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BACKGROUND: Patients with multiple sclerosis (MS) have to deal with a variable disease trajectory often associated with disability and productivity loss. OBJECTIVE: This study aimed to assess illness-related uncertainty and associated correlates in patients with relapsing-remitting multiple sclerosis (RRMS) beyond the near diagnosis phase. METHODS: We conducted a multicenter, non-interventional study including patients diagnosed with RRMS (2017 revised McDonald criteria) and a disease duration of 3 to 8 years. Perceived uncertainty was measured using the Mishel Uncertainty of Illness Scale (MUIS). Associations between the MUIS and different patient-based outcome measures were analyzed using Spearman's rank correlation. RESULTS: A total of 201 patients were studied (mean age (standard deviation): 38.7 (8.4) years, 71.4 % female). The median disease duration (interquartile range) was 6.0 (4.0-7.0) years and the median EDSS score was 1.0 (0.0-2.0). The mean MUIS score was 38.2 (10.8). Perceived uncertainty was positively correlated with fatigue (p < 0.001), symptom severity (p < 0.001), anxiety (p < 0.001), depressive symptoms (p < 0.001), and a threatening illness perception (p < 0.001), and negatively correlated with self-management (p < 0.001), self-efficacy (p < 0.001), processing speed (p < 0.001), knowledge of MS (p = 0.006), and quality of life (p < 0.001). CONCLUSION: Illness-related uncertainty was common in a population of mid-stage RRMS. Identifying uncertainty and its associated factors may be useful for implementing preventive strategies to help patients cope with the disease throughout life.

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BACKGROUND: Continued advances in haematopoietic cell transplantation (HCT) for children with non-malignant diseases (NMDs) have led to a growing population of survivors in whom late occurring toxic effects remain a challenge. We investigated the incidence of and risk factors for post-transplant toxicities in a contemporary cohort of children and adolescents undergoing HCT for NMDs. METHODS: In this retrospective cohort study, we extracted data from the Center for International Blood and Marrow Transplantation Research (CIBMTR) database to analyse timing and incidence of effects and risk factors associated with late effects of HCT for treatment of NMDs at age 21 years or younger. Late effects of interest were avascular necrosis, cataracts, congestive heart failure, myocardial infarction, diabetes, gonadal dysfunction, growth hormone deficiency, hypothyroidism, renal failure requiring dialysis, and neurological events (stroke and seizure). Cumulative incidence of each late effect was calculated at 5 years and 7 years after HCT. Risk factors were evaluated in Cox proportional hazards regression analyses. Main exposures were primary NMD, age, sex, ethnicity and race, insurance, donor and graft type, myoablative conditioning, total-body irradiation exposure, graft-versus-host disease (GVHD), and transplant year. Primary outcomes were rates, cumulative incidence probability (95% CI), and risk-factors for organ-specific late effects. FINDINGS: Between Jan 1, 2000, and Dec 31, 2017, 7785 patients aged 21 years or younger underwent HCT. 1995 patients were ineligible or did not consent to be included. 5790 patients from 171 centres were included in the analysis. 3505 (60·5%) of 5790 patients were male and 2285 (39·5%) were female. 2106 (36·4%) patients were White, 771 (13·3%) were Hispanic, and 773 (12·7%) were Black. 1790 (30·9%) patients were non-USA residents. Median age at HCT was 5·5 years (range 0·0-21·0). 1127 (19%) of 5790 patients had one late effect, and 381 (7%) had at least two. At 7 years post-HCT, the cumulative incidence probability was 1·9 (95% CI 1·5-2·3) for cataracts, 4·9 (4·3-5·6) for diabetes, 2·6 (2·1-3·1) for gonadal dysfunction, 3·2 (2·7-3·8) for hypothyroidism, 5·0 (4·4-5·7) for growth disturbance, 8·1 (7·4-8·9) for renal failure, 1·6 (1·3-2·0) for avascular necrosis, 0·6 (0·4-0·8) for congestive heart failure, 0·2 (0·1-0·3) for myocardial infarction, and 9·4 (8·6-10·2) for neurological effects. Age 10 years or older at HCT, unrelated donor source, total-body irradiation, and GVHD were identified as risk factors for long-term effects. INTERPRETATION: The findings highlight the need for, and access to, multidisciplinary and lifelong follow-up for children undergoing HCT for NMDs. As more children undergo treatment with cellular therapies for non-malignant conditions, further analyses of post-transplant data could increasingly guide treatment decisions and subsequent long-term surveillance. FUNDING: National Cancer Institute, National Heart, Lung and Blood Institute, National Institute of Allergy and Infectious Diseases, Health Resources and Services Administration, and Office of Naval Research.

