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The American Association of Multiple Enchondroma Diseases Welcomes You to Our Site!
Founded by Susan Challen in 1998, incorporated in 2002 as a not-for-profit corporation and registered as a tax exempt organization with the US Internal Revenue Service, AAMED is comprised of individuals with Ollier's disease, Maffucci's syndrome, enchondromatosis, their families, and physicians.
AAMED is THE source for news and information about bone tumor diseases, research and services for adults and children with Enchondromatosis, Multiple Enchondroma, Ollier's disease, Maffucci's syndrome, and their families.
On this site, you'll find links to our quarterly newsletters, message board, pen-pal program for children, latest research information, and much more. We invite interested persons to become part of group. Click on the membership link for more information on joining us. 
Disclaimer This site contains general information only and does not constitute specific advice. AAMED makes no claims, promises, or guarantees about the absolute accuracy, completeness, or adequacy of the contents of this website and expressly disclaims liability for errors and omissions in the contents of this website.The use of the information provided on the site is the sole responsibility of the user. AAMED initially reviews links to other sites but is unable to control changes to these sites or the sites they link to after review. Therefore, AAMED disclaims all liability for anything contained on, or accessed via, this site. AAMED does not take responsibility for the accuracy of the information contained on linked sites and does not necessarily endorse the views expressed on those sites. AAMED will do its best to ensure that this site is virus-free but cannot accept any responsibility for damage suffered as a result of any virus transmitted through visiting this site or any linked site. All images and information on all pages on AAMED.net are thought to be public domain and if they are not public domain they are copyrighted to their respective owners. This site contains information of a medical nature. We recommend children (under 13 years old) be supervised by a parent or caretaker. While many find the information and experiences that we share helpful, they are in no way a substitute for professional medical care. We do not, as an organization, support or endorse any particular treatment, therapy, or medication.
AAMED does not engage in the practice of medicine. In all cases we recommend that you consult your own physician regarding any course of treatment or medicine. |
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OUR ACTIVITIES
- participation in research projects to find treatments and a cure for these diseases
- helping families cope with the physical/psychological burdens imposed by the disease
- we provide a forum for patients and families to express their concerns and experiences
- connect individuals with common symptoms and backgrounds
- we continuously update a data base of physicians and hospitals with Ollier/Maffucci expertise
- Videos on limb lengthening and the use of the Ilizarov fixator
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 | Acute myelogenous leukemia associated with Ollier disease. |
 White MS, Martin PL, McLean TW. Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. Ollier disease is a rare disorder characterized by the presence of multiple enchondromas and a propensity to develop malignancies. We report the case of a 7-year-old Caucasian male with Ollier disease who developed acute myelogenous leukemia (AML). This report describes a patient with Ollier disease and AML and may offer a clue into the genetic pathogenesis of these disorders. (c) 2007 Wiley-Liss, Inc. PMID: 16991136
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Posted by admin on Saturday, April 12 @ 15:31:51 CDT (93 reads)
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Pediatr Blood Cancer. 2008 Mar;50(3):645-6. Acute myelogenous leukemia associated with Ollier's Disease Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. Ollier disease is a rare disorder characterized by the presence of multiple enchondromas and a propensity to develop malignancies. We report the case of a 7-year-old Caucasian male with Ollier disease who developed acute myelogenous leukemia (AML). This report describes a patient with Ollier disease and AML and may offer a clue into the genetic pathogenesis of these disorders. (c) 2007 Wiley-Liss, Inc.
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Posted by admin on Saturday, April 12 @ 15:14:31 CDT (88 reads)
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| The ISKD Limb Lengthening |
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The ISKD or Intramedullary Skeletal Kinetic Distractor is a fairly new limb lengthening device. It involves the use of an internal distractor for the purpose of lengthening limbs.
My daughter, Cindy is scheduled to have surgery on September 28th, 2007 and will be having the ISKD in both her femur and her tibia. She currently has approx 3.5 inches descrepancy of leg length. Because her growth plates have fused, this will be the only lengthening procedure she should ever need.
There are many advantages to using the ISKD as opposed to other lengthening procedures such as Ilizarov. Some of the benefits are lack of external pins that have potential for infection and scarring. It is said that the procedure also has less pain. Angular correction can often be accomplished in this same process.
Cindy's surgery is being performed in Orlando, FL by the doctor who invented the ISKD device, Dr. J. Dean Cole. Cindy is looking forward to her surgery that will not only correct her leg length, but will also eliminate the back, knee and hip pain that has plagued her for the last several years.
