Mutant Gene Causes Muscles, Ligaments And Tendons To Turn Into Bones

According to recent research carried out at the University of Pennsylvania, USA, a mutant gene causes Fibrodysplasia Ossificans Progressiva (FOP), a rare incurable disorder which gradually turns muscles, ligaments and tendons into bone. A patient with FOP eventually becomes enveloped in a second skeleton and cannot move. The disorder usually begins in childhood.


About one in two million people suffer from FOP.


According to Frederick Kaplan, lead researcher "The discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton."


The gene in question is called ACVR1.


The researchers hope this new breakthrough may be the first step towards the development of an effective medication for FOP sufferers. It could also lead to better treatment for other bone related conditions and injuries.


You can read about this study in the journal Nature Genetics.


What is Fibrodysplasia Ossificans Progressiva?


Fibrodysplasia Ossificans Progressiva is also known as Myositis Ossificans Progressiva. It is a rare genetic disorder.


Muscles, tendons, ligaments and other connective tissue gradually turn into bone. As bone forms across joints it progressively restricts movement. Eventually the patient has an extra skeleton that immobilizes all the joints.


Symptoms


A newborn infant will appear normal, except for those with congenital malformations of the big toe. During their first ten or twenty years of life, patients develop painful fibrous nodules over the neck, back and shoulders. These nodules gradually turn into bone. The process of turning into bone is called heterotopic ossification.


The trunk and limbs are then affected. The body's muscles begin to be replaced with normal appearing bone. If surgeons try to remove the bone, it is replaced by even more than there was before. The upper regions of the body tend to be affected before the lower regions.

Latest Research Findings At The American Academy Of Orthopaedic Surgeons Annual Meeting

Leading orthopedic surgeons and other clinicians from Rush University Medical Center are presenting new basic and clinical research findings at the American Academy of Orthopaedic Surgeons annual meeting in Las Vegas, Nev., on February 25-28. Highlights from some of the educational sessions led by orthopedic experts from Rush as well as some of the podium and poster presentations to be made by physicians from Rush include:



Dr. Joshua Jacobs - Joint Reconstruction
Educational session: Current Controversies in Bearing Surface Science, Wednesday, February 25, 8 a.m.


Educational session: Technology 2009: Alternative Bearing Surfaces: The Good, Bad and Indifferent, Wednesday, February 25, 1:30 p.m.


Educational session: Revision in Total Hip Arthroplasty: Understanding and Management of Osteolysis, Thursday, February 26, 10:30 a.m.


Educational session: Worldwide Perspective on Hip Resurfacing, Thursday, February 26, 4 p.m.


Scientific session: Local Metal Reactions after Metal-Metal Hip Arthroplasty, Saturday, February 28, 8:29 a.m.

Dr. Howard An - Spine, Back and Neck
Educational session: Avoiding and Managing Complications in Cervical Spine Surgery, Wednesday, February 25, 10:30 a.m.

Dr. Bernard Bach - Sports Medicine
Scientific session: Instability: Bone Grafts and Complications - Normalization of Glenohumeral Articular Contact Pressures after Either Latarject or Iliac Crest Bone Grafting Procedure: Impact of Graft Type, Positions, and Coracoid Orientation, Saturday, February 28, 11:20 a.m.

Dr. Richard Berger - Joint Reconstruction
Educational session: Partial Arthroplasty of the Knee, Thursday, February 26, 8 a.m.


Podium presentation: Problems from Allowing Knee Replacement to be Discharged the Day of Surgery, Thursday, February 26, 12:06 p.m.


Educational session: MIS THA/TKA? Where Now, Where Next?, Friday, February 27, 4 p.m.

Dr. Charles Bush-Joseph - Sports Medicine, Knee, Shoulder and Hip
Scientific session: Revision ACL, Saturday, February 28, 8 a.m.


Podium presentation: Clinical outcome following hamstring over-the-top ACL reconstruction in skeletally immature patients, Wednesday, February 25, 5:12 p.m.

