Медицинские аспекты современного состояния практики лечения прогрессирующей оссифицирующей фибродисплазии



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K. ACVR1/ALK2: выбор объектов-мишеней для проведения терапии

Cuny GD, Yu PB, Laha JK, Xing X, Liu J-F, Lai CS, Deng DY, Sachidanandan C, Bloch KD, Peterson RT. Structure-activity relationship study of bone morphogenetic protein (КМГП) signaling inhibitors. Bioorganic & Medicinal Chemistry Letters, 18: 4388-4392, 2008

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Fukada T, Kohda M, Kanomata K, Nojima J, Kamizono J, Oda H, Nakayama K, Ohtake A, Miyazono K, Jimi E, Owan I, Okazaki Y, Katagiri T. A constitutively activated КМГП receptor, ALK2, induces heterotopic bone formation in patients with fibrodysplasia ossificans progressiva. J Bone Miner Res 22 (suppl. 1); S10, 2007



Kaplan FS. The key to the closet is the key to the kingdom: a common lesson of rare diseases. Orphan Disease Update 24(3): 1-9, 2006

Kaplan FS, Glaser DL, Pignolo RJ, Shore EM. A new era for fibrodysplasia ossificans progressiva: a druggable target for the second skeleton. Expert Opin Biol Ther 7: 705-712, 2007

Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby R, Kitterman JA, Groppe J, Shore EM. Fibrodysplasia ossificans progressiva (ПОФ). Best Practice & Research – Clinical Rheumatology 22: 191-205, 2008

Kaplan FS, Pignolo R, Glaser DL, Shore EM. The Seventeenth Annual ПОФ Collaborative Research Report. www.iFOPa.org

Roush W. Protein builds second skeleton. Science 273: 1170, 1996

Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho T-J, Choi IH, Connor JM, Delai P, Glaser DL, Le Merrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS. A recurrent mutation in the КМГП type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics 38: 525-527, 2006

Shen Q, Xu M, Little SC, Kaplan FS, Mullins MC, Shore EM. Activation of КМГП signaling by the FOP ACVR1 R206H mutation. J Bone Miner Res 22 (suppl. 1); S43, 2007

Yu PB, Hong CC, Sachidanandan C, Babitt JL. Dong DY, Hoyng SA, Lin HY, Bloch KD, Peterson RT. Dorsomorphin inhibits КМГП signals required for embryogenesis and iron metabolism. Nat Chem Biol 4: 33-41, 2008

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III. ЧАСТНЫЕ СЛУЧАИ МЕДИЦИНСКОЙ ПРАКТИКИ
A. Ведение

Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby R, Kitterman JA, Groppe J, Shore EM. Fibrodysplasia ossificans progressiva (ПОФ). Best Practice & Research – Clinical Rheumatology 22: 191-205, 2008



B. Предупреждение травм

Glaser DL, Rocke DM, Kaplan FS. Catastrophic falls in patients who have fibrodysplasia ossificans progressiva. Clin Orthop 346: 110-116, 1998

Lanchoney TF, Cohen RB, Rocke DM, Zasloff MA, Kaplan FS. Permanent heterotopic ossification at the injection site after diphtheria-tetanus-pertussis immunizations in children who have fibrodysplasia ossificans progressiva. J Pediatrics 126: 762-764, 1995

Luchetti W, Cohen RB, Hahn GV, Rocke DM, Helpin M, Zasloff M, Kaplan FS. Severe restriction in jaw movement after route injection of local anesthetic in patients who have fibrodysplasia ossificans progressiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81: 21-25, 1996



C. Деформация позвоночника при ПОФ

Moore R, Dormans J, Shore EM, Kaplan FS, Auerbach J. Progressive chin-on-chest deformity in patients who have fibrodysplasia ossificans progressiva (ПОФ). J Bone Joint Surg Am (in press), 2008

Shah P, Zasloff MA, Drummond, D, Kaplan FS. Spinal deformity in patients who have ПОФ. J Bone Joint Surg Am 76: 1442-1450, 1994

D. Cardiopulmonary Function in ПОФ

Kaplan FS, Glaser DL. Thoracic insufficiency syndrome in patients with fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 213-216, 2005