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BACKGROUND: People with secondary progressive multiple sclerosis (pwSPMS) experience increasing disability, which impacts negatively on their health-related quality of life (HRQoL). Our aims were to assess the impact of secondary progressive multiple sclerosis (SPMS) on functional status and HRQoL and describe the clinical profile in this population. METHODS: DISCOVER is an observational, cross-sectional, multicenter study with retrospective data collection in real-world clinical practice in Spain. Sociodemographic and clinical variables, functional and cognitive scales, patient-reported outcomes (PROs), and direct healthcare, and non-healthcare and indirect costs were collected. RESULTS: A total of 297 evaluable pwSPMS with a EDSS score between 3-6.5 participated: 62.3 % were female and 18.9 % had active SPMS. At the study visit, 77 % of them presented an Expanded Disability Scale Score (EDSS) of 6-6.5. Nearly 40 % did not receive any disease-modifying treatment. Regarding the working situation, 61.6 % were inactive due to disability. PROs: 99.3 % showed mobility impairment in EuroQoL-5 Dimensions-5 Levels, and about 60 % reported physical impact on the Multiple Sclerosis Impact Scale-29. Fatigue was present in 76.1 %, and almost 40 % reported anxiety or depression. The Symbol Digit Modalities Test was used to assess cognitive impairment; 80 % of the patients were below the mean score. Participants who presented relapses two years before and had high EDSS scores had a more negative impact on HRQoL. PwSPMS with a negative impact on HRQoL presented a higher cost burden, primarily due to indirect costs. CONCLUSIONS: PwSPMS experience a negative impact on their HRQoL, with a high physical impact, fatigue, cognitive impairment, and a high burden of indirect costs.

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In Mexico, there are 29 native species of the genus Hymenocallis, where H. glauca is one of the most cultivated bulbous plants. It holds economic importance as it is commercialized as a potted plant and cut flower (Leszczyñska and Borys, 2001). In October 2023, field sampling was conducted in the Research Center in Horticulture and Native Plants (18°55'55" N, 98°24'02.8"W) of UPAEP University. H. glauca diseased plants were found in an area of 0.4 ha, with an incidence of 35% and an estimated severity of 45% on infected plants in vegetative stage. The symptoms included chlorosis of foliage, necrosis at the base of the stem, and soft rot with abundant white to gray mycelium and abundant production of black, irregular sclerotia of approximately 3.5 mm diameter. Finally, the plants wilted and died. The fungus was isolated from 40 symptomatic plants. Sclerotia were collected, disinfested with 3% NaOCl for one minute, rinsed with sterile distilled water (SDW), and plated on Petri dishes containing potato dextrose agar (PDA) with sterile forceps. Subsequently, a sterile dissecting needle was used to place fragments of mycelium directly on Petri dishes with PDA. Plates were incubated at 23 °C in dark for 7 days. One isolate was obtained from each diseased plant by the hyphal-tip method (20 isolates from sclerotia and 20 from mycelium). After 7 days, colonies had fast-growing, dense, and cottony-white aerial mycelium forming irregular sclerotia of 3.57 ± 0.59 mm (mean ± standard deviation, n=100). In each Petri dish there were produced 21.5 ± 7.9 sclerotia (mean ± standard deviation, n=40), after 11 days; these were initially white and gradually turned black. The isolates were tentatively identified as Sclerotinia sclerotiorum based on morphological characteristics (Saharan and Mehta 2008). Two representative isolates were chosen for molecular identification and genomic DNA was extracted by the CTAB protocol. The ITS region and the glyceraldehyde 3-phosphate dehydrogenase (G3PDH) gene were amplified and sequenced (Staats et al. 2005; White et al. 1990). The sequences of a representative isolate (SsHg3) were deposited in GenBank (ITS- PP094578; G3PDH- PP101843). BLAST analysis of the partial sequences ITS (519 bp), and G3PDH (950 bp) showed 100% similarity to S. sclerotiorum isolates (GenBank: MG249967, MW082601). Pathogenicity was confirmed by inoculating 30 H. glauca plants in vegetative stage grown in pots with sterile soil. Ten sclerotia were deposited at the base of the stem, 10 mm below the soil surface. As control treatment, SDW was applied to 10 plants. The plants were placed in a greenhouse at 23 °C and 90% relative humidity. After 17 days, all inoculated plants displayed symptoms similar to those observed in the field, while no symptoms were observed on the controls. The fungus was re-isolated from the inoculated plants as described above, fulfilling Koch's postulates. The pathogenicity tests were repeated three times. S. sclerotiorum has been reported causing white mold on other bulbous plants, like fennel (Foeniculum vulgare) in Korea (Choi et al. 2015). To our knowledge, this is the first report of S. sclerotiorum causing white mold on H. glauca in Mexico. Information about diseases affecting this plant is very limited, so this research is essential for developing integrated management strategies and preventing spread to other production areas.

