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https://www.readbyqxmd.com/read/28730244/keratoacanthoma-centrifugum-marginatum-an-unusual-clinical-and-histopathological-diagnostic-pitfall
#1
Tiberiu Augustin Georgescu, Ana Maria Oproiu, Mihai George Rădăşan, Adrian Vasile Dumitru, Diana Costache, Oana Maria Pătraşcu, Anca Mihaela Lăzăroiu, Alina Elena Chefani, Maria Sajin, Mariana Costache
Keratoacanthoma centrifugum marginatum (KCM) is a very rare variant of keratoacanthoma characterized by progressive peripheral growth accompanied by central healing. The tumor has the peculiar ability to involute spontaneously. A careful differential diagnostic with other skin carcinomas or hyperkeratotic lesions is required in order to ensure appropriate clinical management. We report a case of KCM in a 62-year-old man presenting with a solitary, large exophytic, sessile tumor located on the ventral side of the right lower leg, which developed over the course of one year from an initial erythematous papule...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28721304/imaging-features-of-paget-s-disease-on-11-c-choline-pet-ct
#2
Cameron E Leitch, Ajit H Goenka, Benjamin M Howe, Stephen M Broski
The purpose of this study was to investigate the appearance of Paget's disease (PD) on (11)C choline PET/CT and correlate these findings to serum alkaline phosphatase (ALP) level and skeletal scintigraphy. With IRB approval, our institutional (11)C choline PET/CT database (9/2005-6/2015) was searched for patients with PD. Site of osseous involvement, CT appearance, and multiple semi-quantitative measures were measured and correlated with ALP and degree of uptake on bone scan. Our search identified 10 males (mean age 79...
2017: American Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28713442/overdiagnosis-an-unrecognised-and-growing-worldwide-problem-in-healthcare
#3
EDITORIAL
John Brodersen
Overdiagnosis is the diagnosis of deviations, abnormalities, risk factors, and pathologies that in themselves would never cause symptoms (this applies only to risk factors and pathology), would never lead to morbidity, and would never be the cause of death. Therefore, treating an overdiagnosed condition (deviation, abnormality, risk factor, pathology) cannot, by definition, improve the patient's prognosis, and can therefore only be harmful. Overdiagnosis is an extremely harmful and big problem all over the world, and the problem is increasing...
September 2017: Zdravstveno Varstvo
https://www.readbyqxmd.com/read/28712904/pitfalls-in-diagnosis-and-management-of-testicular-choriocarcinoma-metastatic-to-the-brain-report-of-two-cases-and-review-of-literature
#4
REVIEW
Haydn Hoffman, Gentian Toshkezi, Joseph M Fullmer, Walter Hall, Lawrence S Chin
INTRODUCTION: Pure choriocarcinoma of the testes is a rare, aggressive germ cell tumor (GCT) that can metastasize to the brain. Although its prognosis has improved with the development of cisplatin-based chemotherapy regimens, cerebral metastases are prone to hemorrhage and are associated with high morbidity. Here, we present two cases of testicular choriocarcinoma with cerebral metastasis and discuss potential pitfalls in their diagnosis and management. We also review cases in the literature that feature these rare lesions...
July 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28711530/pitfalls-of-a-neuroendoscopic-biopsy-of-intraventricular-germ-cell-tumors
#5
Yasuyuki Kinoshita, Fumiyuki Yamasaki, Atsushi Tominaga, Taiichi Saito, Tetsuhiko Sakoguchi, Takeshi Takayasu, Satoshi Usui, Kazuhiko Sugiyama, Kazunori Arita, Kaoru Kurisu
OBJECTIVE: A neuroendoscopic biopsy has become common for the diagnosis of ventricular tumors. However, its utility in patients with germ cell tumors (GCTs) has not been well discussed. We examined the usefulness and pitfalls of neuroendoscopic biopsies of intraventricular GCTs at a single institution. METHODS: We retrospectively studied 21 consecutive patients diagnosed with GCT by a neuroendoscopic biopsy of the ventricular region via the lateral ventricle. We examined the localization of tumors, histological diagnoses using biopsies, surgical complications, and consistency of the diagnosis at the latest follow-up...
