Clustered Cardiometabolic Risk and the "Fat but Fit Paradox" in Adolescents: Cross-Sectional Study.

The "fat but fit paradox" states that people who are fit have a lower cluster cardiometabolic risk (CCMR), even if they are overweight or obese. Therefore, the objective was to investigate the CCMR between four categories based on the "fat but fit paradox" variable, in different fitness categories-cardiorespiratory fitness, muscular fitness, and physical fitness-in adolescents. Body composition, cardiorespiratory fitness, muscle fitness, blood samples, and blood pressure were assessed in 230 adolescents, and cardiometabolic risk and three different "fat but fit paradox" variables were calculated. Participants with a higher CRF exhibited a lower CCMR within their body mass index (BMI) category (p < 0.05). Participants with a high BMI and high muscular fitness showed a lower CCMR than participants with a low muscular fitness and a similar BMI, or low BMI and low muscular fitness (p < 0.05). When both variables, CRF and muscular fitness, were combined, their effectabove CCMR increased (p < 0.05). Across all fitness categories, the fat and unfit group, whether considered individually or combined, exhibited the highest risk of CCMR (p < 0.05). This study confirms the "fat but fit paradox" in different physical fitness categories, showing the importance of both CRF and muscular fitness as predictors of CCMR, with the combination of both variables showing a greater agreement.

Researchers' sex/gender identity influences how sex/gender question is investigated in neuroscience: an example from an OHBM meeting.

Gender inequality and diversity in STEM is a challenging field of research. Although the relation between the sex/gender of the researcher and the scientific research practices has been previously examined, less interest has been demonstrated towards the relation between sex/gender of the researcher and the way sex/gender as a variable is explored. Here, we examine, from a neurofeminist perspective, both questions: whether sex/gender identity is related to the examination of sex/gender as a variable and whether different approaches towards examining sex/gender are being used in different topics of study within neuroscience. Using the database of submitted posters to the Organization of Human Brain Mapping 2022 annual conference, we identified abstracts examining a sex/gender-related research question. Among these target abstracts, we identified four analytical categories, varying in their degree of content-related complexity: (1) sex/gender as a covariate, (2) sex/gender as a binary variable for the study of sex/gender differences, (3) sex/gender with additional biological information, and (4) sex/gender with additional social information. Statistical comparisons between sex/gender of researcher and the target abstract showed that the proportion of abstracts from Non-binary or Other first authors compared to both Women and Men was lower for all submitted abstracts than for the target abstracts; that more researchers with sex/gender-identity other than man implemented analytical category of sex/gender with additional social information; and, for instance, that research involving cognitive, affective, and behavioural neuroscience more frequently fit into the sex/gender with additional social information-category. Word cloud analysis confirmed the validity of the four exploratorily identified analytical categories. We conclude by discussing how raising awareness about contemporary neurofeminist approaches, including perspectives from the global south, is critical to neuroscientific and societal progress.

Clinical, Functional, and Nutritional Efficacy of a Glutamine-Enriched Oligomeric Diet in Patients with Rectal Cancer.

AIMS: This work aims to evaluate the efficacy of nutritional supplementation with a glutamine-enriched oligomeric diet (GEOD) compared to a standard polymeric diet (SPD) in terms of oncology treatment-related diarrhea (OTRD) (frequency and consistency of stools), gastrointestinal toxicity, and functional and nutritional progress. METHODS: This prospective cohort study compared two groups of patients with rectal cancer in treatment with neoadjuvant chemotherapy and radiotherapy who were at risk of malnutrition. Patients were randomized to receive either 400 ml of GEOD or of SPD from the start of radiotherapy to 30 days after its completion. RESULTS: Eighty patients were recruited, 40 per arm. The GEOD arm had improved stool consistency and a greater reduction in the number of stools compared to the SPD arm (p < 0.001). The relative risk (RR) of developing diarrhea in the GEOD arm was 0.059 (95% CI 0.015-0.229). There was a reduced risk of developing intestinal mucositis in the GEOD arm compared to the SPD arm [RR 0.202 (95% CI 0.102 - 0.399)]. The GEOD arm had greater improvements in functional and nutritional status (p < 0.001). CONCLUSIONS: GEOD had a protective effect in terms of the development of gastrointestinal toxicity associated with chemotherapy and radiotherapy treatment in patients with rectal cancer.

Real-life evidence about the use of intravenous brivaracetam in urgent seizures: The BRIV-IV study.

