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Mari Romano

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https://www.readbyqxmd.com/read/29753161/engagement-with-inspire-an-online-program-for-hematopoietic-cell-transplantation-survivors
#1
Karen L Syrjala, Marie-Laure Crouch, Wendy M Leisenring, Mary E D Flowers, Samantha B Artherholt, Allison Stover Fiscalini, Eleni Romano, Joan M Romano, Paul J Martin, Jean C Yi
PURPOSE: In a secondary analysis of a randomized controlled trial (RCT), we examined engagement with INSPIRE, a personalized online program for hematopoietic cell transplantation (HCT) survivors that focused on cancer-related distress, depression, fatigue, and health care needs. METHODS: We approached all adult, 3-18 year HCT survivors treated for hematologic malignancy, without relapse or second cancer in the previous 2 years, for participation in an RCT with either immediate or delayed access to INSPIRE...
May 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29730827/an-online-randomized-controlled-trial-with-or-without-problem-solving-treatment-for-long-term-cancer-survivors-after-hematopoietic-cell-transplantation
#2
Karen L Syrjala, Jean C Yi, Samantha B Artherholt, Joan M Romano, Marie-Laure Crouch, Allison S Fiscalini, Mark T Hegel, Mary E D Flowers, Paul J Martin, Wendy M Leisenring
PURPOSE: This randomized controlled trial examines the efficacy of INSPIRE, an INternet-based Survivorship Program with Information and REsources, with or without problem-solving treatment (PST) telehealth calls, for survivors after hematopoietic cell transplantation (HCT). METHODS: All adult survivors who met eligibility criteria were approached for consent. Participants completed patient-reported outcomes at baseline and 6 months. Those with baseline impaired scores on one or more of the outcomes were randomized to INSPIRE, INSPIRE + PST, or control with delayed INSPIRE access...
May 5, 2018: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/29659895/identification-of-differential-transcriptional-patterns-in-primary-and-secondary-hyperparathyroidism
#3
Samira M Sadowski, Marc Pusztaszeri, Marie-Claude Brulhart-Meynet, Volodymyr Petrenko, Claudio De Vito, Jonathan Sobel, Céline Delucinge-Vivier, Electron Kebebew, Romano Regazzi, Jacques Philippe, Frédéric Triponez, Charna Dibner
Context: Hyperparathyroidism is associated with hypercalcemia and the excess of parathyroid hormone secretion. However, the alterations in molecular pattern of functional genes during parathyroid tumorigenesis have not been unraveled. We aimed at establishing transcriptional patterns of normal and pathological parathyroid glands (PG) in sporadic primary and secondary hyperparathyroidism (HPT1, 2). Objective: To evaluate dynamic alterations in molecular patterns as a function of the type of PG pathology, a comparative transcript analysis was conducted in subgroups of healthy samples, sporadic HPT1 adenoma and hyperplasia, and HPT2...
April 5, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#4
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29567797/human-alpi-deficiency-causes-inflammatory-bowel-disease-and-highlights-a-key-mechanism-of-gut-homeostasis
#5
Marianna Parlato, Fabienne Charbit-Henrion, Jie Pan, Claudio Romano, Rémi Duclaux-Loras, Marie-Helene Le Du, Neil Warner, Paola Francalanci, Julie Bruneau, Marc Bras, Mohammed Zarhrate, Bernadette Bègue, Nicolas Guegan, Sabine Rakotobe, Nathalie Kapel, Paola De Angelis, Anne M Griffiths, Karoline Fiedler, Eileen Crowley, Frank Ruemmele, Aleixo M Muise, Nadine Cerf-Bensussan
Herein, we report the first identification of biallelic-inherited mutations in ALPI as a Mendelian cause of inflammatory bowel disease in two unrelated patients. ALPI encodes for intestinal phosphatase alkaline, a brush border metalloenzyme that hydrolyses phosphate from the lipid A moiety of lipopolysaccharides and thereby drastically reduces Toll-like receptor 4 agonist activity. Prediction tools and structural modelling indicate that all mutations affect critical residues or inter-subunit interactions, and heterologous expression in HEK293T cells demonstrated that all ALPI mutations were loss of function...
March 22, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29423566/clinical-and-neuroimaging-features-of-autosomal-recessive-spastic-paraplegia-35-spg35-case-reports-new-mutations-and-brief-literature-review
#6
Francesco Mari, Beatrice Berti, Alessandro Romano, Jacopo Baldacci, Riccardo Rizzi, M Grazia Alessandrì, Alessandra Tessa, Elena Procopio, Anna Rubegni, Charles Marques Lourenḉo, Alessandro Simonati, Renzo Guerrini, Filippo Maria Santorelli
Spastic paraplegia 35 (SPG35) is a recessive condition characterized by childhood onset, progressive course, complicated by dystonia, dysarthria, cognitive impairment, and epilepsy. Mutations in the FA2H gene have been described in several families, leading to the proposal of a single entity, named fatty acid hydrolase-associated neurodegeneration (FAHN). Several reports have described a polymorphic radiological picture with white matter lesions of various degrees and a distinct form of neurodegeneration with brain iron accumulation...
February 8, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29322352/supraclavicular-catheterization-of-the-brachiocephalic-vein-a-way-to-prevent-or-reduce-catheter-maintenance-related-complications-in-children
#7
Flora Habas, Julien Baleine, Christophe Milési, Clémentine Combes, Marie-Noëlle Didelot, Sara Romano-Bertrand, Delphine Grau, Sylvie Parer, Catherine Baud, Gilles Cambonie
Placement of a central venous catheter (CVC) in the brachiocephalic vein (BCV) via the ultrasound (US)-guided supraclavicular approach was recently described in children. We aimed to determine the CVC maintenance-related complications at this site compared to the others (i.e., the femoral, the subclavian, and the jugular). We performed a retrospective data collection of prospectively registered data on CVC in young children hospitalized in a pediatric intensive care unit (PICU) during a 4-year period (May 2011 to May 2015)...
March 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29209020/a-genotype-first-approach-identifies-an-intellectual-disability-overweight-syndrome-caused-by-phip-haploinsufficiency
#8
Sandra Jansen, Alexander Hoischen, Bradley P Coe, Gemma L Carvill, Hilde Van Esch, Daniëlle G M Bosch, Ulla A Andersen, Carl Baker, Marijke Bauters, Raphael A Bernier, Bregje W van Bon, Hedi L Claahsen-van der Grinten, Jozef Gecz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J Larsen, Carlo Marcelis, Fiona McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke H Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J C Stevens, Connie T Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A Veltman, Han G Brunner, Heather C Mefford, Corrado Romano, Lisenka E L M Vissers, Evan E Eichler, Bert B A de Vries
Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene and linking these to consistent (endo)phenotypes to establish disease causality. We have performed a MIP (molecular inversion probe)-based targeted re-sequencing study in 3,275 individuals with intellectual disability (ID) to facilitate a genotype-first approach for 24 genes previously implicated in ID...
January 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29107288/identification-of-islet-enriched-long-non-coding-rnas-contributing-to-%C3%AE-cell-failure-in-type-2-diabetes
#9
Anna Motterle, Sonia Gattesco, Marie-Line Peyot, Jonathan Lou S Esguerra, Ana Gomez-Ruiz, D Ross Laybutt, Patrick Gilon, Frédéric Burdet, Mark Ibberson, Lena Eliasson, Marc Prentki, Romano Regazzi
OBJECTIVE: Non-coding RNAs constitute a major fraction of the β-cell transcriptome. While the involvement of microRNAs is well established, the contribution of long non-coding RNAs (lncRNAs) in the regulation of β-cell functions and in diabetes development remains poorly understood. The aim of this study was to identify novel islet lncRNAs differently expressed in type 2 diabetes models and to investigate their role in β-cell failure and in the development of the disease. METHODS: Novel transcripts dysregulated in the islets of diet-induced obese mice were identified by high throughput RNA-sequencing coupled with de novo annotation...
November 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/29096156/recurrence-dynamics-of-breast-cancer-according-to-baseline-body-mass-index
#10
RANDOMIZED CONTROLLED TRIAL
Elia Biganzoli, Christine Desmedt, Marco Fornili, Evandro de Azambuja, Nathalie Cornez, Fernand Ries, Marie-Thérèse Closon-Dejardin, Joseph Kerger, Christian Focan, Angelo Di Leo, Jean-Marie Nogaret, Christos Sotiriou, Martine Piccart, Romano Demicheli
BACKGROUND: In cancer follow-up, in addition to the evaluation of survival probabilities, there is a fundamental need of assessing recurrence dynamics for optimal disease management. Although the time-dependent effect of the oestrogen receptor (ER) status of the tumour has already been described, so far no factor has proven to disentangle the multi-peak behaviour observed for breast cancer recurrences. Here, we aimed at investigating whether adiposity at diagnosis, reflected by increased patient's body mass index (BMI), could be associated with breast cancer recurrence patterns over time after primary cancer therapy...
