin Scale 0-2, 42% vs 45%) and in-hospital death (39% vs 41%) did not differ. Discussion and conclusions: Three quarters of CVST-VITT patients in this study were women. Women were more severely affected at presentation, but clinical course and outcome did not differ between women and men. VITT-specific treatments were overall similar, but more women received endovascular treatment.

Published
2023

11. Cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia in middle-income countries

Author

van de Munckhof, Anita, Borhani-Haghighi, Afshin, Aaron, Sanjith, Krzywicka, Katarzyna, van Kammen, Mayte Sánchez, Cordonnier, Charlotte, Kleinig, Timothy J., Field, Thalia S., Poli, Sven, Lemmens, Robin, Scutelnic, Adrian, Lindgren, Erik, Duan, Jiangang, Arslan, Yıldız, van Gorp, Eric C.M., Kremer Hovinga, Johanna A., Günther, Albrecht, Jood, Katarina, Tatlisumak, Turgut, Putaala, Jukka, Heldner, Mirjam R., Arnold, Marcel, de Sousa, Diana Aguiar, Wasay, Mohammad, Arauz, Antonio, Conforto, Adriana Bastos, Ferro, José M., Coutinho, Jonathan M., Mbroh, Joshua, Ciccone, Alfonso, Wittstock, Matthias, Zimmermann, Julian, Bode, Felix J., Skjelland, Mona, Dizonno, Vanessa, Devroye, Annemie, Hiltunen, Sini, Petruzzellis, Marco, Bakchoul, Tamam, Levi, Marcel, Middeldorp, Saskia, Sharma, Aarti R., Ghoreishi, Abdoreza, Elkady, Ahmed, Negro, Alberto, Gutschalk, Alexander, Buture, Alina, Cervera, Alvaro, Paiva Nunes, Ana, Romina Montané Baños, Ana, Tiede, Andreas, Tuladhar, Anil M., Mengel, Annerose, Medina, Antonio, Aujayeb, Avinash, Ramasamy, Balakrishnan, Casolla, Barbara, Spratt, Neil, Ziaadini, Bentolhoda, Varkey Maramattom, Boby, Buck, Brian, Garcia-Esperon, Carlos, Vayne, Caroline, Jacobi, Christian, Pfrepper, Christian, Bal, Deepti, Sergio Zimatore, Domenico, Michalski, Dominik, Blacquiere, Dylan, Johansson, Elias, Cuadrado-Godia, Elisa, Sadeghi-Hokmabadi, Elyar, Carrera, Emmanuel, Maistre, Emmanuel De, Saxhaug Kristoffersen, Espen, Hooshmandi, Etrat, Bonneville, Fabrice, Vuillier, Fabrice, Giammello, Fabrizio, D’Onofrio, Florindo, Tsivgoulis, Georgios, Gulli, Giosue, Katzberg, Hans, Sibon, Igor, Baharoglu, Irem, Masjuan, Jaime, Fernandes, João, Pelz, Johann, Octavio López Esparza, Jorge, Schouten, Judith, Ng, Karl, Derex, Laurent, Puy, Laurent, Poorsaadat, Leila, Valler, Lenise, Januzi de Almeida Rocha, Letícia, Murillo-Bonilla, Luis, Kellermair, Lukas, Morin Martin, Mar, Sofia Cotelli, Maria, Hernandez Perez, Maria, Zedde, Marialuisa, Carvalho Dias, Mariana, Carvalho, Marta, Ghiasian, Masoud, Umaiorubahan, Meenakshisundaram, Roozbeh, Mehrdad, Romoli, Michele, Miranda, Miguel, Wronski, Miriam, Saadatnia, Mohammad, Bandettini di Poggio, Monica, Almasi-Dooghaee, Mostafa, Hoseininejad Mir, Nahid, Ichaporia, Nasli R., Kumar Paramasivan, Naveen, Raposo, Nicolas, Fadakar, Nima, Kruyt, Nyika, Detante, Olivier, Sharma, Pankaj, Candelaresi, Paolo, Scoppettuolo, Pasquale, Reiner, Peggy, Sylaja, P. N., Kumar Karunakaran, Ravi, Vieira, Ricardo, Kern, Rolf, Goh, Rudy, Erat Sreedharan, Sapna, Murphy, Seán, Timsit, Serge, Coutts, Shelagh, Sharma, Shyam