Reed E Pyeritz
Affiliation: University of Pennsylvania
- The 8th international research symposium on the Marfan syndrome and related conditionsReed 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....
- Evaluation of the adolescent or adult with some features of Marfan syndromeReed 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...
- 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...
- Marfan syndrome and related disordersReed 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
- 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...
- Outpatient single-session pulmonary arteriovenous malformation embolizationScott 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...
- Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasiaBarbara 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...
- PAVM embolization: an updateScott O Trerotola
Department of Radiology, Division of Interventional Radiology, Philadelphia, PA 19104, USA
AJR Am J Roentgenol 195:837-45. 2010..New trends in overall PAVM management are also developing...
- Self-surveillance by adolescents and young adults transitioning to self-management of a chronic genetic disorderEllen 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...
- Covered stent to treat pulmonary arteriovenous malformation with short feeding arteryScott 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...
- Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapyWoojin 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...
- Differences in the patterns of health care system distrust between blacks and whitesKatrina Armstrong
Department of Medicine, School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
J Gen Intern Med 23:827-33. 2008....
- Distress and burnout among genetic service providersBarbara 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...
- Successful surgical management of acute type A aortic dissection associated with Crohn diseaseJohn 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
- 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 bloodAharon E Sareli
Department of Medicine, University of Pennsylvania, Philadelphia, USA
N Engl J Med 358:626-32. 2008
- "What does it mean?": uncertainties in understanding results of chromosomal microarray testingMarian 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...
- Digital subtraction pulmonary arteriography versus multidetector CT in the detection of pulmonary arteriovenous malformationsAsad 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....
- Angina pectoris or myocardial infarctions, pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and paradoxical emboliKatherine Clark
Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania
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. ..
- Medical management of Marfan syndromeMartin G Keane
Departments of Medicine, University of Pennsylvania, Philadelphia, PA 19104 4283, USA
Circulation 117:2802-13. 2008
- Management of aortic disease in Marfan Syndrome: a decision analysisSeo Young Kim
Division of Rheumatology, Department of Medicine, University of Pennsylvania, Philadelphia 19104, USA
Arch Intern Med 165:749-55. 2005....
- Abdominal visceral findings in patients with Marfan syndromeKira 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...
- Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissectionsEduardo 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...
- Transillumination of the fingers for vascular anomalies: a novel method for evaluating hereditary hemorrhagic telangiectasiaEmile 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...
- Adolescents' transition to self-management of a chronic genetic disorderEllen 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...
- When genetic screening is useful, but not usedBarbara 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...
- Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasiaBarbara 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...
- 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...
- Aneurysm syndromes caused by mutations in the TGF-beta receptorBart 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....
- A small molecule for a large diseaseReed E Pyeritz
N Engl J Med 358:2829-31. 2008
- Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndromeRonald 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...
- Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndromeBarry J Maron
J Am Coll Cardiol 45:1340-5. 2005
- Characterization of the symptoms associated with dural ectasia in the Marfan patientJared 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...
- Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathwayUlrike 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...
- Express yourself--but consider the consequencesReed E Pyeritz
J Thorac Cardiovasc Surg 126:334-6. 2003
- Leg-length discrepancy and scoliosis in Marfan syndromeKevin 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...
- Growth and maturation in Marfan syndromeGurkan 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...
- Penn Center for ELSI Research in Emerging Genetic Technologies in Health CareReed Pyeritz; Fiscal Year: 2007....