15 research outputs found

    New correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I

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    Background: Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher’s disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity. Methods: This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher’s disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and chitotriosidase (ChT)] and severity scoring systems results [“Gaucher Disease Severity Score Index Type I" (GauSSI-I) and “Gaucher disease severity scoring system” (GD-DS3)]. Results: Nine subjects (18 eyes) were cases (female: 55.5%, mean age 45 years; male: 44.5%, mean age 36 years) and 40 subjects (80 eyes) were controls (female: 49%, mean age 50 years; male: 51%, mean age 55 years). There were no statistically significant differences when comparing ocular parameters (visual acuity; axial length, refractive errors, corneal parameters, lens, retinal and choroidal thickness) between case and control subjects (p>0.05). A statistically significant moderate correlation was observed between lower retinal thickness and choroidal quadrants thickness and greater disease severity scores. A lower central retinal thickness also correlates with higher biological plasmatic levels, and has a statistically significant association with the most affected patient with genotype N370S/Del 55pb. Conversely, higher pachymetry involves a more severe plasmatic concentration of biomarkers. Conclusions: Our results suggest that pachymetry, and retinal and choroidal thickness, are associated with burden biomarkers and disease severity index scores in Spanish patients with Gaucher’s disease Type I

    Impact Of Antibiotic Resistance in Latin America in The Last Decade

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    Los antibióticos son medicamentos usados para tratar infecciones bacterianas, pero su uso indiscriminado, automedicación entre otras condiciones pueden llevar a un paciente a la resistencia a los antibióticos. Diferentes mecanismos pueden mediar la aparición de la resistencia a los antibióticos como por ejemplo su resistencia intrínseca. Por ello, hemos realizado una búsqueda bibliográfica de artículos en inglés y español en bases de datos nacionales e internacionales que nos dieron como resultados diferentes reportes de casos en los que se evidencia la resistencia a los antibióticos y el impacto en Latinoamérica en los últimos años. Por lo que nos lleva a concluir que la resistencia a los antibióticos es una de las mayores preocupaciones hoy en día debido a la disminución de la efectividad de un tratamiento.Antibiotics are medications used to treat bacterial infections, but their indiscriminate use, self-medication among other conditions can lead a patient to antibiotic resistance. Different mechanisms can mediate the emergence of resistance to antibiotics, such as intrinsic resistance. For this reason, we have carried out a bibliographic search of articles in English and Spanish in national and international databases that gave us different case reports in which resistance to antibiotics and the impact in Latin America in recent years is evident. Therefore, it leads us to conclude that antibiotic resistance is one of the biggest concerns today due to the decrease in the effectiveness of a treatment

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

    Hepatotoxicity Associated with Use of the Weight Loss Supplement Garcinia cambogia: A Case Report and Review of the Literature

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    The use of herbal and dietary supplements for weight loss is becoming increasingly common as obesity is becoming major health problem in the United States. Despite the popularity of these natural supplements, there are no guidelines for their therapeutic doses and their safety is always a concern. Garcinia cambogia extract with its active ingredient “hydroxycitric acid” is a component of many weight loss regimens. It suppresses fatty acid biosynthesis and decreases appetite. However, its prolonged use in weight maintenance is unknown. Here we describe a case of acute hepatitis after the use of Garcinia cambogia for weight loss

    Artificial intelligence compared with human-derived patient educational materials on cirrhosis

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    Background:. The study compared the readability, grade level, understandability, actionability, and accuracy of standard patient educational material against artificial intelligence chatbot-derived patient educational material regarding cirrhosis. Methods:. An identical standardized phrase was used to generate patient educational materials on cirrhosis from 4 large language model-derived chatbots (ChatGPT, DocsGPT, Google Bard, and Bing Chat), and the outputs were compared against a pre-existing human-derived educational material (Epic). Objective scores for readability and grade level were determined using Flesch-Kincaid and Simple Measure of Gobbledygook scoring systems. 14 patients/caregivers and 8 transplant hepatologists were blinded and independently scored the materials on understandability and actionability and indicated whether they believed the material was human or artificial intelligence-generated. Understandability and actionability were determined using the Patient Education Materials Assessment Tool for Printable Materials. Transplant hepatologists also provided medical accuracy scores. Results:. Most educational materials scored similarly in readability and grade level but were above the desired sixth-grade reading level. All educational materials were deemed understandable by both groups, while only the human-derived educational material (Epic) was considered actionable by both groups. No significant difference in perceived actionability or understandability among the educational materials was identified. Both groups poorly identified which materials were human-derived versus artificial intelligence-derived. Conclusions:. Chatbot-derived patient educational materials have comparable readability, grade level, understandability, and accuracy to human-derived materials. Readability, grade level, and actionability may be appropriate targets for improvement across educational materials on cirrhosis. Chatbot-derived patient educational materials show promise, and further studies should assess their usefulness in clinical practice
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