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https://www.readbyqxmd.com/read/29453452/systematic-and-stochastic-influences-on-the-performance-of-the-minion-nanopore-sequencer-across-a-range-of-nucleotide-bias
#1
Raga Krishnakumar, Anupama Sinha, Sara W Bird, Harikrishnan Jayamohan, Harrison S Edwards, Joseph S Schoeniger, Kamlesh D Patel, Steven S Branda, Michael S Bartsch
Emerging sequencing technologies are allowing us to characterize environmental, clinical and laboratory samples with increasing speed and detail, including real-time analysis and interpretation of data. One example of this is being able to rapidly and accurately detect a wide range of pathogenic organisms, both in the clinic and the field. Genomes can have radically different GC content however, such that accurate sequence analysis can be challenging depending upon the technology used. Here, we have characterized the performance of the Oxford MinION nanopore sequencer for detection and evaluation of organisms with a range of genomic nucleotide bias...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453419/a-randomized-controlled-study-of-a-consent-intervention-for-participating-in-an-nih-genome-sequencing-study
#2
Erin Turbitt, Paola P Chrysostomou, Holly L Peay, Alexis R Heidlebaugh, Lawrence M Nelson, Barbara B Biesecker
To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter...
February 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29453330/interphysician-agreement-on-subclassification-of-myocardial-infarction
#3
Anton Gard, Bertil Lindahl, Gorav Batra, Nermin Hadziosmanovic, Marcus Hjort, Karolina Elisabeth Szummer, Tomasz Baron
OBJECTIVE: The universal definition of myocardial infarction (MI) differentiates MI due to oxygen supply/demand mismatch (type 2) from MI due to plaque rupture (type 1) as well as from myocardial injuries of non-ischaemic or multifactorial nature. The purpose of this study was to investigate how often physicians agree in this classification and what factors lead to agreement or disagreement. METHODS: A total of 1328 patients diagnosed with MI at eight different Swedish hospitals 2011 were included...
February 16, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29453214/renal-nutcracker-syndrome-in-a-young-lady-unusual-findings-and-endovascular-management
#4
Manish Taneja, Benjamin Soo Yeng Chua, Kanika Daga
Nutcracker syndrome (NCS) is caused by compression of left renal vein (LRV), usually between the aorta and the superior mesenteric artery (SMA). This can lead to obstruction of flow into the inferior vena cava and secondary left renal venous hypertension. Despite potential serious consequences, diagnosing NCS is often challenging, circuitous and commonly delayed. We report an extremely unique case of NCS. A 34-year-old woman presented with left flank pain and discomfort. On investigation, it was found that high pressure in the LRV, due to compression by the SMA, had led to a large venous aneurysm that had caused pelviureteric junction obstruction and hydronephrosis...
February 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29453163/incidentally-discovered-persistent-m%C3%A3-llerian-duct-syndrome-in-a-45-year-old-male-presenting-with-germ-cell-tumor-and-bilateral-cryptorchidism-a-rare-case-report-and-review-of-the-literature
#5
Turki Z Al Harbi, Kareem Ayman Azzam, Ayman Azzam, Tarek Amin, Nasir Bakshi
INTRODUCTION: Persistent Müllerian Duct Syndrome (PMDS) is a rare sexual disease. It is characterized by the presence of female reproductive structures such as uterus, cervix, fallopian tubes and upper part of vagina in a normal genotypically and phenotypically male. The diagnosis is usually incidental since the patients will present with normal external genitalia and secondary sexual characteristics. Imaging techniques such as magnetic resonance imaging (MRI), computed tomography (CT) scan, or ultrasound (US) could help in the diagnosis...
February 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29452973/the-alpha-defensin-test-for-diagnosing-periprosthetic-joint-infection-in-the-setting-of-an-adverse-local-tissue-reaction-secondary-to-a-failed-metal-on-metal-bearing-or-corrosion-at-the-head-neck-junction
#6
Kamil T Okroj, Tyler E Calkins, Erdan Kayupov, Michael M Kheir, Joshua S Bingham, Christopher P Beauchamp, Javad Parvizi, Craig J Della Valle
BACKGROUND: In patients with adverse local tissue reaction (ALTR) secondary to a failed metal-on-metal (MoM) bearing or corrosion at the head-neck junction in a metal-on-polyethylene bearing, ruling in or out periprosthetic joint infection (PJI) can be challenging. Alpha-defensin has emerged as an accurate test for PJI. The purpose of this multicenter, retrospective study was to evaluate the accuracy of the alpha-defensin synovial fluid test in detecting PJI in patients with ALTR. METHODS: We reviewed medical records of 26 patients from 3 centers with ALTR that had an alpha-defensin test performed...
