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In JoVE (1)
Other Publications (3)
Articles by Alexandru C. Barboi in JoVE
JoVE Clinical and Translational Medicine
Performing and Processing FNA of Anterior Fat Pad for Amyloid
1Department of Pathology, Medical College of Wisconsin, 2Current Address: Department of Pathology, Wayne State University School of Medicine Detroit Medical Center, 3Department of Neurology, Medical College of Wisconsin, 4Department of Medicine, Medical College of Wisconsin, 5Division of Neoplastic Diseases and Related Disorders, Medical College of Wisconsin
Fat pad aspiration is a preferred, minimally invasive, and low cost approach as compared to other methods to detect amyloid for diagnosis of systemic amyloidosis. This video article demonstrates a procedural outline for performing fat pad aspiration with appropriate processing of the specimen for the optimal diagnostic outcome.
Other articles by Alexandru C. Barboi on PubMed
The Origins of Scientific Cinematography and Early Medical Applications
To examine the neurologic cinematographic contributions of Gheorghe Marinescu.
Electrodiagnostic Testing in Neuromuscular Disorders
For the past approximately six decades, electrodiagnostic testing orelectrodiagnosis (EDX) has played an increasingly important role in the clinical evaluation of patients who have neuromuscular disorders. This in part is because of a greater understanding of the pathophysiology of these disorders. Also of importance is the development of the techniques themselves, beginning with basic needle electromyography (EMG) and electroneurography (or nerve conduction studies) (NCS) in the 1940s. Today the clinician has a larger menu of testing options, including somatosensory evoked potentials,quantitative EMG, single fiber EMG, and autonomic testing. The advent of computers has added speed and accuracy to testing
Genetic Risk Factors Associated with Lipid-lowering Drug-induced Myopathies
Lipid-lowering drugs produce myopathic side effects in up to 7% of treated patients, with severe rhabdomyolysis occurring in as many as 0.5%. Underlying metabolic muscle diseases have not been evaluated extensively. In a cross-sectional study of 136 patients with drug-induced myopathies, we report a higher prevalence of underlying metabolic muscle diseases than expected in the general population. Control groups included 116 patients on therapy with no myopathic symptoms, 100 asymptomatic individuals from the general population never exposed to statins, and 106 patients with non-statin-induced myopathies. Of 110 patients who underwent mutation testing, 10% were heterozygous or homozygous for mutations causing three metabolic myopathies, compared to 3% testing positive among asymptomatic patients on therapy (P = 0.04). The actual number of mutant alleles found in the test group patients was increased fourfold over the control group (P < 0.0001) due to an increased presence of mutation homozygotes. The number of carriers for carnitine palmitoyltransferase II deficiency and for McArdle disease was increased 13- and 20-fold, respectively, over expected general population frequencies. Homozygotes for myoadenylate deaminase deficiency were increased 3.25-fold with no increase in carrier status. In 52% of muscle biopsies from patients, significant biochemical abnormalities were found in mitochondrial or fatty acid metabolism, with 31% having multiple defects. Variable persistent symptoms occurred in 68% of patients despite cessation of therapy. The effect of statins on energy metabolism combined with a genetic susceptibility to triggering of muscle symptoms may account for myopathic outcomes in certain high-risk groups.
