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https://www.readbyqxmd.com/read/28102958/sliding-window-prior-data-assisted-compressed-sensing-for-mri-tracking-of-lung-tumors
#1
Eugene Yip, Jihyun Yun, Keith Wachowicz, Zsolt Gabos, Satyapal Rathee, B G Fallone
PURPOSE: Hybrid magnetic resonance imaging and radiation therapy devices are capable of imaging in real-time to track intrafractional lung tumor motion during radiotherapy. Highly accelerated magnetic resonance (MR) imaging methods can potentially reduce system delay time and/or improves imaging spatial resolution, and provide flexibility in imaging parameters. Prior Data Assisted Compressed Sensing (PDACS) has previously been proposed as an acceleration method that combines the advantages of 2D compressed sensing and the KEYHOLE view-sharing technique...
January 2017: Medical Physics
https://www.readbyqxmd.com/read/28102909/the-effects-of-hospital-characteristics-on-delays-in-breast-cancer-diagnosis-in-appalachian-communities-a-population-based-study
#2
Christopher J Louis, Jonathan R Clark, Marianne M Hillemeier, Fabian Camacho, Nengliang Yao, Roger T Anderson
PURPOSE: Despite being generally accepted that delays in diagnosing breast cancer are of prognostic and psychological concern, the influence of hospital characteristics on such delays remains poorly understood, especially in rural and underserved areas. However, hospital characteristics have been tied to greater efficiency and warrant further investigation as they may have implications for breast cancer care in these areas. METHODS: Study data were derived from the Kentucky, North Carolina, Ohio, and Pennsylvania state central cancer registries (2006-2008)...
January 19, 2017: Journal of Rural Health
https://www.readbyqxmd.com/read/28102625/neonatal-stridor-and-laryngeal-cyst-which-comes-first
#3
Lucia Marseglia, Gabriella D'Angelo, Pietro Impellizzeri, Vincenzo Salvo, Natalia Catalano, Rocco Bruno, Claudio Galletti, Bruno Galletti, Francesco Galletti, Eloisa Gitto
Neonatal stridor is a rare condition usually caused by laryngomalacia. Congenital laryngeal cyst represents an uncommon cause of stridor in the neonatal population and may be misinterpreted as laryngomalacia, leading to serious morbidity and mortality if diagnosis and treatment are delayed. Herein we report the case of a full-term infant with stridor, feeding problems and failure to thrive. Initially, direct laryngoscopy diagnosed only laryngomalacia. As stridor worsened, however, and respiratory distress appeared, repeat laryngoscopy showed vallecular laryngeal cyst, visible macroscopically...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#4
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#5
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102492/persistent-cognitive-deficits-after-whiplash-injury-a-comparative-study-with-mild-traumatic-brain-injury-patients-and-healthy-volunteers
#6
Kurt Beeckmans, Cleo Crunelle, Silke Van Ingelgom, Karla Michiels, Eva Dierckx, Patrick Vancoillie, Henri Hauman, Bernard Sabbe
In this study, we evaluated persistent cognitive deficits in whiplash injury (WI) patients and compared these to cognitive functioning in mild traumatic brain injury (MTBI) patients and healthy controls (HC). Sixty-one patients suffering from a WI were compared with 57 patients suffering from a MTBI and with 30 HC. They were examined with an extensive neuropsychological test battery assessing attention, memory, and visuospatial and executive functions. In both patient groups, participants showed persistent cognitive symptoms (more than 6 months post-injury)...
January 19, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28102428/plasma-adamts13-activity-and-von-willebrand-factor-antigen-and-activity-in-patients-with-subarachnoid-haemorrhage
#7
Monisha Kumar, Wenjing Cao, Jenny K McDaniel, Huy P Pham, Dheeraj Raju, Kelsey Nawalinski, Suzanne Frangos, David Kung, Eric Zager, Scott E Kasner, Joshua M Levine, X Long Zheng
Increased von Willebrand factor (VWF) and reduced ADAMTS13 activity are associated with arterial thrombosis. This may also be the culprit mechanism implicated in delayed cerebral ischaemia after aneurysmal subarachnoid haemorrhage (SAH). It was our objective to determine plasma VWF and ADAMTS13 in patients with SAH and healthy subjects; and to explore the levels of those markers and outcome after SAH. Forty consecutive patients were enrolled between September 2007 and April 2014 in a pilot study. Plasma samples were collected from SAH patients on post-bleed day (PBD) 0, 1, 3, 5, 7 and 10 and healthy controls...
