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We studied phenotype-genotype correlation in a group of Polish males with spinal and bulbar muscular atrophy (SBMA) and in female carriers. Eleven males with suspected SBMA phenotype and three suspected female carriers were examined. Male patients presented with the predominant signs of progressive, symmetrical distal limb weakness with amyotrophy, facial(More)
Magnetic resonance (MR) is used more and more frequently to diagnose changes in the musculoskeletal system in the course of rheumatic diseases, at their initial assessment, for treatment monitoring and for identification of complications. The article presents the history of magnetic resonance imaging, the basic principles underlying its operation as well as(More)
BACKGROUND Internal carotid artery dissection (ICAD) is a frequent cause of a stroke in young patients. Risk factors which can lead to dissection include neck injury and diseases of the inner wall of the artery. Common symptoms in ICAD are cervical pain and headache, Horner's syndrome, paralysis of the cranial nerves and subsequently cerebral and retinal(More)
INTRODUCTION Phrenic nerve lesion is a known complication of thoracic surgical intervention, but it is rarely described following thymectomy and lung surgery. OBJECTIVE To review the literature on thoracic intervention and phrenic nerve lesion and to describe four new cases, in which regular neurophysiological studies were performed. METHODS We reviewed(More)
BACKGROUND Despite the fact that joint tuberculosis is one of the most common forms of extrapulmonary tuberculosis, it is a disease entity that is very rare in Poland (less than 100 cases a year in the last 10 years). The symptoms are non-specific, and thus the disease is rarely taken into account in preliminary differential diagnosis. CASE REPORT A(More)
A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis. Tendon xanthomas were not observed in this case.(More)
BACKGROUND AND PURPOSE Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association(More)
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