Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.

BACKGROUND: Hereditary adenomatous polyposis syndromes, including familial adenomatous polyposis and other rare adenomatous polyposis syndromes, increase the lifetime risk of colorectal and other cancers. METHODS: A team of 38 experts convened to update the 2008 European recommendations for the clinical management of patients with adenomatous polyposis syndromes. Additionally, other rare monogenic adenomatous polyposis syndromes were reviewed and added. Eighty-nine clinically relevant questions were answered after a systematic review of the existing literature with grading of the evidence according to Grading of Recommendations, Assessment, Development, and Evaluation methodology. Two levels of consensus were identified: consensus threshold (≥67% of voting guideline committee members voting either 'Strongly agree' or 'Agree' during the Delphi rounds) and high threshold (consensus ≥ 80%). RESULTS: One hundred and forty statements reached a high level of consensus concerning the management of hereditary adenomatous polyposis syndromes. CONCLUSION: These updated guidelines provide current, comprehensive, and evidence-based practical recommendations for the management of surveillance and treatment of familial adenomatous polyposis patients, encompassing additionally MUTYH-associated polyposis, gastric adenocarcinoma and proximal polyposis of the stomach and other recently identified polyposis syndromes based on pathogenic variants in other genes than APC or MUTYH. Due to the rarity of these diseases, patients should be managed at specialized centres.

Genetic predisposition to gastrointestinal polyposis: syndromes, tumour features, genetic testing, and clinical management.

Gastrointestinal tract polyposis is characterised by the presence of multiple polyps, particularly in the colorectum, and encompasses both cancer predisposition genetic syndromes and non-syndromic clinical manifestations. The sources of the heterogeneity observed in polyposis syndromes relate to genetic cause, mode of inheritance, polyp burden and histological type, and spectrum and frequency of extracolonic manifestations. These features determine the clinical management of carriers, including strategies for cancer prevention and early detection, and oncological treatments. Despite substantial progress in identifying the genetic causes of polyposis, a large proportion of cases remain genetically unexplained. Although some of these cases might be due to lifestyle, environmental factors, or cancer treatments, it is likely that additional polyposis predisposition genes will be identified. This Review provides an overview of the known syndromes and genes, genetic testing, and clinical management of patients with polyposis, and recent advances and challenges in the field of gastrointestinal polyposis.

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

POLE driver mutations in the exonuclease domain (ExoD driver) are prevalent in several cancers, including colorectal cancer and endometrial cancer, leading to dramatically ultra-high tumor mutation burden (TMB). To understand whether POLE mutations that are not classified as drivers (POLE Variant) contribute to mutagenesis, we assessed TMB in 447 POLE-mutated colorectal cancers, endometrial cancers, and ovarian cancers classified as TMB-high ≥10 mutations/Mb (mut/Mb) or TMB-low <10 mut/Mb. TMB was significantly highest in tumors with "POLE ExoD driver plus POLE Variant" (colorectal cancer and endometrial cancer, P < 0.001; ovarian cancer, P < 0.05). TMB increased with additional POLE variants (P < 0.001), but plateaued at 2, suggesting an association between the presence of these variants and TMB. Integrated analysis of AlphaFold2 POLE models and quantitative stability estimates predicted the impact of multiple POLE variants on POLE functionality. The prevalence of immunogenic neoepitopes was notably higher in the "POLE ExoD driver plus POLE Variant" tumors. Overall, this study reveals a novel correlation between POLE variants in POLE ExoD-driven tumors, and ultra-high TMB. Currently, only select pathogenic ExoD mutations with a reliable association with ultra-high TMB inform clinical practice. Thus, these findings are hypothesis-generating, require functional validation, and could potentially inform tumor classification, treatment responses, and clinical outcomes. SIGNIFICANCE: Somatic POLE ExoD driver mutations cause proofreading deficiency that induces high TMB. This study suggests a novel modifier role for POLE variants in POLE ExoD-driven tumors, associated with ultra-high TMB. These data, in addition to future functional studies, may inform tumor classification, therapeutic response, and patient outcomes.

Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.

Constitutional heterozygous pathogenic variants in the exonuclease domain of POLE and POLD1, which affect the proofreading activity of the corresponding polymerases, cause a cancer predisposition syndrome characterized by increased risk of gastrointestinal polyposis, colorectal cancer, endometrial cancer and other tumor types. The generally accepted explanation for the connection between the disruption of the proofreading activity of polymerases epsilon and delta and cancer development is through an increase in the somatic mutation rate. Here we studied an extended family with multiple members heterozygous for the pathogenic POLD1 variant c.1421T>C p.(Leu474Pro), which segregates with the polyposis and cancer phenotypes. Through the analysis of mutational patterns of patient-derived fibroblasts colonies and de novo mutations obtained by parent-offspring comparisons, we concluded that heterozygous POLD1 L474P just subtly increases the somatic and germline mutation burden. In contrast, tumors developed in individuals with a heterozygous mutation in the exonuclease domain of POLD1, including L474P, have an extremely high mutation rate (>100 mut/Mb) associated with signature SBS10d. We solved this contradiction through the observation that tumorigenesis involves somatic inactivation of the wildtype POLD1 allele. These results imply that exonuclease deficiency of polymerase delta has a recessive effect on mutation rate.

A Simplified Screening Model to Predict the Risk of Gestational Diabetes Mellitus in Caucasian and Latin American Pregnant Women.

The pathophysiology of gestational diabetes mellitus (GDM) comprises clinical and genetic factors. In fact, GDM is associated with several single nucleotide polymorphisms (SNPs). This study aimed to build a prediction model of GDM combining clinical and genetic risk factors. A total of 1588 pregnant women from the San Carlos Cohort participated in the present study, including 1069 (67.3%) Caucasian (CAU) and 519 (32.7%) Latin American (LAT) individuals, and 255 (16.1%) had GDM. The incidence of GDM was similar in both groups (16.1% CAU and 16.0% LAT). Genotyping was performed via IPLEX Mass ARRAY PCR, selecting 110 SNPs based on literature references. SNPs showing the strongest likelihood of developing GDM were rs10830963, rs7651090, and rs1371614 in CAU and rs1387153 and rs9368222 in LAT. Clinical variables, including age, pre-pregnancy body mass index, and fasting plasma glucose (FPG) at 12 gestational weeks, predicted the risk of GDM (AUC 0.648, 95% CI 0.601-0.695 in CAU; AUC 0.688, 95% CI 0.628-9.748 in LAT), and adding SNPs modestly improved prediction (AUC 0.722, 95%CI 0.680-0.764 in CAU; AUC 0.769, 95% CI 0.711-0.826 in LAT). In conclusion, adding genetic variants enhanced the prediction model of GDM risk in CAU and LAT pregnant women.

Germline NPAT inactivating variants as cause of hereditary colorectal cancer.

Two independent exome sequencing initiatives aimed to identify new genes involved in the predisposition to nonpolyposis colorectal cancer led to the identification of heterozygous loss-of-function variants in NPAT, a gene that encodes a cyclin E/CDK2 effector required for S phase entry and a coactivator of histone transcription, in two families with multiple members affected with colorectal cancer. Enrichment of loss-of-function and predicted deleterious NPAT variants was identified in familial/early-onset colorectal cancer patients compared to non-cancer gnomAD individuals, further supporting the association with the disease. Previous studies in Drosophila models showed that NPAT abrogation results in chromosomal instability, increase of double strand breaks, and induction of tumour formation. In line with these results, colorectal cancers with NPAT somatic variants and no DNA repair defects have significantly higher aneuploidy levels than NPAT-wildtype colorectal cancers. In conclusion, our findings suggest that constitutional inactivating NPAT variants predispose to mismatch repair-proficient nonpolyposis colorectal cancer.

Early Mediterranean-Based Nutritional Intervention Reduces the Rate of Gestational Diabetes in Overweight and Obese Pregnant Women: A Post-Hoc Analysis of the San Carlos Gestational Prevention Study.

