Transcultural adaptation and validation of IMPACT-III and IMPACT-III-P in Spanish families: a multicenter study from SEGHNP.

IMPACT-III and IMPACT-III-P are health-related quality of life (HRQoL) questionnaires for patients with pediatric inflammatory bowel disease (p-IBD) and their parents/caregivers. We aimed to perform a transcultural adaptation and validation for the Spanish context. Translation, back-translation, and evaluation of the questionnaires were performed by an expert committee and 12 p-IBD families. We recruited p-IBD patients aged 10-17 and their parents/caregivers. Utility, content, and face validity were considered. Validation was performed with Cronbach's alpha coefficient and varimax rotation. We confirmed the adequacy of the factor analysis using Kaiser-Meyer-Olkin (KMO) and Bartlett's sphericity tests. A confirmatory factor analysis was performed using the following goodness indexes: chi-square, Normed Fit Index (NFI), Root Mean Square Error of Approximation index (RMSEA), Standardized Root Mean Square Residual (SRMR), and Comparative Fit Index (CFI). The correlation coefficient between IMPACT-III and IMPACT-III-P was analyzed. We included 370 patients and 356 parents/caregivers (37 hospitals). Both questionnaires had good content and face validity and were considered user-friendly. The KMO measure (0.8998 and 0.9228, respectively) and Bartlett's sphericity test (p-value < 0.001 for both) confirmed the adequacy of the factor analysis. The 4-factor model, complying with Kaiser's criterion, explained 89.19% and 88.87% of the variance. Cronbach's alpha (0.9123 and 0.9383) indicated excellent internal consistency. The CFA showed an adequate fit (NFI 0.941 and 0.918, RMSEA 0.048 and 0.053, SRMR 0.037 and 0.044, and CFI 0.879 and 0.913). The correlation coefficient was excellent (0.92). CONCLUSION: The SEGHNP versions of IMPACT-III and IMPACT-III-P are valid and reliable instruments for Spanish p-IBD families. WHAT IS KNOWN: • IMPACT-III and parent-proxy IMPACT-III (IMPACT-III-P) are useful questionnaires for assessing health-related quality of life (HRQoL) in pediatric inflammatory bowel disease (p-IBD) patients and their parents/caregivers and have been translated and validated in several countries. • To date, no transcultural adaptation and validation of these questionnaires have been published for Spanish patients with p-IBD and their families. WHAT IS NEW: • This is the first transcultural adaptation and validation of IMPACT-III and IMPACT-III-P for Spanish p-IBD families. • These are valid and reliable instruments for assessing HRQoL in Spanish families of patients with p-IBD.

Blood gene expression biomarkers of response to anti-TNF drugs in pediatric inflammatory bowel diseases before initiation of treatment.

BACKGROUND/AIMS: Changes in gene expression profiles among individuals with inflammatory bowel diseases (IBDs) could potentially influence the responsiveness to anti-TNF treatment. The aim of this study was to identify genes that could serve as predictors of early response to anti-TNF therapies in pediatric IBD patients prior to the initiation of treatment. METHODS: We conducted a prospective, longitudinal, and multicenter study, enrolling 24 pediatric IBD patients aged less than 18 years who were initiating treatment with either infliximab or adalimumab. RNA-seq from blood samples was analyzed using the DESeq2 library by comparing responders and non-responders to anti-TNF drugs. RESULTS: Bioinformatic analyses unveiled 102 differentially expressed genes, with 99 genes exhibiting higher expression in responders compared to non-responders prior to the initiation of anti-TNF therapy. Functional enrichment analyses highlighted defense response to Gram-negative bacteria (FDR = 2.3 ×10-7) as the most significant biological processes, and hemoglobin binding (FDR = 0.002), as the most significant molecular function. Gene Set Enrichment Analysis (GSEA) revealed notable enrichment in transcriptional misregulation in cancer (FDR = 0.016). Notably, 13 genes (CEACAM8, CEACAM6, CILP2, COL17A1, OLFM4, INHBA, LCN2, LTF, MMP8, DEFA4, PRTN3, AZU1, and ELANE) were selected for validation, and a consistent trend of increased expression in responders prior to drug administration was observed for most of these genes, with findings for 4 of them being statistically significant (CEACAM8, LCN2, LTF2, and PRTN3). CONCLUSIONS: We identified 102 differentially expressed genes involved in the response to anti-TNF drugs in children with IBDs and validated CEACAM8, LCN2, LTF2, and PRTN3. Genes participating in defense response to Gram-negative bacterium, serine-type endopeptidase activity, and transcriptional misregulation in cancer are good candidates for anticipating the response to anti-TNF drugs in children with IBDs.

