The Genetic Diagnostics of Hemochromatosis: Disparities in Low- Versus High-Income Countries.

This study provides a comprehensive overview of hereditary hemochromatosis (HH), a genetic condition characterized by iron overload due to excessive iron absorption. It elucidates diverse inheritance patterns and clinical manifestations by exploring mutations in critical genes such as HFE (hemochromatosis), HJV (hemojuvelin), HAMP (hepcidin antimicrobial peptide), TfR2 (transferrin receptor 2), and FP (ferroportin). The significance of early screening, diagnosis, and personalized management strategies based on genetic classification is emphasized, particularly in terms of high-income vs. low-income countries. Addressing challenges in diagnosis, genetic testing accessibility, and healthcare disparities, the study highlights the importance of early detection, cost-effective screening strategies, and enhancing healthcare outcomes globally. Advanced genetic testing in high-income countries facilitates early diagnosis and management, reducing complications such as liver disease and cardiomyopathy. In contrast, low-income populations face several barriers, including limited access to genetic testing, high costs, and inadequate healthcare infrastructure. Cost-effective serum ferritin (SF) and transferrin saturation (TS) tests and emerging point-of-care (POC) tests offer affordable diagnostic options for low-resource settings. Additionally, the ongoing development of hepcidin measurement methods holds promise for enhancing diagnostic capabilities. Implementing these strategies can aid healthcare providers in improving global HH management and reducing the burden of iron overload complications. Furthermore, the study underscores the need for public health initiatives to raise awareness about HH, promote routine screenings, and advocate for equitable healthcare policies. Collaborative efforts between governments, healthcare organizations, and research institutions are crucial in addressing the global burden of HH. By fostering international cooperation and resource-sharing, it is possible to bridge the gap between high-income and low-income countries, ensuring all individuals have access to the necessary diagnostic and treatment options. This holistic approach can ultimately lead to better health outcomes and improved quality of life for individuals affected by HH worldwide. This comprehensive examination of HH not only illuminates the genetic and clinical aspects of the condition but also provides a roadmap for addressing the multifaceted challenges associated with its diagnosis and management.

The Role of Gut Microbiome in the Pathogenesis and the Treatment of Inflammatory Bowel Diseases.

Inflammatory bowel disease (IBD), which includes ulcerative colitis and Crohn's disease, is a chronic condition characterized by inflammation of the gastrointestinal tract. Its exact cause is unknown, but it's thought to result from a dysregulated immune response influenced by various factors, including changes in the intestinal microbiota, diet, lifestyle, and genetics. The gut microbiome, consisting of diverse microorganisms, plays a crucial role in maintaining physiological balance, with its disruption leading to inflammatory responses typical of IBD. Treatments primarily aim at symptom control, employing immunomodulators, corticosteroids, and newer approaches like probiotics, prebiotics, fecal transplants, and dietary modifications, all focusing on leveraging the microbiota's potential in disease management. These strategies aim to restore the delicate balance of the gut microbiome, typically altered in IBD, marked by a decrease in beneficial bacteria and an increase in harmful pathogens. This review underscores the importance of the gut microbiome in the pathogenesis and treatment of IBD, highlighting the shift towards personalized medicine and the necessity for further research in understanding the complex interactions between the gut microbiota, immune system, and genetics in IBD. It points to the potential of emerging treatments and the importance of a multifaceted approach in managing this complex and challenging disease.