Dr. Brian Cole - Sports Medicine and Cartilage Restoration
Educational session: Arthroscopic Rotator Cuff repair: An Evolution of Techniques, Are Our Patients Really Benefiting?, Thursday, February 26, 4 p.m.


Educational session: Surgical Management of Articular Cartilage Defects of the Knee, Friday, February 27, 8 a.m.


Educational session: The Active Patient with GH Arthritis: How Do We Prevent It and How Do We Treat It?, Friday, February 27, 4 p.m.


Scientific session: Instability: Bone Grafts and Complications - The Presentation and Management of Post-Surgical Glenohumeral Chondrolysis in Young Adults, Saturday, February 28, 11:30 a.m.















Scientific session: Meniscal Injuries - "29881" Versus "29882": Where Are We?, Saturday, February 28,10 a.m.


Scientific session: Shoulder and Elbow Complications: The presentation and Management of Post-Surgical Glenohumeral Chondrolysis in Young Adults, Saturday, February 28, 2 p.m.


Scientific session: Meniscal Surgery Symposium - Spotlight Technique Video: Meniscal Transplantation, Saturday, February 28, 2 p.m.


Scientific session: Meniscal Surgery Symposium - Case Presentations and Panel Discussion, Saturday, February 28, 2:10 p.m.

Dr. Craig Della Valle - Joint Reconstruction
Educational session: Early Failures after Total Knee Arthroplasty: Strategies for Prevention, Wednesday, February 25, 1:30 p.m.
* Podium presentation: Cruciate-Retaining TKA Using a Four-Pegged Tibial Component: Minimum 10-Year Follow-up, Thursday, February 26, 8:48 a.m.


Podium presentation: A Prospective Randomized Trial of Mini Posterior and Two-Incision Total Hip Arthroplasty, Thursday, February 26, 11:24 a.m.


Educational session: Periprosthetic fractures Around Total Hip and Knee Replacement: A Problem on the Rise but Better Solutions, Thursday, February 26, 1:30 p.m.


Educational session: Revision Total Knee Arthroplasty: What the Practicing Orthopedic Surgeon Needs to Know, Friday, February 27, 8 a.m.

Dr. Gregory Nicholson - Shoulder and Elbow, Sports Medicine and Knee
Educational session: Shoulder Arthroplasty: What to Do, When and How, Wednesday, February 25, 10:30 a.m.


Educational session: Reverse Shoulder Arthroplasty, Thursday, February 26, 1:30 p.m.


Scientific session: Reverse Prosthesis: Recognizing and Treating Complications - Trabecular Metal Reverse Shoulder Arthroplasty and the Lack of Scapular Notching, Saturday, February 28, 1 p.m.


Scientific session: Technical Pearls to Improve Total Arthroplasty Results - Posterior Glenoid Bone Grafting in TSA for Posterior Glenoid Wear-Technique and Radiographic Outcome, Saturday, February 28, 3 p.m.

Dr. Wayne Paprosky - Hip and Knee Joint Reconstruction
Educational session: Complex Revision THA: An Advanced Course, Wednesday, February 25, 8 a.m.


Educational session: Bone Defects: When Are Ortho Biologics Indicated?, Friday, February 27, 10:30 a.m.


Educational session: How to do a Revision Total Hip Arthroplasty, Friday, February 27, 1:30 p.m.


Scientific session: Welcome address for the Hip Society/ American Association of Hip and Knee Surgeons, Saturday, February 28, 8 a.m.


Scientific session: Evolution of uncemented femoral fixation in Revision THA: Can we tailor prosthetic choice to each pattern of bone loss?, February 28, 10:15 a.m.

Dr. Frank Phillips - Spine, Back and Neck
Educational session: The Current State of Minimally Invasive Spine Surgery, Thursday, February 26, 1:30 p.m.

Dr. Anthony Romeo - Shoulder and Elbow, Sports Medicine
Educational session: Shoulder Arthroplasty: What to Do, When and How, Wednesday, February 25, 10:30 a.m.


