Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by pathogenic molecular variants in the SERPING1 gene, which codes for C1-Inhibitor protein. This study performed the phenotypic and molecular characterization of a HAE1 cluster that includes the largest number of affected worldwide.

Is Tumor Growth Influenced by the Bone Remodeling Process?

In this study, we develop a comprehensive model to investigate the intricate relationship between the bone remodeling process, tumor growth, and bone diseases such as multiple myeloma. By analyzing different scenarios within the Basic Multicellular Unit, we uncover the dynamic interplay between remodeling and tumor progression. The model developed developed in the paper are based on the well accepted Komarova's and Ayati's models for the bone remodeling process, then these models were modified to include the effects of the tumor growth.

Impact of social determinants of health on the outcomes of Latin American children with Multisystem Inflammatory Syndrome (MIS-C).

Importance: There is growing understanding that Social Determinants of Health (SDH) impact on the outcomes of different pediatric conditions. We aimed to determine whether SDH affect the severity of MIS-C.

Design: Retrospective cohort study, 2021-2023.

Influence of Composite Edible Coating of Pectin, Glycerol, and Oregano Essential Oil on Postharvest Deterioration of Mango Fruit.

To control mango postharvest deterioration, an edible coating based on pectin, glycerol, and oregano essential oil (OEO) was developed using a three-step process involving optimization, validation, and comparison with a commercial fungicide. An extreme vertices mixture design approach was initially used to optimize the pectin, glycerol, and OEO concentrations in the coating formulation. We evaluated the impact of the coating components on the respiration rate, quality parameters, and anthracnose disease of mangoes.

Catalyzing sustainable development: insights from the international workshop on STI policies and innovation systems in Central America.

This article examines the landscape of Science, Technology, and Innovation policies in Central America, focusing on Nicaragua, Guatemala, Honduras, and El Salvador. These nations face significant challenges in leveraging STI for sustainable development, including financial constraints and limited resources. Additionally, Central America struggles with systemic issues such as corruption, violence, and high levels of emigration, further complicating efforts to advance STI.

Perioperative morbidity after primary hiatal hernia repair increases as hernia size increases.

Background: Minimally invasive hiatal hernia (HH) repair is the gold standard for correcting mechanical defects of the crural diaphragm due to its safety and favorable clinical outcomes (i.e., relief of patient symptoms).

The potential of Generative Pre-trained Transformer 4 (GPT-4) to analyse medical notes in three different languages: a retrospective model-evaluation study.

Background: Patient notes contain substantial information but are difficult for computers to analyse due to their unstructured format. Large-language models (LLMs), such as Generative Pre-trained Transformer 4 (GPT-4), have changed our ability to process text, but we do not know how effectively they handle medical notes. We aimed to assess the ability of GPT-4 to answer predefined questions after reading medical notes in three different languages.

Identification of putative volatile biomarkers of canine leishmaniasis in dog's breath and hair employing a novel algorithm for automated chromatographic peak detection and matching.

The analysis of the volatile compounds released by biological samples represents a promising approach for the non-invasive diagnosis of a disease. The present study, focused on a population of dogs infected with canine leishmaniasis, aimed to decipher the volatolomic profile associated with this disease in dogs, which represent the main animal reservoir for Leishmania pathogen transmission to humans. The volatiles emitted by the breath and hair of dogs were analysed employing the gas chromatography-mass spectrometry (GC-MS) technique.

The GrassSyn dataset: Soil organic carbon stocks in Brazilian grassy ecosystems.

Although ecosystem management and restoration are known to enhance carbon storage, limited knowledge of ecosystem-specific soil organic carbon (SOC) stocks and processes hinders the development of climate-ready, biodiversity-focused policies. Baseline SOC stocks data for specific ecosystems is essential. This paper aims to: (i) examine SOC stock variability across major grassy ecosystems in Brazil and (ii) discuss data limitations and applications.

Antibiotic-resistant bacteria aerosol in a Caribbean coastal city: Pre- and post- COVID-19 lockdown.

This study assessed the prevalence and spatial distribution of viable ultrafine and fine antibiotic-resistant bacteria aerosols (ARB) in the Metropolitan Area of Barranquilla, Colombia, pre- and post-lockdown (September 2019 to December 2020). Samples were systematically collected from urban, suburban, and rural sites using a six-stage viable cascade impactor. We employed logistic regression and Bayesian Neural Network Classifiers to analyze meteorological variables' influence on antibiotic resistance persistence.

Effects of climate change on the occurrence and distribution of Western equine encephalitis virus in South America.

Objectives: The Western equine encephalitis virus (WEEV) is a globally relevant vector-borne pathogen that causes encephalitis. The role of environmental variables in the epidemiology of WEEV has become greater in the context of climate change. In December 2023, a significant resurgence of WEEV began in South America, with major ongoing outbreaks in Argentina and Uruguay.

Evolution of NAC transcription factors from early land plants to domesticated crops.

NAC [NO APICAL MERISTEM (NAM), ARABIDOPSIS TRANSCRIPTION ACTIVATOR FACTOR 1/2 (ATAF1/2), and CUP-SHAPED COTYLEDON (CUC2)] transcription factors are key regulators of plant growth, development, and stress responses but were also crucial players during land plant adaptation and crop domestication. Using representative members of green algae, bryophytes, lycophytes, gymnosperms, and angiosperms, we expanded the evolutionary history of NAC transcription factors to unveil the relationships among members of this gene family. We found a massive increase in the number of NAC transcription factors from green algae to lycophytes and an even larger increase in flowering plants.

Proactive esophageal cooling during radiofrequency cardiac ablation: data update including applications in very high-power short duration ablation.

