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espanolIntroduccion. Con esta investigacion se pretenden conocer diferentes cuestiones relacionadas con el uso de videojuegos por parte de hombres y mujeres. Objetivos. Se exploran posibles desigualdades entre jugadores y jugadoras de videojuegos, atendiendo a sus vivencias y opiniones, atendiendo especialmente a los y las streamers. Metodologia. Se ha llevado a cabo un estudio con metodologia mixta con la realizacion de una encuesta a 344 personas que juegan a videojuegos y de seis entrevistas a personas que se dedican a jugar a videojuegos y retransmitirlos. Resultados. Como resultados de la investigacion, podemos concluir que existen desigualdades entre jugadores y jugadoras en funcion de su sexo, especialmente cuando las partidas se retransmiten por streaming. Conclusiones y discusion. Estas diferencias se manifiestan tanto al continuar considerando que los videojuegos son un espacio masculinizado como por los prejuicios y estereotipos a los que deben hacer frente las mujeres. EnglishIntroduction. The purpose of this research is to find out about different issues related to the use of video games by men and women. Objectives. Possible inequalities between male and female video game players are explored, based on their experiences and opinions, with special attention to streamers. Methodology. A mixed methodology study was carried out with a survey of 344 people who play video games and six interviews with people who play video games and broadcast them. Results. As a result of the research, we can conclude that there are inequalities between male and female players depending on their gender, especially when the games are streamed. Conclusions and discussion. These differences are manifested both by continuing to consider video games as a masculinized space and by the prejudices and stereotypes that women have to face.

The epithelial sodium channel (ENaC) is a heterotrimer consisting of α-, β-, and γ-subunits. Channel activation requires proteolytic release of inhibitory tracts from the extracellular domains of α-ENaC and γ-ENaC; however, the proteases involved in the removal of the γ-inhibitory tract remain unclear. In several epithelial tissues, ENaC is coexpressed with the transmembrane serine protease 2 (TMPRSS2). Here, we explored the effect of human TMPRSS2 on human αβγ-ENaC heterologously expressed in Xenopus laevis oocytes. We found that coexpression of TMPRSS2 stimulated ENaC-mediated whole-cell currents by approximately threefold, likely because of an increase in average channel open probability. Furthermore, TMPRSS2-dependent ENaC stimulation was not observed using a catalytically inactive TMPRSS2 mutant and was associated with fully cleaved γ-ENaC in the intracellular and cell surface protein fractions. This stimulatory effect of TMPRSS2 on ENaC was partially preserved when inhibiting its proteolytic activity at the cell surface using aprotinin but was abolished when the γ-inhibitory tract remained attached to its binding site following introduction of two cysteine residues (S155C-Q426C) to form a disulfide bridge. In addition, computer simulations and site-directed mutagenesis experiments indicated that TMPRSS2 can cleave γ-ENaC at sites both proximal and distal to the γ-inhibitory tract. This suggests a dual role of TMPRSS2 in the proteolytic release of the γ-inhibitory tract. Finally, we demonstrated that TMPRSS2 knockdown in cultured human airway epithelial cells (H441) reduced baseline proteolytic activation of endogenously expressed ENaC. Thus, we conclude that TMPRSS2 is likely to contribute to proteolytic ENaC activation in epithelial tissues in vivo.

Context.— Point-of-care testing allows rapid analysis and short turnaround times. To the best of our knowledge, the present study assesses, for the first time, clinical, operative, and economic outcomes of point-of-care blood gas analysis in a nephrology department. Objective.— To evaluate the impact after implementing blood gas analysis in the nephrology department, considering clinical (differences in blood gas analysis results, critical results), operative (turnaround time, elapsed time between consecutive blood gas analysis, preanalytical errors), and economic (total cost per process) outcomes. Design.— A total amount of 3195 venous blood gas analyses from 688 patients of the nephrology department before and after point-of-care blood gas analyzer installation were included. Blood gas analysis results obtained by ABL90 FLEX PLUS were acquired from the laboratory information system. Statistical analyses were performed using SAS 9.3 software. Results.— During the point-of-care testing period, there was an increase in blood glucose levels and a decrease in pCO2, lactate, and sodium as well as fewer critical values (especially glucose and lactate). The turnaround time and the mean elapsed time were shorter. By the beginning of this period, the number of preanalytical errors increased; however, no statistically significant differences were found during year-long monitoring. Although there was an increase in the total number of blood gas analysis requests, the total cost per process decreased. Conclusions.— The implementation of a point-of-care blood gas analysis in a nephrology department has a positive impact on clinical, operative, and economic terms of patient care.

