Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The acquired JAK2 V617F mutation is common in patients with myeloproliferative neoplasms. We previously showed that JAK2 V617F is also found in coronary patients, most of them affected by coronary atherosclerosis. Peripheral arterial disease (PAD) is another important manifestation of atherosclerosis. However, prevalence of the JAK2 V617F mutation and its effect on clinical or hematologic characteristics is unknown in PAD patients. In the present study we determined the prevalence of JAK2 V617F in a cohort of 287 patients with sonographically proven PAD and compared mutation frequency with mutational status of 997 healthy people from the KORA F4 study. JAK2 V617F screening and quantification of allele burden in both cohorts was performed with same allele-specific quantitative real-time PCR method. From a total of 287 PAD patients, 9 individuals were tested positive for the JAK2 V617F mutation. One patient showed elevated hemoglobin values, indicating polycythemia vera. Observed JAK2 V617F frequency (3.1%) in PAD patients showed a 5-fold, highly significant increase compared with healthy people (P < 0.001). Furthermore, occurrence of the mutation in PAD patients was significantly decreased in patients using aspirin (P = 0.003). We conclude that the prevalence of JAK2 V617F mutation is significantly increased in PAD patients compared to the general population. Future studies are warranted to confirm our observations and to define the underlying mechanisms behind our findings.
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PMID:Occurrence of the JAK2 V617F mutation in patients with peripheral arterial disease. 2534 90

Peripheral arterial disease (PAD) is a chronic condition; an increasing number of patients affected. Infrapopliteal disease is related to critical limb ischemia (CLI). Amputation-free survival in these situations is the goal to achieve; it is well-known that life expectancy and quality of live are reduced by this condition. PAD is rarely isolated in one anatomical region when a CLI condition exists. The endovascular approach to lower limb infrapopliteal disease (BTK) has been constantly increasing in the last years trying to prevent a potential amputation. Even with the current endovascular armamentarium, BTK disease remains challenging, long and even midterm results remain uncertain. The rationale behind using drug-eluting stent (DES) at BTK is similar to other regions; deal with elastic recoil, treat potential dissections, deliver drug to the intima to prevent restenosis and reduce late lumen loss. Current evidence comprehensive review of the latest published results has been performed as well a comparison with other available reviews and meta-analyses. There is an increasing evidence for the use of DES in BTK disease, multiple platforms with different drugs had been evaluated and some good initial results had been published and presented recently. The safety of DES used in BTK occlusive has been clearly proven over the different studies performed in the last years. Good primary patency has been reported for balloon expandable DES but available studies focused on short/focal lesions. Current results support the use of DES in BTK region when a stent is necessary (bail-out) or the total lesion length is short. There is a clear benefit for primary patency, potential clinical benefits and, under these conditions, DES treatment seems to be cost-effective. Further investigation and technology improvement is required to apply these good results to longer and more diffuse lesions.
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PMID:Drug-eluting stents remain the golden standard for below-the-knee occlusive disease. 2733 79