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https://www.readbyqxmd.com/read/28528509/invasive-lobular-carcinoma-with-extracellular-mucin-production-a-novel-pattern-of-lobular-carcinomas-of-the-breast-clinico-pathological-description-of-eight-cases
#1
Gábor Cserni, Giuseppe Floris, Nektarios Koufopoulos, Anikó Kovács, Afroditi Nonni, Peter Regitnig, Anders Stahls, Zsuzsanna Varga
Invasive lobular carcinoma of the breast is known to produce intracellular mucin and has been recognized in single-case reports to show extracellular mucin production, as well. This latter morphology is not only rare but must also be under- or misdiagnosed. The aim was to better characterize this entity. Cases of lobular cancers demonstrating extracellular mucin formation were identified in a multi-institutional effort and their clinical and morphologic features were assessed. Immunohistochemistry was used to characterize the E-cadherin-membrane complex, neuroendocrine differentiation, and to some extent, mucin formation...
May 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28527402/a-rare-e13a3-b2a3-bcr-abl1-fusion-transcript-with-normal-karyotype-in-chronic-myeloid-leukemia-the-challenges-in-diagnosis-and-monitoring-minimal-residual-disease-mrd
#2
M-H Duan, H Li, H Cai
Patients with chronic myeloid leukemia (CML) have a t (9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL1 fusion gene. For many years, conventional karyotyping has been used as the standard diagnostic tool for t (9;22) (q34;q11.2). However, it has several limitations that may lead to failure for detecting BCR-ABL1 gene rearrangements in around 5% of all CML patients. Although reverse transcription polymerase chain reaction (RT-PCR) has evolved as a sensitive method for detecting BCR-ABL1 translocation, this method fail to detect certain BCR-ABL1 fusion transcript type, such as e13a3 (also known as b2a3), as a result of many commercially available and laboratory-developed primer sets...
May 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28526957/cytomorphology-review-of-100-newly-diagnosed-lower-risk-mds-patients-in-the-european-leukemianet-mds-eumds-registry-reveals-a-high-inter-observer-concordance
#3
Louise de Swart, Alex Smith, Marius MacKenzie, Argiris Symeonidis, Judith Neukirchen, Dana Mikulenková, Teresa Vallespí, Gina Zini, Malgorzata Paszkowska-Kowalewska, Anton Kruger, Leonie Saft, Pierre Fenaux, David Bowen, Eva Hellström-Lindberg, Jaroslav Čermák, Reinhard Stauder, Aurelia Tatic, Mette Skov Holm, Luca Malcovati, Krzysztof Mądry, Jackie Droste, Nicole Blijlevens, Theo de Witte, Ulrich Germing
The European LeukemiaNet MDS (EUMDS) registry is collecting data of myelodysplastic syndrome (MDS) patients belonging to the IPSS low or intermediate-1 category, newly diagnosed by local cytologists. The diagnosis of MDS can be challenging, and some data report inter-observer variability with regard to the assessment of the MDS subtype. In order to ensure that correct diagnoses were made by the participating centres, blood and bone marrow slides of 10% of the first 1000 patients were reviewed by an 11-person panel of cytomorphologists...
May 20, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28526878/a-data-mining-approach-using-cortical-thickness-for-diagnosis-and-characterization-of-essential-tremor
#4
J Ignacio Serrano, Juan P Romero, Ma Dolores Del Castillo, Eduardo Rocon, Elan D Louis, Julián Benito-León
Essential tremor (ET) is one of the most prevalent movement disorders. Being that it is a common disorder, its diagnosis is considered routine. However, misdiagnoses may occur regularly. Over the past decade, several studies have identified brain morphometric changes in ET, but these changes remain poorly understood. Here, we tested the informativeness of measuring cortical thickness for the purposes of ET diagnosis, applying feature selection and machine learning methods to a study sample of 18 patients with ET and 18 age- and sex-matched healthy control subjects...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526396/the-impact-of-initial-misdiagnosis-of-ruptured-abdominal-aortic-aneurysms-on-lead-times-complication-rate-and-survival
#5
K Smidfelt, C Drott, K Törngren, J Nordanstig, J Herlitz, M Langenskiöld
OBJECTIVE/BACKGROUND: To investigate the frequency of initial misdiagnosis and the clinical consequences of an initial misdiagnosis of ruptured abdominal aortic aneurysms (rAAA). METHODS: This was a retrospective cohort study. Data from the Swedish National Registry for Vascular Surgery (Swedvasc) and medical charts were extracted for patients treated for rAAA in the West of Sweden in the period 2008-14. Initially misdiagnosed patients were compared with correctly diagnosed patients...
