Tratamiento fisioterápico de un caso de CDG tipo Ia

El síndrome CDG ó los desordenes congénitos de la glicosilación de las mitocondrias son un grupo de enfermedades metabólicas hereditarias. Esta enfermedad afecta a todas las partes del cuerpo, en especial al sistema nervioso central en grados que varían de unos a otros, pero todos los pacientes tienen afectados el equilibrio y la coordinación. Pueden tener también problemas en el hígado, estrabismo, problemas de coagulación, pericarditis y comúnmente convulsiones. Hay 900 casos en el mundo diagnosticados y en España hay actualmente unos 33 casos. CASO CLÍNICO Niño de 2 años con CDG tipo Ia que acude a nuestro centro remitido por su neuropediatra. A su llegada presenta recorridos articulares pasivos completos tanto en extremidades superiores como inferiores . A nivel de motricidad gruesa presenta control cefálico y comienza a tener control de su tronco en posición sentada. Es capaz de voltear hacia ambos lados de forma autónoma , no es capaz de sentarse solito pero colabora en las tracciones. Se mantiene de pié con ayuda de la fisio. A nivel de motricidad fina es capaz de coger objetos de diferentes pesos y grosores pero no es capaz de darles funcionalidad (no es capaz por ejemplo de sacar aros de un eje , ó de realizar torres de 3 cubos…) Se pautan sesiones de fisioterapia 3 días a la semana donde trabajaremos la motricidad gruesa (trabajando los niveles de evolución motriz y coordinación oculomanual mediante pelotas,aros…), la motricidad fina mediante juegos manipulativos (torres de cubos, aros, encajables etc…) y el mantenimiento y mejora de recorridos articulares y del tono muscular mediante movilizaciones pasivas y activo-asistidas

Histopathologic Response Criteria Predict Survival of Patients with Resected Lung Cancer After Neoadjuvant Chemotherapy

Introduction:We evaluated the ability of histopathologic response criteria to predict overall survival (OS) and disease-free survival (DFS) in patients with surgically resected non-small cell lung cancer (NSCLC) treated with or without neoadjuvant chemotherapy.Methods:Tissue specimens from 358 patients with NSCLC were evaluated by pathologists blinded to the patient treatment and outcome. The surgical specimens were reviewed for various histopathologic features in the tumor including percentage of residual viable tumor cells, necrosis, and fibrosis. The relationship between the histopathologic findings and OS was assessed.Results:The percentage of residual viable tumor cells and surgical pathologic stage were associated with OS and DFS in 192 patients with NSCLC receiving neoadjuvant chemotherapy in multivariate analysis (p = 0.005 and p = 0.01, respectively). There was no association of OS or DFS with percentage of viable tumor cells in 166 patients with NSCLC who did not receive neoadjuvant chemotherapy (p = 0.31 and p = 0.45, respectively). Long-term OS and DFS were significantly prolonged in patients who had ⩽10% viable tumor compared with patients with >10% viable tumor cells (5 years OS, 85% versus 40%, p < 0.0001 and 5 years DFS, 78% versus 35%, p < 0.001).Conclusion:The percentages of residual viable tumor cells predict OS and DFS in patients with resected NSCLC after neoadjuvant chemotherapy even when controlled for pathologic stage. Histopathologic assessment of resected specimens after neoadjuvant chemotherapy could potentially have a role in addition to pathologic stage in assessing prognosis, chemotherapy response, and the need for additional adjuvant therapies

Aula virtual y desempeño académico de los estudiantes del curso de Fundamentos de Contabilidad y Finanzas de una universidad privada de Lima, en el 2020-II

El presente estudio tiene como objetivo general, describir cómo se desarrolla el uso del aula virtual y el desempeño académico de los estudiantes del curso Fundamentos de Contabilidad y Finanzas de una Universidad Privada de Lima Metropolitana, en el 2020-II. Para ello, se ha seleccionado una muestra de 15 entrevistados de una población de 50 estudiantes. La investigación presenta un enfoque cualitativo, de alcance descriptivo y de diseño fenomenológico. Los resultados revelan que el aula virtual permite acceder al conocimiento y la comprensión de los contenidos del curso; la interacción con sus compañeros de clase y el docente, y que los estudiantes tienen una percepción positiva de su desempeño académico y muestran disposición para mejorarlo. Los estudiantes tienen motivaciones y objetivos de vida claros que los impulsa a lograr un buen desempeño académico. Esta percepción es reforzada por la retroalimentación del docente y los comentarios de sus pares. Del mismo modo, el grupo de WhatsApp y el Zoom son percibidos como espacios de comunicación que les permite interactuar de manera directa e inmediata.The main objective of this research project is to describe the use of the virtual classroom and the academic performance of undergraduate students of the Accounting and Finance Fundamentals Course of a private university in Lima, in the 2020-II university term. To that end, we have selected a representative sample of 15 students within a population of 50. The research has a qualitative approach, with a descriptive scope and a phenomenological design. The results show that the virtual classroom allows students to access to the knowledge and to understand the course contents; as well as interaction with their classmates and teacher, and they also show how satisfied the students are with their academic performance and their aspiration to improve it. Students have clear motivations and life goals that encourage them to perform well. This perception is reinforced by the teacher's feedback and the comments of their peers. Similarly, the WhatsApp group and the Zoom are perceived as communication environments that allow them to interact directly and immediately.Escuela de Postgrad

