This research study aims to better understand patient experiences with accessing genetic counseling services for hypermobile Ehlers-Danlos syndrome (hEDS). The study will include a review of MUSC medical records to better understand referral patterns to genetic counseling services among patients with hEDS. Patients with hEDS will also be asked to complete a survey about their experiences with accessing genetic counseling services. Healthcare providers will be asked to complete a separate survey about their experiences referring patients with hEDS to genetic counseling services and potential factors that may influence the referral process. The surveys will take approximately 10-15 minutes to complete.

There are minimal risks to participants but may include possible loss of confidentiality or discomfort when answering questions related to healthcare experiences. There is no direct benefit to participants, but the information provided may help improve access to genetic counseling services for future patients with hEDS. Participation in the surveys is completely voluntary.

This is a randomized, double-blind, placebo-controlled, multicenter, parallel-group
study of the efficacy and safety of 2 weight-based treatment groups of plecanatide
versus placebo in children and adolescent participants 6 to less than 18 years of age with FC. Randomization will be stratified by sex to ensure balance across treatment groups.

Approximately 30 participants will be randomized to each of the Placebo, Low
Dose, and High Dose groups, within age group. Low Dose and High Dose will be
assigned once daily treatments based on the weight of the participant at
randomization to achieve weight-based dosing of 0.025 to 0.05 mg/kg in the Low
Dose treatment group and 0.05 to 0.1 mg/kg in the High Dose treatment group.

A single weight based dose of alcohol will be given to approximate an alcohol binge (aiming to achieve a blood alcohol concentration of approximately 0.08%) to investigate downstream effects on intestinal permeability and changes in hepatic steatosis. Several studies have been performed in humans under similar conditions and looking at similar things. The PI, Dr. Garth Swanson, conducted one of these studies previously. Here, participants will be given a weight-based dose (2mL vodka per kg body weight) of alcohol, with assessment of intestinal permeability via urine collection over the 24 hours directly following alcohol consumption, assessment of changes in hepatic steatosis by evaluation with fibroscan before and after alcohol consumption, and blood markers of endotoxemia and related inflammatory markers after. The weight-based dosing of alcohol was chosen to reflect previous studies looking at the effects of a single episode of alcohol binge use, with the goal of achieving a blood alcohol concentration of approximately 0.08%, the lower limit of what is needed to be considered an acute alcohol binge.

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.

In this study, we will recruit cirrhotic patients who are undergoing endocscopic procedures as part of their standard of care. Their endoscopies will reveal whether they have portal hypertensive gastropathy. After the procedure, we will ask the patients to provide us with a stool sample, which we will assess for occult GI bleeding. For those patients who DO NOT have occult GI bleeding, they will be contacted every 6 months for 2 years to check whether they have developed GI bleeding.