January 16, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29452704/substance-use-disorder-among-current-cancer-patients-rates-and-correlates-nationally-in-the-department-of-veterans-affairs
#7
Pochu Ho, Robert Rosenheck
BACKGROUND: Substance use disorders (SUDs) are known to cause or complicate treatment of many types of cancers. OBJECTIVES: We sought to systematically assess rates of current SUDs among patients currently in treatment for cancer. METHODS: The National Veteran Health Administration administrative data from fiscal year 2012 were used to compare veterans with both cancer and comorbid SUDs to veterans with cancer but no SUDs and those with a SUD but no cancer...
January 10, 2018: Psychosomatics
https://www.readbyqxmd.com/read/29452600/patterns-of-paediatric-end-of-life-care-a-chart-review-across-different-care-settings-in-switzerland
#8
Karin Zimmermann, Eva Cignacco, Sandra Engberg, Anne-Sylvie Ramelet, Nicolas von der Weid, Katri Eskola, Eva Bergstraesser, Marc Ansari, Christoph Aebi, Reta Baer, Maja Beck Popovic, Vera Bernet, Pierluigi Brazzola, Hans Ulrich Bucher, Regula Buder, Sandra Cagnazzo, Barbara Dinten, Anouk Dorsaz, Franz Elmer, Raquel Enriquez, Patricia Fahrni-Nater, Gabi Finkbeiner, Bernhard Frey, Urs Frey, Jeannette Greiner, Ralph-Ingo Hassink, Simone Keller, Oliver Kretschmar, Judith Kroell, Bernard Laubscher, Kurt Leibundgut, Reta Malaer, Andreas Meyer, Christoph Stuessi, Mathias Nelle, Thomas Neuhaus, Felix Niggli, Geneviève Perrenoud, Jean-Pierre Pfammatter, Barbara Plecko, Debora Rupf, Felix Sennhauser, Caroline Stade, Maja Steinlin, Lilian Stoffel, Karin Thomas, Christian Vonarburg, Rodo von Vigier, Bendicht Wagner, Judith Wieland, Birgit Wernz
BACKGROUND: Paediatric end-of-life care is challenging and requires a high level of professional expertise. It is important that healthcare teams have a thorough understanding of paediatric subspecialties and related knowledge of disease-specific aspects of paediatric end-of-life care. The aim of this study was to comprehensively describe, explore and compare current practices in paediatric end-of-life care in four distinct diagnostic groups across healthcare settings including all relevant levels of healthcare providers in Switzerland...
February 16, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29452576/assessing-retention-in-care-after-12-months-of-the-pediatric-development-clinic-implementation-in-rural-rwanda-a-retrospective-cohort-study
#9
Scheilla Bayitondere, Francois Biziyaremye, Catherine M Kirk, Hema Magge, Katrina Hann, Kim Wilson, Christine Mutaganzwa, Eric Ngabireyimana, Fulgence Nkikabahizi, Evelyne Shema, David B Tugizimana, Ann C Miller
BACKGROUND: In Africa, a high proportion of children are at risk for developmental delay. Early interventions are known to improve outcomes, but they are not routinely available. The Rwandan Ministry of Health with Partners In Health/Inshuti Mu Buzima created the Pediatric Development Clinic (PDC) model for providing interdisciplinary developmental care for high-risk infants in rural settings. As retention for chronic care has proven challenging in many settings, this study assesses factors related to retention to care after 12 months of clinic enrollment...
February 16, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29451875/linkage-to-hiv-care-following-diagnosis-in-the-who-european-region-a-systematic-review-and-meta-analysis-2006-2017
#10
Sara Croxford, Zheng Yin, Fiona Burns, Andrew Copas, Katy Town, Sarika Desai, Andrew Skingsley, Valerie Delpech
BACKGROUND: Timely linkage to care after HIV diagnosis is crucial as delayed access can result in poor patient outcomes. The aim of this systematic review was to synthesise the evidence to achieve a better understanding of what proportion of patients are linked to care and what factors impact linkage. METHODS: Systematic searches were run in six databases up to the end of February 2017. The grey literature was also reviewed. Inclusion criteria were: sample size ≥50 people (aged ≥15), from the WHO European Region, published 2006-2017 and in English...
