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https://www.readbyqxmd.com/read/28324788/primary-central-nervous-system-vasculitis-and-its-mimicking-diseases-clinical-features-outcome-comorbidities-and-diagnostic-results-a-case-control-study
#1
J Becker, P A Horn, K Keyvani, I Metz, C Wegner, W Brück, F M Heinemann, J C Schwitalla, P Berlit, M Kraemer
OBJECTIVES: To compare clinical features and outcome, imaging characteristics, biopsy results and laboratory findings in a cohort of 69 patients with suspected or diagnosed primary central nervous system vasculitis (PCNSV) in adults; to identify risk factors and predictive features for PCNSV. PATIENTS AND METHODS: We performed a case-control-study including 69 patients referred with suspected PCNSV from whom 25 were confirmed by predetermined diagnostic criteria based on biopsy (72%) or angiography (28%)...
March 8, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28318950/cholesteryl-ester-storage-disease-an-underdiagnosed-cause-of-cirrhosis-in-adults
#2
REVIEW
Mamta Pant, Kiyoko Oshima
Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic cirrhosis...
February 9, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28318050/fibro-osseous-pseudotumor-of-the-digits-mimicking-pyogenic-granuloma
#3
Alba Gómez-Zubiaur, Laura Pericet-Fernández, María Dolores Vélez-Velázquez, Alicia Cabrera-Hernández, Ana Belen Piteiro-Bermejo, Sonia Beá-Ardebol, Susana Medina-Montalvo, Lidia Trasobares-Marugán
Fibro-osseous pseudotumor of the digits is a benign neoplasm that originates in the soft tissue adjacent to the short bones of the hands and feet. We present a case in a 13-year-old girl that was initially misdiagnosed as pyogenic granuloma. Familiarity with this entity and imaging and histologic studies are necessary to avoid incorrect diagnoses and aggressive surgical interventions.
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28317318/men-with-biopsy-confirmed-hepatocellular-adenoma-have-a-high-risk-of-progression-to-hcc-a-nationwide-population-based-study
#4
Lars Bossen, Henning Grønbaek, Peter Lykke Eriksen, Peter Jepsen
BACKGROUND: Hepatocellular adenoma is a benign liver tumour that may transform to hepatocellular carcinoma (HCC). We used data from Danish nationwide healthcare registries to investigate the incidence and prognosis of hepatocellular adenoma. METHODS: We included all patients with a hospital discharge diagnosis for benign liver tumour (ICD-10: D13.4) in 1997-2012 and a liver biopsy confirming the hepatocellular adenoma diagnosis. Follow-up began one year after adenoma diagnosis, to minimize the possibility that the tumour was a misdiagnosed HCC...
March 19, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28316219/-primary-malignant-melanoma-misdiagnosed-as-meningioma-in-intracranial-a-case-report
#5
W J Wang, J L Cheng, Y Zhang
No abstract text is available yet for this article.
March 23, 2017: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://www.readbyqxmd.com/read/28315806/paroxysmal-nonepileptic-events-in-children-with-epilepsy
#6
Yuji Ito, Hiroyuki Kidokoro, Tamiko Negoro, Masaharu Tanaka, Yu Okai, Yoko Sakaguchi, Chikako Ogawa, Tomoya Takeuchi, Atsuko Ohno, Hiroyuki Yamamoto, Tomohiko Nakata, Satoshi Maesawa, Kazuyoshi Watanabe, Yoshiyuki Takahashi, Jun Natsume
OBJECTIVE: The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. METHODS: The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs...
February 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28304128/the-thickness-of-the-adhesive-layer-increases-the-misdiagnosing-of-the-radiolucent-zones-and-restoration-replacement-indication
#7
Tatiana Tambara Fröhlich, Gabriel Ferreira Nicoloso, Tathiane Larissa Lenzi, Fabio Zovico Maxnuck Soares, Rachel De Oliveira Rocha
OBJECTIVE: To evaluate the influence of the thickness of the adhesive layer and demineralized dentin on the decision to replace composite restoration. MATERIALS AND METHODS: Eighty human third molars with occlusal preparations (Class I) were randomly assigned to eight groups (n = 10): adhesive system (Clearfil SE Bond [CSE] or Scotchbond Universal Adhesive [SBU]); the number of adhesive layers (one or two); and substrate (sound or demineralized dentin). A blinded examiner evaluated radiographs of each restored tooth...
March 17, 2017: Journal of Esthetic and Restorative Dentistry
https://www.readbyqxmd.com/read/28303579/endometriosis-in-patients-with-irritable-bowel-syndrome-specific-symptomatic-and-demographic-profile-and-response-to-the-low-fodmap-diet
#8
Judith S Moore, Peter R Gibson, Richard E Perry, Rebecca E Burgell
BACKGROUND: Women with endometriosis are frequently misdiagnosed with irritable bowel syndrome (IBS) for some time before a correct diagnosis is made. Visceral hypersensitivity is a key feature in both conditions. AIMS: To determine if there are distinct symptom patterns in women with IBS and endometriosis, and to determine the response of these women to a low FODMAP diet in comparison to those with IBS alone. MATERIALS AND METHODS: A retrospective analysis of prospectively collected data from women attending a specialist IBS service in Christchurch New Zealand...
