Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community.

Purpose: Despite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure.

Methods: We conducted a survey targeting health care providers who offer genetic counseling to patients with cancer and possess training in genetics and counseling. Additionally, we distributed a separate survey to high-risk patients associated with an advocacy group to gather insights on their perceptions of and experiences with cancer genetic counseling.

[What we know today about solitary rectal ulcer syndrome].

Solitary Rectal Ulcer Syndrome (SRUS) is a rare defecation disorder with varied clinical manifestations and often presents challenges in diagnosis. To date, there is no definitive treatment for SRUS. However, there is consensus that treatment should be individualized, multimodal, and focused on addressing potential causes of the disease.

Continuing benefits of the Montreal Protocol and protection of the stratospheric ozone layer for human health and the environment.

The protection of Earth's stratospheric ozone (O) is an ongoing process under the auspices of the universally ratified Montreal Protocol and its Amendments and adjustments. A critical part of this process is the assessment of the environmental issues related to changes in O. The United Nations Environment Programme's Environmental Effects Assessment Panel provides annual scientific evaluations of some of the key issues arising in the recent collective knowledge base.

Mortality Due to Acute Respiratory Distress Syndrome in Latin America.

Objectives: Mortality due to acute respiratory distress syndrome (ARDS) is a major global health problem. Knowledge of epidemiological data on ARDS is crucial to design management, treatment strategies, and optimize resources. There is ample data regarding mortality of ARDS from high-income countries; in this review, we evaluated mortality due to ARDS in Latin America.

A Scoping Review.

We conducted a scoping review to map and critically examine the knowledge, perceptions and utilization of generics and biosimilars, among physicians, pharmacists, patients, the general population, and other stakeholders from LAC.

Sleep impairment and altered pattern of circadian biomarkers during a long-term Antarctic summer camp.

Antarctic expeditions include isolation and exposure to cold and extreme photoperiods (with continuous natural light during summer) that may influence psychophysiological responses modulated by luminosity and sleep. We assessed changes in night sleep patterns by actigraphy, salivary biomarkers, and perceptual variables in seven participants in the following time points along a 50-day camping expedition in Antarctica (Nelson Island): Pre-Field (i.e.

[Relevance and feasibility of reforms to create a universal health system in ChileRelevância e viabilidade de uma reforma para a criação de um sistema de saúde universal no Chile].

The health system in Chile is well developed, with broad national coverage. However, organizational limitations necessitate urgent structural reform due to a lack of resources and poor performance, with segmentation and inequity. The government's program for 2022-2026 proposes substantial reforms aimed at creating a universal health system.

A 7-Week Summer Camp in Antarctica Induces Fluctuations on Human Oral Microbiome, Pro-Inflammatory Markers and Metabolic Hormones Profile.

Antarctic camps pose psychophysiological challenges related to isolated, confined, and extreme (ICE) conditions, including meals composed of sealed food. ICE conditions can influence the microbiome and inflammatory responses. Seven expeditioners took part in a 7-week Antarctic summer camp (Nelson Island) and were evaluated at Pre-Camp (i.

Cardiovascular and autonomic dysfunction in long-COVID syndrome and the potential role of non-invasive therapeutic strategies on cardiovascular outcomes.

A significant percentage of COVID-19 survivors develop long-lasting cardiovascular sequelae linked to autonomic nervous system dysfunction, including fatigue, arrhythmias, and hypertension. This post-COVID-19 cardiovascular syndrome is one facet of "long-COVID," generally defined as long-term health problems persisting/appearing after the typical recovery period of COVID-19. Despite the fact that this syndrome is not fully understood, it is urgent to develop strategies for diagnosing/managing long-COVID due to the immense potential for future disease burden.

Maternal sensitivity in early childhood and body mass index in adolescence: A population-based study on the role of self-regulation as a mediator.

Maternal sensitivity has been implicated in various aspects of child health and development, including overweight. However, long-term effects, the role of paternal sensitivity and the explanatory pathways are unclear. This study examined whether maternal sensitivity in early childhood is prospectively associated with adolescent body mass index and whether children's self-regulation mediates this relation.

Clinical Efficacy of SARS-CoV-2 Vaccination in Hemodialysis Patients.

Introduction: The COVID-19 pandemic is a global public health problem. Patients with end-stage renal disease on hemodialysis are at a higher risk of infection and mortality than the general population. Worldwide, a vaccination campaign has been developed that has been shown to reduce severe infections and deaths in the general population.

[Immune checkpoint inhibitors. A breakthrough in cancer therapy].