Obesity is a risk factor for the development of gestational diabetes mellitus (GDM). However, the most optimal type of nutritional intervention to prevent GDM in high-risk women is not clearly defined. This study investigates if nutritional treatment based on the Mediterranean diet (MedDiet) before the 12th gestational week (GW) in women at high risk due to a body mass index (BMI) ≥ 25 kg/m2 reduces the rate of GDM and metabolic syndrome (MetS) at 3 years postpartum. We performed a post-hoc analysis of the San Carlos Gestational Prevention Study. A total of 735 women with BMI ≥ 25 kg/m2 were evaluated between 2015 and 2018, with 246 in the standard diet control group (CG) and 489 in the MedDiet intervention group (IG). The rate of GDM was significantly lower in IG compared to CG (25.1% vs. 31.7%), relative risk (95% confidence interval), and 0.89 (0.78-0.99); p = 0.037. Postnatal follow-up was completed by 141 women in CG (57%) and 312 women in IG (64%). At 3 years postpartum, we observed a reduction in the rates of impaired fasting glucose (IFG) (0.51 (0.28-0.92); p = 0.019), obesity (0.51 (0.28-0.92); p = 0.041), waist circumference (WC) ≥ 89.5 cm (0.54 (0.31-0.94); p = 0.022), and MetS (0.56 (0.33-0.94); p = 0.003). MedDiet reduces the rate of GDM and postpartum MetS in women with BMI) ≥ 25 kg/m2, suggesting that its implementation should be routinely recommended from the first GWs.

Intact Short, Intermediate, and Long Skeletal Muscle Fibers Obtained by Enzymatic Dissociation of Six Hindlimb Muscles of Mice: Beyond Flexor Digitorum Brevis.

Skeletal muscle fibers obtained by enzymatic dissociation of mouse muscles are a useful model for physiological experiments. However, most papers deal with the short fibers of the flexor digitorum brevis (FDB), which restrains the scope of results dealing with fiber types, limits the amount of biological material available, and impedes a clear connection between cellular physiological phenomena and previous biochemical and dynamical knowledge obtained in other muscles. This paper describes how to obtain intact fibers from six muscles with different fiber type profiles and lengths. Using C57BL/6 adult mice, we show the muscle dissection and fiber isolation protocol and demonstrate the suitability of the fibers for Ca2+ transient studies and their morphometric characterization. The fiber type composition of the muscles is also presented. When dissociated, all muscles rendered intact, living fibers that contract briskly for more than 24 h. FDB gave short (<1 mm), peroneus digiti quarti (PDQA) and peroneus longus (PL) gave intermediate (1-3 mm), while extensor digitorum longus (EDL), extensor hallucis longus (EHL), and soleus muscles released long (3-6 mm) fibers. When recorded with the fast dye Mag-Fluo-4, Ca2+ transients of PDQA, PL, and EHL fibers showed the fast, narrow kinetics reminiscent of the morphology type II (MT-II), known to correspond to type IIX and IIB fibers. This is consistent with the fact that these muscles have over 90% of type II fibers compared with FDB (~80%) and soleus (~65%). Moving beyond FDB, we demonstrate for the first time the dissociation of several muscles, which render fibers spanning a range of lengths between 1 and 6 mm. These fibers are viable and give fast Ca2+ transients, indicating that the MT-II can be generalized to IIX and IIB fast fibers, regardless of their muscle source. These results increase the availability of models for mature skeletal muscle studies.

Reconstrucción de extremidad inferior: epidemiología, manejo y seguimiento de pacientes en el Centro Médico Lic. Adolfo López Mateos, Toluca, México / Lower extremity reconstruction: epidemiology, management and outcomes of patients at the Medical Center Lic. Adolfo López Mateos, Toluca, México

Introducción y objetivo: Las lesiones de la extremidad inferior son una entidad frecuente y en ocasiones requieren tratamientos reconstructivos avanzados por zona afecta. Siempre se ha cuestionado sobre el mejor tiempo quirúrgico para reconstruir dichas lesiones. El objetivo de este estudio es aportar un mejor conocimiento sobre el tiempo recomendado para reconstrucción así como sobre la funcionalidad de la extremidad dependiendo de esa variable, análisis que extraemos del tratamiento y estudio de diversos casos tratados por los especialistas del Centro Médico Lic. Adolfo López Mateos en Toluca, México.Material y método. Estudio retrospectivo de casos abarcando distintas técnicas de análisis: observacional, estadística descriptiva para el análisis de datos y seguimiento de casos con lesión de pierna y pie con necesidad de manejo quirúrgico, revisando expedientes entre marzo de 2017 y febrero de 2020. Incluimos 29 expedientes en un estudio dividido en 4 grupos de reconstrucción: de 0 a 3 días; de 3 a 21 días; de 22 a 90 días; y más de 90 días. Resultados: El mecanismo de lesión más frecuente fue accidente por motocicleta y quemaduras en el 27.59% de los casos, seguido de atropello en el 17.24%. El tercio más afectado fue el inferior con un 37.93%. El tipo de colgajo más frecuentemente utilizado fue el sural reverso, con un 31.03%. Se reoperó el 13.70% de los pacientes y la principal complicación fue la necrosis total del colgajo en un 10.34%. Conclusiones: Encontramos el mayor número de complicaciones en el tercer grupo, en el que la reconstrucción se hizo entre los 22 y los 90 días, con mayor pérdida de los colgajos así como menor funcionalidad de la extremidad. De esto podemos deducir que el tiempo óptimo de reconstrucción de las lesiones de la extremidad inferior estaría dentro de los primeros 21 días. Así mismo, que es importante rehabilitar de forma oportuna para generar menores secuelas. (AU)

Background and objective: Lower extremity injures are a frequent entity and sometimes required advanced reconstructive treatments for each affected area. There has always been a question about when would be the best surgical time to perform reconstructions of these injuries. For this reason, the main objective of this study is to provide a better understanding of the time of reconstruction of the lower limb as well as the functionality, from cases analyzed at the Medical Center Lic. Adolfo López Mateos in Toluca, México. Methods: Retrospective case study combining different methods: observational, descriptive statistics for data analysis and follow-up of cases with leg and foot injuries requiring surgical management, reviewing files between March 2017 and February 2020. We included 29 cases divided into 4 recons- truction groups: from 0 to 3 days; from 3 to 21 days; from 22 to 90 days; and more than 90 days. Results: The most frequent injury mechanism was motorcycle accident and burns in 27.59%, followed by run over in 17.24%. The most affected leg third was the lower one in 37.93%. The most frequently used type of flap was sural reverse in 31.03%. The 13.70% of the patients underwent reoperation and the main complication was total necrosis of the flap in 10.34%. Conclusions: The highest number of complications were found in the third group with a reconstruction time of 22 to 90 days. The greatest flap losses occurred in this group as well as less functionality of the limb. From this we can deduce that an optimal reconstruction time for lower extremity injuries is within the first 21 days. Likewise, we can conclude that it is important to carry out rehabilitation in a timely manner to generate fewer sequelae. (AU)

Porcentaje de grasa corporal asociado a calidad de la dieta y consumo de alcohol en estudiantes de medicina de una universidad pública de México / Body fat percentage associated with diet quality and alcohol consumption in medical students at a public university in mexico

