Glycerol accelerates recovery of barrier function in vivo.

Two studies were performed to evaluate the influence of glycerolon the recovery of damaged stratum corneum barrier function.Measurements of transepidermal water loss and capacitancewere conducted in a 3-day follow-up after tape stripping (study1) and a 7-day follow-up after a barrier damage due to arepeated washing with sodium lauryl sulphate. In study 1 afaster barrier repair (transepidermal water loss) was monitoredin glycerol-treated sites. Significant differences between glycerolopen vs. untreated and glycerol occluded vs. untreated wereobserved at day 3. Stratum corneum hydration showedsignificantly higher values in the sites treated with glycer-olzocclusion, compared with all other sites. In study 2 a fasterbarrier repair was seen in glycerol-treated sites, with significantdifferences against untreated and base-treated sites 7 days afterthe end of the treatment. Stratum corneum hydration showedhighest values in the glycerol treated sites after 3 days oftreatment. Glycerol creates a stimulus for barrier repair andimproves the stratum corneum hydration; stratum corneumhydration is not strictly related to barrier homeostasis and canbe optimized by different mechanisms and pathways. Theobserved effects were based on the modulation of barrier repairand were not biased by the humectant effect of glycerol. As theglycerol-induced recovery of barrier function and stratumcorneum hydration were observed even 7 days after the endof treatment, glycerol can be regarded as a barrier stabilizingand moisturizing compound. Key words: tape stripping; SLSwashing; transepidermal water loss (TEWL); capacitance;occlusion; barrier repair.(Accepted May 19, 1999.)Acta Derm Venereol 1999; 79: 418–421.Joachim Fluhr, Department of Dermatology, KarlsruheHospital, Sta¨dt. Klinikum, Moltkestrasse 120, D-76133Karlsruhe, Germany.The mechanisms promoting barrier repair in vivo afterstripping of the stratum corneum (SC) and repeated irritationwith sodium lauryl sulphate (SLS) are not completely clear:the modulation of water flux is probably a key factor involvedin barrier repair (1–7). It is known, that glycerol represents ahygroscopic compound capable of absorbing water from theenvironment and deeper parts of the SC.The purpose of the present study was to evaluate in vivothe effects of glycerol and occlusion in the promotion ofbarrier repair. Two studies were performed to evaluate theeffect of a repeated application of glycerol on damaged SCbarrier. The barrier disruption was performed by tapestripping (study 1) and by repeated washing with SLS over4 days (study 2).MATERIALS AND METHOD

The ability of lumbar Spine DXA and phalanx QUS to detect previous fractures in young thalassemic patients with hypogonadism, hypothyroidism, diabetes, and hepatitis-B: A 2-year subgroup analysis from the taranto area of Apulia Region

Background: Osteoporosis is a leading cause of morbidity in patients affected by β-thalassemia major or intermediate; we aimed to assess the association between demineralization observed in young thalassemic patients. Methods: A total of 88 patients with β-thalassemia were recruited at Microcitemia Center of Taranto Hospital under the Prevention Osteoporosis and Fractures research project from 2008 to 2010. All the patients were screened with both dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS). T score and Z score values were obtained for each subject. Results: The overall prevalence of demineralization was 84% with DXA and 70% with QUS, whereas normality was found in 16% of patients screened with DXA and in 30% of cases with QUS. Hypogonadism, hypothyroidism, diabetes mellitus, hepatitis-B, and the presence of previous fragility fractures were significantly associated with the demineralization status (lower T scores values) both with DXA and QUS. CONCLUSION: Our data confirm that DXA and QUS examinations are both useful for detecting bone demineralization in thalassemic patients. © 2013 Lippincott Williams & Wilkins

Preliminary experience with the smooth muscle troponin-like protein, calponin, as a novel biomarker for diagnosing acute aortic dissection

Aims The early diagnosis of acute aortic dissection (AD) remains challenging. We sought to determine the utility of the troponin-like protein of smooth muscle, calponin, as a diagnostic biomarker of acute AD. Methods and results Immunoassays against calponin (acidic, basic, and neutral isoforms) were developed and the levels were compared in a convenience sample of 59 patients with radiographically proven AD [34 males, age 59+15 (SD) years] vs. 158 patients suspected of having AD at presentation (116 males, age 63+15 years) but whose final diagnosis was not AD. Basic calponin, which is the most specific and abundant in smooth muscle, and acidic calponin, respectively, showed greater than two-fold and three-fold elevations in patients with acute AD. Diagnostic performance as determined by receiver-operating characteristics curve analysis showed that both acidic and basic calponin have the potential to detect AD in the first 24 h [respective areas under the curve (AUCs) 0.63 and 0.58], with superior performance of basic calponin (when compared with acidic) in the initial 6 h (respective AUCs 0.63 and 0.67). Conclusion Circulating calponin levels were elevated in acute AD compared with controls. These biomarkers have the potential for use as an early diagnostic biomarker for acute AD. Keywords Aortic dissection ? Biomarke

