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Clinical Work-up (clinical + work-up)
Selected AbstractsNeurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defectsEUROPEAN JOURNAL OF NEUROLOGY, Issue 8 2006S. Buoni We evaluated a 11-year-old male patient with mental delay, autism and brownish and whitish skin spots. The former resembled those of neurofibromatosis, the latter those of tuberous sclerosis. The patient received a complete clinical work-up to exclude neurofibromatosis, tuberous sclerosis, or any other known neurocutaneous disease, with biochemistry, chromosome analysis and analysis of skin specimens. Being all the other tests not significant, two main ultrastructural defects were observed. The first was a blockage in intracellular vescicular trafficking with sparing of the mitochondria; the second an aberrant presence of melanosomes in vacuoles of several cell lines and abnormal transfer of these organelles to keratinocytes. This patient presented with a unique clinical picture distinct from neurofibromatosis or tuberous sclerosis or any other known neurocutaneous disease. The ultrastructural abnormalities suggested a defect in cell trafficking involving several cell lines and compartments. [source] Prevalence and cognitive impact of cerebrovascular findings in Alzheimer's disease: a retrospective, naturalistic studyINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 2 2009N. Tabet Summary Aims:, Cerebrovascular disease (CVD) is a major risk factor for cognitive decline associated with progression to Alzheimer's disease (AD) and dementia. The objective of this study was to retrospectively assess the prevalence of CVD and its cognitive impact in patients with AD in everyday clinical practice. Methods:, Medical notes were retrospectively reviewed for all individuals who presented at East Sussex Memory Clinic (2004,2008) for investigation of cognitive impairment and had brain magnetic resonance imaging (MRI) as part of their clinical work-up. Global cognitive status was assessed with Mini-Mental State Examination (MMSE) and Cambridge Cognitive Examination. The extent of cerebrovascular abnormalities was qualitatively evaluated with MRI. Results:, Notes were reviewed for 232 patients (109 males, 123 females), mean age 76 years (range 62,93), who underwent MRI. Of these, 167 (72%) patients were diagnosed with AD. CVD was present in 89% of AD patients and 47% of patients had moderate to severe cerebrovascular abnormalities. The majority of patients (57%) had MMSE scores in the 21,26 range, indicative of mild AD. There was a trend towards worse cognitive status in patients with more severe CVD, which did not reach significance. Hachinski Ischaemic score indicated these patients did not have vascular dementia (VaD) (mean ± standard deviation 1.1 ± 1.3). Conclusion:, These findings, based on qualitative MRI, indicate that cerebrovascular pathology is a very common associated feature in patients with mild to moderate AD, without VaD. Although the study suggests that CVD does not contribute to cognitive decline, and is not associated with the development of VaD, a non-significant trend was observed towards worsening cognitive status with increasing severity of CVD. The finding of this trend suggests a need for additional research, especially a prospective quantitative method of assessing CVD, to improve our understanding of how CVD contributes to cognitive impairment in AD. [source] Detection and differential diagnosis of hepatic masses using pulse inversion harmonic imaging during the liver-specific late phase of contrast enhancement with levovistJOURNAL OF CLINICAL ULTRASOUND, Issue 4 2002Cem Yücel MD Abstract Purpose The purpose of this study was to investigate whether late-phase pulse inversion harmonic imaging (PIHI) increases conspicuity in hepatic masses, helps to differentiate benign from malignant lesions, and demonstrates a greater number of and smaller metastatic lesions than do conventional (fundamental) sonography and helical CT. Methods Thirty patients (17 women and 13 men; age range, 35,77 years; mean age, 54 years) with known or suspected liver masses were evaluated using both fundamental sonography and contrast-enhanced PIHI during the liver-specific late phase of Levovist. The patients also underwent contrast-enhanced triphasic helical CT examinations within 1 week after sonography. In 4 of the patients, gadolinium-enhanced MRI was also performed as a part of their clinical work-up. Results The increase in the lesions' conspicuity on PIHI compared with fundamental sonography was significantly greater in malignant lesions than in benign lesions (p< 0.001). An echogenic rim was observed on PIHI in 8 (53%) of 15 malignant lesions. The mean number of metastatic lesions visualized on PIHI (5.5 ± 5.3) was significantly higher than the mean number visualized on fundamental sonography (2.5 ± 2.1, p < 0.05). Although lesions as small as 3 mm were observed on PIHI, the mean sizes of the smallest lesions demonstrated using fundamental sonography, PIHI, and helical CT were not significantly different. Conclusions Late-phase PIHI is a useful technique for characterizing hepatic lesions and demonstrating both a greater number of and smaller metastases. It may help to differentiate benign from malignant liver masses and may obviate unnecessary and expensive further imaging. © 2002 Wiley Periodicals, Inc. J Clin Ultrasound 30:203,212, 2002; Published online in Wiley InterScience (www.interscience. wiley.com). DOI: 10.1002/jcu.10053 [source] Lifestyle-related risk factors for Parkinson's disease: a population-based studyACTA NEUROLOGICA SCANDINAVICA, Issue 4 2003M. Baldereschi Objectives , To investigate the association of major lifestyle-related risk factors with the prevalent cases of Parkinson's disease (PD) identified by the Italian Longitudinal Study on Aging. Methods , A total of 5632 individuals randomly selected from the population registers of eight centers were screened for parkinsonism using both a questionnaire and a neurologic examination. Screened positives underwent a structured clinical work-up for the diagnosis of parkinsonism and parkinsonism subtypes. Results , We identified 113 prevalent cases of PD. Age, male gender, and pesticide-use license were significantly related to PD. Heavy smoking was inversely related to PD. Age (OR = 1.1; 95% CI, 1.06,1.15) and pesticide-use license (OR = 3.7; 95% CI, 1.6,8.6) kept their significant correlation with the disease in the multivariate analysis to adjust for all the variables under investigation. Multivariate analyses were made for men and women separately: pesticide exposure was positively associated with PD only in men. Conclusions , Pesticide exposure might represent a candidate for environmental factors involved in PD. [source] Identifying problematic severe asthma in the individual child , does lung function matter?,ACTA PAEDIATRICA, Issue 3 2010AM Lang Abstract Aim:, Measures of lung function (usually FEV1 <80% predicted) are used to classify asthma severity in both adults and children, despite evidence that lung function impairment is less pronounced in the paediatric asthma population. The present study assesses the relevance of lung function measurements as discriminators of severe childhood asthma. Methods:, Fifty-one school-aged children with problematic severe asthma, 37 mild-to-moderate asthmatics and 29 healthy controls underwent a comprehensive clinical work-up. Problematic severe asthma was defined in patients exhibiting poor asthma control despite high-dose inhaled corticosteroid treatment and at least one other asthma controller drug. Mild-to-moderate asthmatic children used low-dose inhaled steroids and reported minimal asthma symptoms. Results:, Baseline FEV1 values were significantly reduced in children with problematic severe asthma, yet FEV1 <80% predicted showed a low sensitivity (41%) for discriminating severe vs. mild-to-moderate asthma. Receiver-operated characteristic analysis estimated the optimal cut-off of FEV1 to be 90% predicted in this population (sensitivity 61%, specificity 83%). Baseline FEV1/FVC and FEF25,75 values were not superior to FEV1 in discriminating problematic severe asthma, and neither exhaled nitric oxide levels nor bronchial hyperresponsiveness differentiated between the two asthmatic study populations. Conclusion:, Spirometric measurements are insensitive discriminators of problematic severe asthma in childhood. [source] | ||||||||||