Kussmaul WG, Esmail AN, Sagar Y, Ross J, Gregory S, Kaplan FS. Pulmonary and cardiac function in advanced fibrodysplasia ossificans progressiva. Clin Orthop 346: 104-109, 1998



E. Грипп и ПОФ

Belshe RB, Newman FK, Cannon J, Duane C, Treanor J, Van Hoecke C, Howe BJ, Dubin G. Serum antibody responses after intradermal vaccination against influenza. New Engl J Med 351:2286-2294, 2004

Belshe RB, Edwards KM, Vesikari T, Black SV, Walker RE, Hultquist M, Kemble G, Connor EM. CAIV-T Comparative Efficacy Study Group. Live attenuated versus inactivated influenza vaccine in infants and young children. N Engl J Med 356: 685-696, 2007

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Cooper CL, Davis H, Cameron DW. Influenza vaccination with 1/10th the full dose. New Engl J Med 351: 2339-2340, 2004



Halperin W, Weiss WI, Altman R, et al. A comparison of the intradermal and subcutaneous routes of influenza vaccination with A/New Jersey/76 (swine flu) and A/Victoria/75: report of a study and review of the literature. Am J Public Health 69: 1247-1250, 1979

Kenney RT, Frech SA, Muenz LR, Villar CP, Glenn GM. Dose sparing with intradermal injection of influenza vaccine. New Engl J Med 351: 2295-2301, 2004

La Montagne JR & Fauci AS. Intradermal influenza vaccination – can less be more? New Engl J Med 351: 2330-2332, 2004

Moscona A. Neuraminidase inhibitors for influenza. N Engl J Med 353: 1363-1373, 2005

Pearson H. Diluted flu vaccine works well. news@nature.com. Published online November 4, 2004

Scarlett RF, Rocke DM, Kantanie S, Patel JB, Shore EM, Kaplan FS. Influenza-like viral illnesses and flareups of fibrodysplasia ossificans progressiva. Clin Orthop 423:275-279, 2004



F. Отеки конечностей и ПОФ

Moriatis JM, Gannon FH, Shore EM, Bilker W, Zasloff M, Kaplan FS. Limb swelling in patients who have fibrodysplasia ossificans progressiva. Clin Orthop Rel Res 336: 247-253, 1997



G. Пролежни при ПОФ

Mayo Clinic. Bed sores (pressure sores). http://www.mayoclinic.com/health/bedsores/DS00570 (2008)

Kantanie S (Editor). What is Fibrodysplasia Ossificans Progressiva (FOP)?: A Guidebook for Patients & Families. Third Edition, International ПОФ Association (IFOPA), Winter Springs, Florida, 2008

Reddy M, Gill SS, Rochon PA. Preventing pressure ulcers: a systemic review. JAMA 296: 974-984, 2006

Thomas DR. Issues and dilemmas in the prevention and treatment of pressure ulcers: a review. J Gerontology 56A: M328-M340, 2001

H. Fractures & ПОФ

Einhorn TA, Kaplan FS. Traumatic fractures of heterotopic bone in patients who have fibrodysplasia ossificans progressiva. Clin Orthop Rel Res 308: 173-177, 1994

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I. Профилактика стоматологических заболеваний при ПОФ

Connor JM & Evans DA. Extra-articular ankylosis in fibrodysplasia ossificans progressiva. Br J Oral Surg 20: 117-121, 1982

Luchetti W, Cohen RB, Hahn GV, Rocke DM, Helpin M, Zasloff M, Kaplan FS. Severe restriction in jaw movement after route injection of local anesthetic in patients who have fibrodysplasia ossificans progressiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81: 21-25, 1996

Nussbaum BL, Grunwald Z, Kaplan FS. Oral and dental healthcare and anesthesia for persons with fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 239-242, 2005

Renton P, Parkin SF, Stamp TC. Abnormal temporomandibular joints in fibrodysplasia ossificans progressiva. Br J Oral Surg 230: 31-38. 1982

Young JM, Diecidue RJ, Nussbaum BL. Oral management in a patient with fibrodysplasia ossificans progressiva. Spec Care Dentist 27: 101-104, 2007

J. Стоматологическая анестезия при ПОФ

Luchetti W, Cohen RB, Hahn GV, Rocke DM, Helpin M, Zasloff M, Kaplan FS. Severe restriction in jaw movement after route injection of local anesthetic in patients who have fibrodysplasia ossificans progressiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81: 21-25, 1996