Polymorphisms indicating risk of inflammatory bowel disease or antigenicity to anti-TNF drugs as biomarkers of response in children.

Few genetic polymorphisms predict early response to anti-TNF drugs in inflammatory bowel disease (IBD), and even fewer have been identified in the pediatric population. However, it would be of considerable clinical interest to identify and validate genetic biomarkers of long-term response. Therefore, the aim of the study was to analyze the usefulness of biomarkers of response to anti-TNFs in pediatric IBD (pIBD) as long-term biomarkers and to find differences by type of IBD and type of anti-TNF drug. The study population comprised 340 children diagnosed with IBD who were treated with infliximab or adalimumab. Genotyping of 9 selected SNPs for their association with early response and/or immunogenicity to anti-TNFs was performed using real-time PCR. Variants C rs10508884 (CXCL12), A rs2241880 (ATG16L1), and T rs6100556 (PHACTR3) (p value 0.049; p value 0.03; p value 0.031) were associated with worse long-term response to anti-TNFs in pIBD. DNA variants specific to disease type and anti-TNF type were identified in the pediatric population. Genotyping of these genetic variants before initiation of anti-TNFs would enable, if validated in a prospective cohort, the identification of pediatric patients who are long-term responders to this therapy.

The landscape of hematology research in Brazil: an analysis of data from citation databases

ABSTRACT Introduction: Scientometrics is the field concerned with measuring and analyzing academic literature, using specific metrics and data from bibliometric databases. Hematology is a broad area of science and medicine, from which several landmark scientific discoveries have emerged. Objective: The aim of this report is to provide a snapshot of the landscape of hematology research in Brazil, based on a comprehensive analysis of published studies in hematology whose authors were affiliated to Brazilian institutions from 1980 to 2020. Method: Articles, reviews and letters to the editor with at least one author affiliated to a Brazilian institution were retrieved from Incytes/Web of Science or Scopus databases. Importantly, only papers classified in the subject area "Hematology" by the embedded algorithms of each database were included. Results: Considering all published papers, Brazil is in the 22nd position, contributing with around 1.1% of papers in this period. A clear and sustained increase in publication output can be observed from the early 1990's to the present moment. Publicly-funded higher education institutions were the main contributors to the development and consolidation of the hematology scientific community, which has grown in diversity, with an increasing number of contributions from private institutions. In regard to funding, public agencies have been and remain by large as the most important funder of research in hematology in Brazil. Conclusion: We suggest that continuous monitoring of the temporal trends of some of the data compiled in our report could potentially contribute to a clearer picture of the development of hematology research in Brazil.

Prognostic significance of plasma chloride in elderly patients hospitalized for acute heart failure.

AIMS: Previous studies demonstrated the relationship between hypochloraemia and poor prognosis in patients hospitalized for acute heart failure (AHF). However, the usefulness of chloride in clinical practice remains uncertain, notably in very old patients with predominantly heart failure (HF) with preserved ejection fraction (HFpEF). We aimed to evaluate the prognostic impact of chloride in a cohort of very aged patients with AHF and the possible existence of different phenotypes of hypochloraemia with distinct clinical significance. METHODS AND RESULTS: It was an observational study of 429 patients hospitalized for AHF in which chloraemia was measured. Two different phenotypes of hypochloraemia were identified by their relationship with estimated plasma volume status (ePVS) as a proxy of intravascular congestion. The endpoint of interest was time to all-cause mortality and the composite of death and/or HF readmission. A multivariable Cox proportional hazard regression model was constructed to analyse the endpoints. The median age was 85 (78-92) years, 266 (62%) were women, and 80% had HFpEF. After multivariable analysis, chloraemia, but not natraemia, was associated with the risk of death and HF readmission in a U-shaped pattern. The phenotype characterized by hypochloraemia and low ePVS (depletional) was associated with an increased risk of mortality when compared with patients with normochloraemia [hazard ratio (HR) 1.86, P = 0.008]. In contrast, hypochloraemia with high ePVS (dilutional) had no prognostic significance (HR 0.94, P = 0.855). CONCLUSIONS: In very old patients hospitalized with AHF, plasma chloride was associated with the risk of death and HF readmission in a U-shaped pattern and could potentially be used for congestion phenotyping.

Presbiacusia y trastornos del equilibrio en personas mayores. Revision bibliográfica de aspectos etiopatogénicos, consecuencias sobre la calidad de vida y efectos positivos de su tratamiento / Presbycusis and balance disorders in the elderly. Bibliographical review of ethiopathogenic aspects, consequences on quality of life and positive effects of its treatment

A día de hoy, todavía no disponemos de un conocimiento ni una concienciación adecuados sobre las consecuencias que alcanza en la calidad de vida la pérdida de audición en personas mayores. De la misma manera, tampoco existe información suficiente en cuanto a la relación de la presbiacusia y las alteraciones del equilibrio con otras comorbilidades. Dicho conocimiento puede contribuir a mejorar tanto la prevención como el tratamiento de estas patologías, a reducir su impacto en otras áreas como la cognición o la autonomía, así como para poseer una información más certera sobre el impacto económico que generan en la sociedad y en el sistema sanitario.Por ello, con la realización de este artículo de revisión nos planteamos actualizar la información sobre el tipo de hipoacusia y las alteraciones del equilibrio en personas mayores de 55 años, así como sus factores asociados; analizar el impacto que genera en la calidad de vida de estas personas y el que se puede generar a nivel personal y poblacional (tanto en el ámbito sociológico como económico) si se persigue una intervención temprana en estos pacientes. (AU)

At this time, we still do not have adequate knowledge and awareness of the consequences of hearing loss in the elderly on quality of life. Similarly, there is also insufficient information on the relationship of presbycusis and balance disorders with other comorbidities. Such knowledge can contribute to improve both prevention and treatment of these pathologies, to reduce their impact on other areas such as cognition or autonomy, as well as to have more accurate information on the economic impact they generate in society and in the health system.Therefore, with this review article we aim to update the information on the type of hearing loss and balance disorders in people over 55 years of age, and their associated factors; to analyze the impact on the quality of life of these people and the one which can be generated at a personal and population level (both sociological and economic) if an early intervention in these patients is pursued. (AU)

Presbycusis and balance disorders in the elderly. Bibliographical review of ethiopathogenic aspects, consequences on quality of life and positive effects of its treatment.

At this time, we still do not have adequate knowledge and awareness of the consequences of hearing loss in the elderly on quality of life. Similarly, there is also insufficient information on the relationship of presbycusis and balance disorders with other comorbidities. Such knowledge can contribute to improve both prevention and treatment of these pathologies, to reduce their impact on other areas such as cognition or autonomy, as well as to have more accurate information on the economic impact they generate in society and in the health system. Therefore, with this review article we aim to update the information on the type of hearing loss and balance disorders in people over 55 years of age, and their associated factors; to analyze the impact on the quality of life of these people and the one which can be generated at a personal and population level (both sociological and economic) if an early intervention in these patients is pursued.

Association between HLA DNA Variants and Long-Term Response to Anti-TNF Drugs in a Spanish Pediatric Inflammatory Bowel Disease Cohort.

