Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by hyperextensible skin, joint hypermobility and additional connective tissue manifestations. For unclear reasons, hEDS is associated with many gastrointestinal (GI) and autonomic nervous system (ANS) complaints such as postural orthostatic tachycardia syndrome (POTS). This study will address the clinical relationship between hEDS/Hypermobile Spectrum Disorders and autonomic regulation and see if there is a benefit of two forms of non-invasive vagal nerve stimulation therapies to reduce GI symptoms in hEDS and POTS. The study will also investigate plausible effects of these nerve stimulation...
This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.
The goal of this project is to critically evaluate the effectiveness of using an online program to improve diet and self-care in patients with multiple sclerosis (MS), clinically isolated syndrome (CIS), fibromyalgia, post acute sequela of covid, and cancer in remission with persisting fatigue.
Autoinflammatory diseases (AID) are clinical entities characterized by recurrent inflammatory attacks in absence of infection, neoplasm or deregulation of the adaptive immune system. Among them, hereditary periodic syndromes, also known as monogenic AID, represent the prototype of this disease group, caused by mutations in genes involved in the regulation of innate immunity, inflammation and cell death. Based on recent experimental acquisitions in the field of monogenic AID, several immunologic disorders have been reclassified as polygenic/multifactorial AID, sharing pathogenetic and clinical features with hereditary periodic fevers. This has paved the way to new treatment...
The proposed research study aims to evaluate the effects of autologous bone marrow aspirate concentrate (BMAC) on the development and progression of osteoarthritis (OA) in patients undergoing meniscectomy. This prospective, randomized, double-blind clinical trial will compare patient-reported outcomes, specifically IKDC scores between patients who receive BMAC post-meniscectomy and those who receive a saline control injection. The study will also compare physical examination, MRI, radiographs, and synovial fluid analysis. Our hypothesis is that those who receive the autologous BMAC injection after the procedure will have better outcomes than those who do not.
A subset of autoimmune diseases (ADs) in children and young adults are life-threatening and unresponsive to conventional treatments. In these patients, the delivery of high dose immunosuppressive therapy followed by autologous stem cell transplant (ASCT) offers a treatment strategy capable of purging the pathogenic, autoreactive immune system and an opportunity for "immune reset." This strategy has been used in adults across a myriad of indications with evidence for efficacy. This study proposes a pilot study to evaluate this therapeutic strategy in children and young adults with systemic sclerosis (SSc) and systemic lupus erythematosis (SLE), two potentially life threatening...
The purpose of this study is to determine whether a regimen of high-dose immunoablative therapy will demonstrate safety that is consistent or improved with other published regimens in SSc patients, while maintaining a treatment effect.
The main objectives of this study are to confirm the long-term safety, performance and clinical benefits the Avenir Complete femoral stem and its instrumentation when used in primary total, hemi, and revision hip arthroplasty.
Background: Kohlmeier-Degos (KD) is a rare disease that causes inflammation and blood clots, leading to blockages in small blood vessels. These blockages can result in K-D lesions throughout the body, affecting the skin, lungs, heart, spinal cord, and brain. KD can be fatal. No treatment exists for this disease. Objective: To test a study drug (baricitinib) in people with brain and spine lesions caused by KD disease. Baricitinib is FDA approved to treat other disorders but has not yet been tried in people with KD. Eligibility: People aged 18 years or older with KD-related lesions in the brain and spine. Design: Participants will be screened; they will have a...
The objective of this study is to investigate if MRI can be used to evaluated effect of knee artery embolization for knee osteoarthritis. Participants be evaluated in clinic, obtain a knee MRI, undergo embolization of the symptomatic knee, and follow up in clinic at 1, 6, and 12 months after embolization. A second MRI is obtained 6 months after embolization. Participants will keep a record of their pain level and treatment and answer questionnaires at each visit. In addition, this study aims to determine the effects of knee artery embolization on the amount of opioid (pain reliever drugs) needed to manage osteoarthritis-associated pain and change in quality of life.