Reed E Pyeritz

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. doi request reprint The 8th international research symposium on the Marfan syndrome and related conditions
    Reed E Pyeritz
    Department of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 158:42-9. 2012
  2. doi request reprint Evaluation of the adolescent or adult with some features of Marfan syndrome
    Reed E Pyeritz
    Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 14:171-7. 2012
  3. doi request reprint The family history: the first genetic test, and still useful after all those years?
    Reed E Pyeritz
    Center for the Integration of Genetic Healthcare Technologies, Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 14:3-9. 2012
  4. ncbi request reprint Marfan syndrome and related disorders
    Reed E Pyeritz
    Division of Medical Genetics, Hospital of the University of Pennsylvania, Maloney 538, 3400 Spruce St, Philadelphia, PA 19104, USA
    Ann Thorac Surg 86:335-6. 2008
  5. doi request reprint Does use of coils in addition to amplatzer vascular plugs prevent recanalization?
    Scott O Trerotola
    Department of Radiology, Division of Vascular and Interventional Radiology, University of Pennsylvania Medical Center, 1 Silverstein, 3400 Spruce St, Philadelphia, PA 19104, USA
    AJR Am J Roentgenol 195:766-71. 2010
  6. doi request reprint Outpatient single-session pulmonary arteriovenous malformation embolization
    Scott O Trerotola
    Department of Radiology, Division of Interventional Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Vasc Interv Radiol 20:1287-91. 2009
  7. doi request reprint Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia
    Barbara A Bernhardt
    Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 14:604-10. 2012
  8. doi request reprint PAVM embolization: an update
    Scott O Trerotola
    Department of Radiology, Division of Interventional Radiology, Philadelphia, PA 19104, USA
    AJR Am J Roentgenol 195:837-45. 2010
  9. doi request reprint Self-surveillance by adolescents and young adults transitioning to self-management of a chronic genetic disorder
    Ellen Giarelli
    University of Pennsylvania, Philadelphia, 19104, USA
    Health Educ Behav 37:133-50. 2010
  10. pmc A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice
    Marian Reiff
    Center for the Integration of Genetic Health Care Technologies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    J Genet Couns 23:474-88. 2014

