Clinical Research Directory

Evaluation and Treatment of Patients With Connective Tissue Disease

This study offers evaluation and treatment of patients with a suspected connective tissue disorder. The protocol is not designed to test new treatments; rather, patients receive standard care. The study is designed to: 1) allow NICHD's staff to learn more about connective tissue disorders, 2) train physicians in the evaluation and treatment of these disorders; and 3) establish a pool of patients who may be eligible for other NICHD protocols for connective tissue disorders. (Participants in this protocol will not be required to join another study; the decision will be voluntary.) Patients of all ages with a suspected connective tissue disorder and their unaffected family members may be eligible for this study. Participants undergo diagnostic procedures that may include a medical history, physical examination, X-ray studies, eye examinations, and blood drawing, as well as other specialized tests, when needed. Additional tests may include: * Blood test for DNA genetic analysis * Skin biopsy: Removal of a small piece of tissue for microscopic examination. The area of skin selected for the biopsy is numbed and a small circle of skin, usually from the upper arm, is removed with a surgical cookie cutter-like instrument. * Magnetic resonance imaging (MRI): This test uses a strong magnetic field and radio waves to show structural and chemical changes in tissues. The patient lies on a table that slides into a narrow cylinder containing a magnetic field. Ear plugs are worn to muffle loud knocking and thumping sounds that occur with electrical switching of the magnetic fields. * Computed tomography (CT) scans: This test allows the doctor to view the organs inside the body in small sections. The patient lies in a doughnut-like machine. Scanning can be done from different angles, allowing a three dimensional picture of the part of the body being studied. It may be done with or without injection of a contrast material. * Referral to appropriate sub-specialists when potential complications are found.

Physiotherapy and Rehabilitation in Melorheostosis: A Case Report

The aim of this study is to evaluate the effects of a structured physiotherapy and rehabilitation-based exercise program on clinical and functional parameters in a patient diagnosed with melorheostosis. This study specifically aims to assess the effects of a structured physiotherapy and rehabilitation-based intervention program, including patient education and therapeutic exercise, on lower extremity functional parameters, muscle strength, balance, and quality of life in a patient with melorheostosis. The main hypotheses: H0: A structured physiotherapy and rehabilitation-based exercise program has no effect on improvement in clinical and functional evaluation parameters in a patient with melorheostosis. H1: A structured physiotherapy and rehabilitation-based exercise program leads to improvement in clinical and functional evaluation parameters in a patient with melorheostosis.