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419 citation(s) found for "Muñoz, Isabel".

PHIP- a novel candidate breast cancer susceptibility locus on 6q14.1
Jiao, Xiang , Collaborators, NBCS, Investigators, kConFab/AOCS, Aravidis, Christos , Marikkannu, Rajeshwari, Rantala, Johanna, Adamović, Tatjana , Maguire, Paula , Kremeyer, Bárbara , Holst, Susanna von, Kontham, Vinaykumar, Thutkawkorapin, Jessada , Margolin, Sara , Du, Quan , Lundin, Johanna , Michailidou, Kyriaki , Bolla, Manjeet K. , Wang, Qin , Andrulis, Irene L. , Antonenkova, Natalia, Beckmann, Matthias W. , Blomqvist, Carl , Blot, William J. , Bojesen, Stig E. , Brand, Judith S. , Brauch, Hiltrud , Brenner, Hermann , Brüning, Thomas , Burwinkel, Barbara , Chang‐Claude, Jenny , Couch, Fergus J. , Deming-Halverson, Sandra, Dörk, Thilo , Eriksson, Mikael , Fasching, Peter A. , Figueroa, Jonine D. , Flesch‐Janys, Dieter, Flyger, Henrik, Gabrielson, Marike , García‐Closas, Montserrat , González‐Neira, Anna , Guénel, Pascal , Guo, Qi , Gündert, Melanie , Haiman, Christopher A., Hallberg, Emily, Hamann, Ute , Harrington, Patricia, Hooning, Maartje J. , Hopper, John L. , Huang, Guanmengqian, Jakubowska, Anna , Jones, Michael E. , Kerin, Michael J. , Kosma, Veli‐Matti , Kristensen, Vessela N. , Lambrechts, Diether , Lubiński, Jan , Mannermaa, Arto, Meindl, Alfons, Mulligan, Anna Marie , Peto, Julian, Pylkäs, Katri , Radice, Paolo , Rhenius, Valerie , Sawyer, Elinor J. , Schmutzler, Rita K., Seynaeve, Caroline, Shah, Mitul , Simard, Jacques , Southey, Melissa C. , Swerdlow, Anthony J. , Truong, Thérèse , Wendt, Camilla, Winqvist, Robert , Easton, Douglas F. , Lindblom, Annika , Durocher, Francine , Bowtell, David D.L. , Lambrechts, Diether , Dörk, Thilo , Lambrechts, Diether , Swerdlow, Anthony J , Radice, Paolo , Southey, Melissa C , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , García-Closas, Montserrat , Michailidou, Kyriaki , Simard, Jacques , Eriksson, Mikael , Figueroa, Jonine D , Gabrielson, Marike , Bowtell, David D , Collaborators, NBCS, Investigators, kConFab/AOCS, Picelli, Simone , Liu, Tao , Luo, Liping , Dennis, Joe , Lush, Michael J. , Ambrosone, Christine B. , Anton‐Culver, Hoda , Arndt, Volker , Boeckx, Bram , Bonanni, Bernardo , Broeks, Annegien , Cai, Qiuyin , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Devilee, Peter , dos‐Santos‐Silva, Isabel , Giles, Graham G. , Hooning, Maartje J. , Marchand, Loı̈c Le , Mannermaa, Arto, Martens, John W.M. , Meindl, Alfons, Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Schmidt, Marjanka K. , Zheng, Wei , Benı́tez, Javier , Dunning, Alison M. , Pharoah, Paul D.P. , Czene, Kamila , Hall, Per N , Pylkäs, Katri , Lubinski, Jan , Bojesen, Stig E , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J

Oncotarget | December 7, 2017 | Volume: 8 | Issue: 61 | Pages: 102769-102782

10.18632/oncotarget.21800 | PMID 29262523 Get It

Noncardiovascular Disease and Critical Care Delivery in a Contemporary Cardiac and Medical Intensive Care Unit
Liszkowski, Mark , Cercek, Bojan, Goldfarb, Michael , Goldfarb, Michael , Diepen, Sean van , Jentzer, Jacob C. , Pedraza, Isabel

Journal of Intensive Care Medicine | November 29, 2017 | Volume: 34 | Issue: 7 | Pages: 537-543

