Biomarkers in Parkinsonian Syndromes
Parkinsonian SyndromesParkinson's Disease2 moreParkinson disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) are neurodegenerative disorders. PD and MSA are alpha-synucleinopathies, which are characterized by the abnormal accumulation of alpha-synuclein, while tau protein accumulates in PSP. The development of biological markers for the diagnosis and prognosis in PD, MSA and PSP remains an unmet need. Such biological markers are crucial for future disease-modification and neuroprotection trials. Alpha-synuclein has a high potential for biomarker development since it constitutes the pathological hallmark feature in PD and MSA. The oligomeric alpha-synuclein seems to be particularly involved in abnormal protein aggregation in alpha-synucleinopathies. The main objective is to compare oligomeric alpha-synuclein CSF levels between PD, MSA and PSP patients. PD and MSA patients will receive Cerebrospinal Fluid (CSF) and blood sampling at two study visits (baseline and after 12 months). Major secondary objectives are (i) to assess potential associations between the biomarker and clinical measures of disease severity and progression in MSA and PSP, and (ii) to assess the variation of the biomarker and its correlation to disease severity and progression in PD, MSA and PSP.
Fixation Free Sandwich Osteotomy With an Interpositional Inlay Graft in Compere to Conventional...
Vertical Ridge DeficiencyAtrophic MaxillaThe atrophatic anterior maxilla present a considerable challenge for both surgical and prosthetic rehabilitation, as it may require bone augmentation to enable implant placement. The techniques proposed for vertical augmentation of the alveolar ridge include distraction osteogenesis, only grafting, and sandwich osteoplasty. Sandwich osteotomy is reported to provide more stable and predictable results with respect to the height of the alveolar ridge. The main advantage of osteotomy techniques that employ Interpositional bone grafts is reported to be the improved blood supply in the augmented region.
Dynamic Proteomics and Integrated Rates of Muscle Protein Synthesis During an Acute Period of Loading...
ProteomicsExercise3 moreSkeletal muscle plays several different roles in the promotion and maintenance of health and well-being. The loss of muscle mass that occurs with aging, chronic muscle wasting diseases, and physical inactivity puts people at an increased risk of frailty and becoming insulin resistant, and therefore imposes a significant burden on health care spending. Resistance exercise participation has proven particularly effective for increasing muscle mass and strength. This effectiveness can be used by health care practitioners in a rehabilitation setting to promote the recovery of individuals who have undergone involuntary periods of muscular unloading (i.e. limb immobilization caused by a sports injury or reconstructive surgery). However, there is large variability in the amount of muscle mass and strength that people gain following participation in resistance exercise. Some individuals fail to increase the size of their muscle (low responders) whereas others show vary large increases in muscle size (high responders) in response to the same resistance training program. People also show differences in the amount of muscle tissue they lose when they have a limb immobilized. To circumvent variability across individuals, the investigators utilized a within-person paired Hypertrophy and Atrophy ('HYPAT') strategy that reduced response heterogeneity by ~40% (Available at: https://ssrn.com/abstract=3445673). Specifically, one leg performed resistance training for 10 weeks to induce hypertrophy, whereas the other leg underwent single-leg immobilization for 2 weeks to induce atrophy. The primary goal of the study will be to gain insight into the molecular responses to an acute period of single-leg immobilization and resistance exercise (8 days). The investigators will use an integrated systems biology approach to monitor the individual rates of over one hundred different muscle proteins.
Evaluation of the Safety and Performance of the MILTA GYNECO Vaginal Probe in Postmenopausal Women...
MenopauseUrinary Incontinence1 moreVulvovaginal atrophy is common after menopause, with a significant negative effect on quality of life. Large cohort studies have reported the prevalence of vaginal dryness to be between 27% and 55% and dyspareunia between 32% and 41%. Management of urogenital atrophy includes lifestyle modification, nonhormonal treatments (vaginal lubricants or moisturizers, laser treatments), as well as hormonal treatments. The disadvantages of the non-surgical methods are average results, discontinuation, and frequent contraindications to hormonal treatments.This has led to a strong interest in the development of non-invasive or minimally invasive methods that are easy to implement, effective and durable. Photobiomodulation therapy (PBMT) has been proposed as an alternative for the treatment of genitourinary menopausal syndrome (GMS) and stress urinary incontinence. PBMT devices exert their effect via non-thermal mechanisms. PBMT stimulates collagen and elastin synthesis in the vaginal tissue, to support the urethrovaginal sphincter and urethra, and to promote vasodilation in the vaginal and urethral submucosa. PHYSIOQUANTA has developed a vaginal probe coupled with its innovative MILTA™ process synergistically combining NPCL (Nano-Pulsed Cold Laser) laser emitters, infrared diodes and RGB (Red Green Blue) diodes, operating in a magnetic tunnel. The MILTA acts deeper than LEDs, due to the diffusion of photons in soft tissues. In this study, the study investigators aimed to evaluate the safety and performance of the MILTA™ GYNECO vaginal probe in a pilot study of first use in women. This clinical study on the MILTA vaginal probe is expected to result in its CE marking Class IIb DM.
Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy
Muscle Tone PoorSpinal Muscular AtrophyThe primary aim of the study was to measure the intra-rater and inter-rater reliability of MyotonPRO in measuring postural muscle tone and mechanical properties in individuals with spinal muscular atrophy (SMA). The secondary aim is to question the existence of a relationship between the functional levels of individuals with SMA and their muscle tone and biomechanical properties. It is assumed that the outputs to be obtained from this research will form the norm data for moyotonometer evaluation in children with SMA.
A Prospective Trial to Assess Breast Cancer Survivors and Vaginal Atrophy Treatment Outcomes
Vaginal AtrophyGenitourinary System; Disorder4 moreThe focus of this study is to assess breast cancer survivors perspectives of Viveve® Treatment using patient reported outcome tools with a focus on symptoms associated with vulvovaginal atrophy/genitourinary syndrome of menopause (GSM). This will be assessed by the FSFI, FSDS-R and DIVA questionnaires.
YOOMI: Effect of Gamified Physical Therapy Exercise Software on Inpatient Mobility
WeaknessMuscle6 morePatients admitted to the hospital often develop functional impairments due to being in bed most of the day. Each day of bedrest leads to significant muscle loss. As a result, many patients become dependent on others or require rehabilitation at a facility to improve mobility and function prior to returning home. Staff in the hospital is limited and often unable to mobilize patients every day while hospitalized. The investigators are testing a new experimental gamified physical therapy exercise software to see if it can be a fun, enjoyable way to help mobilize patients without the assistance of staff. The primary aim of this pilot/proof of concept study is to determine whether gamified physical therapy software can help inpatients exercise within the safety of their own beds and preserve pre-hospitalization function.
Adult Spinal Muscular Atrophy (SMA) China Registry
Muscular AtrophySpinalThe primary objective of the study is to describe the natural history and utilization of disease modifying therapy (DMT) among adult Chinese participants with SMA linked to chromosome 5q (5q-SMA).
MAP THE SMA: a Machine-learning Based Algorithm to Predict THErapeutic Response in Spinal Muscular...
Spinal Muscular AtrophySpinal Muscular Atrophy (SMA) is caused by the homozygous loss of the Survival Motor Neuron (SMN) 1 gene, which leads to degeneration of spinal alpha-motor neurons and muscle atrophy. Three treatments have been approved for SMA but the available data show interpatient variability in therapy response and, to date, individual factors such as age or SMN2 copies,cannot fully explain this variance. The aim of this project is: collect clinical data and patient-reported outcome measures (PROM) from patients treated with nusinersen, risdiplam, onasemnogene abeparvovec, identify novel biomarkers and RNA molecular signature profiling, develop a predictive algorithm using artificial intelligence (AI) methodologies based on machine learning (ML), able to integrate clinical outcomes, patients' characteristics, and specific biomarkers. This effort will help to better stratify the SMA patients and to predict their therapeutic outcome, thus to address patients towards personalized therapies.
Natural History of Geographic Atrophy Associated With Age-Related Macular Degeneration
Age-Related Macular DegenerationBackground: Age-related macular degeneration (AMD) affects the macula in the eye. This is the central part of the retina. It is needed for sharp, clear vision and activities like reading and driving. AMD is the leading cause of vision loss in Americans 60 years of age and older. An advanced form of AMD is called geographic atrophy or GA. It happens when light-sensitive cells in the macula die so much that central vision decreases. Objective: To learn more about geographic atrophy associated with age-related macular degeneration. Eligibility: Adults at least 55 years old with a certain kind of GA. They must be enrolled in study 08-EI-0102, 08-EI-0169, 08-EI-0043, 12-EI-0042, or 11-EI-0147 but no other studies. Design: Participants will be screened with medical history, physical exam, and an eye exam. Participants will have study visits every 3 months for 15 months, then every 6 months. They will be in the study almost 4 years. Visits will last about 8 hours. At each visit, participants may have: Medical and eye history. Participants will answer questions about their general health and eye health. They may answer written questions about how their eye problems affect their life. Eye exam and photographs. Eye pressure will be measured and eye movements will be checked. Pupils will be dilated with drops. The thickness of the retina will be measured and photos of the eye may be taken....