Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic Moyamoya angiopathy

2012 ◽  
Vol 154 (3) ◽  
pp. 445-454 ◽  
Author(s):  
Markus Kraemer ◽  
Peter A. Horn ◽  
Constantin Roder ◽  
Nadia Khan ◽  
Rolf R. Diehl ◽  
...  
Author(s):  
Sara Pilgram-Pastor ◽  
René Chapot ◽  
Markus Kraemer

Abstract Background and purpose Little is known about the angiographic presentation of Moyamoya angiopathy (MMA) in non-Asian patients. Methods Conventional cerebral angiograms from 155 Caucasian patients diagnosed as MMA were analyzed with respect to extracranial champagne bottle neck sign, Suzuki stages, collateral status, as well as presence of aneurysms and posterior cerebral artery stenosis. Results In 84 of 155 angiograms, the extracranial carotid artery was visualized, in 65 of them (77.4%), a champagne bottle neck sign was noted. Of the 278 analyzable hemispheres, 13.7%,11.2%, 37.8%, 27.3%, 8.6%, and 1.4% were classified as Suzuki stage I, stage II, stage III, stage IV, stage V, and stage VI, respectively. Among 280 hemispheres, in 53 hemispheres (18.9%) isolated basal collaterals (pathway I) and in 104 hemispheres (37.1%) choroidal and pericallosal collaterals (including basal collaterals, pathway II) were found. In 74 hemispheres (26.4%) ethmoidal collaterals (pathways III), and in 17 hemispheres (6.1%) vault collaterals were visualized. Patients with higher Suzuki stages IV–VI (p = 0.008) and ethmoidal collaterals (p < 0.001) suffered more often from cerebral hemorrhage. Transient ischemic attacks occurred more frequently in patients with Suzuki stage I to III (p < 0.001). In 10 of 155 patients (6.5%), the angiogram revealed a cerebral aneurysm. In 13 patients (8.4%), a stenotic P1 segment of the posterior cerebral artery was found. Conclusions This is so far the largest observational study about angiography in Caucasian European MMA patients. A comparison with Asian data indicates similarity of disease in Caucasian and Asian patients.


1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.


2019 ◽  
Vol 24 (2) ◽  
pp. 159-165
Author(s):  
Jillian M. Berkman ◽  
Jonathan Dallas ◽  
Jaims Lim ◽  
Ritwik Bhatia ◽  
Amber Gaulden ◽  
...  

OBJECTIVELittle is understood about the role that health disparities play in the treatment and management of brain tumors in children. The purpose of this study was to determine if health disparities impact the timing of initial and follow-up care of patients, as well as overall survival.METHODSThe authors conducted a retrospective study of pediatric patients (< 18 years of age) previously diagnosed with, and initially treated for, a primary CNS tumor between 2005 and 2012 at Monroe Carell Jr. Children’s Hospital at Vanderbilt. Primary outcomes included time from symptom presentation to initial neurosurgery consultation and percentage of missed follow-up visits for ancillary or core services (defined as no-show visits). Core services were defined as healthcare interactions directly involved with CNS tumor management, whereas ancillary services were appointments that might be related to overall care of the patient but not directly focused on treatment of the tumor. Statistical analysis included Pearson’s chi-square test, nonparametric univariable tests, and multivariable linear regression. Statistical significance was set a priori at p < 0.05.RESULTSThe analysis included 198 patients. The median time from symptom onset to initial presentation was 30.0 days. A mean of 7.45% of all core visits were missed. When comparing African American and Caucasian patients, there was no significant difference in age at diagnosis, timing of initial symptoms, or tumor grade. African American patients missed significantly more core visits than Caucasian patients (p = 0.007); this became even more significant when controlling for other factors in the multivariable analysis (p < 0.001). African American patients were more likely to have public insurance, while Caucasian patients were more likely to have private insurance (p = 0.025). When evaluating survival, no health disparities were identified.CONCLUSIONSNo significant health disparities were identified when evaluating the timing of presentation and survival. A racial disparity was noted when evaluating missed follow-up visits. Future work should focus on identifying reasons for differences and whether social determinants of health affect other aspects of treatment.


2021 ◽  
Vol 13 ◽  
pp. 1759720X2110209
Author(s):  
Diana Prieto-Peña ◽  
Pilar Bernabeu ◽  
Paloma Vela ◽  
Javier Narváez ◽  
Jesús C. Fernández-López ◽  
...  

Objective: To assess the efficacy and safety of tocilizumab (TCZ) in Caucasian patients with refractory Takayasu’s arteritis (TAK) in clinical practice. Methods: A multicenter study of Caucasian patients with refractory TAK who received TCZ. The outcome variables were remission, glucocorticoid-sparing effect, improvement in imaging techniques, and adverse events. A comparative study between patients who received TCZ as monotherapy (TCZMONO) and combined with conventional disease modifying anti-rheumatic drugs (cDMARDs) (TCZCOMBO) was performed. Results: The study comprised 54 patients (46 women/8 men) with a median [interquartile range (IQR)] age of 42.0 (32.5–50.5) years. TCZ was started after a median (IQR) of 12.0 (3.0–31.5) months since TAK diagnosis. Remission was achieved in 12/54 (22.2%), 19/49 (38.8%), 23/44 (52.3%), and 27/36 (75%) patients at 1, 3, 6, and 12 months, respectively. The prednisone dose was reduced from 30.0 mg/day (12.5–50.0) to 5.0 (0.0–5.6) mg/day at 12 months. An improvement in imaging findings was reported in 28 (73.7%) patients after a median (IQR) of 9.0 (6.0–14.0) months. Twenty-three (42.6%) patients were on TCZMONO and 31 (57.4%) on TCZCOMBO: MTX ( n = 28), cyclosporine A ( n = 2), azathioprine ( n = 1). Patients on TCZCOMBO were younger [38.0 (27.0–46.0) versus 45.0 (38.0–57.0)] years; difference (diff) [95% confidence interval (CI) = -7.0 (-17.9, -0.56] with a trend to longer TAK duration [21.0 (6.0–38.0) versus 6.0 (1.0–23.0)] months; diff 95% CI = 15 (-8.9, 35.5), and higher c-reactive protein [2.4 (0.7–5.6) versus 1.3 (0.3–3.3)] mg/dl; diff 95% CI = 1.1 (-0.26, 2.99). Despite these differences, similar outcomes were observed in both groups (log rank p = 0.862). Relevant adverse events were reported in six (11.1%) patients, but only three developed severe events that required TCZ withdrawal. Conclusion: TCZ in monotherapy, or combined with cDMARDs, is effective and safe in patients with refractory TAK of Caucasian origin.


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