The genetic polymorphisms rs2395185 and rs2097432 in HLA genes have been associated with the response to anti-TNF treatment in inflammatory bowel disease (IBD). The aim was to analyze the association between these variants and the long-term response to anti-TNF drugs in pediatric IBD. We performed an observational, multicenter, ambispective study in which we selected 340 IBD patients under 18 years of age diagnosed with IBD and treated with anti-TNF drugs from a network of Spanish hospitals. Genotypes and failure of anti-TNF drugs were analyzed using Kaplan-Meier curves and Cox logistic regression. The homozygous G allele of rs2395185 and the C allele of rs2097432 were associated with impaired long-term response to anti-TNF drugs in children with IBD after 3 and 9 years of follow-up. Being a carrier of both polymorphisms increased the risk of anti-TNF failure. The SNP rs2395185 but not rs2097432 was associated with response to infliximab in adults with CD treated with infliximab but not in children after 3 or 9 years of follow-up. Conclusions: SNPs rs2395185 and rs2097432 were associated with a long-term response to anti-TNFs in IBD in Spanish children. Differences between adults and children were observed in patients diagnosed with CD and treated with infliximab.

The landscape of hematology research in Brazil: an analysis of data from citation databases.

INTRODUCTION: Scientometrics is the field concerned with measuring and analyzing academic literature, using specific metrics and data from bibliometric databases. Hematology is a broad area of science and medicine, from which several landmark scientific discoveries have emerged. OBJECTIVE: The aim of this report is to provide a snapshot of the landscape of hematology research in Brazil, based on a comprehensive analysis of published studies in hematology whose authors were affiliated to Brazilian institutions from 1980 to 2020. METHOD: Articles, reviews and letters to the editor with at least one author affiliated to a Brazilian institution were retrieved from Incytes/Web of Science or Scopus databases. Importantly, only papers classified in the subject area "Hematology" by the embedded algorithms of each database were included. RESULTS: Considering all published papers, Brazil is in the 22nd position, contributing with around 1.1% of papers in this period. A clear and sustained increase in publication output can be observed from the early 1990's to the present moment. Publicly-funded higher education institutions were the main contributors to the development and consolidation of the hematology scientific community, which has grown in diversity, with an increasing number of contributions from private institutions. In regard to funding, public agencies have been and remain by large as the most important funder of research in hematology in Brazil. CONCLUSION: We suggest that continuous monitoring of the temporal trends of some of the data compiled in our report could potentially contribute to a clearer picture of the development of hematology research in Brazil.

The Role of Partial Enteral Nutrition for Induction of Remission in Crohn's Disease: A Systematic Review of Controlled Trials.

Exclusive enteral nutrition (EEN) is recommended as a first-line therapy to induce remission of Crohn's disease (CD) and is considered as effective as corticosteroid treatment. However, the dietary restriction causes lack of adherence and poor tolerance to the therapy. Partial enteral nutrition (PEN), which allows for the ingestion of some food, could be a better tolerated alternative, but it is unknown whether it is as effective at inducing CD remission as EEN. The aim of this systematic review is to analyze the available evidence on PEN as a remission induction therapy in CD. A literature search was conducted using the MEDLINE (via PUBMED) and Cochrane Library databases following the preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines. Clinical trials in pediatric and adult patients were included. The risk of bias was assessed following the Cochrane Collaboration methodology. The selected studies showed variable but high response rates to PEN and EEN. Limitations regarding the wide heterogeneity between the studies included in this review should be considered. Although more studies are needed, according to our results, PEN combined with a highly restrictive diet seems to be as effective as EEN in inducing remission of CD.

[Result's Evaluation of the educational project Alcohol: conciencia con ciencia of Programa ARGOS-Region de Murcia of alcohol consumption prevention for First Secondary School students.] / Evaluación de resultados del proyecto educativo Alcohol: Conciencia con ciencia del Programa ARGOS-Región de Murcia de prevención del consumo de alcohol en alumnado de 1º de Educación Secundaria Obligatoria.

