RET codon 609 mutations: a contribution for better clinical managing

Medullary thyroid carcinoma currently accounts for 5–8% of all thyroid cancers. The clinical course of this disease varies from extremely indolent tumors that can go unchanged for years to an extremely aggressive variant that is associated with a high mortality rate. As many as 75% of all medullary thyroid carcinomas are sporadic, with an average age at presentation reported as 60 years, and the remaining 25% are hereditary with an earlier age of presentation, ranging from 20 to 40 years

Impaired release of Vitamin D in dysfunctional adipose tissue: New cues on Vitamin D supplementation in obesity

Context: Vitamin D accumulates in adipose tissue (AT) and vitamin D deficiency is frequent in obesity. Objective: We hypothesize that trafficking of vitamin D is altered in dysfunctional AT. Design, Patients, Settings: 54 normal-weight and 67 obese males were recruited in a prospective study and randomly assigned to supplementation with 50 \ub5g/week 25-hydroxyvitamin-D3 (25(OH)D) or 150 \ub5g/week vitamin D3 for 1 year, raising dosage by 50% if vitamin D-sufficiency (serum 25(OH)D>50 nomol/l), was not achieved at 6 months; 97 subjects completed the study. Methods: Vitamin D3 (D3) and 25(OH)D were quantified by HPLC-MS in control and insulin-resistant (IR) 3T3-L1 cells and subcutaneous AT (SAT) from lean and obese subjects, incubated with or without adrenaline; expression of 25-hydroxylase (CYP27A1), 1\u3b1-hydroxylase (CYP27B1) and vitamin D receptor (VDR) were analysed by real-time PCR. Results: In IR adipocytes the uptake of D3 and 25(OH)D was higher, but after adrenaline stimulation, the decrement in D3 and 25(OH)D was stronger in control cells, which also showed increased expression of CYP27A1 and CYP27B1 and higher levels of 25(OH)D. In SAT from obese subjects, the adrenaline-induced release of D3 and 25(OH)D was blunted; in both IR cells and obese SAT, protein expression of \u3b22-adrenergic receptor was reduced. Supplementation with 25-hydroxyvitamin-D3 was more effective in achieving vitamin D sufficiency in obese, but not in normal weight subjects. Conclusion: Dysfunctional AT shows a reduced catecholamine-induced release of D3 and 25(OH)D, and altered activity of vitamin D-metabolizing enzymes, for these reasons supplementation with 25-hydroxyvitamin-D3 is more effective in obese individuals

Outcomes of Radiofrequency Ablation for Dysplastic Barrett’s Esophagus: A Comprehensive Review

Barrett's esophagus is a condition in which the normal squamous lining of the esophagus has been replaced by columnar epithelium containing intestinal metaplasia induced by recurrent mucosal injury related to gastroesophageal reflux disease. Barrett's esophagus is a premalignant condition that can progress through a dysplasia-carcinoma sequence to esophageal adenocarcinoma. Multiple endoscopic ablative techniques have been developed with the goal of eradicating Barrett's esophagus and preventing neoplastic progression to esophageal adenocarcinoma. For patients with high-grade dysplasia or intramucosal neoplasia, radiofrequency ablation with or without endoscopic resection for visible lesions is currently the most effective and safe treatment available. Recent data demonstrate that, in patients with Barrett's esophagus and low-grade dysplasia confirmed by a second pathologist, ablative therapy results in a statistically significant reduction in progression to high-grade dysplasia and esophageal adenocarcinoma. Treatment of dysplastic Barrett's esophagus with radiofrequency ablation results in complete eradication of both dysplasia and of intestinal metaplasia in a high proportion of patients with a low incidence of adverse events. A high proportion of treated patients maintain the neosquamous epithelium after successful treatment without recurrence of intestinal metaplasia. Following successful endoscopic treatment, endoscopic surveillance should be continued to detect any recurrent intestinal metaplasia and/or dysplasia. This paper reviews all relevant publications on the endoscopic management of Barrett's esophagus using radiofrequency ablation

Difficulties in the Mutation Analysis of Plasminogen Gene: A Study in Two Patients with Ligneous Conjunctivitis

The absence or very low levels of plasminogen cause a rare disabling disease called ligneous conjunctivitis, characterized by the growth of fibrin-rich pseudomembranes in the conjunctiva and on other mucosal surfaces. Several mutations have been detected in the plasminogen gene of patients affected with ligneous conjunctivitis. The human plasminogen gene, located on chromosome 6, has a marked homology with the genes belonging to the plasminogenapo(a) family, and with a number of pseudogenes and plasminogen-like genes located on chromosome 2. This work describes a series of nucleotide variations related to genes other than the plasminogen one, found during the genetic characterization of plasminogen defect in two unrelated patients with ligneous conjunctivitis. The results of automated sequences of each exon and intron-exon boundaries were compared with those of the human plasminogen gene from the NCBI gene bank. In particular, a co-amplified gene on chromosome 2 mimicking a 14 bp deletion in exon 5 of the plasminogen gene was identified by sequencing two different bands obtained from a long run of the PCR exon 5 product in NuSieve agarose gel, and by PstI restriction enzyme analysis of the same amplicons. Moreover, 21 single nucleotide exchanges due to plasminogen-like genes co-amplification were observed, namely one in exon 1, two in exon 4, three in exons 3, 5 and 16, four in exon 13, and five in exon 17. In conclusion, these data confirm the difficulty of plasminogen genetic analysis and may help researchers to better identify the true plasminogen gene mutations causing molecular defects