PURPOSE: Urgent seizures are a medical emergency for which new therapies are still needed. This study evaluated the use of intravenous brivaracetam (IV-BRV) in an emergency setting in clinical practice. METHODS: BRIV-IV was a retrospective, multicenter, observational study. It included patients ≥18 years old who were diagnosed with urgent seizures (including status epilepticus (SE), acute repetitive seizures, and high-risk seizures) and who were treated with IV-BRV according to clinical practice in 14 hospital centers. Information was extracted from clinical charts and included in an electronic database. Primary effectiveness endpoints included the rate of IV-BRV responder patients, the rate of patients with a sustained response without seizure relapse in 12 h, and the time between IV-BRV administration and clinical response. Primary safety endpoints were comprised the percentage of patients with adverse events and those with adverse events leading to discontinuation. RESULTS: A total of 156 patients were included in this study. The mean age was 57.7 ± 21.5 years old with a prior diagnosis of epilepsy for 57.1% of patients. The most frequent etiologies were brain tumor-related (18.1%) and vascular (11.2%) epilepsy. SE was diagnosed in 55.3% of patients. The median time from urgent seizure onset to IV treatment administration was 60.0 min (range: 15.0-360.0), and the median time from IV treatment to IV-BRV was 90.0 min (range: 30.0-2400.0). Regarding dosage, the mean bolus infusion was 163.0 ± 73.0 mg and the mean daily dosage was 195.0 ± 87.0 mg. A total of 77.6% of patients responded to IV-BRV (66.3% with SE vs. 91% other urgent seizures) with a median response time of 30.0 min (range: 10.0-60.0). A sustained response was achieved in 62.8% of patients. However, adverse events were reported in 14.7%, which were predominantly somnolence and fatigue, with 4.5% leading to discontinuation. Eighty-six percent of patients were discharged with oral brivaracetam. CONCLUSION: IV-BRV in emergency settings was effective, and tolerability was good for most patients. However, a larger series is needed to confirm the outcomes.

Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

BACKGROUND: Colorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for approximately 5% of CRC cases, with Lynch syndrome and familial adenomatous polyposis being the most prevalent forms. Scientific efforts are focused on the discovery of new candidate genes associated with CRC and new associations of phenotypes with well-established cancer-related genes. BRCA1-associated ring domain (BARD1) gene deleterious germline variants are associated with a moderate increase in the relative risk of breast cancer, but their association with other neoplasms, such as CRC, remains unclear. CASE PRESENTATION: We present the case of a 49-year-old male diagnosed with rectal adenocarcinoma whose maternal family fulfilled Amsterdam clinical criteria for Lynch syndrome. Genetic test confirmed the presence in heterozygosis of a germline pathogenic deletion of exons 8-11 in BARD1 gene. The predictive genetic study of the family revealed the presence of this pathogenic variant in his deceased cancer affected relatives, confirming co-segregation of the deletion with the disease. CONCLUSIONS: To the best of our knowledge, this is the first published work in which this BARD1 deletion is detected in a family with familial colorectal cancer type X (FCCTX) syndrome, in which the clinical criteria for Lynch syndrome without alteration of the DNA mismatch repair (MMR) system are fulfilled. Whether this incidental germline finding is the cause of familial colorectal aggregation remains to be elucidated in scientific forums. Patients should be carefully assessed in specific cancer genetic counseling units to account for hypothetical casual findings in other genes, in principle unrelated to the initial clinical suspicion, but with potential impact on their health.

New approaches in the nutritional treatment of advanced chronic kidney disease.

