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.

Dissecting cell heterogeneities in bacterial biofilms and their implications for antibiotic tolerance.

Bacterial biofilms consist of large, self-formed aggregates where resident bacteria can exhibit very different physiological states and phenotypes. This heterogeneity of cell types is crucial for many structural and functional emergent properties of biofilms. Consequently, it becomes essential to understand what drives cells to differentiate and how they achieve it within the three-dimensional landscape of the biofilms.

Model-based deep learning framework for accelerated optical projection tomography.

In this work, we propose a model-based deep learning reconstruction algorithm for optical projection tomography (ToMoDL), to greatly reduce acquisition and reconstruction times. The proposed method iterates over a data consistency step and an image domain artefact removal step achieved by a convolutional neural network. A preprocessing stage is also included to avoid potential misalignments between the sample center of rotation and the detector.

The First Population-Level Description of Women Diagnosed With Invasive Breast Cancer in Costa Rica From 2008 to 2012: A Cross-Sectional Study.

Introduction: Breast cancer is the leading cause of cancer-related deaths among women worldwide. In Costa Rica, it ranks first in incidence and fourth in terms of mortality. However, there is a lack of comprehensive information on treatment patterns and outcomes for breast cancer patients in Costa Rica.

Novel role for peptidoglycan carboxypeptidases in maintaining the balance between bacterial cell wall synthesis and degradation.

Peptidoglycan (PG) is the main component of the bacterial cell wall; it maintains cell shape while protecting the cell from internal osmotic pressure and external environmental challenges. PG synthesis is essential for bacterial growth and survival, and a series of PG modifications are required to allow expansion of the sacculus. Endopeptidases (EPs), for example, cleave the crosslinks between adjacent PG strands to allow the incorporation of newly synthesized PG.

Effect of Essential Oils from Lemongrass and Tahiti Lime Residues on the Physicochemical Properties of Chitosan-Based Biodegradable Films.

This work aimed to evaluate the impact of adding two essential oils (EO) from lemongrass (LEO) and Tahiti lime (TLEO) on the physical, mechanical, and thermal properties of chitosan-based biodegradable films. Six film formulations were prepared: two controls with chitosan concentrations of 1% and 1.5% /, two formulations combining the two chitosan concentrations with 1% LEO /, and two formulations combining the two chitosan concentrations with 1% TLEO /.

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.

Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular diagnoses missed by different targeted gene panels using data from a cohort of patients with rare genetic diseases diagnosed with exome sequencing (ES).

Hypercoagulability Due to COVID-19 Leading to Impending Phlegmasia Cerulea Dolens and Sub-Massive Bilateral Pulmonary Embolism.

This is a case report of a 47-year-old male with a history of hypertension and pre-diabetes who presented to the emergency department with dyspnea, progressive unilateral leg swelling and pain. The patient tested positive for coronavirus disease 2019 (COVID-19) infection about a week earlier. The patient was found to have an extensive clot burden of his lower extremity veins, both deep and superficial, which extended to his inferior vena cava (IVC).

Rituximab for Inflammatory Myopathies in a Colombian Cohort.

Introduction/objectives: Rituximab (RTX) is a treatment for refractory inflammatory myopathies, such as dermatomyositis (DM) and polymyositis (PM). This study describes the characteristics of patients receiving RTX for myositis in our institution to evaluate its efficacy.

Method: We collected demographic data from all patients diagnosed with DM or PM who received RTX between 2011 and 2018.

Therapeutic Plasma Exchange as Management of Complicated Systemic Lupus Erythematosus and Other Autoimmune Diseases.

Introduction: Autoimmune diseases include a diverse and complex group of pathologies with a broad clinical spectrum due to the production of autoantibodies, which generates multisystemic compromise. Therapeutic plasma exchange (TPE) is a good additive treatment for immunosuppression due to its action over the autoantibodies.

Objectives: To describe the main clinical characteristics and outcomes of patients with systemic lupus erythematosus and other systemic autoimmune diseases managed with TPE.

Analysis of the denitrification pathway and greenhouse gases emissions in Bradyrhizobium sp. strains used as biofertilizers in South America.

Aims: Greenhouse gases are considered as potential atmospheric pollutants, with agriculture being one of the main emission sources. The practice of inoculating soybean seeds with Bradyrhizobium sp. might contribute to nitrous oxide (N O) emissions.

Impact of a child stimulation intervention on early child development in rural Peru: a cluster randomised trial using a reciprocal control design.

Objective: Stimulation in early childhood can alleviate adverse effects of poverty. In a community-randomised trial, we implemented 2 home-based interventions, each serving as an attention control for the other. One group received an integrated household intervention package (IHIP), whereas the other group received an early child development (ECD) intervention.