May 16, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28525681/unveiling-idiopathic-macular-telangiectasia-clinical-applications-of-optical-coherence-tomography-angiography
#6
Marco A Gonzalez, Diana Shechtman, Jay M Haynie, Leo Semes
PURPOSE: Idiopathic macular telangiectasia type 2 (IMT2) is a bilateral acquired maculopathy, with a spectrum of clinical presentations associated with inner retinal telangiectatic vascular anomalies. Cases often are underdiagnosed or misdiagnosed. Current diagnostic modalities such as spectral-domain optical coherence tomography (SD-OCT) and fluorescein angiography (FA) are valuable to the understanding of the clinicopathology. More recently, optical coherence tomography angiography (OCTA), as an emerging noninvasive technology, has been shown to be particularly useful in the assessment and management of IMT2...
May 19, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28525532/the-effects-of-indirect-and-direct-acting-anticoagulants-on-lupus-anticoagulant-assays-a-large-retrospective-study-at-a-coagulation-reference-laboratory
#7
Jansen N Seheult, Michael P Meyer, Franklin A Bontempo, Irina Chibisov
Objectives: To investigate the effects of indirect- and direct-acting anticoagulants on the interpretation of lupus anticoagulant (LAC) assays. Methods: A retrospective database review was performed to identify all LAC panels from November 2012 to November 2015. The positivity rates for three LAC tests were compared among various anticoagulant medications. Results: This analysis included 7,721 LAC panels. Direct oral anticoagulants, warfarin, and unfractionated heparin (UFH) were associated with higher LAC positivity rates compared with patients not receiving documented anticoagulation (83% for argatroban, 58% for dabigatran, 72% for rivaroxaban, 53% for apixaban, 56% for warfarin, and 36% for UFH vs 29% for no anticoagulation, P < ...
May 19, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28524151/-etiopathogenesis-of-ocular-ischemic-syndrome
#8
D К Makhkamova
Ocular ischemic syndrome (OIS) is a collection of symptoms of carotid and ophthalmic artery disease of common genesis accompanied by ischemia of eyeball membranes. Specifically, the intraocular blood flow becomes impaired due to inflow reduction or arrest, while the venous outflow remains patent. Causes of OIS include arterial hypertension, atherosclerosis, diabetes, aortoarteritis and other vascular diseases. Clinical features depend on the extent, nature, and site of vascular involvement as well as the concurrent pathology...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28523295/clinical-histological-and-therapeutic-features-of-bowen-s-disease
#9
Tiberiu Paul Neagu, Mirela Ţigliş, Delia Botezatu, Valentin Enache, Claudia Oana Cobilinschi, Mureş Sebastian Vâlcea-Precup, Ioana Marina GrinŢescu
Squamous cell carcinoma (SCC) in situ or Bowen's disease (BD) is a slowly progressive malignancy. However, cases of regression have been reported. Recent reviews cover only certain aspects of this disease; therefore, this paper's aim is to cover all the relevant aspects for medical practice, such as clinical, histological and therapeutic details. BD may affect all regions of the skin and mucosa, but in accordance with the region and etiologic factor, it may embrace different clinical forms, some of them very similar with other skin lesions...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28516512/defective-%C3%AE-2-antiplasmin-cross-linking-and-thrombus-stability-in-a-case-of-acquired-factor-xiii-deficiency
#10
Joanne L Mitchell, Sonja Wright, Sajida Kazi, Henry G Watson, Nicola J Mutch
Acquired factor XIII (FXIII) deficiency is a rare and life-threatening condition that is often misdiagnosed or missed completely. A 72-year-old woman presented with symptoms of major unprovoked bleeding but routine coagulation screening tests and platelet count were normal. Low activated FXIII (FXIIIa) activity levels and abnormal urea clot stability led to diagnosis of acquired FXIII deficiency. A modified Bethesda inhibitor titre of 1.6 Bethesda units/ml indicated the presence of a FXIII inhibitor. Bleeding responded to a single dose of FXIII concentrate and immunosuppression with prednisolone induced remission...
