This is the first episode of a series of four discussions on the differences between males and females, in apparently non-andrological fields. You will read the transcript of discussions that actually took place at the Endocrinology Unit in Modena, Italy, in the form of the aporetic dialogues of ancient Greece. In this episode, the role of testosterone in gender differences in criminal behavior will be explored.
View Article and Find Full Text PDFBraz J Otorhinolaryngol
September 2024
Objectives: Percutaneous Vocal Fold Lateralization (PVFL) consists of external fixation with non-absorbable percutaneous suture of the vocal fold in a lateral position, under direct glottic visualization. The objective of this study is to determine the effectiveness of PVFL in a university pediatric hospital, as well as to describe the potential risks and complications of the surgery.
Methods: Retrospective cohort study, with data collected from electronic medical records.
Am J Physiol Cell Physiol
February 2024
The medaka fish () is a vertebrate model used in developmental biology and genetics. Here we explore its suitability as a model for investigating the molecular mechanisms of human myopathies caused by mutations in sarcomeric proteins. To this end, the relevant mechanical parameters of the intact skeletal muscle of wild-type medaka are determined using the transparent tail at larval stage 40.
View Article and Find Full Text PDFVision impairment places a serious burden on the aging society, affecting the lives of millions of people. Many retinal diseases are of genetic origin, of which over 50% are due to mutations in cilia-associated genes. Most research on retinal degeneration has focused on the ciliated photoreceptor cells of the retina.
View Article and Find Full Text PDFThe skeletal dysplasia spondyloepiphyseal dysplasia tarda (SEDT) is caused by mutations in the TRAPPC2 gene, which encodes Sedlin, a component of the trafficking protein particle (TRAPP) complex that we have shown previously to be required for the export of type II collagen (Col2) from the endoplasmic reticulum. No vertebrate model for SEDT has been generated thus far. To address this gap, we generated a Sedlin knockout animal by mutating the orthologous TRAPPC2 gene (olSedl) of Oryzias latipes (medaka) fish.
View Article and Find Full Text PDFThe assembly of von Willebrand factor (VWF) into ordered helical tubules within endothelial Weibel-Palade bodies (WPBs) is required for the efficient deployment of the protein at sites of vascular injury. VWF trafficking and storage are sensitive to cellular and environmental stresses that are associated with heart disease and heart failure. Altered storage of VWF manifests as a change in WPB morphology from a rod shape to a rounded shape and is associated with impaired VWF deployment during secretion.
View Article and Find Full Text PDFBardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, renal abnormalities, postaxial polydactyly, and developmental defects. Genes mutated in BBS encode for components and regulators of the BBSome, an octameric complex that controls the trafficking of cargos and receptors within the primary cilium. Although both structure and function of the BBSome have been extensively studied, the impact of ubiquitin signaling on BBSome is largely unknown.
View Article and Find Full Text PDFSequencing of most genomes excludes repeat regions in and the gene, encoding the acidic repeat protein (). As a first step to understanding the evolution and function of these genes and the proteins they encode, we developed a protocol to nanopore sequence and genes from 212 clinical samples collected from ten countries on six continents. Both and repeat structures recapitulate the whole genome phylogeny, with subclade-specific patterns emerging.
View Article and Find Full Text PDFAutophagy is a critical metabolic process that acts as a major self-digestion and recycling pathway contributing to maintain cellular homeostasis. An emerging field of research supports the therapeutic modulation of autophagy for treating human neurodegenerative disorders, in which toxic aggregates are accumulated in neurons. Our previous study identified Ezrin protein as an inhibitor of autophagy and lysosomal functions in the retina; thus, in turn, identifying it as a potential pharmacological target for increasing retinal cell clearance to treat inherited retinal dystrophies in which misfolded proteins have accumulated.
View Article and Find Full Text PDFIn response to vascular damage, P-selectin molecules are secreted onto the surface of cells that line our blood vessels. They then serve as mechanical anchors to capture leucocytes from the blood stream. Here, we track individual P-selectin molecules released at the surface of live endothelial cells following stimulated secretion.
View Article and Find Full Text PDFFish have colonized nearly all aquatic niches, making them an invaluable resource to understand vertebrate adaptation and gene family evolution, including the evolution of complex neural networks and modulatory neurotransmitter pathways. Among ancient regulatory molecules, the gaseous messenger nitric oxide (NO) is involved in a wide range of biological processes. Because of its short half-life, the modulatory capability of NO is strictly related to the local activity of nitric oxide synthases (Nos), enzymes that synthesize NO from L-arginine, making the localization of mRNAs a reliable indirect proxy for the location of NO action domains, targets, and effectors.
View Article and Find Full Text PDFZika virus (ZIKV) is a member of the Flaviviridae family that can cause neurological disorders and congenital malformations. The NS2B-NS3 viral serine protease is an attractive target for the development of new antiviral agents against ZIKV. We report here a SAR study on a series of substrate-like linear tripeptides that inhibit in a non-covalent manner the NS2B-NS3 protease.
