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Isolated Finding (isolated + finding)
Selected AbstractsA medieval example of a sagittal cleft or ,butterfly' vertebraINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 6 2003T. Anderson Abstract A mature adult medieval male with a rare congenital anomaly, a sagittal-cleft or butterfly vertebra, is presented. Clinical cases are frequently associated with axial as well as soft-tissue defects. The present case, based only on skeletal evidence, appears to be an isolated finding. The aetiology of the clefting is outlined and palaeopathological evidence for the condition is included. Copyright © 2003 John Wiley & Sons, Ltd. [source] Exercise-Induced Nonsustained Ventricular Tachycardia: A Significant Marker of Coronary Artery Disease?JOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 3 2002MARTIN FEJKA M.D. Diagnostic exercise stress testing is commonly performed in patients with known or suspected cardiovascular disease. The significance of an ischemic response, manifested as significant ST-segment depression, angina pectoris, transient myocardial perfusion abnormalities, or combinations thereof, is well established. However, the diagnostic implications of exercise-induced nonsustained VT are uncertain, especially as an isolated finding. The patient had threatening ventricular arrhythmias at peak exercise without an ischemic response. Subsequent cardiac catheterization revealed significant CAD requiring percutaneous coronary intervention. [source] Clinical overview of the synucleinopathiesMOVEMENT DISORDERS, Issue S6 2003Maria J. Martí MD Abstract The term synucleinopathies is used to name a group of neurodegenerative disorders characterized by fibrillary aggregates of ,-synuclein protein in the cytoplasm of selective populations of neurons and glia. These disorders include Parkinson's disease (PD), dementia with Lewy bodies (DLB), pure autonomic failure (PAF), and multiple system atrophy (MSA). Clinically, they are characterized by a chronic and progressive decline in motor, cognitive, behavioural, and autonomic functions, depending on the distribution of the lesions. Because of clinical overlap, differential diagnosis is sometimes very difficult. Parkinsonism is the predominant symptom of PD, but it can be indistinguishable from the parkinsonism of DLB and MSA. Autonomic dysfunction, which is an isolated finding in PAF, may be present in PD and DLB, but is usually more prominent and appears earlier in MSA. DLB could be the same disease as PD but with widespread cortical pathological states, leading to dementia, fluctuating cognition, and the characteristic visual hallucinations. The deposition of aggregates of synuclein in neurons and glia suggests that a common pathogenic mechanism may exist for these disorders. Even though synuclein may play an important role in disease development in these disorders, in light of the different symptom complex and prognosis and management issues that characterize each disorder, we think that the term synucleinopathy has little practical value as a diagnostic term for the clinician. Clinicians should attempt to reach standard clinical diagnosis on patients, such as PD, PAF, or MSA. © 2003 Movement Disorder Society [source] Mosaic Chromosome 6 Trisomy in an Epidermal NevusPEDIATRIC DERMATOLOGY, Issue 2 2007Glenda J. Sobey F.C.Derm. Mosaicism for chromosome 6 in skin fibroblasts of affected skin was discovered. Trisomy 6 has not been previously implicated as an isolated finding in epidermal nevi or cutaneous mosaicism. [source] Use of Laboratory Evaluation and Radiologic Imaging in the Diagnostic Evaluation of Children With Sensorineural Hearing Loss,THE LARYNGOSCOPE, Issue 1 2002Derek D. Mafong BS Abstract Objective Laboratory testing and radiologic imaging are commonly used to delineate syndromic from nonsyndromic sensorineural HL (SNHL). The aim of this study was to examine the yield of laboratory tests and radiologic imaging commonly used in the diagnostic evaluation of SNHL in children. Study Design Retrospective analysis of 114 (54 female, 60 male) consecutively investigated children with SNHL between 1998 and 2000 at a tertiary-care university hospital. Methods Results of routine laboratory testing to assess autoimmunity, blood dyscrasias, endocrine abnormalities, renal function, infection, and cardiac testing were reviewed. Results of radiologic evaluation were also reviewed. In general, computed tomography (CT) was obtained in patients with symmetric SNHL, whereas magnetic resonance imaging (MRI) with or without CT was obtained in asymmetric SNHL. Results Laboratory evaluation of the blood did not yield the etiology of SNHL in any patient. Blood tests for autoimmune disease were often positive but did not correlate with clinical disease. Nonspecific elevation of erythrocyte sedimentation rate (ESR) and antinuclear antibody (ANA) was present in 22% of cases. An abnormal electrocardiogram with a prolonged QT interval resulted in the diagnosis of Jervall and Lange-Nielsen syndrome. In the 97 patients who underwent radiologic studies, abnormalities were present in 38 of 97 studies (39%). Isolated inner ear malformations were twice as common as multiple abnormalities with large vestibular aqueducts as the most common isolated finding. Conclusion In the evaluation of children with unexplained SNHL, routine laboratory evaluation should be reconsidered given its low diagnostic yield. However, radiologic abnormalities of the inner ear are common. Identification of inner ear malformations has direct impact on management of these children, suggesting that all children should undergo radiologic imaging as an integral component of evaluation of SNHL. [source] The association of split hand foot malformation (SHFM) and congenital heart defects,BIRTH DEFECTS RESEARCH, Issue 6 2008Alison M. Elliott Abstract BACKGROUND: Split hand foot malformation (SHFM) (cleft hand, central ray deficiency) is a highly variable malformation that shows genetic heterogeneity with at least five loci mapped to date. SHFM occurs as an isolated finding or in association with other anomalies, including congenital heart defects (CHDs). METHODS: In total 48 SHFM1, 52 SHFM3, 48 SHFM4, 21 SHFM5, and four chromosome 8 patients were evaluated. In addition, we performed a literature review to identify "unmapped" SHFM patients with CHD to evaluate the various etiologies of this combination of findings. The London Dysmorphology Database also served as a resource to identify syndromes with this combination of phenotypic findings. Only patients presenting with both SHFM and CHD were included in the analysis. Classification of CHD among mapped and unmapped SHFM patients was performed utilizing the revised Clark classification. A closer inspection of the types of CHD found in this patient group was performed in order to investigate possible pathogenetic mechanisms. RESULTS: CHDs were found in 10% of SHFM1 patients, 47% of SHFM5 patients, but were not reported in SHFM2, SHFM4 patients, or patients mapped to chromosome 8. Forty-two syndromic cases and 15 cases of unrecognized syndromes were identified. CONCLUSIONS: The higher frequency of heart defects seen in SHFM1 and SHFM5 of the mapped patient group raises the question as to whether common mechanisms/genetic players are involved. Candidate genes for SHFM1 and SHFM5 include members of the DLX homeobox gene family. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source] | ||||||||||