Gene Influence in the Effectiveness of Plant Sterols Treatment in Children: Pilot Interventional Study.

Cardiovascular disease is linked to high serum low density lipoprotein (LDL)-cholesterol levels. Cardiovascular risk may be indirectly influenced by genetic load. Serum LDL-cholesterol levels may be reduced by the consumption of food enriched with plant sterols (PS). The aim was to test a plant sterol treatment on cholesterol levels according to different genetic polymorphisms. A pilot interventional trial was performed in 26 children (n = 16 girls, n = 10 boys). Seven hundred milliliters/day of commercial skimmed milk with added plant sterols delivering 2.2 g plant sterols were ingested for three weeks. Blood draws were performed at the baseline and end of the study. Significant modifications of non-high density lipoprotein (HDL)-cholesterol (p = 0.010; p = 0.013) and LDL-cholesterol (p = 0.004; p = 0.013) levels appeared in the genes LIPC C-514T and PPAR-α L162V carriers. No statistically significant differences were observed for other genes. LIPC C-514T and PPAR-alpha L162V carriers could benefit from a plant sterol supplement to ameliorate hypercholesterolemia.post-print1,25 M

Efectos de la cirugía laparoscópica en pacientes de cáncer colorrectal: calidad de vida, estado emocional y satisfacción

El objetivo del presente estudio es evaluar la calidad de vida, el estado emocional y la satisfacción percibida con el tratamiento y con el equipo médico en una muestra de pacientes con cáncer colorrectal intervenidos mediante cirugía laparoscópica. La muestra está constituida por 35 pacientes y las variables objeto de estudio fueron: a) sociodemográficas: edad y género; b) calidad de vida (EORTC QLQ C-30); c) ansiedad y depresión (HADS); d) satisfacción con el tratamiento y con el equipo médico (escala categórica). Los resultados obtenidos muestran que las dimensiones de calidad de vida global, función física, rol, emocional, cognitivas y social son altamente satisfactorias, no obstante muchos pacientes muestran síntomas de fatiga, nausea, y dolor. En cuanto a la ansiedad y depresión las puntuaciones en el HADS son bajas: media de 4,57 y 3,38 respectivamente. El 19% de la muestra se puede considerar caso clínico de depresión y el 29% de ansiedad. La satisfacción percibida es alta, más del 50% de los pacientes se considera muy o totalmente satisfecho. Se puede concluir que los pacientes de cáncer colorrectal necesitan una atención integral para mejorar la calidad de vida y el estado emocional, ya que el mero paso de tiempo no produce una recuperación, sino que se precisa de una intervención psicológica, que ha de aplicarse desde el inicio del tratamiento médico para optimizar la calidad asistencial

Detección molecular de la enfermedad de la necrosis aguda del hepatopáncreas en muestras de langostinos de la región de tumbes

Shrimp farming is a very important productive activity in the north of Peru, afected by several diseases, such as acute hepatopancreas necrotic disease (AHPND), due to the PirA-B toxin from bacterias of the Vibrio genus and it could generate a total loss of the production in several countries.  In this paper, the method to detect AHPND is showed, using a Nested-PCR system in order to amplify the PirA-B toxin genes both from hepatopancreas samples or Vibrio strains isolated from ill shrimps.  Results indicate a presence of PirA-B toxin genes in 45.16% of the isolated strains, allowing a discussion about the possible causes about why the disease is not spread.El cultivo de langostinos es una actividad productiva muy importante en el norte del Perú y que puede verse afectada por diversos tipos de enfermedades, dentro de las cuales se tiene la enfermedad de la necrosis aguda del hepatopáncreas (AHPND), producida por la toxina PirA-B presente en bacterias del género Vibrio y que puede generar hasta la pérdida total de la producción en otros países. En el presente artículo, se muestra la metodología de detección de la AHPND, utilizando un sistema de Nested-PCR para amplificar los genes para la toxina PirA-B tanto a partir de muestras de hepatopáncreas como de cepas de Vibrio aisladas a partir de animales enfermos.  Los resultados muestran la presencia de los genes para la toxina PirA-B en un 45.16% de las cepas bacterianas aisladas, discutiendo las posibles causas que detienen una mayor propagación

A Low-Cost System Using a Big-Data Deep-Learning Framework for Assessing Physical Telerehabilitation: A Proof-of-Concept

