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1. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations

Author

Nishida, Takeo, Faughnan, Marie E, Krings, Timo, Chakinala, Murali, Gossage, James R, Young, William L, Kim, Helen, Pourmohamad, Tony, Henderson, Katharine J, Schrum, Stacy D, James, Melissa, Quinnine, Nancy, Bharatha, Aditya, terBrugge, Karel G, and White, Robert I

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Congenital Structural Anomalies, Hematology, Pediatric, Brain Disorders, Neurosciences, Stroke, Clinical Research, Rare Diseases, Activin Receptors, Type II, Adolescent, Adult, Aged, Antigens, CD, Arteriovenous Fistula, Child, Child, Preschool, Endoglin, Female, Genetic Association Studies, Humans, Infant, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Intracranial Arteriovenous Malformations, Male, Middle Aged, Mutation, Receptors, Cell Surface, Smad4 Protein, Telangiectasia, Hereditary Hemorrhagic, Young Adult, hereditary hemorrhagic telangiectasia, brain arteriovenous malformation, genotype, intracranial hemorrhage, Clinical Sciences, Clinical sciences
Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disease with a wide spectrum of vascular malformations (VMs) involving multiple organs. Nine to 16% of patients with HHT harbor brain arteriovenous malformations (AVMs), which can cause intracranial hemorrhage (ICH). Our objective was to study clinical manifestations of brain AVMs in patients with HHT and correlate these with the specific gene mutated. We reviewed records of 171 patients with HHT and brain AVMs. A history of ICH was found in 27% (41/152) patients, with a mean age of 26 ± 18 range, (0-68) years. All of patients with ICH were neurologically asymptomatic prior to ICH. Multiple brain AVMs were found in 23% (170/39) of patients on initial examination. Genetic test results were available in 109 (64%) patients. Mutations in ENG, ACVRL1, and SMAD4 were present in 75 (69%), 18 (17%), and 2 (2%), respectively. A history of ICH was reported in 24% of patients with an ENG mutation and 27% of patients with an ACVRL1 mutation, with a mean age of 26 ± 16 (range, 2-50) and 18 ± 21 (0-48) years, respectively. No statistically significant differences in age at first brain AVM diagnosis, prevalence of ICH history, age at ICH, or other manifestations of brain AVMs were observed among gene groups. In conclusion, no evidence for differences in brain AVM characteristics was observed among HHT gene groups, although we cannot exclude clinically important differences. Larger studies are needed to further guide brain AVM screening decisions in patients with HHT.

Published
2012

2. Pulmonary Arteriovenous Malformations

Author

Pelage, Jean-Pierre, Lacombe, Pascal, White, Robert I., Jr., Pollak, Jeffray S., Baert, A. L., editor, Sartor, K., editor, Golzarian, Jafar, editor, Sun, Shiliang, editor, and Sharafuddin, Melhelm J., editor

Published
2006
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4. Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia

Author

Kasthuri, Raj S., Montifar, Megan, Nelson, Jeffrey, Kim, Helen, Lawton, Michael T., Faughnan, Marie E., Chakinala, Murali, Clancy, Marianne S., Faughnan, Marie E., Gossage, James R., Henderson, Katherine, Iyer, Vivek, Kasthuri, Raj S., Kim, Helen, Krings, Timo, Lawton, Michael T., Lin, Doris, Mager, Hans‐Jurgen, McWilliams, Justin P., McDonald, Jamie, Pawlikowska, Ludmila, Pollak, Jeffrey, Ratjen, Felix, Swanson, Karen, terBrugge, Karel, Vethanayagam, Dilini, White, Andrew, White, Robert I., Jr, Wilcox, Pearce, and Young, William L.

