Concordance in Molecular Tumor Board Case Reviews in the ASCO TAPUR Study.

PURPOSE: With the advent of precision medicine, molecular tumor boards (MTBs) were established to interpret genomic results and guide decision making for targeted therapy in oncology patients. There are currently no universal guidelines for how MTBs should operate and thus variance can be seen depending on which MTB is reviewing the case. This study assesses the concordance of MTB recommendations when a participant case is reviewed by two different MTBs, establishes potential reasons for discordance, and advocates for the establishment of standard MTB operating guidelines. PATIENTS AND METHODS: Participants with advanced cancer, who had exhausted all standard treatment options were screened for the Targeted Agent and Profiling Utilization Registry (TAPUR) Study. Cases were submitted for MTB review if the treatment proposal was outside the protocol genomic matching rules, or if multiple treatment options were identified. Of the 306 cases submitted for review by the TAPUR MTB from 2016 to 2018, 107 were randomly selected for secondary review by a different MTB group. Recommendations from the original review were not disclosed. Concordance between MTB group recommendations was assessed. Concordance was defined as agreement between MTB reviews on the genomic alteration and study drug match proposed by the clinical site. Thematic qualitative analysis was conducted for the discordant cases to assess reasons for discordance. RESULTS: Complete or partial concordance was observed in 79% of cases (95% CI, 70 to 86; one-sided P = .25). Most discordant analyses were due to disagreements on the strength of evidence regarding efficacy of the proposed treatment (32%). CONCLUSION: When presented with identical participant cases, different MTB review groups make the same or similar treatment recommendations approximately 80% of the time.

Sistema de competencias laborales para tecnólogos de la salud licenciados en Optometría y Óptica / Job competency system for health technologists licensed in Optometry and Optics

Fundamento: la calidad de un servicio de salud parte del nivel de la competencia y desempeño de sus trabajadores en el cumplimiento de sus funciones laborales y sociales. Objetivo: elaborar un sistema de competencias laborales para tecnólogos de la salud licenciados en Optometría y Óptica. Métodos: se realizó una investigación de desarrollo tecnológico en el campo de la educación médica, durante enero 2021- enero 2022 en instituciones del nivel secundario del municipio Holguín. Se utilizaron métodos teóricos, empíricos y estadísticos que permitieron la triangulación metodológica de los resultados. Se tuvo en cuenta el criterio de especialistas para la valoración del sistema de competencias elaborado. Resultados: se identificaron insuficiencias para ejecutar procederes óptico-optométricos, limitada participación en actividades científico investigativas, baja categorización docente e investigativa, debilidades en la función profesor-tutor y escasa actividad de superación permanente. Se elaboró un sistema de competencias laborales para tecnólogos de la salud licenciados en Optometría y Óptica diseñadas en correspondencia con el ejercicio de sus funciones. Conclusiones: el diagnóstico realizado demostró la necesidad de un sistema de competencias laborales para contribuir al perfeccionamiento del desempeño laboral de estos profesionales, el cual fue valorado como factible, pertinente y útil de ser aplicado.

Background: the quality of a health service is based on the level of competence and performance of its workers in fulfilling their job and social functions. Objective: to develop a system of job skills for health technologists Bachelors in Optometry and Optics. Methods: a technological development investigation was carried out in the field of medical education, from January 2021 to January 2022 in secondary level institutions of the Holguín municipality. Theoretical, empirical and statistical methods were used that allowed the methodological contrast of the results. The criteria of specialists was taken into account for the assessment of the developed competency system. Results: insufficiencies were identified to carry out optical-optometric procedures, limited participation in scientific research activities, low teaching and research ranking, weaknesses in the teacher-tutor function and little permanent improvement activity. A system of job competencies was developed for health technologists with degrees in Optometry and Optics designed in accordance with the exercise of their duties. Conclusions: the diagnosis carried out demonstrated the need for a system of work competencies to contribute to the improvement of the work performance of these professionals, which was valued as feasible, relevant and useful to be applied.

The Targeted Agent and Profiling Utilization Registry Study: A pragmatic clinical trial.

