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Filter by:This study involves a single family, including 1 patient, father, mother and sister. The patient presented with a new phenotype associating premature white hair, renal polycystosis, aortic dilation/dissection and lymphopenia. Samples were taken in order to identify the origin of the symptomatology highlighted in the index case. In addition, it was observed that mice invalidated for bcl-2, normal at birth and indistinguishable from control mice, showed, after one week, a phenotype similar to that observed in this patient. The overlap between the patient's main clinical signs (lymphopenia, white hair and polycystic renal disease) and the manifestations presented by the invalidated murine model for BCL2 suggests that its phenotype may be secondary to a Bcl-2 expression defect.
Finding a way to use Vertebral CT scan will help to predict screw loosing risk in spinal fusion for degenerative spine disease. Patients who will undergo at least two spine fusion levels for degenerative spine disease will be enrolled in. Before surgery, patients will undergo a spinal QCT scan with a calibrated phantom. The calibrated bone density, at bone-implant interface, will be assessed using dual energy CT scan immediately after surgery, and six months later. The primary outcomes will be the difference between the two values of the bone implant interface. The difference between density values will be correlated to the pre-op bone density value.
Tongue cancer requires resection and reconstruction that can leave patients disabled with respect to speaking and eating. Impairment of tongue function can have significant impact on social interaction and employment. To try and improve speaking and eating in public, the team at the University Health Network is going to use a special device that is designed to help the patient rehabilitate after tongue cancer treatment. The research part of this study is to use a special mouthpiece or mold that is like a partial plate for upper dentures that will fit on the roof of the mouth. This mold is embedded with 62 sensors that will allow patients to visualize their tongue position during speech. With the help of a speech therapist, patients can learn different tongue positions important speaking and eating. This whole process is called biofeedback. The visualization of the tongue gives the patient the flexibility to practice at home to and learn different tongue positions important to eating and speaking. In addition, the device will provide the speech pathologist with an opportunity for easier and more precise assessment of the patient's progress which can reduce the need for visits to the hospital. The investigators expect the biofeedback training to improve the patient's speaking and eating. The study hypothesis is that the biofeedback device will improve speech intelligibility, eating in public, speaking in public, and oral intake scores.
This study will test the safety and efficacy of FOR46 given every 21 days to patients with relapsed or refractory multiple myeloma. The name of the study drug involved in this study is: FOR46 for Injection
Non-invasive ventilation (NIV, delivered via a mask or cannulas) permits to reduce the need for tracheal intubation in infants who needs a ventilatory support. NIV can be delivered with nasal CPAP (continuous positive airway pressure) or NIPPV (nasal intermittent positive pressure ventilation). The synchronization of the respiratory support according to the patient's demand is very difficult to obtain in infants with the conventional ventilatory modes. In all these ventilatory modes, the end-expiratory pressure (PEEP) is fixed and set by the clinician. However, since infants are prone to alveolar collapse and must compensate for a non-compliant chest wall, an active and ongoing management of PEEP is very important to prevent the lung de-recruitment. A new respiratory support system (NeuroPAP) has been developed to address these issues of synchronization and control of PEEP. This new system uses diaphragmatic tonic activity (Edi) that reflects the patient's efforts to increase lung recruitment and therefore it continuously controls the delivery of assist continuously both during inspiration (like NAVA) and during expiration, allowing a unique neural control of PEEP. A new device, the NeuroBOX, permits to deliver NIV with NeuroPAP, CPAP, or NIPPV, and also to serve as a cardio-respiratory monitor, tracking and displaying cardiac and respiratory signals, trends, and cardio-vascular events. The two main objectives of this study are: 1- To evaluate the clinical impact of NeuroPAP in infants with high tonic Edi; 2- To characterize the cardio-respiratory pattern and its relationship with cerebral perfusion of infants with noninvasive support, using the monitoring capacity of the NeuroBOX. The investigators expect that NeuroPAP will permit to improve the efficiency of NIV in infants, through the better synchronization and the personalization of the expiratory pressure level in response to the patient needs. This study will be conducted in two subgroups of patients at high risk of elevated tonic Edi and of cardio-respiratory events: a subgroup of premature infants and a subgroup of infants with bronchiolitis.
The purpose of this study is to compare clinical outcome in posterior cruciate ligament-substituting total knee arthroplasty with onlay patellar resurfacing technique and inlay patellar resurfacing technique
The primary objective is to collect clinical data to confirm performance and safety for RADIESSE® (+) Lidocaine, when used in accordance with its labelling in the treatment of nasolabial folds, marionette lines and/or upper cheek volume loss.
Comparison of three different pediatric emergency rulers for length-based body weight estimation in pediatric emergencies. Primary outcome is the time needed to identify four defined parameters from the pediatric emergency rulers during a low-fidelity pediatric emergency scenario (cardiac arrest). Secondary outcome is the correctness of the identified parameters and the percentage deviation from the correct value.
This is a Phase I stage to investigate the safety and tolerability of MG-S-2525 in healthy volunteers. The proposed trial consists of 3 study parts to be conducted at Tri-Service General Hospital and includes Single Ascending Dose (SAD), Multiple Ascending Dose (MAD) and Food Effect parts. This study will enroll up to 16 evaluable subjects in the SAD part, 36 evaluable subjects in the MAD part and enroll up to 20 evaluable subjects for the Food Effect part.
Oral L-citrulline supplementation may prevent and/or decrease the severity of chronic lung disease associated with pulmonary hypertension in preterm infants. Since oral L-citrulline supplementation has never been studied in preterm infants before, the side effect profile and appropriate dosing are still unknown. In this pilot study, the investigators will determine the safety profile, efficacy and appropriate dosing of oral L-citrulline in preterm infants. In the future, information from this study will be utilized to conduct a randomized placebo-controlled trial to evaluate the role of L-citrulline supplementation in treating BPD_PH.