Search results for " DIAGNOSIS"
showing 10 items of 1378 documents
PRENATAL DIAGNOSIS OF X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCID) BY FLOWCYTOMETRIC INVESTIGATION OF FETAL BLOOD
1987
Prenatal diagnosis of SCID has until now been limited due to the inability of obtaining sufficient fetal blood volumes for immunological investigation. - We report the diagnosis of x-linked SCID at 19 weeks of gestation by using 200μl fetal blood for flowcytometrio evaluation. Amniocentesis was performed in the 17th week of pregnancy on a 36 year old woman with positive family history for X-linked SCID. chromosome analysis revealed a normal male caryotype. To confirm the suspected diagnosis of SCID a fetal blood sample was taken by puncturing the umbilical cord vein under sonographic control at 19 weeks of gestation. 300μl were used to perform chromosome analysis, the remaining 200μl were p…
Specific (granulomatous) oral lesions of sarcoidosis : report of two cases
2010
Sarcoidosis is a multisystemic granulomatous disease of unknown etiology that usually presents with bilateral hiliar adenopathies, pulmonary infiltrations, and ocular and cutaneous lesions. The specific cutaneous lesions, or granulomatous, are produced in from 9% to 37% of patients with systemic sarcoidosis. Nevertheless, few patients have been described having specific lesions from sarcoidosis in the oral mucous membrane. We present 2 patients with systemic sarcoidosis who developed specific sarcoidosis lesions in the oral mucous membrane. The first patient presented a plaque on the tongue of a chronic nature associated with facial lupus pernio. The second patient presented a rapidly growi…
Hyperspectral imaging reveals spectral differences and can distinguish malignant melanoma from pigmented basal cell carcinomas : A pilot study
2021
Pigmented basal cell carcinomas can be difficult to distinguish from melanocytic tumours. Hyperspectral imaging is a non-invasive imaging technique that measures the reflectance spectra of skin in vivo. The aim of this prospective pilot study was to use a convolutional neural network classifier in hyperspectral images for differential diagnosis between pigmented basal cell carcinomas and melanoma. A total of 26 pigmented lesions (10 pigmented basal cell carcinomas, 12 melanomas in situ, 4 invasive melanomas) were imaged with hyperspectral imaging and excised for histopathological diagnosis. For 2-class classifier (melanocytic tumours vs pigmented basal cell carcinomas) using the majority of…
Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management
2013
Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is…
A review of oral biopsies in children and adolescents: a clinicopathological study of a case series
2013
Objective: The aim of this study was to evaluate the clinicopathological features of oral lesions in children and adolescents diagnosed in an Oral Pathology Laboratory. Study design: Between 2000 and 2010, all oral lesions diagnosed in patients younger than 18 years old, from the Oral Pathology Laboratory, Federal University of Pernambuco, Brazil, were selected for the study. The clinical data were obtained from the patient charts filed in the Laboratory. All cases were microscopically reviewed and the diagnosis classified into 10 categories. Results: From the 2395 lesions, 315 (13.1%) occurred in this age group. The lesions were more common in the female gender (59%) during the second deca…
Solitary Fibrous Tumor of the Lower Leg: A Rare and Difficult Diagnosis
2015
Summary: Solitary fibrous tumor (SFT) is a rare neoplasm that commonly originates in the pleura. Extrapleural locations are rare and for this reason sometimes difficult to diagnose. Malignant forms with local recurrence or distant metastases have been reported, also as a consequence of inappropriate treatment. In this article, we report the case of an SFT of the lower leg in a 37-year-old man. Leg SFT is a rare occurrence, and differential diagnosis may be difficult because they can mimic a variety of benign and malignant mesenchymal tumors; immunohistochemical analysis for CD34, CD99, vimentin, and Bcl-2 is necessary. Misdiagnosis carries a significant risk of inadequate removal with subse…
Gingival calcifying epithelial odontogenic tumor: case report and review of the literature comprising a period of 44 years
2011
Calcifying epithelial odontogenic tumors are rare odontogenic neoplasms that account for approximately 1% of all odontogenic tumors. The extraosseous variant is extremely rare, with only few cases being described in the literature. To our knowledge, only 22 cases have been reported over a period of 44 years. Therefore, the aim of this study was to present a critical literature review comprising the period from 1966 to 2010. In addition, we discuss the clinical presentation, diagnosis, and subsequent treatment of a patient with a gingival calcifying epithelial odontogenic tumor in the anterior mandible. This study shows that even though being an extremely rare neoplasm the gingival calcifyin…
Computer-Assisted Classification Patterns in Autoimmune Diagnostics: The AIDA Project.
2016
International audience; Antinuclear antibodies (ANAs) are significant biomarkers in the diagnosis of autoimmune diseases in humans, done by mean of Indirect ImmunoFluorescence (IIF) method, and performed by analyzing patterns and fluorescence intensity. This paper introduces the AIDA Project (autoimmunity: diagnosis assisted by computer) developed in the framework of an Italy-Tunisia cross-border cooperation and its preliminary results. A database of interpreted IIF images is being collected through the exchange of images and double reporting and a Gold Standard database, containing around 1000 double reported images, has been settled. The Gold Standard database is used for optimization of …
Inflammatory and tumor-like lesions of the pancreas
2020
Summary Inflammatory/tumor-like lesions of the pancreas represent a heterogeneous group of diseases that can variably involve the pancreatic gland determining different signs and symptoms. In the category of inflammatory/tumor-like lesions of the pancreas, the most important entities are represented by chronic pancreatitis, which includes alcoholic, obstructive and hereditary pancreatitis, paraduodenal (groove) pancreatitis, autoimmune pancreatitis, lymphoepithelial cyst, pancreatic hamartoma and intrapancreatic accessory spleen. An in-depth knowledge of such diseases is essential, since they can cause severe morbidity and may represent a potential life-threatening risk for patients. Furthe…
Die Rosai-Dorfman-Lymphadenopathie, eine seltene reaktive lymphoproliferative Erkrankung
2008
Aim The established criteria for benignity or malignancy of lymph nodes when evaluated with B-mode ultrasound can be divided into quantitative measures (size, quantity, contour and density) and qualitative parameters (configuration and structure). The validity of these criteria is controversial. Methods Two cases of sinus histiocytosis with massive lymphadenopathy (SHML) are presented; this is a rare benign reactive disorder in which massive enlargement of cervical lymph nodes often occurs. These enlarged nodes offer a chance to demonstrate and discuss the validity of the sonomorphological criteria. Results The enlarged lymph nodes in SHML fulfill most of the criteria for malignancy. The sa…