Results 31 to 40 of about 2,165 (162)
Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy
Canavan disease is a leukodystrophy caused by ASPA mutations that diminish oligodendroglial aspartoacylase activity, and is characterized by markedly elevated brain concentrations of the aspartoacylase substrate N‐acetyl‐l‐aspartate (NAA) and by ...
Vanessa L. Hull +8 more
doaj +1 more source
The minimum cost of the 10 years on identified nutrition‐specific and nutrition‐sensitive interventions of the National Food and Nutrition Strategy in Ethiopia is estimated to be US$ 2.55bn with an average annual cost of $250 million over 10 years (2021–2030), which is only 2.3% of the Ethiopian Annual GDP 111.27 billion US dollars in 2021 (World bank).
Yetayesh Maru +9 more
wiley +1 more source
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination
Canavan disease (CD) is a neurodegenerative disease, caused by a deficiency in the enzyme aspartoacylase (ASPA). This enzyme has been localized to oligodendrocytes; however, it is still undefined how ASPA deficiency affects oligodendrocyte development ...
Natalia S. Mattan +6 more
doaj +1 more source
Recently, adeno-associated virus (AAV)-mediated gene therapies have attracted clinical interest for treating neurodegenerative diseases including spinal muscular atrophy (SMA), Canavan disease (CD), Parkinson’s disease (PD), and Friedreich’s ...
Barbara A. Perez +4 more
doaj +1 more source
Incidental pathologies on magnetic resonanceimaging in delayed milestones pediatric patients.
Background:Delayed in achieving milestones is a rare but still devastating effect with a vast amount of etiologies resides in it. At least 89% of patients with development delay showed additional clinical features.
Ghazala Shahzad +5 more
doaj +1 more source
Abstract Children with inflammatory bowel diseases (IBD) have limited access to the available advanced therapies, given the lengthy gap between adult and pediatric approval. We aimed to review key hurdles for pediatric trials and recommend practical solutions.
Dan Turner +21 more
wiley +1 more source
Positive deviants are individuals or groups who demonstrate unexpectedly positive outcomes in contexts where negative outcomes are the norm. In this study, positive deviants exhibited health‐promoting behaviors related to NCD risk factors. The use of these strategies led to positive health outcomes, which merit further exploration and integration into ...
Oumnia Bouaddi +9 more
wiley +1 more source
Mycoplasma pneumoniae‐Induced Rash and Mucositis: Clinicopathologic Characterization of 11 Cases
ABSTRACT Background Mycoplasma pneumoniae ‐induced rash and mucositis (MIRM) is a mucocutaneous eruption affecting children and young adults with respiratory tract or clinically occult infection by M. pneumoniae . Mucosal involvement is often robust and may raise concern for Stevens–Johnson syndrome/toxic epidermal necrolysis (SJS/TEN). Histopathologic
Margaret Lang Houser +5 more
wiley +1 more source
Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD.
Sankar Surendran +3 more
doaj +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source