The present research paper was conducted with the goal of studying how young women interact with Sustainable Fashion, regarding both their level of knowledge and interest concerning the existing options when acquiring clothing items. Young women are a promising target for SF, showing interest in both fashion and sustainability, at a time when fashion companies have been increasing their sustainability measures to address increasingly conscious consumers. This study was based on the qualitative research and thematic analysis of 23 in-depth interviews of women aged 19 to 27 years old. The main conclusions drawn are that young women are interested in SF, but there is a significant lack of concrete knowledge regarding the subject, especially when the individuals do not partake in research from their own initiative. They also believe the education of consumers is crucial for SF to become more mainstream. Therefore, brands should take advantage of their advertisement of SF and focus on creating conscious awareness so consumers will opt to invest in sustainable products when purchasing clothing items.

Kidney transplantation is the renal replacement therapy of choice in patients with end-stag ekidney disease. Immunosuppressive drugs are the main pillar of treatment in solid organ transplantation as they reduce rejection rates and increase graft survival. However, they can also cause significant side effects that can complicate transplant progression. The objective of this chapter is to outline the main characteristics of immunosuppressantsagents, their mechanisms of action and the side effects.El tratamiento de elección en los pacientes con enfermedad renal avanzada es el trasplante renal. Los fármacos inmunosupresores constituyen el pilar fundamental de la terapia en el trasplante de órgano sólido, ya que permiten disminuir las tasas de rechazo y aumentar la supervivencia del injerto. Sin embargo, también pueden provocar efectos adversos que pueden complicar la evolución del trasplante. El objetivo de este capítulo es exponer las características de los principales inmunosupresores, sus mecanismos de acción y principales efectos secundarios.

BACKGROUND: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understood. EHD1 belongs to a family of proteins presumably involved in the scission of intracellular vesicles and in ciliogenesis. However, the relevance of EHD1 in human tissues, in particular in the kidney, was unknown.METHODS: Genetic techniques were used in patients with tubular proteinuria and deafness to identify the disease-causing gene. Diagnostic and functional studies were performed in patients and disease models to investigate the pathophysiology.RESULTS: We identified six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit associated with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran. Interestingly, ciliogenesis appeared unaffected in patients and mouse models. In silico structural analysis predicted a destabilizing effect of the R398W variant and possible inference with nucleotide binding leading to impaired EHD1 oligomerization and membrane remodeling ability.CONCLUSIONS: A homozygous missense variant of EHD1 causes a previously unrecognized autosomal recessive disorder characterized by sensorineural deafness and tubular proteinuria. Recessive EHD1 variants should be considered in individuals with hearing impairment, especially if tubular proteinuria is noted.

