Cellular Senescence in Diffuse Gliomas: From Physiopathology to Possible Treatments.

Cellular senescence in gliomas is a complex process that is induced by aging and replication, ionizing radiation, oncogenic stress, and the use of temozolomide. However, the escape routes that gliomas must evade senescence and achieve cellular immortality are much more complex, in which the expression of telomerase and the alternative lengthening of telomeres, as well as the mutation of some proto-oncogenes or tumor suppressor genes, are involved. In gliomas, these molecular mechanisms related to cellular senescence can have a tumor-suppressing or promoting effect and are directly involved in tumor recurrence and progression.

Global transcriptomic network analysis of the crosstalk between microbiota and cancer-related cells in the oral-gut-lung axis.

Background: The diagnosis and treatment of lung, colon, and gastric cancer through the histologic characteristics and genomic biomarkers have not had a strong impact on the mortality rates of the top three global causes of death by cancer.

Methods: Twenty-five transcriptomic analyses (10 lung cancer, 10 gastric cancer, and 5 colon cancer datasets) followed our own bioinformatic pipeline based on the utilization of specialized libraries from the R language and DAVID´s gene enrichment analyses to identify a regulatory metafirm network of transcription factors and target genes common in every type of cancer, with experimental evidence that supports its relationship with the unlocking of cell phenotypic plasticity for the acquisition of the hallmarks of cancer during the tumoral process. The network's regulatory functional and signaling pathways might depend on the constant crosstalk with the microbiome network established in the oral-gut-lung axis.

The potential of miRNA-based approaches in glioblastoma: An update in current advances and future perspectives.

Glioblastoma (GBM) is the most common malignant central nervous system tumor. The emerging field of epigenetics stands out as particularly promising. Notably, the discovery of micro RNAs (miRNAs) has paved the way for advancements in diagnosing, treating, and prognosticating patients with brain tumors.

Orthogonal analysis of mitochondrial function in Parkinson's disease patients.

The etiopathology of Parkinson's disease has been associated with mitochondrial defects at genetic, laboratory, epidemiological, and clinical levels. These converging lines of evidence suggest that mitochondrial defects are systemic and causative factors in the pathophysiology of PD, rather than being mere correlates. Understanding mitochondrial biology in PD at a granular level is therefore crucial from both basic science and translational perspectives.

Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.

The FMR1 5' regulation gene region harbors a CGG trinucleotide repeat expansion (CGG-TRE) that causes Fragile X syndrome (FXS) when it expands to more than 200 repetitions. Ricaurte is a small village in southwestern Colombia, with an FXS prevalence of 1 in 38 men and 1 in 100 women (~100 times higher than the worldwide reported prevalence), defining Ricaurte as the largest FXS cluster in the world. In the present study, using next-generation sequencing of whole exome capture, we genotype 55 individuals from Ricaurte (49 with either full mutation or with premutation), four individuals from neighboring villages (with either the full mutation or with the premutation), and one unaffected woman, native of Ricaurte, who did not belong to any of the affected families.

Understanding the molecular profiling of diffuse gliomas classification: A brief overview.

Background: Gliomas represent almost 30% of all primary brain tumors and account for 80% of malignant primary ones. In the last two decades, significant progress has been made in understanding gliomas' molecular origin and development. These advancements have demonstrated a remarkable improvement in classification systems based on mutational markers, which contribute paramount information in addition to traditional histology-based classification.

Predicting attitudinal and behavioral responses to COVID-19 pandemic using machine learning.

At the beginning of 2020, COVID-19 became a global problem. Despite all the efforts to emphasize the relevance of preventive measures, not everyone adhered to them. Thus, learning more about the characteristics determining attitudinal and behavioral responses to the pandemic is crucial to improving future interventions.

Severe Vaginal Myiasis: Successful Management With Ivermectin.

Myiasis refers to infestation of living animals or humans by maggots or fly larvae. Urogenital myiasis is a rare condition that is linked to poor sanitary conditions and limited access to healthcare and with few published case reports. Here, we describe the case of a 67-year-old homeless woman with multiple comorbidities, who presented with extensive vaginal myiasis requiring inpatient management with ivermectin, ceftriaxone, and metronidazole and daily larvae extraction and debridement.

National identity predicts public health support during a global pandemic.

Changing collective behaviour and supporting non-pharmaceutical interventions is an important component in mitigating virus transmission during a pandemic. In a large international collaboration (Study 1, N = 49,968 across 67 countries), we investigated self-reported factors associated with public health behaviours (e.g.

Coexpression network analysis identified lncRNAs-mRNAs with potential relevance in African ancestry prostate cancer.

Aim: This study aims to investigate similarities and differences using lncRNA and mRNA coexpression network analysis in African ancestry (AA) and European ancestry (EA) among prostate cancer (PCa) patients.

Methods: We performed weighted gene coexpression network analysis of the expression from 49 of AA and 49 of EA to identify lncRNAs-mRNAs.

Results: 27 lncRNAs and 36 mRNAs were highly expressed in patients of AA.

Fragile X Syndrome Secondary to in Vitro Fertilization With a Family Egg Donor: A Case Report and Review of the Literature.

To evidence the need for screening fragile X syndrome (FXS) in egg donors in assisted reproduction protocols. This is the report of a boy with FXS who inherited the mutated allele from an ovule donated by the mother´s sister through an assisted reproduction protocol. Identifying premutation (PM) carriers of FXS amongst gamete donors isn't part of the obligatory genetic analysis for donors and is only considered by most of the in vitro fertility societies and guidelines as part of the extension screening tests.

Generation, characterization, and drug sensitivities of 12 patient-derived IDH1-mutant glioma cell cultures.

Background: Mutations of the isocitrate dehydrogenase () gene occur in over 80% of low-grade gliomas and secondary glioblastomas. Despite considerable efforts, endogenous -mutated glioma models remain scarce. Availability of these models is key for the development of new therapeutic interventions.

Diabetes Mellitus Type 1 has a Higher Impact on Corneal Endothelial Cell Density and Pachymetry than Diabetes Mellitus Type 2, Independent of Age: A Meta-Regression Model.

Purpose: Patients with diabetes mellitus (DM) often have keratopathy. However, the compromise of the corneal endothelium in type 1 DM (T1DM) and type 2 DM (T2DM) has so far not been well characterized.

Methods: We performed a systematic literature search to find articles on humans combining T1DM and/or T2DM and the corneal endothelium.

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.

Fragile X syndrome (FXS), is an X-linked inherited genetic disease. FXS is the leading cause of inherited intellectual disability and autism in the world. Those affected are characterized by intellectual disability, language deficit, typical facies, and macroorchidism.

TARP syndrome associated with renal malformation and optic nerve atrophy.

Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenital disease caused by mutations in the RBBM10 gene. It has a low prevalence and a high rate of mortality in the neonatal stage. In this case report, we present a case of a 32-week gestational age preterm newborn with a prenatal diagnosis of intrauterine growth restriction, with a persistent left superior vena cava, interatrial communication and a horseshoe kidney.

Gender and Polysomnographic Profiles Findings in Obstructive Sleep Apnea Syndrome Patients Living in High Altitude.

Purpose: Obstructive sleep apnea (OSA) is a common sleep disorder which prevalence is 22% in men and 17% in women. It is well described that females presented different clinical and polysomnographic characteristics compared with men. Those studies were performed in plain areas.

Double Genetic Hit: Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder.

Background: Fragile X syndrome (FXS) is an X-linked genetic disorder caused by the absence of the fragile X mental retardation 1 protein. FXS is the most common inherited cause of intellectual disability and autism spectrum disorder (ASD). Approximately 60% of subjects with FXS present with ASD, and 2% to 4% of individuals diagnosed with ASD have FXS.

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

Background: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity.

Identification of candidate miRNAs in early-onset and late-onset prostate cancer by network analysis.

The incidence of patients under 55 years old diagnosed with Prostate Cancer (EO-PCa) has increased during recent years. The molecular biology of PCa cancer in this group of patients remains unclear. Here, we applied weighted gene coexpression network analysis of the expression of miRNAs from 24 EO-PCa patients (38-45 years) and 25 late-onset PCa patients (LO-PCa, 71-74 years) to identify key miRNAs in EO-PCa patients.

In silico and in vitro analysis of cation-activated potassium channels in human corneal endothelial cells.

The corneal endothelium is the inner cell monolayer involved in the maintenance of corneal transparence by the generation of homeostatic dehydration. The glycosaminoglycans of the corneal stroma develop a continuous swelling pressure that should be counteracted by the corneal endothelial cells through active transport mechanisms to move the water to the anterior chamber. Protein transporters for sodium (Na), potassium (K), chloride (Cl) and bicarbonate (HCO) are involved in this endothelial "pump function", however despite its physiological importance, the efflux mechanism is not completely understood.