Sun exposure practices, attitudes and knowledge among students and teachers at a University School of Health Sciences in Ecuador.

Skin cancer incidence is increasing worldwide. Late adolescence and young adulthood are fundamental stages of life to acquire good sun exposure practices, regarding both personal involvement in skin cancer prevention and being a role model for others, especially in a health education environment. This descriptive cross-sectional study is based on the validated CHACES questionnaire to study sun exposure and photoprotection behavior among students and teachers at the School of Health Sciences in the National University of Chimborazo, Riobamba (Ecuador). University members (814 students (89.8 %) and 93 teachers (10.2 %)) were studied, with a predominance of females and light-skin phototypes in both groups. Similar results were obtained regarding sun exposure, with higher recreative exposure in the teachers' group and higher occupational exposure in students. However, students significantly showed lower avoiding midday sun (41.9 % vs 60.9 %), and lower use of sunglasses (10.1 % vs. 41.6 %). Attitudes towards the sun and photoprotection knowledge issues were also equivalent between students and teachers (6.1/10 vs 6.2/10). Students' sunburn rate last year reaches 88.4 % and 52.7 % in teachers (p < 0.001). Using a multivariable logistic regression model, we identified risk factors associated with a greater risk of sunburn in our population. This study highlights areas to be improved regarding knowledge, attitudes and, especially, practices of photoprotection, among students and teachers at the University of Chimborazo. These results point out that awareness-raising campaigns should be implemented to reduce sunburns, morbidity and mortality of skin cancer in this environment.

Helicobacter pylori Chronic Infection Selects for Effective Colonizers of Metaplastic Glands.

Chronic gastric infection with Helicobacter pylori can lead to progressive tissue changes that culminate in cancer, but how H. pylori adapts to the changing tissue environment during disease development is not fully understood. In a transgenic mouse gastric metaplasia model, we found that strains from unrelated individuals differed in their ability to infect the stomach, to colonize metaplastic glands, and to alter the expression of the metaplasia-associated protein TFF3. H. pylori isolates from different stages of disease from a single individual had differential ability to colonize healthy and metaplastic gastric glands. Exposure to the metaplastic environment selected for high gastric colonization by one of these strains. Complete genome sequencing revealed a unique alteration in the frequency of a variant allele of the putative adhesin sabB, arising from a recombination event with the related sialic acid binding adhesin (SabA) gene. Mutation of sabB in multiple H. pylori strain backgrounds strongly reduced adherence to both normal and metaplastic gastric tissue, and highly attenuated stomach colonization in mice. Thus, the changing gastric environment during disease development promotes bacterial adhesin gene variation associated with enhanced gastric colonization. IMPORTANCE Chronic infection with Helicobacter pylori is the primary risk factor for developing stomach cancer. As disease progresses H. pylori must adapt to a changing host tissue environment that includes induction of new cell fates in the cells that line the stomach. We tested representative H. pylori isolates collected from the same patient during early and later stages of disease in a mouse model where we can rapidly induce disease-associated tissue changes. Only the later-stage H. pylori strains could robustly colonize the diseased stomach environment. We also found that the ability to colonize the diseased stomach was associated with genetic variation in a putative cell surface adhesin gene called sabB. Additional experiments revealed that SabB promotes binding to stomach tissue and is critical for stomach colonization by the late-stage strains. Thus, H. pylori diversifies its genome during disease progression and these genomic changes highlight critical factors for bacterial persistence.

Ensayo clínico sobre el efecto de la terapia Vojta en personas con esclerosis multiple. Un estudio piloto / Clinical trial on the effect of Vojta therapy in people with multiple sclerosis. A pilot study

