0000000000674240
AUTHOR
L Greco
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.
Pancreatic enzyme therapy in childhood celiac disease. A double-blind prospective randomized study.
The validity of pancreatic enzyme substitution therapy in the two months following diagnosis of celiac disease was investigated. Twenty patients (8 males, 12 females), mean age 14.2 months (group A) received an enzyme substitution preparation. The control group (group B) included 20 patients (9 males, 11 females), mean age 14.5 months, treated with placebo. Before starting treatment, we performed a stratification for age, weight-for-age at diagnosis, and degree of pancreatic insufficiency. The therapies were then administered randomly in double-blind fashion. On diagnosis and 30 and 60 days after commencement of a gluten-free diet with identical calorie intake in both groups, a series of an…
Understanding Factors Associated With Psychomotor Subtypes of Delirium in Older Inpatients With Dementia
Objectives Few studies have analyzed factors associated with delirium subtypes. In this study, we investigate factors associated with subtypes of delirium only in patients with dementia to provide insights on the possible prevention and treatments. Design This is a cross-sectional study nested in the "Delirium Day" study, a nationwide Italian point-prevalence study. Setting and participants Older patients admitted to 205 acute and 92 rehabilitation hospital wards. Measures Delirium was evaluated with the 4-AT and the motor subtypes with the Delirium Motor Subtype Scale. Dementia was defined by the presence of a documented diagnosis in the medical records and/or prescription of acetylcholine…
Development of a low-cost seismic station based on MEMS technology
L’impatto di un forte terremoto su una comunità urbana può essere ridotto con una azione tempestiva e ben pianificata da parte degli organi di Protezione Civile preposti. In tale prospettiva è di fondamentale importanza che gli organi preposti alla sorveglianza sismica del territorio nazionale si dotino di strumenti di osservazione puntuale in grado di fornire nell’immediato terremoto informazioni utilissime per la gestione ottimale delle emergenze. Ciò può essere fatto oggi mediante la realizzazione reti sismiche urbane, con funzionamento in tempo reale (OSU Osservatori Sismici Urbani), in grado di fornire in maniera tempestiva ai centri per la gestione delle emergenze, la distribuzione de…