January 19, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28102025/the-direct-referral-to-endovascular-center-criteria-a-proposal-for-pre-hospital-evaluation-of-acute-stroke-in-the-madrid-stroke-network
#8
J Rodríguez-Pardo, B Fuentes, M Alonso de Leciñana, Á Ximénez-Carrillo, G Zapata-Wainberg, J Álvarez-Fraga, F J Barriga, L Castillo, J Carneado-Ruiz, J Díaz-Guzman, J Egido-Herrero, A de Felipe, J Fernández-Ferro, L Frade-Pardo, Á García-Gallardo, A García-Pastor, A Gil-Núñez, C Gómez-Escalonilla, M Guillán, Y Herrero-Infante, J Masjuan-Vallejo, M Á Ortega-Casarrubios, J Vivancos-Mora, E Díez-Tejedor
BACKGROUND AND PURPOSE: For patients with acute ischaemic stroke due to large-vessel occlusion, it has recently been shown that mechanical thrombectomy (MT) with stent retrievers is better than medical treatment alone. However, few hospitals can provide MT 24 h/day 365 days/year, and it remains unclear whether selected patients with acute stroke should be directly transferred to the nearest MT-providing hospital to prevent treatment delays. Clinical scales such as Rapid Arterial Occlusion Evaluation (RACE) have been developed to predict large-vessel occlusion at a pre-hospital level, but their predictive value for MT is low...
January 19, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28101877/using-a-call-center-to-coordinate-zika-virus-testing-new-york-city-2016
#9
Jasmine Jacobs-Wingo, Ifeoma Ezeoke, Alhaji Saffa, Anna Tate, David Lee, Kimberly Johnson, Katherine Whittemore, Alex Illescas, Austin Collins, Maytal Rand, Jennifer L Rakeman, Jay K Varma, Neil M Vora
BACKGROUND: After local testing criteria for Zika virus expanded to include asymptomatic pregnant women who traveled to areas with active Zika virus transmission while pregnant, the New York City (NYC) Department of Health and Mental Hygiene (DOHMH) experienced a surge in test requests and subsequent testing delays due to factors such as incorrectly completed laboratory requisition forms. The authors describe how DOHMH addressed these issues by establishing the Zika Testing Call Center (ZTCC)...
November 2016: Journal of Emergency Management: JEM
https://www.readbyqxmd.com/read/28101701/early-postoperative-tumor-progression-predicts-clinical-outcome-in-glioblastoma-implication-for-clinical-trials
#10
Andreas Merkel, Dorothea Soeldner, Christina Wendl, Dilek Urkan, Joji B Kuramatsu, Corinna Seliger, Martin Proescholdt, Ilker Y Eyupoglu, Peter Hau, Martin Uhl
Molecular markers define the diagnosis of glioblastoma in the new WHO classification of 2016, challenging neuro-oncology centers to provide timely treatment initiation. The aim of this study was to determine whether a time delay to treatment initiation was accompanied by signs of early tumor progression in an MRI before the start of radiotherapy, and, if so, whether this influences the survival of glioblastoma patients. Images from 61 patients with early post-surgery MRI and a second MRI just before the start of radiotherapy were examined retrospectively for signs of early tumor progression...
January 18, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28101677/emesis-and-nausea-related-to-single-agent-trabectedin-in-ovarian-cancer-patients-a-sub-study-of-the-mito15-project
#11
Marilena Di Napoli, Chiara Della Pepa, Laura Arenare, Giovanni Scambia, Domenica Lorusso, Francesco Raspagliesi, Gabriella Ferrandina, Vanda Salutari, Roberto Sorio, Anna Maria Mosconi, Giorgia Mangili, Lucia Borgato, Stefano Lepori, Angela Salvino, Sandro Pignata, Sabrina Chiara Cecere
The MITO 15 was a prospective, single-arm trial, evaluating trabectedin monotherapy in patients with recurrent ovarian cancer (OC) who were BRCA mutation-carriers or had a BRCAness phenotype. It is largely reported that trabectedin may induce nausea and vomiting but the real emetogenic potential of the drug, in the different schedules, has never been fully described; furthermore, OC patients are known to have an enhanced risk of developing nausea and vomiting due to female gender, abdominal spreading of the disease, and major surgery experienced by most of them...
