Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population.
Journal - BMB reports (Korea (South) )
Thromboxane A2 (TBXA2) is a potent vasoconstrictor in cerebral circulation and is a known contributor to the pathogenesis of cerebral infarction. Thromboxane A2 synthase 1 (TBXAS1) and thromboxane A2 receptors (TBXA2R) are key components in TBXA2 function. We examined whether genetic variants in TBXA2R and TBXAS1 are risk factors for cerebral infarction by genotyping 453 Korean patients with noncardiogenic cerebral infarction and 260 controls. A few, specific polymorphisms in the TBXA2R (-3372G>C, +4710T>C and 4839T>C) and TBXAS1 (+16184G>T, +141931A>T and +177729G>A) genes were chosen and investigated. Logistic regression showed the frequencies of TBXAS1+16184G>T and TBXAS1- ht3 were significantly more frequent in cerebral infarction (P=0.002, OR=2.75 and P=0.01, OR=1.57, respectively), specifically in small-artery occlusion (SAO) type of cerebral infarction (P=0.0003 and 0.005, respectively). These results suggest specific TBXAS1 gene polymorphisms may be a useful marker for development of cerebral infarction, especially SAO type in Korean population.
|ISSN : ||1976-6696|
|Mesh Heading : ||Aged Asian Continental Ancestry Group Cerebral Infarction Female Genotype Humans Korea Male Middle Aged Polymorphism, Genetic Receptors, Thromboxane A2, Prostaglandin H2 Thromboxane-A Synthase genetics pathology|
|Mesh Heading Relevant : ||genetics genetics genetics genetics|
Prominent cerebellar symptoms with unusual magnetic resonance imaging findings in acquired hepatocerebral degeneration.
Journal - Archives of neurology (United States )
BACKGROUND: Cerebellar lesions revealed by abnormal signals on magnetic resonance images are extremely rare in acquired hepatocerebral degeneration (AHCD). OBJECTIVE: To report a case of AHCD with prominent cerebellar findings both clinically and radiologically. DESIGN AND SETTING: Case report and tertiary-care hospital. PATIENT: A 46-year-old man complained of progressive speech difficulties of 5 months' duration. Two years earlier, he had been diagnosed as having cirrhosis of the liver caused by alcoholism and hepatitis B virus infection. RESULTS: The patient had progressive ataxic dysarthria and limb and gait ataxia as manifestations of AHCD. Magnetic resonance imaging of the brain revealed distinctive symmetrical T2 high-signal intensities in the bilateral cerebellar hemispheres and brachium pontis, which were consistent with his neurologic deficits. Simultaneously, high T1 signals in the bilateral pallidum and ventral midbrain were noted, which are typical manifestations of AHCD. Follow-up magnetic resonance imaging 3 months later showed the same cerebellar signs and abnormal signals. CONCLUSIONS: The cerebellar cortex and middle cerebellar peduncle are considered highly vulnerable structures to metabolic insults in liver disease. Findings from our patient suggest that dominant cerebellar deficits with compatible T2 high-signal lesions are another type of clinical manifestation in AHCD.
|ISSN : ||0003-9942|
|Mesh Heading : ||Alcoholism Cerebellum Hepatitis B Hepatolenticular Degeneration Humans Liver Cirrhosis Magnetic Resonance Imaging Male Middle Aged complications pathology complications etiology pathology complications|
|Mesh Heading Relevant : ||radiography radiography|
Extensive brain stem lesions in thrombotic thrombocytopenic purpura: repeat magnetic resonance findings.
Journal - Journal of neuroimaging : official journal of the American Society of Neuroimaging (United States )
The authors report on an unusual case of extensive brain stem lesions as a manifestation of thrombotic thrombocytopenic purpura (TTP). A 28-year-old woman developed rapidly progressive neurologic deficits 5 days after a cesarean delivery. Her condition had been normal after delivery. Initial magnetic resonance imaging (MRI) revealed extensive T2 hyperintense lesions involving the entire brain stem; only part of the pons showed hyperintense abnormalities in a concomitantly taken diffusion-weighted image. The hematologic evaluations and her clinical course revealed the diagnosis of TTP, so plasma exchange and methyl-prednisolone therapy were initiated. After 10 days of treatment, she developed neurologic improvement. A follow-up MRI on the 75th day revealed dramatically reduced brain stem lesions with only residual punctate lesions in the pons. Her remaining neurologic deficits were dysarthria, limb ataxia, and left hemiparesis. As demonstrated in this study, extensive brain stem involvement should be added as a possible neuroimaging feature of TTP.
|ISSN : ||1051-2284|
|Mesh Heading : ||Adult Brain Stem Female Humans Puerperal Disorders Purpura, Thrombotic Thrombocytopenic pathology|
|Mesh Heading Relevant : ||Magnetic Resonance Imaging pathology pathology|