Educational session: Challenging Problems in Shoulder Instability - How to Get It Right the First Time and What To Do If You Don't, Wednesday, February 25, 1:30 p.m.


Educational session: Arthroscopic Rotator Cuff repair: An Evolution of Techniques, Are Our Patients Really Benefiting?, Thursday, February 26, 4 p.m.


Scientific session: Shoulder and Elbow Complications: The presentation and Management of Post-Surgical Glenohumeral Chondrolysis in Young Adults, Saturday, February 28, 2 p.m.


Scientific session: Instability: Bone Grafts and Complications - Normalization of Glenohumeral Articular Contact Pressures after Either Latarject or Iliac Crest Bone Grafting Procedure: Impact of Graft Type, Positions, and Coracoid Orientation, Saturday, February 28, 11:20 a.m.


Scientific session: shoulder Instability Symposium, Saturday, February 28, 7:50 a.m.

Dr. Aaron Rosenberg - Joint Reconstruction
Educational session: Delivering Exceptional Care Experiences in Your Office and Hospital: Lessons Learned from Other Service Industries, Friday, February 27, 8 a.m.


Scientific session: Advances in Treatment of Previous Acetabular Fracture with Hip Arthroplasty, Saturday, February 28, 3:31 p.m.

Dr. Nikhil Verma - Sports Medicine, Knee, Elbow, and Shoulder
Scientific session: Rotator Cuff: Long-Term Outcome of Recurrent Defects After Rotator Cuff Repair, Saturday, February 28, 1:20 p.m.


Scientific session: Instability: Bone Grafts and Complications - Normalization of Glenohumeral Articular Contact Pressures after Either Latarject or Iliac Crest Bone Grafting Procedure: Impact of Graft Type, Positions, and Coracoid Orientation, Saturday, February 28, 11:20 a.m.





About Rush University Medical Center



Rush University Medical Center is an academic medical center that encompasses the more than 600 staffed-bed hospital (including Rush Children's Hospital), the Johnston R. Bowman Health Center and Rush University. Rush University, with more than 1,270 students, is home to one of the first medical schools in the Midwest, and one of the nation's top-ranked nursing colleges. Rush University also offers graduate programs in allied health and the basic sciences. Rush is noted for bringing together clinical care and research to address major health problems, including arthritis and orthopedic disorders, cancer, heart disease, mental illness, neurological disorders and diseases associated with aging.



Source: Deb Song


Rush University Medical Center

Surgeons Are "Overly Optimistic" in Predicting Results of Back Surgery

Surgeons predict at least moderate improvement for almost all patients undergoing back surgery, yet nearly 40 percent of
patients have little or no improvement one year after their operation, reports a study in the June 15 issue of the journal
Spine.


At least for some patients, the results suggest a "curabo effect," with physician expectations influencing treatment
outcomes.


Led by Dr. Bertrand Graz of University of Lausanne, Switzerland, the researchers analyzed 197 patients undergoing surgery for
low back pain or sciatica. Before the operation, surgeons were asked to predict how much the surgery would improve each
patient's quality of life. The surgeons predicted "a great deal of improvement" for 79 percent of patients and "moderate
improvement" for 20 percent.


However, patients were generally less satisfied than the surgeons had expected. Of patients whose surgeon predicted "a great
deal of improvement," 56 percent reported no significant improvement in their general health one year after surgery. Whereas
surgeons had predicted at least moderate improvement for 99 percent of patients, 39 percent achieved no "minimally clinically
important" difference.


In contrast, the surgeons' predictions were related to better outcomes for patients who were not necessarily appropriate
candidates for back surgery. Among patients whose surgery was deemed "inappropriate or equivocal"-based on strictly defined
criteria-higher surgeon expectations were linked to greater improvement on subjective measures of mental health and general
health.


The ability to make a correct individual prognosis is obviously important for doctors recommending any form of treatment,
especially surgery. Recent reports have suggested that surgeons predict the outcomes of surgery for sciatica as better than
they actually are.