Background and Aims Changes on body composition have an impact on the survival of haemodialysis (HD) patients. The aim of the study was to determine the impact of the reduction of physical activity due to COVID19 lockdown on body composition in HD patients. Method Retrospective and observational study including 149 HD patients. Nutritional and Bioimpedance spectroscopy (BIS) data were recorded before and after COVID19 lockdown (mean of 148 ± 20 days between determinations). Results Over the 49 days of COVID19 lockdown, we observed a decrease in normohydrated weight (NHW) of 1.01 ± 3.59 kg mainly secondary to a reduction on total body water (TBW) 0.95 ± 3.78 L (extracellular water 0.45 ± 1.58 L and intracellular water 0.41 ± 2.36 L). There was also a small loss on lean tissue index (LTI) of 0.28 ± 2.42 kg/m2, with an increase of fat tissue index (FTI) 0f 0.02 ± 2.82 kg/m2. Twenty-three patients presented COVID19 infection, of which 21 required admission (median of 10 [4-16] days). Patients who presented COVID19 were older (70.7 ± 12.0 vs 64.9 ± 16.6 years, NS) with higher Charlson index (7.48 ± 2.77 vs 6.33 ± 2.65, p = 0.07). Patients with COVID19 infection presented a greater loss on LTI (-1.18 ± 3.15 bs -0.16 ± 2.30 kg/m2; p = 0.22), FTI (-0.41 ± 3.38 vs 0.06 ± 2.74 kg/m2; p = 0.54); BMI (-1.49 ± 2.14 vs -0.25 ± 0.96 kg/m2; p = < 0.01) and NHW (-4.00 ± 6.33 vs -0.62 ± 2.90 kg; p = < 0.01) compared to patients without COVID19 infection. The length of hospitalization was associated with greater loss of BMI and NHW, resulting, therefore, in overhydration. There also had lower serum phosphorus (3.6 ± 0.8 vs 5.2 ± 0.8 mg/dl; p = 0.01) and serum albumin (3.5 ± 0.4 vs 4.0 ± 0.1 g/dl; p = 0.01). Seven patients died during hospitalization. Deceased patients were older (78.4 ± 6.6 vs 67.4 ± 12.4 years; p = 0.01), presented higher comorbidity (estimated by Charlson index 10.0 [8.0-11.0] vs 6.5 [4.3-8.0]; p = 0.02) and were more overhydrated (3.4 ± 3.6 vs 1.9 ± 1.9; p = 0.34). Although not statistically different, they had lower LTI (10.4 ± 2.1 vs 12.0 ± 3.4 kg/m2; p = 0.18) and lower serum albumin (3.4 ± 0.6 vs 3.9 ± 0.4 g/dl; p = 0.08) compared to survivors. Patients who survived COVID19 infection had longer hospitalization (57% were discharged between twelfth and forty third day; mean hospitalization 14.6 ± 11.5 days). Deceased patients died within the first 12 days of hospitalization (6.8 ± 4.1 days). Conclusion COVID19 lockdown induced a weight reduction on HD patients due to decrease in total body water. COVID19 infection increased this reduction, inducing greater loss on lean and fat tissue composition. Moreover, COVID19 impact on body composition was magnified with the length of hospitalization.

Background and Aims Thin basement membrane nephropathy (TBMN), the most common cause of persistent microhaematuria (mH), is due to mutations in genes codifying alfa-3 and alfa-4 collagen IV chains (COL4A4/COL4A3). Initially considered as a benign condition, subsequent studies have shown that an important number of patients develop proteinuria and CKD. We reported in a previous small study the presence of multicystic kidney disease (MCD) in some TBMD patients. In this study we aimed to evaluate the presence of MCD in a larger cohort of TBMD patients and analyze its association with renal outcomes. Method We collected 50 patients with a diagnosis of TBMD based on the presence of persistent mH (>5 erythocytes per high power field in more than 90% of urinary sediments and radiological examinations to exclude other causes of mH) and at least one first-degree relative with persistent mH. TBMD diagnosis was confirmed by renal biopsy (glomerular basement membrane thickness less than 150nm) in 18 patients and by genetic test (pathogenic mutations in COL4A3/COL4A4) in 6 patients. MCD was diagnosed by the presence of uncountable cysts on renal ultrasonography. Results Mean age at diagnosis was 43.7 years, 34% were males and 18% had hypertension. At baseline, serum creatinine (SCr) was 0.9 mg/dL, proteinuria 0.48 gr/24h and 9 patients (18%) had CKD (estimated glomerular filtration rate -eGFR- lower than Conclusion MCD is frequently observed in TBMD patients and is a risk factor for the progression of CKD.