Anesthesia training: Are we doing enough in three years? Cross-sectional study

Introduction: The mínimum number of procedures required to be performed during anesthesia training has not been officially defined in Colombia. Although a number is no guarantee of acquired competencies, it does indicate the level of opportunity offered by the different programs. This study describes the practical training afforded to residents in a graduate anesthesia program in Colombia, and compares its results with international standards. Objective: Describe exposure to procedures performed by residents enrolled in a three-year anesthesia specialization program in Colombia between 2015 and 2020, and compare with the standards proposed by ASCOFAME and ACGME. Methods: Descriptive, cross-sectional study which included residents who did their specialization in a Colombian anesthesia program between 2015 and 2020. Complexity, anesthesia techniques, invasive monitoring and airway approach were described. Finally a descriptive comparison was made with the published references of the Colombian Association of Medical Schools (ASCOFAME) and the Accreditation Council for Graduate Medical Education (ACGME). Results: The results for 10 residents were included. Each resident had a median of 978 cases (IQR 942-1120), corresponding to 25 surgical specialties, the most frequent being general surgery (18%), orthopedics (16%), pediatric surgery (19%), and obstetrics (10.8%). According to the American Society of Anesthesiology (ASA) classification, the majority of patients were ASA II (39.63%) and ASA III (28.4%). Adequate exposure was achieved in 11 of the 15 categories proposed by ACGME and in 6 of the 15 proposed by ASCOFAME. Conclusions: A detailed description of the practice component acquired by the residents during their three years of training was obtained. This baseline provides insight into the national landscape and allows to describe the relationship with international standards.

Introducción: En Colombia no se encuentra oficialmente definido el número mínimo de procedimientos que se deben realizar durante el entrenamiento en anestesiología. Aunque el número no garantiza la adquisición de competencias de la especialidad, sí es un indicador de la oportunidad ofertada por parte de los programas. Este estudio describe el entrenamiento práctico que tienen los médicos residentes en un programa de posgrado de anestesiología en Colombia y compara sus resultados con estándares internacionales. Objetivo: Describir la exposición a procedimientos realizados por los médicos residentes de un programa de especialización en anestesiología de tres años en Colombia, entre 2015 y 2020, y compararlo con los estándares propuestos por ASCOFAME y el ACGME. Métodos: Estudio descriptivo de corte transversal; se incluyeron los residentes que cursaron su programa de especialidad en un programa colombiano de anestesiología entre 2015 y 2020. Se describieron la complejidad, técnicas anestésicas, monitoría invasiva y abordaje de la vía aérea. Finalmente, se compararon los resultados de manera descriptiva con lo referenciado por la Asociación Colombiana de Facultades de Medicina y el Accreditation Council for Graduate Medical Education (ACGME). Resultados: Se incluyeron los resultados de 10 médicos residentes. El número de casos por residente tuvo una mediana de 978 casos (RIQ942-1120), correspondientes a 25 especialidades quirúrgicas; cirugía general (18 %), ortopedia (16 %), cirugía pediátrica (19 %) y obstetricia (10,8 %) fueron las más frecuentes. Según la clasificación de la Sociedad Americana de Anestesiología (ASA), la mayoría de los pacientes tenían ASA 2 (39,63 %), ASA 3 (28,4 %). Se alcanzó una exposición adecuada en 11 de las 15 categorías propuestas por el ACGME y en 6 de las 15 propuestas por la Asociación Colombiana de Facultades de Medicina. Conclusiones: Se obtuvo una descripción detallada del aspecto práctico de los residentes de anestesiología durante sus tres años de formación. Esta línea de base permite ampliar el panorama a escala nacional y describir la relación con estándares internacionales.

Effectiveness of Creatine in Metabolic Performance: A Systematic Review and Meta-Analysis.

Using the guidelines from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), this meta-analysis (MA) tried to figure out how well creatine (Cr) improves metabolic performance. We searched Google Scholar, PubMed, and the Cochrane Library to identify relevant randomized clinical trials (RCTs) exploring the various effects of Cr across different age groups compared to a placebo (PLA). We also investigated the synergistic effects of combining other supplements with Cr. In order to emphasize the different ways and sports where Cr has been used in the past years, we found from the selected articles that Cr demonstrated a more pronounced effect during aerobic or anaerobic exercise compared to PLA groups in the studies. Furthermore, in sports that demand significant cumulative energy, such as long-distance races, biking, or triathlons, athletes have observed performance enhancements with Cr supplementation. We also stipulate that Cr enhances resistance training in people over 50 years old and that adding other training supplements, such as ß-hydroxy ß-methylbutyrate (HMB), synergistically improves training outcomes when combined with Cr. The current MA was based on a thorough analysis of 10 separate studies. When these results were added together, we found that taking Cr supplements demonstrated statistically significant benefits over PLA. In conclusion, the present MA has found evidence that Cr has positive effects on metabolic outcomes for people who consume it.