The new study also suggests that surgeons tend to overestimate the benefits of surgery for low back pain and sciatica. On
average, patients do have significant improvement one year after back surgery; however, the overall impact on their lives may
not be as great as predicted by surgeons.


Ironically, the exception may be patients who don't meet strict criteria for back surgery. Dr. Graz and colleagues suggest
that this finding might be explained by a "curabo effect." As opposed to the well-known "placebo effect"-in which improvement
results from patients' confidence in treatment-the curabo effect is attributed to the doctor's confidence in his or her own
work. The curabo effect might be a kind of "self-fulfilling prophecy": physicians may invest more time and energy in their
work with a patient; patients may rate the final results higher when the physician has expressed higher expectations.



Other explanations are possible-in particular, surgeons may truly be able to predict which patients have a better than
average chance of cure, even if they're not "ideal" candidates for back surgery. Either way, it may be that physicians tend
to get the improvement they expect for some subjective outcomes, despite the fact that the treatment doesn't meet "objective"
criteria for appropriateness. "Physician expectation may have by itself an influence on patient outcome," the authors
conclude.


Lippincott Williams & Wilkins

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Philadelphia, PA 19106

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Enobia Announces Completion Of Enrollment In Third Phase II Hypophosphatasia Study Of ENB-0040, A Bone Targeted Enzyme Replacement Therapy

Enobia Pharma Inc., announced that it has successfully completed enrollment in its Phase II study of ENB-0040, a bone targeted enzyme replacement therapy being investigated in adolescents and adults with hypophosphatasia (HPP), a serious, rare metabolic bone disorder. Upon anticipated completion of the study later this year, Enobia will have collected safety and efficacy data for ENB-0040 in HPP patients of all ages. If approved, ENB-0040 would represent the first available therapy for patients with HPP.


In advance of next week's Rare Disease Day, Michael Whyte, MD, Professor of Medicine, Pediatrics and Genetics, and Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, and principal investigator for the ENB-0040 studies, will provide an update on this potential advance for patients with HPP at the Sanford-Burnham Medical Research Institute's second annual Rare Disease Symposium being held in San Diego, CA this Friday, February 25. The event will highlight ENB-0040 and several other new approaches to treating rare diseases, and will bring together scientists, patients, parents and disease advocates to discuss how they can work together to find cures for rare diseases.


Deborah Sittig, who founded Soft Bones: The U.S. Hypophosphatasia Foundation after her son was diagnosed with HPP, will participate in the event, facilitating a question & answer session with attendees and presenters.


Dr. Whyte's presentation will be webcast from 11:55 am - 12:25 pm PST; the question and answer session will immediately follow, at approximately 12:25 - 1:00 pm PST.


"We are delighted with the steady progress of our development program for ENB-0040, and remain committed to our ultimate goal of delivering a safe and effective therapy to address the significant unmet clinical needs of patients suffering with HPP," said Robert Heft, Ph.D., President and Chief Executive Officer of Enobia. "All of Enobia is privileged to contribute to the development of treatments for rare metabolic bone disorders. We take this opportunity on Rare Disease Day to highlight the need for sustained research to ensure that rare diseases, and the patients and their families impacted by them, receive the attention and therapies they deserve."


About Rare Disease Day


Next Monday, February 28, will mark the fourth International Rare Disease Day coordinated by European Organization for Rare Diseases (EURORDIS) and organized with rare disease national alliances in 25 countries around the world, including the National Organization for Rare Diseases (NORD) in the U.S. Rare Disease Day aims to raise awareness of the approximately 6,000 - 8,000 known rare diseases, or those diseases which affect fewer than 200,000 people. It is estimated that 30 million Americans are affected by a rare disease, with millions more impacted around the world. For most rare diseases, there are limited to no treatment options available.