10.1177/0885066617741873 | PMID 29187011 Get It

Background: Noncardiovascular comorbidities and critical illness are increasing in cardiovascular intensive care units (CICUs). There are limited data comparing critical care delivery, resource utilization, and costs between contemporary CICUs and medical intensive care units (MICUs). Methods: All CICU (n = 6967; 22 748 patient-days) and MICU (n = 10 892; 39 211 patient-days) admissions to Cedars-Sinai Medical Center, a tertiary care academic medical center, between January 2011 and December 2016 were reviewed. Both the CICU and MICU admitted patients for primary cardiovascular or medical conditions during the study period, but not for postoperative surgical care. Results: Patients admitted to the CICU were more frequently older, male, and had more preexisting cardiac disease ( P < .0001). More than one-fifth (21.4%) of CICU patients had a noncardiovascular primary admission diagnosis, compared to 89.2% of MICU patients. Cardiovascular intensive care unit patients had lower Acute Physiology and Chronic Health Evaluation III scores (51.1 [19.9] vs 61.1 [24.9], P < .0001) and shorter median hospital length of stay ( P < .001), but not in-unit stay, as compared to MICU patients. Mechanical ventilation, vasopressors, inotropes, renal replacement therapy, and/or blood transfusion were required in 35.0% of CICU patients compared with 62.2% of MICU patients ( P < .0001). The unit mortality rate was lower for CICU than MICU patients (4.8% vs 13.0%, P < .0001), as was the hospital mortality rate (9.3% vs 21.6%, P < .0001). The standardized mortality ratio was 0.73 for the CICU and 0.86 for the MICU. There was no difference in the mean direct cost of care per patient-day between the CICU and MICU ($4011 USD [376] vs $3990 USD [214], P = .77). Conclusions: The burden of noncardiovascular diseases and the requirement for critical care therapies are high in contemporary CICU patients but remain lower compared to the MICU population. Our findings support the growing complexity of care in tertiary CICUs. Further studies are required to explore the association between critical care delivery and outcomes in this evolving population.
Behind the Curtain: What Makes the Land of OB GYN Appealing to Our Students
Green, Isabel, Riddle, Julia, Green, Isabel C.

Obstetrics & Gynecology | September 22, 2017 | Volume: 130 | Issue: 1 | Pages: 46S-46S

10.1097/01.aog.0000525738.56306.4e Get It

BACKGROUND: In 2005, in response to a decline in residency applications in OBGYN, the American College of Obstetrics and Gynecology Presidential Task Force outlined strategies for attracting medical students to OBGYN. Our program implemented interventions across all years of medical school education, increased efforts to “teach the teachers,” and improve faculty and resident relations with students. Application rates increased, but little is still known about which interventions work. METHODS: This qualitative study received IRB approval. Students applying or recently matched into OB GYN residency programs from the Class of 2014–2016 were included. Eleven participants completed a phone interview exploring why they chose OB GYN, focusing on positive and negatives experiences. The survey instrument was designed to include open ended questions and a Likert-type survey. Grounded theory methodology was used for analysis. Participants received a $50 Starbucks card. RESULTS: Preliminary analysis identified the following themes: 1) potential for a “meaningful” job and a future role in women's health, advocacy for women or empowerment of women; 2) first impressions in the clinical clerkship and “welcoming” teams; 3) content and diversity of our field; 4) impact of supportive mentors in career decisions. DISCUSSION: Participants identify important events that even precede medical school, but commonly highlight finding meaning in their work, and identifying with others that share in their interest and goals as guiding them toward OB GYN.
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Mesman, Romy L.S. , Nicolai, Catharina Von , Ehlén, Åsa , Guidugli, Lucia, Martin, Charlotte , Calléja, Fabienne M.G.R., Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna , Hu, Chunling , Aalfs, Cora M. , Aittomäki, Kristiina, Andrulis, Irene L. , Beckmann, Matthias W. , Benı́tez, Javier , Bogdanova, Natalia , Bojesen, Stig E. , Bolla, Manjeet K. , Børresen‐Dale, Anne‐Lise , Brauch, Hiltrud , Brennan, Paul , Brenner, Hermann , Brouwers, Barbara , Brüning, Thomas , Burwinkel, Barbara , Chang‐Claude, Jenny , Chenevix‐Trench, Georgia , Cheng, Ching‐Yu , Choi, Ji‐Yeob , Collée, J. Margriet, Darabi, Hatef, Dörk, Thilo , Fasching, Peter A. , Figueroa, Jonine D. , Flyger, Henrik, García‐Closas, Montserrat , Glendon, Gord, Guénel, Pascal , Haiman, Christopher A., Hamann, Ute, Hartman, Mikael , Hogervorst, Frans B.L., Hopper, John L. , Jakubowska, Anna , Kang, Daehee , Kosma, Veli‐Matti , Kristensen, Vessela N. , Lai, Kah-Nyin, Lambrechts, Diether , Li, Jingmei , Lindblom, Annika , Lubiński, Jan , Macháčková, Eva , Mannermaa, Arto, Margolin, Sara , Matsuo, Keitaro , Miao, Hui , Michailidou, Kyriaki , Muir, Kenneth , Olswold, Curtis, Oosterwijk, Jan J.C., Osório, Ana , Peterlongo, Paolo , Peto, Julian , Pylkäs, Katri , Radice, Paolo , Rashid, Muhammad Usman , Rhenius, Valerie , Sangrajrang, Suleeporn , Sawyer, Elinor J. , Schmidt, Marjanka K. , Schoemaker, Minouk J. , Seynaeve, Caroline, Shah, Mitul , Shrubsole, Martha J. , Slager, Susan, Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Tomlinson, Ian , Torres, Diana , Truong, Thérèse , Kolk, Lizet E. van der, Wang, Qin, Winqvist, Robert , Wu, Anna H. , Yu, Jyh‐Cherng , Zheng, Wei , Zheng, Ying , Leary, Jennifer, Walker, Logan C. , Foretová, Lenka , Claes, Kathleen , Varesco, Liliana , Moghadasi, Setareh , Easton, Douglas F. , Devilee, Peter , Vrieling, Harry , Monteiro, Álvaro N.A. , Goldgar, David E., Carreira, Aura , Vreeswijk, Maaike P.G. , Bowtell, David D.L. , Lambrechts, Diether , Shimelis, Hermela , Meeks, Huong , Anton‐Culver, Hoda , Arndt, Volker , Broeks, Annegien , Cox, Angela , Cross, Simon S. , Czene, Kamila , Dennis, Joe , dos‐Santos‐Silva, Isabel , Dunning, Alison M. , Giles, Graham G. , Hall, Per N , Hollestelle, Antoinette , Ito, Hidemi , Marchand, Loı̈c Le , Lophatananon, Artitaya , Mannermaa, Arto, Marmé, Frederik , Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Olson, Janet E. , Pharoah, Paul D.P. , Rudolph, Anja , Shen, Chen‐Yang , Shu, Xiao‐Ou , Stram, Daniel O. , Asperen, Christi J. van , Wang, Qin, Fostira, Florentia , Spurdle, Amanda B. , Goldgar, David E., Couch, Fergus J. , Dörk, Thilo , Lambrechts, Diether , Peterlongo, Paolo , Teo, Soo H , Shrubsole, Martha J , Monteiro, Alvaro N , Swerdlow, Anthony J , Vreeswijk, Maaike P G , Radice, Paolo , Claes, Kathleen B M , Southey, Melissa C , Muir, Kenneth , Matsuo, Keitaro , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , Li, Jingmei , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Hu, Chunling , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Bowtell, David D , Pylkäs, Katri , Rashid, Muhammad U , Devilee, Peter , Lubinski, Jan , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Kang, Daehee