Below is a summary of information regarding the ISKD. I have also included links to websites for ISKD and Dr. Cole as well as doctors who are also using the ISKD for limb lengthening.
http://www.iskd.com/
ISKD website
http://www.iskd.com/PDF/ISKD_patientInfoPrint.pdf
ISKD Brochure
Dr. Dean Cole
1 N. Orange Avenue
Suite 340
Orlando, FL 32804
407-895-8890
http://www.fracturecarecenter.com
Dr. Dror Paley
The International Center for Limb Lengthening
Sinai Hospital of Baltimore
2401 West Belvedere Avenue
Baltimore, MD 21215
UNITED STATES
410-601-4200
Dr. Shawn Standard
2401 West Belvedere Avenue
Baltimore, MD 21215
UNITED STATES
410-601-9570
Dr. Janet Conway
2401 West Belvedere Avenue
Baltimore, MD 21215
UNITED STATES
410-601-9573
Dr. John Herzenberg
2401 West Belvedere Avenue
Baltimore, MD 21215
UNITED STATES
410-601-9562
Dr. Jeff Kanel
2512 Samaritan Ct.
Suite K
San Jose, CA 95124
408-358-5156
Jennette L. Boakes, MD
Shriners Hospitals for Children
Pediatric Orthopaedic Surgeon - Limb Deformity and Reconstruction
2425 Stockton Blvd.
Sacramento, CA 95817
916-453-2191
Dr. Robert Rozbruch
Institute for Limb Lengthening & Reconstruction Hospital for Special Surgery
535 East 70th Street
New York, NY 10021
212-606-1415
http://www.LimbLengthening.com
Dr. Chris Coetzee
Department of Orthopaedic Surgery University of Minnesota
420 Delaware Street SE
Minneapolis, MN 55455
612-625-1177
Dr. Joseph Davey
1940 North East 13th Street
#2000 Oklahoma City
Oklahoma City , OK
405-271-5900
The history of limb lengthening began in the 19th century with surgeons who were dedicated to overcoming the issues of limb discrepancies and of short height. Limb lengthening science did not flourish however, until the 20th century, when Siberian surgeon G.Ilizarov discovered the phenomenon of distraction osteogenesis – the ability of bone to regenerate - to grow to fill a void created by trauma or surgery. Ilizarov invented an external fixation device for lengthening and changed lives of untold thousands of patients.
Parallel to the development of external fixation, internal fixation methods were investigated and implemented into clinical practice for the treatment of bone fractures. In 1939, German surgeon Gerhard Kuntscher performed the first surgery using an intramedullary nail. An intramedullary nail is a one piece rod that is inserted into the hollow canal of a bone to provide stabilization.
Internal fixation methods used for fractures were also applied to limb lengthening, and a new the generation of intramedullary nails and intramedullary lengthening devices came into practice. Some internal devices were able to reduce scarring, reduce pain and reduce the risk of neurovascular damage. In addition, the internal devices were often more comfortable to the patient in other aspects of everyday life.
The ISKD intramedullary lengthener is the most advanced internal lengthener to date. The ISKD works in synergy with the body’s natural bone healing process to achieve lengthening. It is designed to lengthen for a predetermined distance, and then stop. During the last three years more than 250 patients have been treated using this device with great success. Many of these patients have lengthened with minimal or minimized pain, and with a low risk of infection. They have not experienced unwanted attention while in public, and have enjoyed the ability to sleep in a normal fashion.
The ISKD has been shown to advance the surgical method of limb lengthening, the lengthening mechanism, the monitoring of bone growth, and the patient’s quality of life.
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Posted by admin on Thursday, September 20 @ 12:43:45 CDT (573 reads)
(Read More... | 113 comments | Score: 5)
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| RESEARCH!!! |
The Eurobonet
The EuroBoNeT project is a collaboration of the worlds’ greatest scientific minds concerning bone tumors (particularly enchondromas, exostoses, chondrosarcoma and osteosarcoma). Thanks to the efforts of our Research Coordinator, Sarah Ziegler and our Director of Research, Susan Challen, The American Association of Multiple Enchondroma Diseases is a participant of this very important research. Below are excerpts from the EuroBoNeT website: http://www.eurobonet.eu/ which we hope you will find both informative and encouraging. However, without YOUR help this research will be greatly hindered. We are in desperate need of enchondroma samples. These samples can be taken during surgeries that are already planned. Please help us help these brilliant scientists continue their work towards a cure for OUR diseases. For more information regarding tumor sample donations please contact: Susan Challen at: aameddirector@aol.com or call her at (941) 492-5117
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Primary bone tumours are rare, accounting ~0.2% of the cancer burden.