Background and Aims The evolution of renal disease and its global impairment in patients diagnosed with ANCA-associated vasculitis (AAV) has been related to baseline C3 serum levels in several studies. The objective of this study is to evaluate in patients diagnosed with AAV and renal impairment the association between baseline serum C3 levels and the clinical outcomes. Method Our cohort included 56 patients diagnosed with AAV diagnosed from January 1986 to January 2018 in Hospital La Paz. According to C3 serum level measurements, patients were divided into low and normal concentration groups at onset. Histological, clinical and laboratory data were compared between groups. Results Among the 56 AAV cases, 58.9% were women and 96.5% Caucasian with an age mean and SD of 61.08 ± 15.11 years. Mean follow-up was 10.03 ± 7.02 years. MPO ANCAs were found in 69.8% of the patients and PR3 ANCAs in 22.64%. AAV diagnosis was earlier in PR3 AVV (47.59 ± 13.62 years) compared to MPO AVV (65.66 ± 11.53 years) (p=0.001). At diagnosis, baseline serum C3 was measured in 53 patients (94.6%) being lower in MPO AAV (112.79 ± 33.98) vs PR3 AAV (132.41 ± 20.69) (p=0.023). Low C3 was way more frequent in patients with higher percentage of glomeruli showing >50% of sclerosis (100% vs 32.5%) (p=0.007). Staphylococcus aureus nasal carriers were more frequent in patients with low C3 (27.2% vs 3.1%, p=0.045). 15 patients (27.77%) died during follow-up and patient survival median was 21.75 years (IC 95%: 15.41-28.08). 17 patients (31.48%) reached end-stage renal disease (ESRD) during follow-up and renal survival median was 20.1 years (IC 95%: 19.27-21.05). There were no statistical differences in the levels of baseline serum C3 according to sex, relapses, extrarenal manifestations, treatment, malignancy, cardiovascular events and time to ESRD or death. Conclusion Baseline serum C3 was lower in MPO AV, in Staphylococcus aureus nasal carriers and higher severity histological damage (glomerular sclerosis >50%). Despite previous evidence, in our cohort, time to ESRD and time to death seemed not to be affected.

Cystic Fibrosis (CF) is caused by mutations in the CF Transmembrane conductance Regulator (CFTR), the only ATP-binding cassette (ABC) transporter functioning as a channel. Unique to CFTR is a regulatory domain which includes a highly conformationally dynamic region&mdash, the regulatory extension (RE). The first nucleotide-binding domain of CFTR contains another dynamic region&mdash, regulatory insertion (RI). Removal of RI rescues the trafficking defect of CFTR with F508del, the most common CF-causing mutation. Here we aimed to assess the impact of RE removal (with/without RI or genetic revertants) on F508del-CFTR trafficking and how CFTR modulator drugs VX-809/lumacaftor and VX-770/ivacaftor rescue these variants. We generated cell lines expressing &Delta, RE and &Delta, RI CFTR (with/without genetic revertants) and assessed CFTR expression, stability, plasma membrane levels, and channel activity. Our data demonstrated that &Delta, RI significantly enhanced rescue of F508del-CFTR by VX-809. While the presence of the RI seems to be precluding full rescue of F508del-CFTR processing by VX-809, this region appears essential to rescue its function by VX-770, suggesting some contradictory role in rescue of F508del-CFTR by these two modulators. This negative impact of RI removal on VX-770-stimulated currents on F508del-CFTR can be compensated by deletion of the RE which also leads to the stabilization of this mutant. Despite both regions being conformationally dynamic, RI precludes F508del-CFTR processing while RE affects mostly its stability and channel opening.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic hereditary renal disease, promoting end-stage renal disease (ESRD). Klinefelter syndrome (KS) is a consequence of an extra copy of the X chromosome in males. Main symptoms in KS include hypogonadism, tall stature, azoospermia, and a risk of cardiovascular diseases, among others. Gitelman syndrome (GS) is an autosomal recessive disorder caused by SLC12A3 variants, and is associated with hypokalemia, hypomagnesemia, hypocalciuria, normal or low blood pressure, and salt loss. The three disorders have distinct and well-delineated clinical, biochemical, and genetic findings. We here report a male patient with ADPKD who developed early chronic renal failure leading to ESRD, presenting with an intracranial aneurysm and infertility. NGS identified two de novo PKD1 variants, one known (likely pathogenic), and a previously unreported variant of uncertain significance, together with two SLC12A3 pathogenic variants. In addition, cytogenetic analysis showed a 47, XXY karyotype. We investigated the putative impact of this rare association by analyzing possible clinical, biochemical, and/or genetic interactions and by comparing the evolution of renal size and function in the proband with three age-matched ADPKD (by variants in PKD1) cohorts. We hypothesize that the coexistence of these three genetic disorders may act as modifiers with possible synergistic actions that could lead, in our patient, to a rapid ADPKD progression.