The conceptual framework of pragmatism in clinical trials is explored using the American Society of Clinical Oncology's pragmatic, non-randomized, phase II, multi-center basket clinical trial, the Targeted Agent and Profiling Utilization Registry Study (NCT02693535) as a model. The Targeted Agent and Profiling Utilization Registry Study aims to identify signals of drug activity when Food and Drug Administration approved drugs are matched to pre-specified genomic targets in patients with advanced cancer outside of their approved indication(s). The objectives of the study are to generate evidence of potential signals of activity in targeted therapies prescribed in an off-label setting as well as to expose and educate community cancer centers to genomic testing and precision medicine through the study protocol. The principles of pragmatic trial design can be applied across a broad spectrum of evidence-generation strategies, from explanatory trials to real-world evidence studies, and are briefly discussed. American Society of Clinical Oncology's Targeted Agent and Profiling Utilization Registry Study falls closer to the pragmatic end of this spectrum as it seeks to assess the efficacy of Food and Drug Administration approved drugs used outside their approved indications under usual care conditions, yielding results generalizable to the population that would likely receive the intervention in practice, while still adhering to rigorous data quality standards. The Targeted Agent and Profiling Utilization Registry Study's pragmatic objectives, characteristics, strengths, and limitations in its implementation are discussed and demonstrate that a large, multi-center, precision medicine basket trial can be mounted in the context of community practice and can generate clinically useful information with minimal burden to patients and clinical trial sites.

Assessment of changes in immune status linked to COVID-19 convalescent and its clinical severity in patients and uninfected exposed relatives.

INTRODUCTION: The immune response during and after SARS-CoV-2 infection can be complex and heterogeneous, and it can be affected by the severity of the disease. It can also contribute to an unfavorable evolution and bring about short and long term effects. The aim of this study was to characterize the lymphocyte composition according to the severity of COVID-19, as well as its degree of relationship to the specific humoral response to SARS-CoV-2 in convalescents up to 106 days after the infection and in their exposed relatives. METHODS: An applied research was carried out with a cross-section analytical design, from March 11 to June 11, 2020 in Cuba. The sample consisted of 251 convalescents from COVID-19 over 18 years of age and 88 exposed controls who did not become ill. The B and T cell subpopulations, including memory T cells, as well as the relationship with the humoral immune response against SARS-CoV-2, were identified by flow cytometry and enzyme immunoassay. RESULTS: Convalescent patients, who evolved with severe forms, showed a decrease in frequency and a greater proportion of individuals with values ​​lower than the minimum normal range of B cells, CD3 + CD4 + cells and the CD4 + / CD8 + ratio, as well as a higher frequency and a greater proportion of individuals with values ​​above the normal maximum range of CD3 + CD8 + and NK cells. Convalescent patients with severe forms of COVID-19 that exhibited IgG / RBD titers ≥ 1/200 had a lower frequency of TEMRA CD8 + cells (p = 0.0128) and TEMRA CD4 + (p = 0.0068). IgG / RBD titers were positively correlated with the relative frequency of CD4 + CM T memory cells (r = 0.4352, p = 0.0018). CONCLUSIONS: The identified alterations of B and T lymphocytes suggest that convalescent patients with the severe disease could be vulnerable to infectious, autoimmune or autotinflammatory processes; therefore, these individuals need medical follow-up after recovering from the acute disease. Furthermore, the role of T cells CD4 + CM in the production of antibodies against SARS-CoV-2 is confirmed, and it is noted that the defect of memory T cells CD8 + TEMRA could contribute to the development of severe forms of COVID-19.

Association between Adherence to Swedish Dietary Guidelines and Mediterranean Diet and Risk of Stroke in a Swedish Population.

