Researchers have identified the RMRP gene responsible for cartilage-hair hypoplasia, a rare syndrome causing dwarfism. The discovery may lead to better understanding and treatment of the disease, which affects worldwide but is prevalent in Finnish and Amish populations.
The Johns Hopkins Division of Pulmonary and Critical Care Medicine is working on identifying genes involved in 10 heart and lung diseases. The researchers will use DNA microarray technology to examine tissue samples from 10 patient populations.
A study of 300 former professional footballers found that almost two-thirds had experienced osteoarthritis, with knee problems being the most common. Anxiety and depression were also prevalent among those with this type of joint disease, which often led to early retirement.
Scientists have characterized gene mutations in families affected by pseudoxanthoma elasticum (PXE), a rare disorder that can lead to progressive loss of vision, gastrointestinal bleeding, and cardiovascular disease. The study provides the basis for DNA-based carrier detection and prenatal testing.
Research found that low dietary vitamin C intakes are associated with higher rates of periodontal disease, particularly in smokers. Vitamin C's antioxidant properties play a crucial role in maintaining healthy connective tissue and combating oxidative stress.
A study by Penn State researcher Dr. Mark D. Hayward found that people with childhood illness are more likely to develop cancer, lung disease, and arthritis in adulthood, regardless of their socioeconomic status. Investing in children's health could lead to significant benefits for adult healthcare.
Molecular geneticists have characterized gene mutations in families with pseudoxanthoma elasticum (PXE), a rare inherited disorder that can lead to blindness, early heart attacks, and cardiovascular disease. The study provides the basis for DNA-based carrier detection, prenatal testing, and improved diagnosis of the condition.
A series on rheumatology highlights key steps for diagnosing arthritis and managing related conditions. The series aims to address the growing need for accurate diagnoses and treatment plans in an aging population.
Researchers identified a new treatment approach that could prevent life-threatening complications of alpha-1-antitrypsin deficiency. A drug called 4-phenylbutyric acid (PBA) improved secretion of mutant protein, increasing levels by 20% to 50%. This approach may also help patients with other diseases such as Alzheimer's and Parkinson's.
Researchers are conducting the largest study ever to identify the genetic susceptibility for osteoarthritis, a condition affecting over 21 million Americans. The three-year study will analyze DNA samples and health histories of 1,400 families with multiple siblings diagnosed with primary generalized osteoarthritis.
A historical review suggests that European dancing traditions may have roots in a neurological disorder causing dance-like movements. The Dancing Procession of Echternach, which occurs on the Tuesday following Pentecost, has been linked to the medieval disease hysteric chorea, which caused involuntary dance-like movements.