S., Schoenenberger, Silvia, Nagel, Simon, Kaul, Subhash, Karapanayiotides, Theodoros, Gattringer, Thomas, Mathew, Thomas, Bartsch, Thorsten, Palma, Vincenzo, Mirzaasgari, Zahra, Zamani, Zohreh, Mirahmadizadeh, Alireza, Gutierrez-Romero, Alonso, Iván Valdes-Ferrer, Ivan, Elizabeth Ceballos-Liceaga, Santa, Maria Santibañez-Copado, Ana, van de Munckhof, Anita, Borhani-Haghighi, Afshin, Aaron, Sanjith, Krzywicka, Katarzyna, van Kammen, Mayte Sánchez, Cordonnier, Charlotte, Kleinig, Timothy J., Field, Thalia S., Poli, Sven, Lemmens, Robin, Scutelnic, Adrian, Lindgren, Erik, Duan, Jiangang, Arslan, Yıldız, van Gorp, Eric C.M., Kremer Hovinga, Johanna A., Günther, Albrecht, Jood, Katarina, Tatlisumak, Turgut, Putaala, Jukka, Heldner, Mirjam R., Arnold, Marcel, de Sousa, Diana Aguiar, Wasay, Mohammad, Arauz, Antonio, Conforto, Adriana Bastos, Ferro, José M., Coutinho, Jonathan M., Mbroh, Joshua, Ciccone, Alfonso, Wittstock, Matthias, Zimmermann, Julian, Bode, Felix J., Skjelland, Mona, Dizonno, Vanessa, Devroye, Annemie, Hiltunen, Sini, Petruzzellis, Marco, Bakchoul, Tamam, Levi, Marcel, Middeldorp, Saskia, Sharma, Aarti R., Ghoreishi, Abdoreza, Elkady, Ahmed, Negro, Alberto, Gutschalk, Alexander, Buture, Alina, Cervera, Alvaro, Paiva Nunes, Ana, Romina Montané Baños, Ana, Tiede, Andreas, Tuladhar, Anil M., Mengel, Annerose, Medina, Antonio, Aujayeb, Avinash, Ramasamy, Balakrishnan, Casolla, Barbara, Spratt, Neil, Ziaadini, Bentolhoda, Varkey Maramattom, Boby, Buck, Brian, Garcia-Esperon, Carlos, Vayne, Caroline, Jacobi, Christian, Pfrepper, Christian, Bal, Deepti, Sergio Zimatore, Domenico, Michalski, Dominik, Blacquiere, Dylan, Johansson, Elias, Cuadrado-Godia, Elisa, Sadeghi-Hokmabadi, Elyar, Carrera, Emmanuel, Maistre, Emmanuel De, Saxhaug Kristoffersen, Espen, Hooshmandi, Etrat, Bonneville, Fabrice, Vuillier, Fabrice, Giammello, Fabrizio, D’Onofrio, Florindo, Tsivgoulis, Georgios, Gulli, Giosue, Katzberg, Hans, Sibon, Igor, Baharoglu, Irem, Masjuan, Jaime, Fernandes, João, Pelz, Johann, Octavio López Esparza, Jorge, Schouten, Judith, Ng, Karl, Derex, Laurent, Puy, Laurent, Poorsaadat, Leila, Valler, Lenise, Januzi de Almeida Rocha, Letícia, Murillo-Bonilla, Luis, Kellermair, Lukas, Morin Martin, Mar, Sofia Cotelli, Maria, Hernandez Perez, Maria, Zedde, Marialuisa, Carvalho Dias, Mariana, Carvalho, Marta, Ghiasian, Masoud, Umaiorubahan, Meenakshisundaram, Roozbeh, Mehrdad, Romoli, Michele, Miranda, Miguel, Wronski, Miriam, Saadatnia, Mohammad, Bandettini di Poggio, Monica, Almasi-Dooghaee, Mostafa, Hoseininejad Mir, Nahid, Ichaporia, Nasli R., Kumar Paramasivan, Naveen, Raposo, Nicolas, Fadakar, Nima, Kruyt, Nyika, Detante, Olivier, Sharma, Pankaj, Candelaresi, Paolo, Scoppettuolo, Pasquale, Reiner, Peggy, Sylaja, P. N., Kumar Karunakaran, Ravi, Vieira, Ricardo, Kern, Rolf, Goh, Rudy, Erat Sreedharan, Sapna, Murphy, Seán, Timsit, Serge, Coutts, Shelagh, Sharma, Shyam S., Schoenenberger, Silvia, Nagel, Simon, Kaul, Subhash, Karapanayiotides, Theodoros, Gattringer, Thomas, Mathew, Thomas, Bartsch, Thorsten, Palma, Vincenzo, Mirzaasgari, Zahra, Zamani, Zohreh, Mirahmadizadeh, Alireza, Gutierrez-Romero, Alonso, Iván Valdes-Ferrer, Ivan, Elizabeth Ceballos-Liceaga, Santa, and Maria Santibañez-Copado, Ana