Published
2017
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5. Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia

Author

Kim, Helen, Nelson, Jeffrey, Krings, Timo, terBrugge, Karel G., McCulloch, Charles E., Lawton, Michael T., Young, William L., Faughnan, Marie E., Chakinala, Murali, Gossage, James R., Henderson, Katharine, Iyer, Vivek, Kasthuri, Raj, Lin, Doris, Mager, Johannes Jurgen, McWilliams, Justin, McDonald, Jamie, Pawlikowska, Ludmila, Pollak, Jeffrey, Ratjen, Felix, Swanson, Karen, Vethanayagam, Dilini, White, Andrew, White, Robert I., Jr, and Wilcox, Pearce

Published
2015
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13. Contributors

Author

Abujudeh, Hani, primary, Adam, Andreas, additional, Ahmad, Hassan M., additional, Ahn, Sun Ho, additional, Ahrar, Kamran, additional, Alaghmand, Morvarid, additional, Alfidja, Agaicha, additional, Alomari, Ahmad I., additional, Ambrosanio, Gennaro, additional, Ang, Soon Ghee, additional, Angle, John Frederick, additional, Ansel, Gary M., additional, Atassi, Bassel, additional, Auriol, Julien, additional, Baez, Juan Carlos, additional, Bakal, Curtis W., additional, Balzer, Jörn Oliver, additional, Barbato, Joel E., additional, Barnett, Brad P., additional, Baroud, Gamal, additional, Bartolozzi, Carlo, additional, Bauer, Jason R., additional, Baum, Richard Arthur, additional, Bell, Kevin Walter, additional, Bello, Jacqueline A., additional, Berkeley, Jennifer L., additional, Bettmann, Michael A., additional, Bezzi, Mario, additional, Bilbao, José I., additional, Bilecen, Deniz, additional, Binkert, Christoph A., additional, Bjarnason, Haraldur, additional, Black, James H., additional, Blei, Francine, additional, Block, Brian M., additional, Bohner, Marc, additional, Bolia, Amman, additional, Boos, Irene, additional, Botti, Charles F., additional, Boyer, Louis, additional, Bozzi, Elena, additional, Bream, Peter Reynolds, additional, Brem, Rachel F., additional, Brodie, Mark F., additional, Brook, Allan L., additional, Brooke, Benjamin S., additional, Brooks, Duncan Mark, additional, Brown, Daniel B., additional, Brown, Karen T., additional, Burnes, James P., additional, Burrows, Patricia E., additional, Campbell, Justin John, additional, Cantwell, Colin P., additional, Carreres, Thierry, additional, Carrino, John A., additional, Cassagnes, Lucie, additional, Chabrot, Pascal, additional, Chamsuddin, Abbas Afif, additional, Chang, Richard, additional, Chawla, Lakhmir S., additional, Chen, Hank (Han) K., additional, Chen, Yung-Hsin, additional, Chewning, Rush Hamilton, additional, Cho, Kenneth H., additional, Chun, Albert K., additional, Clark, Timothy W.I., additional, Collares, Felipe B., additional, Cova, Luca, additional, Crocetti, Laura, additional, Crum, Charles D., additional, Currier, T. Andrew, additional, Czeyda-Pommersheim, Ferenc, additional, Dake, Michael D., additional, Darcy, Michael David, additional, Dean, L. Mark, additional, De Baère, Thierry, additional, Desai, Sudhen B., additional, Diano, Alvaro A., additional, Dixon, Robert G., additional, Dominguez, Pablo D., additional, Dondelinger, Robert F., additional, Dubel, Gregory J., additional, Eskey, Clifford J., additional, Eubig, Jan A., additional, Faintuch, Salomão, additional, Fairman, Ronald N., additional, Fan, Chieh-Min, additional, Fanelli, Fabrizio, additional, Farber, Mark A., additional, Fayad, Laura M., additional, Ford, Peter F., additional, Funaki, Brian, additional, Gabelmann, Andreas, additional, Gagarin, Dmitri A., additional, Gailloud, Philippe, additional, Ganguli, Suvranu, additional, García-García, Lorenzo, additional, Gates, Vanessa L., additional, Geoghegan, Tony, additional, Gervais, Debra A., additional, Geschwind, Jean-Francois H., additional, Gillbert, Matthew B., additional, Given, Mark F., additional, Gobin, Y. Pierre, additional, Goldberg, S. Nahum, additional, Grawbow, Theodore S., additional, Greenberg, Roy K., additional, Grieme, Brian, additional, Hagspiel, Klaus D., additional, Hamilton, Keith W., additional, Hausegger, Klaus A., additional, Heim, Markus H., additional, Heng, Robert C., additional, Hirsch, Joshua A., additional, Todd Hobelmann, J., additional, Holden, Andrew H., additional, Horn, Ed, additional, Idowu, Oluwatoyin R., additional, Ierace, Tiziana, additional, Ignacio, Elizabeth Ann, additional, Irani, Zubin, additional, Izzo, Roberto, additional, Jackson, James E., additional, Jacob, Augustinus L., additional, Jaga, Priya, additional, Joffre, Francis, additional, Johnson, Matthew S., additional, Jones, Chauncey T., additional, Kalva, Sanjeeva P., additional, Kam, Anthony W., additional, Kamath, Sridhar, additional, Kandarpa, Krishna, additional, Katz, Jeffrey M., additional, Kaufman, John A., additional, Kelekis, Alexis D., additional, Keller, Frederick S., additional, Kerlan, Robert