Nussbaum BL, Grunwald Z, Kaplan FS. Oral and dental healthcare and anesthesia for persons with fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 239-242, 2005

Nussbaum BL, O’Hara, I, Kaplan FS. Fibrodysplasia ossificans progressiva: report of a case with guidelines for pediatric dental and anesthetic management. ASDC J Dent Child 63: 448-450, 1996



K. Общая анестезия при ПОФ

Nussbaum BL, Grunwald Z, Kaplan FS. Oral and dental healthcare and anesthesia for persons with fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 239-242, 2005

Tumolo M, Moscatelli A, Silvestri G. Anaesthesia management of child with fibrodysplasia ossificans progressiva. Br J Anaesth 97: 701-703, 2006

L. Ортодонтия при ПОФ

Luchetti W, Cohen RB, Hahn GV, Rocke DM, Helpin M, Zasloff M, Kaplan FS. Severe restriction in jaw movement after route injection of local anesthetic in patients who have fibrodysplasia ossificans progressiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81: 21-25, 1996

67

M. Ухудшение слуха при ПОФ

Levy CE, Lash AT, Janoff HB, Kaplan FS. Conductive hearing loss in individuals with fibrodysplasia ossificans progressive. Am J Audiol 8: 29-33, 1999



N. Почечнокаменная болезнь и ПОФ

Glaser DL, Kaplan FS. Treatment considerations for the management of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 243-250, 2005



O. Вопросы реабилитации при ПОФ

Levy CE, Berner TF, Bendixen R. Rehabilitation for individuals with fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3: 251-256, 2005

Levy CE, Berner TF, Sandhu PS, McCarty B, Denniston MA. Mobility challenges and solutions for fibrodysplasia ossificans progressiva. Arch Phys Med Rehab 80: 1349-1353, 1999

P. Беременность больных ПОФ

Davidson BN, Bowerman RA, La Ferla JJ. Myositis ossificans progressiva and pregnancy. A therapeutic dilemma. J Reprod Med 30: 945-947, 1985

Thornton YS, Birnbaum SJ, Lebowitz, N. A viable pregnancy in a patient with myositis ossificans progressiva. Am J Obstet Gynecol 156: 577-578, 1987

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VI. КРАТКОЕ ОБОБЩЕНИЕ ОСНОВНЫХ ПРАКИЧЕСКИХ МЕТОДОВ ЛЕЧЕНИЯ ПОФ

Kaplan FS, Le Merrer M, Glaser DL, Pignolo RJ, Goldsby R, Kitterman JA, Groppe J, Shore EM. Fibrodysplasia ossificans progressiva (ПОФ). Best Practice & Research – Clinical Rheumatology 22: 191-205, 2008

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VII. ЗАКЛЮЧЕНИЕ

Stephens T & Brynner R. Dark Remedy: The Impact of Thalidomide And Its Revival as a Vital Medicine. Perseus Books, 208 pages, 2001

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X. ЧЛЕНЫ МЕЖДУНАРОДНОГО КЛИНИЧЕСКОГО КОНСОРЦИУМА ПО ПРОГРЕССИРУЮЩЕЙ ОССИФИЦИРУЮЩЕЙ ФИБРОДИСПЛАЗИИ

Benjamin Alman, M.D., FRCSC

Head, Division of Orthopaedic Surgery

The Hospital for Sick Children

555 University Avenue

Toronto, Ontario

Canada M5G 1X8

Tel: 416- 813-7980

Fax: 416-813-6414

Email: benjamin.alman@sickkids.ca

Darko Anticevic, M.D.

Professor

Department of Orthopaedics

University of Zagreb School of Medicine

Salata 6


10000 Zagreb

Croatia


Tel: 011-385-1-4819911

Email: darko.anticevic@zg.htnet.hr

John Stephen Bamforth, M.D. Department of Medical Genetics 8-53 Medical Sciences building University of Alberta Hospital Edmonton, Alberta T6G 2H7 Canada

Tel: 1-780-407-7327 Fax: 1-780-407-6845 Email: sbamfort@cha.ab.ca

Jonathan Bernstein, M.D.

