Metabolomics of Children With SMA
Spinal Muscular AtrophyThe aim of the proposed project is to evaluate whether the metabolome of patients with spinal muscular atrophy (SMA) before the initiation of treatment with nusinersen differs from the metabolome of healthy individuals and whether it changes 14 months after treatment with nusinersen.
VALIDation of Bedside Ultrasound of Muscle Layer Thickness of the Quadriceps in the Critically Ill...
Critical IllnessMuscle AtrophyThe overall objective is to evaluate the validity of bedside US of QMLT and MF-BIA by comparing measurements from US and MF-BIA to those estimates of lean body mass obtained from CT Scan of abdomen when done for clinical reasons. The investigators expect to observe a high degree of correlation between these 3 baseline measures and the changes in US measures and MF-BIA over time to correlate with changes to CT Scan measures of lean body mass.
Volatile Markers in Digestive Cancer
Colorectal CancerColorectal Adenoma7 moreThe study is aimed to determine the potential of volatile marker testing for identification of gastrointestinal cancers (in particular - colorectal and gastric cancers), the related precancerous lesions in the stomach and colon. The study will be addressing the role of confounding factors, including lifestyle factors, diet, smoking as well as addressing the potential role of microbiota in the composition of exhaled volatile markers.
Serial Daily Diaphragm Ultrasounds in Ventilated Patients
Muscle Atrophy or WeaknessVentilator-associated Lung InjuryWhen a person is put on a breathing machine the investigators think that the breathing muscles can get weaker. The investigators are not sure how quickly this happens but in some people this leads to problems when they try to breathe on their own without the breathing machine. The diaphragm is at the bottom of a person's chest separating their lungs from what is in their belly and it is a very strong muscle. In fact, it is main muscle that one uses for breathing. An ultrasound machine is a painless way to see what is happening beneath the skin. It is safe and easy to do. Using an ultrasound the investigators are planning to measure how thick the diaphragm is and how much it changes while a person is on a breathing machine in the ICU. Getting a better understanding of this condition could lead to improved treatments that might help support patients who require a ventilator for breathing. The investigators hypothesis is that patients for whom the breathing machine is doing all of the work of breathing, will have their diaphragm thickness gradually decrease and changing to a breathing modem mode where they have to put in more effort the diaphragm thickness will start increasing again.
Cirrus HD-OCT Measurement of Area of Increased Light Penetration Under the Retinal Pigment Epithelium...
Age Related Macular DegenerationGeographic AtrophyThe objective of this study is to compare Cirrus HD-OCT automated measurements of the illumination area under the retinal pigment epithelium (RPE) to expert manual measurements of areas of hypofluorescence typical of geographic atrophy in fundus autofluorescence (FAF) images.
Effect of H. Pylori Eradication on the Reversibility of Atrophic Gastritis and Intestinal Metaplasia...
Helicobacter Pylori InfectionAtrophic Gastritis1 moreHelicobacter pylori (H. pylori) infection has been associated with a development of atrophic gastritis and intestinal metaplasia. H. pylori related atrophic gastritis and intestinal metaplasia have been regarded as pre-malignant lesion. However, the role of H. pylori eradication treatment in the reversibility of atrophic gastritis and intestinal metaplasia has not been clearly defined. The aim of the present study was to investigate the relationship between H. pylori eradication and the reversibility of atrophic gastritis and intestinal metaplasia in Korean patients.
Investigation of the Serotoninergic System in Multiple System Atrophy: a Positron Emission Tomography...
Multiple System AtrophyMultiple system atrophy (MSA) is a sporadic neurodegenerative disorder of the adult associated to a poor prognosis. MSA is clinically characterized by the association of extra-pyramidal, dysautonomic, cerebellar and pyramidal symptoms. Histological and biological studies have raised the hypothesis that, beside the well known dopamine deficiency, some of the symptoms could be related to a dysfunction in serotoninergic neurotransmission. Serotonin is involved in the modulation of several functions impaired in MSA, such as mood, motricity or sleep. The recent description of an association between loss of brainstem serotonin neurons and sudden death in patients with MSA reinforced the hypothesis of a critical role played by this neurotransmitter in the pathophysiology of this disease. Autoreceptors called 5-HT1a are strongly involved in the regulation of serotonin neurotransmission. During the last years several radio-ligands allowing in vivo PET quantification of 5-HT1a receptors, such as 18F-MPPF (4-(2'-methoxyphenyl)-1-[2'-(N-2''-piridinyl)-p-fluorobenzamide]methylpiperazine), were developed. Moreover, the investigators recently demonstrated the ability of this brain functional imaging method to investigate, in healthy volunteers, the functional properties of 5-HT1a autoreceptors through an evaluation of their desensitization after a single oral dose of fluoxetine.
NMES to Prevent Respiratory Muscle Atrophy in Mechanically Ventilated Patients
Mechanical Ventilation ComplicationNeuromuscular Electrical Stimulation1 morePatients requiring prolonged time on the ventilator are susceptible to a wide range of clinical complications and excess mortality. It is therefore imperative for them to wean at the earliest possible time. Respiratory muscle weakness due to disuse of these muscles is a major underlying factor for weaning failure. Surprisingly, there is not much known about the impact of critical illness and MV on the expiratory abdominal wall muscles.These muscles are immediately activated as ventilation demands increase and are important in supporting respiratory function in patients with diaphragm weakness. Weakness of expiratory abdominal wall muscles will result in a decreased cough function and reduced ventilatory capacity. These are considerable causes of weaning failure and (re)hospitalisation for respiratory complications such as pneumonia. Recent evidence shows that neuromuscular electrical stimulation (NMES) can be used as a safe therapy to maintain skeletal muscle function in critically ill patients. This study will be the first to test the hypothesis that breath-synchronized NMES of the abdominal wall muscles can prevent expiratory muscle atrophy during the acute stages of MV.
Procedural Sedation for Pediatric Patients With Spinal Muscular Atrophy
Muscular AtrophySpinal3 moreBackground and Aim: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by progressive symmetrical weakness and atrophy of proximal muscles causing from degeneration of anterior horn cells of spinal cord. Nusinersen must be administered intrathecally and this treatment is specially for spinal muscular atrophy. Procedural sedation is commonly enough for intrathecal treatment in children. In this retrospective study, the investigators aimed to present our experience in procedural sedation for the intrathecal treatment of patients with SMA 1,2 and 3 in our hospital.
Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography...
Muscular DiseasesSpinal Muscular AtrophyThis study aims to refine the capability of Multispectral Optoacoustic Tomography (MSOT) and Magnet Resonance Imaging (MRI) to characterise the molecular composition of muscle tissue non-invasively and to evaluate the therapeutic response in patients with spinal muscular atrophy (SMA) over time.