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.

Improved heterogeneity handling in the collapsed cone dose engine for brachytherapy.

Background: Model-based dose calculation algorithms (MBDCA), such as the Advanced Collapsed cone Engine (ACE) in Oncentra Brachy® can be used to overcome the limitations of the TG-43 formalism. ACE is a point kernel superposition algorithm that calculates the total dose separated into primary, first-scatter, and multiple-scatter dose. Albeit ACE yields accurate results under most circumstances, several studies have reported underestimations of the dose to cortical bone.

Hybrid Cardiac Rehabilitation Program in a Low-Resource Setting: A Randomized Clinical Trial.

Importance: While effective, cardiovascular rehabilitation (CR) as traditionally delivered is not well implemented in lower-resource settings.

Objective: To test the noninferiority of hybrid CR compared with traditional CR in terms of cardiovascular events.

Design, Setting, And Participants: This pragmatic, multicenter, parallel arm, open-label randomized clinical trial (the Hybrid Cardiac Rehabilitation Trial [HYCARET]) with blinded outcome assessment was conducted at 6 referral centers in Chile.

Different Safety Pattern of an Inactivated SARS-CoV-2 Vaccine (CoronaVac) According to Age Group in a Pediatric Population from 3 to 17 Years Old, in an Open-Label Study in Chile.

During the COVID-19 pandemic, the importance of vaccinating children against SARS-CoV-2 was rapidly established. This study describes the safety of CoronaVac in children and adolescents between 3- and 17-years-old in a multicenter study in Chile with two vaccine doses in a 4-week interval. For all participants, immediate adverse events (AEs), serious AEs (SAEs), and AEs of special interest (AESIs) were registered throughout the study.

Factors associated with prolonged mechanical ventilation in children with pulmonary failure: Cohort study from the LARed Network registry.

Objectives: To identify factors associated with prolonged mechanical ventilation (pMV) in pediatric patients in pediatric intensive care units (PICUs).

Design: Secondary analysis of a prospective cohort.

Setting: PICUs in centers that are part of the LARed Network between April 2017 and January 2022.

Challenges in Communicating a Genetic Diagnosis.

Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and disorientation for the family group, and sometimes in an inappropriate environment or under time constraints [...

[SARS-CoV-2 infection in people living with HIV. Topics on the global panorama and in Chile].

The COVID-19 disease is caused by the SARS-CoV-2 virus and was declared a pandemic by the WHO on March 11, 2020. To date, more than 500 million people have been infected and it has caused over 6 million deaths worldwide. People that belong to the most vulnerable risk groups, such as those at the extremes of life, patients with chronic comorbidities and those with severe immunosuppression, are especially susceptible to developing a severe form of COVID-19 infection and death.

A hybrid exercise-based cardiac rehabilitation program is an effective strategy to improve muscle strength and functional exercise capacity in adults and older people with coronary artery disease.

Coronary heart disease is the most common cause of death worldwide. Standard cardiac rehabilitation (face-to-face sessions) has shown benefits in increasing muscle strength and functional exercise capacity in adults and older people. However, it is unknown whether hybrid cardiac rehabilitation (a first face-to-face phase + a second remote monitoring phase) will have similar benefits in adults versus older subjects.

[Considerations in the transgender population regarding HIV infection, antiretroviral therapy, pre-exposure prophylaxis (PreP) and interaction with gender reaffirmation treatment].

HIV infection is a global epidemic, with a prevalence of 0.8%. In Latin America, Chile, Brazil and Uruguay are the countries with the highest rates.

A Monte Carlo study of the relative biological effectiveness in surface brachytherapy.

Purpose: This work aims to simulate clustered DNA damage from ionizing radiation and estimate the relative biological effectiveness (RBE) for radionuclide (rBT)- and electronic (eBT)-based surface brachytherapy through a hybrid Monte Carlo (MC) approach, using realistic models of the sources and applicators.