Collaborators

Detail Information

Publications39

  1. doi request reprint The 8th international research symposium on the Marfan syndrome and related conditions
    Reed E Pyeritz
    Department of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 158:42-9. 2012
    ....
  2. doi request reprint Evaluation of the adolescent or adult with some features of Marfan syndrome
    Reed E Pyeritz
    Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 14:171-7. 2012
    ..This practice guideline provides guidance for the approach to this cadre of individuals...
  3. doi request reprint The family history: the first genetic test, and still useful after all those years?
    Reed E Pyeritz
    Center for the Integration of Genetic Healthcare Technologies, Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 14:3-9. 2012
    ..Given the time and expertise needed to obtain and interpret the family history, without a clearer sense of clinical validity and utility, its role will likely diminish. The time to perform the requisite investigations is now...
  4. ncbi request reprint Marfan syndrome and related disorders
    Reed E Pyeritz
    Division of Medical Genetics, Hospital of the University of Pennsylvania, Maloney 538, 3400 Spruce St, Philadelphia, PA 19104, USA
    Ann Thorac Surg 86:335-6. 2008
  5. doi request reprint Does use of coils in addition to amplatzer vascular plugs prevent recanalization?
    Scott O Trerotola
    Department of Radiology, Division of Vascular and Interventional Radiology, University of Pennsylvania Medical Center, 1 Silverstein, 3400 Spruce St, Philadelphia, PA 19104, USA
    AJR Am J Roentgenol 195:766-71. 2010
    ..We evaluated our experience with the use of at least one coil in addition to the vascular plug whenever possible in the treatment of patients with a PAVM...
  6. doi request reprint Outpatient single-session pulmonary arteriovenous malformation embolization
    Scott O Trerotola
    Department of Radiology, Division of Interventional Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Vasc Interv Radiol 20:1287-91. 2009
    ..The present report describes results from this center on an intent-to-treat basis...
  7. doi request reprint Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia
    Barbara A Bernhardt
    Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 14:604-10. 2012
    ..We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives...
  8. doi request reprint PAVM embolization: an update
    Scott O Trerotola
    Department of Radiology, Division of Interventional Radiology, Philadelphia, PA 19104, USA
    AJR Am J Roentgenol 195:837-45. 2010
    ..Untreated, they represent a serious threat due to paradoxical embolization that may manifest as stroke or brain abscess. PAVM treatment is challenging even in the most experienced hands...
  9. doi request reprint Self-surveillance by adolescents and young adults transitioning to self-management of a chronic genetic disorder
    Ellen Giarelli
    University of Pennsylvania, Philadelphia, 19104, USA
    Health Educ Behav 37:133-50. 2010
    ..The patient-parent-physician relationship is the context for teaching adolescents and young adults self-surveillance skills. Self-surveillance by patients is first-line symptom assessment and an adjunct to medical monitoring...
  10. pmc A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice
    Marian Reiff
    Center for the Integration of Genetic Health Care Technologies, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    J Genet Couns 23:474-88. 2014
    ....
  11. doi request reprint Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboli
    Katherine Clark
    Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
    Am J Cardiol 112:731-4. 2013
    ..In conclusion, we suggest that in patients with untreated PAVMs, cardiac ischemia can occur because of a paradoxical embolus through PAVMs to a coronary artery...
  12. doi request reprint Covered stent to treat pulmonary arteriovenous malformation with short feeding artery
    Scott O Trerotola
    Department of Radiology, Division of Interventional Radiology, University of Pennsylvania Medical Center, 3400 Spruce Street, 1 Silverstein, Philadelphia, PA 19104, USA
    J Vasc Interv Radiol 20:824-8. 2009
    ..A covered stent was used to successfully exclude the feeding vessel and treat the PAVM. At 6-month follow-up, the PAVM sac was gone and the stent remained patent...
  13. pmc Differences in the patterns of health care system distrust between blacks and whites
    Katrina Armstrong
    Department of Medicine, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Gen Intern Med 23:827-33. 2008
    ....
  14. ncbi request reprint Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy
    Woojin Kim
    Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am J Med Genet A 143:377-81. 2007
    ..Improvement was seen on pulmonary function tests and chest CT examinations. Enzyme replacement therapy may alleviate pulmonary dysfunction in patients with Fabry disease...
  15. doi request reprint Treated pulmonary arteriovenous malformations: patterns of persistence and associated retreatment success
    Catherine S Woodward
    From the Department of Radiology, Division of Interventional Radiology C S W, S O T, and Department of Medicine, Division of Translational Medicine and Human Genetics R E P, University of Pennsylvania Medical Center, Hospital of the University of Pennsylvania, 1 Silverstein, 3400 Spruce St, Philadelphia, PA 19104 and Department of Medicine, Division of Biostatistics, Drexel University School of Medicine, Philadelphia, Pa J L C
    Radiology 269:919-26. 2013
    ....
  16. doi request reprint Stroke and outcomes in patients with acute type A aortic dissection
    Eduardo Bossone
    Department of Cardiology, University of Salerno, Salerno, Italy E B Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI D C C, E K R, D G M, K A E Abbott Northwestern Hospital, Minneapolis Heart Institute, Minneapolis, MN K M H Department of Cardiovascular Medicine, University of Tokyo, Tokyo, Japan T S Department of Interventional Cardiology, San Salvatore Hospital, Pesaro, Italy R F Department of Cardiac Sciences, University of Calgary, Calgary, Canada S H Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria M P E Division of Medical Genetics, University of Pennsylvania, Philadelphia, PA R E P Department of Cardiology, Hopital Bichat, Paris, France P G S Division of Cardiovascular Surgery, Mayo Clinic, Rochester, MN K G Servei de Cardiologia, Hospital General Universitari Vall d Hebron, Barcelona, Spain A E Thoracic Aortic Center, Massachusetts General Hospital, Boston, MA E M I and Department of Internal Medicine, University of Rostock, Rostock, Germany C A N
    Circulation 128:S175-9. 2013
    ..Stroke is a highly dreaded complication of type A acute aortic dissection (TAAAD). However, little data exist on its incidence and association with prognosis...
  17. pmc Distress and burnout among genetic service providers
    Barbara A Bernhardt
    Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Genet Med 11:527-35. 2009
    ..To determine the nature, sources, prevalence, and consequences of distress and burnout among genetics professionals...
  18. pmc "What does it mean?": uncertainties in understanding results of chromosomal microarray testing