Introducción: La dificultad en la marcha, equilibrio y la presencia de la fatiga son las principales causas que generan mayor discapacidad en los pacientes con esclerosis múltiple (EM), siendo necesario un modelo de tratamiento orientado a su mejoría. Objetivo Este estudio trata de investigar los efectos de la terapia Vojta sobre la marcha, equilibrio y fatiga en personas con EM para determinar si es una técnica de elección como tratamiento. Material y métodos Estudio de tipo experimental, prospectivo y controlado. La muestra utilizada tras los criterios de inclusión y exclusión es de 14 usuarios (n = 14), pertenecientes a la asociación de esclerosis múltiple de Extremadura (EMEX). El grupo control recibe intervención de fisioterapia dos veces por semana y el grupo intervención además de la fisioterapia pactada, recibe dos sesiones de terapia Vojta por semana durante seis semanas y se valoran los resultados al termino de estas semanas y al mes de no intervención. Las variables estudiadas son marcha, equilibrio y fatiga. Resultados Al comparar la intervención de fisioterapia sobre fisioterapia más el uso de terapia Vojta, los resultados son estadísticamente significativos con mejoras tanto en la marcha (p = 0,018) como en equilibrio (p = 0,026), demostrando cómo el uso de la terapia Vojta mejora la marcha y el equilibrio en la muestra de representación. Tras el mes de no intervención con terapia Vojta las mejorías en el grupo intervención se mantienen de forma estadísticamente significativa (p = 0,05 en la marcha y p = 0,021 en el equilibrio). Conclusión En la muestra estudiada, el uso de la terapia Vojta, consigue una mejora tanto en la marcha como en el equilibrio de los pacientes con EM. Es necesario seguir investigando qué técnicas son las más eficaces dentro del tratamiento de la EM, con modelos de ensayo clínico aleatorizados y controlados cuyo tamaño de muestra sea más numeroso (AU)

Introduction: Difficulty in walking, balance and the presence of fatigue are the main causes that generate greater disability in patients with multiple sclerosis (MS), requiring a treatment model aimed at improvement. Objective This study investigated the effects of Vojta therapy on walking, balance and fatigue in people with MS and to determine if it is a technique of choice in this type of users. Material and methods Experimental study, in the form of a prospective and controlled clinical study. The sample used after the inclusion and exclusion criteria is 14 users (n = 14), selected from the population currently available for treatment by the Multiple Sclerosis Association of Extremadura (EMEX). The control group received physiotherapy twice a week and the intervention group, in addition to the agreed physiotherapy, received 2 sessions of Vojta therapy per week for 6 weeks and the results was evaluated at the end of these weeks and at the end of the month of no intervention. The variables studied were gait, balance and fatigue. Results When comparing the physiotherapy intervention on physiotherapy plus the use of Vojta therapy, the results are statistically significant with improvements in both gait (p = 0.018) and balance (p = 0.026), establishing how the use of Vojta therapy improves gait and balance in the representation sample. After the month of non-intervention with Vojta therapy, the improvements in the intervention group remain statistically significant (p = 0.05 in gait and p = 0.021 in balance). Conclusión In the sample studied, the use of Vojta therapy achieves an improvement in both walking speed and balance in patients with MS. Further research is necessary on which techniques are most effective within the treatment of balance, gait and fatigue in MS, with randomised clinical trial models and more numerous representative samples (AU)

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl born from non-consanguineous parents. Both parents were asymptomatic and denied family history of ocular disease. Clinical history and ophthalmologic examination of the proband were consistent with Stargardt disease. Whispered voice testing disclosed moderate hearing loss. Next-generation sequencing and Sanger sequencing identified pathogenic variants in ABCA4 (c.4926C>G and c.5044_5058del) and USH2A (c.2276G>T). All variants were present homozygously in DNA from the proband and heterozygously in DNA from the father. No variants were found in maternal DNA. Further analysis of single nucleotide polymorphisms confirmed paternal UPD of chromosome 1. This is the first known patient with confirmed UPD for two recessively mutated IRD genes. Our study expands on the genetic heterogeneity of IRDs and highlights the importance of UPD as a mechanism of autosomal recessive disease in non-consanguineous parents. Moreover, a long-term follow-up is essential for the identification of retinal features that may develop as a result of USH2A-related conditions.

Sun Protection Policies and Practices in Preschool and Elementary Schools in Andalusia (Spain).

