Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.

Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.

Implications of noncoding regulatory functions in the development of insulinomas.

Insulinomas are rare neuroendocrine tumors arising from pancreatic β cells, characterized by aberrant proliferation and altered insulin secretion, leading to glucose homeostasis failure. With the aim of uncovering the role of noncoding regulatory regions and their aberrations in the development of these tumors, we coupled epigenetic and transcriptome profiling with whole-genome sequencing. As a result, we unraveled somatic mutations associated with changes in regulatory functions.

Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.

Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life.

Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

Objectives: We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region.

Methods: Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS.

Topology detection in cavity QED.

We explore the physics of topological lattice models immersed in c-QED architectures for arbitrary coupling strength with the photon field. We propose the use of the cavity transmission as a topological marker and study its behaviour. For this, we develop an approach combining the input-output formalism with a Mean-Field plus fluctuations description of the setup.

MacroH2As regulate enhancer-promoter contacts affecting enhancer activity and sensitivity to inflammatory cytokines.

MacroH2A histone variants have a function in gene regulation that is poorly understood at the molecular level. We report that macroH2A1.2 and macroH2A2 modulate the transcriptional ground state of cancer cells and how they respond to inflammatory cytokines.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes.

Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations.

The New Generation of Professional Soccer Talent Is Born under the Bias of the RAE: Relative Age Effect in International Male Youth Soccer Championships.

In 2019, numerous championships of youth categories soccer national teams were held. In the present study, we analyzed the existence of the Relative Age Effect (RAE) in four major male championships that, due to their importance and participating teams, most likely brought together the great bulk of the players who will dominate professional soccer in the next decade. Participants were professional and amateur youth male soccer players who participated in the last international championships: UEFA European Under-21 Championship (2017-2019); UEFA European Under-19 Championship (2019); South American Youth Football Championship (also known as Conmebol U-20) (2019); and FIFA U-20 World Cup (2019), with 823 players (20.

Hepatic transplant during SARS-CoV-2 (COVID-19) pandemic. A literature review.

Antecedentes: En diciembre de 2019 se identificó en la ciudad de Wuhan, China, un nuevo beta coronavirus, el SARS-CoV-2, como agente causal de neumonía grave, conocida como COVID-19, lo cual ha provocado medidas estrictas de aislamiento, cierre de programas de trasplante hepático y la necesidad de modificar los protocolos de tratamiento.

Objetivo: Documentar la información publicada sobre el impacto de la COVID-19 en la población con antecedente de trasplante hepático y establecer un protocolo de tratamiento.

MÉtodo: Se buscaron en PubMed los términos MeSH "SARS-CoV-2", "COVID-19", "trasplante hepático" y "tratamiento".

The β-Cell Genomic Landscape in T1D: Implications for Disease Pathogenesis.

Purpose Of Review: Type 1 diabetes (T1D) develops as a consequence of a combination of genetic predisposition and environmental factors. Combined, these events trigger an autoimmune disease that results in progressive loss of pancreatic β cells, leading to insulin deficiency. This article reviews the current knowledge on the genetics of T1D with a specific focus on genetic variation in pancreatic islet regulatory networks and its implication to T1D risk and disease development.

Pharmacologic management of patients with hepatic and pancreatic diseases that involve immunosuppressive therapies. Position statement within the framework of the SARS-CoV-2 (COVID-19) pandemic.

The coronavirus disease 2019 (COVID-19) is caused by the severe acute respiratory syndrome coronavirus2 (SARS-CoV-2) virus. COVID-19 affected more than 6million persons worldwide in fewer than 4 months, after the report of the first cases in China in December 2019. The relation of the disease caused by SARS-Cov-2 to immunosuppressive treatment used in different gastrointestinal disorders is uncertain, resulting in debate with regard to suspending immunosuppressive therapy to improve infection outcome.

Knowledge of Latin American gastroenterologists and endoscopists regarding SARS-CoV-2 infection.

Introduction: After the World Health Organization declared the COVID-19 outbreak a pandemic, the number of patients with confirmed SARS-CoV-2 infection (COVID-19) has increased exponentially, and gastroenterologists and other specialists most likely will be involved in the care of those patients.

Aim: To evaluate the knowledge Latin American gastroenterologists and endoscopists (staff physicians and residents) have about the characteristics of COVID-19, as well as the prevention measures to be taken during endoscopic procedures.

Materials And Methods: We conducted a cross-sectional study that included gastroenterologists and endoscopists from 9 Latin American countries.

Are European Soccer Players Worth More If They Are Born Early in the Year? Relative Age Effect on Player Market Value.

The relative age effect (RAE) consists of the lower presence of members of an age group born in the months furthest from the age cut-off date established. In youth soccer, it is known that because of this effect the birth dates of more players in a team are closer to the cutoff of 1 January. These older players, due to their physical and psychological advantages, are more likely to be identified as talent.

Simulation of 1D Topological Phases in Driven Quantum Dot Arrays.

We propose a driving protocol which allows us to use quantum dot arrays as quantum simulators for 1D topological phases. We show that by driving the system out of equilibrium, one can imprint bond order in the lattice (producing structures such as dimers, trimers, etc.) and selectively modify the hopping amplitudes at will.

Selection and promotion processes are not associated by the relative age effect in an elite Spanish soccer academy.

The aim of this study was to analyze the influence of the relative age effect (RAE) on the selection and promotion processes in an elite soccer academy. One hundred and eleven elite youth players who belonged to an elite soccer club from the Spanish "La Liga" participated in this study. Players were classified into three age-categories: under 14 years (U14), under 16 years (U16) and under 18 years (U18); and they were also classified in quartiles based on their date of birth (i.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes.

Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations.

DNA methylation in thyroid cancer.

In recent years, cancer genomics has provided new insights into genetic alterations and signaling pathways involved in thyroid cancer. However, the picture of the molecular landscape is not yet complete. DNA methylation, the most widely studied epigenetic mechanism, is altered in thyroid cancer.

A Higher Fructose Intake Is Associated with Greater Albuminuria in Subjects with Type 2 Diabetes Mellitus.

The aim of this single center cross-sectional study was to investigate the association between fructose intake and albuminuria in subjects with type 2 diabetes mellitus (T2DM). This is a single center cross-sectional study. One hundred and forty-three subjects with T2DM were recruited from the Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran.

Influence of body mass loss and myoglobinuria on the development of muscle fatigue after a marathon in a warm environment.

The aim of this study was to determine the changes in body mass and myoglobinuria concentration in recreational runners during a marathon in a warm environment, and the relation of these changes to muscle fatigue. We recruited 138 amateur runners (114 men and 24 women) for the study. Before the race, leg muscle power output was measured during a countermovement jump on a force platform, body weight was measured, and a urine sample was obtained.

Running pace decrease during a marathon is positively related to blood markers of muscle damage.

Background: Completing a marathon is one of the most challenging sports activities, yet the source of running fatigue during this event is not completely understood. The aim of this investigation was to determine the cause(s) of running fatigue during a marathon in warm weather.

Methodology/principal Findings: We recruited 40 amateur runners (34 men and 6 women) for the study.

Muscle damage and its relationship with muscle fatigue during a half-iron triathlon.

Background: To investigate the cause/s of muscle fatigue experienced during a half-iron distance triathlon.

Methodology/principal Findings: We recruited 25 trained triathletes (36±7 yr; 75.1±9.