C3 glomerulopathy (C3G) is a severe kidney disease, which is caused by defective regulation of the alternative complement pathway. Disease pathogenesis is heterogeneous and is caused by both autoimmune and genetic factors. Here we characterized IgG autoantibodies derived from 33 patients with autoimmune C3 glomerulopathy. Serum antibodies from all 33 patients as well as purified IgGs bound to the in vitro assembled C3-convertase. Noteworthy, two groups of antibodies were identified: group 1 with strong (12 patients) and group 2 with weak binding C3-convertase autoantibodies (22 patients). C3Nef, as evaluated in a standard C3Nef assay, was identified in serum from 19 patients, which included patients from group 1 as well as group 2. The C3-convertase binding profile was independent of C3Nef. Group 1 antibodies, but not the group 2 antibodies stabilized the C3-convertase, and protected the enzyme from dissociation by Factor H. Also, only group 1 antibodies induced C3a release. However, both group 1 and group 2 autoantibodies bound to the C5-convertase and induced C5a generation, which was inhibited by monoclonal anti-C5 antibody Eculizumab in vitro. In summary, group 1 antibodies are composed of C3Nef and C5Nef antibodies and likely over-activate the complement system, as seen in hemolytic assays. Group 2 antibodies show predominantly C5Nef like activities and stabilize the C5 but not the C3-convertase. Altogether, these different profiles not only reveal a heterogeneity of the autoimmune forms of C3G (MPGN), they also show that in diagnosis of C3G not all autoimmune forms are identified and thus more vigorous autoantibody testing should be performed.

Saline groundwater desalination has recently emerged as an alternative source of irrigation water in arid and semiarid regions due to the gradual reduction in the quantity and quality of conventional water resources for agricultural use. In Fuerteventura Island (Spain), an extremely arid territory in the European Union, brackish water desalination is one of the few available water sources for agricultural production. Very little research has been conducted on the microbiological quality of this water mainly used for irrigation of vegetable crops. Free-living amoebae (FLA) are widely distributed protozoa in the environment and have been isolated from many environmental sources such as dust, soil and water. Among the pathogenic genera included in this group, Acanthamoeba spp., Naegleria fowleri and Balamuthia mandrillaris have been reported to be causative agents of lethal encephalitis, disseminated infections and keratitis. Particularly, Naegleria fowleri is a pathogenic FLA species which causes primary amoebic meningoencephalitis (PAM). In the present study, the presence of pathogenic FLA strains on desalinated brackish water samples for irrigation has been evaluated during 7 months. From the analysed samples, only one was positive for Naegleria australiensis. This is the first report of Naegleria spp. in desalinated brackish water for irrigation in Spain.

Background: Congenital nephrogenic diabetes insipidus (NDI) is a rare condition characterized by severe polyuria, due to the inability of the kidneys to concentrate urine in response to arginine vasopressin (AVP). In the majority of the cases, the disease shows an X‐linked inherited pattern, although an autosomal recessive inheritance was also observed. Methods: We report a patient with a severe NDI diagnosed during the neonatal period. Because the patient was female without a family history of congenital NDI, her disease was thought to exhibit an autosomal recessive form. Results: A full mutation analysis of AVP receptor 2 (AVPR2; MIM#300538) gene showed no mutations. However, direct Sanger sequencing of the aquaporin 2 (AQP2) revealed an apparently homozygous mutation at nucleotide position NM_000486.5:c.374C>T (p.Thr125Met) in exon 2. Further customized multiplex ligation‐dependent probe amplification (MLPA), single‐nucleotide polymorphism (SNP) array analysis, and long‐range polymerase chain reaction (PCR) followed by Sanger sequencing showed a heterozygous exonic deletion comprising exons 2, 3, and partially 4 of AQP2. Conclusion: This is the first case of a compound heterozygote patient with a missense mutation involving NM_000486.5:exon2:c.374C>T (p.Thr125Met) and a gross deletion of at least exons 2, 3, and partially 4 on the AQP2 to present with a severe NDI phenotype, This study was supported in part by grants from the Research Activity Intensification Program (Programa Intensificación Actividad Investigadora) (IdiPAZ and Agencia Laín‐Entralgo/CM) to R.P. ISCIII RETIC REDINREN RD16/0009 FEDER FUNDS, and (Programa Intensificación Actividad Investigadora) (IdiPAZ and FIBHULP) to J.N.

Background and Purpose: Cystic Fibrosis (CF) is caused by mutations in the CF Transmembrane conductance Regulator (CFTR), the only ABC transporter functioning as a channel. Unique to CFTR are two highly conformationally dynamic regions: the regulatory extension (RE) and regulatory insertion (RI). Removal of the latter rescues the trafficking defect of CFTR with F508del, the most common CF-causing mutation.We aimed here to assess the impact of RE removal (alone or with RI or genetic revertants) on F508del-CFTR traffic and how CFTR modulator drugs corrector VX-809/lumacaftor and potentiator VX-770/ivacaftor rescue these combined variants so as to gain insight into the mechanism of action (MoA) of these drugs.Experimental Approach. We generated ∆RE and ∆RI CFTR variants (with and without genetic revertants) by site-directed mutagenesis and used them to stably transfect BHK cell lines. We studied CFTR expression and stability by Western blotting and pulse-chase respectively, plasma membrane levels by cell surface biotinylation and channel activity by the iodide efflux technique.Key Results. Our data demonstrate that ∆RI significantly enhanced rescue of F508del-CFTR by VX-809. Thus, while the presence of the regulatory insertion seems to be precluding full rescue of F508del-CFTR processing by VX-809, this region appears essential to rescue its function by VX-770, thus suggesting some contradictory role in rescue of F508del-CFTR by these two modulators. Nevertheless, this negative impact of RI removal on VX-770-stimulated currents on F508del-CFTR can be compensated by deletion of the regulatory extension which also leads to the stabilization of this mutant. We thus propose that, despite both these regions being conformationally active, RI precludes F508del-CFTR processing while RE affects mostly its stability and channel opening.Supporting Information: Additional figures with supplementary data

Mestrado em Marketing O processo de adopção de novos produtos permanece um dos tópicos mais interessantes em estudos de comportamento do consumidor, particularmente no caso de inovações radicais. O propósito deste estudo prende-se com entender os factores que influenciam a decisão de fumadores adultos de adoptar ou não o iQOS, um sistema revolucionário que aquece o tabaco ao invés de o queimar e que permite uma experiência de consumo sem fumo com níveis de toxicidade significativamente menores que as alternativas actualmente disponíveis no mercado. A novidade do produto e os constrangimentos únicos (e.g., legislação imposta à indústria tabaqueira) que se colocam à actuação da marca-mãe, tornam a difusão desta inovação particularmente complexa. Para avaliar o impacto de potenciais influenciadores do processo de adopção do iQOS, realizaram- se entrevistas em profundidade para investigar as percepções de fumadores relativamente: (1) às características do produto/inovação, propostas por Rogers (1983) e (2) à percepção de potenciais riscos da inovação. O estudo adoptou uma abordagem interpretativista. Foi analisada a experiência de adopção de dois indivíduos utilizadores iQOS e conduzida uma experiência com seis participantes sem experiência prévia com o iQOS, envolvendo entrevistas pré e pós-teste. Os resultados sugerem que existe resistência à inovação, apesar de todos os praticantes reconhecerem o iQOS como a forma de consumir tabaco que menos impactos negativos tem na saúde do fumador. Desta forma, para aumentar a taxa de adopção entre fumadores, são apresentadas algumas sugestões. The consumer adoption process continues to be one of the most intriguing areas of consumer behaviour, particularly regarding radical innovations. The purpose of this study is to understand adult smokers' motivators to adopt iQOS, a breakthrough tobacco heating system that is smoke free and allows a smoking experience with significantly reduced harmful chemicals than the existing alternatives. The newness of the product and its company's contingencies has turned this body of research even more complex, fuelling further investigation suggestions. In order to achieve results on potential causes for the iQOS' adoption process, in-depth-interviews were conducted, based on (1) Rogers' (1983) innovation characteristics and (2) consumer perceived risks. An interpretative approach granted a deeper knowledge on the subject, comparing experiences between iQOS users and iQOS testers with qualitative content analysis. The results suggest iQOS is still facing resistance to innovation, despite participants recognizing less potentially negative health effects on iQOS than the alternatives. Some potential risk-relievers are presented in order to increase adoption rates among adult smokers. info:eu-repo/semantics/publishedVersion