Dietary factors associated with stroke risk are still rather unknown. The aim was to examine the association between adherence to healthy dietary patterns and incidence of stroke among 25,840 individuals from the Swedish Malmö Diet and Cancer Study cohort. Dietary data were obtained using a combination of a 7-day food record, diet questionnaire, and interview. A Swedish Dietary Guidelines Score (SDGS), including five dietary components based on the current Swedish dietary guidelines, and a modified Mediterranean diet score (mMDS), composed of ten dietary components, were constructed. Over a mean follow-up period of 19.5 years, 2579 stroke cases, of which 80% were ischaemic, were identified through national registers. Weak, non-significant associations were found between the dietary indices and the risk of stroke. However, after excluding potential misreporters and individuals with unstable food habits (35% of the population), we observed significant inverse association (p-trend < 0.05) between SDGS and mMDS and total and ischaemic stroke (HR per point for total stroke: 0.96; 95% CI: 0.92−1.00 for SDGS and 0.95; 95% CI: 0.91−0.99 for mMDS). In conclusion, high quality diet in line with the current Swedish dietary recommendations or Mediterranean diet may reduce the risk of total and ischaemic stroke.

Virtual Focus Groups as an Answer to Research During a Pandemic: Implications for Nursing Professional Development.

Focus groups are a standard method of qualitative data collection and an excellent method for data collection in nursing professional development. Advances in technology, virtual health care, and the COVID-19 pandemic increase the opportunities to use virtual focus groups for rich data collection. In this perspective article, the authors promote virtual focus groups as an answer to challenging data collection, while exploring ways that privacy and confidentiality can be maintained in an online environment.

Friendship Network Satisfaction: A multifaceted construct scored as a unidimensional scale.

Although satisfying friendships are crucial for well-being throughout adulthood, measures of friendship satisfaction have been limited by: (1) item content relevant to children only, (2) a focus on single relationships rather than the friendship network, and (3) disagreement about the number of dimensions necessary to capture the construct. To overcome these limitations, we assembled an item pool from a number of existing measures, created additional items drawn from research on friendships, and then examined the structure and psychometric properties of those items in two online surveys of over 2000 respondents each. Factor analyses consistently identified two correlated factors-closeness and socializing-but bi-factor modeling revealed that scores on both subscales load strongly on a general factor, suggesting that the multifaceted content can be scored efficiently as a unidimensional composite. Analyses using item response theory (IRT) supported the creation of a reliable 14-item instrument that demonstrated adequate convergent and predictive validity. Thus, the Friendship Network Satisfaction (FNS) Scale is a psychometrically sound tool to advance research on friendships across the lifespan.

Effect of changes in adherence to Mediterranean diet on nutrient density after 1-year of follow-up: results from the PREDIMED-Plus Study.

BACKGROUND: The prevalence of overweight/obesity and related manifestations such as metabolic syndrome (MetS) is increasing worldwide. High energy density diets, usually with low nutrient density, are among the main causes. Some high-quality dietary patterns like the Mediterranean diet (MedDiet) have been linked to the prevention and better control of MetS. However, it is needed to show that nutritional interventions promoting the MedDiet are able to improve nutrient intake. OBJECTIVE: To assess the effect of improving MedDiet adherence on nutrient density after 1 year of follow-up at the PREDIMED-Plus trial. METHODS: We assessed 5777 men (55-75 years) and women (60-75 years) with overweight or obesity and MetS at baseline from the PREDIMED-Plus trial. Dietary changes and MedDiet adherence were evaluated at baseline and after 1 year. The primary outcome was the change in nutrient density (measured as nutrient intake per 1000 kcal). Multivariable-adjusted linear regression models were fitted to analyse longitudinal changes in adherence to the MedDiet and concurrent changes in nutrient density. RESULTS: During 1-year follow-up, participants showed improvements in nutrient density for all micronutrients assessed. The density of carbohydrates (- 9.0%), saturated fatty acids (- 10.4%) and total energy intake (- 6.3%) decreased. These changes were more pronounced in the subset of participants with higher improvements in MedDiet adherence. CONCLUSIONS: The PREDIMED-Plus dietary intervention, based on MedDiet recommendations for older adults, maybe a feasible strategy to improve nutrient density in Spanish population at high risk of cardiovascular disease with overweight or obesity.

Association between dairy product consumption and hyperuricemia in an elderly population with metabolic syndrome.