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Purpose: Shared decision-making is critical in multiple sclerosis (MS) due to the uncertainty of the disease trajectory over time and the large number of treatment options with differing efficacy, safety and administration characteristics. The aim of this study was to assess patients' decisional conflict regarding the choice of a disease-modifying therapy and its associated factors in patients with mid-stage relapsing-remitting multiple sclerosis (RRMS). Methods: A multicenter, non-interventional study was conducted. Adult patients with a diagnosis of RRMS (2017 revised McDonald criteria) and disease duration of 3 to 8 years were included. The level of uncertainty experienced by a patient when faced with making a treatment choice was assessed using the 4-item Decisional Conflict Scale. A battery of patient-reported and clinician-rated measures was administered to obtain information on symptom severity, illness perception, illness-related uncertainty, regret, MS knowledge, risk taking behavior, preferred role in the decision-making process, cognition, and self-management. Patients were recruited during routine follow-up visits and completed all questionnaires online using electronic tablets at the hospital. A multivariate logistic regression analysis was conducted. Results: A total of 201 patients were studied. Mean age (Standard deviation) was 38.7 (8.4) years and 74.1% were female. Median disease duration (Interquartile range) was 6.0 (4.0-7.0) years. Median EDSS score was 1.0 (0-2.0). Sixty-seven (33.3%) patients reported a decisional conflict. These patients had lower MS knowledge and more illness uncertainty, anxiety, depressive symptoms, fatigue, subjective symptom severity, a threatening illness perception, and poorer quality of life than their counterparts. Lack of decisional conflict was associated with MS knowledge (Odds ratio [OR]=1.195, 95% CI 1.045, 1.383, p=0.013), self-management (OR=1.049, 95% CI 1.013, 1.093, p=0.018), and regret after a healthcare decision (OR=0.860, 95% CI 0.756, 0.973, p=0.018) in the multivariate analysis. Conclusion: Decisional conflict regarding the selection of a disease-modifying therapy was a common phenomenon in patients with mid-stage RRMS. Identifying factors associated with decisional conflict may be useful to implement preventive strategies that help patients better understand their condition and strengthen their self-management resources.

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OBJECTIVE: Frailty may be increased by menopause. Physical activity has been proposed to reduce frailty, but poor adherence and cost limit effectiveness. We aimed to investigate both the effectiveness against the frailty burden and the adherence rate of a multicomponent physical activity scheme partially managed by the participating women themselves. METHODS: Prospective controlled study consisting of a twice-weekly group physical activity scheme divided into two consecutive periods, one supervised by a health professional (12 wk) and the other supervised by the women themselves (36 wk). Group cohesion and mutual support during the patient-only period were aided by social networking via smartphones. Community-dwelling postmenopausal women were divided into a physical activity group (PAG = 126) and a usual activity control group (UAG = 126), both assessed at baseline and at the end of the study. Participants self-assigned to one of the two study arms. RESULTS: Overall, women in the PAG were more likely to improve their frailty status (60.2% vs 42.6%, P < 0.05). The frailty reversal rate from prefrail to robust was significantly higher in the PAG than in the UAG (34.04 vs 8.00%, P < 0.05). Logistic regression confirmed that women in the PAG were more likely to improve their frailty phenotype (odds ratio [OR], 9.12; 95% confidence interval [CI], 3.45-31.52; P < 0.001). Adherence, defined by participants attending 75% of sessions, was attained by 56.35% of women at 48 wk. CONCLUSION: A physical activity scheme implemented to improve frailty proved effective and attained acceptable adherence. Conditions in the peer-supervised 36-wk phase may increase sustainability.

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A multicenter study involving 204 adults with relapsing-remitting multiple sclerosis (RRMS) assessed the dimensionality and item characteristics of the Mishel-Uncertainty of Illness Scale (MUIS), a generic self-assessment tool. Mokken analysis identified two dimensions in the MUIS with an appropriate item and overall scale scalability after excluding nonclassifiable items. A refined 12-item MUIS, employing a grade response model, effectively discriminated uncertainty levels among RRMS patients (likelihood ratio test p-value = .03). These findings suggest the potential value of the 12-item MUIS as a reliable measure for assessing uncertainty associated with the course of illness in RRMS.

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ABSTRACT: There has been an increase in volume as well as an improvement in overall survival (OS) after hematopoietic cell transplantation (HCT) for hematologic disorders. It is unknown if these changes have affected racial/ethnic minorities equally. In this observational study from the Center for International Blood and Marrow Transplant Research of 79 904 autologous (auto) and 65 662 allogeneic (allo) HCTs, we examined the volume and rates of change of autoHCT and alloHCT over time and trends in OS in 4 racial/ethnic groups: non-Hispanic Whites (NHWs), non-Hispanic African Americans (NHAAs), and Hispanics across 5 2-year cohorts from 2009 to 2018. Rates of change were compared using Poisson model. Adjusted and unadjusted Cox proportional hazards models examined trends in mortality in the 4 racial/ethnic groups over 5 study time periods. The rates of increase in volume were significantly higher for Hispanics and NHAAs vs NHW for both autoHCT and alloHCT. Adjusted overall mortality after autoHCT was comparable across all racial/ethnic groups. NHAA adults (hazard ratio [HR] 1.13; 95% confidence interval [CI] 1.04-1.22; P = .004) and pediatric patients (HR 1.62; 95% CI 1.3-2.03; P < .001) had a higher risk of mortality after alloHCT than NHWs. Improvement in OS over time was seen in all 4 groups after both autoHCT and alloHCT. Our study shows the rate of change for the use of autoHCT and alloHCT is higher in NHAAs and Hispanics than in NHWs. Survival after autoHCT and alloHCT improved over time; however, NHAAs have worse OS after alloHCT, which has persisted. Continued efforts are needed to mitigate disparities for patients requiring alloHCT.

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OBJECTIVE: To explore the association between anxiety and frailty in community-dwelling postmenopausal women. METHODS: This was a cross-sectional study in which 390 postmenopausal women (aged 60-83 years) who were attending a comprehensive care program were surveyed between January 2018 and February 2020. Each participant was administered a validated Spanish version of the Hospital Anxiety and Depression Scale (HADS) to assess their anxiety status. Those scoring 8 or higher on the anxiety subscale of the HADS were indicative of anxiety. The assessment of frailty utilized the Fried's phenotype, with a diagnosis of frailty established if the participant met at least three out of the five criteria. Factors associated with frailty were analyzed using multivariate logistic regression. RESULTS: The mean age of participants was 70.08 years, with an average of 12.58 ± 3.19 years since menopause. Frailty was diagnosed in 43.85% of the total series, while anxiety was present in 41.08%, rising to 69.59% in participants with frailty. Neither body mass index, years since menopause, educational level, economic status, nor smoking habit demonstrated significant associations with frailty. Upon multivariate analysis, anxiety (OR 8.56), multimorbidity (OR 2.18), and age (OR 2.73) emerged as independently associated with frailty (p < .001, p = .005, and p < .001, respectively). CONCLUSIONS: Among postmenopausal women with frailty, anxiety was detected in over two thirds of cases and was independently associated with frailty. This underscores the relevance of implementing anxiety screening in comprehensive care programs for postmenopausal women, with the goal of improving frailty through anxiety diagnosis and treatment.