July 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28705174/extensive-colorectal-lymphomatous-polyposis-complicated-by-acute-intestinal-obstruction-a-case-report
#6
Jaques Waisberg, Amanda do Val Anderi, Pedro Augusto Soffner Cardoso, José Henrique Miranda Borducchi, Demetrius Eduardo Germini, Maria Isete Fares Franco, Cidia Vasconcellos
BACKGROUND: Multiple lymphomatous polyposis is a rare type of gastrointestinal lymphoma that extensively infiltrates the intestine. Multiple lymphomatous polyposis originates from the mantle zone of the lymphoma follicle and is considered to be a mantle cell lymphoma, which is a relatively aggressive type of B-cell non-Hodgkin's lymphoma. We report an unusual case of a patient with multiple lymphomatous polyposis with extensive colorectal involvement and acute intestinal obstruction, an atypical complication of this rare disease...
July 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28700716/improved-high-sensitivity-screen-for-huntington-disease-using-a-one-step-triplet-primed-pcr-and-melting-curve-assay
#7
Mingjue Zhao, Felicia S H Cheah, Min Chen, Caroline G Lee, Hai-Yang Law, Samuel S Chong
Molecular diagnosis of Huntington disease (HD) is currently performed by fluorescent repeat-flanking or triplet-primed PCR (TP-PCR) with capillary electrophoresis (CE). However, CE requires multiple post-PCR steps and may result in high cost in high-throughput settings. We previously described a cost-effective single-step molecular screening strategy employing the use of melting curve analysis (MCA). However, because it relies on repeat-flanking PCR, its efficiency in detecting expansion mutations decreases with increasing size of the repeat, which could lead to false-negative results...
2017: PloS One
https://www.readbyqxmd.com/read/28696851/us-evaluation-of-juvenile-idiopathic-arthritis-and-osteoarticular-infection
#8
Jie C Nguyen, Kenneth S Lee, Mahesh M Thapa, Humberto G Rosas
Juvenile idiopathic arthritis (JIA) and osteoarticular infection can cause nonspecific articular and periarticular complaints in children. Although contrast material-enhanced magnetic resonance imaging is the reference standard imaging modality, musculoskeletal ultrasonography (US) is emerging as an important adjunct imaging modality that can provide valuable information relatively quickly without use of radiation or the need for sedation. However, diagnostic accuracy requires a systemic approach, familiarity with various US techniques, and an understanding of maturation-related changes...
July 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28686500/guidelines-for-pathologic-diagnosis-of-malignant-mesothelioma-2017-update-of-the-consensus-statement-from-the-international-mesothelioma-interest-group
#9
Aliya Noor Husain, Thomas V Colby, Nelson G Ordóñez, Timothy Craig Allen, Richard Luther Attanoos, Mary Beth Beasley, Kelly Jo Butnor, Lucian R Chirieac, Andrew M Churg, Sanja Dacic, Françoise Galateau-Sallé, Allen Gibbs, Allen M Gown, Thomas Krausz, Leslie Anne Litzky, Alberto Marchevsky, Andrew G Nicholson, Victor Louis Roggli, Anupama K Sharma, William D Travis, Ann E Walts, Mark R Wick
CONTEXT: - Malignant mesothelioma (MM) is an uncommon tumor that can be difficult to diagnose. OBJECTIVE: - To provide updated, practical guidelines for the pathologic diagnosis of MM. DATA SOURCES: - Pathologists involved in the International Mesothelioma Interest Group and others with an interest and expertise in the field contributed to this update. Reference material included up-to-date, peer-reviewed publications and textbooks. CONCLUSIONS: - There was discussion and consensus opinion regarding guidelines for (1) distinguishing benign from malignant mesothelial proliferations (both epithelioid and spindle cell lesions), (2) cytologic diagnosis of MM, (3) recognition of the key histologic features of pleural and peritoneal MM, (4) use of histochemical and immunohistochemical stains in the diagnosis and differential diagnosis of MM, (5) differentiating epithelioid MM from various carcinomas (lung, breast, ovarian, and colonic adenocarcinomas, and squamous cell and renal cell carcinomas), (6) diagnosis of sarcomatoid MM, (7) use of molecular markers in the diagnosis of MM, (8) electron microscopy in the diagnosis of MM, and (9) some caveats and pitfalls in the diagnosis of MM...