Abstract

Background: Adenovirus-based COVID-19 vaccines are extensively used in low- and middle-income countries (LMICs). Remarkably, cases of cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia (CVST-VITT) have rarely been reported from LMICs. Aims: We studied the frequency, manifestations, treatment, and outcomes of CVST-VITT in LMICs. Methods: We report data from an international registry on CVST after COVID-19 vaccination. VITT was classified according to the Pavord criteria. We compared CVST-VITT cases from LMICs to cases from high-income countries (HICs). Results: Until August 2022, 228 CVST cases were reported, of which 63 were from LMICs (all middle-income countries [MICs]: Brazil, China, India, Iran, Mexico, Pakistan, Turkey). Of these 63, 32 (51%) met the VITT criteria, compared to 103 of 165 (62%) from HICs. Only 5 of the 32 (16%) CVST-VITT cases from MICs had definite VITT, mostly because anti-platelet factor 4 antibodies were often not tested. The median age was 26 (interquartile range [IQR] 20–37) versus 47 (IQR 32–58) years, and the proportion of women was 25 of 32 (78%) versus 77 of 103 (75%) in MICs versus HICs, respectively. Patients from MICs were diagnosed later than patients from HICs (1/32 [3%] vs. 65/103 [63%] diagnosed before May 2021). Clinical manifestations, including intracranial hemorrhage, were largely similar as was intravenous immunoglobulin use. In-hospital mortality was lower in MICs (7/31 [23%, 95% confidence interval (CI) 11–40]) than in HICs (44/102 [43%, 95% CI 34–53], p = 0.039). Conclusions: The number of CVST-VITT cases reported from LMICs was small despite the widespread use of adenoviral vaccines. Clinical manifestations and treatment of CVST-VITT cases were largely similar in MICs and HICs, while mortality was lower in patients from MICs.

Published
2023

12. Utility of A2L2score in acute ischemic stroke patient triage: the “H.uni” experience

Author

Scoppettuolo, Pasquale, Raymackers, Jean-Marc, Rutgers, Matthieu Pierre, Poma, Jean-François, Goffette, Pierre, Hammer, Frank, and Peeters, André

Abstract

Background and aims: Two or more National Institutes of Health Stroke Scale (NIHSS) points on each motor items (A2L2score) have shown good accuracy in predicting large vessel occlusion (LVO) in the prehospital setting of acute ischemic stroke (AIS) care. We aimed to study this score for LVO prediction in our stroke network and predictors of poor outcome (PO) after mechanical thrombectomy (MT). Methods: From our Safe Implementation of Thrombolysis in Stroke (SITS) registry including patients receiving reperfusion therapy for AIS, we retrospectively computed the A2L2score from the admission NIHSS to test the diagnostic accuracy for LVO prediction. Multivariable analysis for independent predictors of LVO on the entire cohort and PO from patients with LVO were performed. Results: From the 853 patients with AIS (67% LVO), A2L2was positive in 52%. A2L2score (Odds ratio [OR] 4.6;95%CI 3.36-6.34), smoking (OR 2.1;95%CI 1.14-3.85), atrial fibrillation (OR 1.6;95%CI1.1-2.4) and younger age (OR 0.98;95%CI0.97-0.99) were independent predictors of LVO. A2L2score showed 82%/49% positive/negative predictive values with 66% accuracy (64%/72% sensitivity/specificity) for LVO prediction. Age (OR 1.05;95%CI 1.03-1.07), atrial fibrillation (OR 4.85;95%CI 1.5-15.7), diabetes (OR 2.62;95% CI 1.14-6.05), dyslipidemia (OR 2;95% CI 1.04-3.87), A2L2score (OR 2.68;95% CI 1.45-4.98), longer onset-to-groin time (OR 1.003;95% CI 1.001-1.01), MT procedure (OR 1.01;95%CI 1.003-1.02) general anaesthesia (OR 2.06;95% CI 1.1-3.83) and symptomatic intracranial hemorrhage (OR 12.10;95%CI 3.15-46.44) were independent predictors of PO. Conclusions: A2L2score independently predicted LVO and PO after MT. Patient characteristics and procedural factors determined PO of LVO patients after MT.

