Search results for "BST"

A conditional inducible JAK2V617F transgenic mouse model reveals myeloproliferative disease that is reversible upon switching off transgene expressio…

2019

Aberrant activation of the JAK/STAT pathway is thought to be the critical event in the pathogenesis of the chronic myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia and primary myelofibrosis. The most frequent genetic alteration in these pathologies is the activating JAK2V617F mutation, and expression of the mutant gene in mouse models was shown to cause a phenotype resembling the human diseases. Given the body of genetic evidence, it has come as a sobering finding that JAK inhibitor therapy only modestly suppresses the JAK2V617F allele burden, despite showing clear benefits in terms of reducing splenomegaly and constitutional symptoms in patients. To gain a better …

The Role of Sirtuin1 in Regulating Endothelial Function, Arterial Remodeling and Vascular Aging

2019

Sirtuin1 (SIRT1), which belongs to a highly conserved family of protein deacetylase, is one of the best-studied sirtuins. SIRT1 is involved in a variety of biological processes, including energy metabolism, cell proliferation and survival, chromatin dynamics, and DNA repair. In the vasculature, SIRT1 is ubiquitously expressed in endothelial cells, smooth muscle cells, and perivascular adipose tissues (PVAT). Endothelial SIRT1 plays a unique role in vasoprotection by regulating a large variety of proteins, including endothelial nitric oxide synthase (eNOS). In endothelial cells, SIRT1 and eNOS regulate each other synergistically through positive feedback mechanisms for the maintenance of end…

Fat-soluble nutrients and Omega-3 fatty acids as modifiable factors influencing preterm birth risk

2019

Preterm birth is a leading cause of child morbidity and mortality, so strategies to reduce early birth must remain a priority. One key approach to enhancing birth outcomes is improving maternal dietary intake. Therefore, the purpose of this review is to discuss mechanisms on perinatal status of fat-soluble nutrients (carotenoids, retinol, tocopherols) and omega-3 fatty acids and how they impact risk for preterm birth. Literature review demonstrates that maternal dietary intake and biological (blood and placental tissue) levels of fat-soluble nutrients during pregnancy may provide antioxidative, anti-inflammatory, and immunomodulatory health benefits. Omega-3 fatty acids also promote increas…

To invade, or to observe, that is the question

2018

Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases.

2021

Background: Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. Methods: A bibliographic review was performed on the MEDLINE and Web of S…

Violent offending in borderline personality disorder and attention deficit/hyperactivity disorder.

2018

Abstract The prevalence of borderline personality disorder (BPD) and attention deficit/hyperactivity disorder (ADHD) is significantly higher among offenders compared to the prevalence found in the general population. Both disorders share important diagnostic characteristics and thus it has been suggested that they might follow a common developmental pathway. In this narrative review, we first discuss the potential links of disorder inherent symptoms such as impulsivity and emotion regulation difficulties and how they might elevate the risk of violent delinquency. We continue with highlighting that comorbidities particularly from the antisocial spectrum as well as comorbid substance use diso…

Evidence that the endometrial microbiota has an effect on implantation success or failure

2016

Background Bacterial cells in the human body account for 1–3% of total body weight and are at least equal in number to human cells. Recent research has focused on understanding how the different bacterial communities in the body (eg, gut, respiratory, skin, and vaginal microbiomes) predispose to health and disease. The microbiota of the reproductive tract has been inferred from the vaginal bacterial communities, and the uterus has been classically considered a sterile cavity. However, while the vaginal microbiota has been investigated in depth, there is a paucity of consistent data regarding the existence of an endometrial microbiota and its possible impact in reproductive function. Objecti…

Embryo morphokinetics analysis and reproductive outcomes with assisted oocyte activation by a calcium ionophore after prior fertilization failure. A …

2020

Abstract Background Fertilization failure or low fertilization rate after ICSI is around 1–3% in IVF treatments. Several strategies have been studied in order to bypass the lack of activation. The aim of this study is to evaluate embryo morphokinetics and reproductive outcomes after intracytoplasmic sperm injection (ICSI) with assisted oocyte activation (AOA) using a calcium ionophore (CaI) in patients with previous fertilization failure or low fertilization rate (under 30%) and severe male factor. Methods Multicentric retrospective cohort study including 70 patients with fertilization failure or low fertilization rate and severe male factor (sperm concentration under 1 million/mL) who unde…

Introduction

2019

Timely and appropriate medical care can significantly influence the health of a newborn. When considering how to best deliver such care, we must first note that each human represents the result of a balance between nature (genetics) and nurture (environment). Importantly, while most of our care is centered on in utero development, the preconception period is also a time at which genetic and environmental factors can interact to exert effects that ultimately influence the health of the future offspring. In this issue's Views and Reviews, we provide data to suggest that modern preconceptional care should become a key component of reproductive medicine, not only to improve implantation and pre…

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

2018

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha