Generation of heterozygous SAMD9 CRISPR/Cas9-edited iPSC line (ESi086-A-3), carrying I1567M mutation

Germline SAMD9 mutations are one of the most common alterations that predispose to pediatric myelodysplastic syndrome (MDS), a clonal disorder characterized by ineffective hematopoiesis, increasing the risk of developing acute myeloid leukemia (AML). Up to date, a disease model to study the role of SAMD9 mutation in MDS is still lacking. Here, we have generated a human induced pluripotent stem cell (hiPSC) line carrying SAMD9mut (p.I1567M), taking advantage of CRISPR/Cas9 system. As a result, the genetic engineered hiPSC line represent a new in vitro disease model to understand the impact of SAMD9 mutation at molecular and cellular level during hematopoiesis

Fungal bioconversion of brewery by-products: assessment of fatty acids and sterols profiles

Waste management of brewery by-products is economically and environmentally problematic. In the frame of bio-recycling, this study aims to investigate the bioconversion of brewery by-products by filamentous fungi. Pleurotus ostreatus and Lentinula edodes were grown on different substrates based on brewer’s spent grains (fresh and dry). Afterwards, fatty acids and sterols were determined. Following the selection of the suitable substrate composition for fungal growth, results showed that fatty acids composition of fungal biomasses varied significantly as a function of substrate and fungal strain. Interestingly, fungal fat might be used for human nutrition due to low SFA/UFA ratios (~0.2–0.4) within the same range of vegetal oils. Sterols profile of fungi biomass revealed the predominance of ergosterol. Also, it was found that the fungi growing on by-products slightly reduced the cholesterol contents. As such, this approach focusing on the bioconversion of by-products using fungi can provide biomasses with a fat composition suitable for feed and human consumption.info:eu-repo/semantics/publishedVersio

Santa Maria de Jonqueres

Aquest vell priorat enclavat dalt d'un estratègic turó, pertany al terme municipal de Maià de Montcal, a tocar, respectivament, Cabanelles i Crespià, en el punt just d'intersecció de la Garrotxa, l'Empordà i la comarca del Pla de l'Estany. El seu emplaçament, prop del riu Fluvià -i algunes relíquies arqueològiques que s'hi han trobat- ha donat peu a suposicions -ara com ara no confirmades- sobre la possible existència en el lloc d'una estació íbero-romana. Confirma la hipòtesi l'antiguitat de l'església i el fet de trobar-se dins la ruta del romànic que ressegueix l'antic camí ramader de Maià, Beuda, Besalú i Sant Ferriol

HDR and LDR brachytherapy in the treatment of lip cancer: the experience of the Catalan Institute of Oncology

Purpose: lip cancer can be treated by surgery, external radiotherapy, and/or brachytherapy (BT). In recent years, BT has become increasingly favored for this type of cancer. The aim of the present study was to analyze local control and survival of patients treated at our institution between July 1989 and June 2008. Material and methods: we performed a retrospective study of 121 patients (109 males and 12 females) who underwent lip cancer brachytherapy from July 1989 to June 2008. Median age was 67 years and median follow-up was 31.8 months (range 20-188 months). Out of 121 patients, 100 (82.6%) were treated with low dose rate (LDR) BT while the remaining 21 patients (17.4%) received high dose rate (HDR) BT. Results: the most common cell type was squamous cell carcinoma (115 cases; 95%) and most tumors were located on the lower lip (107 patients; 88.4%). Most cases were either stage T1 (62 patients; 51.2%), or T2 (44 cases; 36.4%). After 15 years of follow-up, overall survival was 89.5%, cause-specific survival 97.8%, and disease-free survival 86.6%. Local, regional, and distant control at 15 years were 90%, 92%, and 98.8%, respectively. Grade 3 mucosal toxicity was observed in 23% of patients treated with LDR compared to 33% of HDR patients, and grade 4 mucosal toxicity in 9% versus 0% in the HDR group. Conclusions: our findings confirm that brachytherapy is an effective treatment for lip cancer. The results from our series are in line with those published elsewhere. Based on our limited data, HDR appears to be equally as good as LDR, although this needs to be confirmed by further studies

Advantages of intraoperative implant for interstitial brachytherapy for accelerated partial breast irradiation either frail patients with early-stage disease or in locally recurrent breast cancer

Purpose: to describe the intraoperative multicatheter implantation technique for accelerated partial breast irradiation (APBI) delivered with high-dose-rate brachytherapy (HDR-BT). Secondarily, to evaluate outcomes and toxicity in a series of 83 patients treated with this technique at our institution. Material and methods: retrospective analysis of a series of patients treated with HDR-BT APBI after intraoperative multicatheter interstitial implant between November 2006 and June 2017 at our institution. We assessed cosmesis, toxicity, overall survival (OS), and disease-free survival (DFS). Results: eighty-three patients were included: 59 patients (71.1%) with primary early-stage breast cancer and 24 (28.9%) with locally recurrent breast cancer. Tumorectomy was performed in all cases, with intraoperative tumor margin assessment and sentinel node biopsy. Median age was 82 years (range, 44-92). The total prescribed dose was 32 Gy (8 treatment fractions) in 60 patients (72.3%), and 34 Gy (10 fractions) in 23 patients (27.7%). Median follow-up was 40 months (range, 1-136 months). Three-year OS and DFS in the recurrent and primary cancer groups were 87% vs. 89%, and 96 % vs. 97.8%, respectively. Five patients died from non-cancer related causes. No local relapses were observed. Rates of acute and late toxicity were low in both groups. The cosmesis was good or excellent in most of patients treated for primary disease; in patients who underwent salvage brachytherapy for local recurrence, cosmesis was good in 49 patients and fair in 6. Conclusions: this technique, although time-consuming, achieves good local disease control with a satisfactory toxicity profile in both early-stage and local recurrent breast cancer patients. It may be especially suitable for frail patients