Розвиток духовності особистості в процесі фахової підготовки майбутніх учителів образотворчого мистецтва

(uk) У статті наголошується, що вчитель образотворчого мистецтва виступає носієм не лише спеціальних знань та умінь, але і носієм духовних цінностей. Духовне збагачення і вдосконалення кожної особистості відбувається протягом всього життя в тому числі і в процесі навчання. Гуманізація освіти та естетичне виховання спрямовано на формування гармонійної цілісної особистості, загальнокультурний її розвиток. Засобами естетичного виховання в мистецтві виступає художній образ. Художній образ є відображенням дійсності яке містить в собі не лише суб’єктивний досвід автора, його розуміння та відношення до об’єктів дійсності, але і відбитки культурно-історичного досвіду, естетичних цінностей, але і відбитки культурно-історичного досвіду, естетичних цінностей соціуму загалом. На їх базі і формується всебічно та гармонійно розвинута особистість із вищими моральними цінностями, естетичними канонами та ідеалами.(ru) В статье делается акцент на то, что учитель изобразительного искусства выступает носителем не только специальных знаний и умений, но и носителем духовных ценностей. Духовное обогащение и совершенствование каждой личности происходит на протяжении всей жизни в том числе и в процессе обучения. Гуманизация образования и эстетическое воспитание направлены на формирование гармоничной целостной личности и ее общекультурное развитие. Средством эстетического воспитания в искусстве выступает художественный образ. Художественный образ является отражением действительности, которое содержит в себе не только субъективный опыт автора, его понимание и отношение к объектам действительности, но и отпечатки культурно-исторического опыта, эстетических ценностей социума в целом. На их базе и формируется всесторонне и гармонично развитая личность с высокими моральными ценностями, эстетическими канонами и идеалами.(en) Importance of education in society is determined by the need to raise the national consciousness of the saved and nurturing genuine citizen. Spiritual enrichment and improvement of each individual occurs throughout life including during training. Spirituality determines the direction of all mental, emotional, sensual, strong-willed human qualities and its ability to self yourself as a person. Master of Fine Arts acting carrier not only specialized knowledge and skills, but also a bearer of spiritual values. Humanizing education and aesthetic education aims at forming a harmonious whole person, her general cultural development. Art is an integral part of spiritual culture, a reflection of the artistic representations of the human form of the world of reality. The means of aesthetic education in the art of acting artistic image. Artistic image is a reflection of reality, which contains not only the subjective experience of the author, and understanding related to the objects of reality, but the prints are of cultural and historical experience, the aesthetic values of society as a whole. At their base is formed fully and harmoniously developed personality with higher moral values, aesthetic canons and ideals

Pheochromocytomas and paragangliomas in children: Data from the Italian Cooperative Study (TREP)

Pheochromocytomas (PCs) are neuroendocrine tumors arising from the chromaffin cells of the adrenal gland, and paragangliomas (PGLs) are their extra-adrenal counterparts arising from ganglia along the sympathetic/parasympathetic chain. Surgery is the cornerstone of treatment. A sporatic or inherited germline mutation is commonly associated

Quantitative value of aldosterone-renin ratio for detection of aldosterone-producing adenoma: The Aldosterone-Renin Ratio for Primary Aldosteronism (AQUARR) study

Background Current guidelines recommend use of the aldosterone\u2010renin ratio (ARR) for the case detection of primary aldosteronism followed by confirmatory tests to exclude false\u2010positive results from further diagnostic workup. We investigated the hypothesis that this could be unnecessary in patients with a high ARR value if the quantitative information carried by the ARR is taken into due consideration. Methods and Results We interrogated 2 large data sets of prospectively collected patients studied with the same predefined protocol, which included the captopril challenge test. We used an unambiguous diagnosis of aldosterone\u2010producing adenoma as reference index. We also assessed whether the post\u2010captopril ARR and plasma aldosterone concentration fall furnished a diagnostic gain over baseline ARR values. We found that the false\u2010positive rate fell exponentially, and, conversely, the specificity increased with rising ARR values. At receiver operating characteristics curves and diagnostic odds ratio analysis, the high baseline ARR values implied very high positive likelihood ratio and diagnostic odds ratio values. The baseline and post\u2010captopril ARR showed similar diagnostic accuracy (area under the receiver operating characteristics curve) in both the exploratory and validation cohorts, indicating lack of diagnostic gain with this confirmatory test (between\u2010area under the curve difference, 0.005; 95% CI, 120.031 to 0.040; P=0.7 for comparison, and 0.05; 95% CI, 120.061 to 0.064; P=0.051 for comparison, respectively). Conclusions These results indicate that the ARR conveys key quantitative information that, if properly used, can simplify the diagnostic workup, resulting in saving of money and resources. This can offer the chance of diagnosis and ensuing adrenalectomy to a larger number of hypertensive patients, ultimately resulting in better control of blood pressure

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Correction: An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility

El artículo original ha sido publicado: Landa I, Boullosa C, Inglada-Pe´rez L, Sastre-Perona A, Pastor S, et al. (2013) An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility. PLoS ONE 8(9): e74765. doi:10.1371/journal.pone.0074765