About ENB-0040


There are currently no therapies approved for HPP, a rare genetic disease characterized primarily by defective bone mineralization caused by a deficiency in the enzyme tissue non-specific alkaline phosphatase (TNSALP). ENB-0040 (asfotase alfa), an investigational treatment for HPP, is a subcutaneous enzyme replacement therapy of TNSALP fused to a bone targeting peptide. ENB-0040 is designed to directly target TNSALP to the bone in order to correct the enzyme deficiency, which could lead to restoration of normal bone mineralization. ENB-0040, awarded orphan designation in the U.S. and EU in 2008 and Fast Track status in 2009, is currently in Phase 2b clinical development.


In January, Enobia announced that its Phase II study of ENB-0040 in juveniles with HPP met its primary endpoint, demonstrating a statistically significant improvement in rickets when compared with historical matched cohort controls (p=0.002). Those results build on the successful completion of an earlier trial in infants, in which participants continue to demonstrate functional and respiratory improvements in longer-term follow-up.


About the Adolescent and Adult Phase II Study


The Phase II randomized, open-label, multicenter, multinational, dose-ranging, concurrent control study will evaluate the safety and efficacy of ENB-0040 in adolescents and adults with HPP. The study is expected to be completed in the second half of this year.


Source: Enobia Pharma Inc

Foot Injuries Plague Athletes During Fall Sports Season

With the 2008-09 football season still in its fledgling stages, storylines for many teams in the spotlight have evolved from the typical 'who to watch' to 'who's gone down now?' Chris 'Beanie' Wells, starting running back for the Ohio State University Buckeyes, continues to recuperate from a right toe injury suffered almost two weeks ago. National Football League (NFL) running back LaDainian Tomlinson, star of the San Diego Chargers, also limped from his team's opening game with a foot injury recently - which he quickly brushed off as 'turf toe.' But how many athletes in fall sports, like football, take these types of injuries too lightly?



According to the American Podiatric Medical Association (APMA), both professional and amateur athletes are at an extremely high risk for injuring their lower limbs during play. Whether performing hairpin turns on artificial turf or taking part in a powerful, high-speed collision with other players, foot and ankle injury risks for athletes run rampant - and participating in a favorite sport should always involve playing it safe.


" Stress fractures of the foot, ankle sprains and ligament injuries are all, unfortunately, quite common in popular fall sports such as football," said Dr. David Davidson, APMA member and podiatric medical consultant for the Buffalo Bills of the NFL. "From maintaining proper conditioning to wearing sport-specific footwear, athletes can function at peak performance much more often when constantly maintaining high levels of footcare safety."


The following are some of the most common acute injuries in fall sports, as well as treatments and preventative tips recommended by the APMA:


- Sprains - Hard sprinting often leads to stretched or torn ligaments, also known as sprains. Severe sprains may also cause ankle swelling, much like a fracture.


Treatment - Sprains that don't show improvement in three days should be seen by a podiatric physician immediately. Possible casting, immobilization and a rehabilitation regimen may all be prescribed.


Tips to Avoid Them - Take part in proper warm-up exercises before and after home workouts, practice and games. Spend five to 10 minutes stretching, holding and relaxing muscles.


- Fractures - Fractures occur when a bone has been broken.


Treatment - Casting, and sometimes even surgery performed by a podiatric surgeon, is required to properly immobilize fractures and set breaks. Ten to 12 weeks are usually required for rehabilitation.


Tips to Avoid Them - Look for sport-specific footwear that contains extra padding in cleated shoes, which helps to prevent stress fractures - incomplete fractures in bones are typically caused by overuse.


- Turf Toe - Named for the playing field on which it is common, turf toe is a painful hyperextension of the big toe joint. While competing on artificial turf is the leading cause of this condition, it can also occur on natural surfaces such as grass.


Treatment - Turf toe treatment usually includes the 'RICE' regimen, which stands for Rest, Ice, Compression and Elevation.
Tips to Avoid It - Wearing a stiffer shoe can prevent aggravating this injury further. Customized foot orthotics may also be worn during play to protect against turf toe.


For more information about sports-related injuries to the foot and ankle, visit apma/sports.


