Search results for " DIAGNOSIS"
showing 10 items of 1378 documents
Superficial Siderosis of the Central Nervous System associated with Hemophilia A: A case report
2021
Abstract Superficial Siderosis of the Central Nervous System (SSCNS) is a condition secondary to the deposition of hemosiderin within the subpial layers of central nervous system leading to its progressive degeneration, clinically responsible for hearing impairment, cerebellar ataxia and pyramidal syndrome. Here we report the case of a 61-year-old man with medical history of congenital hemophilia A presenting with typical clinical features of SSCNS associated with extensive hypo-intensity on fast 2D gradient-echo-weighted sequences, along the spinal cord, posterior fossa's structures and cerebral cortex. Interestingly, although his disorder was revealed by a lumbar spinal stenosis, presurgi…
Metastatic seeding of colon adenocarcinoma manifesting as synchronous breast and chest wall localization: report of a case.
2011
Colon carcinoma rarely metastasizes to the breast and it is usually associated with a poor prognosis. Even rarer is metastatic seeding of colon cancer cells in an intramammary location after surgery. Including a primary breast malignancy in the differential diagnosis of such cases is mandatory. We report a rare case of double seeding implantation of colon adenocarcinoma inside the breast parenchyma and intercostal muscles 6 years after resection of a pulmonary metastasis from colon adenocarcinoma. The metastasis was revealed by the presence of bone metaplasia in the intercostal muscles. We discuss how negative immunostaining for estrogen receptors, progesterone receptors, and HER-2, along w…
Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review
2019
AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the …
Carcinoma of the tongue and bulbar-onset amyotrophic lateral sclerosis: unusual differential diagnosis.
2007
We present a 72-year-old woman with progressive dysphagia, dysarthria and tongue palsy who was initially diagnosed with bulbar-onset amyotrophic lateral sclerosis (ALS). However, the absence of atrophy or fasciculations in the tongue, as in other voluntary muscles, and the lack of reproducible neurophysiological evidence of denervation, prompted a revision of the diagnostic work-up, which eventually led to the discovery of a carcinoma of the tongue. This case report describes a relatively rare type of oropharyngeal carcinoma that, in its early stage, resembled a bulbar-onset ALS. This differential diagnosis is unusual, and it was fostered by the persistent lack of atrophy of the tongue and …
Computer-aided diagnosis in digital mammography: comparison of two commercial systems
2014
Aim: Within this work, a comparative analysis of two commercial computer-aided detection or diagnosis (CAD) systems, CyclopusCAD® mammo (v. 6.0) produced by CyclopusCAD Ltd (Palermo, Italy) and SecondLook® (v. 6.1C) produced by iCAD Inc. (OH, USA) is performed by evaluating the results of both systems application on an unique set of mammographic digital images routinely acquired in a hospital structure. Materials & methods: The two CAD systems have been separately applied on a sample set of 126 mammographic digital cases, having been independently diagnosed by two senior radiologists. According to the human diagnosis, the cases in the sample reference set are divided into 61 negatives and 6…
Gastrointestinal stromal tumors (GISTs): Focus on histopathological diagnosis and biomolecular features
2007
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract that are believed to originate from a neoplastic transformation of the intestinal pacemaker cells (interstitial cells of Cajal) normally found in the bowel wall or their precursors. Although the microscopic features have been known for a long time, the defining characteristic of GIST is the presence of the cell-surface antigen CD117 (KIT), which is demonstrated by immunohistochemistry. KIT, which is a growth factor transmembrane receptor, is the product of the proto-oncogene c-kit (chromosome 4). Surgical removal remains the only curative treatment for patients with GISTs. Tumor size, mitotic index,…
Oral peripheral nerve sheath tumors : a clinicopathological and immunohistochemical study of 32 cases in a Brazilian population
2017
Background Oral peripheral nerve sheath tumors (OPNSTs) are reactive or neoplastic diseases that develop from proliferation of the nerve itself or their limiting sheaths. Here we describe the clinicopathologic data of OPNSTs observed in a sample of the Brazilian population and evaluate the expression of molecules associated with neural biology to determine their usefulness in the diagnosis. Material and methods Descriptive study of cases diagnosed as OPNSTs, from the Pathology Laboratory at the School of Dentistry/ Federal University of Uberlandia, followed by an immunohistochemical study of S-100, CD57, neurofilament protein (NFP) and epithelial membrane antigen (EMA). Results OPNSTs compr…
Usefulness of DNA quantification in diagnosis of hypertrophic cardiomyopathies
2006
Hypertrophic cardiomyopathies (HCM) are a frequent cause of sudden death in both young people and adults. Different cardiomyopathies can be distinguished according to the etiological agent and, although there are morphological differences too, alterations in the quantity of DNA in the cardiomyocytes may play an important role in their pathogenesis and evolution. To understand the characteristics and the behaviour of the DNA index in hypertrophic cardiomyopathies, we have studied thirty cases (10 primaries or essential, 10 hypertensives and 10 toxic) and compared the results with those obtained for 10 macroscopically normal hearts. The results showed that the different cardiomyopathies were …
Pleomorphic cutaneous Rosai-Dorfman disease.
2016
we report three cases of pure cutaneous Rosai-Dorfman disease (RDD) showing prominent nuclear pleomorphism. This unusual finding confers a worrisome appearance to these lesions, challenging their recognition and creating difficulty in the differential diagnosis with malignant neoplasms. This article is protected by copyright. All rights reserved.
Psammomatous malignant melanoma arising in an intradermal naevus
2001
Psammomatous malignant melanoma arising in an intradermal naevus Aims: A wide variety of differentiation patterns may be found in malignant melanoma. Schwannian features are unusual, and mostly present in the desmoplastic variant. We report the first description of psammoma bodies in malignant melanoma. Methods and results: A malignant melanoma arose in an intradermal naevus of the scalp in a 51-year-old woman, displaying focal neural-like features in the form of rosette-like pseudo-meissnerian alveolar nests, as well as numerous psammoma bodies grouped in a few areas. Tumour cell immunostaining for S100, HMB45, NKI-C3, and vimentin was detected. In addition, both malignant and benign melan…