Efficacy and tolerance of the topical application of potassium hydroxide (10% and 15%) in the treatment of molluscum contagiosum: Randomized clinical trial: Research protocol

<p>Abstract</p> <p>Background</p> <p>Molluscum contagiosum is a non-severe pediatric viral infection. Because it is highly contagious and current treatments have negative aesthetic and psychological effects, we want to test an alternative treatment in the primary care setting, consisting of two different concentrations of potassium hydroxide solution.</p> <p>Methods/design</p> <p>The study design is a double-blind, randomized clinical trial, using three types of topical treatment. The treatment consist of daily applications of potassium hydroxide (KOH) in aqueous solution at 10% and 15% concentration, and a placebo administered in the control group. Four follow-up visits (at 15, 30, 45 and 60 days) are planned to evaluate treatment effectiveness and patient tolerance.</p> <p>The main outcome measure of the trial will be the healing rate, defined as lesion disappearance in the affected zones after the topic application of the experimental treatment. Secondary measures will be the principal characteristics and evolution of the affected zone (surface area, number of lesions, size and density of lesions), treatment tolerance (hyperpigmentation, itching, burning, pain), recurrence rate and the natural evolution of lesions in the control group.</p> <p>Discussion</p> <p>KOH can potentially be an effective and safe treatment for MC in primary care, and can also reduce referrals to dermatologists and hospital pediatric departments. In addition, KOH may be a valid and less expensive alternative to current invasive treatments (surgical excision).</p> <p>Trial Registration</p> <p>ClinicalTrials.gov: <a href="http://www.clinicaltrials.gov/ct2/show/NCT01348386">NCT01348386</a></p

Los jóvenes y la reproducción asistida

Hasta no hace demasiados años, la naturaleza y la biología eran de los pocos fenómenos que proporcionaban seguridad debido a su estabilidad. En la actualidad estos procesos están cambiando rápidamente y el imaginario social se debe adaptar. Objetivo. El objetivo de este trabajo consiste en conocer la opinión de los jóvenes sobre la reproducción asistida (captar las representaciones ideológicas, valores, y creencias). Diseño y metodología: Se han realizado cinco grupos de discusión de seis jóvenes cada uno. La información generada en la investigación se ha presentado en forma de texto narrativo y posteriormente se ha realizado su análisis siguiendo el esquema propuesto de Miles y Huberman. (1994). Resultados: Se han establecido seis categorías que han emergido de los discursos, y finalmente se han analizado en un mapa de significados. Conclusiones: La tecnología reproductiva puede facilitar cambios en el territorio familiar y sobretodo en el femenino, al promover a partir de su reflexión cambios en las construcciones culturales de las personas. Sería conveniente establecer programas educativos en los que se informara sobre las estadísticas de infertilidad y sus causas, así como las técnicas de reproducción asistida que se pueden utilizar; éxitos, fracasos, y complicaciones, pues existe desconocimiento y confusión en sus futuros usuarios

The use of an interstitial boost in the conservative treatment of breast cancer: how to perform it routinely in a radiotherapy department

Purpose: to demonstrate the utility of a boost with interstitial brachytherapy (BT) in breast-conserving therapy (BCT) by doing a thorough review of the literature and describing in detail our technique for delivering this boost. Material and methods: our department has been delivering the boost with interstitial BT since 1989, in most cases with rigid needles and a theoretical dosimetry. In the early years, we used low-dose-rate (LDR) with iridium-192 wires. The dose administered was 15 Gy if there were no risk factors for local relapse or 20-25 Gy in the presence of risk factors. The risk factors considered were the presence of a close margin (less than 10 mm) and an extensive intraductal component (more than 25%). After 2002, we switched to high-dose-rate (HDR); using the linear quadratic model we changed the low dose to 3 fractions of 4.5 Gy in the case of no risk factors for local relapse or to 3 fractions of 5 Gy in the presence of risk factors. Results: in 79 consecutive boost patients treated in our department between 2010 and 2011, with a median follow-up of 46 months, the local control rate was 97.47%. With respect to cosmesis, fibrosis occurred in 17 cases (21.5%) and hyperpigmentation in 26 cases (32.9%). Our hospital's results are comparable in terms of local control and cosmesis to those of other authors. Conclusions: this educational article describes our department's boost technique with rigid needles and comments briefly on our results using this technique in a group of consecutively treated patients in our department. A review of the literature and the published results on local control and cosmesis is also described

TRAF3 Epigenetic Regulation Is Associated With Vascular Recurrence in Patients With Ischemic Stroke

Clopidogrel is one of the most used antiplatelet drugs in patients with cardiovascular disease. However, 16% to 50% of patients have a high on-clopidogrel platelet reactivity and an increased risk of ischemic events. The pathogenesis of high on-treatment platelet reactivity in patients with stroke is only partially explained by genetic variations. This study aims to find differentially methylated sites across the genome associated with vascular recurrence in ischemic stroke patients treated with clopidogrel