Sun exposure in childhood is a major risk factor for the development of skin cancer as an adult. School children spend much of their time outdoors exposed to ultraviolet radiation during recreational and sports activities. Skin cancer incidence tripled from 1978 to 2002 in Spain. Andalusia, the largest and sunniest region of Spain, lacks data on the sun protection measures taken in schools. To address this deficit, the aim of this study was to determine photoprotection practices and policies in preschools and primary schools in Andalusia. This descriptive study involved the administration of an online questionnaire completed by principals regarding school sun protection policies and practices. Preschool and primary schools were selected from the database of the Ministry of Education of the Andalusian Regional Government. Information of interest included photoprotection policies, students' sun protection knowledge, sun protection measures, relevant curricular content, and availability of shade at the school. A total of 2425 schools were contacted. Of them, 420 schools responded (17.31%), with the highest number of responses received from Malaga (23.8%) and Seville (19.5%) provinces. Of those responding, 67.1% of the schools did not have written sun protection policies. The photoprotection measures reported included mandatory use of a cap or hat (3.3%), use of sunglasses in outdoor areas (30%), and active encouragement of students to use sunscreen (50.7%). Roughly 24% of schools evaluated their shaded areas, with 52.9% reporting insufficient protection for most activities. The study results showed that photoprotection policies and practices in Andalusian schools were mostly insufficient. Given that skin cancer incidence has increased considerably over the last decade, it is important to concentrate on improving primary prevention practices. Additionally, photoprotection programs in schools have been shown to improve children's knowledge, attitudes, and habits regarding photoprotection. Thus, it is essential for Andalusian preschools and primary schools to develop policies and strategies to help reduce children's sun exposure while at school.

Photoprotection habits, attitudes and knowledge among school communities in the Costa del sol (Spain).

BACKGROUND: Scholar photoprotection campaigns are among the most effective strategies for preventing skin cancer. Analysis of the target population constitutes a valuable starting point for the implementation of primary prevention strategies. Our aim is to study photoprotection habits, attitudes and knowledge among a Spanish school community. METHODS: Descriptive cross-sectional study targeting schoolchildren, parents and teachers at 20 schools in the area of the Costa del Sol Health Agency in southern Spain. Two population-specific, validated questionnaires were used: the CHRESI (for children aged 0-10 years) and CHACES Questionnaire(for adults and adolescents aged > 11 years). We collected demographic data, skin colour, skin phototype, sunburn episodes, sun exposure and photoprotection practices, attitudes and knowledge. RESULTS: 1728 questionnaires were analyzed (22% parents, 14.5% teachers, 44.8% adolescents and 18.6% children). The average ages were 8 years (children), 16 years (adolescents), 39 years (teachers) and 42 years (parents). Globally, the predominant features were: male sex (52%), Spanish nationality (92%) and phototypes II-III (61%). Children, followed by adolescents, reported the highest exposure to the sun, both in frequency and in duration. Adolescents had the higher rate of sunburn (75%), followed by parents/teachers (54.1%) and children (44.1%). Children and their parents were the most likely to adopt photoprotection measures, while adolescents presented more risky attitudes. Knowledge regarding photoprotection was acceptable (6.9/10). CONCLUSIONS: This study highlights the need to improve photoprotection knowledge, habits and attitudes among our target population. Scholars, parents and teachers in our area should be addressed in campaigns to promote healthy sun exposure habits, thus reducing skin cancer-related morbidity and mortality in this region.

Biopsia líquida y cáncer de próstata. Evidencia actual aplicada a la clínica / Liquid biopsy and prostate cancer. Current evidence applied to clinical practice

CONTEXTO: A pesar de ser una demostrada fuente de biomarcadores, la biopsia líquida aún no ha conseguido dar el paso a la práctica clínica habitual en pacientes con cáncer de próstata. Pocos biomarcadores se someten a una adecuada validación, prospectiva e independiente, de su valor predictivo o pronóstico y ello resulta en una falta de resultados con capacidad de traslación real a la clínica de los diferentes test disponibles. OBJETIVO: Realizar una síntesis, clínicamente pragmática, de la evidencia científica actual sobre la biopsia líquida sanguínea en cáncer de próstata. Adquisición de la evidencia: Revisión no sistemática de la literatura, acotando la búsqueda a trabajos sobre biopsia líquida de origen sanguíneo en cáncer de próstata. Se seleccionaron preferentemente aquellos trabajos en los cuales se estudian end-points clínicos aplicados al cáncer de próstata. Síntesis de la evidencia: Las formas de biopsia líquida más avanzadas en términos clínicos son las células tumorales circulantes (CTC) y el ADN tumoral circulante (ADNtc). Tanto CTC como ADNtc han demostrado su valor pronóstico en enfermedad metastásica. La determinación de ARV7 constituye el primer biomarcador predictivo de la enfermedad. Su traslación a la práctica clínica habitual pasa por la estandarización metodológica y la adecuada validación clínica de las distintas formas de detección disponibles. La detección de CTC en estadios iniciales de la enfermedad depende aún de la optimización de los métodos de detección y del desarrollo de la caracterización biológica de estas células. La información biológica aportada por CTC y ADNtc es distinta; por ello, el estudio de su adecuada conjunción es objeto de la investigación más actual. CONCLUSIONES: La ausencia de protocolos y estándares metodológicos es el factor limitante para llegar a conclusiones de impacto clínico. Por ello, el consenso y la unificación de criterios constituyen el verdadero desafío a corto plazo para la biopsia líquida