Cancer Research | March 10, 2017 | Volume: 77 | Issue: 11 | Pages: 2789-2799

10.1158/0008-5472.can-16-2568 | PMID 28283652 Get It

Abstract Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case–control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A&gt;C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G&gt;A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G&gt;A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G&gt;T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789–99. ©2017 AACR.
Nocardia brasiliensis Infection Complicating Cryptogenic Organizing Pneumonia
Fernandes, Alison M., Mira‐Avendano, Isabel , Sluzevich, Jason C. , Mira-Avendano, Isabel

Case Reports in Pulmonology | February 28, 2017 | Volume: 2017 | Issue: No issue available | Pages: 1-3

10.1155/2017/9567175 | PMID 28348912 Get It

Pulmonary nocardiosis is a severe and uncommon opportunistic infection caused by Nocardia species. We present a patient with cryptogenic organizing pneumonia who was receiving long-term immunosuppressive therapy, whose treatment course was complicated by cutaneous and pulmonary nocardiosis. Tissue cultures confirmed Nocardia brasiliensis. Nocardiosis should be a diagnostic consideration for patients treated with long-term immunosuppression who have worsening pulmonary symptoms and relapsing pustular skin lesions.
Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial
Dyck, Peter J., Dyck, Peter J., Kincaid, John C., Dyck, P. James B. , Chaudhry, Vinay , Goyal, Namita , Alves, Christina , Salhi, Hayet, Wiesman, Janice F. , Labeyrie, Céline , Robinson‐Papp, Jessica , Cardoso, Márcio , Laurá, Matilde , Ruzhansky, Katherine , Cortese, Andrea , Brannagan, Thomas H., Khoury, Julie, Khella, Sami, Ferreira, João , Wang, Annabel K., Pinto, Marcus Vinícius , Ayache, Samar S. , Benson, Merrill D., Coelho, Teresa , Polydefkis, Michael , Gorevic, Peter D., Planté‐Bordeneuve, Violaine , Whelan, Carol , Merlini, Giampaolo , Drachman, Brian, Conceição, Isabel , Klein, Christopher J. , Ackermann, Elizabeth J., Hughes, Steven G. , Mauermann, Michelle L. , Bergemann, R , Lodermeier, Karen A., Davies, Jenny L., Carter, Rickey E. , Litchy, William J. , Dyck, Peter J., Dyck, Peter J., Waddington‐Cruz, Márcia , Berk, John L. , Adams, David , Heitner, Stephen B. , Gertz, Morie A. , Merlini, Giampaolo , Pinto, Marcus V , Klein, Christopher J , Brannagan, T H , Carter, Rickey E , Conceição, Isabel , Mauermann, Michelle L