BACKGROUND AND AIMS: The prevalence of hyperuricemia has increased substantially in recent decades. It has been suggested that it is an independent risk factor for weight gain, hypertension, hypertriglyceridemia, metabolic syndrome (MetS), and cardiovascular disease. Results from epidemiological studies conducted in different study populations have suggested that high consumption of dairy products is associated with a lower risk of developing hyperuricemia. However, this association is still unclear. The aim of the present study is to explore the association of the consumption of total dairy products and their subtypes with the risk of hyperuricemia in an elderly Mediterranean population with MetS. METHODS AND RESULTS: Baseline cross-sectional analyses were conducted on 6329 men/women (mean age 65 years) with overweight/obesity and MetS from the PREDIMED-Plus cohort. Dairy consumption was assessed using a food frequency questionnaire. Multivariable-adjusted Cox regressions were fitted to analyze the association of quartiles of consumption of total dairy products and their subtypes with the prevalence of hyperuricemia. Participants in the upper quartile of the consumption of total dairy products (multiadjusted prevalence ratio (PR) = 0.84; 95% CI: 0.75-0.94; P-trend 0.02), low-fat dairy products (PR = 0.79; 95% CI: 0.70-0.89; P-trend <0.001), total milk (PR = 0.81; 95% CI: 0.73-0.90; P-trend<0.001), low-fat milk (PR = 0.80; 95% CI: 0.72-0.89; P-trend<0.001, respectively), low-fat yogurt (PR = 0.89; 95% CI: 0.80-0.98; P-trend 0.051), and cheese (PR = 0.86; 95% CI: 0.77-0.96; P-trend 0.003) presented a lower prevalence of hyperuricemia. Whole-fat dairy, fermented dairy, and yogurt consumption were not associated with hyperuricemia. CONCLUSIONS: High consumption of total dairy products, total milk, low-fat dairy products, low-fat milk, low-fat yogurt, and cheese is associated with a lower risk of hyperuricemia.

Associations between Dietary Polyphenols and Type 2 Diabetes in a Cross-Sectional Analysis of the PREDIMED-Plus Trial: Role of Body Mass Index and Sex.

Overweight and obesity are important risk factors for type 2 diabetes (T2D). Moving towards healthier diets, namely, diets rich in bioactive compounds, could decrease the odds of suffering T2D. However, those individuals with high body mass index (BMI) may have altered absorption or metabolism of some nutrients and dietary components, including polyphenols. Therefore, we aimed to assess whether high intakes of some classes of polyphenols are associated with T2D in a population with metabolic syndrome and how these associations depend on BMI and sex. This baseline cross-sectional analysis includes 6633 participants from the PREDIMED-Plus trial. Polyphenol intakes were calculated from food frequency questionnaires (FFQ). Cox regression models with constant time at risk and robust variance estimators were used to estimate the prevalence ratios (PRs) for polyphenol intake and T2D prevalence using the lowest quartile as the reference group. Analyses were stratified by sex and BMI groups (overweight and obese) to evaluate potential effect modification. Catechins, proanthocyanidins, hydroxybenzoic acids, and lignans were inversely associated with T2D. Hydroxycinnamic acids were directly related in men. These associations were different depending on sex and BMI, that is, women and overweight obtained stronger inverse associations.

Seafood Consumption, Omega-3 Fatty Acids Intake, and Life-Time Prevalence of Depression in the PREDIMED-Plus Trial.

BACKGROUND: The aim of this analysis was to ascertain the type of relationship between fish and seafood consumption, omega-3 polyunsaturated fatty acids (ω-3 PUFA) intake, and depression prevalence. METHODS: Cross-sectional analyses of the PREDIMED-Plus trial. Fish and seafood consumption and ω-3 PUFA intake were assessed through a validated food-frequency questionnaire. Self-reported life-time medical diagnosis of depression or use of antidepressants was considered as outcome. Depressive symptoms were collected by the Beck Depression Inventory-II. Logistic regression models were used to estimate the association between seafood products and ω-3 PUFA consumption and depression. Multiple linear regression models were fitted to assess the association between fish and long-chain (LC) ω-3 PUFA intake and depressive symptoms. RESULTS: Out of 6587 participants, there were 1367 cases of depression. Total seafood consumption was not associated with depression. The odds ratios (ORs) (95% confidence intervals (CIs)) for the 2nd, 3rd, and 4th quintiles of consumption of fatty fish were 0.77 (0.63⁻0.94), 0.71 (0.58⁻0.87), and 0.78 (0.64⁻0.96), respectively, and p for trend = 0.759. Moderate intake of total LC ω-3 PUFA (approximately 0.5⁻1 g/day) was significantly associated with a lower prevalence of depression. CONCLUSION: In our study, moderate fish and LC ω-3 PUFA intake, but not high intake, was associated with lower odds of depression suggesting a U-shaped relationship.

