Results 171 to 180 of about 1,028,023 (313)

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
wiley   +1 more source

Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H. Niks, Volker Straub, Laurent Servais, Jean‐Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, Francesco Muntoni, on behalf of the iMDEX Network, Joana Domingos, Victoria Selby, Amy Wolfe, Lianne Abbott, Efthymia Panagiotopoulou, Mario Iodice, Maria Ash, Imelda de Groot, Merel Jansen, Maaike Pelsma, Marian Bobbert, Menno Van Der Holst, Yvonne D. Krom, Marjolein J. van Heur‐Neuman, Thomas Voit, Valérie Decostre, Stéphanie Gilabert, Michela Guglieri, Alexander Murphy, Anna Mayhew, Mariacristina Scoto, Anna Sarkozy, Pinki Munot, Stephanie Robb, Elaine Chan, V Robinson, W Girshab, V Crook, E Milev, L Abbott, A Wolfe, E O’Reilly, J Watts‐When, N Burnett, R Thomas, R Terespolsky, O Martinaeu, J Longatto, C Bettolo, M Guglieri, J Diaz‐Manera, G Tasca, M Elseed, R Muni‐Lofra, M James, D Moat, J Sodhi, K Wong, E Robinson, E Groves, R Rabb, H McMurchie, H Chase, Tracey Willis, C Rylance, N Birchall, E Wright, A Childs, K Pysden, C Martos, D Roberts, L. Pallant, S Walker, A Henderson, R Madhu, R Karuvattil, Y Balla, S Gregson, S Clark, E Wraige, H Jungbluth, V Gowda, M Vanegas, J. Sheehan, A Schofield, C Smith, I Hughes, E Whitehouse, S Warner, E Reading, N Emery, J Moustoukas, K Strachan, M Ong, M Atherton, N Mills, S Sanchez Marco, A Saxena, K Skone, J TeWaterNaude, H Davis, C Wood, A Majumdar, A Murugan, I Guarino, R Tomlinson, H Jarvis, L Wills, C Frimpong, J Watson, G Cobb, G Robertson, P Brink, J Burslem, C Adams, J Wong, S Joseph, I Horrocks, J Dunne, M DiMarco, S Brown, S McKenzie, K Torne, R Mohamed, V Velmurugan, M Prasad, S Sedehizadeh, A Schugal, R Keetley, S Williamson, K Payne, E Dowling, P Fenty, C de Goede, A Parkes, K Baxter, M Illingworth, N Bhangu, S Geary, J Palmer, K Shill, S Tirupathi, A Shah, D O’Donogue, J McVeigh, J McFetridge, G Nicfhirleinn, H Beattie, T Leyland, K Stevenson, N Hussain, D Baskaran, Z Lambat, R Sullivan, L Locke, G Ambegaonkar, D Krishnakumar, J Taylor, J Moores, E Stephen, J Tewnion, S Ramdas, M Sa, A Skippen, M Khries, C Lilien, H Ramjattan, F Taylor, H English, K Stewart, F Flint, E Bartram, R Noble   +176 more
wiley   +1 more source

Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16312 Abstract Aim To characterize autism and co‐occurring tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.
Rebecca A. Mitchell, Francesca Lami, Sarah M. Barton, A. Simon Harvey, Katrina Williams   +4 more
wiley   +1 more source

Evaluation of School-Age Children's Intelligence Quotient and Their Chronic Exposure to Trace Elements in Ambient Air. [PDF]

Cureus, 2023
Adly HM, Saati AA, Khafagy AA, Alandiyjany MN, Saleh SAK.   +4 more
europepmc   +1 more source

Bridging the gap in obesity research: A consensus statement from the European Society for Clinical Investigation

European Journal of Clinical Investigation, EarlyView.
This consensus highlights critical research gaps in obesity epidemiology, phenotypic heterogeneity and clinical management, calling for advanced methodologies, collaborative strategies and innovative policies to mitigate the global obesity epidemic and its socio‐economic impacts.
Federico Carbone, Jean‐Pierre Després, John P. A. Ioannidis, Ian J. Neeland, Gabriella Garruti, Luca Busetto, Luca Liberale, Stefano Ministrini, Gemma Vilahur, Thomas H. Schindler, Maria Paula Macedo, Agostino Di Ciaula, Marcin Krawczyk, Andreas Geier, Gyorgy Baffy, Maria Felicia Faienza, Ilaria Farella, Nicola Santoro, Gema Frühbeck, Patricia Yárnoz‐Esquiroz, Javier Gómez‐Ambrosi, Emma Chávez‐Manzanera, Verónica Vázquez‐Velázquez, Jean‐Michel Oppert, Dimitrios N. Kiortsis, Paolo Sbraccia, Carmine Zoccali, Piero Portincasa, Fabrizio Montecucco   +28 more
wiley   +1 more source

A new perspective on drug‐resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome

Epilepsia, Volume 66, Issue 3, Page 632-647, March 2025.
Abstract Objective We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes. Methods We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow‐up.
Barbora Splitkova, Katerina Mackova, Miroslav Koblizek, Zuzana Holubova, Martin Kyncl, Katerina Bukacova, Alice Maulisova, Barbora Straka, Martin Kudr, Matyas Ebel, Alena Jahodova, Anezka Belohlavkova, Gonzalo Alonso Ramos Rivera, Martin Hermanovsky, Petr Liby, Michal Tichy, Josef Zamecnik, Radek Janca, Pavel Krsek   +18 more
wiley   +1 more source

Developmental and Intelligence Quotient in Autism: A Brief Report on the Possible Long-Term Relation. [PDF]

Behav Sci (Basel), 2022
Riccioni A, Siracusano M, Arturi L, Marcovecchio C, Postorino V, Gialloreti LE, Mazzone L.   +6 more
europepmc   +1 more source

Long‐term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases

Epilepsia, EarlyView.
Abstract Objective We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming to provide information on the prognosis of r20 regarding seizures, cognitive function, comorbidities, and social living. Methods Patients diagnosed with r20 in our hospital were identified, and clinical data were extracted from medical
Kentaro Tokumoto, Takuji Nishida, Hitoshi Ikeda, Hiroko Ikeda, Norihiko Kawaguchi, Satoshi Mizutani, Tokito Yamaguchi, Hideyuki Ohtani, Etsuko Yamazaki, Naotaka Usui, Katsumi Imai, Yushi Inoue   +11 more
wiley   +1 more source

Relationship between growth and intelligence quotient in children with Down syndrome. [PDF]

Transl Pediatr, 2022
Kłosowska A, Kuchta A, Ćwiklińska A, Sałaga-Zaleska K, Jankowski M, Kłosowski P, Mański A, Zwiefka M, Anikiej-Wiczenbach P, Wierzba J.   +9 more
europepmc   +1 more source

Developmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas

Epilepsia, EarlyView.
Abstract Objective What factors influence cognition and behavior in patients with epilepsy caused by hypothalamic hamartoma (HH)? Methods We conducted a retrospective study of 103 patients referred to the Epilepsy Center in Freiburg, Germany, over the past 24 years.
Kathrin Wagner, Theo Demerath, Sarah Metzger, Friederike Niedermoser, Birgitta Metternich, Lisa Putzar, Horst Urbach, Victoria San Antonio‐Arce, Kerstin Alexandra Klotz, Andreas Schulze‐Bonhage   +9 more
wiley   +1 more source