View Article and Find Full Text PDFLysosomes are membrane-bound cell organelles that respond to nutrient changes and are implicated in cell homeostasis and clearance mechanisms, allowing effective adaptation to specific cellular needs. The relevance of the lysosome has been elucidated in a number of different contexts. Of these, the retina represents an interesting scenario to appreciate the various functions of this organelle in both physiological and pathological conditions.
View Article and Find Full Text PDFHigh Blood Press Cardiovasc Prev
March 2022
Introduction: Cardiovascular risk seems not to be greater in patients with white coat uncontrolled hypertension (WUCH) than in patients with sustained blood pressure (BP) control. Therefore, its detection is important to avoid overtreatment. The COVID-19 pandemic determined a massive migration of hypertension consultations from the face-to-face modality to teleconsultations, and it is unknown whether WUCH exists in this context.
View Article and Find Full Text PDFThe use of natural products in agriculture as pesticides has been strongly advocated. However, it is necessary to assess their toxicity to ensure their safe use. In the present study, mammalian cell lines and fish models of the zebrafish ( and medaka () have been used to investigate the toxic effects of ten natural products which have potential applications as biopesticides.
View Article and Find Full Text PDFBackground: Mindfulness-based intervention (MBI) may offer a novel means of preventing excess weight gain in adolescents, theoretically by decreasing stress-eating through altering executive functioning (EF) and food-reward sensitivity.
Methods: N = 54 12-17y girls and boys at-risk for excess weight gain (i.e.
von Willebrand factor (VWF) is an essential hemostatic protein that is synthesized and secreted by endothelial cells and stored in Weibel-Palade bodies (WPBs). The secretory Rab GTPases Rab27A, Rab3B, and Rab3D have been linked with WPB trafficking and secretion. How these Rabs are activated and recruited to WPBs remains elusive.
View Article and Find Full Text PDFBackground: Malaria control interventions have been scaled up, particularly those in pregnant women in Guinea. Despite that, coverage of key malaria preventive measure (MPM) indicators remains low. Therefore, it is vital to understand the reasons behind that, especially for the low coverage of sulfadoxine-pyrimethamine (SP) and long-lasting insecticide-treated bed nets (LLIN).
View Article and Find Full Text PDFObjective: To assess the prevalence of psychiatric disorders in patients with type 1 diabetes mellitus (T1D) and to compare patients with and without psychiatric disorder.
Methods: We made a cross-sectional study including patients with T1D assisted in the outpatient clinics of the Brazilian National Health System. To assess depression and anxiety, we used the PHQ-9 questionnaire and the DSM-5th edition criteria, respectively.
Plant extracts are rich in bioactive compounds, such as polyphenols, sesquiterpenes, and triterpenes, which potentially have antiviral activities. As a consequence of the coronavirus disease 2019 pandemic, caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus, thousands of scientists have been working tirelessly trying to understand the biology of this new virus and the disease pathophysiology, with the main goal of discovering effective preventive treatments and therapeutic agents. Plant-derived secondary metabolites may play key roles in preventing and counteracting the rapid spread of SARS-CoV-2 infections by inhibiting the activity of several viral proteins, in particular those involved in the virus entry into the host cells and its replication.
View Article and Find Full Text PDFThe retinal pigment epithelium (RPE) is a highly specialized monolayer of polarized, pigmented epithelial cells that resides between the vessels of the choriocapillaris and the neural retina. The RPE is essential for the maintenance and survival of overlying light-sensitive photoreceptors, as it participates in the formation of the outer blood-retinal barrier, phagocytosis, degradation of photoreceptor outer segment (POS) tips, maintenance of the retinoid cycle, and protection against light and oxidative stress. Autophagy is an evolutionarily conserved 'self-eating' process, designed to maintain cellular homeostasis.
View Article and Find Full Text PDFAdverse childhood experiences (ACEs) heighten the risk for adult obesity and cardiometabolic disease, but physiological factors underlying this connection are not well understood. We determined if ACEs were associated with physiological stress response and insulin resistance in adolescents at risk for adult obesity. Participants were 90 adolescents 12.
View Article and Find Full Text PDFThe primary cilium is a microtubule-based sensory organelle that dynamically links signalling pathways to cell differentiation, growth, and development. Genetic defects of primary cilia are responsible for genetic disorders known as ciliopathies. Orofacial digital type I syndrome (OFDI) is an X-linked congenital ciliopathy caused by mutations in the OFD1 gene and characterized by malformations of the face, oral cavity, digits and, in the majority of cases, polycystic kidney disease.
View Article and Find Full Text PDFSleep difficulties may be one explanatory factor in the association between depression and insulin resistance; yet, explicit tests of this hypothesis are lacking. We determined if there was an indirect effect of depression symptoms on insulin resistance through sleep duration in adolescents at risk for excess weight gain. We also investigated whether dispositional mindfulness moderated the interconnections among depression, sleep, and insulin resistance.
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