This study aims to improve our understanding of Cystic Fibrosis Transmembrane Conductance Regulator(CFTR)-related metabolic syndrome(CRMS), a term used for some infants whose newborn screening results suggest they may be at risk for cystic fibrosis but who do not currently meet the criteria for a cystic fibrosis diagnosis. CFTR stands for cystic fibrosis transmembrane conductance regulator and refers to a gene that provides instructions for making a protein that helps control the movement of salt and water in and out of cells. Changes in this gene can increase a person's risk of developing cystic fibrosis or related health concerns.

The study has two goals. First, we will review existing medical records to better understand the health conditions, symptoms, and long-term health of children with CRMS and adults with cystic fibrosis diagnosed later in life who receive care at the Medical University of South Carolina pulmonary clinic. Second, we will survey parents of children with CRMS to better understand how receiving a CRMS designation affects families emotionally and in their daily lives.

Smell loss has been found to be associated with mortality and neurodegenerative diseases. Unfortunately, there are no current biomarkers for olfactory loss and no specific mechanism to explain exactly how this association occurs. This study aims to uncover more about smell loss and its association with neurodegenerative disease such as Parkinson's disease, Alzheimer's disease, Multiple Sclerosis, and Mild Cognitive Impairment in the early/mild stages of those conditions. Study procedures involve questionnaires, a 40-item scratch and sniff smell test, assessment of cognitive function, blood sample, and nasal mucus and cell samples collected by a physician.

The purpose of this research study is to learn how the nervous system functions in individuals with and without spinal cord injury, and examine how this relates to function. As part of this study, procedures may include nerve stimulation, brain stimulation, imaging (MRI), walking assessments, measures of brain activity, sensation testing, measures of arm or leg function, and self-report measures regarding daily activities and quality of life. The duration of participation depends on the number of procedures to which an individual is consented.

The goal of the DDRCC Biorepository is to collect human samples and health information to store for future research. Samples to be collected are blood, tissue (gastrointestinal, liver, pancreas and/or lymph nodes), stool, and cheek swabs. Participants may be eligible to enroll if scheduled for a clinical visit or surgical procedure during which these samples could be collected.

This research study is being conducted at the Medical University of South Carolina (MUSC). The purpose of this study is to better understand injury to the small nerves that run between the ribs following rib fractures, and to learn what normal sensation and muscle appearance of the abdominal wall (muscles of the stomach area) look like in healthy adults. This information will help doctors better recognize and diagnose nerve injuries in patients who have had trauma, surgery, or other conditions affecting the abdominal wall.

Researchers will use simple sensory testing of the skin of the abdomen and ultrasound imaging to measure abdominal muscle structure. The sensory testing, called two-point discrimination, measures how well participants can tell the difference between two nearby points touching the skin using a small measuring tool that lightly touches the skin of the abdomen. Ultrasound imaging uses sound waves to create images of the inside of the body and will be used to measure the thickness and appearance of the abdominal muscles. This study includes two groups of participants: healthy volunteers and individuals with rib fractures.

Healthy volunteers will complete a single study visit lasting about 45 minutes, during which participants will undergo sensory testing, ultrasound imaging, and a short questionnaire. Participants with rib fractures will complete research procedures during their scheduled clinical follow-up visits, which include a baseline visit and three follow-up visits over approximately 12 weeks; research activities, including ultrasound imaging, will add about 30 minutes to each visit.

This research study aims to improve care coordination in the context of cancer survivorship care by understanding how primary care providers and cancer specialists share responsibilities. Researchers want to understand how technology can help these teams communicate more clearly and effectively to coordinate care for survivors. The study team will use surveys and conduct interviews and focus groups for interested and eligible participants as methods of data collection to inform the research. Oncologists, primary care physicians, and survivors of breast, prostate, lung, colon and rectal cancer that meet the eligibility criteria will complete surveys and engage in interviews to understand barriers and identify strategies to improve care. Using this information, the team will create an intervention plan called ACT that addresses common barriers, using focus group discussions to refine the intervention. The ultimate goal is to help patients receive better and more coordinated follow‑up care.

This study aims to improve cancer survivorship care work by refining how primary care providers and cancer specialists share responsibilities. Researchers want to understand how technology can help these teams communicate more clearly and effectively to coordinate care for survivors. The study team will use surveys, conduct interviews and organize focus groups for interested and eligible participants as methods of data collection to inform the research. Oncologists, Primary Care Physicians, administrative leads and colon or rectal cancer survivors that meet the eligibility criteria will complete surveys, engage in interviews and group discussions from each perspective to learn strategies to improve care, including who should handle which parts of survivorship care. Using this information, the team will create an intervention plan called PRIMES that outlines strategies to overcome common barriers. The ultimate goal is to help survivors receive better and more coordinated follow‑up care.

To improve the diagnosis of metabolic dysfunction-steatotic liver disease (MASLD) in primary care, this study will develop, test, and internally validate a predictive model for MASLD in a cross-sectional sample of patients with no known chronic liver disease. Patient metabolic variables, like weight, blood pressure, and blood sugar will be considered for inclusion in the model, and ultrasound-based vibration-controlled elastography will be used for determining the outcome. This work will dramatically enhance MASLD diagnosis and management in primary care.

This study is being done to see how well a device called FibroScan can detect high pressure in the large vein that carries blood to the heart. FibroScan is a quick, painless test that measures how stiff the liver is, and researchers want to know if those measurements can help identify people with elevated central venous pressure. You are being asked to participate because you have been suspected of having, or diagnosed with, heart failure. Everyone in the study will have the same tests, which include a FibroScan exam, heart ultrasound, EKG, blood work, and a right-heart catheterization. The study lasts about one week and includes a screening visit, a baseline visit, and a phone check-in. By taking part, you may help researchers learn whether this noninvasive device can provide useful information about heart function. Participation is completely voluntary, and choosing not to join will not affect your medical care.

Sharing Our Stories: The Realities of Living with Ehlers Danlos Syndromes (EDS) is a research study to help better understand what it is like to live with EDS. Adults with EDS will complete a one-time video interview with a member of the research team. We hope to better understand the challenges adults with EDS face and learn from them things that make it more difficult and easier to receive care, what their needs are and recommendations for improving an earlier diagnosis, care, and treatment.