2018: PloS One
https://www.readbyqxmd.com/read/29451745/detection-of-ros1-positive-non-small-cell-lung-cancer-on-cytological-specimens-using-immunocytochemistry
#11
Tatjana Vlajnic, Spasenija Savic, Audrey Barascud, Betty Baschiera, Michel Bihl, Bruno Grilli, Michelle Herzog, Julien Rebetez, Lukas Bubendorf
BACKGROUND: Rearrangements of the ROS1 oncogene are found in 1% to 2% of non-small cell lung cancers (NSCLC) and are regarded as mutually exclusive oncogenic driver mutations. Since the approval of targeted therapy for ROS1-positive NSCLC, ROS1 testing has become a part of the diagnostic routine. Fluorescence in situ hybridization (FISH), optionally selected for by immunohistochemistry on histological material, is a common practice for the detection of ROS1 rearrangements. However, NSCLC often is diagnosed by cytology alone, requiring predictive marker testing on cytological specimens...
February 16, 2018: Cancer Cytopathology
https://www.readbyqxmd.com/read/29451670/-it-s-a-traumatic-illness-traumatic-to-witness-a-qualitative-study-of-the-experiences-of-bereaved-family-caregivers-of-patients-with-cutaneous-t-cell-lymphoma
#12
D Orlowska, L E Selman, T Beynon, E Radcliffe, S Whittaker, F Child, R Harding
BACKGROUND: Cutaneous T-cell lymphomas (CTCL) are rare cancers which can be difficult to diagnose, are incurable and adversely affect quality of life, particularly in advanced disease. Families often provide care, but little is known about their experiences or needs while caring for their relative with advanced disease or in bereavement. OBJECTIVES: To explore the experiences of bereaved family caregivers of patients with CTCL. METHODS: Single semi-structured qualitative interviews were conducted with bereaved family caregivers of patients with CTCL recruited via a supra-regional CTCL clinic...
February 16, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29450848/automated-pathogenesis-based-diagnosis-of-lumbar-neural-foraminal-stenosis-via-deep-multiscale-multitask-learning
#13
Zhongyi Han, Benzheng Wei, Stephanie Leung, Ilanit Ben Nachum, David Laidley, Shuo Li
Pathogenesis-based diagnosis is a key step to prevent and control lumbar neural foraminal stenosis (LNFS). It conducts both early diagnosis and comprehensive assessment by drawing crucial pathological links between pathogenic factors and LNFS. Automated pathogenesis-based diagnosis would simultaneously localize and grade multiple spinal organs (neural foramina, vertebrae, intervertebral discs) to diagnose LNFS and discover pathogenic factors. The automated way facilitates planning optimal therapeutic schedules and relieving clinicians from laborious workloads...
February 15, 2018: Neuroinformatics
https://www.readbyqxmd.com/read/29450734/two-hour-post-challenge-glucose-is-a-better-predictor-of-adverse-outcome-after-myocardial-infarction-than-fasting-or-admission-glucose-in-patients-without-diabetes
#14
Sudipta Chattopadhyay, Anish George, Joseph John, Thozukat Sathyapalan
AIMS: We evaluate prevalence of new abnormal glucose tolerance (AGT) in post-MI survivors without known diabetes (DM) if guidelines are followed and compare the ability of admission (APG), fasting (FPG) and 2-h post-load plasma glucose (2h-PG) to predict prognosis. METHODS: A total of 674 patients were followed up for 4 years for incidence of major adverse cardiovascular events (MACE) of cardiovascular death, non-fatal re-infarction or non-haemorrhagic stroke. Ability of models including APG, FPG and 2h-PG to predict MACE was compared...
