Alexandru C. Barboi

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Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known.(More)
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(More)
BACKGROUND Cyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder that is characterized by recurrent episodes of intense vomiting. There are several postulated mechanisms involved in its pathogenesis and one potential explanation for this disorder may be linked to autonomic dysfunction. The aim of our study was to evaluate autonomic nerve(More)
OBJECTIVES Autonomic dysfunction is associated with a wide variety of gastrointestinal symptoms. It is unclear how many patients with autonomic dysfunction have slow or rapid gastric emptying. The aim of this study was to determine the prevalence of rapid and delayed solid phase gastric emptying in patients with autonomic dysfunction referred for evaluation(More)
INTRODUCTION Of the nearly 38 million people in the USA who receive statin therapy, 0.1-0.5% experience severe or life-threatening myopathic side effects. METHODS We performed a genome-wide association study (GWAS) in a group of patients with severe statin myopathy versus a statin-tolerant group to identify genetic susceptibility loci. RESULTS(More)
OBJECTIVE Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. METHODS DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf(More)
OBJECTIVE To examine the neurologic cinematographic contributions of Gheorghe Marinescu. BACKGROUND Near the end of the 19th century, cinematography developed and was immediately recognized as a new technique applicable to medical documentation. After studying with several prominent European neurologists and deeply influenced by Jean-Martin Charcot,(More)
Historically, heart, liver, and kidney biopsies were performed to demonstrate amyloid deposits in amyloidosis. Since the clinical presentation of this disease is so variable and non-specific, the associated risks of these biopsies are too great for the diagnostic yield. Other sites that have a lower biopsy risk, such as skin or gingival, are also relatively(More)
OBJECTIVES To define the clinical, electrophysiological, and pathologic features of the myopathy associated with the use of HMG CoA reductase inhibitors. METHODS Five patients with myopathy associated with HMG CoA reductase inhibitors were evaluated. Complete histories, physical examinations, manual muscle testing, serum creatine kinase, urine myoglobin(More)
We present a case of Ehlers-Danlos Syndrome (EDS) type IV with associated neuromuscular manifestations. The patient presented with nonspecific myopathic-type symptoms and later developed a spontaneous median mononeuropathy in the forearm. We believe that the case presented here complements current published neuromuscular manifestations occurring in EDS IV(More)