The consolidation of telerehabilitation for the treatment of many diseases over the last decades is a consequence of its cost-effective results and its ability to offer access to rehabilitation in remote areas. Telerehabilitation operates over a distance, so vulnerable patients are never exposed to unnecessary risks. Despite its low cost, the need for a professional to assess therapeutic exercises and proper corporal movements online should also be mentioned. The focus of this paper is on a telerehabilitation system for patients suffering from Parkinson’s disease in remote villages and other less accessible locations. A full-stack is presented using big data frameworks that facilitate communication between the patient and the occupational therapist, the recording of each session, and real-time skeleton identification using artificial intelligence techniques. Big data technologies are used to process the numerous videos that are generated during the course of treating simultaneous patients. Moreover, the skeleton of each patient can be estimated using deep neural networks for automated evaluation of corporal exercises, which is of immense help to the therapists in charge of the treatment programs.This work was supported by project PI19/00670 of the Ministerio de Ciencia, Innovación y Universidades, Instituto de Salud Carlos III, Spain. The authors gratefully acknowledge the support of the NVIDIA Corporation and its donation of the TITAN Xp GPU used in this research. In addition, this work was partially supported by the European Social Fund, as the authors José Miguel Ramírez-Sanz, José Luis Garrido-Labrador, and Alicia Olivares-Gil are the recipients of a pre-doctoral grant (EDU/875/2021) from the Conserjería de Educación de la Junta de Castilla y León

Assistive Devices for Personal Mobility in Parkinson's Disease: A Systematic Review of the Literature

Artículo de revisiónGait abnormalities are a hallmark of Parkinson’s disease and contribute to falling risk. As disease symptoms progress, assistive devices are often prescribed. However, there are no guidelines for choosing appropriate ambulatory devices for gait impairment.This work was supported by the project PI19/00670 of the Ministerio de Ciencia, Innovación y Universidades, Instituto de Salud Carlos III, Spain. The authors declare that there are no additional disclosures to report relevant to this work

Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications

BackgroundIn Mexico, the incidence of acute myeloid leukemia (AML) has increased in the last few years. Mortality is higher than in developed countries, even though the same chemotherapy protocols are used. CCAAT Enhancer Binding Protein Alpha (CEBPA) mutations are recurrent in AML, influence prognosis, and help to define treatment strategies. CEBPA mutational profiles and their clinical implications have not been evaluated in Mexican pediatric AML patients.Aim of the StudyTo identify the mutational landscape of the CEBPA gene in pediatric patients with de novo AML and assess its influence on clinical features and overall survival (OS).Materials and MethodsDNA was extracted from bone marrow aspirates at diagnosis. Targeted massive parallel sequencing of CEBPA was performed in 80 patients.ResultsCEBPA was mutated in 12.5% (10/80) of patients. Frameshifts at the N-terminal region were the most common mutations 57.14% (8/14). CEBPA biallelic (CEBPABI) mutations were identified in five patients. M2 subtype was the most common in CEBPA positive patients (CEBPAPOS) (p = 0.009); 50% of the CEBPAPOS patients had a WBC count > 100,000 at diagnosis (p = 0.004). OS > 1 year was significantly better in CEBPA negative (CEBPANEG) patients (p = 0.0001). CEBPAPOS patients (either bi- or monoallelic) had a significantly lower OS (p = 0.002). Concurrent mutations in FLT3, CSF3R, and WT1 genes were found in CEBPAPOS individuals. Their contribution to poor OS cannot be ruled out.ConclusionCEBPA mutational profiles in Mexican pediatric AML patients and their clinical implications were evaluated for the first time. The frequency of CEBPAPOS was in the range reported for pediatric AML (4.5–15%). CEBPA mutations showed a negative impact on OS as opposed to the results of other studies

Anti-tumour necrosis factor discontinuation in inflammatory bowel disease patients in remission: study protocol of a prospective, multicentre, randomized clinical trial

Background: Patients with inflammatory bowel disease who achieve remission with anti-tumour necrosis factor (anti-TNF) drugs may have treatment withdrawn due to safety concerns and cost considerations, but there is a lack of prospective, controlled data investigating this strategy. The primary study aim is to compare the rates of clinical remission at 1?year in patients who discontinue anti-TNF treatment versus those who continue treatment. Methods: This is an ongoing, prospective, double-blind, multicentre, randomized, placebo-controlled study in patients with Crohn?s disease or ulcerative colitis who have achieved clinical remission for ?6?months with an anti-TNF treatment and an immunosuppressant. Patients are being randomized 1:1 to discontinue anti-TNF therapy or continue therapy. Randomization stratifies patients by the type of inflammatory bowel disease and drug (infliximab versus adalimumab) at study inclusion. The primary endpoint of the study is sustained clinical remission at 1?year. Other endpoints include endoscopic and radiological activity, patient-reported outcomes (quality of life, work productivity), safety and predictive factors for relapse. The required sample size is 194 patients. In addition to the main analysis (discontinuation versus continuation), subanalyses will include stratification by type of inflammatory bowel disease, phenotype and previous treatment. Biological samples will be obtained to identify factors predictive of relapse after treatment withdrawal. Results: Enrolment began in 2016, and the study is expected to end in 2020. Conclusions: This study will contribute prospective, controlled data on outcomes and predictors of relapse in patients with inflammatory bowel disease after withdrawal of anti-TNF agents following achievement of clinical remission. Clinical trial reference number: EudraCT 2015-001410-1

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements