Search results for "disease"

Activation of α-secretase as an approach for treatment of Alzheimer’s disease

2006

WDR45 Gene and Its Role in Pediatric Epilepsies

2021

AbstractWD repeat domain 45 (WDR45) gene has been increasingly found in patients with developmental delay (DD) and epilepsy. Previously, WDR45 de novo mutations were reported in sporadic adult and pediatric patients presenting iron accumulation, while heterozygous mutations were associated with β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation disorders, characterized by extrapyramidal movement disorders and abnormal accumulation of iron in the basal ganglia. Overall, people harboring WDR45 mutations have moderate to severe DD and different types of seizures. The phenotype of adult patients is characterized by extrapyramidal…

Characterization and antimicrobial activity of the volatile components of the flowers of Magydaris tomentosa (Desf.) DC. collected in Sicily and Alge…

2014

The essential oils of the flowers of Magydaris tomentosa (Desf.) DC. (Apiaceae) collected in Sicily (MSi) and Algeria (MAl), respectively, were obtained by hydrodistillation, and their compositions were analysed. The analyses allowed the identification and quantification of 23 components in MSi and 60 compounds in MAl, respectively, showing a very different profile in the composition of the two populations. The main components of MSi were cembrene (28.2%), α-springene (17.5%) and β-springene (14.8%), also present in MAl but in lesser amount (0.4%, 1.8% and 0.9%, respectively), whereas the principal constituents of MAl were (E)-nerolidol (35.4%), α-costol (13.3%) and β-costol (6.8%). Both MS…

Monotherapy with indacaterol once daily reduces the rate of exacerbations in patients with moderate-to-severe COPD: Post-hoc pooled analysis of 6 mon…

2014

Summary Background In patients with COPD, exacerbations are associated with poor quality of life and may shorten survival. Prevention of exacerbations is, therefore, a key objective in COPD management. Indacaterol, a once-daily ultra-long-acting β 2 -agonist, has been shown to reduce exacerbations in various studies. This pooled analysis evaluated the effect of indacaterol on exacerbations versus placebo. Methods Six-month data were pooled from three randomized, double-blind, and placebo-controlled studies: indacaterol 300 μg versus placebo (1 year); indacaterol 150 μg and 300 μg versus placebo (6 months); and indacaterol 150 μg versus placebo (6 months). All treatments were administered on…

The Commented Walk Method as a Way of Highlighting Precise Daily Mobility Difficulties – A Case Study Focusing on Cognitive or Mental Diseases

2016

Abstract The French Act of 11 February 2005 on equal rights and opportunities, participation and citizenship of people with disabilities highlights the need “for people with disabilities or reduced mobility” to have access to the complete mobility chain of the transport system. This law was initially planned to apply from 2015. Many efforts have been made to improve life for those with physical, visual and, to a lesser extent, hearing impairments. But there is a lot of room for improvement in situations regarding psychological, cognitive and mental impairment. This is largely due to a lack of knowledge on the difficulties experienced by the above when they travel. The national quantitative …