CONTEXT: Despite being a validated source of biomarkers, liquid biopsy has not yet succeeded in becoming part of the standard clinical practice in prostate cancer PATIENTS: Few biomarkers undergo adequate validation, prospective and independent, of their predictive and/or prognostic value, which results in a lack of the different available tests in the clinical practice. OBJECTIVE: To carry out a pragmatic synthesis of current scientific evidence on liquid biopsy for prostate cancer PATIENTS: Evidence acquisition: Non-systematic literature review, narrowing the search to papers on liquid biopsy from blood samples in prostate cancer PATIENTS: We mainly selected works evaluating clinical endpoints in prostate cancer. Evidence synthesis: The most clinically advanced forms of liquid biopsy are circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). Both CTCs and ctDNA have demonstrated their prognostic value in metastatic disease. ARV7 determination is the first predictive biomarker of the disease. Its implementation into routine clinical practice requires methodological standardization and adequate clinical validation of the different available ways to detect it. The detection of CTCs in the early stages of the disease still depends on the optimization of the diagnostic methods and on the development of the biological characterization of these cells. The biological information provided by CTCs and ctDNA is different; therefore, the study of its adequate combination is the object of cutting-edge research. CONCLUSIONS: The absence of protocols and methodological standards is the limiting factor when aiming to reach conclusions that could have a potential impact on clinical practice. Therefore, the real short-term challenge for liquid biopsy is the establishment of consensus and common criterio

Liquid biopsy and prostate cancer. Current evidence applied to clinical practice. / Biopsia líquida y cáncer de próstata. Evidencia actual aplicada a la clínica.

CONTEXT: Despite being a validated source of biomarkers, liquid biopsy has not yet succeeded in becoming part of the standard clinical practice in prostate cancer patients. Few biomarkers undergo adequate validation, prospective and independent, of their predictive and/or prognostic value, which results in a lack of the different available tests in the clinical practice. OBJECTIVE: To carry out a pragmatic synthesis of current scientific evidence on liquid biopsy for prostate cancer patients. EVIDENCE ACQUISITION: Non-systematic literature review, narrowing the search to papers on liquid biopsy from blood samples in prostate cancer patients. We mainly selected works evaluating clinical endpoints in prostate cancer. EVIDENCE SYNTHESIS: The most clinically advanced forms of liquid biopsy are circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA). Both CTCs and ctDNA have demonstrated their prognostic value in metastatic disease. ARV7 determination is the first predictive biomarker of the disease. Its implementation into routine clinical practice requires methodological standardization and adequate clinical validation of the different available ways to detect it. The detection of CTCs in the early stages of the disease still depends on the optimization of the diagnostic methods and on the development of the biological characterization of these cells. The biological information provided by CTCs and ctDNA is different; therefore, the study of its adequate combination is the object of cutting-edge research. CONCLUSIONS: The absence of protocols and methodological standards is the limiting factor when aiming to reach conclusions that could have a potential impact on clinical practice. Therefore, the real short-term challenge for liquid biopsy is the establishment of consensus and common criteria.

Creation Of The «Soludable¼ Sun Protection Accreditation Program For Schools. / Creación del distintivo Soludable: un modelo de certificación en fotoprotección para centros escolares.

INTRODUCTION: Sun exposure during childhood is the main risk factor for skin cancer in later life. School-based sun protection policies and practices have proven to be the most effective and cost-effective strategies for preventing skin cancer. OBJECTIVE: To develop a sun protection accreditation program known as «Soludable¼ (a play on the Spanish words sol [sun] and saludable [healthy]) to objectively identify schools that actively promote sun protection behaviors among students. METHODS: The consensus method used was a 2-round Delphi technique with input from a panel of experts. We then calculated the median scores for the importance and feasibility of each of the recommendations proposed and the level of complexity assigned to each recommendation by counting the percentage of experts who chose each difficulty category. RESULTS: The resulting accreditation model consists of 14 recommendations with corresponding evaluation criteria divided into 7 domains: 1) organizational leadership (5 recommendations), 2) effective communication (2 recommendations), 3) structural elements (2 recommendations), 4) training of professionals (1 recommendation), 5) school curriculum (1 recommendation), 6) behavioral models (2 recommendations), and 7) student habits (1 recommendation). A high level of agreement among experts was observed for all recommendations, in terms of both their perceived importance and feasibility and their categorization by levels of complexity. CONCLUSIONS: This is the first sun protection accreditation program developed for Spanish schools. Studies are needed to evaluate how this program is received and how it affects students' sun protection behaviors.