OBJECTIVE: Alcohol: Conciencia con ciencia is an educational-community universal prevention project for 12-year-old students (1st of ESO) which consists of three sessions and it is being implemented every school year since 2012. The objective was to evaluate its effect on alcohol consumption, attitudes and knowledge in the subsequent courses (2nd and 3rd of ESO), in order to know its durability. METHODS: It is a cross-sectional observational study in different phases (applied in October and April), quasi-experimental with a comparison group. In the 2017/2018 academic year, all 2nd (n=2,892) and 3rd of ESO (n=2,601) students completed a questionnaire based on knowledge, opinions and consumption patterns in selected educational centers (18 centers in 13 municipalities). Statistical analysis: chi-square tests of contingency and difference of differences. RESULTS: The number of students who started drinking is less in the intervention group during the subsequent school year, with differences between groups (31.5% vs. 36.6% in October, and 35.9% vs. 43.4% in April) (October p=0.037, April p=0.006) and difference in negative differences in favour of the intervention (-2.6%), more pronounced in girls (-8.1%). Although the study includes alcohol, the greatest perception of risk extends to tobacco and cannabis. The effect on knowledge maintained the following year, being the differences statistically significant. The group pressure recognized by those who suffer it was significantly higher during 2nd of ESO in the comparison group (October p=0.002, April p=0.015), being its durability longer in girls. CONCLUSIONS: The intervention stops the beginning of consumption, drunkenness and every-week consumption the hole next school year (2nd ESO) after intervention, but in 3rd of ESO the effect of the intervention disappears, being therefore necessary to reinforce it with the implementation of the project Drogas: ALTACAN in 2nd of ESO.

OBJETIVO: Alcohol: Conciencia con ciencia es un proyecto educativo-comunitario de prevención universal para alumnado de 12 años (1º ESO) que consta de tres sesiones y se desarrolla desde 2012 cada curso escolar. El objetivo de este trabajo fue evaluar su efecto en el consumo de alcohol, actitudes y conocimientos en cursos posteriores (segundo y tercero), para conocer su durabilidad. METODOS: Estudio observacional transversal en distintas fases (octubre/abril), cuasiexperimental con grupo comparación. Se realizó en centros educativos seleccionados (18 centros, 13 municipios) el curso 2017/2018, completando todo el alumnado de 2º (2.892) y 3º ESO (2.601) un cuestionario de conocimientos, opiniones y consumos. Análisis estadístico: pruebas chi-cuadrado de contingencia y diferencia de las diferencias. RESULTADOS: Fue menor el alumnado que inició el consumo en el grupo intervención durante el curso escolar posterior, con diferencias entre grupos (31,5% frente a 36,6% en octubre y 35,9% frente al 43,4% en abril) (octubre p=0,037, abril p=0,006) y diferencia de las diferencias negativa a favor de la intervención (-2,6%), más acusada en chicas (-8,1%). Aunque trabajó el alcohol, se extendió esta mayor percepción de riesgo al tabaco y el cánnabis. El efecto en conocimientos se mantuvo el siguiente curso, con diferencias estadísticamente significativas. La presión de grupo reconocida por el que la sufrió, fue significativamente mayor durante 2º ESO en grupo comparación (octubre p=0,002, abril p=0,015), más duradera en chicas. CONCLUSIONES: La implementación de este proyecto frena el inicio del consumo de alcohol, borracheras y consumo todas las semanas, durante todo el siguiente curso escolar (2º ESO) a la intervención, en 3º ESO el efecto de la intervención desaparece siendo necesario reforzar con Drogas: ALTACAN en 2º.

Evaluación de resultados del proyecto educativo “Alcohol: Conciencia con ciencia del Programa ARGOS-Región de Murcia de prevención del consumo de alcohol en alumnado de 1º de Educación Secundaria Obligatoria / Result’s Evaluation of the educational project Alcohol: conciencia con ciencia of Programa ARGOS-Region de Murcia of alcohol consumption prevention for First Secondary School students