Desmopressin as a Treatment in Patients With Von Willebrand Disease: A Systematic Review.

Von Willebrand disease (VWD) and hemophilia A are the most common inherited bleeding disorders. Quantitative or qualitative von Willebrand factor (VWF) anomalies cause this disorder in men and women. VWF, a plasma glycoprotein, relies on platelets for primary hemostasis. It also carries and stabilizes factor VIII in the blood. VWD has several categories. Types 1 and 3 have partial or total VWF quantitative deficiencies. However, type 2 and its subtypes have VWF quality issues. The major treatment is desmopressin (DDAVP), which replaces endogenous VWF and factor VIII (FVIII). Plasma-derived VWF/FVIII products may also be substituted exogenously. Treatment with plasma-derived or recombinant VWF concentrates without FVIII is also possible. The purpose of this retrospective, single-center research was to evaluate DDAVP's efficacy in treating VWD based on many criteria established in the current literature. We looked at the results on Google Scholar, the Cochrane Library, and PubMed/Medline. There were a total of 10 papers found, evaluated, and accepted for inclusion in this study. A comprehensive analysis of DDVAP's role in VWD was compiled from the aforementioned papers. Various aspects of DDVAP were captured by including an analysis of complementary treatments used in surgical and clinical settings. We also describe the treatment's intended impact on the different variations of the disease. Given these results, further investigation is required to determine the most effective method for managing VWD so that it may be included in standard clinical practice.

Electrochemical Deposition of Polypyrrole in the Presence of Silanes as Adhesion Promoters.

Polypyrrole adhesion to indium-tin oxide electrodes was improved by adding pre-hydrolyzed alkoxysilanes to the electrodeposition media. The pyrrole oxidation and film growth rates were studied by potentiostatic polymerization in acidic media. The morphology and thickness of the films were studied by contact profilometry and surface-scanning electron microscopy. The bulk and surface semiquantitative chemical composition was studied by Fourier-transform infrared spectroscopy and X-ray photoelectron spectroscopy. Finally, the adhesion was studied by scotch-tape adhesion test, where both alkoxysilanes showed a significant improvement in adhesion. We proposed a hypothesis for the improvement in adhesion, that involves the formation of siloxane material as well as in situ surface modification of the transparent metal oxide electrode.

The Use of Recycled PET for the Synthesis of New Mechanically Improved PVP Composite Nanofibers.

Polyethylene terephthalate (PET) waste has become a major challenge for the conservation of the environment due to difficult degradation. For this reason, it is important to develop new recycling strategies for reusing this waste. In this work, the electrospinning technique was used to synthesize composite nanofibers of polyvinylpyrrolidone (PVP), recycling PET (RPET) that was obtained from the chemical recycling of postconsumer PET with glycolysis and styrene (ST) as a crosslinking agent. The polymer solutions were analyzed by viscosity and frequency sweeping, while the composite nanofibers were characterized by scanning electron microscopy (SEM), Fourier transform infrared spectroscopy (FTIR), thermogravimetric analysis/differential scanning calorimetry (TGA/DSC), and nanoindentation to compare their properties. The PVP nanofibers presented an average diameter of 257 nm; the RPET/PVP and RPET/PVP/ST composite nanofibers had average diameters of 361 nm and 394 nm, respectively; and the modulus of elasticity and hardness of the RPET/PVP/ST composite nanofibers were 29 and 20 times larger, respectively, than those of the PVP nanofibers. With the synthesis of these composite nanofibers, a new approach to PET recycling is presented.