The role of miRNAs as biomarkers in prostate cancer.

There is an urged need of non-invasive biomarkers for the implementation of precision medicine. These biomarkers are required to these days for improving prostate cancer (PCa) screening, treatment or stratification in current clinical strategies. There are several commercial kits (Oncotype DX genomic prostate score®, Prolaris®, among others) that use genomic changes, rearrangement or even non-coding RNA events. However, none of them are currently used in the routine clinical practice. Many recent studies indicate that miRNAs are relevant molecules (small single-stranded non-coding RNAs that regulate gene expression of more than 30% of human genes) to be implement non-invasive biomarkers. However, contrasting to others tumors, such as breast cancer where miR-21 seems to be consistently upregulated; PCa data are controversial. Here we reported an extended revision about the role of miRNAs in PCa including data of AR signaling, cell cycle, EMT process, CSCs regulation and even the role of miRNAs as PCa diagnostic, prognostic and predictive tool. It is known that current biomedical research uses big-data analysis like Next Generation Sequencing (NGS) analysis. We also conducted an extensive online search, including the main platforms and kits for miRNAs massive analysis (like MiSeq, Nextseq 550, or Ion S5™ systems) indicating their pros, cons and including pre-analytical and analytical issues of miRNA studies.

Actualización en fórmulas infantiles basadas en leche de vaca / Update on infant formulas based on cow's milk

La leche humana es el alimento recomendado para los lactantes en los primeros 6 meses de vida de manera exclusiva y hasta los 2 años, junto con la alimentación complementaria. En los casos en que ésta no sea posible, las fórmulas infantiles ofrecen una alternativa para la alimentación de los lactantes. Dichas fórmulas toman como modelo la leche materna, por lo que han ido incorporando cambios en su composición, como una disminución del contenido proteico o la adición de componentes bioactivos, como oligosacáridos o membranas de glóbulos lipídicos de la leche, que intentan disminuir las diferencias entre estas fórmulas y la leche humana

Human milk is the recommended food for infants, exclusively in the first six months of life and supplemented with other foods up to 2 years old. In cases where this is not possible, infant formulas offer an alternative for feeding infants. These formulas take human mother’s milk as a model, and have therefore undergone changes in their composition, including a reduction in protein content and the addition of bioactive components such as oligosaccharides or milk fat globule membrane, to try to reduce the differences between these formulas and human milk

Circulating Tumor Cells: Markers and Methodologies for Enrichment and Detection.

Cancer is a leading cause of disease worldwide; however, nowadays many points of its initiation processes are unknown. In this chapter, we are focusing on the role of liquid biopsies in cancer detection and progression. CTCs are one of the main components of liquid biopsies, they represent a subset of tumor cells that have acquired the ability to disseminate from the primary tumor and intravasate to the circulatory system. The greatest challenge in the detection of CTCs is their rarity in the blood. Human blood consists of white blood cells (5-10 × 106/mL), red blood cells (5-9 × 109/mL), and platelets (2.5-4 × 108/mL); very few CTCs will be present even in patients with known metastatic disease, with often less than one CTC per mL of blood. CTCs are found in frequencies on the order of 1-10 CTCs per mL of whole blood in patients with metastatic disease, and it is reduced in half for non-metastatic stages. Therefore, accurate methodologies for their capture and analysis are really important. The main aim of the present chapter is to describe different methodologies for CTCs capturing and analysis.

Integrated RNA-seq and DNase-seq analyses identify phenotype-specific BMP4 signaling in breast cancer.

