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https://www.readbyqxmd.com/read/28927784/safety-and-efficacy-of-blinatumomab-in-combination-with-a-tyrosine-kinase-inhibitor-for-the-treatment-of-relapsed-philadelphia-chromosome-positive-leukemia
#1
Rita Assi, Hagop Kantarjian, Nicholas J Short, Naval Daver, Koichi Takahashi, Guillermo Garcia-Manero, Courtney DiNardo, Jan Burger, Jorge Cortes, Nitin Jain, William Wierda, Salim Chamoun, Marina Konopleva, Elias Jabbour
OBJECTIVE: The treatment of Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia has been revolutionized with the introduction of tyrosine kinase inhibitors (TKIs) and the combination of these agents with chemotherapy. Blinatumomab is a bispecific anti-CD3/CD19 monoclonal antibody with clinical activity as single-agent in the relapsed setting and independent of BCR-ABL1 mutational status, including T315I. The combination of blinatumomab with a TKI may further improve outcomes for this high-risk population, including higher eradication of minimal residual disease and minimize the use of chemotherapy...
August 18, 2017: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/28927635/coronary-access-following-tavi-selective-coronary-engagement-using-balloon-assisted-tracking-of-a-guide-catheter-extension
#2
Matthew Jackson, Paul D Williams
performing percutaneous coronary intervention (PCI) following transcatheter aortic valve implantation (TAVI) will become more frequent with the increasing use of TAVI in lower surgical risk populations. The ideal management strategy for coronary artery disease (CAD) in the setting of TAVI is not well defined and CAD is often left untreated prior to TAVI. Engaging the coronary ostia through the TAVI side cells can be challenging; techniques for rapid coronary cannulation, especially in the acute setting, need to be developed...
July 31, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28927471/a-vascular-endothelial-growth-factor-a-genetic-variant-is-associated-with-improved-ventricular-function-and-transplant-free-survival-after-surgery-for-non-syndromic-chd
#3
Constantine D Mavroudis, Daniel Seung Kim, Nancy Burnham, Alexandra H Morss, Jerry H Kim, Amber A Burt, David R Crosslin, Donna M McDonald-McGinn, Elaine H Zackai, Meryl S Cohen, Susan C Nicolson, Thomas L Spray, Ian B Stanaway, Deborah A Nickerson, Mark W Russell, Hakon Hakonarson, Gail P Jarvik, J William Gaynor
BACKGROUND: We have previously shown that the minor alleles of vascular endothelial growth factor A (VEGFA) single-nucleotide polymorphism rs833069 and superoxide dismutase 2 (SOD2) single-nucleotide polymorphism rs2758331 are both associated with improved transplant-free survival after surgery for CHD in infants, but the underlying mechanisms are unknown. We hypothesised that one or both of these minor alleles are associated with better systemic ventricular function, resulting in improved survival...
September 20, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28925994/chimeric-antigen-receptor-t-cell-therapy-assessment-and-management-of-toxicities
#4
REVIEW
Sattva S Neelapu, Sudhakar Tummala, Partow Kebriaei, William Wierda, Cristina Gutierrez, Frederick L Locke, Krishna V Komanduri, Yi Lin, Nitin Jain, Naval Daver, Jason Westin, Alison M Gulbis, Monica E Loghin, John F de Groot, Sherry Adkins, Suzanne E Davis, Katayoun Rezvani, Patrick Hwu, Elizabeth J Shpall
Immunotherapy using T cells genetically engineered to express a chimeric antigen receptor (CAR) is rapidly emerging as a promising new treatment for haematological and non-haematological malignancies. CAR-T-cell therapy can induce rapid and durable clinical responses, but is associated with unique acute toxicities, which can be severe or even fatal. Cytokine-release syndrome (CRS), the most commonly observed toxicity, can range in severity from low-grade constitutional symptoms to a high-grade syndrome associated with life-threatening multiorgan dysfunction; rarely, severe CRS can evolve into fulminant haemophagocytic lymphohistiocytosis (HLH)...