Background: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episo des of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Subsequently, they were diagnosed with renal amyloidosis secondary to familial Mediterranean fever and were successfully treated with anakinra and colchicine. Case presentation: Two brothers with familial Mediterranean fever and renal amyloidosis were the inadvertent donor and recipient, respectively, of a kidney. The recipient had presented recurrent acute febrile episodes of familial Mediterranean fever, developed nephrotic syndrome secondary to amyloidosis and needed bilateral nephrectomy and chronic dialysis. His elder brother, in apparent good health, donated his left kidney to his brother. Immediately after the kidney transplantation, both the donor and recipient presented massive proteinuria, impaired renal function and elevated serum amyloid A levels. Biopsies of the brothers' kidneys showed amyloidosis. Genetic studies thereafter revealed a homozygous variant for the MEFV gene (NM_000243.2.c.2082G > A; p.M694I) in both brothers. At this point, both the donor and recipient were treated with colchicine and anakinra, resulting in improved renal function, decreased proteinuria, undetectable serum amyloid A levels and stable renal function at 62 months of follow-up and no major adverse effects. Conclusions: In familial Mediterranean fever, analyses of the MEFV gene should be performed in potential live kidney donors from a direct family member (either between siblings or between parents and children). In addition, genetic studies are required when consanguinity is suspected between members involved in the living transplant. Finally, anakinra could be a safe adjuvant therapy combined with colchicine for patients with familial Mediterranean fever and amyloidosis, including those with successful kidney transplantation, This study was supported in part by grants from the Research Activity Intensification Program (Programa Intensificación Actividad Investigadora) (IdiPAZ and Agencia Laín-Entralgo/CM) to R.P. ISCIII RETIC REDINREN RD16/0009 FEDER FUNDS

Mestrado em Engenharia e Gestão Industrial O mercado das telecomunicações e das tecnologias da informação é caraterizado por uma elevada instabilidade e competitividade. Deste modo, a aposta na diferenciação, no estabelecimento de vantagens competitivas e na melhoria contínua são pontos fulcrais para o sucesso das empresas tecnológicas. A empresa tecnológica PT Inovação e Sistemas, S.A. apresenta a necessidade de melhorar a gestão económica e física de materiais. Neste sentido, o presente Projeto propõe a introdução de melhorias ao nível da gestão de stocks e do armazém da referida empresa, segundo a realização de análises ABC, da determinação de stocks de segurança adequados e da redefinição do layout atual. Definem-se também critérios de alocação dos materiais no espaço de armazenagem e propõe-se a introdução de um sistema de controlo e rastreabilidade de materiais. Como fruto do presente trabalho, os resultados obtidos tiveram um impacto positivo, possibilitando um aumento da produtividade e da eficiência nos processos associados à gestão de materiais da organização. The market of telecommunications and information technology is characterized by high instability and competitiveness. Thus, the focus on differentiation, the establishing of competitive advantages and the continuous improvement are key points for the success of technology companies. The technology company PT Inovação e Sistemas S.A. needs to improve its economic and physical materials management. This Project suggests improvements in stock management and warehouse management, according to the ABC analysis, calculating appropriate safety stocks and changing the current layout. Criteria for allocation of materials in storage space are defined and it is suggested a system of control and traceability of materials. As a result of this work, the results had a positive impact, enabling an increased productivity and efficiency in the processes associated with company’s materials management.