Consensus on early detection of disease progression in patients with multiple sclerosis

BackgroundEarly identification of the transition from relapsing-remitting multiple sclerosis (RRMS) to secondary progressive MS (SPMS) can be challenging for clinicians, as diagnostic criteria for SPMS are primarily based on physical disability and a holistic interpretation.ObjectiveTo establish a consensus on patient monitoring to identify promptly disease progression and the most useful clinical and paraclinical variables for early identification of disease progression in MS.MethodsA RAND/UCLA Appropriateness Method was used to establish the level of agreement among a panel of 15 medical experts in MS. Eighty-three items were circulated to the experts for confidential rating of the grade of agreement and recommendation. Consensus was defined when ≥66% agreement or disagreement was achieved.ResultsConsensus was reached in 72 out of 83 items (86.7%). The items addressed frequency of follow-up visits, definition of progression, identification of clinical, cognitive, and radiological assessments as variables of suspected or confirmed SPMS diagnosis, the need for more accurate assessment tools, and the use of promising molecular and imaging biomarkers to predict disease progression and/or diagnose SPMS.ConclusionConsensus achieved on these topics could guide neurologists to identify earlier disease progression and to plan targeted clinical and therapeutic interventions during the earliest stages of SPMS

Impact of COVID-19 confinement on physical activity and sedentary behaviour in Spanish university students: role of gender

During the COVID-19 pandemic, entire populations were instructed to live in home-confinement to prevent the expansion of the disease. Spain was one of the countries with the strictest conditions, as outdoor physical activity was banned for nearly two months. This study aimed to analyse the changes in physical activity and sedentary behaviours in Spanish university students before and during the confinement by COVID-19 with special focus on gender. We also analysed enjoyment, the tools used and motivation and impediments for doing physical activity. An online questionnaire, which included the International Physical Activity Questionnaire Short Form and certain 'ad hoc' questions, was designed. Students were recruited by distributing an invitation through the administrative channels of 16 universities and a total of 13,754 valid surveys were collected. Overall, university students reduced moderate (-29.5%) and vigorous (-18.3%) physical activity during the confinement and increased sedentary time (+52.7%). However, they spent more time on high intensity interval training (HIIT) (+18.2%) and mind-body activities (e.g., yoga) (+80.0%). Adaptation to the confinement, in terms of physical activity, was handled better by women than by men. These results will help design strategies for each gender to promote physical activity and reduce sedentary behaviour during confinement periods.This research was funded by the High Sports Council (Consejo Superior de Deportes, CSD) of the Ministry of Culture and Sports of the Government of Spain, grant number 45/UPB/20. A.E. is a recipient of a grant of the Basque Government (Eusko Jaurlaritza), grant number PRE_2019_1_0373. D.J.-P. is supported by a grant from the Spanish Ministry of Science and Innovation-MINECO, grant number RYC-2014-16938

Impact of COVID-19 Confinement on Physical Activity and Sedentary Behaviour in Spanish University Students: Role of Gender

[EN] During the COVID-19 pandemic, entire populations were instructed to live in home-confinement to prevent the expansion of the disease. Spain was one of the countries with the strictest conditions, as outdoor physical activity was banned for nearly two months. This study aimed to analyse the changes in physical activity and sedentary behaviours in Spanish university students before and during the confinement by COVID-19 with special focus on gender. We also analysed enjoyment, the tools used and motivation and impediments for doing physical activity. An online questionnaire, which included the International Physical Activity Questionnaire Short Form and certain "ad hoc" questions, was designed. Students were recruited by distributing an invitation through the administrative channels of 16 universities and a total of 13,754 valid surveys were collected. Overall, university students reduced moderate (-29.5%) and vigorous (-18.3%) physical activity during the confinement and increased sedentary time (+52.7%). However, they spent more time on high intensity interval training (HIIT) (+18.2%) and mind-body activities (e.g., yoga) (+80.0%). Adaptation to the confinement, in terms of physical activity, was handled better by women than by men. These results will help design strategies for each gender to promote physical activity and reduce sedentary behaviour during confinement periods.S

Evolution of DNA methylome from precancerous lesions to invasive lung adenocarcinomas

The evolution of DNA methylome and methylation intra-tumor heterogeneity (ITH) during early carcinogenesis of lung adenocarcinoma has not been systematically studied. We perform reduced representation bisulfite sequencing of invasive lung adenocarcinoma and its precursors, atypical adenomatous hyperplasia, adenocarcinoma in situ and minimally invasive adenocarcinoma. We observe gradual increase of methylation aberrations and significantly higher level of methylation ITH in later-stage lesions. The phylogenetic patterns inferred from methylation aberrations resemble those based on somatic mutations suggesting parallel methylation and genetic evolution. De-convolution reveal higher ratio of T regulatory cells (Tregs) versus CD8 + T cells in later-stage diseases, implying progressive immunosuppression with neoplastic progression. Furthermore, increased global hypomethylation is associated with higher mutation burden, copy number variation burden and AI burden as well as higher Treg/CD8 ratio, highlighting the potential impact of methylation on chromosomal instability, mutagenesis and tumor immune microenvironment during early carcinogenesis of lung adenocarcinomas