Muscle & Nerve | January 7, 2017 | Volume: 56 | Issue: 5 | Pages: 901-911

10.1002/mus.25563 | PMID 28063170 Get It

ABSTRACTIntroductionPolyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial.MethodsWe assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis) and its subscores and correlation with disability and health scores.ResultsThe mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests.ConclusionsSpecially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis, broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901–911, 2017
Emerging secondary syphilis presenting as syphilitic hepatitis
Hujoel, Isabel A. , Smyrk, Thomas C. , Poterucha, John J., Rubio-Tapia, Alberto, Rubio‐Tapia, Alberto

Hepatology | December 17, 2016 | Volume: 65 | Issue: 6 | Pages: 2113-2115

10.1002/hep.28974 | PMID 27981616 Get It

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21
Hamdi, Yosr , Collaborators, NBCS, Soucy, Penny, Adoue, Véronique , Michailidou, Kyriaki , Canisius, Sander , Lemaçon, Audrey , Droit, Arnaud , Andrulis, Irene L. , Baynes, Caroline, Blomqvist, Carl , Bogdanova, Natalia , Bojesen, Stig E. , Bolla, Manjeet K. , Børresen‐Dale, Anne‐Lise , Brand, Judith S. , Brauch, Hiltrud , Brenner, Hermann , Burwinkel, Barbara , Chang‐Claude, Jenny , Darabi, Hatef, Devilee, Peter , Dörk, Thilo , Eriksson, Mikael , Fasching, Peter A. , Figueroa, Jonine D. , Flyger, Henrik, García‐Closas, Montserrat , Goldberg, Mark S. , González‐Neira, Anna , Grenaker-Alnæs, Grethe Irene, Guénel, Pascal , Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute, Hallberg, Emily, Hooning, Maartje J. , Jakubowska, Anna , Jones, Michael E. , Kabisch, Maria, Kataja, Vesa , Lambrechts, Diether , Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Maranian, Mel, Margolin, Sara , Marme, Frederik, Neven, Patrick , Olswold, Curtis, Peto, Julian, Plaseska‐Karanfilska, Dijana , Pylkäs, Katri , Radice, Paolo , Sawyer, Elinor J. , Schmidt, Marjanka K. , Shu, Xiao-Ou , Southey, Melissa C. , Swerdlow, Anthony J. , Tollenaar, Rob A.�E.�M. , Tomlinson, Ian , Torres, Diana , Truong, Thérèse , Vachon, Celine M. , Ouweland, Ans M.W. van den, Wang, Qin , Winqvist, Robert , Investigators, kConFab AOCS, Benı́tez, Javier , Chenevix‐Trench, Georgia , Dunning, Alison M. , Kristensen, Vessela N. , Easton, Douglas F. , Pastinen, Tomi , Simard, Jacques , Durocher, Francine , Zheng, Wei , Thorne, Heather , Lambrechts, Diether , Vachon, Celine, Collaborators, NBCS, Anton‐Culver, Hoda , Arndt, Volker , Bonanni, Bernardo , Broeks, Annegien , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Dennis, Joe , dos‐Santos‐Silva, Isabel , Eriksson, Mikael , Giles, Graham G. , Hooning, Maartje J. , Hopper, John L. , Marchand, Loı̈c Le , Mannermaa, Arto , Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Rudolph, Anja , Vachon, Celine M. , Zheng, Wei , Pharoah, Paul D.P. , Hall, Per N , Nord, Silje , Dörk, Thilo , Lambrechts, Diether , Swerdlow, Anthony J , Radice, Paolo , Southey, Melissa C , Dunning, Alison M , Jakubowska, Anna , Jones, Michael E , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Michailidou, Kyriaki , Bogdanova, Natalia V , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Pylkäs, Katri , Devilee, Peter , Lubinski, Jan , Bojesen, Stig E , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Plaseska-Karanfilska, Dijana , Sawyer, Elinor J , Droit, Arnaud

Oncotarget | November 28, 2016 | Volume: 7 | Issue: 49 | Pages: 80140-80163

10.18632/oncotarget.12818 | PMID 27792995 Get It