Fundamentos: Alcohol: Conciencia con ciencia es un proyecto educativo-comunitario de prevención universal para alumnado de 12 años (1º ESO) que consta de tres sesiones y se desarrolla desde 2012 cada curso escolar. El objetivo de este trabajo fue evaluar su efecto en el consumo de alcohol, actitudes y conocimientos en cursos posteriores (segundo y tercero), para conocer su durabilidad. Métodos: Estudio observacional transversal en distintas fases (octubre/abril), cuasiexperimental con grupo comparación. Se realizó en centros educativos seleccionados (18 centros, 13 municipios) el curso 2017/2018, completando todo el alumnado de 2º (2.892) y 3º ESO (2.601) un cuestionario de conocimientos, opiniones y consumos. Análisis estadístico: pruebas chi-cuadrado de contingencia y diferencia de las diferencias. Resultados: Fue menor el alumnado que inició el consumo en el grupo intervención durante el curso escolar posterior, con diferencias entre grupos (31,5% frente a 36,6% en octubre y 35,9% frente al 43,4% en abril) (octubre p=0,037, abril p=0,006) y diferencia de las diferencias negativa a favor de la intervención (-2,6%), más acusada en chicas (-8,1%). Aunque trabajó el alcohol, se extendió esta mayor percepción de riesgo al tabaco y el cánnabis. El efecto en conocimientos se mantuvo el siguiente curso, con diferencias estadísticamente significativas. La presión de grupo reconocida por el que la sufrió, fue significativamente mayor durante 2º ESO en grupo comparación (octubre p=0,002, abril p=0,015), más duradera en chicas. Conclusiones: La implementación de este proyecto frena el inicio del consumo de alcohol, borracheras y consumo todas las semanas, durante todo el siguiente curso escolar (2º ESO) a la intervención, en 3º ESO el efecto de la intervención desaparece siendo necesario reforzar con Drogas: ALTACAN en 2º.(AU)

Background: Alcohol: Conciencia con ciencia is an educational-community universal prevention project for 12-year-old students (1st of ESO) which consists of three sessions and it is being implemented every school year since 2012. The objective was to evaluate its effect on alcohol consumption, attitudes and knowledge in the subsequent courses (2nd and 3rd of ESO), in order to know its durability. Methods: It is a cross-sectional observational study in different phases (applied in October and April), quasi-experimental with a comparison group. In the 2017/2018 academic year, all 2nd (n=2,892) and 3rd of ESO (n=2,601) students completed a questionnaire based on knowledge, opinions and consumption patterns in selected educational centers (18 centers in 13 municipalities). Statistical analysis: chi-square tests of contingency and difference of differences. Results: The number of students who started drinking is less in the intervention group during the subsequent school year, with differences between groups (31.5% vs. 36.6% in October, and 35.9% vs. 43.4% in April) (October p=0.037, April p=0.006) and difference in negative differences in favour of the intervention (-2.6%), more pronounced in girls (-8.1%). Although the study includes alcohol, the greatest perception of risk extends to tobacco and cannabis. The effect on knowledge maintained the following year, being the differences statistically significant. The group pressure recognized by those who suffer it was significantly higher during 2nd of ESO in the comparison group (October p=0.002, April p=0.015), being its durability longer in girls. Conclusions: The intervention stops the beginning of consumption, drunkenness and every-week consumption the hole next school year (2nd ESO) after intervention, but in 3rd of ESO the effect of the intervention disappears, being therefore necessary to reinforce it with the implementation of the project Drogas: ALTACAN in 2nd of ESO(AU)

Cesación tabáquica en la salud cardiovascular / Smoking cessation in cardiovascular health

Resumen: La Organización Mundial de la Salud ha determinado que las enfermedades no transmisibles (ENT) constituyen uno de los mayores desafíos del presente siglo, ya que representan el 71% de las muertes que se registran en el mundo. El tabaquismo se considera uno de los principales factores de riesgo modificables que afecta a las ENT. Existe amplia evidencia que relaciona el tabaco con las enfermedades cardiovasculares, en particular con la cardiopatía isquémica. Las Guías de Prevención Cardiovascular de la Sociedad Europea de Cardiología del año 2016 establecen como recomendación clase I, nivel de evidencia A, el dejar de fumar. El efecto de la nicotina genera una fuerte adicción que desencadena un síndrome de abstinencia al intentar el abandono del consumo de tabaco. Por lo tanto, resulta necesario estar familiarizado con las estrategias para el tratamiento de la adicción al tabaco, que comprenden: intervención mínima, recursos cognitivo-conductuales y tratamiento farmacológico como terapia de sustitución nicotínica, bupropión y vareniclina. Hasta el momento no se cuenta con la suficiente evidencia científica para recomendar los dispositivos electrónicos.

