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Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in SERPINB7 is reported to underlie the condition. Though many case reports/series have demonstrated various mutations in SERPINB7, the genotype-phenotype correlation in this disorder is still lacking. We herein report two brothers with NPPK. Both patients were found to be compound heterozygous for c.796C>T and c.650_653delCTGT in the SERPINB7 gene. We then summarize the previously reported cases of different mutations in SERPINB7 along with their clinical phenotypes in an attempt to shed some light on this correlation. Further investigations and systematic data collection are still needed to clarify this issue.

Background: Treating great and small saphenous vein trunk insufficiency with cyanoacrylate glue is the least taxing treatment method of all available techniques. Due to long-term unavailability of commercial kits with n-butyl-2-cyanoacrylate (histoacryl) in the Czech Republic, we used a modified technique., Patients and Methods: Fifty-six limbs in 49 patients suffering from great saphenous vein or small saphenous vein insufficiency in combination with symptomatic chronic venous insufficiency and complicating comorbidities were treated with a modified endovascular cyanoacrylate glue application technique., Results: The immediate success rate of the treatment was 98 %. In follow-up intervals of six weeks, six months, one year, and two years, the anatomical success rates of embolization (recanalization of no more than 5 cm of the junction) were 98, 96, 94, and 94 %, respectively. At identical intervals the venous insufficiency was scored according to the Aberdeen Varicose Vein Questionnaire and the American Venous Clinical Severity Score. In both cases, improvement was demonstrated over the two-year follow-up, with a 0.5 % significance level. Specific clinical signs of venous insufficiency were also evaluated, such as pain, oedema, clearance of varicose veins, and healing of venous ulceration. One severe complication - a pulmonary embolism - was reported, without consequences., Conclusions: We demonstrated that treating insufficient saphenous veins with modified histoacryl application brought a relief from symptoms of venous insufficiency and that the efficiency of this technique is comparable to commonly used methods.

Aim: The injection of bone marrow mononuclear cells (BMMC) into the gastrocnemius muscle has given promising results in patients with critical limb ischemia (CLI). In this article, we have assessed whether a less invasive procedure, i.e. intravascular BMMC infusion, could be effective in this population of patients., Methods: A total of 28 limbs in 24 patients with CLI were treated. An amount of 276-700 mL of marrow blood was harvested from posterior iliac crests and BMMC were obtained by standard procedure used for bone marrow transplantation. After performance of digital subtraction angiography, BMMC were injected laterally through a 4 Fr sheet. Primary outcome was efficacy of the procedure measured as healing of defects, frequency of high amputations and change of ischemia grade; among secondary outcomes were safety of the procedure, angiographic changes and changes in quality of life., Results: One year after treatment, all patients were alive and only 2 patients have undergone high amputation. Eleven of 14 defects have healed (78%) and Fontaine grade of ischemia has changed from median grade 3.5 to median grade 2 (P<0.0001). Collateral vessel development has improved by mean 1.13 and 1.3 points on a four-point semiquantitative scale in calf and foot, respectively (P<0.0001). There were no grade III-IV adverse events. According to the SF-36 quality of life questionnaire, 1 year after the procedure patients have reported significant improvement in all measured items., Conclusion: Intra-arterial infusion of BMMC can lead to significant and long-lasting subjective and objective improvements in patients with CLI. The results merit validation by randomized controlled studies in patients with less critical limb ischemia.

Interventional procedures are becoming increasingly popular in the treatment of impaired patency of deep venous system caused most often by extensive phlebothrombosis. Restoration of patency to affected venous segments while preserving the valvular function with a high degree of success in a relatively short period of time can be achieved by combination of endovascular methods such as catheter guided thrombolysis followed by percutaneous transluminal angioplasty and stenting. This approach enables not only the resolution of acute vascular complications but also the prevention of postthrombotic syndrome. This case report of a 52-year-old man with retroperitoneal fibrosis causing chronic compression of vena cava inferior further complicated by travelling associated bilateral ileofemoral thrombosis clearly demonstrates the wide ranging applications of the endovascular techniques.

Retrograde intravenous perfusion (RIP), so-called Bier's blockade is a relatively new method of treatment of critical ischaemia of the extremities. It is based on the principle of retrograde, i.e. transvenous perfusion of the capillary circulation during which at the time of artificially discontinued circulation in the extremities a high concentration of effective substances in the target tissues is achieved. In addition to the mentioned critical ischaemia Bier's blockade can be successfully used in the treatment of so-called "diabetic foot". It is also possible to implement by this method a local medicamentously induced block of the sympathetic nerves by administration of Guanethidine. In patients with contraindications of systemic fibrinolytic treatment local thrombolysis can be made in phlebothromboses and acral vascular occlusions. In the treatment of tumours on the extremities, e.g. melanoblastome, it is possible to achieve by local administration of cytostatics comparable results, while the incidence of undesirable effects is smaller. The objective of the present work was to make the professional public familiar with this method. On the example of four patients with trophic defects of the lower extremities which developed as a result of primary thrombocythemia the application of Bier's method was demonstrated.