La Mínima Incisión en la cirugía de catarata pediátrica / Minor Incision pediatric cataract surgery

Introducción: las cataratas congénitas e infantiles constituyen una amenaza para el desarrollo visual en los niños, pues inhiben o detienen potencialmente su maduración, unido a la complejidad de su tratamiento. Objetivo: evaluar los resultados visuales y anatómicos de la cirugía de catarata infantil con el uso de la incisión corneal pequeña autosellante. Método: se realizó un estudio transversal, cuyo universo estuvo constituido por 19 niños (24 ojos) con catarata congénita e infantil, intervenidos quirúrgicamente en el Hospital Pediátrico de Holguín en 2016 y 2017. Se evaluaron las variables: edad, sexo, etiología, agudeza visual pre y postoperatoria a los 3 meses, técnica quirúrgica empleada, astigmatismo inducido, conservación de la transparencia y curvatura corneal, así como complicaciones. Resultados: predominó el grupo de edad de 3 a 8 años con el 47,4%, y el sexo masculino, con el 79%, y la etiología congénita ascendió hasta el 50%. La agudeza visual preoperatoria entre percepción luminosa a 0,1 se presentó en el 50%. En la postoperatoria del 62,5% de los casos se obtuvo entre 0,7 a 1,0. La técnica quirúrgica empleada fue la incisión corneal pequeña autosellante, en el 75%, y el astigmatismo inducido fue bajo, menor de 1 D. La transparencia corneal se conservó en el 100%, y en el 62,5% la curvatura corneal tuvo variaciones mínimas (≤0,50 D). Las complicaciones más frecuentes fueron opacidad de la cápsula posterior con 50% y uveítis anterior con el 37,5%. Conclusiones: el uso de la incisión corneal pequeña autosellante en la cirugía de catarata infantil garantiza buenos resultados visuales y anatómicos.

Introduction: congenital and infant cataracts are a threat for children visual development because this can mainly be inhibited or stopped and it also requires a complicated treatment. Objective: to evaluate anatomic and visual results of infant cataracts surgeries by self-sealant corneal incision. Method: a transversal study which universe was composed by 19 children (24 eyes) suffering from congenital or infants cataracts, who were operated at the Pediatric Hospital of Holguín, during 2016 to 2017, was carried out. Some variables like: age, sex, etiology, pre and postsurgical visual sharpness in the first 3 months, surgical techniques, induced astigmatism, transparency preservation corneal curve and possible complications, were evaluated. Results: ages from 3 to 8 years prevailed up to 47.4%, as well as males with 79% and congenital etiology with a 50%. Pre-surgical visual sharpness was in the range of PL- 0.1 representing the 50%, while post- surgical was between 0.7- 1.0 in 62.5% of the cases. Surgical technique was the self-sealant small incision in 75%. Induced astigmatism was low, less than 1D. Corneal transparency was obtained 100%, and the corneal curvature had minor variations (≤0.50D) in 62.5% of the cases. Most frequent complications were posterior capsule dullness (50%) and the anterior uveitis (37.5%). Conclusions: the use of the small self-sealant corneal incision in the infant cataracts surgery guarantees good anatomic and visual outcomes.

Síndrome de Noonan. Presentación de caso / Presentation of a Noonan´syndrome case

Se presenta el caso de una niña de 6 años con diagnóstico de síndrome de Noonan, enfermedad genética que se caracteriza por variaciones fenotípicas similares al de Turner. Suele aparecer con carácter autosómico dominante. En ocasiones, muestra una expresión variable, con manifestaciones oftalmológicas como: hipertelorismo, ptosis palpebral bilateral, hendidura palpebral antimongoloide, puente nasal ancho, esotropia de pequeño ángulo y ambliopía. La paciente se atendió en el Hospital Pediátrico Provincial de Holguín.