Professors James P. Allison and Tasuku Honjo were awarded with the 2018 Nobel Prize in Medicine for their contributions in cancer immunotherapy. The latter is a breakthrough in cancer therapy, aimed to overcome tumor-induced immunosuppression, leading to the reactivation of the immune system against cancer cells.

[Clinical and epidemiological characteristics of the Philadelphia negative myeloproliferative neoplasms in Chile].

Background: Philadelphia-negative myeloproliferative neoplasms (Ph-MPN) are chronic hematological disorders characterized by the overproduction of one or more mature myeloid blood cell lineages. Classical Ph-MPN are polycythemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF).

Aim: To assess the epidemiological, clinical and diagnostic characteristics of Ph-MPN in Chile.

Differential neutralizing antibody responses elicited by CoronaVac and BNT162b2 against SARS-CoV-2 Lambda in Chile.

SARS-CoV-2 variant Lambda was dominant in several South American countries, including Chile. To ascertain the efficacy of local vaccination efforts, we used pseudotyped viruses to characterize the neutralization capacity of antibodies elicited by CoronaVac (n = 53) and BNT162b2 (n = 56) in healthcare workers from Clínica Santa María and the Faculty of Medicine at Universidad de Chile, as well as in convalescent plasma from individuals infected during the first wave visiting the Hospital Clínico at Pontificia Universidad Católica (n = 30). We observed that BNT162b2 elicits higher neutralizing antibody titres than CoronaVac, with differences ranging from 7.

AID overexpression leads to aggressive murine CLL and nonimmunoglobulin mutations that mirror human neoplasms.

Most cancers become more dangerous by the outgrowth of malignant subclones with additional DNA mutations that favor proliferation or survival. Using chronic lymphocytic leukemia (CLL), a disease that exemplifies this process and is a model for neoplasms in general, we created transgenic mice overexpressing the enzyme activation-induced deaminase (AID), which has a normal function of inducing DNA mutations in B lymphocytes. AID not only allows normal B lymphocytes to develop more effective immunoglobulin-mediated immunity, but is also able to mutate nonimmunoglobulin genes, predisposing to cancer.

Radiotherapy for cervical cancer: Chilean consensus of the Society of Radiation Oncology.

Background: Cervical cancer is a public health problem in Latin America. Radiotherapy plays a fundamental role both as definitive or adjuvant treatment. There are important intra and inter-country differences regarding access and availability of radiotherapy facilities in this region.

Overall Survival in Patients With Resected Glioblastoma Treated With Adjuvant Therapy: A Retrospective Study in a Public Hospital in Chile.

Glioblastoma (GB) is the most frequent and aggressive primary tumor of the central nervous system (CNS) in adults. Standard treatment is complete tumor resection followed by concomitant radiochemotherapy (RCT) and subsequent adjuvant temozolomide (TMZ). Information about brain tumors statistics in Latin American countries is scarce, so we aimed to measure the overall survival (OS) of patients with resected GB in a single institution in Chile.

Mutation in a SARS-CoV-2 Haplotype from Sub-Antarctic Chile Reveals New Insights into the Spike's Dynamics.

The emergence of SARS-CoV-2 variants, as observed with the D614G spike protein mutant and, more recently, with B.1.1.

High versus low positive end-expiratory pressure (PEEP) levels for mechanically ventilated adult patients with acute lung injury and acute respiratory distress syndrome.

Background: In patients with acute lung injury (ALI) and acute respiratory distress syndrome (ARDS), mortality remains high. These patients require mechanical ventilation, which has been associated with ventilator-induced lung injury. High levels of positive end-expiratory pressure (PEEP) could reduce this condition and improve patient survival.

Diaphragm pacing in a pediatric patient with Acquired Central Hypoventilation syndrome.

Introduction: Diaphragmatic pacemaker is a device that reduces or eliminates the need of mechanical ventilation in patients with chronic respiratory failure who keep the phrenic nerve-diaphragm axis intact, as long as they do not present intrinsic lung disease. Although its implantation has been practiced for deca des, its use is not widespread and to date, there is little published literature about it, mostly related to high spinal cord injury and congenital central hypoventilation syndrome.

Objective: To describe an experience of diaphragmatic pacemaker implantation in a pediatric patient with acquired cen tral hypoventilation syndrome.

General care in the management of severe traumatic brain injury: Latin American consensus.

Severe traumatic brain injury (sTBI) remains prevalent in the young adult population. Indeed, far from descending, the incidence of sTBI remains high. One of the key bases of treatment is to avoid, detect and correct secondary injuries of systemic origin, which aggravate the primary lesion.