Summary: The World Health Organization has determined that Non- communicable Diseases are one of the greatest challenges of this century as they represent 71% of the deaths that occur in the world. Smoking is considered one of the main modifiable risk factors that affect Non-communicable Diseases. There is ample evidence linking tobacco with cardiovascular diseases, particularly with ischemic heart disease. The guidelines for Cardiovascular Prevention of the European Society of Cardiology of 2016, establish as recommendation class I, level of evidence A, the cessation of smoking. The effect of nicotine generates a strong addiction that triggers an abstinence syndrome when trying to quit smoking. Therefore, it is necessary to be familiar with the strategies for the treatment of tobacco addiction that include: minimal intervention, cognitive-behavioral resources and pharmacological treatment such as nicotinic substitution therapy, bupropion and varenicline. So far, there is not enough scientific evidence to recommend electronic devices.

V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.

The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not fully characterized, such as the mutation p.Val232Asp (c.695T > A). The aim of this study was to describe CF patients with the V232D mutation. We identify CF children with the V232D mutation detected by NBS and compare them with CF adults with this mutation whose diagnosis was prompted by clinical symptoms in the same period. We studied clinical, biochemical, spirometric, and prognostic features in both populations. NBS program tested 276,523 children during a period of 14 years (2003-2017) and identified 54 cases of CF. Six children (11%) had the V232D mutation. Over the same period, 5 adults (age 37.6 ±â€Š16.29 years old) with symptoms of CF and this mutation were also diagnosed. Follow-up duration was mean 10.1 years for adults and mean 6.5 years for children. In the adult group, lung function was impaired at diagnosis in all patients (Forced Expiratory Volume1-FEV1-67.12% ±â€Š13.09) and worsened in children tested during evolution (FEV1first: 113%; FEV1last: 64%). Pancreatic insufficiency was present in adult group, with recurrent pancreatitis in 1 present. Although with less clinical expression in children, V232D is associated with pulmonary and pancreatic involvement during adulthood and CF cannot be considered mild. This mutation is present in 11% of all patients diagnosed with CF in our region. Its inclusion in some NBS programs should be taken into account in order to improve the prognosis of affected children.

Characterization of Carotid Smooth Muscle Cells during Phenotypic Transition.

Vascular smooth muscle cells (VSMCs) are central players in carotid atherosclerosis plaque development. Although the precise mechanisms involved in plaque destabilization are not completely understood, it is known that VSMC proliferation and migration participate in plaque stabilization. In this study, we analyzed expression patterns of genes involved in carotid atherosclerosis development (e.g., transcription factors of regulation of SMC genes) of VSMCs located inside or outside the plaque lesion that may give clues about changes in phenotypic plasticity during atherosclerosis. VSMCs were isolated from 39 carotid plaques extracted from symptomatic and asymptomatic patients by endarterectomy. Specific biomarker expression, related with VSMC phenotype, was analyzed by qPCR, western immunoblot, and confocal microscopy. MYH11, CNN1, SRF, MKL2, and CALD1 were significantly underexpressed in VSMCs from plaques compared with VSMCs from a macroscopically intact (MIT) region, while SPP1, KLF4, MAPLC3B, CD68, and LGALS3 were found significantly upregulated in plaque VSMCs versus MIT VSMCs. The gene expression pattern of arterial VSMCs from a healthy donor treated with 7-ketocholesterol showed high similarity with the expression pattern of carotid plaque VSMCs. Our results indicate that VSMCs isolated from plaque show a typical SMC dedifferentiated phenotype with macrophage-like features compared with VSMCs isolated from a MIT region of the carotid artery. Additionally, MYH11, KLF5, and SPP1 expression patterns were found to be associated with symptomatology of human carotid atherosclerosis.