Director


Children’s Center for Cancer & Blood Diseases of Las Vegas

1090 E. Desert Inn

Suite 200

Las Vegas, NV 89109

Tel: 702-732-1493

Fax: 702-732-1080

Email: jonbern1@aol.com

Cindy Blifeld, M.D.

Lompoc Valley Pediatric Care Center, Inc.

1111 East Ocean Avenue #6

Lompoc, CA 93436

Tel: (805) 736-4970

Fax: (805) 736-7592

Email: CindyBlifeldMD@lvpcc.com

71

Tae-Joon Cho, M.D.



Associate Professor

Department of Orthopaedic Surgery

Seoul National University Children’s Hospital

28 Yongon-dong Jongno-gu

Seoul 110-744

Republic of Korea

Tel: 011-82-2-760-3640

Fax: 011-82-2-745-3367

Email: tjcho@snu.ac.kr

In Ho Choi, M.D.

Professor

Department of Orthopaedic Surgery

Room 6314

Seoul National University Children’s Hospital

28 Yongon-dong Jongno-gu

Seoul 110-744

Republic of Korea

Tel: 011-82-2-2072-2878

Fax: 011-82-2-2745-3367

Email: inhoc@snu.ac.kr

J. Michael Connor, M.D.

Professor and Chief

Institute of Medical Genetics

University of Glasgow Medical School

Glasgow G3 8SJ

Scotland


United Kingdom

Tel: 011+44 141 201 0363/2114/0365

Fax: 011-44-141-357-0364

E-mail: J.M.Connor@clinmed.gla.ac.uk

Carmen L. De Cunto, M.D.

Professor and Chief

ПОФ Clinical Advisor, Argentina

Pediatric Rheumatology Section

Department of Pediatrics

Hospital Italiano de Buenos Aires

Gascón 450, 1181

Ciudad Autónoma de Buenos Aires

Argentina

Tel: 5411-4959-0578

Fax: 5411-4959-0577

Email: carmen.decunto@hospitalitaliano.org.ar

72

Patricia L. R. Delai, M.D.



Orthopaedic Department of Santa Casa de Misericórdia de

São Paulo School of Medicine

Faculdade de Ciências Médicas da Santa Casa de São Paulo –

Departamento de Ortopedia

Rua Pedro de Toledo 129 cj 121 - Vila Clementino

Cep: 04039-001

São Paulo

Brazil


Tel: 55-11- 5539-5817 (office) or 55-11- 9658-8816 (cell) or

55-11- 3501-1891 (home)

Email: patriciadelai@uol.com.br

Martin Delatycki

Associate Professor

Director, Bruce Lefroy Centre for Genetic Health Research

Clinical Geneticist, Genetic Health Services

Victoria Murdoch Children’s Research Institute

Royal Children's Hospital

Flemington Road

Parkville, 3052

Victoria


Australia

Tel: +61 3 8341 6284

Fax: +61 3 8341 6390

Email: martin.delatycki@ghsv.org.au

Maja DiRocco, M.D.

Unit of Rare Diseases

Department of Pediatrics Gaslini Institute

Largo Gaslini 3

16147 Genoa

Italy


Tel: +39-010-563-6794

Fax: +39-010-563-6211

Email: majadirocco@ospedale-gaslini.ge.it

Gerald Ente, M.D. 344 1st St

Mineola, NY 11501-3733 Tel: 516- 873-3683 Fax: 516-873-3084 Email: entedoc@aol.com

Gabriele Gillessen-Kasebach, M.D.

Professor and Chair of Genetics

Institut für Humangenetik Lübeck

Universitätsklinikum Schleswig-Holstein

Ratzeburgeralle 160

D-23538 Lübeck

Germany


Tel: +494515002620

Fax: +494515004187

Email: g.gillessen@uk-sh.de

73

David L. Glaser, M.D.



Assistant Professor

Department of Orthopaedic Surgery

University of Pennsylvania Health System

Presbyterian Hospital/1 Cupp

39th and Market Street

Philadelphia, PA 19104

Tel: 215-349-8735 or Cell: 215-510-3261

Fax: 215-349-5928

E-mail: david.glaser@uphs.upenn.edu

Robert Goldsby, M.D.

Associate Professor

Department of Pediatrics, Division of Pediatric Hematology/Oncology

Box 0106

University of California San Francisco

San Francisco, CA 94143-0734

Tel: 415-476-3831

Fax: 415-502-4372

Email: goldsbyr@peds.ucsf.edu

Jay Groppe, Ph.D.

Associate Professor

Department of Biomedical Sciences

Baylor College of Dentistry

Texas A & M University Health Science Center

3302 Gaston Avenue

Dallas, Texas 75246

Tel: 214-370-7203 (office) or 214-370-7212 (laboratory)

Fax: 214-874-4538

Email: jgroppe@bcd.tamhsc.edu

Nobuhiko Haga, M.D.

Professor

Department of Rehabilitation Medicine

Graduate School of Medicine

The University of Tokyo

7-3-1 Hongo, Bunkyo-ku

Tokyo 113-8655

Japan


Tel: 011+81-3-5800-8795

Fax: 011+81-3-5684-2094

Email: hagan-reh@h.u-tokyo.ac.jp

Charles C. Hong, M.D., Ph.D.

Assistant Professor

Department of Medicine

Vanderbilt University School of Medicine

2220 Pierce Avenue

383 Preston Research Building

Nashville, TN 37232

Cell: 615-332-1402

Phone: 615-936-7032

Email: charles.c.hong@vanderbilt.edu

74

Julie Hoover-Fong, M.D., Ph.D.



Clinical Director

Greenberg Center for Skeletal Dysplasias

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University

600 N. Wolfe Street – Blalock 1008

Baltimore, MD 21287

Tel: 410:955-3071

Fax: 410-502-2375

E-mail: jhoover2@jhmi.edu

Frederick S. Kaplan, M.D.

Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine

Director, Center for Research in ПОФ & Related Disorders

The University of Pennsylvania School of Medicine

Hospital of The University of Pennsylvania

Department of Orthopaedic Surgery

Silverstein Pavilion - Second Floor

3400 Spruce Street

Philadelphia, PA 19104, USA

Tel: (Office) 215-349-8726/8727 or (Home) 215-545-0758

Fax: 215-349-5928

Email: frederick.kaplan@uphs.upenn.edu

Takenobu Katagiri, Ph.D.

Head and Professor

Division of Pathophysiology

Research Center for Genomic Medicine

Saitama Medical University

1397-1 Yamane, Hidaka-shi

Saitama 350-1241

Japan

Tel: 011-81-42-984-0443



Fax: 011-81-42-984-4651

Email: katagiri@saitama-med.ac.jp

Mary Ann E. Keenan, M.D.

Professor

Department of Orthopaedic Surgery

Director, Neuro-Orthopaedics Program

Department of Orthopaedic Surgery

University of Pennsylvania Medical Center

2 Silverstein

3400 Spruce Street

Philadelphia, PA 19104

Tel: 1-215-349-8691

Fax: 1-215-349-5928

Email: maryann.keenan@uphs.upenn.edu

75

Joseph A. Kitterman, M.D.



Professor Emeritus

Department of Pediatrics and Cardiovascular Research Institute

U-503, Box 0734

University of California San Francisco

San Francisco, CA 94143-0734

Tel: 415-383-3471

Fax: 415-476-9976

Email: j-k-kitterman@att.net

Uri A. Liberman, M.D., Ph.D.

Professor of Physiology & Medicine

Tel Aviv University

Physiology & Pharmacology

Sackler Faculty of Medicine

25 Tagore Street

Tel Aviv 69203

Israel


Tel: +972-36417827

Fax: +972-36419506

Email: uliberm@post.tau.ac.il

Shio Jean Lin, M.D.

Vice Dean for Medical Education

Professor in Pediatrics

National Cheng Kung University School of Medicine

Deputy Superintendent

National Cheng Kung University Hospital

138 Sheng-Li Road

Tainan 70428

Taiwan


Tel: 1-886-6-2353535 X 2002 or 5286

Fax: 1-886-6-2097950 or 886-6-2380519

Martine Le Merrer, M.D.

Professor

Department of Genetics

INSERM U781

Hopital des Enfants Malades

49 Rue de Sevres

75015 Paris

France


Tel: 011 33-(0)1-44-49-51-51/52

E-mail: lemerrer@necker.fr

76

Jim McGill, M.D.