Impact of Lipid and Protein Co-oxidation on Digestibility of Dairy Proteins in Oil-in-Water (O/W) Emulsions.

Enrichment of polyunsaturated fatty acids (PUFAs) is a growing trend in the food industry. However, PUFAs are known to be susceptible to lipid oxidation. It has been shown that oxidizing lipids react with proteins present in the food and that as a result polymeric protein complexes are produced.

Genome Sequence of Bradyrhizobium japonicum E109, One of the Most Agronomically Used Nitrogen-Fixing Rhizobacteria in Argentina.

We present here the complete genome sequence of Bradyrhizobium japonicum strain E109, one of the most used rhizobacteria for soybean inoculation in Argentina since the 1970s. The genome consists of a 9.22-Mbp single chromosome and contains several genes related to nitrogen fixation, phytohormone biosynthesis, and a rhizospheric lifestyle.

Identification of modified lysozyme peptides upon photo-oxidation by LC-TOF-MS.

Protein oxidation can have major implications on the quality and safety of foods, but the majority of methods to evaluate oxidative damage lack specificity. Therefore, this study aimed to identify specific markers for protein oxidation. A well-characterized protein, lysozyme, was modified by photo-oxidation and subsequently hydrolyzed prior to peptide analysis by LC-TOF-MS.

[Catheter associated bacteremia caused by Ochrobactrum anthropi in a patient on hemodialysis: report of one case].

Ochrobactrum anthropi is a rare pathogen in humans that is usually related to infections in immunocompromised patients or people with indwelling medical devices. There are very few reported cases of O. anthropi bacteremia in patients on hemodialysis.

[Histology and morphometry of the in the freshwater Paracheirodon axelrodi (Characiformes: Characidae)].

The visual system of Teleost fishes has a wide range of adaptations. The eye has suffered modifications, mainly towards better sensitivity and visual resolution according to specific environmental conditions. In that way, this organ is so important for survival.

HPLC determination of Vitamin D(3) and its metabolite in human plasma with on-line sample cleanup.

A HPLC method with automated column switching and UV-diode array detection is described for the simultaneous determination of Vitamin D(3) and 25-hydroxyvitamin D(3) (25-OH-D(3)) in a sample of human plasma. The system uses a BioTrap precolumn for the on-line sample cleanup. A sample of 1ml of human plasma was treated with 2ml of a mixture of ethanol-acetonitrile (2:1 (v/v)).

Column-switching high-performance liquid chromatographic analysis of carbamazepine and its principal metabolite in human plasma with direct sample injection using an alkyl-diol silica (ADS) precolumn.

In this paper, the on-line coupling of solid-phase extraction, based on a restricted-access support with high-performance reverse phase chromatography for the analysis of carbamazepine (CBZ) and carbamazepine-10,11-epoxide (CBZ-E) in human plasma samples is described. A precolumn packed with 25 mum C(18) alkyl-diol support is used for direct plasma injection. Using column-switching techniques, the analytes were enriched on the precolumn by a 5 mM phosphate buffer (pH 7) with 2% of methanol solution at a flow-rate of 0.

Multi-syringe chromatography (MSC) system for the on-line solid-phase extraction and determination of hydrochlorothiazide and losartan potassium in superficial water, groundwater and wastewater outlet samples.

In this paper, a combination of multi-syringe chromatography analysis technique with extraction disks sorbents for the pre-concentration and determination of hydrochlorothiazide and losartan potassium in superficial water, groundwater and wastewater outlet samples has been developed. The system developed was proved for the determination of hydrochlorothiazide and losartan potassium in spiked water samples with recoveries ranging from 95 to 118%. The method involves the on-line enrichment of the targeted analytes from spiked water samples onto a Cation-SR sorbent material.

Simultaneous determination of hydrochlorothiazide and losartan potassium in tablets by high-performance low-pressure chromatography using a multi-syringe burette coupled to a monolithic column.

This contribution describes use of a separation method based on on-line coupling of a multisyringe flow system with a chromatographic monolithic column for simultaneous determination of hydrochlorothiazide and losartan potassium in tablets. The system comprised a multisyringe module, three low-pressure solenoid valves, a monolithic C(18) column (25 mm x 4.6 mm i.

Determination of cocaine and benzoylecgonine by direct injection of human urine into a column-switching liquid chromatography system with diode-array detection.

A method for the determination of cocaine (COC) and benzoylecgonine (BZE) in human urine using a column-switching liquid chromatography system is reported. A homemade precolumn (20 mm x 4.6 mm i.

[Myoclonic epilepsies in pediatrics].

Introduction: In our environment the frequency of epilepsy is 1.9% and in the central anti-epilepsy league (LICCE) of Santafé de Bogotá, Colombia, some 1,500 patients are attended each month (approximately 75 daily), of which an average of 7.2 consulted for the first time.