September 19, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/28924035/stat1-modulates-tissue-wasting-or-overgrowth-downstream-from-pdgfr%C3%AE
#5
Chaoyong He, Shayna C Medley, Jang Kim, Chengyi Sun, Hae Ryong Kwon, Hiromi Sakashita, Yair Pincu, Longbiao Yao, Danielle Eppard, Bojie Dai, William L Berry, Timothy M Griffin, Lorin E Olson
Platelet-derived growth factor (PDGF) acts through two conserved receptor tyrosine kinases: PDGFRα and PDGFRβ. Gain-of-function mutations in human PDGFRB have been linked recently to genetic diseases characterized by connective tissue wasting (Penttinen syndrome) or overgrowth (Kosaki overgrowth syndrome), but it is unclear whether PDGFRB mutations alone are responsible. Mice with constitutive PDGFRβ signaling caused by a kinase domain mutation (D849V) develop lethal autoinflammation. Here we used a genetic approach to investigate the mechanism of autoinflammation in Pdgfrb(+/D849V) mice and test the hypothesis that signal transducer and activator of transcription 1 (STAT1) mediates this phenotype...
September 18, 2017: Genes & Development
https://www.readbyqxmd.com/read/28922658/impact-of-minimally-invasive-surfactant-therapy-in-preterm-infants-at-29-32-weeks-gestation
#6
Peter A Dargaville, Sanoj K M Ali, Hamish D Jackson, Christopher Williams, Antonio G De Paoli
BACKGROUND: Most preterm infants born at 29-32 weeks gestation now avoid intubation in early life, and thus lack the usual conduit through which exogenous surfactant is given if needed. OBJECTIVE: The aim of this work was to examine whether a technique of minimally invasive surfactant therapy used selectively at 29-32 weeks gestation would improve outcomes. METHODS: We studied the impact of selective administration of surfactant (poractant alfa 100-200 mg/kg) by thin catheter in infants with respiratory distress syndrome on continuous positive airway pressure (CPAP)...
September 19, 2017: Neonatology
https://www.readbyqxmd.com/read/28922189/acr-acnm-practice-parameter-for-the-performance-of-dopamine-transporter-dat-single-photon-emission-computed-tomography-spect-imaging-for-movement-disorders
#7
Rathan M Subramaniam, Kirk A Frey, Christopher H Hunt, Gustavo A Mercier, Lilja B Solnes, Patrick M Colletti, Yang Lu, Bital Savir-Baruch, Hadyn T Williams
This American College of Radiology and American College of Nuclear Medicine joint clinical practice parameter is for performance of dopamine transporter single photon emission computed tomography (SPECT) imaging, for patients with movement disorders. Parkinsonian syndrome (PS) consists of a group of neurodegenerative diseases including Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB). Accurate diagnosis of PS is critical for clinical management...
September 15, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28920784/treatment-success-in-three-andean-bears-tremarctos-ornatus-with-alopecia-syndrome-using-oclacitinib-maleate-apoquel%C3%A2
#8
Gabby J Drake, Tim Nuttall, Javier López, William Magnone, Antoine Leclerc, Romain Potier, Alexis Lécu, Maëlle Guézénec, Lydia Kolter, Amélie Nicolau, Karin Lemberger, Didier Pin, Sallie B Cosgrove
Andean bear (Tremarctos ornatus) alopecia syndrome (ABAS) commonly affects captive bears, particularly sexually mature females. ABAS is characterized by bilaterally symmetrical predominantly flank alopecia with or without profound pruritus and secondary bacterial and Malassezia infections. There is no effective treatment and severely affected bears have been euthanized. This paper describes the successful management of ABAS in three female Andean bears. Skin biopsies and cytology revealed a mixed dermal inflammatory infiltrate, alopecia, hyperkeratosis, and Malassezia dermatitis...
