Family and genetic counseling in Leber hereditary optic neuropathy.

Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change significantly impacts daily life, necessitating emotional support, counseling and low-vision rehabilitative services to help affected individuals cope with the shock and adapt to their residual vision. The psychosocial burden of dealing with vision loss extends beyond the individuals directly affected by LHON, affecting matrilineal relatives who face the dual challenges of grieving for their loved one's vision loss and managing their own uncertainty about potential vision loss and its familial implications.

Nutritional status and incidence of hepatocellular carcinoma in patients with compensated liver cirrhosis.

Background: Malnutrition in patients with liver cirrhosis (LC) and/or hepatocellular carcinoma (HCC) has been associated with adverse outcomes. However, there is little information on the incidence of HCC during the compensated phase of LC in relation to the nutritional status.

Aim: To evaluate the association between the incidence of HCC in compensated LC and their nutritional status.

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a -Associated Neurodevelopmental Syndrome.

Variants in membrane trafficking proteins are known to cause rare disorders with severe symptoms. The highly conserved transport protein particle (TRAPP) complexes are key membrane trafficking regulators that are also involved in autophagy. Pathogenic genetic variants in specific TRAPP subunits are linked to neurological disorders, muscular dystrophies, and skeletal dysplasias.

Achalasia: diagnostic delay and manometric characteristics with high-resolution solid-state and perfusion equipment.

Introduction: the early diagnosis of achalasia requires a high degree of clinical suspicion, and delays in diagnosis are frequent. High-resolution esophageal manometry (HRM) is the gold standard for its diagnostic confirmation. There are two HRM systems, perfusion and solid-state, which allow its classification into three subtypes: I, or classical; II, or with pan-esophageal pressurization; and III, or spastic.

High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome.

Background: Previous investigations pointed out a role for antigen stimulation in Sezary syndrome (SS). High-throughput sequencing of the T cell receptor (TR) offers several applications beyond diagnostic purposes, including the study of T cell pathogenesis.

Methods: We performed high-throughput RNA sequencing of the TR alpha (TRA) and beta (TRB) genes focusing on the complementarity-determining region 3 (CDR3) in 11 SS and one erythrodermic mycosis fungoides (MF) patients.

Incidence of traffic light labelling on noncommunicable diseases: a roadmap for achieving sustainable development.

The production and diversity of the supply of food products has grown exponentially in recent decades, along with the increase in cardiovascular diseases associated with poor diet. Among the factors, one of the most important is the lack of information for the consumer when purchasing. The present work evaluates the impact of implementing the traffic light labelling of foods in reducing deaths due to Noncommunicable Diseases (NCD).

Analysis of the Factors Intervening in the Prehospital Time in a Stroke Code.

Introduction: Strokes continue to be considered public health problems due to the great social and health impact they entail. They are the second cause of death in the world, with a high incidence and prevalence. They are time-dependent diseases, and more than 80% of cases could be avoidable with greater management of risk factors.

Use of Ozone Therapy in Diabetic Foot Ulcers.

Introduction: ozone therapy is a therapy composed of ozone. This gas is in the atmosphere with various general effects: direct disinfectant and trophic effects and a systemic antibacterial and antiviral effect. This gas also improves blood circulation, makes glucose metabolism more effective, improves erythrocyte metabolism, and improves fatty acid metabolism.

Academic performance and social networks of adolescents in a caribbean city in Colombia.

Background: Social factors and networks of friends can influence an adolescent's behavior, including academic performance (AP) in school. This study aimed to analyze the relationship between AP and adolescents' social networks in a Caribbean city in Colombia.

Methods: A cross-sectional study was carried out with 806 schoolchildren from 12 to 17 years old of both sexes (52.

Improving COVID-19 vaccine uptake: a message co-design process for a national mHealth intervention in Colombia.

Background: COVID-19 vaccination is a global priority. Latin American countries have some of the highest COVID-19 death rates worldwide with vaccination hampered by a variety of reasons, including mis- and disinformation, vaccine hesitancy, and vaccine supply constraints. Addressing vaccine hesitancy through effective messages has been found to help increase vaccine uptake.

Synthesis of Quinazolin-2,4,6-triamine Derivatives as Non-purine Xanthine Oxidase Inhibitors and Exploration of Their Toxicological Potential.

In this work, a new set of quinazolin-2,4,6-triamine derivatives were synthesized to explore their potential biological activity as xanthine oxidase (XO) inhibitors, superoxide scavengers and screening of their toxicological profile. Among all the synthesized compounds, B1 exhibited better inhibitory activity against bovine xanthine oxidase (bXO) than allopurinol (IC =1.56 μM and IC =6.