July 7, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28686376/-otoscopic-pitfall-the-congenital-cholesteatoma
#10
Karma Lambercy, Pauline Vinckenbosch, Céline Richard
The congenital cholesteatoma is a rare benign tumor whose diagnosis is mainly made during childhood. Otoscopic examination shows a white retrotympanic collection with or without hearing loss. In case of a late diagnosis, the disease will spread to the surrounding structures, leading to ossicules destruction, facial palsy, sensorineural hearing loss and vestibular dysfunction. Surgery is the therapeutic gold-standard, with different techniques chosen based on the cholesteatoma's extension. Patient should benefit from a long term medical and radiological (MRI) follow-up...
October 5, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28683484/-retinal-nerve-fiber-layer-thickness-measurements-with-optical-coherence-tomography-in-glaucoma-patients-and-healthy-controls
#11
Christian Yahya Mardin
Thickness measurements of the retinal nerve fiber layer in glaucomas have become an important tool for diagnosis and follow-up of progression. High image resolution and advanced evaluation algorithms led to this achievement. In the following OCT anatomy, imaging technique, normative values, monitoring of progression and the influence of artefacts on OCT measurements are matter of discussion. Knowledge of capabilities and pitfalls of RNF imaging with OCT should help to integrate this technique into daily patient routine...
July 6, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28681757/management-in-chordoid-glioma-avoiding-the-pitfalls-in-this-rare-and-challenging-entity
#12
Sergio Garcia-Garcia, Iban Aldecoa, Luis Alberto Caral, Enrique Ferrer, Teresa Ribalta, José Juan González-Sánchez
Chordoid glioma (CG) of the third ventricle is an unusual neoplasm of glial nature, which is almost exclusively located in the anterior wall of the third ventricle, in close relation with the hypothalamus. Magnetic resonance images show CG as a suprasellar, hypo- to isointense mass, homogeneously enhancing after the administration of gadolinium. Since its description in 1998 by Brat et al., approximately 85 cases have been reported. Some of its pathological features are under discussion and its histological origin still remains unclear...
July 2017: Neurology India
https://www.readbyqxmd.com/read/28678210/clinical-and-electrophysiological-evaluation-of-carpal-tunnel-syndrome-approach-and-pitfalls
#13
Mohammed H Alanazy
One of the most common referrals to the electrodiagnostic (EDX) laboratory is to confirm a clinical impression of carpal tunnel syndrome (CTS). The EDX studies are valuable in localizing median nerve abnormalities to the wrist, grading its severity, and excluding other condition that can mimic or coexist with CTS. However, there are many clinical and EDX pitfalls that can lead to misdiagnosis. Careful clinical assessment and attention to technical factors and details of the EDX techniques are fundamental for the quality and accurate interpretation of the study...
July 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28676493/identifying-large-indels-in-targeted-next-generation-sequencing-assays-for-myeloid-neoplasms-a-cautionary-tale-of-the-zrsr1-pseudogene
#14
Isaac Ks Ng, Christopher Ng, Jia Jin Low, Lily Chiu, Elaine Seah, Chin Hin Ng, Wee-Joo Chng, Benedict Yan, Kenneth Hk Ban
Targeted next generation sequencing platforms have been increasingly utilised for identification of novel mutations in myeloid neoplasms, such as acute myeloid leukaemia (AML), and hold great promise for use in routine clinical diagnostics. In this study, we evaluated the utility of an open source variant caller in detecting large indels in a targeted sequencing of AML samples. While we found that this bioinformatics pipeline has the potential to accurately capture large indels (>20 bp) in patient samples, we highlighted the pitfall of a confounding ZRSR1 pseudogene that led to an erroneous ZRSR2 variant call...