Fundamentos: En México, según la Encuesta Nacional de Salud y Nutrición (2016) más del 70 % de la población mayora 20 años y 36,3% de los jóvenes de entre 12 y 19 años presentan sobrepeso u obesidad. Existen varios factores vinculados a su desarrollo, entre ellos una inadecuada alimentación y consumo de bebidas alcohólicas. El objetivo fue Identificar la asociación del porcentaje de grasa corporal con la calidad dela dieta y el consumo de alcohol en estudiantes de medicina. Métodos: Se realizó una encuesta transversal en universitarios de 18 a 24 años. La calidad de la dieta se evaluó mediante el índice de calidad de la dieta mexicana (ICDMX). Se midió el porcentaje de grasa corporal mediante bioimpedancia eléctrica. La asociación se determinó mediante las pruebas estadísticas ANOVA, chi-cuadrada y regresión logística binaria. Resultados: De 367 estudiantes 60,2% reportó consumir alcohol. Se encontraron diferencias estadísticamente significativas entre el porcentaje de grasa y la calidad de la dieta(p < 0,05). Las mujeres se encontraron con mayor probabilidad de presentar un porcentaje de grasa corporal superior a lo óptimo. Conclusiones: Se resalta la importancia de implementar actividades dentro de la universidad para evitar que los estudiantes desarrollen hábitos de riesgo. (AU)

Background: In Mexico, according to the National Health and Nutrition Survey (2016), more than 70% of the population over 20 years of age and 36.3% of young peoplebetween 12 and 19 years of age are overweight or obese. There are several factors linked to its development, including an inadequate diet and consumption of alcoholic beverages.The objective was to identify the association of the body fatpercentage with the diet quality and alcohol consumption inmedical students.Methods: A cross-sectional survey was carried out inuniversity students between 18 and 24 years old. The diet qualitywas evaluated using the Mexican Diet Quality Index (ICDMX).Body fat percentage was measured by electrical bioimpedance. The association was determined using the ANOVA, chi-square,and binary logistic regression statistical tests. Results: Of 367 students, 60.2% reported consuming alcohol. Statistically significant differences were foundbetween the percentage of fat and the diet quality (p <0.05). Women were more likely to have a higher thanoptimal body fat percentage. Conclusions: The importance of implementing activities within the university is highlighted to prevent students from developing risk habits. (AU)

Calidad de vida relacionada con la salud en pacientes trasplantados de córnea de un hospital de tercer nivel / Quality of life in adult patients after the cornea transplant in a third level hospita

Introducción: La grave limitación funcional que conlleva la ceguera o debilidad visual concede al trasplante de córnea un alto valor social, económico y humano. La calidad de vida relacionada con la salud se puede considerar como un indicador de calidad asistencial. Objetivo: Determinar la calidad de vida en pacientes adultos después del trasplante de córnea en un hospital de tercer nivel. Método: Con aprobación ética, se realizó un estudio transversal en pacientes trasplantados de córnea de 2012 a 2016. Se analizaron variables sociodemográficas, calidad de vida relacionada con la salud (SF-36) y agudeza visual en el ojo trasplantado (movimiento de manos, recuento de dedos y test de Snellen). Se aplicaron la prueba de ji cuadrado, el test de Kruskal-Wallis y el test de Wilcoxon; se consideró significativa una p < 0.05. Resultados: Se incluyeron 60 pacientes de 17 a 89 años de edad receptores de trasplante de córnea. El motivo de trasplante más frecuente fue por queratocono (n = 36). El 60% (n = 36) tuvieron buena visión después del trasplante y se hallaron diferencias significativas entre la agudeza visual del ojo trasplantado preoperatoria y posoperatoria (p = 0.000). La calidad de vida fue buena en el 86.67% de la muestra. Las dimensiones de la calidad de vida fueron mayores a medida que mejoró la agudeza visual (p < 0.05). Conclusiones: El seguimiento a pacientes trasplantados de córnea es indispensable para evaluar los resultados de la atención médica.

Introduction: The severe functional limitation that blindness or visual weakness entails gives a high social, economic and human value to corneal transplantation. The quality of life related to health can be considered as an indicator of quality of care. Objective: To determine the quality of life in adult patients, after the cornea transplant in a third level hospital. Method: With ethical approval, a cross-sectional survey was carried out in patients transplanted from the cornea from 2012 to 1016. Sociodemographic variables, quality of life related to health (SF-36) and visual acuity (hand movement, counting of fingers and Snellen test). Chi-square test, Kruskal-Wallis test, Wilcoxon test and p < 0.05 were considered significant. Results: We included 60 patients from 17 to 89 years of age, transplanted from the cornea. The most frequent reason for transplant was keratoconus (n = 36). Sixty percent (n = 36) had good vision after transplantation and significant differences were found between visual acuity before and after surgery (p = 0.000). The quality of life was good in 86.67% of the sample. The dimensions of quality of life were greater as visual acuity improved (p < 0.05). Conclusions: The follow-up of patients transplanted from the cornea is essential to evaluate the results of medical care

Relación de la grasa corporal con la alimentación emocional y calidad de la dieta en universitarios de México / Relationship of body fat with emotional eating and quality of diet in university students from Mexico

La obesidad es un problema de salud pública. La comprensión de factores tanto emocionales como dietéticos relacionados a su desarrollo es fundamentales para abordar este problema. El objetivo del presente estudio fue analizar por sexo y edad la relación de la grasa corporal con la alimentación emocional (AE) y la calidad de la dieta (CD) en población universitaria. Se realizó un estudio transversal en el que participaron 367 estudiantes universitarios de medicina (65 % mujeres). El porcentaje de grasa se midió a través de bioimpedancia eléctrica. La alimentación emocional (AE) (emoción, familia, indiferencia, cultura y efecto del alimento) se obtuvo de la escala de AE y la calidad de la dieta (CD)a partir de índice de calidad de la dieta mexicana (ICMX) (suficiente, balanceada, completa, variada e inocua), mediante un cuestionario semicuantitativo de frecuencia de consumo de alimentos. Para identificar qué variables independientes explican el porcentaje de grasa corporal se utilizó la regresión lineal múltiple. Se encontraron diferencias estadísticamente significativas entre sexos, los hombres presentaron valores superiores a las mujeres en edad, peso, altura e IMC (kg/m2), mientras que las mujeres presentaron un mayor porcentaje de grasa corporal respecto a los hombres. La cultura (p=,001) y efecto del alimento (p=,006), factores de la AE, predijeron menor porcentaje de grasa corporal en hombres mayores de 20 años. Resulta necesario implementar programas de salud, que vayan encaminados a un consumo saludable de alimentos mediante actividades recreativas y con el acompañamiento de profesionales de la salud durante la universidad(AU)

Obesity is a public health problem. Understanding both emotional and dietary factors related to its development are essential to address this problem. The objective of this study was to analyze by sex and age the relationship of body fat with emotional eating (EE) and diet quality (DQ) in university population. A cross-sectional study was carried out in which 367 university medical students participated (65% women). Body fat percentage was measured through electrical bioimpedance. Emotional eating (EE) (emotion, family, indifference, culture and effect of food) was obtained from the EE scale and diet quality (DQ) from the Mexican Diet Quality Index (MDQI) (sufficient, balanced, complete, varied and innocuous), using a semi-quantitative food consumption frequency questionnaire. Multiple linear regression was used to identify which independent variables explain body fat percentage. Statistically significant differences were found between sexes, men had higher values than women in age, weight, height, and BMI (kg/m2), while women had a higher body fat percentage compared to men. Culture (p = .001) and effect of food (p = .006), factors of EE, predicted lower body fat percentage in men older than 20 years. It is necessary to implement health programs that are aimed at a healthy consumption of food through recreational activities and with the accompaniment of health professionals during university(AU)

Vantagens e desvantagens da terapia de exposição virtual para o transtorno de estresse pós-traumático / Advantages and disadvantages of virtual exposure therapy for posttraumatic stress disorder

