Results 111 to 120 of about 12,352,394 (240)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

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

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

Frequency and Phenotype of Coexisting Aquaporin‐4 and Autoimmune Encephalitis Autoantibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Among 9457 aquaporin‐4 (AQP4) immunoglobulin G‐positive patients, 2071 underwent autoimmune encephalitis antibody testing and 85 (4%) had coexisting antibodies, most commonly cerebrospinal fluid glial fibrillary acidic protein‐IgG and N‐methyl‐D‐aspartate receptor‐IgG, or serum high‐titer GAD65‐IgG.
Laura Cacciaguerra, Binxia Yang, Vanda A. Lennon, Shruti P. Agnihotri, Nusrat Ahsan, Karen S. Fernandez, Erin McLeod, Georgios Mangioris, William R. Meador, Wendy G. Mitchell, Jacqueline A. Nicholas, Amy M. L. Quek, Thomas Shoemaker, Kurt Sieloff, Matt C. Edmond, Rebekah A. Laggis, Kristin L. Flynn, Jessica A. Sagen, Emmanuelle Waubant, John J. Chen, Sarosh R. Irani, Andrew McKeon, Anastasia Zekeridou, Eoin P. Flanagan, Sean J. Pittock, Amy Kunchok   +25 more
wiley   +1 more source

Scoliosis in School-children [PDF]

BMJ, 1948
openaire   +2 more sources

Perspectives of looked after children on school experience – a study conducted among primary school children in a children’s home in Singapore [PDF]

, 2006
The study was conducted on the ground that the education of looked after children (specifically children in a Children's Home) is significant for their development, future success and social integration.
Yee, Soo Chuen Celeste, Celeste, Yee Soo Chuen   +1 more
core  

Dysregulated Cholesterol Metabolism, Chronic Inflammation, and Disability in Severe Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Dysregulated lipid metabolism, which can affect remyelination and neural repair, has not been extensively investigated in progressive multiple sclerosis (PMS). The goal was to examine whether dysregulated cholesterol metabolism was associated with disability in PMS. Methods The study sample comprised 53 Severe PMS patients (Expanded
Taylor R. Wicks, Mujeeb Shittu, Anna Wolska, Diala Ghazal, Bianca Weinstock‐Guttman, Alexander Burnham, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +8 more
wiley   +1 more source

The Use of E-Portfolios in Working with Pre-School Children

Journal of Digital Pedagogy
The advancement of information technologies has contributed to shaping a different vision of the life of society as a whole. In the age of digitalisation, society faces various changes in communication, as well as in everyday life.
Iva Manić
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

FEATURES OF PHYSICAL DEVELOPMENT OF THE PRIMARY SCHOOLCHILDREN WHO ARE STUDYING IN SCHOOLS OF DIFFERENT TYPES

Acta Biomedica Scientifica, 2013
Risk factors during the school period are continuous, systematic and long. Even the most minimum influences have their ability to be accumulate and are accompanied by violations of somatic, mental, physical and reproductive health.
E. A. Tkachuk, N. N. Martynovich
doaj