BACKGROUND: Bone morphogenetic protein 4 (BMP4) plays an important role in cancer pathogenesis. In breast cancer, it reduces proliferation and increases migration in a cell line-dependent manner. To characterize the transcriptional mediators of these phenotypes, we performed RNA-seq and DNase-seq analyses after BMP4 treatment in MDA-MB-231 and T-47D breast cancer cells that respond to BMP4 with enhanced migration and decreased cell growth, respectively. RESULTS: The RNA-seq data revealed gene expression changes that were consistent with the in vitro phenotypes of the cell lines, particularly in MDA-MB-231, where migration-related processes were enriched. These results were confirmed when enrichment of BMP4-induced open chromatin regions was analyzed. Interestingly, the chromatin in transcription start sites of differentially expressed genes was already open in unstimulated cells, thus enabling rapid recruitment of transcription factors to the promoters as a response to stimulation. Further analysis and functional validation identified MBD2, CBFB, and HIF1A as downstream regulators of BMP4 signaling. Silencing of these transcription factors revealed that MBD2 was a consistent activator of target genes in both cell lines, CBFB an activator in cells with reduced proliferation phenotype, and HIF1A a repressor in cells with induced migration phenotype. CONCLUSIONS: Integrating RNA-seq and DNase-seq data showed that the phenotypic responses to BMP4 in breast cancer cell lines are reflected in transcriptomic and chromatin levels. We identified and experimentally validated downstream regulators of BMP4 signaling that relate to the different in vitro phenotypes and thus demonstrate that the downstream BMP4 response is regulated in a cell type-specific manner.

Brain functional changes in first-degree relatives of patients with bipolar disorder: evidence for default mode network dysfunction.

BACKGROUND: Relatively few studies have investigated whether relatives of patients with bipolar disorder show brain functional changes, and these have focused on activation changes. Failure of de-activation during cognitive task performance is also seen in the disorder and may have trait-like characteristics since it has been found in euthymia. METHOD: A total of 20 euthymic patients with bipolar disorder, 20 of their unaffected siblings and 40 healthy controls underwent functional magnetic resonance imaging during performance of the n-back working memory task. An analysis of variance (ANOVA) was fitted to individual whole-brain maps from each set of patient-relative-matched pair of controls. Clusters of significant difference among the groups were used as regions of interest to compare mean activations/de-activations between them. RESULTS: A single cluster of significant difference among the three groups was found in the whole-brain ANOVA. This was located in the medial prefrontal cortex, a region of task-related de-activation in the healthy controls. Both the patients and their siblings showed significantly reduced de-activation compared with the healthy controls in this region, but the failure was less marked in the relatives. CONCLUSIONS: Failure to de-activate the medial prefrontal cortex in both euthymic bipolar patients and their unaffected siblings adds to evidence for default mode network dysfunction in the disorder, and suggests that it may act as a trait marker.

Valoración nutricional de la dieta sin gluten. ¿Es la dieta sin gluten deficitaria en algún nutriente? / Nutritional assessment of gluten-free diet. Is gluten-free diet deficient in some nutrient?

INTRODUCCIÓN: Clásicamente, se ha presentado la dieta sin gluten como una dieta sana, pero existen artículos que defienden que puede presentar algunas deficiencias nutricionales. En el presente estudio se valoró si existía algún cambio en los aportes de calorías, principios inmediatos, proporción de ácidos grasos, vitaminas, minerales y fibra en los niños que eran diagnosticados de celiaquía, comparando la dieta con gluten previa al diagnóstico con la dieta al año del diagnóstico sin gluten. También se valoró el grado de repercusión clínico o analítico que podrían tener los déficits nutricionales. MATERIAL Y MÉTODOS: Estudio observacional, descriptivo y prospectivo en el cual se recogieron los datos de encuesta dietéticas, antropometría y analítica previas al diagnóstico de celiaquía siguiendo dieta con gluten y al año del diagnóstico, con dieta sin gluten de los pacientes diagnosticados de enfermedad celíaca. RESULTADOS: Treinta y siete pacientes reúnen criterios de estudio. Se encontró una disminución en la ingesta de ácidos grasos saturados, con un aumento de monoinsaturados, un aumento en la ingesta de fósforo en la dieta sin gluten y un ingesta deficitaria de vitamina D en ambas dietas. Clínicamente, al año de dieta sin gluten hay mejoría en el peso y la talla. Analíticamente, hay mejoría en las cifras de hemoglobina, ferritina, vitamina D y parathormona plasmáticos. CONCLUSIÓN: La dieta sin gluten presenta mínimas deficiencias, similares a las presentes en la dieta con gluten, con una mejoría en el perfil lipídico, aumentando la proporción de ácidos grasos monoinsaturados en detrimento de los ácidos grasos saturados