Shared Nearest Neighbors Approach and Interactive Browser for Network Analysis of a Comprehensive Non-Small-Cell Lung Cancer Data Set

View full abstracthttps://openworks.mdanderson.org/leading-edge/1000/thumbnail.jp

Long-Term exercise intervention in patients with McArdle disease: clinical and aerobic fitness benefits

Introduction: The long-term effects of exercise in patients with McArdle disease—the paradigm of ‘exercise intolerance’—are unknown. This is an important question as the severity of the disease frequently increases with time. Purpose: To study the effects of a long-term exercise intervention on clinical and fitness-related outcomes in McArdle patients. Methods: Seventeen patients (exercise group: N=10, 6 male, 38±18yrs; control: N=7, 4 male, 38±18yrs) participated in a twoyear unsupervised intervention including moderate-intensity aerobic (cycle-ergometer exercise for 1h) and resistance (high load-low repetition circuit) training on 5 and 2-3 days/week, respectively. Patients were assessed at baseline and postintervention. Besides safety, outcomes included clinical severity (e.g., exercise intolerance features) on a 0-3 scale (primary outcome), and aerobic fitness, gross muscle efficiency, and body composition (total/regional fat, muscle, and bone mass) (secondary outcomes). Results: The exercise program was safe and resulted in a reduction of one point (-1.0, 95% confidence interval -1.6—-0.5, p=0.025) in clinical severity vs. the control group, with 60% of participants in the exercise group becoming virtually asymptomatic and with no functional limitation in daily life activities. Compared with controls, the intervention induced significant and large benefits (all p<0.05) in the workload eliciting the ventilatory threshold (both in absolute (watts, +37%) and relative units (watts·kg-1 of total body mass or of lower-limb muscle mass, +44%)), peak oxygen uptake (ml·kg-1 ·min-1 , +28%) and peak workload (absolute (+27%) and relative units (+33%)). However, no significant changes were found for muscle efficiency nor for any measure of body composition. Conclusions: A two-year unsupervised intervention including aerobic and resistance exercise is safe and induces major benefits in the clinical course and aerobic fitness of patients with McArdle disease

Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection : a double-blind, placebo-controlled, randomised clinical trial

Anti-COVID-19 hyperimmune immunoglobulin (hIG) can provide standardized and controlled antibody content. Data from controlled clinical trials using hIG for the prevention or treatment of COVID-19 outpatients have not been reported. We assessed the safety and efficacy of subcutaneous anti-COVID-19 hyperimmune immunoglobulin 20% (C19-IG20%) compared to placebo in preventing development of symptomatic COVID-19 in asymptomatic individuals with SARS-CoV-2 infection. We did a multicentre, randomized, double-blind, placebo-controlled trial, in asymptomatic unvaccinated adults (≥18 years of age) with confirmed SARS-CoV-2 infection within 5 days between April 28 and December 27, 2021. Participants were randomly assigned (1:1:1) to receive a blinded subcutaneous infusion of 10 mL with 1 g or 2 g of C19-IG20%, or an equivalent volume of saline as placebo. The primary endpoint was the proportion of participants who remained asymptomatic through day 14 after infusion. Secondary endpoints included the proportion of individuals who required oxygen supplementation, any medically attended visit, hospitalisation, or ICU, and viral load reduction and viral clearance in nasopharyngeal swabs. Safety was assessed as the proportion of patients with adverse events. The trial was terminated early due to a lack of potential benefit in the target population in a planned interim analysis conducted in December 2021. registry: . 461 individuals (mean age 39.6 years [SD 12.8]) were randomized and received the intervention within a mean of 3.1 (SD 1.27) days from a positive SARS-CoV-2 test. In the prespecified modified intention-to-treat analysis that included only participants who received a subcutaneous infusion, the primary outcome occurred in 59.9% (91/152) of participants receiving 1 g C19-IG20%, 64.7% (99/153) receiving 2 g, and 63.5% (99/156) receiving placebo (difference in proportions 1 g C19-IG20% vs. placebo, −3.6%; 95% CI -14.6% to 7.3%, p = 0.53; 2 g C19-IG20% vs placebo, 1.1%; −9.6% to 11.9%, p = 0.85). None of the secondary clinical efficacy endpoints or virological endpoints were significantly different between study groups. Adverse event rate was similar between groups, and no severe or life-threatening adverse events related to investigational product infusion were reported. Our findings suggested that administration of subcutaneous human hyperimmune immunoglobulin C19-IG20% to asymptomatic individuals with SARS-CoV-2 infection was safe but did not prevent development of symptomatic COVID-19.