As técnicas de exposição foram as mais desenvolvidas no estudo do tratamento do Transtorno de Estresse Pós-Traumático nos últimos anos. Porém, exposições ao vivo e através da imaginação apresentam importantes limitações, como a impossibilidade de expor o indivíduo a determinados eventos, dificuldade de acesso emocional às memórias traumáticas e importantes taxas de desistência durante o tratamento. A Terapia de Exposição Virtual tem se mostrado eficaz no tratamento do Transtorno de Estresse Pós-Traumático, mas apresenta desafios para sua operacionalização. Esta revisão se propôs a avaliar as vantagens e desvantagens do uso da Terapia de Exposição Virtual para o Transtorno de Estresse Pós-Traumático. Foram encontradas vantagens em relação à motivação para o tratamento, capacidade de engajamento emocional e controle do terapeuta sobre os estímulos associados ao trauma.Os custos e a necessidade de especialistas em programação são desvantagens importantes. São encontradas também contra indicações médicas e psiquiátricas.Os avanços tecnológicos têm diminuído desvantagens facilitando o uso e a criação de novos cenários virtuais, porém,sem eliminá-las por completo. (AU)

Exposure procedures were the most developed techniques in the study of treatments for Posttraumatic Stress Disorder in recent years. Nonetheless, imaginary and in vivo exposures present important limitations, such as the impossibility of exposing individuals to certain type of events, the difficulty in accessing emotions related to the traumatic memories and elevated dropoutrates during treatment. The Virtual Exposure Therapy has proven to be effective in the Posttraumatic Stress Disorder treatment, however there are challenges to its implementation. This review aims at evaluating the advantages and disadvantages of the use of Virtual Exposure Therapy in the treatment of Posttraumatic Stress Disorder. Results lead to conclusions that Virtual Exposure Therapy has advantagesregarding motivation fortreatment, emotional engagement, and therapist's control over the stimuli associated to the trauma. The costs and the need for programming experts are major disadvantages. There are also medical and psychiatric contraindications. Technological advances facilitate the use and creation of new virtual scenarios, reducing the disadvantages but without eliminating them. (AU)

Norepinefrina/vasopresina versus norepinefrina en pacientes politraumatizados con traumatismo craneoencefálico severo / Norepinephrine/vasopressin versus norepinephrine, in polytraumatized patients with severe traumatic brain injury / Norepinefrina/vasopressina vs norepinefrina em pacientes com traumatismo cranioencefálico grave

Resumen: Introducción: Los pacientes politraumatizados desarrollan una respuesta inflamatoria sistémica y sucesos quimiotácticos similares a los observados en procesos infecciosos; de éstos los que además presentan TCE severo requieren mantenimiento de presión arterial media (TAM) ≥ 90 mmHg, lo que conlleva la necesidad de dosis altas de vasopresores. Objetivo: Evaluar los efectos hemodinámicos de la administración de norepinefrina/vasopresina (grupo experimental) versus norepinefrina (grupo control) en pacientes politraumatizados con traumatismo craneoencefálico severo hemodinámicamente inestables. Material y métodos: Ensayo clínico controlado, no aleatorizado, abierto y de grupos paralelos. Resultados: Se obtuvo una muestra homogénea de 20 pacientes; ambos grupos mantuvieron las medianas de TAM similares [experimental 90 versus control 93 mmHg, p = 0.516]. Los efectos hemodinámicos a favor del grupo experimental fueron: presión arterial sistólica (PAS) [primera hora, p = .041], frecuencia cardiaca (FC) [primera hora p = .029] así como lactato [hora 5, p = .015]. En cuanto al balance hídrico, la mediana del grupo control fue de +1,516 mL versus +553 mL del grupo experimental [p = 0.579]. Conclusión: No existe diferencia significativa en la TAM en la reanimación y neuroprotección de ambos grupos. Hubo mejoría estadísticamente significativa en la TAS y FC en la primera hora a favor del grupo experimental.