Automated Prediction of CMEs Using Machine Learning of CME – Flare Associations

YesIn this work, machine learning algorithms are applied to explore the relation between significant flares and their associated CMEs. The NGDC flares catalogue and the SOHO/LASCO CMEs catalogue are processed to associate X and M-class flares with CMEs based on timing information. Automated systems are created to process and associate years of flares and CMEs data, which are later arranged in numerical training vectors and fed to machine learning algorithms to extract the embedded knowledge and provide learning rules that can be used for the automated prediction of CMEs. Different properties are extracted from all the associated (A) and not-associated (NA) flares representing the intensity, flare duration, duration of decline and duration of growth. Cascade Correlation Neural Networks (CCNN) are used in our work. The flare properties are converted to numerical formats that are suitable for CCNN. The CCNN will predict if a certain flare is likely to initiate a CME after input of its properties. Intensive experiments using the Jack-knife techniques are carried out and it is concluded that our system provides an accurate prediction rate of 65.3%. The prediction performance is analysed and recommendation for enhancing the performance are provided

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay

<p>Abstract</p> <p>Background</p> <p>Hereditary hemochromatosis (HH) is a common genetic disease characterized by excessive iron overload that leads to multi-organ failure. Although the most prevalent genotype in HH is homozygosity for C282Y mutation of the <it>HFE </it>gene, two additional mutations, H63D and S65C, appear to be associated with a milder form of HH. The aim of this study was to develop a high-throughput assay for <it>HFE </it>mutations screening based on TaqMan technology and to determine the frequencies of <it>HFE </it>mutations in the Slovenian population.</p> <p>Methods</p> <p>Altogether, 1282 randomly selected blood donors from different Slovenian regions and 21 HH patients were analyzed for the presence of <it>HFE </it>mutations by an in-house developed real-time PCR assay based on TaqMan technology using shorter non-interfering fluorescent single nucleotide polymorphism (SNP)-specific MGB probes. The assay was validated by RFLP analysis and DNA sequencing.</p> <p>Results</p> <p>The genotyping assay of the H63D, S65C and C282Y mutations in the <it>HFE </it>gene, based on TaqMan technology proved to be fast, reliable, with a high-throughput capability and 100% concordant with genotypes obtained by RFLP and DNA sequencing. The observed frequency of C282Y homozygotes in the group of HH patients was only 48%, others were of the heterogeneous <it>HFE </it>genotype. Among 1282 blood donors tested, the observed H63D, S65C and C282Y allele frequency were 12.8% (95% confidence interval (CI) 11.5 – 14.2%), 1.8% (95% CI 1.4 – 2.5%) and 3.6% (95% CI 3.0 – 4.5%), respectively. Approximately 33% of the tested subjects had at least one of the three HH mutations, and 1% of them were C282Y homozygotes or compound heterozygotes C282Y/H63D or C282Y/S65C, presenting an increased risk for iron overload disease. A significant variation in H63D allele frequency was observed for one of the Slovenian regions.</p> <p>Conclusion</p> <p>The improved real-time PCR assay for H63D, S65C and C282Y mutations detection is accurate, fast, cost-efficient and ready for routine screening and diagnostic procedures. The genotype frequencies in the Slovenian population agree with those reported for the Central European populations although some deviations where observed in comparison with other populations of Slavic origin. Regional distribution of the mutations should be considered when planning population screening.</p

Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain

Mutations in the HFE gene result in iron overload and can produce hereditary hemochromatosis (HH), a disorder of iron metabolism characterized by increased intestinal iron absorption. Dietary quality, alcoholism and other life-style factors can increase the risk of iron overload, especially among genetically at risk populations. Polymorphisms of the HFE gene (C282Y, H63D and S65C) were measured together with serum ferritin (SF), transferrin saturation (TS) and hemoglobin, to measure iron status, in randomly-selected healthy subjects living in the Spanish Mediterranean coast (n = 815; 425 females, 390 males), 18 to 75 years of age. The intake of dietary components that affect iron absorption was calculated from 3-day dietary records. The presence of C282Y/H63D compound heterozygote that had a prevalence of 2.8% in males and 1.2% in females was associated with an elevated TS and SF. No subject was homozygous for C282Y or S65C. The C282Y heterozygote, H63D heterozygote and homozygote and H63D/S65C compound heterozygote genotypes were associated with increased TS relative to the wild type in the general population. These genotypes together with the alcohol and iron intake increase the indicators of iron status, while calcium intake decreases them. We did not observe any affect of the S65C heterozygote genotype on these levels. All the HFE genotypes except for the S65C heterozygote together with the alcohol, iron and calcium intake affect the indicators of iron status. The C282Y/H63D compound heterozygote genotype has the higher phenotypic expression in our Spanish Mediterranean population