Infarto agudo de miocardio asociado a COVID-19. Informe de caso / Acute myocardial infarction associated with COVID-19. Case report

Se presenta el caso de un paciente masculino de 43 años, que ingresa con cuadro clínico caracterizado por dolor precordial de tipo opresivo con irradiación a cuello y mandíbula, cuya intensidad era de 8/10 atendiendo a la escala del dolor visual análoga (EVA). Además, manifestó diaforesis, disnea de pequeños esfuerzos, hiposmia y ageusia. El diagnóstico establecido fue de infección por coronavirus más infarto del miocardio. Las condiciones extraordinarias generadas por la pandemia de Covid-19 provocó que se decidiera una intervención mediante tratamiento fibrinolítico, obteniendo resultados positivos

The case of a 43-year-old male patient is presented, who is admitted with a clinical picture characterized by Chest pain of an oppressive type with irradiation to the neck and jaw, whose intensity was 8/10 according to the analogous visual pain scale (VAS). In addition, he manifes-ted diaphoresis, dyspnea on small efforts, hyposmia and ageusia. The determined diagnosis was coronavirus infection plus myocardial infarction. The extraordinary conditions generated by the Covid-19 pandemic led to an intervention by fibrinolytic treatment being decided, obtaining positive results.

Properties of Mortar with Recycled Aggregates, and Polyacrylonitrile Microfibers Synthesized by Electrospinning.

Currently it is necessary to find alternatives towards a sustainable construction, in order to optimize the management of natural resources. Thus, using recycled fine aggregate (RFA) is a viable recycling option for the production of new cementitious materials. In addition, the use of polymeric microfibers would cause an increase in the properties of these materials. In this work, mortars were studied with 25% of RFA and an addition of polyacrylonitrile PAN microfibers of 0.05% in cement weight. The microfibers were obtained by the electrospinning method, which had an average diameter of 1.024 µm and were separated by means of a homogenizer to be added to the mortar. Cementing materials under study were evaluated for compressive strength, flexural strength, total porosity, effective porosity and capillary absorption, resistance to water penetration, sorptivity and carbonation. The results showed that using 25% of RFA causes decreases mechanical properties and durability, but adding PAN microfibers in 0.05% caused an increase of 2.9% and 30.8% of compressive strength and flexural strength respectively (with respect to the reference sample); a decrease in total porosity of 5.8% and effective porosity of 7.4%; and significant decreases in capillary absorption (approximately 23.3%), resistance to water penetration (25%) and carbonation (14.3% after 28 days of exposure). The results showed that the use of PAN microfibers in recycled mortars allowed it to increase the mechanical properties (because they increase the tensile strength), helped to fill pores or cavities and this causes them to be mortars with greater durability. Therefore, the use of PAN microfibers as a reinforcement in recycled cementitious materials would be a viable option to increase their applications.

Encefalitis rábica humana secundaria a mordedura por gato infectado por un virus rábico de origen silvestre / Encephalitis Due to Rabies Secondary to the Bite of a Cat Infected With a Rabies Virus of Silvester Origen

La rabia es una enfermedad viral zoonótica, producida por un virus del genero Lyssavirus de la Familia Rhabdoviridae, cuya principal fuente de transmisión es la mordedura de animales a humanos. Es una enfermedad fatal y se han descrito casos por ciclos urbanos y rurales. El caso que reportamos es el de una joven de 22 años, quien ingresa por un cuadro de dolor de características neuropáticas en el miembro superior derecho, con antecedente de mordedura por un gato de varios meses atrás, hospitalizada por el servicio de Neurología por sospecha de lesión de plejo braquial, con resonancia de columna cervical y líquido cefalorraquídeo (LCR) normales, quien posteriormente presenta deterioro clínico tórpido a un proceso encefalopático que en pocos días la llevó a la muerte. Se confirmó que la paciente presentó una encefalitis por un virus de rabia. Expondremos cómo fue el manejo de la paciente y todos los nexos epidemiológicos.

