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https://www.readbyqxmd.com/read/29050386/brain-monoamine-oxidase-b-and-a-in-human-parkinsonian-dopamine-deficiency-disorders
#1
Junchao Tong, Gausiha Rathitharan, Jeffrey H Meyer, Yoshiaki Furukawa, Lee-Cyn Ang, Isabelle Boileau, Mark Guttman, Oleh Hornykiewicz, Stephen J Kish
See Jellinger (doi:10.1093/awx190) for a scientific commentary on this article. The enzyme monoamine oxidases (B and A subtypes, encoded by MAOB and MAOA, respectively) are drug targets in the treatment of Parkinson's disease. Inhibitors of MAOB are used clinically in Parkinson's disease for symptomatic purposes whereas the potential disease-modifying effect of monoamine oxidase inhibitors is debated. As astroglial cells express high levels of MAOB, the enzyme has been proposed as a brain imaging marker of astrogliosis, a cellular process possibly involved in Parkinson's disease pathogenesis as elevation of MAOB in astrocytes might be harmful...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#2
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29049429/correlation-of-handheld-reflectance-confocal-microscopy-with-radial-video-mosaicing-for-margin-mapping-of-lentigo-maligna-and-lentigo-maligna-melanoma
#3
Oriol Yélamos, Miguel Cordova, Nina Blank, Kivanc Kose, Stephen W Dusza, Erica Lee, Milind Rajadhyaksha, Kishwer S Nehal, Anthony M Rossi
Importance: The management of lentigo maligna (LM) and LM melanoma (LMM) is challenging because of extensive subclinical spread and its occurrence on cosmetically sensitive areas. Reflectance confocal microscopy (RCM) improves diagnostic accuracy for LM and LMM and can be used to delineate their margins. Objectives: To evaluate whether handheld RCM with radial video mosaicing (HRCM-RV) offers accurate presurgical assessment of LM and LMM margins. Design, Setting, and Participants: This prospective study included consecutive patients with biopsy-proven LM and LMM located on the head and neck area who sought consultation for surgical management from March 1, 2016, through March 31, 2017, at the Dermatology Service of the Memorial Sloan Kettering Cancer Center...
October 11, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/29049425/comparison-of-internal-medicine-and-general-surgery-residents-assessments-of-risk-of-postsurgical-complications-in-surgically-complex-patients
#4
James M Healy, Kimberly A Davis, Kevin Y Pei
Importance: Anticipating postsurgical complications is a vital physician skill, particularly when counseling surgically complex patients on their risks of intervention. Although internists and surgeons both counsel patients on surgical risks, it is uncertain who is better equipped to accurately anticipate surgical complications. Objective: To examine how internal medicine and general surgery trainees compare in their assessment of risk of surgically complex patients...
October 11, 2017: JAMA Surgery
https://www.readbyqxmd.com/read/29049144/the-etiology-of-neuronal-development-in-craniosynostosis-a-working-hypothesis
#5
Eric D Brooks, Joel S Beckett, Jenny Yang, Andrew T Timberlake, Alexander H Sun, Carolyn Chuang, John A Persing
Craniosynostosis is one of the most common craniofacial conditions treated by neurologic and plastic surgeons. In addition to disfigurement, children with craniosynostosis experience significant cognitive dysfunction later in life. Surgery is performed in infancy to correct skull deformity; however, the field is at a crossroads regarding the best approach for correction. Since the cause of brain dysfunction in these patients has remained uncertain, the role and type of surgery might have in attenuating the later-observed cognitive deficits through impact on the brain has been unclear...
October 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29049042/atrial-fibrillation-occurring-transiently-with-stress
#6
William F McIntyre, Stuart J Connolly, Jeff S Healey
PURPOSE OF REVIEW: Atrial fibrillation may be detected in the setting of an acute stressor, such as medical illness or surgery. It is uncertain if atrial fibrillation detected in these settings (AFOTS: atrial fibrillation occurring transiently with stress) is secondary to a reversible trigger or is simply paroxysmal atrial fibrillation. This distinction is critical for clinicians, who must decide if AFOTS can be dismissed as a reversible phenomenon, or if it signals the need for chronic therapy; in particular, anticoagulation...
October 18, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29046282/clonality-in-context-hematopoietic-clones-in-their-marrow-environment
#7
James N Cooper, Neal S Young
Clonal hematopoiesis occurs normally, especially with aging, and in the setting of disease, not only myeloid cancers but in bone marrow failure. In cancer, malignant clones are characterized by recurrent somatic mutations in specific sets of genes, but the direct relationship of such mutations to leukemogenesis, when they occur in an apparently healthy older individual or after recovery from immune aplastic anemia, is uncertain. Here we emphasize a view of clonal evolution that stresses natural selection over deterministic ontogeny, and we stress the selective role of the marrow's, and organism's, environment...