May 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28514786/vascular-proliferation-of-the-thyroid-potential-histopathological-pitfalls-as-a-consequence-of-fine-needle-aspiration
#11
Suvi I Hovi, Ivana Kholová
OBJECTIVE: Fine needle aspiration biopsy (FNAB) can cause reactive histopathological changes, commonly including haemorrhage and granulation tissue. The literature describing vascular proliferation after FNAB is sparse. We aimed to describe neovascularisation in thyroid gland specimens as a consequence of FNAB. STUDY DESIGN: We analysed all thyroid histopathological specimens from the Fimlab Laboratories collected between 2010 and 2013 for neovascularisation and distortions in the accompanying tissue...
May 18, 2017: Acta Cytologica
https://www.readbyqxmd.com/read/28513529/total-gastric-necrosis-a-case-report-and-literature-review
#12
G Huang, Y Jin
Total gastric necrosis is a rare disease and easy to misdiagnose. Here we report a rare case of total gastric necrosis. The patient, an 89-year-old male, had epigastric pain for 5 days. He was transferred to our hospital because of intraperitoneal hemorrhage and hypovolemic shock. We performed an emergency laparotomy. During the surgery, we found a total of 3500ml unclotted blood in the abdomen, splenic infarction and gastric necrosis. Total gastrectomy with Roux-en-Y esophagojejunostromy and splenectomy was performed...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28513528/complete-upper-urinary-tract-obstruction-caused-by-penetrating-pellet-injury-of-the-ureterintroduction
#13
M T Gulpinar, S K Keskin, A Yildirim, T Caskurlu
Ureteral injuries due to gunshots are tend to be misdiagnosed because of concomitant vascular and intraabdominal organ wounds. Our case is a 23-year-old man who was admitted to the hospital with multiple abdominal gunshot wounds. Laboratory findings showed worsening anemia, and the computed tomography (CT) scan showed multiple lead bullets inside the abdomen and retroperitoneum. Patient was then taken to the operation room for laparatomy. There were many intestinal injuries and also a stable retroperitoneal hematoma...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28513083/screen-printed-ambulatory-electrode-set-enables-accurate-diagnostics-of-sleep-bruxism
#14
Tomi Miettinen, Katja Myllymaa, Anu Muraja-Murro, Susanna Westeren-Punnonen, Taina Hukkanen, Juha Töyräs, Reijo Lappalainen, Esa Mervaala, Kirsi Sipilä, Sami Myllymaa
Currently, definite diagnosis of sleep bruxism requires polysomnography. However, it is restrictedly available, and too cumbersome and expensive for the purpose. The aim of this study was to introduce an ambulatory electrode set and evaluate its feasibility for more cost-effective diagnostics of sleep bruxism. Six self-assessed bruxers (one male, five females; aged 21-58 years) and six healthy controls (four males, two females, aged 21-25 years) underwent a standard polysomnographic study and a concurrent study with the ambulatory electrode set...