July 4, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28675347/rare-association-between-spinal-dural-arteriovenous-fistulas-and-dysraphisms-report-of-two-cases-and-review-of-the-literature-with-a-focus-on-pitfalls-in-diagnosis-and-treatment
#15
Talenti Giacomo, Vitale Giovanni, Cester Giacomo, Alessandro Della Puppa, Faggin Roberto, Causin Francesco
Spinal vascular malformations are uncommon yet important spinal pathologies commonly classified in congenital and acquired lesions. Spinal lipomas consist of three subtypes: intramedullary lipomas, lipomyelo(meningo)celes and lipomas of the filum. Although the association of spinal arteriovenous malformations (AVM) with other congenital anomalies is well known, the coexistence of dural arteriovenous fistulas (AVF) and tethered spinal cord is exceptionally rare and only eight cases have been reported. We present two cases from our institution and speculate on the possible origin of such a rare but insidious association...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28674346/diagnosis-and-treatment-of-traumatic-cerebrovascular-injury-pitfalls-in-the-management-of-neurotrauma
#16
Hitoshi Kobata
Traumatic cerebrovascular injury (TCVI) is an uncommon clinical entity in traumatic brain injury (TBI), yet it may cause devastating brain injury with high morbidity and mortality. Early recognition and prioritized strategic treatment are of paramount importance. A total of 1966 TBI patients admitted between 1999 and 2015 in our tertiary critical care center were reviewed. Screening of TCVI was based on the Guidelines for the Management of Severe Head Injury in Japan. TCVI was confirmed in 33 (1.7%) patients; 29 blunt and 4 penetrating injuries...
June 30, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28668112/pearls-and-pitfalls-autoimmune-lymphoproliferative-syndrome-and-autoimmune-lymphoproliferative-syndrome-like-disease
#17
Anne K Bartels, Taylor A Banks, Jeannie L Bay
A case of autoimmune lymphoproliferative syndrome (ALPS) was presented, followed by a discussion of the clinical characteristics, pathophysiology, diagnosis, and management of this disease. Clinical pearls and pitfalls are emphasized for the use of the practicing allergist and the fellow in-training. The diagnosis of ALPS was guided by published criteria. A careful history and workup were needed to exclude other possible etiologies for the patient's symptoms and physical findings. ALPS often carries significant morbidity and is best managed through a multidisciplinary approach...
July 1, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28664539/imaging-the-elusive-anomalous-origin-of-left-coronary-artery-from-pulmonary-artery
#18
Deepa Sasikumar, Bijulal Sasidharan, Baiju S Dharan, Sivasubramanian Sivasankaran, Kavasseri M Krishnamoorthy
A 7-year-old girl with severe mitral regurgitation and pulmonary artery hypertension with good ventricular function was planned for mitral valve repair, but was subsequently diagnosed to have anomalous left coronary artery from pulmonary artery. We describe the pitfalls in the diagnosis of this rare anomaly, particularly in the presence of severe pulmonary artery hypertension and absence of circumstantial evidence of coronary steal and ventricular dysfunction.
June 29, 2017: Echocardiography
https://www.readbyqxmd.com/read/28660993/diagnostic-pitfalls-of-adrenal-incidentaloma
#19
Ewa Cyrańska-Chyrek, Małgorzata Grzymisławska, Marek Ruchała
Adrenal incidentaloma (AI) includes all lesions with diameter ≥ 1 cm found incidentally during imaging examinations not associated with suspected adrenal pathology. Every adrenal incidentaloma requires a detailed hormonal and imaging assessment. Initial diagnosis includes radiological phenotypical evaluation (particularly in CT, or in case of contraindications - in MRI) and biochemical assessment of tumour hormonal activity (which includes cortisol circadian rhythm, salivary cortisol concentration, 24-hour urinary free-cortisol and metanephrines test, short cortisol and dexamethasone suppression test, ACTH level assessment, aldosterone and ARO concentration, adrenal androgen concentration)...
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28658793/mucoepidermoid-carcinoma-of-salivary-gland-limitations-and-pitfalls-on-fna
#20
Geetha Vasudevan, Arijit Bishnu, Brij Mohan Kumar Singh, Varun Kumar Singh
Mucoepidermoid Carcinoma (MEC) is the most common malignant neoplasm of salivary gland origin. However, its morphologic heterogeneity poses difficulty in interpretation. In the present series we discuss the morphologic features of MEC, limitations and pitfalls in its diagnosis on Fine Needle Aspiration Cytology (FNAC). Fourteen cases of suspected MEC were evaluated cytologically followed by histopathological examination for confirmation. A definite cytological diagnosis was rendered in nine cases; three of the remaining five were underdiagnosed as abscess, pleomorphic adenoma and mucus cyst...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
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