Search results for "Differential diagnosis"
showing 10 items of 404 documents
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
2014
The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…
Bladder tumor staging: comparison of contrast-enhanced and gray-scale ultrasound
2009
OBJECTIVE. The purpose of this study was to evaluate the effectiveness of contrast-enhanced sonography in comparison with conventional sonography in differentiating muscle- infiltrating and superficial neoplasms of the urinary bladder. SUBJECTS AND METHODS. Conventional and contrast-enhanced sonography were performed on 34 consecutively registered patients with bladder tumors. All examinations were reviewed by two independent sonologists. At gray-scale sonography, interruption of the hyperechoic bladder wall was considered the main diagnostic criterion for differentiating superficial and infiltrating tumors. At contrast-enhanced sonography, a tumor was considered superficial when the hypoen…
Resurgence of syphilis:a diagnosis based on unusual oral mucosa lesions
2009
Background Known as “the great imitator,” secondary syphilis may clinically manifest itself in myriad of ways, involving different organs (including the oral cavity), and mimicking, both clinically and histologically, several diseases, thereby making diagnosis a challenge for clinicians. Case report We highlight an interesting case of a 45-year-old man on whose diagnosis of secondary syphilis was based on the presence of unusual oral lesions, consisting of a well delimited, raised, nonhomogeneous, and corrugated white plaque on the right buccal mucosa which mimicked, clinically and histologically, a “leukoplakia-like” plaque and several whitish oral mucous patches localized on the lower lab…
Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and manag…
2018
Abstract The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists’ contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations. Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD. Guidelines, however, should…
Management of Graves‘Thyroidal And Extrathyroidal Disease – An Update
2020
Abstract Context Invited update on the management of systemic autoimmune Graves disease (GD) and associated Graves orbitopathy (GO). Evidence acquisition Guidelines, pertinent original articles, systemic reviews, and meta-analyses. Evidence synthesis Thyrotropin receptor antibodies (TSH-R-Abs), foremost the stimulatory TSH-R-Abs, are a specific biomarker for GD. Their measurement assists in the differential diagnosis of hyperthyroidism and offers accurate and rapid diagnosis of GD. Thyroid ultrasound is a sensitive imaging tool for GD. Worldwide, thionamides are the favored treatment (12-18 months) of newly diagnosed GD, with methimazole (MMI) as the preferred drug. Patients with persistent…
Psychogenic nonepileptic seizures in pediatric population: A review
2019
Abstract Introduction Psychogenic nonepileptic seizures (PNES) are observable abrupt paroxysmal changes in behavior or consciousness that resemble epileptic seizures, but without concurrent electroencephalographic abnormalities. Methods In this manuscript, we reviewed literature concerning pediatric PNES and focused on those articles published in the last 10 years, in order to try to understand what the state of the art is at the moment, particularly as regards relationship and differential diagnosis with epilepsy. Results Psychogenic nonepileptic seizures have been extensively described in literature mainly in adults and less frequently in children. Despite the potential negative impact of…
Clinico-diagnostic features of neuralgic amyotrophy in childhood
2020
Neuralgic amyotrophy (NA), even known as Personage-Turner's syndrome (PTS), is a neurologic condition, affecting the lower motor neurons of brachial plexus and/or individual nerves or nerve branches, characterized by pain, muscle weakness/atrophy, and sensory symptoms. NA has an acute/subacute onset, after an infection or vaccination; it is more common in male and is rare in the pediatric population. The etiology remains uncertain, being considered heterogeneous and multifactorial. A severe acute neurologic pain around the shoulder girdle is the classic presenting symptom at onset. As the pain subsides, weakness and paresis develop. NA is usually unilateral, but sometimes, a subclinical con…
Interactive computerized morphometric analysis for the differential diagnosis between dysplasia and well differentiated adenocarcinoma of the prostate
1989
To distinguish prostatic dysplasia (or adenosis) from well differentiated adenocarcinoma on transrectal needle biopsy, a morphometric study was conducted on 20 cases of adenosis and 20 cases of well differentiated adenocarcinoma of the prostate. About 100 cells for each patient were analyzed by means of a computerized image analyzer, and mean nuclear diameter, mean nuclear area, mean form factor and number of cells in eight classes of nuclear diameter were studied. The best predictors of malignancy (evaluated by means of Receiver Operating Characteristics curves) were mean nuclear area greater than 28 mu2, presence of more than 5% of cells with nuclear diameter greater than 6.15 mu, and mea…
IgG4 Related Syndrome: Another Multiorgan Disease in the Interest Field of Internal Medicine.
2016
BACKGROUND: IgG4-related disease is a rare, clinical and pathologic disease entity of unknown etiology. Its main features are increased serum concentrations of IgG4 > 1,35 g/l, lymphocyte and IgG4+plasma-cell infiltration within tissues, fibrosis or sclerosis. The classical presentation of IgG4-RSD is pancreatitis which is combined with the involvement of biliary ducts in 74 percent of patients. Extrapancreatic manifestations include: abdominal or mediastinal lymphadenopathy; the involvement of salivary glands and lacrimal glands, kidneys, lung, retroperitoneum. Since IgG4-related disease is a multiorgan lymphoproliferative syndrome, it requires a careful differential diagnosis from othe…
Intrathyroidal Thymic Tissue Surrounding an Intrathyroidal Parathyroid Gland, the Cause of a Solitary Thyroid Nodule in a 6-Year-Old Boy
2008
Ectopic intrathyroidal thymic tissue is a rare occurrence; parathyroid glands sometimes occur in an intrathyroidal location, but this is uncommon. We report a 6-year-old boy who was noted to have a solitary thyroid nodule on ultrasound. A hemithyroidectomy was performed, and histological investigation revealed that the nodule consisted of ectopic intrathyroidal thymus tissue surrounding a well-defined parathyroidal gland. This condition is an exceedingly rare cause of a thyroid nodule, but intrathyroidal thymic tissue should probably be included in the differential diagnosis of solitary thyroid nodules.