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https://www.readbyqxmd.com/read/28105554/engagement-with-genetic-information-and-uptake-of-genetic-testing-the-role-of-trust-and-personal-cancer-history
#1
Megan C Roberts, Jennifer M Taber, William M Klein
We used national survey data to (1) determine the extent to which individuals trust the sources from which they are most likely to receive information about cancer-related genetic tests (BRCA1/2, Lynch syndrome), (2) examine how level of trust for sources of genetic information might be related to cancer-related genetic testing uptake, and (3) determine whether key factors, such as cancer history and numeracy, moderate the latter association. We used cross-sectional data from the Health Information National Trends Survey...
January 20, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28101821/prevalence-and-characteristics-of-patients-with-suspected-inherited-renal-cell-cancer-application-of-the-acmg-nsgc-genetic-referral-guidelines-to-patient-cohorts
#2
Hong Truong, Sarah E Hegarty, Leonard G Gomella, William K Kelly, Edouard J Trabulsi, Costas D Lallas, Veda N Giri
Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001-2011, n = 105,754) and in our institutional cancer registry (2004-2013, n = 998)...
January 19, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28100513/loss-of-ranbp2-in-motor-neurons-causes-the-disruption-of-nucleocytoplasmic-and-chemokine-signaling-and-proteostasis-of-hnrnph3-and-mmp28-and-the-development-of-amyotrophic-lateral-sclerosis-als-like-syndromes
#3
Kyoung-In Cho, Dosuk Yoon, Sunny Qiu, Zachary Danziger, Warren M Grill, William C Wetsel, Paulo A Ferreira
The pathogenic drivers of sporadic and familial motor neuron disease (MND), such ALS, are unknown. MND impair the Ran GTPase cycle, which controls nucleocytoplasmic transport, ribostasis and proteostasis; however, cause-effect mechanisms of Ran GTPase modulators in motoneuron pathobiology are heretofore elusive. The cytosolic and peripheral nucleoporin, Ranbp2, is a critical regulator of the Ran GTPase cycle and proteostasis of neurological disease-prone substrates, but the roles of Ranbp2 in motoneuron biology and disease remain unknown...
January 18, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28099298/low-dose-aspirin-is-effective-chemoprophylaxis-against-clinically-important-venous-thromboembolism-following-total-joint-arthroplasty-a-preliminary-analysis
#4
Javad Parvizi, Ronald Huang, Camilo Restrepo, Antonia F Chen, Matthew S Austin, William J Hozack, Jess H Lonner
BACKGROUND: Aspirin is a safe and effective prophylaxis for the prevention of venous thromboembolism following total joint arthroplasty. The optimal dose of aspirin prophylaxis is unknown. Our hypothesis was that lower-dose aspirin is as effective as higher-dose aspirin for the prevention of venous thromboembolism and is associated with fewer gastrointestinal side effects. METHODS: In a prospective, crossover study, we analyzed 4,651 primary total joint arthroplasty cases performed from July 2013 to June 2015...
January 18, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28099273/making-the-most-of-hypomethylating-agents-in-myelodysplastic-syndrome
#5
Geetika Bhatt, William Blum
PURPOSE OF REVIEW: Hypomethylating agents (HMA) are the preferred therapy for patients with higher risk myelodysplastic syndromes (MDS) and an alternative therapeutic strategy for older patients with acute myeloid leukemia. These agents have improved both survival and quality of life, but results overall remain poor. The purpose of this review is to highlight recent developments in clinical research with HMA in MDS/acute myeloid leukemia over the last year. RECENT FINDINGS: Combination of HMA with B-cell lymphoma-2 inhibitors, hedgehog inhibitors, and a variety of other agents are underway, as are further studies with reformulated HMA that have more favorable pharmacokinetics (including oral bioavailability)...