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Brain physiology and morphology are vulnerable to chronic stress, impacting cognitive performance and behavior. However, functional compounds found in food may alleviate these alterations. White quinoa (Chenopodium quinoa, Wild) seeds contain a high content of n-3 fatty acids, including alpha-linolenic acid. This study aimed to evaluate the potential neuroprotective role of a quinoa-based functional food (QFF) in rats. Prepubertal male Sprague-Dawley rats were fed with rat chow or QFF (50% rat chow + 50% dehydrated quinoa seeds) and exposed or not to restraint stress protocol (2 h/day; 15 days). Four experimental groups were used: Non-stressed (rat chow), Non-stressed + QFF, Stressed (rat chow) and Stressed + QFF. Weight gain, locomotor activity (open field), anxiety (elevated plus maze, light-dark box), spatial memory (Y-maze), and dendritic length in the hippocampus were measured in all animals. QFF intake did not influence anxiety-like behaviors, while the memory of stressed rats fed with QFF improved compared to those fed with rat chow. Additionally, QFF intake mitigated the stress-induced dendritic atrophy in pyramidal neurons located in the CA3 area of the hippocampus. The results suggest that a quinoa-supplemented diet could play a protective role in the memory of chronically stressed rats.

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Introducción. Una fístula es una conexión anormal entre dos superficies epitelizadas. Cerca del 80 % de las fístulas entero-cutáneas son de origen iatrogénico secundarias a cirugía, y un menor porcentaje se relacionan con traumatismos, malignidad, enfermedad inflamatoria intestinal o isquemia. La morbilidad y las complicaciones asociadas pueden ser significativas, como la desnutrición, en la que intervienen múltiples factores. Métodos. Se realizó una búsqueda de la literatura en las bases de datos de PubMed, Google Scholar y SciELO, utilizando las palabras claves descritas y se seleccionaron los artículos más relevantes de los últimos años. Resultados. La clasificación de las fístulas se basa en su anatomía, su gasto o secreción diaria y su localización. Existe una tríada clásica de las complicaciones: sepsis, desnutrición y anomalías electrolíticas. El control del gasto de la fístula, el drenaje adecuado de las colecciones y la terapia antibiótica son claves en el manejo precoz de estos pacientes. Los estudios recientes hacen hincapié en que la sepsis asociada con la desnutrición son las principales causas de mortalidad. Conclusiones. Esta condición representa una de las complicaciones de más difícil y prolongado tratamiento en cirugía abdominal y colorrectal, y se relaciona con importantes tasas de morbilidad, mortalidad y altos costos para el sistema de salud. Es necesario un tratamiento multidisciplinario basado en la reanimación con líquidos, el control de la sepsis, el soporte nutricional y el cuidado de la herida, entre otros factores.

Introduction. A fistula is an abnormal connection between two epithelialized surfaces. About 80% of enterocutaneous fistulas are of iatrogenic origin secondary to surgery, and a smaller percentage are related to trauma, malignancy, inflammatory bowel disease or ischemia. The associated morbidity and complications can be significant, such as malnutrition, in which multiple factors intervene. Methods. A literature search was carried out in the PubMed, Google Scholar and SciELO databases using the keywords described and the most relevant articles from recent years were selected. Results. The classification of fistulas is based on their anatomy, their daily secretion output, and their location. There is a classic triad of complications: sepsis, malnutrition and electrolyte abnormalities. Control of fistula output, adequate drainage of the collections and antibiotic therapy are key to the early management of these patients. Recent studies emphasize that sepsis associated with malnutrition are the main causes of mortality. Conclusions. This condition represents one of the most difficult and prolonged complications to treat in abdominal and colorectal surgery, and is related to significant rates of morbidity, mortality and high costs for the health system. Multidisciplinary treatment based on fluid resuscitation, sepsis control, nutritional support, and wound care, among other factors, is necessary.

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It is well known that rodenticides are widely used, and there are multiple routes by which they can reach non-target wildlife species. Specifically, in the Canary Islands, a high and concerning incidence of these compounds has been reported. However, in this scenario, reptiles remain one of the least studied taxa, despite their potential suitability as indicators of the food chain and environmental pollution has been noted on several occasions. In this context, the California Kingsnake (Lampropeltis Californiae), widely distributed on the island of Gran Canaria, occupies a medium trophic level and exhibits feeding habits that expose it to these pollutants, could be studied as a potential sentinel of exposure to these compounds. For this reason, 360 snake livers were analyzed by LC-MS/MS. Similarly, 110 livers of birds of prey were sampled. Thus, we present the analysis of 10 anticoagulant rodenticides (warfarin, diphacinone, chlorophacinone, coumachlor, coumatetralyl, brodifacoum, bromadiolone, difethialone, difenacoum and flocoumafen) in both data series; snakes, and raptors. Furthermore, this dataset includes biological data (weight, length, sex, colour, and design pattern), geographic data (distribution area and municipalities) and necropsy findings that could be of interest for a better understanding of this snake species and for future studies.