September 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28919049/perioperative-outcomes-of-syndromic-paraganglioma-and-pheochromocytoma-resection-in-patients-with-von-hippel-lindau-disease-multiple-endocrine-neoplasia-type-2-or-neurofibromatosis-type-1
#9
James J Butz, Qi Yan, Travis J McKenzie, Toby N Weingarten, Alexandre N Cavalcante, Irina Bancos, William F Young, Darrell R Schroeder, David P Martin, Juraj Sprung
BACKGROUND: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. METHODS: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. RESULTS: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19)...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28916725/characterization-of-enhancers-and-the-role-of-the-transcription-factor-klf7-in-regulating-corneal-epithelial-differentiation
#10
Rachel Herndon Klein, William Hu, Ghaidaa Kashgari, Ziguang Lin, Tuyen Nguyen, Michael Doan, Bogi Andersen
During tissue development, transcription factors bind regulatory DNA regions called enhancers, often located at great distances from the genes they regulate, to control gene expression. The enhancer landscape during embryonic stem cell differentiation has been well characterized. By contrast, little is known about the shared and unique enhancer regulatory mechanisms in different ectodermally derived epithelial cells. Here, we use ChIP-seq to identify domains enriched for histone marks H3K4me3, H3K4me1, and H3K27ac, and define for the first time the super enhancers and typical enhancers active in primary human corneal epithelial cells...
September 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28916189/phosphoinositide-5-phosphatase-activities-control-cell-motility-in-glioblastoma-two-phosphoinositides-pi-4-5-p2-and-pi-3-4-p2-are-involved
#11
REVIEW
Ana Raquel Ramos, William's Elong Edimo, Christophe Erneux
Inositol polyphosphate 5-phosphatases or phosphoinositide 5-phosphatases (PI 5-phosphatases) are enzymes that can act on soluble inositol phosphates and/or phosphoinositides (PIs). Several PI 5-phosphatases have been linked to human genetic diseases, in particular the Lowe protein or OCRL which is mutated in the Lowe syndrome. There are 10 different members of this family and 9 of them can use PIs as substrate. One of these substrates, PI(3,4,5)P3 binds to specific PH domains and recruits as effectors specific proteins to signaling complexes...
September 5, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#12
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28912179/classification-epidemiology-and-global-burden-of-cardiomyopathies
#13
REVIEW
William J McKenna, Barry J Maron, Gaetano Thiene
In the past 25 years, major advances were achieved in the nosography of cardiomyopathies, influencing the definition and taxonomy of this important chapter of cardiovascular disease. Nearly, 50% of patients dying suddenly in childhood or adolescence or undergoing cardiac transplantation are affected by cardiomyopathies. Novel cardiomyopathies have been discovered (arrhythmogenic, restrictive, and noncompacted) and added to update the World Health Organization classification. Myocarditis has also been named inflammatory cardiomyopathy...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28912005/proximal-radial-artery-arteriovenous-fistula-for-hemodialysis-vascular-access
#14
William C Jennings, Alexandros Mallios, Nasir Mushtaq
OBJECTIVE: This study reviewed our experience with proximal radial artery-based arteriovenous fistulas (PRA-AVFs) for hemodialysis vascular access, evaluating characteristics of the patients, functional patency, risk of steal syndrome, survival of the patient, and technical considerations. METHODS: We retrospectively analyzed our database of consecutive patients, identifying those individuals with a PRA-AVF created during a 12-year period. In addition to physical examination, all patients underwent ultrasound vessel mapping by the operating surgeon, identifying the PRA-AVF configuration and outflow target most likely to succeed...
September 11, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28910146/management-of-ards-and-refractory-hypoxemia-a-multicenter-observational-study
#15
Erick H Duan, Neill Kj Adhikari, Frederick D'Aragon, Deborah J Cook, Sangeeta Mehta, Waleed Alhazzani, Ewan Goligher, Emmanuel Charbonney, Yaseen M Arabi, Tim Karachi, Alexis F Turgeon, Lori Hand, Qi Zhou, Peggy Austin, Jan Friedrich, Francois Lamontagne, François Lauzier, Rakesh Patel, John Muscedere, Richard Hall, Pierre Aslanian, Thomas Piraino, Martin Albert, Sean M Bagshaw, Mike Jacka, Gordon Wood, William Henderson, Delbert Dorscheid, Niall D Ferguson, Maureen O Meade
RATIONALE: Clinicians' current practice patterns in the management of acute respiratory distress syndrome (ARDS) and refractory hypoxemia are not well described. OBJECTIVES: To describe mechanical ventilation strategies and treatment adjuncts for adults with ARDS including refractory hypoxemia. METHODS: Prospective cohort study (March 2014-February 2015) of mechanically ventilated adults with moderate-to-severe ARDS requiring FiO2 ≥0.50 in 24 ICUs...
