Weill–Marchesani syndrome: A rare cause of ectopia lentis and short stature

Autor: Sapna Sandal, Varshini Shanker, Swasti Pal, Sunita Bijarnia-Mahay

Publikováno v: Indian Pediatrics Case Reports, Vol 1, Iss 2, Pp 117-119 (2021)

Background: Weill–Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ocular manifestations of microspherophakia, myopia, ectopia lentis, and glaucoma. It is

Externí odkaz: https://doaj.org/article/670de0379ae049b38bb9b163486c23fa

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Autor: Nihr BioResource, F. Lucy Raymond, Shekeeb S. Mohammad, TD Graves, Susan J. Hayflick, Bert B.A. de Vries, Katy Barwick, Conor Fearon, Dora Steel, Mark Hallett, Asif Doja, Emilie Chan Seng, Camilo Toro, Fiona Stewart, Diane Demailly, Suh Young Jeong, Claudio M. de Gusmao, Frédérique Pavillard, Nutan Sharma, Fabienne Cyprien, Juan C Pallais, Brent L. Fogel, David R. FitzPatrick, Lucia Abela, Russell C. Dale, Bettina Balint, Natalie Trump, Michel Tchan, Sony Malhotra, Swasti Pal, Maya Topf, Manju A. Kurian, Michelle Sahagian, Julia Rankin, Laila Selim, Jeff L. Waugh, Sidney Krystal, Gustavo Polo, Caleb Rogers, Michel Mondain, Kailash P. Bhatia, Ishwar C. Verma, Marisela Dy-Hollins, Kelly A. Mills, Derek Wong, Laura Cif, William A. Gahl, Meredith W Allain, Sanaz Attaripour Isfahani, Agathe Roubertie, Jenny L. Wilson, Allison Gregory, Victoria Gonzalez, Carolyn D. Applegate, Nathalie Dorison, Jennifer A. Bassetti, Catherine Blanchet, Ada Hamosh, Deciphering Developmental Disorders Study, Hane Lee, Julien Baleine, Emma L. Baple, Gaetan Lesca, Anna Znaczko, Thomas Roujeau, Mario Sa, Laurence Lion François, Neil Mahant, Diane Doummar, Sandra Jansen, Marie Hully, Christine Coubes, Eva B. Forman, Victor S.C. Fung, Gaëtan Poulen, Raghda Zaitoun, Serena Galosi, Timothy Lynch, Xavier Vasques, Elise Schaefer, Richard Selway, Adeline Ngoh, Tuula Rinne, Philippe Coubes, Elizabeth L. Fieg, Rachel Fox, Jennifer Friedman, Andrea K. Petersen, Hugo Morales-Briceño, Rebecca Signer, Luis Rohena, Sandra Chantot Bastaraud, Chloé Laurencin, Kishore R. Kumar, Julian A. Martinez-Agosto, Ellyn Farrelly, Kathleen M. Gorman, Esther Meyer, Joel B. Krier, Ariane Soldatos, Lydie Burglen, Jean-Pierre Lin, Pierre-François Perrigault, Dolly Zhen, Harutomo Hasegawa, Mary D. King, Alba Sanchis-Juan, David A. Stevenson, Gilles Cambonie, Wui K. Chong, Christophe Milési, Vincent d'Hardemare, John R. Østergaard

Publikováno v: Cif, L, Demailly, D, Lin, J P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Genomics England Research Consortium, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, S J, Hamosh, A, Hully, M, Jansen, S, Jeong, S Y, Krier, J B, Krystal, S, Kumar, K R, Laurencin, C, Lee, H, Lesca, G, François, L L, Lynch, T, Mahant, N, Martinez-Agosto, J A, Milesi, C, Mills, K A, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, J R & Undiagnosed Diseases Network 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454b73289249592eb28ef6cf30506835
https://doi.org/10.1093/brain/awaa304

Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic

Autor: Sunita Bijarnia-Mahay, Ishwar C. Verma, Ratna Dua Puri, Swasti Pal, Sameer Bhatia

Publikováno v: Indian Pediatrics

To examine the impact of the COVID-19 pandemic, we interviewed 26 patients with lysosomal storage disorders receiving enzyme replacement therapy. 20 (77 %) had significant interruption in their treatment, with an average of 8 (range 2-28) missed dose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::399250598dedb55469ad48278f816e39
https://doi.org/10.1007/s13312-021-2202-x

Outcome of Prenatally-Detected Fetal Ventriculomegaly

Autor: Ratna Dua Puri, Surbhi Mahajan, Nandita Dimri, Udhaya Kotecha, Ishwar C. Verma, Pratima Dash, Meena Lall, Ashok Baijal, Pushpa Saviour, Preeti Paliwal, Nidhish Sharma, Sunita Bijarnia-Mahay, Swasti Pal

Publikováno v: Journal of Fetal Medicine. :39-44

Fetal ventriculomegaly (FVM) is a commonly- detected anomaly in the second and third trimester ultrasound scanning. Counseling in this situation is difficult, especially when the chromosomal abnormalities have been excluded. An outcome data would be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::055521fa5c60f55bc20e5178bd39ffe2
https://doi.org/10.1007/s40556-015-0044-0