Introducing the case of a 6 years old girl diagnosed with Noonan´s syndrome. An approach to her physical characteristics, resembling Turner´s syndrome. Noonan´s syndrome is a genetic disorder. It is usually acquired by dominant autosomal genetic traits. In some cases variable expressions appear. In this particular case, ophthalmological characteristics such as: hyperthelorism, bilateral palpebral ptosis, thick eyelids, wide nasal bridge, small angle esotropia, and amblyopia were found. This girl was assisted at the Holguín´s Pediatric Hospital, in Cuba.

Síndrome de Noonan. Presentación de caso / Presentation of a Noonan´syndrome case

Se presenta el caso de una niña de 6 años con diagnóstico de síndrome de Noonan, enfermedad genética que se caracteriza por variaciones fenotípicas similares al de Turner. Suele aparecer con carácter autosómico dominante. En ocasiones, muestra una expresión variable, con manifestaciones oftalmológicas como: hipertelorismo, ptosis palpebral bilateral, hendidura palpebral antimongoloide, puente nasal ancho, esotropia de pequeño ángulo y ambliopía. La paciente se atendió en el Hospital Pediátrico Provincial de Holguín.(AU)

Introducing the case of a 6 years old girl diagnosed with Noonan´s syndrome. An approach to her physical characteristics, resembling Turner´s syndrome. Noonan´s syndrome is a genetic disorder. It is usually acquired by dominant autosomal genetic traits.In some cases variable expressions appear. In this particular case, ophthalmological characteristics such as: hyperthelorism, bilateral palpebral ptosis, thick eyelids, wide nasal bridge, small angle esotropia, and amblyopia were found. This girl was assisted at the Holguín´s Pediatric Hospital, in Cuba.(AU)

Determinants of increasing serum POPs in a population at high risk for cardiovascular disease. Results from the PREDIMED-CANARIAS study.

Persistent organic pollutants (POPs) are well-known ubiquitous environmental chemicals which have been related to adverse health outcomes, including cardiovascular disease (CVD). The purpose of this study was to evaluate POPs burden, and its determinants, in a population at high risk of suffering CVD enrolled in the PREDIMED Study (Spanish acronym for PREvention by means of MEDiterranean Diet). This cohort was formed by 343 participants (55-80 y.o.), which were selected for a preventive nutritional intervention for CVD based on the Mediterranean Diet. Relevant information on demographic, behavioral, dietary, and socioeconomic characteristics was obtained from each participant through a specific questionnaire, and their anthropometric and clinical measurements were recorded. In addition, the levels of 35 POPs were determined in serum samples taken before the beginning of the nutritional intervention. All the samples showed detectable levels of, at least, one POP, being DDT-derivatives and marker-PCBs the most frequently detected compounds. Our results showed that people at high risk for CVD showed a higher level of contamination by POPs as compared to other studies done in cohorts of Western people at no special risk of CVD. Although educational level seems to be a relevant determinant for POPs burden in our population, the main determining factor seems to be the diet. Thus, while the intake of food of animal origin was significantly associated with levels of PCBs, especially in men, the intake of vegetal-origin food was positively related to levels of organochlorine pesticides, indicating a different dietary source for these two groups of chemicals. Our results showing that subjects at high risk for cardiovascular disease present elevated POPs burden might have a relevant public health impact given the generalized and difficult to avoid exposure to POPs and the elevated worldwide frequency of the CVD.

Presentación de dos hermanos con síndrome de Wolfram / Presentation of Two Brothers with Wolfram Syndrome

El síndrome de Wolfram es una enfermedad neurodegenerativa progresiva con transmisión autosómica recesiva, caracterizada por la presencia de diabetes mellitus y atrofia óptica, también pueden estar presentes la diabetes insípida y la disacusia neurosensorial explicando el acrónimo DIDMOAD (diabetes insípida, diabetes mellitus, atrofia óptica y sordera). Cursa con diversas manifestaciones clínicas, además, como la dilatación de las vías urinarias, alteraciones neurológicas, alteraciones psiquiátricas y alteraciones gonadales. La diabetes mellitus, de aparición precoz y con poca prevalencia de cetoacidosis y la atrofia óptica se consideran criterios diagnósticos fundamentales en este síndrome. Se presenta en la infancia, lo que da lugar a una mayor dificultad diagnóstica y terapéutica, con una elevada morbimortalidad y deterioro de la calidad de vida por las afectaciones neurológicas y urológicas. Se presentaron dos pacientes, hermanos, con síndrome de Wolfram y sus manifestaciones oftalmológicas, cuyo diagnóstico se realizó por la presencia de diabetes mellitus en la primera década de la vida y atrofia óptica bilateral, ahora con 18 y 11 años de edad, respectivamente.