Children and young adolescents are frequently affected.
Their aggressiveness has major impact on morbidity and mortality.
Though progress has been made in pathological and genetic typing, the aetiology is largely unknown. Though advances in therapeutic approaches increased survival, significant numbers of patients (~40%) still die.
Within the EuroBoNeT integration will be achieved by staff exchange and website-based discussion forums to increase and disseminate knowledge of primary bone tumours at the molecular level for development of new tools for patient care and cure and technology.
With this integration exchange of material (virtual BioBank), Standard Operating Protocols and the use of technology platforms will enable us to obtain statistical significant datasets, otherwise not achievable due to the rareness and large number of sub entities. A joint programme will contribute in obtaining molecular portraits of tumours, separated in 4 research lines (RL).
In each RL the biology of the separate group (RL1: cartilaginous tumours; RL2: osteogenic tumours and related sarcomas; RL3: osteoclastogenesis and Giant cell tumours of bone; and RL4: Ewing family of tumours) will be examined by genome wide expression and genomic aberration studies. More specific hypothesis driven approaches will be investigated by RNA/protein expression and mutation analysis. Knowledge on normal growth and differentiation will be gathered through in vitro studies. This would lead to further understanding and identification of markers for malignant transformation and/or progression, as well as identification of therapeutic targets.
Next to research, dissemination of knowledge will be achieved by training courses on bone and soft tissue pathology for all interested. The last is required since patients usually do not present themselves at centres, which necessitates spreading of knowledge.
Jointly executed activities
Research line 1: Cartilaginous tumours
Chondrosarcomas are the second most frequent bone sarcomas after osteosarcomas. A number (peripheral chondrosarcomas) arise secondarily within a preexisting benign osteochondroma, a tumour that develops at young age during active skeletal growth. The remainder is centrally located of which a subset arises within the context of enchondromatosis, a disabling disease in which patients have multiple enchondromas with a unilateral predominance. These patients are relatively young and have an increased risk (2030%) of malignant transformation towards central chondrosarcoma. If we can understand the molecular background of malignant transformation of enchondroma and osteochondroma this may lead to identification of new diagnostic and prognostic tools as well as molecular targets for therapy, since so far surgery is the only option. The 2002 WHO definition states that "the term chondrosarcoma is used to describe a heterogeneous group of lesions with diverse morphologic features and clinical behaviour"2. This phrase points exactly to the problem in chondrosarcoma research in the past. The investigations have been hampered by the inclusion of heterogeneous groups involving all different subtypes, making the identification of new diagnostic and prognostic tools as well as molecular targets for therapy extremely difficult.
Integrating activities for RL 1:
· Consensus on sub classification
Especially for chondrosarcoma it is important to carefully characterize and subdivide cases based on clinical, radiological and pathological criteria. Criteria will be based on the 2002 WHO classification3 and will be discussed and agreed upon during the first EuroBoNeT meeting in order for each contributor having the same well defined and homogeneous groups (Central vs. peripheral, Grade I, II and III, sporadic vs. enchondromatosis (central) or EXT (multiple osteochondromas) related tumours) allowing comparison of results (WP1.1). Of the different subtypes we will try to collect at least 10 specimens for research although this may not be feasible for the very rare cases, such as for instance Enchondromatosis samples.
The EuroBoNeT consortium is supported by:
The HME collation
MHE research foundation
Chondrosarcoma care
The American Association of Multiple Enchondroma Diseases
For More Information regarding our Particpation in this VERY IMPORTANT research, you can click on the link below.
http://www.eurobonet.eu/pro_Participants.html
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Posted by admin on Sunday, July 01 @ 09:45:02 CDT (458 reads)
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| The Latest Research Project is Now Open |
The world’s largest human research study ever conducted on Multiple Enchondroma Diseases is now open for participation.
Identification and characterization of genes and molecular mechanisms causing Multiple Enchondroma Diseases and related bone disorders. Clinical and molecular study of factors implicated in Multiple Enchondroma Diseases.
The American Association of Multiple Enchondroma Diseases and the Researchers working on this project need your help! Tumor samples are needed…if you are scheduled for surgery, please let us know.
It does not cost you anything to participate. If your medical care indicates the need to have bone tissue (tumor) removed, we would obtain tumor / blood samples taken during this surgery and they are then sent to our researcher’s laboratory for study. Tissue (tumor) samples are taken during a surgery you are already scheduled to have. You will not be required to have any additional surgery.
Also, please complete the on-line clinical questionnaire, patient data is an important part of this research.