Published
2024
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14. Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Author

Verstraeten, Aline, Perik, Melanie H.A.M., Baranowska, Anna A., Meester, Josephina A.N., Van Den Heuvel, Lotte, Bastianen, Jarl, Kempers, Marlies, Krapels, Ingrid P.C., Maas, Angela, Rideout, Andrea, Vandersteen, Anthony, Sobey, Glenda, Johnson, Diana, Fransen, Erik, Ghali, Neeti, Webb, Tom, Al-Hussaini, Abtehale, de Leeuw, Peter, Delmotte, Philippe, Lopez-Sublet, Marilucy, Pappaccogli, Marco, Sprynger, Muriel, Toubiana, Laurent, Van Laer, Lut, Van Dijk, Fleur S., Vikkula, Miikka, Samani, Nilesh J., Persu, Alexandre, Adlam, David, Loeys, Bart, Beauloye, Christophe, Chenu, Patrick, Hammer, Frank, Goffette, Pierre, Astarci, Parla, Peeters, André, Verhelst, Robert, Van der Niepen, Patricia, Van Tussenbroek, Frank, De Backer, Tine, Gevaert, Sofie, Hemelsoet, Dimitri, Defreyne, Luc, Heuten, Hilde, Yperzeele, Laetitia, Van der Zijden, Thijs, Lengelé, Jean-Philippe, Krzesinski, Jean-Marie, Verhamme, Peter, Vanassche, Thomas, Scoppettuolo, Pasquale, Wautrecht, Jean-Claude, Jelaković, Bojan, Dika, Zivka, Maria Bruno, Rosa, Taddei, Stefano, Romanini, Caterina, Petrucci, Ilaria, Rabbia, Franco, Di Monaco, Silvia, Paolo Rossi, Gian, Lerco, Silvia, Minuz, Pietro, Mansueto, Giancarlo, De Marchi, Sergio, Marcon, Denise, Kroon, Bram, Spiering, Wilko, van den Born, Bert-Jan, Poch, Esteban, Montagud-Marrahi, Enrique, Molina, Alicia, Guillen, Elena, Burrel, Marta, Wuerzner, Gregor, Mazzolai, Lucia, Buso, Giacomo, European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), [missing], MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, RS: Carim - V02 Hypertension and target organ damage, Interne Geneeskunde, MUMC+: MA Alg Interne Geneeskunde (9), European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), Clinical sciences, Clinical Pharmacology and Clinical Pharmacy, Nephrology, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, and UCL - (SLuc) Service de pathologie cardiovasculaire

Subjects
Pathology, medicine.medical_specialty, coronary artery, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], fibromuscular dysplasia, Fibromuscular dysplasia, 030204 cardiovascular system & hematology, Loeys–Dietz syndrome, Coronary artery disease, 03 medical and health sciences, 0302 clinical medicine, Severe Fibromuscular Dysplasia, Physiology (medical), medicine, Medicine and Health Sciences, Pharmacology (medical), genetics, Artery dissection, 030304 developmental biology, Medicine(all), 0303 health sciences, business.industry, medicine.disease, Loeys-Dietz syndrome, Nephrology, cardiovascular system, Human medicine, business, Cardiology and Cardiovascular Medicine, coronary artery disease, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract

