Results 171 to 180 of about 78,021 (259)

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Proposed differential diagnosis and classification of non-syndromic and syndromic supernumerary teeth. [PDF]

BMC Oral Health
Zhang C, Xue N, Xie Y, Zhang X, Zeng X, Liu T.   +5 more
europepmc   +1 more source

Non-syndromic pontocerebellar hypoplasia [PDF]

, 2020
openaire   +1 more source

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation-Associated Non-Syndromic Hearing Loss in Morocco. [PDF]

OTO Open
Salman EM, Qabli ME, Soufian L, Mansouri M, Bouzid FZ, Oulghoul O, Chehbouni M, Lakhdar Y, Rochdi Y, Raji A, Aboussair N.   +10 more
europepmc   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

Expanding Role of Nephron-Sparing Surgery in Non-syndromic Unilateral Unifocal Wilm's Tumor-Our Experience and Review of Literature. [PDF]

J Kidney Cancer VHL
Pethe SK, Sekhon V, Pal AK, Ahlawat R.
europepmc   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Bilateral, non-syndromic second branchial cleft fistula in an 8-year-old child: a case report. [PDF]

J Med Case Rep
El Mourabit F, Benghaleb H, Lahjaouj M, Loudghiri M, Bijou W, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M.   +9 more
europepmc   +1 more source