October 18, 2017: Blood
https://www.readbyqxmd.com/read/29045610/high-sensitivity-cardiac-troponin-i-and-risk-of-heart-failure-in-patients-with-suspected-acute-coronary-syndrome-a-cohort-study
#8
Dominik Stelzle, Anoop S V Shah, Atul Anand, Fiona E Strachan, Andrew R Chapman, Martin A Denvir, Nicholas L Mills, David A McAllister
Aims: Heart failure may occur following acute myocardial infarction, but with the use of high-sensitivity cardiac troponin assays we increasingly diagnose patients with minor myocardial injury. Whether troponin concentrations remain a useful predictor of heart failure in patients with acute coronary syndrome is uncertain. Methods and results: We identified all consecutive patients (n = 4748) with suspected acute coronary syndrome (61 ± 16 years, 57% male) presenting to three secondary and tertiary care hospitals...
July 19, 2017: European Heart Journal. Quality of Care & Clinical Outcomes
https://www.readbyqxmd.com/read/29045609/stakeholder-perspectives-on-the-optimizing-patient-transfers-impacting-medical-quality-and-improving-symptoms-transforming-institutional-care-optimistic-project
#9
Mary Ersek, Susan E Hickman, Anne C Thomas, Brittany Bernard, Kathleen T Unroe, Suzanne Meeks
Background and Objectives: The need to reduce burdensome and costly hospitalizations of frail nursing home residents is well documented. The Optimizing Patient Transfers, Impacting Medical Quality, and Improving Symptoms: Transforming Institutional Care (OPTIMISTIC) project achieved this reduction through a multicomponent collaborative care model. We conducted an implementation-focused project evaluation to describe stakeholders' perspectives on (a) the most and least effective components of the intervention; (b) barriers to implementation; and (c) program features that promoted its adoption...
October 17, 2017: Gerontologist
https://www.readbyqxmd.com/read/29045429/preclinical-antivenom-efficacy-testing-reveals-potentially-disturbing-deficiencies-of-snakebite-treatment-capability-in-east-africa
#10
Robert A Harrison, George O Oluoch, Stuart Ainsworth, Jaffer Alsolaiss, Fiona Bolton, Ana-Silvia Arias, José-María Gutiérrez, Paul Rowley, Stephen Kalya, Hastings Ozwara, Nicholas R Casewell
BACKGROUND: Antivenom is the treatment of choice for snakebite, which annually kills an estimated 32,000 people in sub-Saharan Africa and leaves approximately 100,000 survivors with permanent physical disabilities that exert a considerable socioeconomic burden. Over the past two decades, the high costs of the most polyspecifically-effective antivenoms have sequentially reduced demand, commercial manufacturing incentives and production volumes that have combined to create a continent-wide vacuum of effective snakebite therapy...
October 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29044790/acute-appendicitis
#11
REVIEW
Mark D Stringer
Acute appendicitis is the most common reason for abdominal surgery in children. Luminal obstruction of the appendix progresses to suppurative inflammation and perforation, which causes generalised peritonitis or an appendix mass/abscess. Classical features include periumbilical pain that migrates to the right iliac fossa, anorexia, fever, and tenderness and guarding in the right iliac fossa. Atypical presentations are particularly common in preschool children. A clinical diagnosis is possible in most cases, after a period of active observation if necessary; inflammatory markers and an ultrasound scan are useful investigations when the diagnosis is uncertain...
October 17, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29044468/matchmaker-exchange
#12
Nara L M Sobreira, Harindra Arachchi, Orion J Buske, Jessica X Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O B Jacobsen, Melissa A Haendel, Kym M Boycott, Ada Hamosh, Heidi L Rehm
In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism; variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of inheritance investigated; and inadequate communication between clinicians and basic scientists with knowledge of particular genes, proteins, or biological systems...
October 18, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/29043428/magnetic-resonance-imaging-for-clinical-management-of-rectal-cancer-updated-recommendations-from-the-2016-european-society-of-gastrointestinal-and-abdominal-radiology-esgar-consensus-meeting
#13
Regina G H Beets-Tan, Doenja M J Lambregts, Monique Maas, Shandra Bipat, Brunella Barbaro, Luís Curvo-Semedo, Helen M Fenlon, Marc J Gollub, Sofia Gourtsoyianni, Steve Halligan, Christine Hoeffel, Seung Ho Kim, Andrea Laghi, Andrea Maier, Søren R Rafaelsen, Jaap Stoker, Stuart A Taylor, Michael R Torkzad, Lennart Blomqvist
OBJECTIVES: To update the 2012 ESGAR consensus guidelines on the acquisition, interpretation and reporting of magnetic resonance imaging (MRI) for clinical staging and restaging of rectal cancer. METHODS: Fourteen abdominal imaging experts from the European Society of Gastrointestinal and Abdominal Radiology (ESGAR) participated in a consensus meeting, organised according to an adaptation of the RAND-UCLA Appropriateness Method. Two independent (non-voting) Chairs facilitated the meeting...
