Results 31 to 40 of about 964,594 (174)

Karl Grassmann's 1896 paper “critical overview of contemporary theories of the heredity of the psychoses”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 192, Issue 3-4, Page 41-52, April-June 2023., 2023
Abstract Four years before the rediscovery of Mendel's work in 1900, Karl Grassmann published a detailed, scholarly review of the heredity of psychosis which we here review. A full translation is in the appendix. We emphasize seven major conclusions from this review.
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency

Epilepsia Open, Volume 7, Issue 4, Page 810-816, December 2022., 2022
Abstract We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD), who presented with an early‐onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia and drug‐resistant epilepsy with neurodevelopmental delay.
Ilaria Cani, Federica Pondrelli, Laura Licchetta, Raffaella Minardi, Tania Giangregorio, Barbara Mostacci, Lorenzo Muccioli, Lidia Di Vito, Anna Fetta, Carmen Barba, Carlo Alberto Castioni, Andrea Bordugo, Paolo Tinuper, Francesca Bisulli   +13 more
wiley   +1 more source

An unusual case of Dyke–Davidoff–Masson syndrome revealed by status epilepticus in a Malian patient

Clinical Case Reports, Volume 10, Issue 10, October 2022., 2022
Abstract The Duke–Davidoff–Masson syndrome (DDMS) is a rare neurological condition with unknown prevalence, globally. To date, <100 cases have been reported worldwide. We report the case of an 18‐year‐old patient admitted for status epilepticus seizure, and who presented a right hemiparesis, body asymmetry, joints ankylosis, and mental retardation ...
Samba O. Djimdé, Abdoulaye Yalcouyé, Abdou Koïta, Hassana Samir, Pofinet Kebkiba, Chrystelle Awovi Gueli, Alassane B. Maïga, Adama S. Sissoko, Guida Landouré   +8 more
wiley   +1 more source

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, Volume 63, Issue 6, Page 1443-1474, June 2022., 2022
Abstract The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021).
Kate Riney, Alicia Bogacz, Ernest Somerville, Edouard Hirsch, Rima Nabbout, Ingrid E. Scheffer, Sameer M. Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stéphane Auvin, Leonor Cabral‐Lim, Ansuya Naidoo, Emilio Perucca, Solomon L. Moshé, Elaine C. Wirrell, Paolo Tinuper   +19 more
wiley   +1 more source

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology, Volume 9, Issue 2, Page 193-205, February 2022., 2022
Abstract Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.
Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava   +38 more
wiley   +1 more source

Parry-Romberg Syndrome: A Case of Late Onset with Rapid Progression [PDF]

Journal of Clinical and Diagnostic Research, 2014
Parry–Romberg syndrome (PRS) or progressive hemifacial atrophy is rare, poorly understood condition with an unclear aetiology and characterized by slow and progressive atrophy affecting one side of the face.
Senthil Kumar, Dinesh Kumar, Ramesh Kumar, Rajkumar, Ramachandra Prabhakar   +4 more
doaj   +1 more source

Idiopathic hemifacial atrophy successfully treated with hyaluronic acid filler: About two new cases

, 2023
Journal of Cosmetic Dermatology, Volume 22, Issue 3, Page 1142-1145, March 2023.
Kouki Chaima, Mseddi Madiha, Turki Hamida   +2 more
wiley   +1 more source

Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia [PDF]

Korean Journal of Pediatrics, 2015
Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration.
Yun-Jin Lee, Kee-Yang Chung, Hoon-Chul Kang, Heung Dong Kim, Joon Soo Lee   +4 more
doaj   +1 more source

Parry-romberg syndrome: about a case

The Pan African Medical Journal, 2017
A six-year-old girl presented with skin lesions on the left cheek at 5 years of age. On examination diffuse sclerosis on the left cheek was noted, hypoplasia of left half of the face and deviation of mouth and lips to left side were noted. Investigations
Hanane Oummad, Lalla Ouafae Cherkaoui
doaj   +1 more source

Progressive facial and cerebral hemiatrophy

Cleveland Clinic Journal of Medicine, 1984
A 43-year-old woman with progressive facial hemiatrophy had contralateral hemianopia and sensory loss. A computed-tomographic brain scan showed ipsilateral cerebral atrophy. The neurological and neuroradiological features of progressive facial hemiatrophy are reviewed.
openaire   +2 more sources