Clinical Geneticist

Director, Department of Metabolic Medicine

Royal Children’s Hospital

Ground Floor, Surgical Building

Herston Road

Herston, Queensland 4029

Australia

Tel: 61-7-3636-8176

Fax: 61-7-3636-5505

Email: Jim_McGill@health.qld.gov.au

Fergus E. McKiernan, M.D. Center for Bone Diseases Marshfield Clinic 1000 North Oak Avenue Marshfield, WI 54449-5777 Tel: 715-387-5682 Fax: 715-387-5644 Email: mckiernf@mfldclin.edu

Ralph J. Marino, M.D., M.S., FACRM

Associate Professor

Department of Rehabilitation Medicine

Jefferson Medical College of Thomas Jefferson University

132 South 10th Street

Suite 375 - Main Building

Philadelphia, PA 19107

Tel: 215-955-5756

Fax: 215-955-5152

Email: ralph.marino@jefferson.edu

Deanna Mitchell, M.D.

Attending Pediatric Hematologist-Oncologist

DeVos Children’s Hospital

Pediatric Hematology/Oncology

100 Michigan NE Grand Rapids, MI 49503

Tel: 616-391-2086

Fax: 616-391-8873

E-mail: deanna.mitchell@devoschildrens.org

Rolf Morhart, M.D.

Medical Director

Department of Pediatrics

Klinikum Garmisch-Partenkirchen GmbH

Auenstraße 6

D-82467 Garmisch-Partenkirchen

Germany


Tel. +49-(0)8821 / 77-1350

Fax. +49-(0)8821 / 77-1351

Email: rolf.morhart@KliniKum-gap.de

77

Geert Mortier, M.D., Ph.D.



Professor of Medical Genetics

Center for Medical Genetics

Ghent University Hospital

De Pintelaan 185

B-9000 Gent

Belgium


Tel: +32-9-3322458 or +32-9-3323603 (office)

Fax: +32-9-3324970

Email: geert.mortier@UGent.be

Stefan Mundlos, M.D.

Professor

Departments of Medicine and Genetics

Institut für Medizinische Genetik

Charité – Universitäts-Medizin Berlin

Campus Virchow-Klinikum

13353 Berlin, Germany

E-mail: stefan.mundlos@charite.de

Coen Netelenbos, M.D., Ph.D.

Professor

Departments of Medicine and Genetics

Division of Endocrinology

University Hospital Vrije Universiteit

De Boelelaan 1117/ P.O. Box 7057

1007 MB Amsterdam

The Netherlands

Tel: 011 31 20 444 0530

E-mail: c.netelen@vumc.nl

Dau-Ming Niu, M.D., Ph.D.

Director, Medical Genetic Center of Taipei

Veterans General Hospital

Associate Professor, Institute of Clinical Medicine

National Yang-Ming University

No. 201, Sec. 2, Shih-Pai Road

Taipei 112

Taiwan

Tel: 1-886-2-66115889



Fax: 1-886-2-28767181

Email: dmniu1111@yahoo.com.tw

Robert J. Pignolo, M.D., Ph.D

Assistant Professor

Director, Ralston-Penn Clinic for Osteoporosis & Related Bone Disorders

Department of Medicine Division of Geriatric Medicine

University of Pennsylvania School of Medicine

751 Biomedical Research Building II/III (BRB II/III)

421 Curie Boulevard

Philadelphia, PA 19104-6061

Telephone: 215-573-4394

Fax: 215-573-7599

Email: pignolo@mail.med.upenn.edu

78

Roberto Ravazzolo, M.D.



Professor

Laboratory of Molecular Genetics

G. Gaslini Institute

Department of Pediatrics and CEBR

University of Genova

Largo G. Gaslini 5

16148 Genova

Italy


Tel: 011-39-010-5636370; 011-39-010-563-6400

Fax: 011-39-010-377-9797

Email: rravazzo@unige.it

David M. Rocke, Ph.D. Distinguished Professor Division of Biostatistics School of Medicine University of California-Davis One Shields Avenue Davis, California 95616 Tel: 530-752-6999 E-mail: dmrocke@ucdavis.edu

John G. Rogers, M.D.

Senior Medical Geneticist, Emeritus

10 Albany Road

Toorak 3142

Victoria, Australia

Tel: +613 9822 2943 or +61 412 777 123 (cell)

Email: rogfam@bigpond.net.au

Eric Ronge, M.D.