    Marian Reiff
    Center for the Integration of Genetic Healthcare Technologies, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    Genet Med 14:250-8. 2012
    ..This paper explores how families understand and make meaning of CMA test results, and identifies the needs of families undergoing CMA testing...
  19. doi request reprint Digital subtraction pulmonary arteriography versus multidetector CT in the detection of pulmonary arteriovenous malformations
    Asad Nawaz
    Division of Interventional Radiology, Department of Radiology, University of Pennsylvania Medical Center, 3400 Spruce Street, 1 Silverstein, Philadelphia, Pennsylvania 19104, USA
    J Vasc Interv Radiol 19:1582-8. 2008
    ....
  20. ncbi request reprint Clinical problem-solving. What's the connection? - A 26-year-old white man presented to our referral hospital with a 1-month history of persistent cough productive of white sputum, which was occasionally tinged with blood
    Aharon E Sareli
    Department of Medicine, University of Pennsylvania, Philadelphia, USA
    N Engl J Med 358:626-32. 2008
  21. ncbi request reprint Successful surgical management of acute type A aortic dissection associated with Crohn disease
    John G T Augoustides
    Cardiothoracic Section, Anesthesiology and Critical Care, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4283, USA
    J Thorac Cardiovasc Surg 134:1048-9. 2007
  22. doi request reprint Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections
    Eduardo J Mortani Barbosa
    Department of Radiology, The Raymond and Ruth Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Am J Med Genet A 155:3090-4. 2011
    ..Both prophylactic and emergency management remain largely ineffective in this connective tissue disorder; however, noninvasive imaging may provide important prognostic information...
  23. ncbi request reprint Management of aortic disease in Marfan Syndrome: a decision analysis
    Seo Young Kim
    Division of Rheumatology, Department of Medicine, University of Pennsylvania, Philadelphia 19104, USA
    Arch Intern Med 165:749-55. 2005
    ....
  24. ncbi request reprint When genetic screening is useful, but not used
    Barbara A Bernhardt
    Center for Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, PA, USA
    LDI Issue Brief 16:1-4. 2011
    ..It explores the barriers to the use of genetic screening and has implications for the future as genetic technologies become more complex and produce more uncertainty...
  25. pmc Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia
    Barbara A Bernhardt
    Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Pennsylvania, USA
    Genet Med 13:812-20. 2011
    ..Genetic testing may identify relatives needing follow-up but is underused. We conducted this study to identify barriers to genetic testing for one disorder, hereditary hemorrhagic telangiectasia...
  26. ncbi request reprint Abdominal visceral findings in patients with Marfan syndrome
    Kira Chow
    Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 4283, USA
    Genet Med 9:208-12. 2007
    ..To date, there have been no reports concerning abdominal visceral findings in this disorder. The purpose of this study was to determine the prevalence of abdominal visceral findings in patients with Marfan syndrome...
  27. doi request reprint Adolescents' transition to self-management of a chronic genetic disorder
    Ellen Giarelli
    University of Pennsylvania School of Nursing, Biobehavioral Research Center, Philadelphia, Pennsylvania 19104, USA
    Qual Health Res 18:441-57. 2008
    ..Transition to self-management is part of an evolving model of participation in life-long surveillance...
  28. doi request reprint Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasia
    Emile R Mohler
    Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, USA
    Genet Med 11:356-8. 2009
    ..We describe a novel approach for detecting vascular abnormalities deep in the digits by means of a handheld illuminator...
  29. doi request reprint Medical management of Marfan syndrome
    Martin G Keane
    Departments of Medicine, University of Pennsylvania, Philadelphia, PA 19104 4283, USA
    Circulation 117:2802-13. 2008
  30. ncbi request reprint A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 4, and 6 detected by fluorescence in situ hybridization (FISH)
    David J Hoffman
    Section of Neonatal Medicine, MCP Hahnemann School of Medicine and St Christopher s Hospital for Children, Philadelphia, Pennsylvania, USA
    Am J Perinatol 21:69-71. 2004
    ..The karyotype is 46,XX,der(2)t(2;6)(p23;q25.1), t(4;6)(q31.3;q25.1). Her mother has a normal female karyotype. The father was unavailable for physical examination or cytogenetic analysis...
  31. ncbi request reprint Aneurysm syndromes caused by mutations in the TGF-beta receptor
    Bart L Loeys
    McKusick Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore, USA
    N Engl J Med 355:788-98. 2006
    ....
  32. ncbi request reprint Leg-length discrepancy and scoliosis in Marfan syndrome
    Kevin B Jones
    Johns Hopkins Hospital, Baltimore, Maryland 21287 0881, USA
    J Pediatr Orthop 22:807-12. 2002
    ..LLD correlated weakly with Cobb angle. LLD is more common in individuals with Marfan syndrome than in the general population and is associated with increased structural scoliosis...
  33. ncbi request reprint Express yourself--but consider the consequences
    Reed E Pyeritz
    J Thorac Cardiovasc Surg 126:334-6. 2003
  34. pmc Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway
    Ulrike Schwarze
    Department of Pathology, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 74:917-30. 2004
    ..The complete absence of pro alpha 2(I) chains has the surprising effect of producing cardiac valvular disease without bone involvement...
  35. ncbi request reprint Characterization of the symptoms associated with dural ectasia in the Marfan patient
    Jared R H Foran
    Department of Orthopaedic Surgery, University of California San Diego, San Diego, California, USA
    Am J Med Genet A 134:58-65. 2005
    ..Symptoms, when present, are typically moderate to severe, occur several times per week (often daily), are commonly exacerbated by upright posture, and are not always relieved by recumbency...
  36. ncbi request reprint Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome
    Barry J Maron
    J Am Coll Cardiol 45:1340-5. 2005
  37. doi request reprint A small molecule for a large disease
    Reed E Pyeritz
    N Engl J Med 358:2829-31. 2008
  38. pmc Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome
    Ronald V Lacro
    Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Am Heart J 154:624-31. 2007
    ..Recent studies in an FBN1-targeted mouse model of MFS with aortic disease similar to that seen in humans showed that treatment with losartan normalized aortic root growth and aortic wall architecture...
  39. ncbi request reprint Growth and maturation in Marfan syndrome
    Gurkan Erkula
    Department of Orthopaedic Surgery, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
    Am J Med Genet 109:100-15. 2002
    ..This study suggests that the growth spurt and pubertal skeletal maturation occur early in Marfan syndrome. The growth curves generated should help more accurately predict adult stature, as well as monitor progression toward it...