9 research outputs found
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in survival motor neuron (SMN) 1 gene, resulting in a truncated SMN protein responsible for degeneration of brain stem and spinal motor neurons. The paralogous SMN2 gene partially compensates full-length SMN protein production, mitigating the phenotype. Antisense oligonucleotide nusinersen (Spinraza®) enhances SMN2 gene expression. SMN is involved in RNA metabolism and biogenesis of microRNA (miRNA), key gene expression modulators, whose dysregulation contributes to neuromuscular diseases. They are stable in body fluids and may reflect distinct pathophysiological states, thus acting as promising biomarkers. Muscle-specific miRNAs (myomiRs) as biomarkers for clinical use in SMA have not been investigated yet. Here, we analyzed the expression of miR-133a, -133b, -206 and -1, in serum of 21 infantile SMA patients at baseline and after 6 months of nusinersen treatment, and correlated molecular data with response to therapy evaluated by the Hammersmith Functional Motor Scale Expanded (HFMSE). Our results demonstrate that myomiR serological levels decrease over disease course upon nusinersen treatment. Notably, miR-133a reduction predicted patients’ response to therapy. Our findings identify myomiRs as potential biomarkers to monitor disease progression and therapeutic response in SMA patients
Italian Intersociety Recommendations (SIAARTI, SIMEU, SIS 118, AISD, SIARED, SICUT, IRC) on Pain Management in the Emergency Setting.
Pain is the primary reason for admission to the Emergency Department (ED). However, the management of pain in this setting is often inadequate because of opiophagia, fear of excessive sedation, and fear of compromising an adequate clinical assessment.
METHODS:
An intersociety consensus conference was held in 2010 on the assessment and treatment of pain in the emergency setting. This report is the Italian Intersociety recommendations on pain management in the emergency department setting.
RESULTS:
The list of level A recommendations includes: a) use of IV Acetaminophen for opioid sparing properties and reduction of opioid related adverse events; b) ketaminemidazolam combination preferred over fentanylmidazolam or fentanylpropofol in pediatric patients; c) boluses of ketamine IV (particularly in the population under the age of 2 years and over the age of 13) can lead to impairment of the upper airways, including the onset of laryngospasm, requiring specific expertise and skills for admi
Italian Intersociety Recommendations on pain management in the emergency setting (SIAARTI, SIMEU, SIS 118, AISD, SIARED, SICUT, IRC).
Quality in emergency departments: a study on 3,285,440 admissions
INTRODUCTION: A multi-centre study has been conducted, during 2005, by means of a questionnaire posted on the Italian Society of Emergency Medicine (SIMEU) web page. Our intention was to carry out an organisational and functional analysis of Italian Emergency Departments (ED) in order to pick out some macro-indicators of the activities performed. Participation was good, in that 69 ED (3,285,440 admissions to emergency services) responded to the questionnaire. METHODS: The study was based on 18 questions: 3 regarding the personnel of the ED, 2 regarding organisational and functional aspects, 5 on the activity of the ED, 7 on triage and 1 on the assessment of the quality perceived by the users of the ED. RESULTS AND CONCLUSION: The replies revealed that 91.30% of the ED were equipped with data-processing software, which, in 96.83% of cases, tracked the entire itinerary of the patient. About 48,000 patients/year used the ED: 76.72% were discharged and 18.31% were hospitalised. Observation Units were active in 81.16% of the ED examined. Triage programmes were in place in 92.75% of ED: in 75.81% of these, triage was performed throughout the entire itinerary of the patient; in 16.13% it was performed only symptom-based, and in 8.06% only on-call. Of the patients arriving at the ED, 24.19% were assigned a non-urgent triage code, 60.01% a urgent code, 14.30% a emergent code and 1.49% a life-threatening code. Waiting times were: 52.39 min for non-urgent patients, 40.26 min for urgent, 12.08 for emergent, and 1.19 for life-threatening patients
Quality in Emergency Department: a study on 3,285,440 admissions
Introduction. A multi-centre study has been conducted, during
2005, by means of a questionnaire posted on the Italian Society
of Emergency Medicine (SIMEU) web page. Our intention was
to carry out an organisational and functional analysis of Italian
Emergency Departments (ED) in order to pick out some macroindicators
of the activities performed. Participation was good,
in that 69 ED (3,285,440 admissions to emergency services)
responded to the questionnaire.
Methods. The study was based on 18 questions: 3 regarding the
personnel of the ED, 2 regarding organisational and functional
aspects, 5 on the activity of the ED, 7 on triage and 1 on the
assessment of the quality perceived by the users of the ED.
Results and conclusion. The replies revealed that 91.30% of
the ED were equipped with data-processing software, which, in
96.83% of cases, tracked the entire itinerary of the patient. About
48,000 patients/year used the ED: 76.72% were discharged and
18.31% were hospitalised. Observation Units were active in
81.16% of the ED examined.
Triage programmes were in place in 92.75% of ED: in 75.81%
of these, triage was performed throughout the entire itinerary
of the patient; in 16.13% it was performed only symptombased,
and in 8.06% only on-call. Of the patients arriving
at the ED, 24.19% were assigned a non-urgent triage code,
60.01% a urgent code, 14.30% a emergent code and 1.49% a
life-threatening code.
Waiting times were: 52.39 min for non-urgent patients, 40.26
min for urgent, 12.08 for emergent, and 1.19 for life-threatening
patients