INTRODUCTION: Patients with advanced chronic kidney disease (ACKD) have a high prevalence of malnutrition. The dietary restrictions that we usually apply in terms of macro and micronutrients force our patients to follow dietary guidelines that deviate from healthy patterns. OBJETIVES: To determine if a personalized nutritional intervention program, minimizing the usual restrictions would be justified in case it improved the evolution of kidney disease compared to standard treatment. SECUNDARY OBJETIVES: To determine changes in nutrient intakes and in anthropometric and biochemical parameters, as well as quantify episodes of hyperkalemia. MATERIAL AND METHODS: A single-center, randomized and controlled educational intervention clinical trial was conduct in patients from the ERCA outpatients clinic at the Complejo Hospitalario Universitario de Albacete. 75 patients were included, assigning 35 to a Control group and 40 to the Intervention group with 1-year follow-up. The nutritional status was determined using anthropometric data, body composition by Bioimpedance, blood and urine biochemical parameters and a 24-h recall questionnaire. The nutritional intervention was carried out in three different ways: individual, collective and telephone recall. RESULTS: At the beginning of the study, the BMI showed a situation of weight excess with a mean of 28.83 kg/m2 (5.4) in men and 26.96 kg/m2 (4.09) in women. 70% of our patients had overweight. The abdominal circumference was 105.3 cm (10.2) and 92.3 cm (13.7) for men and women respectively without significant changes throughout the study. The percentage of fat mass (FM) was high in both groups for men and women throughout the study. We did not find biochemical parameters of malnutrition and only significant differences were observed in glomerular filtration rate (GFR), which increased in the intervention group. No patient presented any episodes of hyperkalemia during the study. The energy intake in both groups showed an inadequate distribution of macronutrients with a poor intake of carbohydrates (CH) that was supplemented with an excess of fat. In the case of micronutrients, we did observe an increase in potassium and fiber intakes with a decrease in sodium and phosphorus in the intervention group. CONCLUSIONS: Malnutrition is not exclusively an intake defficit and encompasses both the problems derived from a deficit and an excess of nutrients intake. Un to 70% of our patients showed weight excess and a fat mass higher than desirable. The implementation of an individualized nutritional education program, including a vegetables and fiber rich diet, less atherogenic, not only did not cause electrolyte alterations but also slowed the progression of kidney disease.

Tooth Bleaching of Discolorations Caused by Hydraulic Cements in Regenerative Endodontic Treatment: A 3-Year In Vitro Study.

This study aimed to evaluate the color change caused by hydraulic cements after 3 years in vitro by simulating their use in regenerative endodontic treatment (RET) and to quantify the color change after external bleaching with 40% hydrogen peroxide at 1, 6, and 12 months of follow-up. Fifty teeth were treated simulating RET. Samples were distributed according to the hydraulic cement to be used (n = 10 per group): negative control (no cement), ProRoot-MTA, MM-MTA, TotalFill BC-RRM, or Biodentine. Three years after RET, two sessions of external bleaching with Opalescence Boost were performed. The color was measured in the cervical and incisal halves of the teeth at different time points: baseline, 3 years after performing RET, and after 1, 6, and 12 months after bleaching. The ΔL, Δa, and Δb were determined. A generalized linear model was used to compare color considering group and time. The ΔEab and the ΔE00 were calculated and the acceptability in color change was determined. Three years after RET, a reduction in lightness (negative ΔL values) was found in all groups. These values significantly increased 1 month after bleaching in all groups (p < 0.05) and reversed at 6 months. One month after bleaching, ΔE00 values (color difference tolerance (CIEDE2000)) ranged from very good (>3.6 ≤ 5.4) to excellent (>5.4). One year after bleaching, the color reverted to values similar to those found 3 years after RET. All groups became darker after RET. The color recovered and even improved compared with the baseline measurement after one month of bleaching but did not remain stable over time.

Exploring the Risk of Suicide in Real Time on Spanish Twitter: Observational Study.

BACKGROUND: Social media is now a common context wherein people express their feelings in real time. These platforms are increasingly showing their potential to detect the mental health status of the population. Suicide prevention is a global health priority and efforts toward early detection are starting to develop, although there is a need for more robust research. OBJECTIVE: We aimed to explore the emotional content of Twitter posts in Spanish and their relationships with severity of the risk of suicide at the time of writing the tweet. METHODS: Tweets containing a specific lexicon relating to suicide were filtered through Twitter's public application programming interface. Expert psychologists were trained to independently evaluate these tweets. Each tweet was evaluated by 3 experts. Tweets were filtered by experts according to their relevance to the risk of suicide. In the tweets, the experts evaluated: (1) the severity of the general risk of suicide and the risk of suicide at the time of writing the tweet (2) the emotional valence and intensity of 5 basic emotions; (3) relevant personality traits; and (4) other relevant risk variables such as helplessness, desire to escape, perceived social support, and intensity of suicidal ideation. Correlation and multivariate analyses were performed. RESULTS: Of 2509 tweets, 8.61% (n=216) were considered to indicate suicidality by most experts. Severity of the risk of suicide at the time was correlated with sadness (ρ=0.266; P<.001), joy (ρ=-0.234; P=.001), general risk (ρ=0.908; P<.001), and intensity of suicidal ideation (ρ=0.766; P<.001). The severity of risk at the time of the tweet was significantly higher in people who expressed feelings of defeat and rejection (P=.003), a desire to escape (P<.001), a lack of social support (P=.03), helplessness (P=.001), and daily recurrent thoughts (P=.007). In the multivariate analysis, the intensity of suicide ideation was a predictor for the severity of suicidal risk at the time (ß=0.311; P=.001), as well as being a predictor for fear (ß=-0.009; P=.01) and emotional valence (ß=0.007; P=.009). The model explained 75% of the variance. CONCLUSIONS: These findings suggest that it is possible to identify emotional content and other risk factors in suicidal tweets with a Spanish sample. Emotional analysis and, in particular, the detection of emotional variations may be key for real-time suicide prevention through social media.