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In this study, a novel application of synchrotron X-ray nanotomography based on high-resolution full-field transmission X-ray microscopy for characterizing the structure and morphology of micrometric hollow polymeric fibers is presented. By employing postimage analysis using an open-source software such as Tomviz and ImageJ, various key parameters in fiber morphology, including diameter, wall thickness, wall thickness distribution, pore size, porosity, and surface roughness, were assessed. Electrospun polycaprolactone fibers with micrometric diameters and submicrometric features with induced porosity via gas dissolution foaming were used to this aim. The acquired synchrotron X-ray nanotomography data were analyzed using two approaches: 3D tomographic reconstruction and 2D radiographic projection-based analysis. The results of the combination of both approaches demonstrate unique capabilities of this technique, not achievable by other available techniques, allowing for a full characterization of the internal and external morphology and structure of the fibers as well as to obtain valuable qualitative insights into the overall fiber structure.

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Introducción: La pandemia por COVID-19 ha incrementado la prevalencia de la ansiedad, la depresión y el suicidio en la mayoría de los países. La utilización de herramientas como Google Trends ha mostrado su eficacia en el seguimiento de diferentes enfermedades y trastornos mentales, con la posibilidad de mejorar la respuesta sanitaria. En esta investigación se analizó la evolución de las tendencias de búsqueda de los términos “Ansiedad”, “Depresión” y “Suicidio” en las comunidades autónomas españolas entre 2019 y 2022. Método: Se utilizó la herramienta Google Trends para la obtención del Volumen Relativo de Búsqueda (VRB). Resultados: El VRB para “Ansiedad” se incrementó en 2020 y se mantuvo estable y moderado hasta 2022, mientras que para “Depresión” se mostró un incremento solo en 2022. Por otro lado, el VRB para “Suicidio” se redujo progresivamente de 2019 a 2022. Las comunidades que mostraron mayores niveles en VRB para “Ansiedad” y “Depresión” fueron Asturias y Aragón, que partían en 2019 con niveles altos que mantuvieron en los años posteriores. Mientras que Extremadura fue la comunidad que mayor progresión mostró, llegando a 2022 con niveles altos en ansiedad y depresión. Respecto al “Suicidio”, Castilla y León, Cantabria, Murcia y Andalucía, fueron las comunidades que tuvieron mayor VRB, si bien todas las comunidades mostraron disminuciones progresivas de 2019 a 2022. Conclusiones: Estudios que analicen las tendencias de búsqueda podrían ser útiles en determinadas situaciones de emergencia, facilitando la implementación de intervenciones preventivas y adaptadas a cada comunidad, que podrían atenuar el impacto sobre la salud mental.(AU)

Introduction: The COVID-19 pandemic has increased the prevalence of anxiety, depression and suicide in most countries. The use of tools such as Google Trends has shown to be effective in monitoring different mental illnesses and disorders, with the potential to improve the health response. In this research we analyse the evolution of search trends for the terms “Anxiety”, “Depression” and “Suicide” in the Spanish autonomous communities between 2019 and 2022. Method: We used the Google Trends tool to obtain the Relative Search Volume (RSV). Results: The RSV of “Anxiety” increased in 2020 and remained stable and moderate until 2022, while “Depression” showed an increase only in 2022. On the other hand, the RSV of “Suicide” decreased progressively from 2019 to 2022. The communities that showed the highest levels of RSV for “Anxiety” and “Depression” were Asturias and Aragon, which started in 2019 with high levels that they maintained in the following years. While Extremadura was the community that showed the greatest progression, arriving in 2022 with high levels of anxiety and depression. Regarding “Suicide”, Castilla and León, Cantabria, Murcia and Andalusia, were the Communities with the highest RSV, although all communities showed progressive decreases from 2019 to 2022. Conclusions: Studies that analyse search trends could be useful in certain emergency situations, facilitating the implementation of preventive interventions adapted to each community, which could mitigate the impact on mental health.(AU)