March 17, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28303554/imaging-of-the-oesophagus-beyond-cancer
#9
REVIEW
Thomas Marini, Amit Desai, Katherine Kaproth-Joslin, John Wandtke, Susan K Hobbs
Non-malignant oesophageal diseases are critical to recognize, but can be easily overlooked or misdiagnosed radiologically. In this paper, we cover the salient clinical features and imaging findings of non-malignant pathology of the oesophagus. We organize the many non-malignant diseases of the oesophagus into two major categories: luminal disorders and wall disorders. Luminal disorders include dilatation/narrowing (e.g. achalasia, scleroderma, and stricture) and foreign body impaction. Wall disorders include wall thickening (e...
March 17, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28302168/comparison-of-the-diagnostic-performance-of-microscopic-examination-with-nested-polymerase-chain-reaction-for-optimum-malaria-diagnosis-in-upper-myanmar
#10
Jung-Mi Kang, Pyo-Yun Cho, Mya Moe, Jinyoung Lee, Hojong Jun, Hyeong-Woo Lee, Seong Kyu Ahn, Tae Im Kim, Jhang Ho Pak, Moe Kyaw Myint, Khin Lin, Tong-Soo Kim, Byoung-Kuk Na
BACKGROUND: Accurate diagnosis of Plasmodium infection is crucial for prompt malaria treatment and surveillance. Microscopic examination has been widely applied as the gold standard for malaria diagnosis in most part of malaria endemic areas, but its diagnostic value has been questioned, particularly in submicroscopic malaria. In this study, the diagnostic performance of microscopic examination and nested polymerase chain reaction (PCR) was evaluated to establish optimal malaria diagnosis method in Myanmar...
March 16, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28302057/clinically-proven-mtdna-mutations-are-not-common-in-those-with-chronic-fatigue-syndrome
#11
Elizna M Schoeman, Francois H Van Der Westhuizen, Elardus Erasmus, Etresia van Dyk, Charlotte V Y Knowles, Shereen Al-Ali, Wan-Fai Ng, Robert W Taylor, Julia L Newton, Joanna L Elson
BACKGROUND: Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (mtDNA) variation in CFS. It is now known that fatigue is common and often severe in patients with mitochondrial disease irrespective of their age, gender or mtDNA genotype. More recently, it has been suggested that some CFS patients harbour clinically proven mtDNA mutations...
March 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28301898/epithelioid-angiomyolipoma-of-the-liver-a-case-report
#12
Soo Yeon Lee, Baek-Hui Kim
Epithelioid angiomyolipoma (EAML) of liver is a rare neoplasm. Hepatic EAML is often misdiagnosed as other neoplasms such as hepatocellular carcinoma due to non-specific clinical and radiologic features. The morphologic features under microscope and immunohistochemistry staining profile are important in the diagnosis EAML. Here, we report a case of 52-year-old man who found 1.2 cm mass in liver by routine checkup. On the impression of hepatocellular carcinoma, lateral sectionectomy of the liver was done. Microscopically, the tumor is composed of predominant epithelioid cells with vascular component and foamy cells...
March 17, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28300863/an-aggressive-microcystic-adnexal-carcinoma-infiltrating-the-sternum
#13
Laura F Sandoval, Howard Steinman
Microcystic adnexal carcinoma is a rare cutaneous tumor that is often misdiagnosed and has the potential to be aggressive. Mohs surgery is the treatment of choice to prevent recurrences. We present a case of a large recurrent microcystic adnexal carcinoma on the sternum, initially diagnosed as a basal cell carcinoma. This tumor infiltrated the muscle and bone and was unresectable with Mohs surgery. <p><em>J Drugs Dermatol. 2017;16(2):180-181.</em></p>.