January 17, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28099219/a-review-of-the-clinical-utility-of-intravascular-ultrasound-ivus-and-optical-coherence-tomography-oct-in-the-assessment-and-treatment-of-coronary-artery-disease
#6
Stephen Daniel Matthews, William H Frishman
Coronary artery disease (CAD) remains one of the leading causes of morbidity and mortality in the United States. As a medical society, we continue to search for ways to better treat CAD and prevent acute coronary syndrome (ACS). As it stands, only statins and anti-platelets agents have been proven to significantly reduce the occurrence of ACS. A histopathological understanding of the pathogenesis of ACS has provided insight into the importance of plaque morphology. Therefore, it has been proposed that increasing the ability to detect true vulnerable, "at-risk" lesions, would foster the use of percutaneous coronary intervention as a means for the prevention of ACS...
January 11, 2017: Cardiology in Review
https://www.readbyqxmd.com/read/28099212/dysfunctional-tear-syndrome-dry-eye-disease-and-associated-tear-film-disorders-new-strategies-for-diagnosis-and-treatment
#7
Mark S Milner, Kenneth A Beckman, Jodi I Luchs, Quentin B Allen, Richard M Awdeh, John Berdahl, Thomas S Boland, Carlos Buznego, Joseph P Gira, Damien F Goldberg, David Goldman, Raj K Goyal, Mitchell A Jackson, James Katz, Terry Kim, Parag A Majmudar, Ranjan P Malhotra, Marguerite B McDonald, Rajesh K Rajpal, Tal Raviv, Sheri Rowen, Neda Shamie, Jonathan D Solomon, Karl Stonecipher, Shachar Tauber, William Trattler, Keith A Walter, George O Waring, Robert J Weinstock, William F Wiley, Elizabeth Yeu
Dysfunctional tear syndrome (DTS) is a common and complex condition affecting the ocular surface. The health and normal functioning of the ocular surface is dependent on a stable and sufficient tear film. Clinician awareness of conditions affecting the ocular surface has increased in recent years because of expanded research and the publication of diagnosis and treatment guidelines pertaining to disorders resulting in DTS, including the Delphi panel treatment recommendations for DTS (2006), the International Dry Eye Workshop (DEWS) (2007), the Meibomian Gland Dysfunction (MGD) Workshop (2011), and the updated Preferred Practice Pattern guidelines from the American Academy of Ophthalmology pertaining to dry eye and blepharitis (2013)...
January 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28098859/dna-damage-response-defect-in-williams-beuren-syndrome
#8
David Guenat, Giuseppe Merla, Eric Deconinck, Christophe Borg, Pierre-Simon Rohrlich
Williams-Beuren syndrome (WBS, no. OMIM 194050) is a rare multisystem genetic disorder caused by a microdeletion on chromosome 7q11.23 and characterized by cardiovascular malformations, mental retardation, and a specific facial dysmorphism. Recently, we reported that a series of non‑Hodgkin's lymphoma occurs in children with WBS and thus hypothesized that a predisposition to cancer may be associated with this genetic disorder. The aim of the present study was to ascertain the role played by three genes hemizygously deleted in WBS (RFC2, GTF2I and BAZ1B) in DNA damage response pathways...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28098766/single-electrode-deep-brain-stimulation-with-dual-targeting-at-dual-frequency-for-the-treatment-of-chronic-pain-a-case-series-and-review-of-the-literature
#9
REVIEW
Milo Hollingworth, Hugh P Sims-Williams, Anthony E Pickering, Neil Barua, Nikunj K Patel
Deep Brain Stimulation (DBS) has been used to target many deep brain structures for the treatment of chronic pain. The periaqueductal grey and periventricular grey (PAG/PVG) is an effective target but results are variable, sometimes short-lived or subject to tolerance. The centromedian intra-laminar parafascicular complex (CMPf) modulates medial pain pathways and CMPf DBS may address the affective aspects of pain perception. Stimulation of multiple deep brain targets may offer a strategy to optimize management of patients with complex pain symptomatology...