September 14, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28904635/does-orthopaedic-surgery-improve-quality-of-life-and-function-in-patients-with-mucopolysaccharidoses
#16
N Williams, D Challoumas, D M Eastwood
PURPOSE: Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders associated with involvement of multiple organs along with a generalised skeletal dysplasia. Both haematopoetic stem cell transplant and enzyme replacement therapy have improved the outlook for patients while surgery remains high-risk and there is little information on clinical or functional outcome to justify many of the surgical procedures performed. This paper aims to summarise the orthopaedic surgical procedures in MPS patients for which quality of life (QoL) and functional data are available and to describe additional QoL and functional measurement tools of relevance to the assessment of orthopaedic outcomes in MPS...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28902845/clinical-and-epidemiologic-characteristics-of-dengue-and-other-etiologic-agents-among-patients-with-acute-febrile-illness-puerto-rico-2012-2015
#17
Kay M Tomashek, Olga D Lorenzi, Doris A Andújar-Pérez, Brenda C Torres-Velásquez, Elizabeth A Hunsperger, Jorge Luis Munoz-Jordan, Janice Perez-Padilla, Aidsa Rivera, Gladys E Gonzalez-Zeno, Tyler M Sharp, Renee L Galloway, Mindy Glass Elrod, Demetrius L Mathis, M Steven Oberste, W Allan Nix, Elizabeth Henderson, Jennifer McQuiston, Joseph Singleton, Cecilia Kato, Carlos García Gubern, William Santiago-Rivera, Jesús Cruz-Correa, Robert Muns-Sosa, Juan D Ortiz-Rivera, Gerson Jiménez, Ivonne E Galarza, Kalanthe Horiuchi, Harold S Margolis, Luisa I Alvarado
Identifying etiologies of acute febrile illnesses (AFI) is challenging due to non-specific presentation and limited availability of diagnostics. Prospective AFI studies provide a methodology to describe the syndrome by age and etiology, findings that can be used to develop case definitions and multiplexed diagnostics to optimize management. We conducted a 3-year prospective AFI study in Puerto Rico. Patients with fever ≤7 days were offered enrollment, and clinical data and specimens were collected at enrollment and upon discharge or follow-up...
September 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28899917/activity-dependent-dysfunction-in-visual-and-olfactory-sensory-systems-in-mouse-models-of-down-syndrome
#18
Christopher M William, Lubna Saqran, Matthew A Stern, Charles L Chiang, Scott Herrick, Aziz Rangwala, Mark W Albers, Matthew P Frosch, Bradley T Hyman
Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. This phenotype is similar to that of transgenic mice that express amyloid precursor protein (APP), which is duplicated in DS and in Ts65DN mice; however, normalizing APP gene copy number in Ts65Dn mice fails to rescue plasticity...
September 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28895491/preliminary-validation-of-the-whodas-2-0-for-mild-traumatic-brain-injury
#19
Deborah Snell, Grant L Iverson, William Panenka, Noah D Silverberg
The purpose of this study is to examine the reliability, factor structure, and validity of the World Health Organization Disability Assessment Schedule (WHODAS 2.0 12-item version) in a sample of patients who were slow to recover from a mild traumatic brain injury (MTBI). Participants were 79 adults with MTBI recruited from one of four specialty outpatient clinics in Vancouver, Canada. The WHODAS 2.0 12-item version is a disease-non-specific measure of disability representing six International Classification of Disability, Functioning, and Health activity and participation domains including cognition, mobility, self-care, interpersonal functioning, life activities, and participation...
September 12, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28894924/cyclical-vomiting-syndrome-secondary-to-a-chiari-i-malformation-a-case-report
#20
William L White, Veejay Bagga, David I Campbell, Anthony R Hart, Shungu Ushewokunze
BACKGROUND: Cyclical vomiting syndrome is a disorder characterised by recurrent episodes of profuse vomiting. There are no cases in the literature on the management of children with presenting with cyclical vomiting syndrome and a Chiari malformation type I. DISCUSSION: We report the case of a 12-year-old child diagnosed with cyclical vomiting syndrome and a Chiari malformation type I. The patient received symptomatic relief following a craniocervical decompression...
September 11, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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