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One of the main goals of human genetics is to understand the connections between genomic variation and the predisposition to develop a complex disorder. These disease-variant associations are usually studied in a single independent manner, disregarding the possible effect derived from the interaction between genomic variants. In particular, in a background of complex diseases, these interactions can be directly linked to the disorder and may play an important role in disease development. Although their study has been suggested to help to complete the understanding of the genetic bases of complex diseases, this still represents a big challenge due to large computing demands. Here, we have taken advantage of High-Performance Computing technologies to tackle this problem using a combination of machine learning methods and statistical approaches. As a result, we have created a containerized framework that uses Multifactor Dimensionality Reduction to detect pairs of variants associated with Type 2 Diabetes (T2D). This methodology has been tested in the Northwestern University NUgene project cohort using a dataset of 1,883,192 variant pairs with a certain degree of association with T2D. Out of the pairs studied, we have identified 104 significant pairs, two of which exhibit a potential functional relationship with T2D.

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BACKGROUND: Diroximel fumarate (DRF) is approved for adults with relapsing-remitting multiple sclerosis (RRMS) in Europe and for relapsing forms of MS in the United States. DRF and dimethyl fumarate (DMF) yield bioequivalent exposure of the active metabolite monomethyl fumarate. Prior studies indicated fewer gastrointestinal (GI)-related adverse events (AEs) with DRF compared with DMF. OBJECTIVE: To report final outcomes from EVOLVE-MS-1. METHODS: EVOLVE-MS-1 was an open-label, 96-week, phase 3 study assessing DRF safety, tolerability, and efficacy in patients with RRMS. The primary endpoint was safety and tolerability; efficacy endpoints were exploratory. RESULTS: Overall, 75.7% (800/1057) of patients completed the study; median exposure was 1.8 (range: 0.0-2.0) years. AEs occurred in 938 (88.7%) patients, mostly of mild (28.9%) or moderate (50.3%) severity. DRF was discontinued due to AEs in 85 (8.0%) patients, with < 2% discontinuing due to GI or flushing/flushing-related AEs. At Week 96, mean number of gadolinium-enhancing lesions was significantly reduced from baseline (72.7%; p < 0.0001); adjusted annualized relapse rate was 0.13 (95% confidence interval: 0.11-0.15). CONCLUSION: DRF was generally well tolerated over 2 years, with few discontinuations due to AEs; radiological measures indicated decreased disease activity from baseline. These outcomes support DRF as a treatment option in patients with RRMS.

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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy with a poor prognosis and considered incurable with conventional chemotherapy. Small observational studies reported allogeneic hematopoietic cell transplantation (allo-HCT) offers durable remissions in patients with BPDCN. We report an analysis of patients with BPDCN who received an allo-HCT, using data reported to the Center for International Blood and Marrow Transplant Research (CIBMTR). We identified 164 patients with BPDCN from 78 centers who underwent allo-HCT between 2007 and 2018. The 5-year overall survival (OS), disease-free survival (DFS), relapse, and nonrelapse mortality (NRM) rates were 51.2% (95% confidence interval [CI], 42.5-59.8), 44.4% (95% CI, 36.2-52.8), 32.2% (95% CI, 24.7-40.3), and 23.3% (95% CI, 16.9-30.4), respectively. Disease relapse was the most common cause of death. On multivariate analyses, age of ≥60 years was predictive for inferior OS (hazard ratio [HR], 2.16; 95% CI, 1.35-3.46; P = .001), and higher NRM (HR, 2.19; 95% CI, 1.13-4.22; P = .02). Remission status at time of allo-HCT (CR2/primary induction failure/relapse vs CR1) was predictive of inferior OS (HR, 1.87; 95% CI, 1.14-3.06; P = .01) and DFS (HR, 1.75; 95% CI, 1.11-2.76; P = .02). Use of myeloablative conditioning with total body irradiation (MAC-TBI) was predictive of improved DFS and reduced relapse risk. Allo-HCT is effective in providing durable remissions and long-term survival in BPDCN. Younger age and allo-HCT in CR1 predicted for improved survival, whereas MAC-TBI predicted for less relapse and improved DFS. Novel strategies incorporating allo-HCT are needed to further improve outcomes.