Spontaneous coronary artery dissection (SCAD) is a prime cause of acute myocardial infarction in women < 50 years. Fibromuscular dysplasia (FMD) is present in 17% to 86% of patients with SCAD.1 In contrast, the prevalence of SCAD in FMD cohorts is

Published
2020

16. Headache, bilateral carotid stenosis, and hypoglossal palsy revealing granulomatosis with polyangiitis: An innovative application of vessel-wall mri

Author

Scoppettuolo, Pasquale, Ligot, Noemie, Remmelink, Myriam, Delpierre, Isabelle, Goldman, Serge, Naeije, Gilles, Vandergheynst, Frederic, Scoppettuolo, Pasquale, Ligot, Noemie, Remmelink, Myriam, Delpierre, Isabelle, Goldman, Serge, Naeije, Gilles, and Vandergheynst, Frederic

Abstract

SCOPUS: le.j, info:eu-repo/semantics/published

Published
2021

17. p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

Author

Scoppettuolo, Pasquale, Ligot, Noemie, Wermenbol, Vanessa, Van Bogaert, Patrick, Naeije, Gilles, Scoppettuolo, Pasquale, Ligot, Noemie, Wermenbol, Vanessa, Van Bogaert, Patrick, and Naeije, Gilles

Abstract

COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2020

21. Epileptic activity in neurological deterioration after ischemic stroke, a continuous EEG study

Author

Scoppettuolo, Pasquale, Gaspard, Nicolas, Depondt, Chantal, Legros, Benjamin, Ligot, Noemie, Naeije, Gilles, Scoppettuolo, Pasquale, Gaspard, Nicolas, Depondt, Chantal, Legros, Benjamin, Ligot, Noemie, and Naeije, Gilles

Abstract

Objective: Despite improvement in acute stroke care, almost 40% of patients with ischemic stroke present neurological deterioration. Neurological deterioration is associated with higher death and dependency rates. Neurological deterioration mechanisms are unknown, and half of neurological deterioration remains unexplained. We postulate that a substantial proportion of neurological deterioration in ischemic stroke is associated with periodic discharges/non-convulsive seizures that negatively impact the recovery of ischemic stroke and worsen symptoms. Methods: Retrospective review of 24 h continuous EEG monitoring (cEEG) performed for neurological deterioration in the stroke unit of a tertiary academic centre. Results: Eighty-one patients were included. cEEG detected epileptic activities in 44% of cases (Non-convulsive seizures/non-convulsive status epilepticus: 10/81 (12%), periodic discharges: 17/81 (21%) and sporadic epileptiform discharges in 14/81 (17%)). The proportion of patients who did not receive recanalization therapy was significantly higher in the NCSE/NCSz/PDs group than in the group devoid of NCSE/NCSz/PDs: 17/22 (77%) vs 13/59 (22%); p < 0,001. Treatment of Non-convulsive seizures /non-convulsive status epilepticus and periodic discharges was followed by EEG improvement in respectively 7/8 and 10/16 of treated patients. Conclusions: Non-convulsive seizures /non-convulsive status epilepticus /periodic discharges are associated to neurological deterioration after ischemic stroke. Significance: Treatment of Non-convulsive seizures /non-convulsive status epilepticus and periodic discharges, if such patterns are detected, could help prevent adverse metabolic consequences of epileptic activities on ischemic brain tissue., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