Introduction: Proactive esophageal cooling reduces injury during radiofrequency (RF) ablation of the left atrium (LA) for the treatment of atrial fibrillation (AF). New catheters are capable of higher wattage settings up to 90 W (very high-power short duration, vHPSD) for 4s. Varying power and duration however does not eliminate the risk of thermal injury.

A decade of iron overload disorders and hemochromatosis: clinical and genetic findings from a specialized center in Colombia.

Background: Iron overload disorders, including hereditary hemochromatosis (HH), are characterized by excessive iron accumulation, which can cause severe organ damage. HH is most associated with the C282Y mutation in Caucasian populations, but its prevalence and genetic profiles in Latin American populations remain underexplored.

Objectives: To describe the clinical manifestations, genetic profiles, and biochemical characteristics of patients with suspected iron overload disorders in a specialized hematology center in Cali, Colombia.

Novel enantiopure δ-thiolactones: synthesis, structural characterization, and reactivity studies.

A new series of chiral δ-thiolactone derivatives have been prepared. These compounds exemplify the acetalic N-C-S reversibility of fused thiazolidines toward the thermodynamic product. The stereochemistry of the synthesized compounds was elucidated using X-ray crystallography, NOESY spectroscopy, and DFT calculations.

Equitable and effective clinical guidance development and dissemination: trauma aims to lead the way.

Thirty-four per cent of deaths among Americans aged 1-46 are due to injury, and many of these deaths could be prevented if all hospitals performed as well as the highest-performing hospitals. The Institute of Medicine and the National Academies of Science, Engineering and Medicine have called for learning health systems, with emphasis on clinical practice guidelines (CPGs) as a means of limiting preventable deaths. Reduction in mortality has been demonstrated when evidence-based trauma CPGs are adhered to; however, guidelines are variably updated, redundant, absent, inaccessible, or perceived as irrelevant.

Regenerative characteristics of the immortal jellyfish, Turritopsis dohrnii, and their potential implications for human aging.

The jellyfish Turritopsis dohrnii (T. Nutricala) is a cnidarian of the Oceaniidae family that lives in the Mediterranean Sea. It is known as the immortal jellyfish since, through a process of cell development called transdifferentiation, it manages to return to a polyp state.

Epidemiological, clinical characterization and treatment patterns of migraine patients in a Colombian cohort from 2018 to 2022.

Background: To describe the epidemiology and clinical characteristics of migraine and the status of treatment in Colombia. Additionally, the use of health resources by patients was measured.

Methods: This was a non-interventional, retrospective, descriptive study conducted in one Colombian Health Management Organization (HMO) from 2018 to 2022 with a follow-up period of 5 years.

Seroprevalence of Brucellosis in Livestock and Farmers' Choice of Milk Marketing Channels in Rwamagana District, Rwanda.

Brucellosis remains an endemic disease in livestock populations in Rwanda, but the prevalence of the disease varies by geographic region. The common use of informal milk marketing channels represents a health hazard to humans when milk from Brucella-infected cows from one or more households is mixed with milk from other households for human consumption. In Rwanda, knowledge about the burden of brucellosis in livestock and factors associated with farmers' choice of milk marketing channels is very limited.

Innovative use of the new pulsed-thulium: YAG laser for ureteroscopic lithotripsy: can the "kidney stone calculator" predict lithotripsy duration?

To assess the accuracy of Kidney Stone Calculator(KSC), a software designed for surgical planning, in predicting the duration of lithotripsy during flexible ureteroscopy(FURS) when using the novel pulsed-Thulium: YAG(p-Tm: YAG) laser. From February to August 2023, a single-center prospective study was conducted, including patients with kidney or ureteral stones through non-contrast computed tomography(NCCT), who underwent FURS with p-Tm: YAG laser lithotripsy. KSC used three-dimensional segmentation of the stones from NCCT images, along with an interactive user interface for laser settings, to estimate the stone volume(SV) and the lithotripsy duration(LD).

Building global collaborative research networks in paediatric critical care: a roadmap.

Paediatric critical care units are designed for children at a vulnerable stage of development, yet the evidence base for practice and policy in paediatric critical care remains scarce. In this Health Policy, we present a roadmap providing strategic guidance for international paediatric critical care trials. We convened a multidisciplinary group of 32 paediatric critical care experts from six continents representing paediatric critical care research networks and groups.

Retinal structure and its relationship with premorbid, clinical, and cognitive variables in young Spanish patients with early course schizophrenia spectrum disorders.

Emerging evidence suggests that retinal structural alterations are present in schizophrenia spectrum disorders (SSD), potentially reflecting broader neurodevelopmental and neurodegenerative processes. This cross-sectional study investigates retinal thickness and its clinical correlations in a sample of early-course SSD patients compared to healthy controls (HCs). One hundred-two eyes from 26 SSD cases and 25 age- and sex-matched HCs were included.

Baseline microbiota of blueberries, soil, and irrigation water from blueberry farms located in three geographical regions.

Bacterial microbiota was determined in fruit, soil, and irrigation water from blueberry ( spp.) farms located in Cundinamarca, Colombia; Mississippi, United States; and Jalisco, Mexico. Bacterial communities were studied using 16S ribosomal ribonucleic acid (rRNA) gene amplification by targeting the V3-V4 hypervariable region.

Cost evaluation of acute ischemic stroke in Latin America: a multicentric study.

Background: Current literature highlights a gap in precise stroke cost data for Latin America. This study measures the real costs associated with acute ischemic stroke care in Latin America using Time-Driven Activity-Based Costing (TDABC). The findings aim to lay a solid foundation for adopting value-based healthcare (VBHC) strategies in the region.