Publications by authors named "Marina Sanchez"

Article Synopsis
  • A study on 173 female patients with recurrent reproductive failure (RRF) found a notably higher prevalence of HLA genes associated with celiac disease (CD) and non-celiac gluten sensitivity (NCGS), compared to the general population (69% vs. 35%-40%).
  • Only a small percentage (2.3%) of the patients were diagnosed with CD, but those with HLA genetic susceptibility showed a significant link to higher rates of hypothyroidism (48.7% vs. 26.92%).
  • Patients with both HLA susceptibility and thyroid disease had better pregnancy outcomes when on a gluten-free diet and using levothyroxine, indicating potential benefits of these interventions for reproductive success.
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The literature shows that a circular economy can benefit some sectors such as the construction industry. This sector demands huge amounts of raw materials and produces waste when buildings and structures are demolished. This paper explores the possibility of manufacturing at industrial scale paving blocks using different types of construction and demolition wastes as aggregates, without modifying the commonly used industrial conditions.

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Lafora disease is a rare and fatal form of progressive myoclonic epilepsy typically occurring early in adolescence. The disease results from mutations in the EPM2A gene, encoding laforin, or the EPM2B gene, encoding malin. Laforin and malin work together in a complex to control glycogen synthesis and prevent the toxicity produced by misfolded proteins via the ubiquitin-proteasome system.

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Lafora disease is a rare and fatal form of progressive myoclonic epilepsy with onset during early adolescence. The disease is caused by mutations in EPM2A, encoding laforin, or EPM2B, encoding malin. Both proteins have functions that affect glycogen metabolism, including glycogen dephosphorylation by laforin and ubiquitination of enzymes involved in glycogen metabolism by malin.

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Article Synopsis
  • - Lafora disease is a rare and fatal epilepsy that usually starts in early adolescence, leading to seizures, dementia, and a rapid neurological decline, often resulting in death within 5-15 years due to mutations in the
  • laforin
  • and
  • malin
  • genes.
  • - The disease causes the formation of Lafora bodies—abnormal glycogen deposits—due to disruptions in the proteins laforin and malin, which are crucial for glycogen metabolism and protein clearance.
  • - Gene replacement therapy using a modified virus to deliver the human
  • laforin
  • gene in a mouse model showed promising results by reducing neurological damage, seizures, and Lafora body formation, with benefits lasting up to nine months post-treatment.
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Background: The incidence of acute kidney injury following cardiac surgery (CSA-AKI) is up to 30%, and the risk of chronic kidney disease (CKD) has been found to be higher in these patients compared to the AKI-free population. The aim of our study was to assess the risk of major adverse kidney events (MAKE) [25% or greater decline in estimated glomerular filtration rate (eGFR), new hemodialysis, and death] after cardiac surgery in a Spanish cohort and to evaluate the utility of the score developed by Legouis D et al. (CSA-CKD score) in predicting the occurrence of MAKE.

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  • The study investigates geographical differences in the risk of secondary progressive multiple sclerosis (SPMS) and how these may be influenced by factors like latitude and treatment types.
  • It utilizes data from a global patient registry, focusing on relapsing-remitting multiple sclerosis patients and factors such as age, sex, and treatment efficacy.
  • The research analyzes data from over 51,000 patients across 27 countries to establish patterns in the progression from relapsing-remitting to secondary progressive phases of the disease.
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Lafora disease is a rare recessive form of progressive myoclonic epilepsy, usually diagnosed during adolescence. Patients present with myoclonus, neurological deterioration, and generalized tonic-clonic, myoclonic, or absence seizures. Symptoms worsen until death, usually within the first ten years of clinical onset.

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Lafora disease is a fatal form of progressive myoclonic epilepsy caused by mutations in the EPM2A or NHLRC1/EPM2B genes that usually appears during adolescence. The Epm2a and Epm2b knock-out mouse models of the disease develop behavioral and neurological alterations similar to those observed in patients. The aim of this work is to analyze whether early treatment with metformin (from conception to adulthood) ameliorates the formation of Lafora bodies and improves the behavioral and neurological outcomes observed with late treatment (during 2 months at 10 months of age).

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Background: Cephalosporins are the cornerstone of cardiac device infection prophylaxis. Owing to fears of cross-reactivity, penicillin-allergic patients are exposed to potentially more-toxic drugs, with decreased efficacy. We evaluated the safety of a cefazolin test dose (CTD) in self-reported penicillin-allergic patients.