New approaches in the nutritional treatment of advanced chronic kidney disease. / Nuevo enfoque en el tratamiento nutricional de la enfermedad renal crónica avanzada.

INTRODUCTION: Patients with advanced chronic kidney disease (ACKD) have a high prevalence of malnutrition. The dietary restrictions that we usually apply in terms of macro and micronutrients force our patients to follow dietary guidelines that deviate from healthy patterns. OBJECTIVES: To determine if a personalized nutritional intervention program, minimizing the usual restrictions would be justified in case it improved the evolution of kidney disease compared to standard treatment. SECONDARY OBJECTIVES: To determine changes in nutrient intakes and in anthropometric and biochemical parameters, as well as quantify episodes of hyperkalemia. MATERIAL AND METHODS: A single-center, randomized and controlled educational intervention clinical trial was conduct in patients from the ERCA outpatients clinic at the Complejo Hospitalario Universitario de Albacete. 75 patients were included, assigning 35 to a Control group and 40 to the Intervention group with 1-year follow-up. The nutritional status was determined using anthropometric data, body composition by Bioimpedance, blood and urine biochemical parameters and a 24-h recall questionnaire. The nutritional intervention was carried out in three different ways: individual, collective and telephone recall. RESULTS: At the beginning of the study, the BMI showed a situation of weight excess with a mean of 28.83 kg/m2 (5.4) in men and 26.96 kg/m2 (4.09) in women. 70% of our patients had overweight. The abdominal circumference was 105.3 cm (10.2) and 92.3 cm (13.7) for men and women respectively without significant changes throughout the study. The percentage of fat mass (FM) was high in both groups for men and women throughout the study. We did not find biochemical parameters of malnutrition and only significant differences were observed in glomerular filtration rate (GFR), which increased in the intervention group. No patient presented any episodes of hyperkalemia during the study. The energy intake in both groups showed an inadequate distribution of macronutrients with a poor intake of carbohydrates (CH) that was supplemented with an excess of fat. In the case of micronutrients, we did observe an increase in potassium and fiber intakes with a decrease in sodium and phosphorus in the intervention group. CONCLUSIONS: Malnutrition is not exclusively an intake deficit and encompasses both the problems derived from a deficit and an excess of nutrients intake. Un to 70% of our patients showed weight excess and a fat mass higher than desirable. The implementation of an individualized nutritional education program, including a vegetables and fiber rich diet, less atherogenic, not only did not cause electrolyte alterations but also slowed the progression of kidney disease.

Correction: Testing strategic pluralism: The roles of attractiveness and competitive abilities to understand conditionality in men's short-term reproductive strategies.

[This corrects the article DOI: 10.1371/journal.pone.0237315.].

Efficacy and tolerability of perampanel as a first add-on therapy with different anti-seizure drugs.

PURPOSE: To investigate the efficacy and tolerability of perampanel (PER) when administered as a first add-on therapy to patients with focal epilepsy or idiopathic generalized epilepsy (IGE) taking one other antiseizure drug (ASD). METHODS: This multicentre, retrospective, one-year observational study collected data from patients (≥12 years) who initiated treatment with PER as first add-on therapy. Patients had to be experiencing inadequate seizure control on ASD monotherapy and tried ≤3 ASD monotherapies before initiating PER. Multivariate logistic regression analyses were performed, adjusted for the number and type of previous seizures, duration and aetiology of epilepsy. RESULTS: Of the 149 patients included in the study (mean age 41 years; 54.4 % male), 118 (79.2 %) were still receiving PER as first add-on treatment after 12 months. Mean PER dose was 6.2 mg/day. At 12 months, 45.6 % were seizure-free and 84.6 % responders. A significant difference in seizure freedom rate was found between patients with IGE and patients with focal epilepsy, but not in responders. Reduced seizure control was observed when PER was administered with strong enzyme-inducing ASDs; conversely, increased seizure control was seen when the same dose of PER was combined with enzyme-inhibiting ASDs. The most frequent adverse events were dizziness (15.4 %), irritability (14.1 %) and drowsiness (14.1 %); no differences in tolerance were observed among different combinations. CONCLUSION: PER demonstrated a good efficacy and safety profile when used as a first add-on therapy in patients who did not respond to monotherapy. PER dose adjustments may optimize seizure control when combined with strong enzyme-inducing or enzyme-inhibiting ASDs.

