Venous thoracic outlet syndrome: Single center five years experience

BACKGROUND: Patients with thoracic outlet syndrome. can present neurogenic, venous, and/o arterialsymptoms due to compression of the neurovascular structures by the scalene muscle, first rib, or fibrous bands. METHODS: Twenty-six patients underwent decompressive surgery of the thoracic outlet via the supraclavicular approach. The indication for operation was compression of the subclavian artery in 7 instances (5 females and 2 males, aged 44±9), axillo-subclavian venous thrombosis in 6 instances (5 females and 1 male, aged 22±4), and brachial plexus irritation in 13 instances (9 females and 4 males, aged 35±6). Operation consisted of resection of the anterior scalene and medial aspect of the middle scalene muscles and brachial plexus neurolysis for neurogenic indication, with first rib resection reserved for vascular complications. RESULTS: Clinical evaluation including a history and physical examination followed by catheter-based venography to confirm or exclude the diagnosis and allowing for immediate treatment using thrombolysis. After thrombolysis, to prevent early recurrent thrombosis, patients should be maintained with systemic anticoagulation and surgery should be performed earlier in patients with severe residual SCV stenosis. CONCLUSIONS: Early diagnosis and thrombolytic therapy followed by operative first-rib resection produces the most favorable long-term outcome for the patients

Predictors of improved quality of life and claudication in patients undergoing spinal cord stimulation for critical lower limb ischemia

Background: The aim of this study was to determine predictors of improved quality of life and claudication in patients undergoing spinal cord stimulation (SCS) for critical lower limb ischemia. Methods: We retrospectively analyzed 101 consecutive patients with few meter claudication and nonhealing ulcer who underwent definitive SCS. These patients were selected among 274 SCS patients treated at our center from 1995 to 2012. All presented with non-reconstructable critical leg ischemia (NR-CLI) and underwent supervised exercise therapy, best medical care and regular ulcers standard or advanced medications for at least 1 month before SCS implantation. We measured self-perceived quality of life using the SF-36 questionnaire. Patients with an improved walking distance of at least 30 meters after SCS had significant improvement on SF-36 questionnaire scores. We considered 30 meters as the cut-off for clinically significant improvement in pain-free walking distance, and we defined this value as functional success. Logistic regression was applied to assess baseline and other patient variables as possible predictors of functional success. Results: Neither perioperative mortality nor significant complications were found. At a median follow-up of 69 months (range 1-202 months), mortality, major amputation, and minor amputation were 8.9%, 5.9%, and 6.9%, respectively. Functional clinical success was reported in 25.7% of cases. Independent predictors of functional success at univariate analysis included delay between the onset of the ulcer and SCS (P < 0.001) and the pain-free walking distance before SCS (P < 0.002). The only predictive factor of functional success at multivariate analysis was the delay between the onset of ulcer and SCS (median delay in patients with and without functional success was 3 and 15 months, respectively). In particular, comparable to pain-free walking distance before SCS, the success rate decreased by 40% for each month elapsed from onset of ulcer to SCS. Conclusions: In our series of patients who underwent SCS, reduced delay between the onset of ulcer and SCS was associated with improved quality of life and walking distance. Larger series are required to confirm these data and to assess clinical implications. \ua9 2014 Elsevier Inc. All rights reserved

Polymorphism of immunoglobulin enhancer element HS1,2A: allele *2 associates with systemic sclerosis. Comparison with HLA-DR and DQ allele frequency

OBJECTIVE: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3' enhancer complex regulatory region (IgH3'EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. METHODS: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. RESULTS: The analysis of genotypes for the four alleles of the HS1,2A enhancer showed an increased frequency of allele *2 in the SSc cohort highly significant versus controls (57% vs. 40%, p<0.0001). Considering the autoantibody pattern, we found that the frequency of the 2/2 genotype was increased in ACA+ patients (42%) and anti-Scl70+ patients (31%) compared with the control group (15%). The differences of allelic frequencies among dSSc versus lSSc or ACA+ versus anti-Scl70+ patients were not significant, although highly significant when comparing each subgroup with the control group. HLA-DRB1*11 and DQB1*03 associated with SSc. No association was seen between HS1,2A enhancer polymorphism and HLA alleles. CONCLUSIONS: These data confirm there was an increased risk of having SSc in carriers of allele *2, suggesting an intriguing function of this polymorphism for B-cell regulation

BALKAN ENDEMIC NEPHROPATHY RISK ASSOCIATES TO THE HS1.2 IG ENHANCER POLYMORPHISM

Balkan Endemic Nephropathy (BEN) is a kidney degenerative disease with a high incidence in the valleys of the Danube and tributary rivers. Many evidences describe it as a multifactorial disease. Environmental as well immuno-inflammatory and genetic cofactors have been suggested to trigger the onset of the disease. Recently, high levels of C-reactive protein were demonstrated in BEN patients. We performed this study to evaluate the possible correlation of BEN with the polymorphism of the Ig heavy chain 3\u2019Regulatory Region enhancer hs1.2 that is related to changes of consensus for trans activators binding within the DNA sequence and probably consequently autoimmune and inflammatory diseases. Therefore, we studied three cohorts: 1) 111 control subjects, 2) 95 BEN patients in dialysis therapy and 3) 133 components of a large family \u201cJ\u201d the same geographical area. The allelic frequencies of hs1.2 of BEN patients and family \u201cJ\u201d components had the similar decrease frequency of allele *1 and increase of allele *2 respect to the controls. This trend suggests the association of allele *1 as a protective and allele *2 as a risk component for the disease. The presence of a consensus sequence for NF-kb in the allele *2 may link the polymorphism to the inflammatory activity of BEN. This study supports the presence of an inflammatory pathway in BEN through the involvement of polymorphic enhancer hs1.2 influencing differently binding complexes and consequently the 3D structure of 3\u2019 Regulatory Region of IgH. Our work is the first study that clearly links BEN to a gene involved in the regulation of immune response

Longitudinal assessment of perceptual-motor abilities in pre-school preterm children

To verify the value of early perceptual-motor assessment in preterms