January 19, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#12
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28101371/a-novel-plp1-mutation-f240l-identified-in-a-patient-with-connatal-type-pelizaeus-merzbacher-disease
#13
Yongping Lu, Keiko Shimojima, Tomoko Sakuma, Sachiko Nakaoka, Toshiyuki Yamamoto
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel PLP1 mutation, F240L, which was inherited from his mother, was identified.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28101311/a-hospital-based-retrospective-comparative-study-of-complications-outcomes-clinical-and-laboratory-parameters-of-malaria-with-and-without-neurological-involvement
#14
Sohaib Ahmad, Nadia Shirazi, Nowneet K Bhat, Minakshi Dhar, Garima Mittal, Manish Mittal, Nidhi Kaeley, Manoj Kumar
BACKGROUND & OBJECTIVES: Classically associated with Plasmodium (P.) falciparum, neurological complications in severe malaria is associated with increased morbidity and mortality. However, reports implicate the long considered benign P. vivax for causing severe malaria as well. We aimed to analyse the cerebral complications in malaria, and study if there is a species-related difference in the presentation and outcomes. METHODS: We retrospectively compared patients with malaria hospitalised from 2009-15, with (n=105) and without (n=1155) neurological involvement regarding outcomes, complications, demographic attributes, clinical features, and laboratory parameters...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28100970/sickle-cell-disease-with-cyanotic-congenital-heart-disease-long-term-outcomes-in-5-children
#15
Glen J Iannucci, Olufolake A Adisa, Matthew E Oster, Michael McConnell, William T Mahle
Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction...
December 2016: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28100629/impact-of-food-alcohol-and-ph-on-modified-release-hydrocortisone-developed-to-treat-congenital-adrenal-hyperplasia
#16
Nayananjani Karunasena, Daniel Margetson, Greg Neal, Martin Whitaker, Richard J Ross
BACKGROUND: We developed a modified-release hydrocortisone, Chronocort®, to replace the cortisol rhythm in patients with congenital adrenal hyperplasia. Food, alcohol and pH affect drug absorption and it is important to assess their impact when replicating a physiological rhythm. SUBJECTS AND METHODS: In vitro dissolution to study impact of alcohol and pH on Chronocort®. A Phase 1, three-period, cross over study in 18 volunteers to assess the impact of food on Chronocort® and to compare bioavailability to immediate-release hydrocortisone...
January 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28100575/atrophic-pityriasis-versicolor-occurring-in-a-patient-with-sj%C3%A3-gren-s-syndrome
#17
Elena Marinello, Stefano Piaserico, Mauro Alaibac
Pityriasis versicolor is one of the most frequent epidermal mycotic infections in the world, but its atrophic variant is rarely described. The aetiology of the atrophy is still unknown, and two main hypotheses have been formulated, one suggesting a correlation with long-term use of topical steroids and the other a delayed type hypersensitivity to epicutaneous antigens derived from components of the fungus. Atrophic pityriasis versicolor is a benign disease, but needs to be distinguished from other more severe skin diseases manifesting with cutaneous atrophy...
January 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28100439/considerations-for-an-access-centered-design-of-the-fever-thermometer-in-low-resource-settings-a-literature-review
#18
REVIEW
Rikako Iwamoto, Ana Laura Rodrigues Santos, Niels Chavannes, Ria Reis, Jan Carel Diehl
BACKGROUND: The lack of adequate information about fever in low-resource settings, its unreliable self-assessment, and poor diagnostic practices may result in delayed care and under-or-overdiagnosis of diseases such as malaria. The mismatches of existing fever thermometers in the context of use imply that the diagnostic tools and connected services need to be studied further to address the challenges of fever-related illnesses and their diagnostics. OBJECTIVE: This study aims to inform a product-service system approach to design a reliable and accessible fever thermometer and connected services, as well as contribute to the identification of innovative opportunities to improve health care in low-resource settings...
January 18, 2017: JMIR Human Factors
https://www.readbyqxmd.com/read/28100252/a-cognitive-electrophysiological-signature-differentiates-amnestic-mild-cognitive-impairment-from-normal-aging
#19
Juan Li, Lucas S Broster, Gregory A Jicha, Nancy B Munro, Frederick A Schmitt, Erin Abner, Richard Kryscio, Charles D Smith, Yang Jiang
BACKGROUND: Noninvasive and effective biomarkers for early detection of amnestic mild cognitive impairment (aMCI) before measurable changes in behavioral performance remain scarce. Cognitive event-related potentials (ERPs) measure synchronized synaptic neural activity associated with a cognitive event. Loss of synapses is a hallmark of the neuropathology of early Alzheimer's disease (AD). In the present study, we tested the hypothesis that ERP responses during working memory retrieval discriminate aMCI from cognitively normal controls (NC) matched in age and education...
January 19, 2017: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/28100251/consensus-guideline-for-the-diagnosis-and-treatment-of-aromatic-l-amino-acid-decarboxylase-aadc-deficiency
#20
REVIEW
Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F Hoffmann, Birgit Assmann, Nenad Blau, Angeles Garcia-Cazorla, Rafael Artuch, Roser Pons, Toni S Pearson, Vincenco Leuzzi, Mario Mastrangelo, Phillip L Pearl, Wang Tso Lee, Manju A Kurian, Simon Heales, Lisa Flint, Marcel Verbeek, Michèl Willemsen, Thomas Opladen
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology...
January 18, 2017: Orphanet Journal of Rare Diseases
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