October 17, 2017: European Radiology
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#14
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29042797/er-positive-breast-cancer-patients-with-more-than-three-positive-nodes-or-grade-3-tumors-are-at-high-risk-of-late-recurrence-after-5-year-adjuvant-endocrine-therapy
#15
Fangbin Song, Jianbing Zhang, Shanbao Li, Junyi Wu, Tao Jin, Jun Qin, Ye Wang, Min Wang, Junming Xu
PURPOSE: Currently, although several clinical trials available give strong suggestions that extension of endocrine therapy has benefits, the risk level at which patients may benefit from extended endocrine therapy remains uncertain. This study aimed to identify the proportion of patients at a substantial risk of late recurrence after 5-year adjuvant endocrine therapy. PATIENTS AND METHODS: We reviewed 1,056 female patients with primary breast cancer who underwent curative resection between January 2006 and December 2011...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29040711/diagnosis-and-outcome-of-biopsies-of-indeterminate-lesions-of-the-cavernous-sinus-and-meckel-s-cave-a-retrospective-case-series-in-85-patients
#16
Joshua D Hughes, Joseph Kapurch, Jamie J Van Gompel, Fredric B Meyer, Bruce E Pollock, John Atkinson, Michael J Link
BACKGROUND: When clinical presentation, laboratory studies, or imaging cannot diagnose cavernous sinus (CS) and/or Meckel's cave (MC) lesions, biopsy may be necessary. OBJECTIVE: To review our institutional series of biopsies of indeterminate CS and MC lesions. METHODS: Records from January 1994 to June 2016 were searched for biopsied indeterminate CS and MC lesions. We defined indeterminate as having an atypical imaging appearance or a broad differential and the need for tissue for definitive diagnosis...
October 11, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29040626/a-dose-response-meta-analysis-of-chronic-arsenic-exposure-and-incident-cardiovascular-disease
#17
Katherine A Moon, Shilpi Oberoi, Aaron Barchowsky, Yu Chen, Eliseo Guallar, Keeve E Nachman, Mahfuzar Rahman, Nazmul Sohel, Daniela D'Ippoliti, Timothy J Wade, Katherine A James, Shohreh F Farzan, Margaret R Karagas, Habibul Ahsan, Ana Navas-Acien
Background: Consistent evidence at high levels of water arsenic (≥100 µg/l), and growing evidence at low-moderate levels (<100 µg/l), support a link with cardiovascular disease (CVD). The shape of the dose-response across low-moderate and high levels of arsenic in drinking water is uncertain and critical for risk assessment. Methods: We conducted a systematic review of general population epidemiological studies of arsenic and incident clinical CVD (all CVD, coronary heart disease (CHD) and stroke) with three or more exposure categories...
September 23, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29040570/cumulative-live-birth-rates-following-miscarriage-in-an-initial-complete-cycle-of-ivf-a-retrospective-cohort-study-of-112-549-women
#18
Natalie J Cameron, Siladitya Bhattacharya, Sohinee Bhattacharya, David J McLernon
STUDY QUESTION: In women undergoing IVF/ICSI who miscarry in their first complete cycle, what is the chance of a live birth in subsequent complete cycles, and how does this compare with those whose first complete cycle ends with live birth or without a pregnancy? SUMMARY ANSWER: After two further complete cycles of IVF/ICSI, women who had miscarried or had a live birth in their first complete cycle had a higher chance of live birth (40.9 and 49.0%, respectively) than those who had no pregnancies (30...
September 20, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29038887/mutations-in-inf2-may-be-associated-with-renal-histology-other-than-focal-segmental-glomerulosclerosis
#19
Anja K Büscher, Nora Celebi, Peter F Hoyer, Hanns-Georg Klein, Stefanie Weber, Julia Hoefele
BACKGROUND: In 2010, INF2 mutations were associated with autosomal-dominant focal segmental glomerulosclerosis (FSGS), clinically presenting with moderate proteinuria in adolescence. However, in the meantime, cases with more severe clinical courses have been described, including progression to end-stage renal disease (ESRD) during childhood. INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton...
October 6, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29038273/pharmacokinetic-modelling-of-voriconazole-to-develop-an-alternative-dosing-regimen-in-children
#20
Silke Gastine, Thomas Lehrnbecher, Carsten Müller, Fedja Farowski, Peter Bader, Judith Ullmann-Moskovits, Oliver A Cornely, Andreas H Groll, Georg Hempel
Background. The pharmacokinetic variability of voriconazole in immunocompromised children is high and adequate exposure, particularly in the first days of therapy, is uncertain.Methods A population pharmacokinetic model was developed to explore VCZ exposure in plasma after alternative dosing regimens. Concentration data were obtained from a pediatric phase II study. Non-linear mixed effects modelling was used to develop the model. Monte Carlo simulations were performed to test an array of three times daily (TID) intravenous dosing regimens in children 2 to 12 years of age...
October 16, 2017: Antimicrobial Agents and Chemotherapy
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