The mTOR pathway is fundamental to nearly every cell in the body. It drives processes related to cell growth, protein production and metabolism, influencing everything from neurocognition to tumor growth. Because of this broad role, indications for drugs targeting the mTOR pathway are also remarkably broad.
Alexander Malloy, 14, is one of the first patients to benefit from a new use: curbing rapid bone loss in patients with a rare “vanishing bone disease,” or Gorham-Stout syndrome. It was discovered when Alex, who had mild scoliosis, started getting worse. To his parents’ shock, an MRI scan showed he was missing bones in his spine.
Gorham-Stout is actually the result of a rare vascular anomaly. …
The FDA has approved first-in-human trials for the bridge-enhanced ACL repair technique. A total of 20 patients will participate. Ten will serve as an experimental group and they will undergo a bridge-enhanced ACL repair surgery. The other 10 patients in the study will have the standard ACL reconstruction procedure and serve as a control group.
The anterior cruciate ligament (ACL) is a powerhouse and the perplexing nexus of a sports injury epidemic.
Providing primary stability across the knee joint, the ACL is remarkably susceptible to rupture or tear, with more than 400,000 surgical reconstructions performed annually in the U.S.
In the 2013 National Football training camps, more than a dozen players were sidelined with ACL injuries. This spate of ACL tears is sure to ripple through high school and college football and soccer fields this fall.
A complete ACL tear is a devastating injury for athletes, typically ending the player’s season and requiring surgical reconstruction. Although many athletes return to the field after reconstruction and physical therapy, studies suggest as many as 80 percent will develop arthritis within 14 years of the injury.
Moreover, children and adolescents are not considered good candidates for ACL reconstruction. The conventional procedure requires surgeons to drill tunnels through the growth plates—the developing cartilage near the end of long bones—but this can disrupt bone growth.
Boston Children’s Hospital orthopedic surgeon Martha M. Murray, MD, wants to change the game plan for ACL injuries. Her research focuses on bio-enhanced ACL repair that uses a bio-engineered scaffold saturated with the patient’s own blood to stimulate healing and to promote clotting, …
As more and more children sign up for organized sports, knee injuries such as anterior cruciate ligament (ACL) or meniscus tears have continued to rise. But less well known is osteochondritis dissecans, or OCD – an injury that can have a devastating effect on the knee joint if not diagnosed early and managed properly. Kids’ worlds are turned completely upside down by OCD, when they go from the playing field to crutches.
OCD starts when a small area of bone just under the knee’s smooth cartilage loses some of its blood supply. The starved bone tissue starts to weaken and crumble, and, without this scaffold to support it, the cartilage can weaken as well. Sections of cartilage can even break off as free-floating bodies in the joint space – sometimes with pieces of bone attached to them – leaving behind large defects in the joint’s surfaces.
Children with cerebral palsy (CP), the most common form of physical disability in children, all experience at least some difficulties in communication and movement. Those with the most severe forms of CP sometimes undergo reconstructive surgery on their hips and spine to correct dislocations or scoliosis. But do these operations actually improve quality of life?
“I’ve taken care of children with cerebral palsy for 21 years, and I’ve always wondered what the outcomes were of the surgeries,” says Rachel DiFazio, a nurse practitioner with the CP Program at Children’s Hospital Boston. “We have a lot of X-ray data and range-of-motion data, but we don’t really know if it gets any easier to take care of these children, whether life gets a little bit easier after the surgery, and in what ways.” …
Work your bones, get more bone. The link between exercise and bone density has been recognized for a long time. It works like this: As you work out, your muscles pull on your bones, causing strain. Cells embedded in the structure of your bones called osteocytes sense the strain and put out a call to other bone cells, osteoblasts, to start churning out proteins and minerals that make your bones denser and stronger. Which is why a history of load- or weight-bearing exercise can help prevent osteoporosis.
What if we could awaken osteocytes artificially, helping adults and children with brittle bone diseases make more of the bone they need? Scientists may be closing in on a way to do this, using a gene called Lrp5 that plays a key role in passing along the biochemical signals that translate strain into bone. …