INTRODUCTION: The gluten-free diet has traditionally been accepted as a healthy diet, but there are articles advocating that it may have some nutritional deficiencies. The current study assesses whether there was any change in the contributions of calories, essential elements, proportion of fatty acids, vitamins, minerals and fiber in children who were diagnosed with celiac diseases, comparing the diet with gluten prior one year after diagnosis with the diet without gluten to the year of diagnosis. The level of clinical or analytical impact that nutritional deficits could have was also assessed. MATERIAL AND METHODS: A prospective,descriptive, observational study in which information was collected from a dietary survey, anthropometric and analytical data at pre-diagnosis of celiac disease and following a gluten diet and one year after celiac disease diagnosis, under gluten-free diet. RESULTS: A total of 37 patients meet the study criteria. A decrease in the intake of saturated fatty acids was found, with an increase of monounsaturated fatty acids and an increase in the intake of phosphorus in the diet without gluten. A deficient intake of vitamin D was found in both diets. Clinically, at year of gluten-free diet there was an improvement in weight and size. Analytically, there was an improvement in hemoglobin, ferritin, vitamin D, and parathyroid hormone in plasma. CONCLUSION: The gluten-free diet has minimal deficiencies, similar to those present in the diet with gluten, with an improvement in the lipid profile by increasing the proportion of monounsaturated fatty acids to the detriment of saturated fatty acids

[Nutritional assessment of gluten-free diet. Is gluten-free diet deficient in some nutrient?]. / Valoración nutricional de la dieta sin gluten. ¿Es la dieta sin gluten deficitaria en algún nutriente?

INTRODUCTION: The gluten-free diet has traditionally been accepted as a healthy diet, but there are articles advocating that it may have some nutritional deficiencies. The current study assesses whether there was any change in the contributions of calories, essential elements, proportion of fatty acids, vitamins, minerals and fiber in children who were diagnosed with celiac diseases, comparing the diet with gluten prior one year after diagnosis with the diet without gluten to the year of diagnosis. The level of clinical or analytical impact that nutritional deficits could have was also assessed. MATERIAL AND METHODS: A prospective,descriptive, observational study in which information was collected from a dietary survey, anthropometric and analytical data at pre-diagnosis of celiac disease and following a gluten diet and one year after celiac disease diagnosis, under gluten-free diet. RESULTS: A total of 37 patients meet the study criteria. A decrease in the intake of saturated fatty acids was found, with an increase of monounsaturated fatty acids and an increase in the intake of phosphorus in the diet without gluten. A deficient intake of vitamin D was found in both diets. Clinically, at year of gluten-free diet there was an improvement in weight and size. Analytically, there was an improvement in hemoglobin, ferritin, vitamin D, and parathyroid hormone in plasma. CONCLUSION: The gluten-free diet has minimal deficiencies, similar to those present in the diet with gluten, with an improvement in the lipid profile by increasing the proportion of monounsaturated fatty acids to the detriment of saturated fatty acids.

Hepatitis autoinmune, enfermedad celiaca y púrpura trombocitopénica idiopática en una niña de 4 años / Autoimmune hepatitis, celiac disease and idiopathic thrombocytopenic purpura in 4 year old girl

La hepatitis autoinmune y la enfermedad celiaca son dos entidades de base inmune con demostrada relación entre sí. La púrpura trombocitopénica idiopática, o autoinmune, es una entidad de base inmune en la que la existencia de unos anticuerpos IgG frente a la superficie de las plaquetas provoca plaquetopenia. A su vez, se han descrito casos de presentación de hepatitis autoinmune junto con púrpura trombocitopénica idiopática, así como de enfermedad celiaca junto con púrpura trombocitopénica idiopática. Presentamos el caso de una niña de 4 años que presenta un cuadro de anemia ferropénica y púrpura trombocitopénica idiopática, junto con enfermedad celiaca y hepatitis autoinmune (AU)

Autoimmune hepatitis and celiac disease are two immune-mediated conditions, with proven association with each other. Idiopathic thrombocytopenic purpura (ITP) is an autoimmune or immune-based entity in which the existence of IgG antibodies against platelet surface causes thrombocytopenia. The association between autoimmune hepatitis with idiopathic thrombocytopenic purpura and between celiac disease and idiopathic thrombocytopenic purpura has been previously described. We report the case of a 4 year old girl who presents with anemia and Idiopathic thrombocytopenic purpura, along with celiac disease and autoimmune hepatitis (AU)