It is only by the collection of large numbers of samples and data that major progress can be made in human study of Multiple Enchondroma Diseases.
With the assistance of a large network of Institutions cooperating with our organization this problem is being addressed and by pooling these samples, construction of a tissue bank and data of Multiple Enchondroma Patients can begin.
You are a very important part of this approach and your help is greatly needed. There has been major problem in human studies up until now. This is mainly due to the low number of available samples in previous studies.
This research project depends on getting samples & data from people with Ollier’s Disease, Maffucci’s Syndrome and other related Multiple Enchondroma Diseases that visit this website. This approach will help greatly in achieving a much better understanding of Multiple Enchondroma Diseases and research can now move forward in a more comprehensive direction.
The American Association of Multiple Enchondroma Diseases will be collaborating on this new research project with the following researchers listed below. These researchers are partners of the EuroBoneT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumors. The researchers heading up this project are being assisted by other researchers in this field. Our researchers are also in contact with researchers using animal models to study Multiple Enchondroma Diseases and we feel that even larger gains will be made in the future.
All study information is coded and personal identifiers are removed.Our organization gives full detailed disclosure, including signed agreements between this organization and researchers. We also give the full background information of these researchers. We believe you should know where and how this data is being used. This organization will never simply request participation without full and detailed information. Please click on our “News and Research” button located at the top of this page. Scroll down to “Meet Our Researchers”. Click on that to view detailed information about the researchers involved in this research project.
One question many people have is, Why Belgium and Italy? The answer in short is because most labs do not invest in laborious and expensive techniques to identify mutations which are not found by standard mutation analysis. Funding is also a key issue, human genetics study into Multiple Enchondroma Diseases is not being funded by the National Institute of Health, hence the vast amount of this type of research is not done in the United States.
The Principle Researchers of this project are:
Wim Wyuts, PH.D. Principle Researcher
Supervisor DNA Diagnostics,
Department of Medical Genetics University
and University Hospital of Antwerp, Belgium
Luca Sangiorgi, M.D., PH.D. Principle Researcher
Head of the Genetics Unit, Lab Oncology Research,
Coordinator, Rare Skeletal Diseases,
Rizzoli Orthopaedic Institute, Bologna, Italy
Medical Advisory Board Member, The American Association of Multiple Enchondroma Diseases, United States
Coordinator Virtual Lab of Bioinformatics for Genetics and Biotech (Gebba-Lab)
Both of these researchers serve as advisors to family support groups in their countries and also serve on the Scientific and Medical Board of this organization. They both understand and are deeply concerned about quality of life issues for people afflicted with Multiple Enchondroma Diseases.
The American Association of Multiple Enchondroma Diseases is in a uniquely qualified position of being able to help bring research forward and address quality of life issues with our researchers. Working directly with researchers allows us to give insight into secondary symptoms that have been over-looked in many clinical settings. Just as importantly, having direct contact with so many people living with a Multiple Enchondroma Diseases enables us to help address quality of life issues in research settings as well.
This is a well balanced comprehensive research approach and, the first of its kind. It is this organization’s hope that by giving detailed information about this research project to persons reading this website, it will lead people with a Multiple Enchondroma Disease to participate in Multiple Enchondroma Disease Research. By bringing both the Multiple Enchondroma Disease community and the Orthopaedic community together, the numbers of samples and data will add up and ultimately make this research bear more fruit in the future.
This project concentrates on the molecular aspects of Multiple Enchondroma Diseases. Tumor and blood samples and data of Multiple Enchondroma Disease patients are collected and studied to see how they differ from samples from healthy individuals. This may provide valuable information on the mechanisms of enchondroma and chondrosarcoma development and may give us more insight in factors leading to the clinical variability.
To participate in this very important research project please click on the "News and Research" button located at the top of this page. Scroll to "Research Participation" and click on that. This will take you to our "Research Registry" page. You can also find the links to the "Questionnaire Page". If you have considered participating in research projects in the past but were unable to participate for any reason, this would be an ideal time to register for participation. It is only with your help that research into these diseases can move forward and gain momentum!