Wolfram syndrome is a progressive neurodegenerative disease with an autosomal recessive inheritance, characterized by the presence of diabetes mellitus and optic atrophy, diabetes insipidus and neurosensorial deafness can also be present, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).The syndrome shows some various clinical manifestations such as urinary tract dilation and, neurological, psychiatric and gonadal disorders.The early onset diabetes mellitus, a low prevalence of ketoacidosis and an optic atrophy are considered key diagnostic criteria in this syndrome. It occurs during childhood what leads to a bigger diagnostic and therapeutic difficulty, with an elevated morbi-mortality and deterioration of the quality of life due to the neurological and urological affectations. Two brother patients with Wolfram syndrome and his ophthalmological manifestations were reported, whose diagnosis was made by the presence of diabetes mellitus in the first decade of life and bilateral optic atrophy, now they are 18 and 11 years old.

Beverage Intake Assessment Questionnaire: Relative Validity and Repeatability in a Spanish Population with Metabolic Syndrome from the PREDIMED-PLUS Study.

We assess the repeatability and relative validity of a Spanish beverage intake questionnaire for assessing water intake from beverages. The present analysis was performed within the framework of the PREDIMED-PLUS trial. The study participants were adults (aged 55-75) with a BMI ≥27 and <40 kg/m², and at least three components of Metabolic Syndrome (MetS). A trained dietitian completed the questionnaire. Participants provided 24-h urine samples, and the volume and urine osmolality were recorded. The repeatability of the baseline measurement at 6 and 1 year was examined by paired Student's t-test comparisons. A total of 160 participants were included in the analysis. The Bland-Altman analysis showed relatively good agreement between total daily fluid intake assessed using the fluid-specific questionnaire, and urine osmolality and 24-h volume with parameter estimates of -0.65 and 0.22, respectively (R² = 0.20; p < 0.001). In the repeatability test, no significant differences were found between neither type of beverage nor total daily fluid intake at 6 months and 1-year assessment, compared to baseline. The proposed fluid-specific assessment questionnaire designed to assess the consumption of water and other beverages in Spanish adult individuals was found to be relatively valid with good repeatability.

Phosphorylation of Bni4 by MAP kinases contributes to septum assembly during yeast cytokinesis.

Previous work has shown that the synthetic lethality of the slt2Δrim101Δ mutant results from a combination of factors, including improper functioning of the septum assembly machinery. Here, we identify new multicopy suppressors of this lethality including Kss1, Pcl1 and Sph1, none of which seems to be linked to the upregulation of chitin synthesis. Characterization of the suppression mediated by Kss1 showed that it is independent of the transcriptional response of the CWI signaling response, but efficiently restores the Bni4 localization defects produced by the absence of Slt2. Accordingly, Bni4 interacts physically with both kinases, and its levels of phosphorylation are reduced in the slt2Δ mutant but increased after Kss1 overexpression. Using an assay based on hypersensitive cells of the cdc10-11 mutant, we have pinpointed several MAP kinase phosphorylatable residues required for Bni4 function. Our results, together with a genetic correlation analysis, strongly support a functional model linking Slt2 MAP kinase and Pcl1, a Pho85 cyclin-dependent kinase, in septum assembly through Bni4. This model, based on the coordinated phosphorylation of Bni4 by both kinases, would be able to integrate cellular signals rapidly to maintain cell integrity during cytokinesis.

Influence of a Mediterranean Dietary Pattern on Body Fat Distribution: Results of the PREDIMED-Canarias Intervention Randomized Trial.