February 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28299312/genetic-screening-of-mutations-associated-with-fabry-disease-in-a-nationwide-cohort-of-juvenile-idiopathic-arthritis-patients
#14
Maria J Gonçalves, Ana F Mourão, António Martinho, Olívia Simões, José Melo-Gomes, Manuel Salgado, Paula Estanqueiro, Célia Ribeiro, Iva Brito, João E Fonseca, Helena Canhão
Fabry's disease (FD) is a lysosomal storage disorder associated with an alpha-galactosidase A deficiency. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients with established diagnosis is unknown, but as musculoskeletal pain may be an important complaint at presentation, misdiagnosed cases are anticipated. With this study, we aim to calculate the frequency of FD-associated mutations in a cohort of JIA patients. Children with JIA from a national cohort were selected. Clinical and laboratorial information was recorded in the Portuguese rheumatic diseases register (http://Reuma...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28298353/simultaneous-assay-of-cortisol-and-dexamethasone-improved-diagnostic-accuracy-of-the-dexamethasone-suppression-test
#15
Grethe Åstrøm Ueland, Paal Methlie, Ralf Kellmann, Marit R Bjørgaas, Bjorn O Asvold, Ketil Thorstensen, Oskar Kelp, Hrafnkell B Thordarson, Gunnar Mellgren, Kristian Løvås, Eystein Sverre Husebye
OBJECTIVES: The overnight dexamethasone (DXM)-suppression test (DST) has high sensitivity, but moderate specificity, for diagnosing hypercortisolism. We have evaluated if simultaneous measurement of S-DXM may correct for variable DXM bioavailability and increase diagnostic performance of DST, and if saliva (sa) is a feasible adjunct or alternative to serum. DESIGN AND METHODS: Prospective study of DST in suspected Cushing's syndrome (CS) (n= 49), incidentaloma (n= 152), and controls (n= 101)...
March 15, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28297757/-clinicopathologic-study-of-cardiac-myxofibrosarcomas
#16
Y Y Cui, J F Shang, D Chen, Y W Li, G L Lian, L Y Han
Objective: To investigate the clinicopathologic features of cardiac myxofibrosarcomas. Methods: The clinical data, pathomorphologic and immunohistochemical features were evaluated in five cases of cardiac myxofibrosarcoma collected from January 2009 to December 2014, with relevant literature review. Results: Five patients with cardiac myxofibrosarcoma, including four women and one man [age range 39-61 years; mean (50.4±9.0) years] were included. All tumors were broadbased and located mainly in the left atrium, with one case extending through the atrial wall and pericardium to the left lower lung lobe...
March 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28296753/a-rare-thoracic-intraspinal-schwannoma-in-twin-pregnancy-with-aggravated-clinical-presence-a-case-report-following-care
#17
Ruiqi Chen, Anqi Xiao, Lu Xing, Chao You, Jiagang Liu
INTRODUCTION: This is the first case report about a thoracic intraspinal schwannoma in twin pregnancy with aggressive clinical presentation. CLINICAL PRESENCE AND DIAGNOSES: A 21-year-old woman presented with a 2-month history of back pain and slight lower extremity numbness and weakness, and her symptoms were misdiagnosed as normal reactions to pregnancy until she progressed to complete paralysis and incontinence within 2 weeks. She was then confirmed to have thoracic intraspinal schwannoma through MRI...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28295587/validation-of-non-invasive-methods-to-predict-the-presence-of-gastroesophageal-varices-in-a-cohort-of-patients-with-compensated-advanced-chronic-liver-disease
#18
Elba Llop, Marta Lopez, Juan de la Revilla, Natalia Fernandez, Maria Trapero, Marta Hernandez, Carlos Fernandez, Fernando Pons, Jose Luis Martinez, Jose Luis Calleja
INTRODUCTION: The aim was to validate non-invasive methods to predict the presence of gastroesophageal varices (GEV) in patients with suspected compensated advanced chronic liver disease (cACLD). METHODS: We retrospectively reviewed clinical and radiological data collected prospectively between September 2013 and September 2015. We reviewed 442 consecutive patients with suspected cACLD measured by transient elastography (TE) and a gastroscopy. We evaluated platelets, spleen diameter, TE, LSPS (liver stiffness x spleen size /platelets), variceal risk index (VRI), Baveno VI strategy and Augustin algorithm...
March 11, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28294481/mycoplasma-hominis-periaortic-abscess-following-heart-lung-transplantation
#19
Hideharu Hagiya, Hisao Yoshida, Norihisa Yamamoto, Keigo Kimura, Akiko Ueda, Isao Nishi, Yukihiro Akeda, Kazunori Tomono
We report the first case of Mycoplasma hominis periaortic abscess after heart-lung transplantation, to our knowledge. The absence of sternal wound infection delayed the diagnosis, but the patient successfully recovered with debridement surgeries and long-term antibiotic therapy. Owing to the difficulty in detection and the intrinsic resistance to beta-lactams, M. hominis infections are prone to being misdiagnosed and undertreated. M. hominis should be suspected in cases where conventional microbiological identification and treatment approaches fail...
March 13, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28293536/early-onset-bilateral-juvenile-myasthenia-gravis-masquerading-as-simple-congenital-ptosis
#20
Md Shahid Alam, Pratheeba Devi Nivean
Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the more so when the condition is bilateral. We present a case of a two-year-old child who presented with bilateral ptosis and was diagnosed as a case of simple congenital ptosis elsewhere with the advice to undergo tarsofrontalis sling surgery...
2017: GMS Ophthalmology Cases
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