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Objective: Cholecystokinin (CCK) plays a critical role in regulating eating and metabolism. Previous studies have mapped a multi-synapse neural pathway from the vagus nerve to the central nucleus of the amygdala (CEA) that mediates the anorexigenic effect of CCK. However, the neural circuit downstream of the CEA is still unknown due to the complexity of the neurons in the CEA.

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Metformin is a drug in the family of biguanide compounds that is widely used in the treatment of type 2 diabetes (T2D). Interestingly, the therapeutic potential of metformin expands its prescribed use as an anti-diabetic drug. In this sense, it has been described that metformin administration has beneficial effects on different neurological conditions.

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Mutations in the and genes, encoding laforin and malin proteins respectively, are responsible for Lafora disease, a fatal form of progressive myoclonus epilepsy with autosomal recessive inheritance. Neuroimaging studies of patients with Lafora disease have shown different degrees of brain atrophy, decreased glucose brain uptake and alterations on different brain metabolites mainly in the frontal cortex, basal ganglia and cerebellum. Mice deficient for laforin and malin present many features similar to those observed in patients, including cognitive, motor, histological and epileptic hallmarks.

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Pay-for-Performance (P4P) schemes have become increasingly common internationally, yet evidence of their effectiveness remains ambiguous. P4P has been widely used in England for over a decade both in primary and secondary care. A prominent P4P programme in secondary care is the Commissioning for Quality and Innovation (CQUIN) framework.

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Article Synopsis
  • * Recent findings link pathogenic mutations in the DYRK1A gene, associated with Down syndrome, to specific autism spectrum conditions, affecting its enzymatic function.
  • * Research shows that mice lacking one copy of the Dyrk1a gene exhibit symptoms similar to autism, including social deficits and abnormal neuron proportions, suggesting that disruptions in neuron development may lead to these neurological issues.
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Diagnosis of arrhythmic disorders is challenging because of their short-lasting, intermittent character. Conventional technologies of noninvasive ambulatory rhythm monitoring are limited by modest sensitivity. We present a novel form of wearable electrocardiogram (ECG) sensors providing an alternative tool for long-term rhythm monitoring with the potential of increased sensitivity to detect intermittent or subclinical arrhythmia.

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Upon gastrulation, the mammalian conceptus transforms rapidly from a simple bilayer into a multilayered embryo enveloped by its extra-embryonic membranes. Impaired development of the amnion, the innermost membrane, causes major malformations. To clarify the origin of the mouse amnion, we used single-cell labelling and clonal analysis.

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Patients with dementia present epilepsy more frequently than the general population. Seizures are more common in patients with Alzheimer's disease (AD), dementia with Lewy bodies (LBD), frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP) than in other dementias. Missense mutations in the microtubule associated protein tau (MAPT) gene have been found to cause familial FTD and PSP, while the P301S mutation in MAPT has been associated with early-onset fast progressive dementia and the presence of seizures.

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Aim: This study determined if blood levels of beta-hydroxybutyrate were associated with the rate of failure in oral rehydration in paediatric patients with vomiting.

Methods: This was a prospective observational study that was carried out from December 1, 2015 to November 30, 2016 in the Rio Hortega University Hospital, Valladolid, Spain. The study cohort were patients up to 14 years old who attended the emergency department with three or more vomiting episodes in the last four hours and glycaemia higher than 45 mg/dL.

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Background: The increase in overweight and obesity in adolescents and its health-related consequences highlight the need to develop strategies, which could help them adopt healthy eating habits. The objective of this study was to evaluate the impact of an innovative web-based school nutrition intervention (Team Nutriathlon) aimed at promoting the consumption of vegetables and fruit (V/F) and milk and alternatives (M/A) in high school students and to identify facilitators and/or barriers influencing its success.

Methods: Ten classes of first and second year secondary students (grades 7 and 8) from the Québec City region were randomized into two groups (control n = 89 and intervention n = 193).

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This study evaluated the impact of probiotic supplementation (Lactobacillus rhamnosus CGMCC1.3724 (LPR)) on appetite sensations and eating behaviors in the context of a weight-reducing program. Obese men ( = 45) and women ( = 60) participated in a double-blind, randomized, placebo-controlled trial that included a 12-week weight loss period (Phase 1) based on moderate energy restriction, followed by 12 weeks of weight maintenance (Phase 2).

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Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. In the absence of laforin or malin expression, mice also show different degrees of hyperexcitability, as reflected by an enhanced response to the convulsant drug pentylenetetrazol (PTZ).

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