Testing strategic pluralism: The roles of attractiveness and competitive abilities to understand conditionality in men's short-term reproductive strategies.

The decision to allocate time and energy to find multiple sexual partners or raise children is a fundamental reproductive trade-off. The Strategic Pluralism Hypothesis argues that human reproductive strategies are facultatively calibrated towards either investing in mating or parenting (or a mixture), according to the expression of features dependent on the individual's condition. This study seeks to test predictions derived from this hypothesis in a sample of 242 young men (M ± SD = 22.12 ± 3.08) from Chile's 5th Region (33Ö¯ south latitude). Specifically, two predictions were considered that raise questions about the relationship between traits related to physical and psychological attractiveness (fluctuating facial asymmetry and self-perception of attractiveness) and competitive skills (baseline testosterone and self-perception of fighting ability) with short-term reproductive strategies. Our results indicate that psychological features related to the self-perception of physical attractiveness are related to short-term reproductive strategies. However, no evidence was found that fluctuating facial asymmetry, basal levels of testosterone and self-perception of fighting ability were related to short-term reproductive strategies. These results support the existing evidence of the importance of physical attractiveness in calibrating men's reproductive strategies but cast doubts about the role of fluctuating facial asymmetry. They also suggest that traits related to physical attractiveness, in comparison to competitive capabilities, play a more important role in calibrating men's short-term reproductive strategies.

Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7.

Monosomy 7 [-7] and/or partial loss of chromosome 7 [del(7q)] are associated with poor and intermediate prognosis, respectively, in myelodysplastic syndromes (MDS), but somatic mutations may also play a key complementary role. We analyzed the impact on the outcomes of deep targeted mutational screening in 280 MDS patients with -7/del(7q) as isolated cytogenetic abnormality (86 with del(7q) and 194 with -7). Patients with del(7q) or -7 had similar demographic and disease-related characteristics. Somatic mutations were detected in 79% (93/117) of patients (82% in -7 and 73% in del(7q) group). Median number of mutations per patient was 2 (range 0-8). There was no difference in mutation frequency between the two groups. Patients harbouring ≥2 mutations had a worse outcome than patients with <2 or no mutations (leukaemic transformation at 24 months, 38% and 20%, respectively, p = 0.044). Untreated patients with del(7q) had better overall survival (OS) compared with -7 (median OS, 34 vs 17 months, p = 0.034). In multivariable analysis, blast count, TP53 mutations and number of mutations were independent predictors of OS, whereas the cytogenetic subgroups did not retain prognostic relevance. This study highlights the importance of mutational analysis in terms of prognosis in MDS patients with isolated -7 or del(7q).

Efficacy and manner of execution of the serve in top-level womens beach volleyball players / Eficácia e maneira de execução do serviço em jogadoras de voleibol de praia de alto nível

ABSTRACT The study of the manner of execution (technique, and spatial aspects) can provide useful information to understand the game dynamics in beach volleyball and to obtain references values for the analysis of the game and the establishment of training goals. The aim of the study was to determine the influence of the manner of execution on serve and rally performance in elite women's beach volleyball players. A total of 3,009 serves from 44 women's players were analyzed. The variables studied were: serve technique, serve zone, serve destination, serve performance, and rally performance. An observational punctual, nomothetic, multidimensional, and intragroup design was used. A descriptive and inferential analysis of the data (Chi-Square Test) was done using SPSS v.21.0 software. The level of significance was set at p < .05. The manner of execution influences the serve performance. The jump float serve was the most used. The most effective destination was the zone between players, probability due to the players' displacement and interference between them. An absence of association between serve technique and rally performance was found. These findings showed possible connections between the way of executing the serve with the following actions done by the players and the players' strategies to control their physical load. These values may be useful to guide to players training, or to evaluate players in competition.