K., additional, Kessel, David, additional, Khan, Verena, additional, Khanna, Kanika, additional, Khilnani, Neil M., additional, Kim, Hyun S., additional, Kiyosue, Hiro, additional, Kos, Sebastian, additional, Kumar, Gaurav, additional, Kupershmidt, Maxim, additional, Kurli, Vineel, additional, LaBerge, Jeanne M., additional, Laffy, Pierre-Yves, additional, Lanciego, Carlos, additional, Lang, Elvira V., additional, Lavanga, Arcangelo L., additional, Lawler, Leo Patrick, additional, Lee, Judy M., additional, Lee, Michael J., additional, Lemettre, Thomas, additional, Lencioni, Riccardo, additional, Lim, Yean L., additional, Lewandowski, Robert J., additional, Lewin, John J., additional, Lewis, Curtis Allen, additional, Li, Changqing, additional, Liapi, Eleni, additional, Llinas, Rafael H., additional, Loose, Reinhard, additional, Lyon, Stuart M., additional, Malloy, Patrick C., additional, Manzano, Michael J., additional, Marachet, Marie Agnes, additional, Martin, Jean-Baptiste, additional, Martínez-Cuesta, Antonio, additional, Marx, M. Victoria, additional, Mathis, John M., additional, Matsumoto, Alan H., additional, Mauro, Matthew A., additional, McLennan, Gordon, additional, McPherson, Simon J., additional, McSwain, Hugh, additional, Meranze, Steven Greene, additional, Miller, Todd S., additional, Min, Robert J., additional, Mitchell, Sally E., additional, Moll, Stephan, additional, Mondschein, Jeffrey I., additional, Moore, Laurel E., additional, Morales, Jose Pablo, additional, Morgan, Robert A., additional, Mori, Hiromu, additional, Morrison, Paul R., additional, Müller-Hülsbeck, Stefan, additional, Murphy, Kieran P.J., additional, Murphy, Timothy P., additional, Muto, Mario, additional, Nanjundappa, Aravinda, additional, Narvaez, Juan C., additional, Do Nascimento, Rodrigo Gomes, additional, Nemcek, Albert A., additional, Noor, Ali, additional, Novelli, Luigi, additional, Orgera, Gianluigi, additional, Otal, Philippe, additional, Owen, Randall P., additional, Patel, Aalpen A., additional, Pauls, Sandra, additional, Pearl, Monica Smith, additional, Pelle, Giuseppe, additional, Pellerin, Olivier, additional, Picus, Daniel, additional, Pollak, Jeffrey S., additional, Portugaller, Rupert Horst, additional, Radzik, Batya R., additional, Rathbun, Suman W., additional, Ravel, Anne, additional, Ray, Charles E., additional, Razavi, Mahmood K., additional, Riina, Howard A., additional, Roberts, Anne, additional, Roche, Alain, additional, Roselli, Eric E., additional, Rosen, Robert J., additional, Rossi, Plinio, additional, Rousseau, Hervé, additional, Ruehm, Stefan G., additional, San Millán Ruíz, Diego, additional, Rundback, John H., additional, Saad, Wael E.A., additional, Sabharwal, Tarun, additional, Martinez Salazar, Gloria Maria, additional, Salerno, John Vito, additional, Salem, Riad, additional, Sapoval, Marc R., additional, Sarin, Shawn N., additional, Sharma, Sanjiv, additional, Shekoyan, Ashot, additional, Shin, Ji Hoon, additional, Silva, Naomi N., additional, Silverman, Stuart G., additional, Singh, Charan Kamal, additional, Sofocleous, Constantinos T., additional, Solbiati, Luigi, additional, Solomon, Stephen B., additional, Song, Ho-Young, additional, Soon, Kean H., additional, Sos, Thomas A., additional, Soulen, Michael C., additional, Spies, James B., additional, Stallmeyer, M.J. Bernadette, additional, Stavas, Joseph M., additional, Stokes, LeAnn Simmons, additional, Strecker, Ernst-Peter, additional, Streiff, Michael B., additional, Sudheendra, Deepak, additional, Tan, Walter A., additional, Tang, Elizabeth R., additional, Tehrani, Mahsa R., additional, Thompson, Mathew M., additional, Thompson, Kenneth R., additional, Tran, Gina D., additional, Trerotola, Scott O., additional, Trost, David, additional, Tulsyan, Nirman, additional, Tuncali, Kemal, additional, Turba, Ulku Cenk, additional, Uflacker, Renan, additional, Sonnenberg, Eric van, additional, Vasudevan, Prasanna, additional, Venbrux, Anthony C., additional, Vesely, Tom, additional, Vierasu, Bogdan, additional, Vile, Rachel L., additional, Vivas, Isabel, additional, Vorwerk, Dierk, additional, Waldman, David L., additional, Wallace, Michael J., additional, Watkinson, Anthony F., additional, Waybill, Peter N., additional, Weintraub, Joshua L., additional, White, Robert I., additional, Wholey, Mark H., additional, Winters, Bradford D., additional, Wityk, Robert, additional, Woo, Edward Y., additional, Wood, Bradford J., additional, Wyse, Gerald M., additional, Yoo, Albert J., additional, Yoon, Chang Jin, additional, Yung, Rex C., additional, Zaid, Soraya, additional, Zangan, Steven M., additional, Zawistowski, Grace M., additional, Zeccolini, Fabio, additional, Zeitler, Eberhard, additional, Zhang, Dianbo, additional, Zoarski, Gregg H., additional, and Zollikofer, Christoph L., additional