[Impact of tobacco control policy on teenager population in Uruguay]. / Impacto de la política de control de tabaco en población adolescente en Uruguay.

OBJECTIVE:: To analyze the evolution of the prevalence of tobacco use, comparing data obtained from the Global Youth Tobacco Survey in 2007 and 2014 editions. MATERIALS AND METHODS:: Data from the World Youth Tobacco Survey 2007 and 2014 were compared. Tobacco control measures implemented in the period under review were also analyzed. RESULTS:: Data shows a decrease in 30-day cigarette consumption in population aged 13 to 15 years: from 20.2% in 2007 to 8.2% in 2014. No significant differences were found between the sexes. Susceptibility to become a smoker in the next year decreased from 25.8% in 2007 to 16.6% in 2014. CONCLUSIONS:: The implementation, almost simultaneously, of measures included in WHO Framework Convention for Tobacco Control, is an effective strategy to achieve the objectives of reducing the prevalence of tobacco use.

The mapping competences of the nurse Case/Care Manager in the context of Intensive Care.

BACKGROUND AND AIMS: Since the recent introduction of the Case/Care Manager's professional figure, it is quite difficult to identify properly his/her own particular features, which could be mainly be found revising mainly in American studies. Therefore, the present study intended to identify the Case/Care Manager's skills and professional profile in an Intensive Care Unit experience, taking into consideration the staff's activities, perception and expectations towards the Case/Care Manager. In particular, it has been compared the experience of an Intensive Care Units where the Case/Care Manager's profile is operational to a different Unit where a Case/Care Manager is not yet in force. METHOD: a Levati's model was used to map the Case/Care Manager's skills, involving each unit whole working staff, executives and caregivers through semi-structured interviews. It has been taken into consideration the Anaesthesia Unit and Emergency Unit of Cesena's healthcare organisation (AUSL of Romagna) and a Cardiology Intensive Care Unit of Piacenza's healthcare organisation, where the Case/Care Manager's profile has not been experimented yet. Firstly, it a data collection in each healthcare organization has been organised. Subsequently, semi-structured interviews to doctors, unit nurses, caregivers, nurses' coordinators and medical staff have been used to compare each healthcare system. The interviewees' described their expectations in relation to the Case/Care Manager working in a critical area. Then, every data collected during interviews has been organised to map a Case/Care Manager's essential professional profile to work in a critical area together with medical staff. RESULTS: Piacenza's O.U. critical area experience reported a major demand for patients' and patient's families' assistance. On the other hand, the very same aspects seem to have been better achieved in Cesena's O.U., where a Case/Care Manager's recent introduction has actually helped to overcome the void in organising systems. CONCLUSIONS: a Case/Care Manager's profile has been drafted on the basis of the comparative analysis conducted. It has been noted how the Case/Care Manager's professional profile can really improve relationships and communications between medical staff and patients, promoting a major unity among the working team. According to the present research, the Case/Care Manager's profile has been proved helpful in positively influencing the team activity and to elicit major satisfaction both in patients and their family.

Complications after cochlear implantation in adult patients. 10-Year retrospective analysis of a tertiary academic centre.

OBJECTIVE: Cochlear implants (CI) are electronic devices that enable the auditory rehabilitation and the management of individuals with severe to profound bilateral hearing loss, and nowadays, advanced age is not considered a contraindication for cochlear implantation and several studies have shown that older adults do benefit from CI, with improvements in hearing abilities and quality of life. METHODS: Retrospective analysis of patients older than 18 years who underwent cochlear implant surgery in a tertiary academic centre. RESULTS: 57 patients met the inclusion criteria: 25 (43.9%) male and 32 (56.1%) female. Total percentage of minor complication was 24.6% and major complication was 17.5%. The most common minor complication in our series was vestibular disorder, and the most common major complication was device failure. No correlation was found among age, previous meningitis, anatomical variables or comorbidities with the appearance of complications. CONCLUSION: Cochlear implantation is a safe surgical technique for rehabilitation of severe to profound sensorineural hearing loss. According to our results, neither the age over 65 years nor the presence of comorbidities does have a direct impact over the complication rates in our patients.