SMA II

Cerebral Palsy

The subjects will be treated with paracetamol in therapeutic doses, 15mg/kg/dose every six hour, with a maximum dosage of 1 g x 4 per day, for three consecutive days.

Paracetamol 120Mg/5mL Oral Suspension

Copenhagen Neuromuscular Center

Paracetamol Study in Patients With Low Muscle Mass

Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy

- Clearance (total, glucuronidation, sulphation, CYP2E1 oxidation and unchanged) of paracetamol in patients with SMA, CP and ICU-admitted patients with either SMA or CP

- Clearance (total paracetamol) of paracetamol in patients with SMA, CP and ICU-admitted patients with either SMA or CP

- Clearance (glucuronidation) of paracetamol in patients with SMA, CP and ICU-admitted patients with either SMA or CP

- Clearance (sulphation) of paracetamol in patients with SMA, CP and ICU-admitted patients with either SMA or CP

- Clearance (CYP2E1 oxidation) of paracetamol in patients with SMA, CP and ICU-admitted patients with either SMA or CP

- Clearance (unchanged paracetamol) of paracetamol in patients with SMA, CP and ICU-admitted patients with either SMA or CP

- Volume of distribution of paracetamol in patients with SMA, CP and ICU-admitted patients with SMA or CP, in comparison with healthy controls.

- Liver function tests in patients with SMA, CP and ICU-admitted patients with SMA or CP.: ALT, AST, LDH, Alkaline Phosphatase, Bilirubin (U/L)

- Concentration-time data on plasma paracetamol, paracetamol-sulphate, paracetamol-glucuronide, paracetamol-cysteine and paracetamol-mercapturate (oxidative metabolites), plasma-glutathione and liver biomarkers (ALAT, PP, bilirubin, MicroRNA-122 (miR-122)).

Mette Cathrine Oerngreen

Principal Investigator

Elsass Foundation

Harvesting of muscular biopsies Muscular biopsies will be harvested from old sarcopenic patients undergoing hip replacement surgery

Harvesting of muscular biopsies Muscular biopsies will be harvested from young patients undergoing Anterior Cruciate Ligament (ACL) reconstruction surgery

Satellite cells isolated from muscular biopses

Sarcopenia

Muscular biopsies will be harvested during surgery; them satellite cells will be isolated and characterized in vitro.

Harvesting of muscular biopsies

Role of HIF-1α in Skeletal Muscle Aging

Role of Hypoxia Inducible Factor-1α (HIF-1α) in Skeletal Muscle Aging

Western blot analysis of HIF-1a levels and of its downstream targets (Vascular Endothelial Growth Factor: VEGF, phosphoglycerate kinase: PGK, Prolylhydroxilases: PHD2)

Real Time polymerase chain reaction: PCR analysis of MURF1 and atrogin1 (markers of muscular aging)

chromatin immunoprecipitation: ChiP seq analysis of HIF-1a downstream targets

To evaluate differences in cell number two different immunohistochemical analyses will be used in order to obtain a ratio: 1. Immunofluorescence for PAX7 (satellite cell markers) and 2. BrdU will be performed and the ration between PAX7 positive cells and bromodeoxyuridine: BrdU positive cells will be calculated.

Prolylhydroxilases: PHDs inhibitors (FG-4592 e PLG) will be tested in vitro to analyze HIF-1a downstream targets (Vascular Endothelial Growth Factor: VEGF, phosphoglycerate kinase: PGK, Prolylhydroxilases: PHD2) by real time PCR

Prolylhydroxilases: PHDs inhibitors (FG-4592 e PLG) will be tested in vitro to analyze cell proliferation (RealTime Glow and CellTox kits)

Prolylhydroxilases: PHDs inhibitors (FG-4592 e PLG) will be tested in vitro to analyze cell differentiation (Immunofluorescence and Realt Time PCR analysis for differentiation markers: MyoD, Myogenin and Myosin Heavy Chain)

Istituto Ortopedico Galeazzi

inflation of a blood pressure cuff on the bilateral thighs to 150 mm Hg for four 5-minute intervals

inflation of a blood pressure cuff on the bilateral thighs to 40 mm Hg for four 5-minute intervals

Duchenne Muscular Dystrophy (DMD)

Remote Ischemic Preconditioning Training Apparatus

Shiwen wu

The Safety, Efficacy and Tolerability of Remote Ischemic Preconditioning as a Therapy to DMD

General Hospital of Chinese Armed Police Forces

Myotonic Dystrophy

In addition to the current upright lung function evaluation we performed a supine spirometry

Supine spirometry

University Hospital of Nancy

Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

Evidence of ventilatory restriction assessed by lung function testing or hypoxemia or hypercapnia assessed by arterial blood gases analysis

Using results of upright and supine spirometry we intend to define variables that could predict poor respiratory outcome

Chenuel /Pr

University of Nancy

Central Hospital, Nancy, France

Neuromuscular Disease

Patients will be referred for evaluation for NNIV is indicated in patients with diurnal Pa,CO2 >6.0 Pa; and 2) nocturnal Sa,O2 <88% for 5 consecutive min. End tidal CO2 representing equivalent values will be referred for NNIV

Evaluation for Nocturnal non invasive ventilation

Novel Methods of Ambulatory Physiologic Monitoring in Patients With Neuromuscular Disease

muscular dystrophies/hypoxia

Paracetamol Study in Patients With Low Muscle Mass

Role of HIF-1α in Skeletal Muscle Aging

The Safety, Efficacy and Tolerability of Remote Ischemic Preconditioning as a Therapy to DMD

Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

Home Sleep Testing in Neuromuscular Disease Patients

Database tanaman obat terlengkap yang didukung oleh sains