Published
2010
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15. Liver disease in patients with hereditary hemorrhagic telangiectasia

Author

Garcia-Tsao, Guadalupe, Korzenik, Joshua R., Young, Lawrence, Henderson, Katharine J., Jain, Dhanpat, Byrd, Boyd, Pollak, Jeffrey S., and White, Robert I., Jr.

Subjects
Telangiectasia, Hereditary Hemorrhagic -- Physiological aspects, Liver diseases -- Risk factors
Abstract

Cases of liver involvement in patients with hereditary Rendu-Osler-Weber disease indicate hepatic abnormalities. In a study of 19 patients with this autosomal disorder, clinical manifestations show a variety of conditions that include heart-failure, bile duct disease, and liver hypertension.

Published
2000

17. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Author

Gallione, Carol, Aylsworth, Arthur S., Beis, Jill, Berk, Terri, Bernhardt, Barbara, Clark, Robin D., Clericuzio, Carol, Danesino, Cesare, Drautz, Joanne, Fahl, Jeffrey, Fan, Zheng, Faughnan, Marie E., Ganguly, Arupa, Garvie, John, Henderson, Katharine, Kini, Usha, Leedom, Tracey, Ludman, Mark, Lux, Andreas, Maisenbacher, Melissa, Mazzucco, Sara, Olivieri, Carla, Ploos van Amstel, Johannes K., Prigoda-Lee, Nadia, Pyeritz, Reed E., Reardon, Willie, Vandezande, Kirk, Waldman, Deane J., White, Robert I., Jr., Williams, Charles A., and Marchuk, Douglas A.

