Results 81 to 90 of about 1,125,924 (305)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

CURRENT APPROACH TO VITAMIN THERAPY IN CHILDREN OF THE EARLY CHILDHOOD PERIOD

Педиатрическая фармакология, 2007
Vitamins are substances of different chemical origin which both provide many biochemical processes within cells, tissues and organs and exert influence on physical and formative functions of the organism.
R.R. Shilyaev, T.R. Grishina, O.A. Gromova, S.A. Galitskaya, T.E. Satarina   +4 more
doaj   +2 more sources

A randomized clinical trial comparing family-focused treatment and individual supportive therapy for depression in childhood and early adolescence [PDF]

, 2017
OBJECTIVE: Despite the morbidity and negative outcomes associated with early-onset depression, few studies have examined the efficacy of psychosocial treatment for depressive disorders during childhood.
Asarnow, Joan R., Langer, David A., Sugar, Catherine A., Tompson, Martha C.   +3 more
core   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

The Role of Early Childhood Education Teachers in Preparing Early Childhood Learning Readiness in the Transition Period

Jurnal Pendidikan Anak Usia Dini Undiksha
The transition from Early Childhood Education (ECE) to primary school is a critical stage in the development of young children. The role of ECE teachers in preparing children's readiness for learning during this transition period is key to ensuring a successful adaptation to a new environment and more complex academic demands.
Siti Hanifah, null Euis Kurniati, null Rudiyanto   +2 more
openaire   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Opinions of Parents with Children in Early Childhood Period Regarding Playgrounds

Turkish Studies-Educational Sciences, 2023
Bu araştırma erken çocukluk döneminde çocuğu olan ebeveynlerin çocuk parklarına ilişkin görüşlerini incelemek amacıyla yapılmıştır. Araştırma nitel araştırma yöntemlerinden biri olan olgu bilim çalışması ile desenlenmiştir. Çalışma grubu için kolay ulaşılabilir durum örnekleme yöntemi kullanılmıştır. Etik kurulu onayı alındıktan
openaire   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

The long-term legacy of the Khmer Rouge period in Cambodia [PDF]

The author studies the long-term impact of genocide during the period of the Khmer Rouge (1975-79) in Cambodia and contributes to the literature on the economic analysis of conflict.
de Walque, Damien
core