RESUMO O estudo da forma de execução (técnica e aspectos espaciais) pode fornecer informações úteis para compreender a dinâmica do jogo no vôlei de praia e obter valores de referência para a análise do jogo e o estabelecimento de metas de treinamento. O objetivo do estudo foi determinar a influência da forma de execução no desempenho de saque e rali em jogadores de vôlei de praia de alto nível. Um total de 3.009 saques de 44 jogadoras de alto nível foram analisados. As variáveis ​​estudadas foram: técnica de saque, zona de saque, destino do saque, desempenho de saque e desempenho de rali. Um desenho observacional pontual, nomotético, multidimensional e intragrupo foi utilizado. Foi realizada uma análise descritiva e inferencial dos dados (Teste Qui-Quadrado) utilizando o software SPSS v.21.0. O nível de significância foi estabelecido em p <0,05. A maneira de execução influencia o desempenho do saque. O saque flutuante de salto foi o mais usado. O destino mais efetivo foi a zona entre jogadoras, provavelmente devido ao deslocamento das jogadoras e a interferência entre elas. Não foi encontrada associação entre a técnica de saque e o desempenho de rally. Esses achados mostraram possíveis associações entre a maneira de executar o saque com as ações seguintes realizadas pelas jogadoras e as estratégias das jogadoras para controlar sua carga física. Esses valores podem ser úteis para orientar o treinamento de jogadoras ou avaliar jogadoras em competição de vôlei de praia.

[So doctor, what could I eat then?] / Pero, doctor, ¿entonces qué puedo comer?

INTRODUCTION: Introduction: the strict dietary recommendations we impose on patients with advanced chronic kidney disease (ACKD) have negative impact on quality of life. Objective: determine whether such restrictions are justified and if an educational program can improve health-related quality of life (HRQL) parameters. Methods: we carried out an educational intervention, single center, randomized, controlled clinical trial on ACKD outpatients in Albacete. Seventy-five patients were included, 35 in the control group and 40 in the intervention group. Nutritional assessment was based on the Subjetive Global Assessment (SGA) and body mass index (BMI). We used the SF-36 health questionnaire to measure HRQL. In the intervention group we carried out individual, collective and telephone nutritional interventions, adapting diet advice and restrictions in a personalized way. Results: malnutrition measured by Subjective Global Assessment (SGA) in the control group was 20%; meanwhile, in the intervention group it was 29.3% and it improved at the end of the study, but not significantly. BMI showed overweight with a mean of 28.83 kg/m² (DE: 5.4) and 26.96 kg/m² (DE: 4.09), respectively, and did not change throughout the study. The nutritional intervention improved the score in all the subscales except for body pain score. Besides, mental and physical components also improved their scores in the intervention group and worsened them in the control group (p < 0.001). Conclusions: quality of life can be improved in ACKD patients applying an educational nutrition program.

INTRODUCCIÓN: Introducción: las estrictas restricciones dietéticas que imponemos en la enfermedad renal crónica avanzada (ERCA) tienen un impacto negativo en la calidad de vida. Objetivo: determinar si estas restricciones están justificadas y si un programa de educación nutricional mejoraría los parámetros de calidad de vida relacionada con la salud (CVRS). Material y métodos: realizamos un ensayo clínico de intervención educativa, unicéntrico, randomizado y controlado en los pacientes de la consulta ERCA de Albacete. Se incluyeron 75 pacientes, 35 en el grupo control y 40 en el de intervención. Se realizó la valoración nutricional mediante valoración global subjetiva (VGS) e índice de masa corporal (IMC). Para medir la CVRS se empleó el cuestionario de salud SF-36. En el grupo intervención se realizó la intervención nutricional individual, colectiva y por recuerdo telefónico, adaptando a cada paciente el consejo dietético y ajustando las restricciones de forma personalizada. Resultados: la malnutrición medida por VGS fue del 20% en el grupo control y del 29,3% en el grupo intervención, donde mejoró aunque no fue significativo. El IMC mostró sobrepeso con una media de 28,83 (DE: 5,4) y 26,96 kg/m2 (DE: 4,09) respectivamente, sin cambios a lo largo del estudio. La intervención nutricional supuso una mejoría en las puntuaciones de todas las subescalas excepto en el dolor corporal. Además, los componentes físico y mental también mejoraron sus puntuaciones en el grupo intervención y empeoraron significativamente (p < 0,001) en el control. Conclusiones: la calidad de vida se puede mejorar en los pacientes con ERCA aplicando un programa de educación nutricional.