Late poor outcomes of infections in oncological patients: A multicentre cohort study.

Background: Cancer has been associated with an increased risk of in-hospital mortality in CDI patients. However, data on delayed mortality in cancer patients with CDI are scarce.

Aim/objective: The aim of the present study was to compare outcomes between oncological patients and the general population with infection (CDI) after 90 days of follow-up.

Non-linear effect of manufacturing on an environmental pollution index in Latin America.

Manufacturing is one of the primary sources of environmental pollution due to the emission of polluting gases and waste generation. This research aims to examine the manufacturing industry's effect on an environmental pollution index in nineteen Latin American countries using non-linear methods. The youth population, globalization, property rights, civil liberties, the unemployment gap, and government stability moderate the relationship between the two variables.

Supervised Deep Learning Techniques for Image Description: A Systematic Review.

Automatic image description, also known as image captioning, aims to describe the elements included in an image and their relationships. This task involves two research fields: computer vision and natural language processing; thus, it has received much attention in computer science. In this review paper, we follow the Kitchenham review methodology to present the most relevant approaches to image description methodologies based on deep learning.

Risk factors associated with inappropriate empirical antimicrobial treatment in bloodstream infections. A cohort study.

Bloodstream infections (BSI) are a major cause of mortality all over the world. Inappropriate empirical antimicrobial treatment (i-EAT) impact on mortality has been largely reported. However, information on related factors for the election of i-EAT in the treatment of BSI in adults is lacking.

The Effectiveness of Negative Pressure Therapy: Nursing Approach.

Introduction: Complex wounds require advanced techniques for their management and care. Wound care costs are high, so healthcare professionals need to be aware of available therapies. Negative pressure therapy is a technology for which more and more data on its effectiveness in complex wounds are being collected.

Tools for studying human microglia: In vitro and in vivo strategies.

Microglia may only represent 10% of central nervous system (CNS) cells but they perform critical roles in development, homeostasis and neurological disease. Microglia are also environmentally regulated, quickly losing their transcriptomic and epigenetic signature after leaving the CNS. This facet of microglia biology is both fascinating and technically challenging influencing the study of the genetics and function of human microglia in a manner that recapitulates the CNS environment.

infection recurrence in the VINCat hospitals: a prospective observational cohort study.

The 2016 cumulative incidence of infection (CDI) in Spain was reported by the European Center for Disease Control to be above the mean of other European countries. The aim of this multicenter prospective observational cohort study was to examine the risk factors that determine 90-day CDI recurrence in Catalonia, Spain. The study included 558 consecutive adults admitted to hospital who had a symptomatic, first positive CDI diagnosis.

Patient-reported outcomes measures (PROMs) and patient-reported experience measures (PREMs) of COVID-19 telerehabilitation: Prospective pilot program.

Telemedicine is proving to be a useful tool in the telemonitoring of respiratory patients and telerehabilitation programs. The use of telemedicine has been proposed by the main medical societies because of the limited resources and the healthcare workers infection risk in the Coronavirus Disease 2019 (COVID-19) pandemic. The aim of this pilot program is to evaluate the feasibility of COVID-19 telerehabilitation program from the hospital to the home with clinical, functional and patient satisfaction outcomes.

Cutaneous Manifestations of COVID-19 in the Lower Limbs: A Narrative Review.

In 2020, the World Health Organization declared the COVID-19 pandemic. This infectious pathology can be associated with different manifestations in different body systems, among which are dermatological lesions. The purpose of this work is to determine the most frequent dermatological signs, in the lower limbs, produced by SARS-CoV-2.

Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration.

There are currently no treatments for geographic atrophy, the advanced form of age-related macular degeneration. Hence, innovative studies are needed to model this condition and prevent or delay its progression. Induced pluripotent stem cells generated from patients with geographic atrophy and healthy individuals were differentiated to retinal pigment epithelium.

Small static radiosurgery field dosimetry with small volume ionization chambers.

Purpose: To evaluate the response of the four smallest active volume thimble type ionization chambers commercially available (IBA-dosimetry RAZOR Nano Chamber, Standard Imaging Exradin A16, IBA-dosimetry CC01 and PTW T31022) when measuring SRS cone collimated Flattening Filter Free (FFF) fields.

Methods: We employed Monte Carlo simulation for calculating correction factors as defined in IAEA TRS-483. Monte Carlo simulation beam model and ion chamber geometry definitions were supported by an extensive set of measurements.