January 13, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28097779/the-mcgill-interactive-pediatric-oncogenetic-guidelines-an-approach-to-identifying-pediatric-oncology-patients-most-likely-to-benefit-from-a-genetic-evaluation
#10
Catherine Goudie, Hallie Coltin, Leora Witkowski, Stephanie Mourad, David Malkin, William D Foulkes
Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical guidelines exist to identify children at high risk of having germline mutations. The McGill Interactive Pediatric OncoGenetic Guidelines project aims to create a validated pediatric guideline in the form of a smartphone/tablet application using algorithms to process clinical data and help determine whether to refer a child for genetic assessment. This paper discusses the initial stages of the project, focusing on its overall structure, the methodology underpinning the algorithms, and the upcoming algorithm validation process...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28096993/like-father-like-daughter-inherited-cutis-aplasia-occurring-in-a-family-with-marfan-syndrome-a-case-report
#11
Yasmin Florence Khodeja Islam, Charles A Williams, Jennifer Jane Schoch, Israel David Andrews
We present the case of a newborn with co-occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father. This case details a previously unreported mutation in Marfan syndrome and describes a novel coinheritance of Marfan syndrome and ACC.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28096388/competition-of-calcified-calmodulin-n-lobe-and-pip2-to-an-lqt-mutation-site-in-kv7-1-channel
#12
William Sam Tobelaim, Meidan Dvir, Guy Lebel, Meng Cui, Tal Buki, Asher Peretz, Milit Marom, Yoni Haitin, Diomedes E Logothetis, Joel Alan Hirsch, Bernard Attali
Voltage-gated potassium 7.1 (Kv7.1) channel and KCNE1 protein coassembly forms the slow potassium current IKS that repolarizes the cardiac action potential. The physiological importance of the IKS channel is underscored by the existence of mutations in human Kv7.1 and KCNE1 genes, which cause cardiac arrhythmias, such as the long-QT syndrome (LQT) and atrial fibrillation. The proximal Kv7.1 C terminus (CT) binds calmodulin (CaM) and phosphatidylinositol-4,5-bisphosphate (PIP2), but the role of CaM in channel function is still unclear, and its possible interaction with PIP2 is unknown...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28095146/phase-i-first-in-human-study-of-venetoclax-in-patients-with-relapsed-or-refractory-non-hodgkin-lymphoma
#13
Matthew S Davids, Andrew W Roberts, John F Seymour, John M Pagel, Brad S Kahl, William G Wierda, Soham Puvvada, Thomas J Kipps, Mary Ann Anderson, Ahmed Hamed Salem, Martin Dunbar, Ming Zhu, Franklin Peale, Jeremy A Ross, Lori Gressick, Monali Desai, Su Young Kim, Maria Verdugo, Rod A Humerickhouse, Gary B Gordon, John F Gerecitano
Purpose B-cell leukemia/lymphoma-2 (BCL-2) overexpression is common in many non-Hodgkin lymphoma (NHL) subtypes. A phase I trial in patients with NHL was conducted to determine safety, pharmacokinetics, and efficacy of venetoclax, a selective, potent, orally bioavailable BCL-2 inhibitor. Patients and Methods A total of 106 patients with relapsed or refractory NHL received venetoclax once daily until progressive disease or unacceptable toxicity at target doses from 200 to 1,200 mg in dose-escalation and safety expansion cohorts...
January 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28092990/in-hospital-statin-underutilization-among-high-risk-patients-delayed-uptake-of-the-2013-cholesterol-guidelines-in-a-u-s-cohort
#14
Subeer K Wadia, Mark Belkin, Kelsey Chow, Jonathan Nattiv, Andrew Appis, Steven B Feinstein, Kim Allan Williams
OBJECTIVES: Clinician utilization of the 2013 cholesterol lowering guidelines remains variable and unknown. We sought to examine statin prescribing patterns and compare rates among specialists who treat high-risk cardiovascular patients admitted to the hospital. METHODS: We retrospectively (via chart review) examined four specialty groups: (i) Cardiology, (ii) Cardiovascular or Vascular (CV) Surgery, (iii) Neurology, and (iv) Internal Medicine. Adult patients were included based on a discharge diagnosis of acute coronary syndrome, coronary artery bypass graft surgery, carotid endarterectomy, acute ischemic stroke, transient ischemic attack, or high-risk chest pain...