Desalineaciones de los miembros inferiores en niños con síndrome de Down / Misalignment of the lower limbs in children with Down syndrome

Introducción El síndrome de Down es una cromosomopatía que suele asociar alteraciones del aparato locomotor. La hipotonía, la laxitud ligamentosa, la reducción de la fuerza y la presencia de extremidades cortas son las más características. El desarrollo de estas alteraciones podría contribuir a una mayor prevalencia de desalineaciones corporales en esta población y, por consiguiente, al desarrollo de más complicaciones ortopédicas. Objetivos Valorar la presencia de desalineaciones en los miembros inferiores en niños de un colectivo con síndrome de Down y, en caso de existir, evaluar si se pueden considerar patológicas. Material y método Estudio observacional, transversal y descriptivo de un grupo de 31 niños con síndrome de Down y edades entre los 3 y los 17 años, sometidos a una evaluación antropométrica para valorar la presencia de desalineaciones en sus miembros inferiores. Resultados En el plano anteroposterior (AP) sólo se observó genu valgo en 20 de los 31 (64,5%) de los sujetos estudiados. En el plano sagital 7 de 31 (22,6%) presentaban flexo de rodilla frente a un solo caso que presentaba genu recurvatum. En ningún caso las desalineaciones encontradas alcanzaron una graduación patológica. En cuanto al tobillo, 24 de 31 (96,8%) presentaban un valgo de tobillo. Tan solo 7 de 31 (22,6%) presentaban dismetría en descarga y solo 3 de 31 (9,7%) presentaban báscula pélvica. Conclusión No existen desalineaciones que podamos considerar significativas en nuestro grupo de estudio (AU)

Introduction Down syndrome is a chromosome condition usually associated to musculoskeletal disorders. Hypotonia, ligamentous laxity, reduction of muscular strength and the presence of short extremities are the most characteristic features. The existence of these alterations may contribute to greater prevalence of body misalignment in this population. Objectives To evaluate the presence of misalignment in the lower limbs in a group of children with Down syndrome and, if available, to assess whether the obtained misalignments are considered pathological. Material and method An observational, cross-sectional study was conducted of a group of 31 children aged 3 to 17 who underwent anthropometric evaluation to assess the presence of misalignments in their lower extremities. Results In the anteroposterior plane (AP) genu valgus was observed in only 20 of 31 (64.5%) of the subjects studied. In the sagittal plane, 7 of 31 (22.6%) had genu flexo versus a single case that had genu recurvatum. In no case, the misalignments reached a pathological degree. As for the ankle, 24 of 31 (96.8%) had an hallus valgus. Only 7 of 31 (22.6%) had dysmetria in discharge, and only 3 of 31 (9.7%) had pelvic tilt. Conclusion No significant misalignments that we consider in our study group existed (AU)

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.

Transmissible spongiform encephalopathies (TSEs) are a group of rare fatal neurodegenerative disorders. Creutzfeldt-Jakob disease (CJD) represents the most common form of TSE and can be classified into sporadic, genetic, iatrogenic and variant forms. Genetic cases are related to prion protein gene mutations but they only account for 10-20% of cases. Here we report an apparently sporadic CJD case with negative family history carrying a mutation at codon 178 of prion protein gene. This mutation is a de novo mutation as the parents of the case do not show it. Furthermore the presence of three different alleles (wild type 129M-178D and 129V-178D and mutated 129V-178N), confirmed by different methods, indicates that this de novo mutation is a post-zygotic mutation that produces somatic mosaicism. The proportion of mutated cells in peripheral blood cells and in brain tissue was similar and was estimated at approximately 97%, suggesting that the mutation occurred at an early stage of embryogenesis. Neuropathological examination disclosed spongiform change mainly involving the caudate and putamen, and the cerebral cortex, together with proteinase K-resistant PrP globular deposits in the cerebrum and cerebellum. PrP typing was characterized by a lower band of 21 kDa. This is the first case of mosaicism described in prion diseases and illustrates a potential etiology for apparently sporadic neurodegenerative diseases. In light of this case, genetic counseling for inherited and sporadic forms of transmissible encephalopathies should take into account this possibility for genetic screening procedures.