22. A NOVEL MUTATION OF COL4A1 RESPONSIBLE OF FAMILIAL PORENCEPHALY AND SEVERE HYPERMETROPIA

Author

Scoppettuolo, Pasquale

Abstract

A novel mutation of COL4A1 responsible of familial porencephaly and severe hypermetropiaAuteurs : Scoppettuolo P.1, Ligot N.1, Naeije G.1, Wermenbol V.2, Van Bogaert P.3Institution : 1Service de Neurologie u2013 Hu00f4pital Erasme u2013 ULB u2013 Bruxelles, Belgium 2Service de Neuropediatrie - Hu00f4pital Erasme u2013 ULB u2013 Bruxelles, Belgium3Service de Pu00e9diatrie u2013 CHU Angers, FranceINTRODUCTIONCOL4A1 is a gene responsible for a broad spectrum of syndromes characterized by small vessel involvement of variable severity, including neurological manifestations (porencephaly, aneurysms), ophthalmologic (retinal artery tortuosity and Axenfeld-Rieger anomaly), renal (renal cysts, microscopic hematuria) and systemic (cramps, Raynaud's phenomenon, arrhythmias). OBSERVATIONWe studied a non-consanguineous family (fig.1) with 3 cases of porecencephaly. IV-2 and IV-5 developed left and right hemiplegia respectively, had hypermetropia (8.50 and 15 dioptres (D)). IV-2 has epilepsy under valproic acid. IV-5 had mild psychomotor retardation and slight elevation of CK. IV-4 is hyperopic, microcephalic, with light mental retardation and the MRI shows a porencephalic cyst. The father has severe hypermetropia (7 D), bilateral cataract and nonspecific abnormalities of brain white matter. His mother suffers from lameness attributed to a forceps delivery: this has allowed suspecting an unknown hereditary pathology and a dominant inheritance. A genetic analysis reveals for father and three out five children a COL4A1 mutation of the type (c.2228G> T [p.Gly743Val]), not reported previously.DISCUSSIONWe discover a new autosomal dominant mutation of COL4A1. Glycine is chemically different, highly conserved and crucial for the formation of u03b11u03b11u03b12 heterotrimers of collagen IV. The systemic balance shows cerebral and ocular involvement.CONCLUSIONA mutation of the COL4A1 gene must be suspected in case of congenital porencephaly, early white matter abnormalities, ocular and renal abnormalities with familial history suggesting autosomal dominant inheritance with incomplete penetrance. For asymptomatic patients biannual monitoring of renal function, with cerebral and vessel imaging and ophthalmologic follow-up are indicated. Ru00e9fu00e9rences :1.tGould DB et al., Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308:1167u2013712.tGould DB, Phalan FC et al., Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med. 2006;354:1489u201396

Published
2017

24. Céphalées, sténose bilatérale des carotides et parésie du XII isolés révélant une granulomatose avec polyangéite

Author

Scoppettuolo, Pasquale, Ligot, Noemie, Vandergheynst, Frederic, Remmelink, Myriam, Goldman, Serge, Delpierre, Isabelle, Naeije, Gilles, Scoppettuolo, Pasquale, Ligot, Noemie, Vandergheynst, Frederic, Remmelink, Myriam, Goldman, Serge, Delpierre, Isabelle, and Naeije, Gilles

Abstract

INTRODUCTION La granulomatose avec polyang'eite (GPA/Wegener) est une vascularite n'ecrosante syst'emique des petits vaisseaux. L'atteinte neurologique centrale combine classiquement une m'eningite lymphocytaire et une atteinte multiple de nerfs cr^aniens. OBSERVATION Une patiente de 54 ans, sans ant'ec'edents m'edicaux notables, se pr'esente avec des c'ephal'ees d'apparition progressive depuis deux mois, centr'ees sur l'oreille gauche, irradiant dans toute l'h'emiface. Ces 'episodes r'ecidivants de c'ephal'ee avaient temporairement disparu gr^ace `a un traitement par cortico"ides prescrit pour hypoacousie aigu"e bilat'erale. La patiente a perdu 10 kilos en 8 mois dans un contexte d'odynophagie et asth'enie. L'examen neurologique est normal hormis une par'esie de l'h'emilangue gauche. Les examens biologiques r'ev`elent une hyperplaquettose et une vitesse de s'edimentation (VS) `a 92mm/H. Les ANCA sont titr'es `a 1/160, de sp'ecificit'e antig'enique anti-prot'einase 3. L'ARM d'emontre une st'enose de la portion pr'e-p'etreuse des deux art`eres carotides internes, associ'ee `a un processus infiltrant de l'espace carotidien et une pachym'eningite. Une l'esion nodulaire sous-pleurale apicale gauche et les espaces carotidiens sont hyperm'etaboliques en TEP-FEDG. L'art`ere temporale a un aspect histologique normal. La fibroscopie nasale retrouve des zones n'ecrotico-h'emorragiques au niveau du bourrelet tubaire gauche caract'eris'ees par la pr'esence de l'esions granulomateuses avec quelques cellules g'eantes (marquages CD68, CD34 positifs). Un diagnostic de GPA est pos'e. DISCUSSION Les c'ephal'ees unilat'erales et les st'enoses carotidiennes dans un contexte inflammatoire 'evoquent une maladie de Horton. Cependant, l'imagerie a mis en 'evidence non pas une atteinte vasculitique per se des carotides mais un infiltrat d'allure inflammatoire des espaces carotidiens et de l'apex pulmonaire finalement attribu'e `a une GPA sur base de la pr'esence de granulomes `a l'histopath, info:eu-repo/semantics/published