For further information please contact
Susan Challen
National Director of Research
The American Association of Multiple
Enchondroma Diseases
AAMEDDirector@aol.com
or
Sarah Ziegler
Executive Director of the National Ollier's
Research Registry
sarahziegler@mheresearchfoundation.org /
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Posted by admin on Sunday, January 28 @ 22:01:07 CST (659 reads)
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| Cartilage tumours of the bone. Diagnosis and therapy |
Orthopade. 2006 Aug;35(8):871-81
Streitbuerger A, Hardes J, Gebert C, Ahrens H, Winkelmann W, Gosheger G. Klinik und Poliklinik fur allgemeine Orthopadie, Universitatsklinikum Munster, Albert-Schweitzer-Strasse 33, 48149 Munster. streitb@uni-muenster.de
Primary malignant bone tumours are rare. The annual incidence of these tumours is 10 per 1 million. Nearly 30% of the primary malignant bone tumours are malignant cartilage tumours. The frequency of benign cartilage tumours cannot be definitely estimated because these tumours are normally clinically inapparent and therefore often diagnosed as an incidental finding. The cartilage tumours appear as benign lesions (e.g. chondroma), as borderline tumours (proliferative chondroma vs grade I chondrosarcoma) or as highly malignant chondrosarcoma (e.g. dedifferentiated chondrosarcoma). Commensurate with the different clinical and oncological manifestations of the cartilage tumours, there are wide differences in the treatment and clinical course of the individual tumour.
PMID: 16865383
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Posted by admin on Friday, December 15 @ 08:46:51 CST (805 reads)
(Read More... | 117 comments | Score: 5)
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| Research Project! |
WE NEED YOUR BLOOD
As the National Director of Research for The American Association of Multiple Enchondroma Diseases I am requesting your assistance regarding research for Ollier’s disease, Maffucci’s syndrome, chondrosarcoma and associated diseases.
At this time we have been asked to participate in a specific research project. The scientists we are working with are interested in obtaining DNA from blood samples, to try to determine the reason for the high proportion of brain tumor, ovarian cancer and chondrosarcoma in patients afflicted with multiple enchondroma diseases. It is possible that the results of this research could lead to preventative and/or curative treatment for these cancers.
If you/your child are willing to participate in this very important research, please contact me. Participation will be in the form of a donation of a blood sample (10 milliliters, or 2 teaspoons’ worth).
AAMED will provide both assistance & support to participating families throughout the entire process. AAMED will also make the necessary arrangements with your physician, and provide you and your physician with all legally required paperwork and consent forms.
I would be happy to discuss these research studies with you at your convenience and can be contacted at the phone number and/or email address printed below.
Susan Challen, National Director and Coordinator of Research The American Association of Multiple Enchondroma Diseases
357 Redwood Road Venice, FL 34293
Tel: (941) 492-5117
Email: AAMEDDirector@aol.com
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Posted by admin on Wednesday, May 03 @ 13:24:14 CDT (827 reads)
(Read More... | 121 comments | Score: 0)
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| Ollier disease resembles solitary tumours and alteration in genes coding |
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cDNA expression profiling of chondrosarcomas: Ollier disease resembles solitary tumours and alteration in genes coding for components of energy metabolism occurs with increasing grade.
Rozeman LB, Hameetman L, van Wezel T, Taminiau AH, Cleton-Jansen AM, Hogendoorn PC, Bovee JV.
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Conventional central chondrosarcomas are malignant cartilaginous tumours, occasionally arising secondary to either solitary or multiple (Ollier disease) enchondromas. Recurrences may have progressed in grade. The aims of the present study were to identify putative differences in gene expression between solitary and Ollier disease-related tumours, and to elucidate signalling pathways involved in tumour progression by genome-wide cDNA expression analysis. Arrays enriched for cartilage-specific cDNAs and genes involved in general tumourigenesis were used to analyse enchondromas (n = 3, two with Ollier disease), chondrosarcomas of different grades (n = 19, three with Ollier disease), normal resting-zone cartilage (n = 2), and chondrosarcoma cells in culture (n = 7). The arrays were analysed by unsupervised hierarchical clustering, significant analysis of microarray, and T-tests. Confirmation of data was performed by immunohistochemistry and quantitative reverse transcriptase polymerase chain reaction (RT-PCR). Ollier disease cases and solitary tumours revealed similar expression profiles, suggesting that the same signalling pathways are involved in tumourigenesis. Interestingly, JunB protein expression was significantly higher in grade I chondrosarcomas than in enchondromas (p = 0.009), which could be of diagnostic relevance. Upon chondrosarcoma progression, matrix-associated genes are down-regulated, reflecting the histology of high-grade tumours. An increase in glycolysis-associated, and a decrease in oxidative phosphorylation-related, genes was found in high-grade tumours. These findings suggest an adaptation in energy supply upon progression towards higher grade. Copyright (c) 2005 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
PMID: 16007578
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Posted by admin on Friday, April 28 @ 10:58:00 CDT (885 reads)
(Read More... | 117 comments | Score: 0)
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