ABSTRACT
BACKGROUND: Spinal dural arteriovenous fistula is the most common spinal vascular malformation. It usually presents with neurological deficits due to venous congestive myelopathy. Sometimes, however, the symptoms are radicular and can imitate those of a disc hernia or synovial cyst. OBSERVATIONS: In this illustrated case, a 34-year-old male patient presented with radicular pain due to nerve root compression. In the magnetic resonance imaging (MRI) examination of the spine, a synovial cyst was suspected, so the patient underwent no further examination before surgery. Intraoperatively, the authors were surprised to see a vascular malformation, which was shown to be an extradural arteriovenous fistula according to the histopathological examination. LESSONS: In atypical MRI findings of the spine, vascular malformations should be considered. In cases with a spinal dural arteriovenous fistula, the thrombosis risk can be high and lead to a need for prolonged anticoagulation.
ABSTRACT
BACKGROUND: To examine the prevalence of an exon 12 polymorphism on the human Thromboxane synthase (CYP5A1) gene. MATERIAL/METHODS: Using sequence-specific PCR, we examined the allelic prevalence in 237 Greek patients with ischemic strokes and in 171 controls. In addition, we compared the CYP5A1 allelic prevalence in 71 patients with stroke recurrence despite Aspirin use, in comparison with patients who have not experienced recurrent stroke while taking Aspirin. RESULTS: The frequencies of the CYP5A1*9 mutant (substitution of guanine by adenine near the heme-binding catalytic domain) and of the wild-type allele were 0.197 and 0.803, respectively; they did not differ significantly between stroke patients and controls. The wild-type allele was more frequent in the Cretan population compared to continental Greece (OR 1.80, 95% CI 1.19-2.74). The wild-type allele was more frequent among hypertensive and less frequent among diabetic stroke sufferers, respectively. The CYP5A1*9 mutant was significantly more prevalent among stroke patients with history of previous cerebrovascular attacks (p<0.01); and among those who failed secondary Aspirin prophylaxis even after adjusting for the common risk factors for cardiovascular disease (OR 1.49, 95% CI 1.06-2.11). CONCLUSIONS: Allelic prevalence of the CYP5A1 exon 12 might differ between geographic areas within the same ethnic group, and is associated with particular characteristics of stroke patients. Allele mutations can abolish the enzymatic activity of thromboxane synthase, via impaired heme binding, associated with defective response to Aspirin used as secondary prevention, an effect independent from the conventional risk factors for cerebrovascular disease.
Subject(s)
Exons/genetics , Polymorphism, Single Nucleotide , Stroke/enzymology , Thromboxane-A Synthase/genetics , DNA Primers/genetics , Female , Gene Frequency , Genotype , Greece , Heme/metabolism , Humans , Male , Mutation, Missense/genetics , Spectrophotometry, Ultraviolet , Thromboxane-A Synthase/metabolismABSTRACT
BACKGROUND: Warthin's tumor is a common benign neoplasm of the salivary gland. Human Herpes Virus 8 (HHV-8) is the etiologic agent for all forms of Kaposi's sarcoma (KS), and HHV-8 DNA is present in saliva, suggesting that non-sexual transmission is associated with latent infection of the salivary gland. OBJECTIVES: To provide insights into the HHV-8 cell tropism, the presence of HHV-8 was investigated in a series of Warthin's tumors of the salivary gland and corresponding adjacent normal tissue. STUDY DESIGN: Forty-three patients with Warthin's tumors (cystadenolymphoma) were tested for the presence of HHV-8 DNA, and corresponding adjacent normal tissue samples were obtained from 15 patients. DNA was extracted from the paraffin-embedded tissues. A nested polymerase chain reaction (PCR) assay was applied, and the positive samples were confirmed by direct sequencing. RESULTS: HHV-8 DNA was detected in 19 out of 43 (44%) salivary gland tumor samples. Among the 15 cases with paired samples, 9 were HHV-8-positive for both samples, 4 were HHV-8-negative for both samples while in two cases HHV-8 was detected only in the tumor specimens. CONCLUSIONS: HHV-8 is frequently detected in adenoid salivary neoplasms, suggesting a significant role of the virus in the etiopathogenesis of the disease. Larger studies are required to investigate the role of HHV-8 in the development or progression of Warthin's tumors.