May 17, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28512562/morphologic-confounders-and-cd19-negativity-in-a-case-of-hairy-cell-leukemia
#15
Pulkit Rastogi, Sreejesh Sreedharanunni, Uday Yanamandra, Man Updesh Singh Sachdeva, Neelam Varma
OBJECTIVES: We report a case of hairy cell leukemia (HCL) initially misdiagnosed as plasma cell dyscrasia due to various clinical, morphological and immunophenotypic confounders. METHODS AND RESULTS: In a patient diagnosed of marrow plasmacytosis and serum monoclonal protein elsewhere and referred to our hospital, morphological evaluation of bone marrow aspirate smears and trephine biopsy, immunophenotyping, and molecular testing (BRAFV600E mutation) were done. Clinically, the patient was asymptomatic; bone marrow revealed plasmacytosis, mastocytosis, and lymphocytosis with a few "hairy" cells...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28512506/case-of-primary-leptomeningeal-lymphoma-presenting-with-papilloedema-and-characteristics-of-pseudotumor-syndrome
#16
Mai Takagi, Hidehiro Oku, Teruyo Kida, Toshikazu Akioka, Tsunehiko Ikeda
The authors describe an immunocompetent, 50-year-old man who complained of a daily transient blurring of his vision with bilateral papilloedema. His visual acuity was 20/20 OU, and the blind spot was enlarged bilaterally. There was intracranial hypertension, but imaging for systemic and brain tumours were negative. These findings suggested a diagnosis of the pseudotumor syndrome. However, MRI showed leptomeningeal enhancement, and acetazolamide successfully resolved his visual symptoms and papilloedema. Cytology and flow cytometry of the CSF led to the final diagnosis of primary leptomeningeal lymphoma (PLML)...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28511873/misdiagnosis-of-vertebral-fractures-on-local-radiographic-readings-of-the-multicentre-point-prevalence-of-osteoporosis-in-internal-medicine-study
#17
Daniele Diacinti, Claudio Vitali, Gualberto Gussoni, Daniela Pisani, Luigi Sinigaglia, Gerolamo Bianchi, Ranuccio Nuti, Luigi Gennari, Stefano Pederzoli, Maddalena Grazzini, Antonella Valerio, Antonino Mazzone, Carlo Nozzoli, Mauro Campanini, Carlina V Albanese
BACKGROUND: Osteoporotic vertebral fractures (VFs) are often misdiagnosed because asymptomatic and occurring in the absence of specific trauma. Further, diagnostic assessment of VFs may be suboptimal. AIM OF THE STUDY: To assess the misdiagnosis of vertebral fractures on local radiographic readings in the cohort of patients enrolled in the POINT study. METHODS: We enrolled hospitalised patients, admitted for any cause to the Internal Medicine Units of 37 hospitals participating to the cross-sectional previously published POINT study...
May 13, 2017: Bone
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#18
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28508776/development-and-validation-of-a-multivariable-prediction-model-for-the-occurrence-of-delirium-in-hospitalized-gerontopsychiatry-and-internal-medicine-patients
#19
Diether Kramer, Sai Veeranki, Dieter Hayn, Franz Quehenberger, Werner Leodolter, Christian Jagsch, Günter Schreier
Delirium is an acute confusion condition, which is common in elderly and often misdiagnosed in hospitalized patients. Early identification and prevention of delirium could reduce morbidity and mortality rates in those affected and reduce hospitalization costs. We have developed and validated a multivariate prediction model that predicts delirium and gives an early warning to physicians. A large set of patient electronic medical records have been used in developing the models. Classical learning algorithms have been used to develop the models and compared the results...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28507959/intramuscular-arteriovenous-hemangioma-of-thigh-a-case-report-and-review-of-literature
#20
Sanjeev Patnaik, Praveen Kumar, Biswaranjan Nayak, Nachiketa Mohapatra
INTRODUCTION: Skeletal muscle hemangiomas are uncommon soft tissue tumors; more than 90% are misdiagnosed initially. They present as chronic pain and swelling in a muscle with or without a history of trauma. Magnetic resonance imaging is the investigation of choice. Many treatment modalities for the symptomatic hemangiomas are available of which surgical excision is the most preferred. CASE REPORT: We present an unusual case of pain, swelling, and restriction of movements in the right knee following an episode of trauma in an 8-year-old boy diagnosed to have intramuscular arteriovenous hemangioma in the vastusmedialis and vastusintermedius for which he was treated by surgical excision and followed for 2 years and found to have no recurrence...
November 2016: Journal of Orthopaedic Case Reports
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