Abstract: Introduction: The politraumatized patients develop a systemic inflammatory response and quimiotaxis cascade like the infectious diseases; from this kind of patients, those with severe traumatic brain injury, need to hold medium arterial pressure ≥ 90 mmHg, that triggers high doses of vasopressor. Objective: Evaluate hemodynamic repercussion, of infusion Vasopressin/Norepinephrine (experimental group) vs Norepinephrine (control group) in politraumatized patients with severe traumatic brain injury whom present hemodynamic instability. Material and methods: Controlled, non randomized and open trial, with parallel groups. Results: We got a standardized sample of 20 patients; both groups had the same median of mean arterial pressure (MAP) [experimental group 90 versus control group 93 mmHg, p = 0.516]. There were better hemodynamic effect in experimental group, in systolic arterial pressure (SAP) [first hour, p = .041], heart rate (HR) [first hour p = .029], and lactate [hour 5, p = .015]. The fluid balance's median in control group was +1,516 mL versus +553 mL in experimental group [p = 0.579]. Conclusion: There was no significant difference in MAP of both groups, in reanimation period either neurological protection therapy. There was statistically significant improvement in SAP and HR, in experimental group.

Resumo: Introdução: Os pacientes politraumatizados desenvolvem uma resposta inflamatória sistêmica e eventos quimiotáticos semelhantes aos observados em processos infecciosos; destes, os que además apresentam TCE grave requerem manter a pressão arterial média (PAM) ≥ 90 mmHg, o que leva à necessidade de altas doses de vasopressores. Objetivo: Avaliar os efeitos hemodinâmicos da administração de norepinefrina/vasopressina (grupo experimental) contra norepinefrina (grupo controle), em pacientes politraumatizado com traumatismo cranioencefálico grave, que apresentam instabilidade hemodinâmica. Material e métodos: Ensaio clínico controlado, não randomizado, aberto e com grupos paralelos. Resultados: Obteve-se uma amostra homogênea de 20 pacientes; ambos os grupos mantiveram médias PAM similares [experimental 90 versus controle 93 mmHg, p = 0.516]; Os efeitos hemodinâmicos a favor do grupo experimental foram: pressão arterial sistólica (PAS) [1o hora, p = .041], freqüência cardíaca (FC) [1o hora p = 0.029], bem como lactato [5o, p = 0.015]; Em relação ao balanço hídrico, a mediana do grupo controle foi +1,516 ml vs + 553 ml do grupo experimental [p = 0.579]. Conclusão: Não há diferença significativa na PAM, na ressuscitação e neuroproteção de ambos os grupos. Houve melhora estatisticamente significativa na PAS e FC na primeira hora a favor do grupo experimental.

Detection, treatment and prevention programs for gestational diabetes mellitus: The St Carlos experience / Programas de detección, tratamiento y prevención de la diabetes mellitus gestacional: la experiencia de San Carlos

Gestational diabetes mellitus (GDM) increases the risk of adverse events in pregnancy and jeopardizes long-term health of the mother and offspring. There is currently no consensus as to what screening strategies improve the efficiency of GDM diagnosis. Which criteria should be used? Is the one-step or two-step procedure better? There is no agreement as to what the best dietary approach in the treatment of GDM is. In addition, different nutritional interventions have been studied in the prevention of GDM. The Mediterranean diet seems to be effective in preventing GDM and other maternofoetal outcomes. We review herein our experience using the one-step criteria for GDM screening; the treatment and prevention strategies used; and the overall impact of nutrition on maternofoetal health

La diabetes gestacional (DG) incrementa el riesgo de tener eventos adversos durante el embarazo, y también afecta a la salud materna y de la descendencia a largo plazo. En la actualidad no existe un consenso sobre qué estrategia de cribado es más eficaz para el diagnóstico de la DG. ¿Qué criterios se deberían utilizar? ¿Es mejor hacerlo en un solo paso o en 2? Tampoco existe un acuerdo universal sobre cuál es el mejor tratamiento nutricional ni qué intervención nutricional es la más adecuada para su prevención. La dieta mediterránea parece ser las más efectiva en la prevención no solo de la DG, sino que también de otros eventos adversos materno-fetales. En este artículo revisamos la experiencia de nuestro grupo en la aplicación de los criterios diagnósticos de un solo paso para la DG; las estrategias empleadas en el tratamiento y prevención de la DG, y del impacto global que tiene la alimentación sobre la salud materno-fetal