December 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/29047216/uteroplacental-insufficiency-in-rats-induces-renal-apoptosis-and-delays-nephrogenesis-completion
#11
J S M Cuffe, J F Briffa, S Rosser, A L Siebel, T Romano, D H Hryciw, M E Wlodek, K M Moritz
AIM: Uteroplacental insufficiency in rats reduces nephron endowment, leptin concentrations and programmes cardiorenal disease in offspring. Cross-fostering growth-restricted (Restricted) offspring onto a mother with normal lactation restores leptin concentrations and nephron endowment. This study aimed to determine whether the reduced nephron endowment in Restricted offspring is due to delayed glomerular formation and dysregulation of renal genes regulating branching morphogenesis, apoptosis or leptin signalling...
March 2018: Acta Physiologica
https://www.readbyqxmd.com/read/29044225/microrna-181b-is-increased-in-cystic-fibrosis-cells-and-impairs-lipoxin-a-4-receptor-dependent-mechanisms-of-inflammation-resolution-and-antimicrobial-defense
#12
Anna Maria Pierdomenico, Sara Patruno, Marilina Codagnone, Felice Simiele, Veronica Cecilia Mari, Roberto Plebani, Antonio Recchiuti, Mario Romano
The involvement of microRNA (miR) in cystic fibrosis (CF) pathobiology is rapidly emerging. We previously documented that miR-181b controls the expression of the ALX/FPR2 receptor, which is recognized by the endogenous proresolution ligand, lipoxin (LX)A4 . Here, we examined whether the miR-181b-ALX/FPR2 circuit was altered in CF. We examined human airways epithelial cells, normal (16HBE14o-), carrying the ΔF508 mutation (CFBE41o-) or corrected for this mutation (CFBE41o-/CEP-CFTR wt 6.2 kb), as well as monocyte-derived macrophages (MΦs) from CF patients...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28978512/maternal-stress-does-not-exacerbate-long-term-bone-deficits-in-female-rats-born-growth-restricted-with-differential-effects-on-offspring-bone-health
#13
Kristina Anevska, Jean N Cheong, John D Wark, Mary E Wlodek, Tania Romano
Females born growth restricted have poor adult bone health. Stress exposure during pregnancy increases risk of pregnancy complications. We determined whether maternal stress exposure in growth-restricted females exacerbates long-term maternal and offspring bone phenotypes. On gestational day 18, bilateral uterine vessel ligation (restricted) or sham (control) surgery was performed on Wistar-Kyoto rats. At 4 mo, control and restricted females were mated and allocated to unstressed or stressed pregnancies. Stressed pregnancies had physiological measurements performed; unstressed females were not handled...
February 1, 2018: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28934402/a-world-health-organization-field-trial-assessing-a-proposed-icd-11-framework-for-classifying-patient-safety-events
#14
Alan J Forster, Burnand Bernard, Saskia E Drösler, Yana Gurevich, James Harrison, Jean-Marie Januel, Patrick S Romano, Danielle A Southern, Vijaya Sundararajan, Hude Quan, Saskia E Vanderloo, Harold A Pincus, William A Ghali
Objective: To assess the utility of the proposed World Health Organization (WHO)'s International Classification of Disease (ICD) framework for classifying patient safety events. Setting: Independent classification of 45 clinical vignettes using a web-based platform. Study participants: The WHO's multi-disciplinary Quality and Safety Topic Advisory Group. Main outcome measure(s): The framework consists of three concepts: harm, cause and mode...
August 1, 2017: International Journal for Quality in Health Care
https://www.readbyqxmd.com/read/28811185/the-effect-of-receptor-status-on-mastectomy-and-contralateral-prophylactic-mastectomy-rates-in-early-stage-invasive-breast-carcinoma
#15
Sunil W Dutta, Daniel M Trifiletti, Surbhi Grover, Kara D Romano, Einsley-Marie Janowski, Shayna L Showalter
BACKGROUND: There is an established relationship between hormone receptor (HR; estrogen and/or progesterone receptors) status, HER2 status, and locoregional recurrence. The purpose of this study was to analyze how HR and HER2 receptor status have influenced the surgical management trends among patients with early stage breast cancer. PATIENTS AND METHODS: The National Cancer Database was queried for patients with cT1 to cT3, cN0, and cM0 breast carcinoma from 2004 to 2012...
June 29, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/28734488/clinical-fellowship-for-an-innovative-integrated-bsn-phd-program-an-academic-and-practice-partnership
#16
Madelyne Z Greene, Mary Kate FitzPatrick, Jean Romano, Linda H Aiken, Therese S Richmond
Opportunities for research-focused doctoral education must be available to nurses early in their careers in order to ensure the further development of nursing science. Early entry into the research doctorate through an integrated BSN-PhD program is one innovative approach. This approach highlights the value of integrating post-licensure clinical training into the doctoral curriculum. To better prepare innovative nurse scientists early in their careers we developed a clinical nurse fellowship within an integrated BSN-PhD program in partnership with an affiliated health system...