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.

BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. WDR73 pathogenic variants were described as the first genetic cause of GAMOS and, very recently, four novel causative genes, OSGEP, LAGE3, TP53RK, and TPRKB, have been identified. CASE PRESENTATION: We present the clinical and genetic characteristics of two unrelated infants with clinical suspicion of GAMOS who were born from consanguineous parents. Both patients showed a similar clinical presentation, with early-onset nephrotic syndrome, microcephaly, brain atrophy, developmental delay, axial hypotonia, and early fatality. We identified two novel likely disease-causing variants in the OSGEP gene. These two cases, in conjunction with the findings of a literature review, indicate that OSGEP pathogenic variants are associated with an earlier onset of nephrotic syndrome and shorter life expectancy than WDR73 pathogenic variants. CONCLUSIONS: Our findings expand the spectrum of pathogenic variants in the OSGEP gene and, taken in conjunction with the results of the literature review, suggest that the OSGEP gene should be considered the main known monogenic cause of GAMOS. Early genetic diagnosis of GAMOS is of paramount importance for genetic counseling and family planning.

A model for lymphocyte activation in open versus laparoscopic surgery in colorectal cancer patients in enhanced recovery after surgery (ERAS) protocols.

PURPOSE: Given the high mortality and morbidity associated with colon cancer worldwide and the advantages inherent to the use of the laparoscopy technique with respect to open surgery in oncological colorectal surgery, a study was designed to observe and compare the lymphocyte activation model between open surgery (OS) and laparoscopic surgery (LS) for this type of patient as part of an ERAS protocol. METHODS: A prospective study was conducted with 38 patients who underwent surgery due to colorectal disease and were included in an ERAS protocol. The patients were divided into two groups: G1 (patients who had undergone OS; n = 19) and G2 (patients who had undergone LS; n = 19). The lymphocyte activation model was studied at three times: immediately prior to surgery and on post-operative days 1 and 3 (POD0, POD1 and POD3). RESULTS: The Th lymphocyte activation markers studied (CD25, CD69, HLADR) exhibited a significantly higher mean value on POD0 for CD69 in OS than in LS (p = 0.037) and a significantly lower mean HLADR value on POD3 for OS than for LS (p = 0.040). No statistically significant differences were observed in either the evolution or in the mean values for the intracellular cytokines studied responsible for a Th1, Th2 or Th17 response. A Th1 response pattern was observed in both OS and LS. CONCLUSIONS: The lymphocyte activation model in OS and LS is a Th1 response in both cases. The findings for the Th lymphocyte activation markers could indicate a better preserved immunity in LS with respect to OS.

Sleep apnea syndrome and patent foramen ovale: a dangerous association in ischemic stroke?

BACKGROUND: The coexistence of patent foramen ovale (PFO) and sleep apnea syndrome (SAS) might be related to the pathogenesis of cryptogenic stroke (CS). We aimed to determine the prevalence of SAS in patients with cryptogenic stroke and PFO. METHODS: This is a prospective case-control study in which we included ischemic stroke patients consecutively admitted to our hospital's Acute Stroke Unit. Contrast transcranial Doppler (c-TCD) and sleep polygraphy within the first 72 h after stroke onset were performed to detect PFO and SAS. Demographic and clinical characteristics, time of stroke onset, score in the National Institute of Health Stroke Scale (NIHSS), and stroke subtype were registered. RESULTS: A total of 97 patients were studied. Overall, 76% were men, with a mean ± SD age of 61 ± 13 years, and an NIHSS of 5 ± 5. Subtype of stroke was cryptogenic (CS) in 28 (29%) and non-CS in 69 (71%) of patients. PFO was more frequent among patients with CS (64% vs 29%, p = 0.002) and without SAS (60% vs 32%, p = 0.013). SAS was diagnosed in 74% of the whole group, with a higher prevalence in patients with known stroke etiology (83% vs 53%, p = 0.003). Finally, the prevalence of SAS and PFO coexistence was similar in patients with or without cryptogenic stroke (25% vs 22%, p = 1), and when comparing the group of patients with cryptogenic wake-up stroke to the other stroke patients (43% vs 21%, p = 0.35). CONCLUSIONS: According to our results, there is no evidence of an association of PFO and SAS in the pathogenesis of cryptogenic stroke.