Published
2010
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23. Hereditary hemorrhagic telangiectasia

Author

Guttmacher, Alan E., Marchuk, Douglas A., and White, Robert I., Jr.

Subjects
Telangiectasia, Hereditary Hemorrhagic -- Care and treatment
Abstract

Hereditary hemorrhagic telangiectasia may occur in many locations throughout the body and may respond favorably to various treatments. Telangiectasia is an abnormal permanent dilation of normal blood vessels in the skin or other mucous membranes resulting in the mixing of arterial and venous blood in the affected area and creating small red lesions. Hereditary hemorrhagic telangiectasia occurs in the stomach, intestinal tracts, brain, lung, skin, and nose. Treatments currently used for this disorder include laser therapy, transcatheter embolotherapy, vascular surgery, and estrogen therapy. Periodic evaluation for telangiectasia in the lung and brain may be advisable for otherwise affected patients. More precise identification of the genetic links to hereditary hemorrhagic telangiectasia may hold promise for future gene replacement therapy.

Published
1995

39. Some Senior High Schools

Author

BUCK, BENJAMIN F., HJERTSTEDT, WALTER G., WHITE, ROBERT I., MACK, JOSEPHINE, BEERS, GEORGE A., RENNISON, COVERDALE, O'HEARN, DANIEL F., DONIAT, JOHANNA H., COURTENAY, MARY E., KEELER, HARRY, DUNLAP, EDNA C., EDDY, FLORA E., THIELGARD, SOPHIE, and KENNEY, LORETTO D.

Published
1931

44. IR's shift to clinical approach will alter diagnostic practice -- Upsides for all include more diagnostic exams and greater clout with hospital administration

Author

White, Robert I., Jr.

Subjects
Radiology, Interventional -- Technology application, Radiology, Interventional -- Practice, Technology application, Health, Health care industry
Abstract

The rapidly occurring changes in interventional radiology practice and the impetus behind this new clinical practice model have been chronicled.1,2 Striking changes in admitting practices, establishment of IR clinics, and [...]

Published
2002

45. Vein of Galen technique for occluding the aneurysmal sac of pulmonary arteriovenous malformations.

Author

Tal, Michael G., Saluja, Sanjay, Henderson, Katharine J., White, Robert I., and White, Robert I Jr

Subjects
BLOOD vessels, PULMONARY blood vessels, PULMONARY artery, VASCULAR diseases
Abstract

In seven of 255 consecutive patients (2.7%) who underwent pulmonary arteriovenous malformation (PAVM) embolization at our center between July 1, 1996, and July 1, 2000, the feeding artery was considered too short for safe occlusion with use of standard stainless-steel coils or detachable balloons. These patients were successfully treated with use of a modified vein of Galen technique similar to the one used for managing intracranial vein of Galen aneurysms. In this article, the authors report their experience with this technique in safely occluding the aneurysmal sacs of PAVMs in patients with short (<2 cm) feeding pulmonary arteries. [Copyright &y& Elsevier]

Published
2002
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49. Overlapping spectra ofSMAD4mutations in juvenile polyposis (JP) and JP-HHT syndrome

Author

Gallione, Carol, primary, Aylsworth, Arthur S., additional, Beis, Jill, additional, Berk, Terri, additional, Bernhardt, Barbara, additional, Clark, Robin D., additional, Clericuzio, Carol, additional, Danesino, Cesare, additional, Drautz, Joanne, additional, Fahl, Jeffrey, additional, Fan, Zheng, additional, Faughnan, Marie E., additional, Ganguly, Arupa, additional, Garvie, John, additional, Henderson, Katharine, additional, Kini, Usha, additional, Leedom, Tracey, additional, Ludman, Mark, additional, Lux, Andreas, additional, Maisenbacher, Melissa, additional, Mazzucco, Sara, additional, Olivieri, Carla, additional, Ploos van Amstel, Johannes K., additional, Prigoda-Lee, Nadia, additional, Pyeritz, Reed E., additional, Reardon, Willie, additional, Vandezande, Kirk, additional, Waldman, J. Deane, additional, White, Robert I., additional, Williams, Charles A., additional, and Marchuk, Douglas A., additional

Published
2010
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