OBJECTIVE: To assess the influence of a Mediterranean dietary pattern (MeDiet) on anthropometric and body composition parameters in one of the centers of the PREDIMED randomized dietary trial. SUBJECTS/SETTINGS: 351 Canarian free-living subjects aged 55 to 80 years, with type 2 diabetes or ≥3 cardiovascular risk factors. INTERVENTION: Participants were randomly assigned to one of 3 different dietary interventions: MeDiet + extra-virgin olive oil (EVOO), MeDiet + nuts (walnuts, almonds, and hazelnuts), or a control low-fat diet. Total energy intake was ad libitum. OUTCOME MEASURES: Measures included changes in anthropometric measures (weight, body mass index [BMI] and waist circumference [WC]), body fat distribution, energy, and nutrient intake after 1 year. Body composition (percentage of total body fat [%TBF], total fat mass [TFM], free fat mass [FFM], percentage of truncal fat [%TrF], truncal fat mass [TrFM]) and total body water (TBW) were estimated by octapolar electrical impedance analysis. STATISTICAL ANALYSES: Paired t tests were conducted to assess within-group changes. Analyses of variance (ANOVAs) were used to assess the effect of the dietary intervention on the percentage change in anthropometric variables, body composition, and dietary intake profile. All pairwise comparisons that were statistically significant in ANOVA were subsequently adjusted using the Benjamini-Hochberg test, which penalizes for multiple comparisons. RESULTS: After 1 year of intervention, significant within-group reductions in all anthropometric variables were observed for the MeDiet + EVOO and the control group. The MeDiet + nuts group exhibited a significant reduction in WC and TBW. The control group showed a significant increase in %TBF and a reduction in TBW. The control group showed a significant increase in the percentage of total body fat and a reduction in TBW. However, we did not find any between-group significant difference in anthropometric or body composition changes. CONCLUSIONS: Mediterranean diets enriched with EVOO or specific mixed nuts (walnuts, almonds, hazelnuts) that contain approximately 40% total fat can be alternative options to low-fat diets for weight maintenance regimes in older overweight or obese adults.

Presentación de dos hermanos con síndrome de Wolfram / Presentation of Two Brothers with Wolfram Syndrome

El síndrome de Wolfram es una enfermedad neurodegenerativa progresiva con transmisión autosómica recesiva, caracterizada por la presencia de diabetes mellitus y atrofia óptica, también pueden estar presentes la diabetes insípida y la disacusia neurosensorial explicando el acrónimo DIDMOAD (diabetes insípida, diabetes mellitus, atrofia óptica y sordera). Cursa con diversas manifestaciones clínicas, además, como la dilatación de las vías urinarias, alteraciones neurológicas, alteraciones psiquiátricas y alteraciones gonadales. La diabetes mellitus, de aparición precoz y con poca prevalencia de cetoacidosis y la atrofia óptica se consideran criterios diagnósticos fundamentales en este síndrome. Se presenta en la infancia, lo que da lugar a una mayor dificultad diagnóstica y terapéutica, con una elevada morbimortalidad y deterioro de la calidad de vida por las afectaciones neurológicas y urológicas. Se presentaron dos pacientes, hermanos, con síndrome de Wolfram y sus manifestaciones oftalmológicas, cuyo diagnóstico se realizó por la presencia de diabetes mellitus en la primera década de la vida y atrofia óptica bilateral, ahora con 18 y 11 años de edad, respectivamente.(AU)

Wolfram syndrome is a progressive neurodegenerative disease with an autosomal recessive inheritance, characterized by the presence of diabetes mellitus and optic atrophy, diabetes insipidus and neurosensorial deafness can also be present, explaining the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).The syndrome shows some various clinical manifestations such as urinary tract dilation and, neurological, psychiatric and gonadal disorders.The early onset diabetes mellitus, a low prevalence of ketoacidosis and an optic atrophy are considered key diagnostic criteria in this syndrome. It occurs during childhood what leads to a bigger diagnostic and therapeutic difficulty, with an elevated morbi-mortality and deterioration of the quality of life due to the neurological and urological affectations. Two brother patients with Wolfram syndrome and his ophthalmological manifestations were reported, whose diagnosis was made by the presence of diabetes mellitus in the first decade of life and bilateral optic atrophy, now they are 18 and 11 years old.