Rabies is a zoonotic viral disease, caused by a virus of the genus Lyssavirus of the Rhabdoviridae family. Its main source is transmission from animals to humans bite. The disease is fatal and has been reported to occur in rural and urban cycles. This reported case is a 22-year old, who was admitted with symptoms of neuropathic pain in the right arm, with a history of being bitten by a cat a few months earlier. The patient was hospitalized in the Neurology Department for suspected brachial plexopathy, and normal spinal MRI and cerebrospinal fluid (CSF) were found. The patient subsequently presented encephalopathic decline that resulted in death within a few days. It was confirmed that the patient had encephalitis due to the rabies virus. We present the management of the patient and all epidemiological links.

Controlled synthesis and transfer of large-area WS2 sheets: from single layer to few layers.

The isolation of few-layered transition metal dichalcogenides has mainly been performed by mechanical and chemical exfoliation with very low yields. In this account, a controlled thermal reduction-sulfurization method is used to synthesize large-area (~1 cm(2)) WS2 sheets with thicknesses ranging from monolayers to a few layers. During synthesis, WOx thin films are first deposited on Si/SiO2 substrates, which are then sulfurized (under vacuum) at high temperatures (750-950 °C). An efficient route to transfer the synthesized WS2 films onto different substrates such as quartz and transmission electron microscopy (TEM) grids has been satisfactorily developed using concentrated HF. Samples with different thicknesses have been analyzed by Raman spectroscopy and TEM, and their photoluminescence properties have been evaluated. We demonstrated the presence of single-, bi-, and few-layered WS2 on as-grown samples. It is well known that the electronic structure of these materials is very sensitive to the number of layers, ranging from indirect band gap semiconductor in the bulk phase to direct band gap semiconductor in monolayers. This method has also proved successful in the synthesis of heterogeneous systems of MoS2 and WS2 layers, thus shedding light on the controlled production of heterolayered devices from transition metal chalcogenides.

Neoadjuvant cisplatin and etoposide, with or without tamoxifen, prior to radiotherapy in high-grade gliomas: a single-center experience.

Neoadjuvant chemotherapy (CT), prior to radical radiotherapy (RT), in the treatment of high-grade gliomas may offer several advantages over standard adjuvant CT. The addition of tamoxifen, which can circumvent P-glycoprotein (P-gp)-mediated chemo-resistance, also merits attention. We have evaluated the neoadjuvant regimen of cisplatin and etoposide after surgery of grade III-IV gliomas and prior to radical RT, with regard to response rates (RRs), overall survival (OS) and time to progression (TTP). The synergistic activity between etoposide and tamoxifen was also studied. Forty-four patients were included. CT regime: cisplatin 100 mg/m2 on day +1 and etoposide 100 mg/m2 on days +1 to +3 every 3 weeks for 3 cycles. The initial 24 were also treated with high-dose tamoxifen, 275 mg/m2 on days -3 to +3. An immunohistochemical analysis of P-gp, p53, vascular endothelial growth factor, Ki67 and bcl-2 was also performed. Median follow-up was 11.57 months. In the 16 patients with measurable disease after surgery, a RR of 12.5% was seen, with 37.5% of disease stabilizations and 31.25% of progressions. The median OS and TTP were 11.3 and 5.7 months. Excluding the three deaths possibly related to tamoxifen, grade 3-4 was low, mainly emesis. Favorable prognostic factors were age less than 60 years, extent of surgery, absence of measurable disease, and the absence of radiological necrosis and ring enhancement. Only high p53 expression was associated with better OS. We conclude that neoadjuvant cisplatin and etoposide is a feasible regime, although any real advantage over standard adjuvant CT is dubious. Short-course high-dose tamoxifen should not be used alongside primary CT.