July 2017: Journal of Professional Nursing: Official Journal of the American Association of Colleges of Nursing
https://www.readbyqxmd.com/read/28716477/2017-aha-acc-key-data-elements-and-definitions-for-ambulatory-electronic-health-records-in-pediatric%C3%A2-and-congenital-cardiology-a-report-of-the-american-college-of-cardiology-american-heart-association-task-force-on-clinical-data-standards
#17
Jeffrey R Boris, Marie J Béland, Lisa J Bergensen, Steven D Colan, Joanna Dangel, Curtis J Daniels, Christopher Davis, Allen D Everett, Rodney Franklin, J William Gaynor, Darryl T Gray, Jennifer C Hirsch-Romano, Jeffrey P Jacobs, Marshall Jacobs, Howard Jeffries, Otto Nils Krogmann, Edwin A Lomotan, Leo Lopez, Ariane Marelli, Gerard R Martin, G Paul Matherne, Constantine Mavroudis, Ken McCardle, Gail D Pearson, Geoffrey Rosenthal, John S Scott, Gerald A Serwer, Stephen S Seslar, Robert Shaddy, Timothy Slesnick, David F Vener, Henry L Walters, Paul M Weinberg
No abstract text is available yet for this article.
August 22, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28710153/2017-aha-acc-key-data-elements-and-definitions-for-ambulatory-electronic-health-records-in-pediatric-and-congenital-cardiology-a-report-of-the-american-college-of-cardiology-american-heart-association-task-force-on-clinical-data-standards
#18
REVIEW
Jeffrey R Boris, Marie J Béland, Lisa J Bergensen, Steven D Colan, Joanna Dangel, Curtis J Daniels, Christopher Davis, Allen D Everett, Rodney Franklin, J William Gaynor, Darryl T Gray, Jennifer C Hirsch-Romano, Jeffrey P Jacobs, Marshall Jacobs, Howard Jeffries, Otto Nils Krogmann, Edwin A Lomotan, Leo Lopez, Ariane Marelli, Gerard R Martin, G Paul Matherne, Constantine Mavroudis, Ken McCardle, Gail D Pearson, Geoffrey Rosenthal, John S Scott, Gerald A Serwer, Stephen S Seslar, Robert Shaddy, Timothy Slesnick, David F Vener, Henry L Walters, Paul M Weinberg
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/28706119/disparities-and-trends-in-door-to-needle-time-the-fl-pr-cresd-study-florida-puerto-rico-collaboration-to-reduce-stroke-disparities
#19
Sofia A Oluwole, Kefeng Wang, Chuanhui Dong, Maria A Ciliberti-Vargas, Carolina M Gutierrez, Li Yi, Jose G Romano, Enmanuel Perez, Brittany Ann Tyson, Maranatha Ayodele, Negar Asdaghi, Hannah Gardener, David Z Rose, Enid J Garcia, Juan Carlos Zevallos, Dianne Foster, Mary Robichaux, Salina P Waddy, Ralph L Sacco, Tatjana Rundek
BACKGROUND AND PURPOSE: In the United States, about half of acute ischemic stroke patients treated with tPA (tissue-type plasminogen activator) receive treatment within 60 minutes of hospital arrival. We aimed to determine the proportion of patients receiving tPA within 60 minutes (door-to-needle time [DTNT] ≤60) and 45 minutes (DTNT ≤45) of hospital arrival by race/ethnicity and sex and to identify temporal trends in DTNT ≤60 and DTNT ≤45. METHODS: Among 65 654 acute ischemic stroke admissions in the National Institute of Neurological Disorders and Stroke-funded FL-PR CReSD study (Florida-Puerto Rico Collaboration to Reduce Stroke Disparities) from 2010 to 2015, we included 6181 intravenous tPA-treated cases (9...
August 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28679016/stroke-hospital-characteristics-in-the-florida-puerto-rico-collaboration-to-reduce-stroke-disparities-study
#20
COMPARATIVE STUDY
Maria A Ciliberti-Vargas, Hannah Gardener, Kefeng Wang, Chuanhui Dong, Li Yi, Jose G Romano, Mary Robichaux, Salina P Waddy, Ulises Nobo, Sandra Diaz-Acosta, Tatjana Rundek, Michael F Waters, Ralph L Sacco
OBJECTIVES: Although disparities in stroke care and outcomes have been well documented nationally, state-based registries to monitor acute stroke care in Florida (FL) and Puerto Rico (PR) have not been established. The FL-PR Collaboration to Reduce Stroke Disparities (CReSD) was developed to evaluate race-ethnicity and regional disparities in stroke care performance. The objective of this study was to assess and compare hospital characteristics within a large quality improvement registry to identify characteristics associated with better outcomes for acute ischemic stroke care...
July 2017: Southern Medical Journal
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