Published
2017

26. Characteristics and outcomes of cerebral venous thrombosis associated with COVID-19

Author

Scutelnic, Adrian, van de Munckhof, Anita, Miraclin, Angel T., Aaron, Sanjith, Hameed, Sajid, Wasay, Mohammad, Grosu, Oxana, Krzywicka, Katarzyna, Sánchez van Kammen, Mayte, Lindgren, Erik, Moreira, Tiago, Acampora, Roberto, Negro, Alberto, Karapanayiotides, Theodoros, Yaghi, Shadi, Revert, Anna, Cuadrado Godia, Elisa, Garcia-Madrona, Sebastian, La Spina, Paolino, Grillo, Francesco, Giammello, Fabrizio, Nguyen, Thanh N., Abdalkader, Mohamad, Buture, Alina, Sofia Cotelli, Maria, Raposo, Nicolas, Tsivgoulis, Georgios, Candelaresi, Paolo, Ciacciarelli, Antonio, Mbroh, Joshua, Batenkova, Tatiana, Scoppettuolo, Pasquale, Zedde, Marialuisa, Pascarella, Rosario, Antonenko, Kateryna, Kristoffersen, Espen S., Kremer Hovinga, Johanna A., Jood, Katarina, Aguiar de Sousa, Diana, Poli, Sven, Tatlisumak, Turgut, Putaala, Jukka, Coutinho, Jonathan M., Ferro, José M., Arnold, Marcel, and Heldner, Mirjam R.

Abstract

Introduction: Previous reports and meta-analyses derived from small case series reported a mortality rate of up to 40% in patients with coronavirus disease 2019 associated cerebral venous thrombosis (COVID-CVT). We assessed the clinical characteristics and outcomes in an international cohort of patients with COVID-CVT.Patients and methods: This was a registry study of consecutive COVID-CVT patients diagnosed between March 2020 and March 2023. Data collected by the International Cerebral Venous Thrombosis Consortium from patients with CVT diagnosed between 2017 and 2018 served as a comparison. Outcome analyses were adjusted for age and sex.Results: We included 70 patients with COVID-CVT from 23 hospitals in 15 countries and 206 controls from 14 hospitals in 13 countries. The proportion of women was smaller in the COVID-CVT group (50% vs 68%, p< 0.01). A higher proportion of COVID-CVT patients presented with altered mental state (44% vs 25%, p< 0.01), the median thrombus load was higher in COVID-CVT patients (3 [IQR 2–4] vs 2 [1–3], p< 0.01) and the length of hospital stay was longer compared to controls (11 days [IQR 7–20] vs 8 [4–15], p= 0.02). In-hospital mortality did not differ (5/67 [7%, 95% CI 3–16] vs 7/206 [3%, 2–7], aOR 2.6 [95% CI 0.7–9]), nor did the frequency of functional independence after 6 months (modified Rankin Scale 0–2; 45/58 [78%, 95% CI 65–86] vs 161/185 [87%, 81–91], aOR 0.5 [95% CI 0.2–1.02]).Conclusion: In contrast to previous studies, the in-hospital mortality rate and functional outcomes during follow-up did not differ between COVID-CVT patients and the pre-COVID-19 controls.

Published
2024
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27. Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene

Author

Saccà, Francesco, primary, Marsili, Angela, additional, Puorro, Giorgia, additional, Antenora, Antonella, additional, Pane, Chiara, additional, Tessa, Alessandra, additional, Scoppettuolo, Pasquale, additional, Nesti, Claudia, additional, Brescia Morra, Vincenzo, additional, De Michele, Giuseppe, additional, Santorelli, Filippo M., additional, and Filla, Alessandro, additional

Published
2012
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