January 17, 2017: Hospital Practice (Minneapolis)
https://www.readbyqxmd.com/read/28092926/effect-of-gravity-and-microgravity-on-intracranial-pressure
#15
Justin S Lawley, Lonnie G Petersen, Erin J Howden, Satyam Sarma, William K Cornwell, Rong Zhang, Louis A Whitworth, Michael A Williams, Benjamin D Levine
Astronauts have recently been discovered to have impaired vision, with a presentation that resembles syndromes of elevated intracranial pressure (ICP). This syndrome is considered the most mission critical medical problem identified in the past decade of manned spaceflight. We recruited five men and three women who had an Ommaya reservoir inserted for the delivery of prophylactic central nervous system chemotherapy, but were free of their malignant disease for at least 1 year. ICP was assessed by placing a fluid-filled 25 ga butterfly needle into the Ommaya reservoir...
January 16, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28092684/biallelic-mutations-in-the-3-exonuclease-toe1-cause-pontocerebellar-hypoplasia-and-uncover-a-role-in-snrna-processing
#16
Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Tim L Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H Davies, Linda de Meirleir, Hulya Kayserili, Umut Altunoglu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Çağlayan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T Christesen, Maria Kibaek, Kimberly A Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B Dobyns, Neil C Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B Gabriel, Murat Gunel, Enza Maria Valente, Marie-Cecile Nassogne, Eric J Bennett, Gene W Yeo, Frank Baas, Jens Lykke-Andersen, Joseph G Gleeson
Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg(2+)-dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurodegeneration and ambiguous genitalia. We studied 12 human families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which encodes an unconventional deadenylase...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28092296/qualitative-analysis-of-parental-observations-on-quality-of-life-in-australian-children-with-down-syndrome
#17
Nada Murphy, Amy Epstein, Helen Leonard, Elise Davis, Dinah Reddihough, Andrew Whitehouse, Peter Jacoby, Jenny Bourke, Katrina Williams, Jenny Downs
OBJECTIVE: There are many challenges to health, functioning, and participation for children with Down syndrome; yet, the quality-of-life (QOL) domains important for this group have never been clearly articulated. This study investigated parental observations to identify QOL domains in children with Down syndrome and determined whether domains differed between children and adolescents. METHODS: The sample comprised 17 families whose child with Down syndrome was aged 6 to 18 years...
January 12, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28089836/delayed-csf-rhinorrhea-after-gamma-knife-radiosurgery-with-or-without-preceding-transsphenoidal-resection-for-pituitary-pathology
#18
Avital Perry, Christopher S Graffeo, William R Copeland, Kathryn M Van Abel, Matthew L Carlson, Bruce E Pollock, Michael J Link
BACKGROUND: Skull base cerebrospinal fluid (CSF) leak after gamma knife radiosurgery (GKRS) is a very rare complication. In patients who were treated with both GKRS and transsphenoidal resection (TSR) for pituitary lesions, early CSF leak occurs at a comparable rate to the general TSR population (4%). Delayed CSF leak occurring more than a year after TSR, GKRS, or dual therapy, is exceedingly rare. METHODS: Retrospective chart review and review of the literature RESULTS: We present two cases of delayed CSF leak following GKRS to treat pituitary adenoma...
January 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28088702/the-social-nature-of-overimitation-insights-from-autism-and-williams-syndrome
#19
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
When imitating novel actions, typically developing preschoolers often copy components of the demonstration that are unrelated to the modeled action's goal, a phenomenon known as 'overimitation'. According to the social motivation account, overimitation fulfills social affiliation motives (i.e., the imitator's drive to experience social connectedness with the demonstrator and the social context). Conversely, according to the social-cognitive account, overimitation reflects overattribution of causal relevance (i...
January 12, 2017: Cognition
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#20
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
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