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Cancer is one of the main noncommunicable diseases in terms of health impact. Factors such as a progressively aging population point to future increases in the incidence of cancer on a global level. The elevated number of affected individuals, together with continuous improvements in cancer prevention and therapy, is creating a growing population of cancer survivors, with often inadequately met needs. Lifestyle is a key modulator of cancer risk and of associated morbidity and mortality, and is included in all approaches to the long-term management of cancer. Diet is a principal component of lifestyle, and most of the available evidence is centered on the Mediterranean diet. Our objective was to provide a narrative review of the evidence on the effect of the Mediterranean diet on cancer risk and health threats related to cancer survivorship. For this purpose, we searched the PubMed database for articles published between January 1, 2000, and June 12, 2023. Current data show that the Mediterranean diet is inversely associated with risk, or is risk neutral, for most types of cancer. Tumors of the digestive system have received preferential interest, but studies have also been published on tumors in other organs. The evidence, however, is meager due to the observational nature of most studies, although it is reassuring that benefit is reproduced in studies performed in different populations and environments. Evidence related to cancer survivors is limited by the paucity of studies, yet several findings regarding survival, recurrence, and short- and long-term morbidity suggest a potential role for the Mediterranean diet that warrants further research.

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El déficit selectivo de IgA se define como la ausencia parcial o total de IgA en el suero, con cifras normales en el resto de las inmunoglobulinas. Se presentó una paciente femenina de 1 año y 7 meses, de padres no consanguíneos, con antecedentes familiares negativos para enfermedades genéticas o defectos congénitos, e IgA deficiente. Los estudios inmunológicos mostraron un gran déficit de IgA, de ahí que el diagnóstico se definió como una inmunodeficiencia congénita, por déficit selectiva de IgA o inmunodeficiencia variable común (trastorno genético producto de una herencia monogénica); para lo cual se le realiza una cuantificación de la subclase de IgG y así determinar si es una mutación en un mismo gen defectuoso. La paciente evolucionó satisfactoriamente con los tratamientos recibidos; los valores de IgA permanecieron nulos, no siendo así con el resto de las inmunoglobulinas.

Selective IgA deficiency is defined as the partial or total absence of IgA in the serum, but normal levels in the rest of the immunoglobulins. We present a female patient aged 1 year and 7 months, of non-consanguineous parents, who had a negative family pathological history for genetic diseases or congenital defects and IgA deficiency. Immunological studies showed a high IgA deficiency, hence the diagnosis was defined as congenital immunodeficiency due to selective IgA deficiency or common variable immunodeficiency (genetic disorder resulting from monogenic inheritance); a quantification of the IgG subclass was also performed in order to determine if it was a mutation in the same defective gene. The patient evolved satisfactorily with the treatments received; the IgA values remained null, but this was not the case with the rest of the immunoglobulins.

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Introducción: Las mordeduras por araña parda pueden manifestarse desde una simple lesión dérmica en el área de la mordedura, hasta formas graves, con falla orgánica múltiple. Caso Clínico: presentamos el caso de una paciente con mordedura por araña parda, quien presenta inicialmente lesiones dérmicas sin necrosis, evolucionando con áreas de necrosis y el desarrollo de síndrome compartimental de extremidad, sepsis, choque séptico y falla renal. Mejora tras manejo intensivo, anti veneno y colocación de terapia de presión negativa (TPN) en herida, conservando la extremidad afectada integra y recuperando la función renal. Discusion: Este caso en particular presenta los tres tipos de manifestaciones que se generan en el loxoscelismo, las cuales son una forma de presentación poco frecuente. El tratamiento con TPN se ha introducido como una terapia poderosa, no farmacológica para ayudar a acelerar el proceso de cicatrización de heridas y puede ser de utilidad en pacientes con mordedura de araña (loxoscelismo).

Introduction: The brown spider bites have the peculiarity of manifesting from a simple skin lesion in the area of the bite, to severe forms, with multiple organic failure. Clinical Case: We present the case of a patient with a brown spider bite, initially presenting dermal lesions without necrosis, evolving with areas of necrosis and the development of compartment syndrome of extremities, sepsis, septic shock and renal failure. Improvement after intensive management and installation in negative pressure therapy wound (NPT), keeping the affected limb integrated and recovering renal function. Discussion: This case in particular presents the three types of manifestations that are generated in loxoscelism, which are a rare form of presentation. The NPT treatment has been introduced as a powerful, non-pharmacological and physical therapy to help accelerate the wound healing process and may be useful in patients with spider bites.