February 15, 2018: Acta Diabetologica
https://www.readbyqxmd.com/read/29449366/use-of-serum-transthyretin-as-a-prognostic-indicator-and-predictor-of-outcome-in-cardiac-amyloid-disease-associated-with-wild-type-transthyretin
#15
Jacquelyn L S Hanson, Marios Arvanitis, Clarissa M Koch, John L Berk, Frederick L Ruberg, Tatiana Prokaeva, Lawreen H Connors
BACKGROUND: Wild-type transthyretin amyloidosis (ATTRwt), an underappreciated cause of heart failure in older adults, is challenging to diagnose and monitor in the absence of validated, disease-specific biomarkers. We examined the prognostic use and survival association of serum TTR (transthyretin) concentration in ATTRwt. METHODS AND RESULTS: Patients with biopsy-proven ATTRwt were retrospectively identified. Serum TTR, cardiac biomarkers, and echocardiographic parameters were assessed at baseline and follow-up evaluations...
February 2018: Circulation. Heart Failure
https://www.readbyqxmd.com/read/29449046/-chordoma-cutis-an-unusual-clinical-presentation-of-a-rare-neoplasm-chordoma
#16
Clémence Delteil, Nausicaa Malissen, Romain Appay, Quentin Magis, Sébastien Aubert, Corinne Bouvier, Marie-Aleth Richard, Nicolas Macagno
Chordoma cutis represents an unusual clinical presentation of a rare neoplasm. The involvement of skin or sub-cutaneous soft tissues can be the consequence of local infiltration or metastasis; the latter may occur several years following the initial diagnosis of chordoma and therefore, may pose a diagnosis challenge when the clinical history of the patient is unknown. The clinical forms, morphology, immuno-histochemical profile and the main differential diagnoses of chordoma cutis are presented here through an anatomoclinical case...
February 12, 2018: Annales de Pathologie
https://www.readbyqxmd.com/read/29447898/challenges-and-outcomes-of-cholesteatoma-management-in-children-with-down-syndrome
#17
Saied Ghadersohi, Bharat Bhushan, Kathleen R Billings
INTRODUCTION: The high incidence of chronic otitis media with effusion and Eustachian tube dysfunction in children with Down syndrome (DS) may predispose them to cholesteatoma formation. Establishing the diagnosis, choosing the appropriate operative intervention, and post-operative care can be challenging. OBJECTIVE: To describe management strategies for cholesteatoma diagnosis, surgical treatment, and post-operative management in children with Down syndrome. METHODS: Retrospective case series of 14 patients (17 total ears) with Down syndrome diagnosed with cholesteatoma over a 9-year period...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#18
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29447342/diagnosing-coronary-artery-disease-after-a-positive-coronary-computed-tomography-angiography-the-dan-nicad-open-label-parallel-head-to-head-randomized-controlled-diagnostic-accuracy-trial-of-cardiovascular-magnetic-resonance-and-myocardial-perfusion-scintigraphy
#19
L Nissen, S Winther, J Westra, J A Ejlersen, C Isaksen, A Rossi, N R Holm, G Urbonaviciene, L C Gormsen, L H Madsen, E H Christiansen, M Maeng, L L Knudsen, L Frost, L Brix, H E Bøtker, S E Petersen, M Bøttcher
Aims: Perfusion scans after coronary computed tomography angiography (CCTA) in patients with suspected coronary artery disease (CAD) may reduce unnecessary invasive coronary angiographies (ICAs). However, the diagnostic accuracy of perfusion scans after primary CCTA is unknown. The aim of this study was to determine the diagnostic accuracy of cardiac magnetic resonance (CMR) and myocardial perfusion scintigraphy (MPS) against ICA with fractional flow reserve (FFR) in patients suspected of CAD by CCTA...
February 13, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29446860/development-of-a-clinical-prediction-rule-for-tuberculous-meningitis-in-adults-in-lima-peru
#20
Lely Solari, Alonso Soto, Patrick van der Stuyft
OBJECTIVES: Diagnosis of Tuberculous Meningitis (TM) is a challenge in countries with a high burden of the disease and constrained resources and Clinical Prediction Rules (CPRs) could be of assistance. We aimed at developing a CPR for diagnosis of TM in a Latin American setting with high tuberculosis incidence and a concentrated HIV epidemic. METHODS: We enrolled adult patients with clinical suspicion of TM attending two hospitals in Lima, Peru. We obtained information on potential anamnestic, clinical and laboratory predictive findings that are easy to collect and promptly available...
February 15, 2018: Tropical Medicine & International Health: TM & IH
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