Founded in 1912, the American Podiatric Medical Association is the nation's leading professional society for foot and ankle specialists. The association has component societies in 53 locations in the U.S. and its territories and a membership of close to 11,500 doctors of podiatric medicine.

American Podiatric Medical Association

Cutting-Edge Surgery for Tennis Elbow, Traditional Treatment Lacking

Surgeons at Mount Sinai Medical Center have found that less cutting is more beneficial to patients undergoing
arthroscopic repair for lateral epicondylitis, also called 'tennis elbow.' Michael Hausman, MD, and researchers from the
Department of Orthopedics at Mount Sinai School of Medicine are presenting findings from a clinical study at the Annual
Meeting of the American Academy of Orthopedic Surgeons (AAOS), February 23-27, 2005, in Washington, DC.


Dr. Hausman and colleagues examined 30 patients who underwent the traditional method to repair tennis elbow. This method is
performed by cutting the main tendon, removing surrounding scar tissue and reconnecting the severed tendon. The new method
perfected by Dr. Hausman does not involve cutting the tendon. This method is technically more difficult, but patients have a
faster return to daily activities.


Dr. Hausman will be available for interviews via phone at the AAOS meeting and immediately upon his return.


The Mount Sinai Medical Center


The Mount Sinai Medical Center encompasses The Mount Sinai Hospital and Mount Sinai School of Medicine. The Mount Sinai
Hospital is one of the nation's oldest, largest and most-respected voluntary hospitals. Founded in 1852, Mount Sinai today is
a 1,171-bed tertiary-care teaching facility that is internationally acclaimed for excellence in clinical care. Last year,
nearly 48,000 people were treated at Mount Sinai as inpatients, more than 72,000 received care in the emergency department,
and the outpatient department recorded nearly 470,000 visits. Mount Sinai School of Medicine is internationally recognized as
a leader in groundbreaking clinical and basic-science research, as well as innovative approaches to medical education. Mount
Sinai ranks 9th among the nation's 125 medical schools in the percentage of graduates who go on to faculty positions in
medical schools across the country. Mount Sinai also is in the top 25 in receipt of National Institutes of Health (NIH)
grants with a total of more than $154 million during Fiscal Year 2003. Information about Mount Sinai can be found online at:
mountsinai and mssm

Osteoporosis-linked Fractures Have Risen Dramatically

The hospitalization rate of patients admitted for treatment of hip, pelvis and other fractures associated with osteoporosis increased by 55 percent between 1995 and 2006, according to the latest News and Numbers from the Agency for Healthcare Research and Quality.


An estimated 10 million Americans suffer from osteoporosis, which causes bones to become brittle and weak. Fractures associated with osteoporosis can be slow to heal, and they also can cause debilitating pain, disability, deformities and occasionally death.


The federal agency's study also found that fractures associated with osteoporosis:


- Accounted for one-fourth of the roughly 1 million hospitalizations in 2006 of patients with osteoporosis.

- Cost hospitals $2.4 billion in 2006.

- Caused women to be six times more likely to be hospitalized than men.

- Involved mostly older patients: 90 percent of hospitalizations were for age 65 and older and 37 percent for patients age 85 and older.

- Were highest in the Midwest (107 per 100,000 people) and lowest in the West (68 per 100,000 people).


This AHRQ News and Numbers is based on data in U.S. Hospitalizations Involving Osteoporosis and Injury, 2006 (hcup-us.ahrq/reports/statbriefs/sb76.pdf). The report uses statistics from the 2006 Nationwide Inpatient Sample, a database of hospital inpatient stays that is nationally representative of inpatient stays in all short-term, non-Federal hospitals. The data are drawn from hospitals that comprise 90 percent of all discharges in the United States and include all patients, regardless of insurance type, as well as the uninsured. The report also uses statistics from a special disparities analysis file created from the Healthcare Cost and Utilization Project 2006 State Inpatient Databases.


Editor's Note: For more information about osteoporosis, see Osteoporosis Treatments that Help Prevent Broken Bones: A Guide for Women after Menopause.

Source
AHRQ