Consultant Pediatrician

Pediatric Department

Central Hospital

SE-54185


Skönde, Sweden

Tel: +46-500-431-000 or +46-500-432-295

Fax: +46-500-432-029

Email: eric.ronge@vgregion.se

Astrid Schulze, M.D.

Consultant Pediatrician/Pediatric Neurologist

Child Neuro/Disability Service Sofievägen 2

University Hospital

SE-222-41

Lund, Sweden

Tel: +46-46-770-761 or +46-46-770-709

Fax: +46-46-770-710

Email: Astrid.Schulze@skane.se

79

Petra Seemann, Ph.D.



Senior Investigator

Max Planck Institute for Molecular Genetics

Development and Disease

Ihnestr. 73

14195 Berlin

Germany


Tel: 011-49 30 8413 1449

Fax: 011-49 30 8413 1385

Email: seemann@molgen.mpg.de

Eileen M. Shore, Ph.D.

Associate Professor

Departments of Orthopaedic Surgery and Genetics

Co-Director, Center for Research in ПОФ & Related Disorders

Director, ПОФ Laboratory

The University of Pennsylvania School of Medicine

424 Stemmler Hall

36th & Hamilton Walk

Philadelphia, PA 19104

Tel: 215-898-2330/2331

Fax: 215-573-2133

E-mail: shore@mail.med.upenn.edu

Steve Shuss, M.D. 197 Cedar Lane Teaneck, NJ 07666 Tel: 201-836-7171 Fax: 201-928-4227

David Sillence, M.D. FRACP FAFRM (Hon)

Professor of Medical Genetics

Head of Connective Tissue Dysplasia Clinic

The Children's Hospital at Westmead

Locked Bag 4001

Westmead NSW 2145

Sydney, Australia

And


Department of Genetic Medicine Westmead Hospital (adults)

Westmead NSW 2145

Sydney, Australia

Tel: 61-2-9845-0000

Fax: 61-2-9845-3489

Email: davids@chw.edu.au

80

Roger Smith, M.D.



Honorary Consultant Physician

Nuffield Orthopaedic Centre

Windmill Road

Headington

Oxford OX3 7LD

England


United Kingdom

Tel: 011-44-186-579-0800

Email: Ann.Burrows@ndos.ox.ac.uk

Jeffrey Tabas, M.D.

Director Performance Improvement

San Francisco General Hospital Emergency Services

Associate Professor

UCSF School of Medicine

505 Parnassus Avenue, L138, Box 0208

San Francisco, CA 94143

Tel: 415-206-5759

Fax: 415-206-5818

Email: jeff.tabas@emergency.ucsf.edu

James T. Triffitt, Ph.D.

Professor

Institute of Musculoskeletal Sciences

Botnar Research Centre

Nuffield Department of Orthopaedic Surgery

University of Oxford

Nuffield Orthopaedic Centre

Oxford OX3 7LD, United Kingdom

Tel: 011-44-1865-227660

Fax: 011-44-1865-227673

Email: james.triffitt@ndos.ox.ac.uk

Pernille Tryli, M.D.

Attending Pediatric Physician

Tryli Atna

Hedark N-2476

Norway

Tel: 0047-97188496



E-mail: pernille.tryli@sykehuset-innlandet.no

Heinz Unterbörsch, M.D.

Attending Orthopaedic Surgeon

Orthopädische Praxis

Friedrich-Offermann-Strasse 5

51429 Bergisch Gladbach

Bensberg

Germany


Tel: 011+49 2204-51027

Fax: 011+49 22 04-51028

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J. Andoni Urtizberea, M.D.



Assistance Publique - Hôpitaux de Paris (AP-HP)

Attending physician of Physical Medicine and Rehabitation

Hospital Marin

Route de la Corniche

64700 Hendaye

France


Tel: 33 (0)5 59 48 26 86

E-mail: andoni.urtizberea@hnd.aphp.fr

Anders Wallin, M.D. Chief of Pediatrics Mälarsjukhuset Barn-och ungdomskliniken 631 88 Eskilstuna Sweden

Tel: (hospital) +4616103000 Tel: (cell) +46708776640 Email: anders.wallin@dll.se

Guosheng Wang, M.D.