Methods: Damage from ionizing radiation has been studied using the Monte Carlo Damage Simulation algorithm using as input the primary electron fluence simulated using a state-of-the-art MC code, PENELOPE-2018. Two Ir rBT applicators, Valencia and Leipzig, one Co source with a Freiburg Flap applicator (reference source), and two eBT systems, Esteya and INTRABEAM, have been included in this study implementing full realizations of their geometries as disclosed by the manufacturer.

Two-Minute Step Test as a Complement to Six-Minute Walk Test in Subjects With Treated Coronary Artery Disease.

The 2-Minute Step Test (2MST) has been presented as an alternative to the 6-Minute Walk Test (6MWT) based on the association between the two tests in older adults; however, some authors propose that it should not be a substitute but rather a complement to the latter in the fitness evaluation. Specifically, in coronary disease, despite the potential and clinical utility of 2MST, the relationship of both tests in this population is unknown. This study aimed to determine the relationship between 6MWT and 2MST and to explore the relationship of biodemographic factors for both tests in subjects with treated coronary artery disease.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the gene. codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures.

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors.

[The impact of COVID-19 pandemic on doctor-patient relationship].

Doctor-patient relationship (DPR) is the cornerstone of clinical medicine, mobilizing powerful human resources. This article analyzes the impact of COVID-19 pandemia on DPR. Due to fear of contagion, the use of telephone or digital consultation was preferred, in which only the results of laboratory and imaging tests can be reviewed, and the patient receives a diagnostic conclusion.

[Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2].

In the framework of the vaccination campaign against the SARS-CoV-2 virus, the Chilean Ministry of Health requested advice from the Genetics Branch of the Chilean Society of Pediatrics, to define the level of prioritization for people with Down Syndrome . A panel of geneticists worked on the development of this consensus, in which not only patients with Down syndrome were included, but the search was extended to patients with other types of disabilities, in both pediatric and adult ages in or der to contribute to the development of public health measures against the COVID-19 pandemic. The consensus concludes that, given the prevalence of comorbidities associated with Down syndrome, the higher incidence of cases with severe COVID-19 in this population group and a higher mortality, individuals with trisomy 21 should be considered as a high-risk population, and therefore, vaccina tion against SARS-CoV-2 should have a high priority for all people with Down syndrome regardless of their age (except for the age limit established by the clinical trials of each vaccine), and should be preceded only by the groups of health personnel and adults aged > 60-65 years.

A study of Type B uncertainties associated with the photoelectric effect in low-energy Monte Carlo simulations.

To estimate Type B uncertainties in absorbed-dose calculations arising from the different implementations in current state-of-the-art Monte Carlo (MC) codes of low-energy photon cross-sections (<200 keV).MC simulations are carried out using three codes widely used in the low-energy domain: PENELOPE-2018, EGSnrc, and MCNP. Three dosimetry-relevant quantities are considered: mass energy-absorption coefficients for water, air, graphite, and their respective ratios; absorbed dose; and photon-fluence spectra.

[Mental health problems among health care workers during the COVID-19 pandemic].

Background: COVID-19 has effects on the mental health of health care workers.

Aim: To explore the presence of symptoms associated with mental health problems and associated risk factors in health workers.

Material And Methods: The questionnaires PHQ-9 for depression, GAD-7 for anxiety, ISI-7 for insomnia and IES-R-22 for psychological distress were applied to 125 health care workers aged 18 to 67 years (32 physicians, 22 nurses and 71 of other professions) laboring in hospitals and primary care facilities along Chile.

Uso de apósitos con TLC-NOSF en el manejo de la úlcera de pie diabético, basado en la revisión de la evidencia y la práctica clínica.

The incidence of diabetic foot ulcers (DFU) has increased in the past decade, both in Chile and worldwide, as a result of the progressive growth in diabetes prevalence. Because DFU are associated with a high risk of infection and amputation, it is crucial to choose effective and evidence-based treatments. A dressing combining technology lipidocolloid with nano-oligo saccharide factor (TLC-NOSF) has demonstrated its effectiveness in managing DFU.