Associate Professor

Department of Rheumatology

Anhui Provincial Hospital

17# Lujiang Road

Hefei, 230001

Anhui Province

P.R. China

Tel: 011-86-551-2283475

Fax: 011-86-551-2283475

Email: gswang@mail.hf.ah.cn

Anders Westermark, M.D.

Professor

Karolinska University Hospital

Department of Maxillofacial Surgery

Stockholm, SE 17176

Sweden

Tel: 00 46 851776172



Email: Anders.Westermark@karolinska.se

Mordechai Weiss, M.D.

Chief, Endocrine Institute

Assaf Harofeh Medical Center

Zerifin 70300

Israel


Tel: +972-8-977-9270

Email: mweiss@asaf.health.gov.il

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Michael Whyte, M.D.



Medical-Scientific Director

Center for Metabolic Bone Disease and Molecular Research

Shriners Hospital for Children

2001 South Lindbergh Blvd.

St. Louis, MO 63131

Tel: 314-872-8305

Fax: 314-872-7844

E-mail: MWhyte@shrinenet.org

Paul Wordsworth, M.D.

Nuffield Department of Orthopaedic Surgery

Nuffield Orthopaedic Centre

Windmill Road

Headington, Oxford OX3 7LD

United Kingdom

Tel: -011-1865 -737545

Fax:-011-1865 -737640

Email: paul.wordsworth@clinical-medicine.oxford.ac.uk

Nicholas D. Yeager, M.D.

Assistant Professor of Pediatrics

Section Hematology-Oncology

Nationwide Children’s Hospital

The Ohio State University

700 Children’s Drive

Columbus, Ohio 43205

Tel: 614-722-3553

Fax: 614-722-3699

Email: Nicholas.Yeager@nationwidechildrens.org

Michael Zasloff, M.D., Ph.D.

Adjunct Professor

Departments of Orthopaedic Surgery and Genetics

The Center for Research in ПОФ & Related Disorders

The University of Pennsylvania School of Medicine

and

Professor, Departments of Surgery and Pediatrics



Director, Surgical Immunology

Georgetown University

Med/Dent NW 210

Washington, DC 20007

Tel: 202-687-5707 (office) or 610-617-3488 (home) or 484-433-7807 (cell)

Fax: 202-687-0992

Email: maz5@georgetown.edu

83

По вопросам, связанным с стоматологией и уходом за полостью рта больных ПОФ, можно проконсультироваться у следующих членов Консорциума:

Burton Nussbaum, D.D.S.

Adjunct Associate Professor, Pediatric Dentistry

University of Pennsylvania School of Medicine;

Special Needs Dentist:

Thomas Jefferson University Medical School and Hospital

Dentistry for Special People

1910 East State Route 70 - Suite 9

Cherry Hill, NJ 08003

Tel: 856-424-5955

Fax: 856-482-7825

E-mail: bikr2th@aol.com

Allen Wong, D.D.S., DABSCD

Hospital Dentistry Program, Director

University of the Pacific

Arthur A. Dugoni School of Dentistry

2155 Webster Street

San Francisco, CA 94115

Tel: 415-720-4609 (cell) or 888-241-3694 (emergency beeper)

Email: awong@pacific.edu

По вопросам, связанным с проведением общей анестезии у больных ПОФ, вы можете связаться с указанным ниже членом консорциума:

Zvi Grunwald, M.D.

The James D. Wentzler Professor and Chairman

Department of Anesthesiology

Thomas Jefferson University and Hospitals

111 South 11th Street, Suite G-8490

Philadelphia, PA 19107

Tel: 215-955-6161

Fax: 215-923-5507

Email: zvi.grunwald@jefferson.edu

For questions on rehabilitation for ПОФ patients, please contact the following consortium members:

Charles E. Levy, M.D.

Chief, Physical Medicine and Rehabilitation Service

North Florida/South Georgia Veterans Health Service

Associate Adjunct Professor, Department of Occupational Therapy

University of Florida

1601 SW Archer Road

Gainesville, Florida 32608

Tel: 352- 374-6065

Fax: 352-374-6116

Email: charles.levy@va.gov

84

Theresa F. Berner, MOT, OTR/L, ATP



Rehabilitation Team Leader

The Ohio State University Medical Center

Tel: 614 293-3847

Fax: 614 293-6400



E-mail: Theresa.Berner@osumc.edu

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