Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.

Characteristics of Inhaler Technique in COPD Patients in a Specialized Center in Armenia, Colombia: A Cross-Sectional Study.

Purpose: The aim of this research was to evaluate the technique of using inhaled drugs in patients with a confirmed history of COPD and describe errors in inhaler technique. Patients and Methods: Descriptive cross-sectional study was conducted in patients with a history of COPD using inhalation therapy, attending pulmonology consultation between August 2020 and April 2021 in Armenia, Colombia. A non-probabilistic sample of 80 adult participants was calculated, and the inhalation technique was evaluated (depending on the device used) using a scale validated for Colombia. Descriptive analysis of the qualitative variables was performed using frequencies and percentages. The Chi-Square test and Fisher's exact test (in corresponding cases) were used to look for association relationships between categorical variables. Results: A total of 80 participants were evaluated, of which 66.3% (n = 53) were male, and 32.5% were older than 80 years. Clinically, 30.0% (n = 24) were classified as Modified Medical Research Council Dyspnea Scale (mMRC) grade 3, and 51.2% (n = 41) had at least one exacerbation per year. The main comorbidity was hypertension (40.3%). Pressurized metered-dose inhalers with spacer were the most used device at 22.7% (n = 39). Incorrect technique (at least one error in the steps of the inhalation technique used) was found in 48.7%. The most frequent error among all the techniques was the failure to perform pre-inspiratory exhalation. No significant differences were observed between the development of the technique and the characteristics of the participants. Conclusion: Nearly half of the patients who use inhalation devices make errors in the technique. Patient education and training of healthcare personnel represent a fundamental pillar in mitigating the incorrect use of these devices.

Knowledge, Perceptions, and Practices on Risks and Disasters Among Medical Students. A Multicenter Cross-Sectional Study in 9 Latin American and Caribbean Countries.

Purpose: The objective of this study was to describe the level of knowledge, perceptions, and practices in relation to risks and disasters in medical schools in Latin America and the Caribbean. Participants and Methods: Multicenter, observational, analytical, non-probabilistic convenience sample study with 2546 medical students in 9 countries of Latin America and the Caribbean. An online survey was conducted between October 2020 and November 2020, using an instrument validated in each country to assess knowledge, perceptions, and practices regarding risk and disaster prevention measures. Frequencies, percentages, mean and standard deviation (SD) were used for descriptive analysis. Differences resulting from the relationship between the variables studied and the level of knowledge were obtained using the Chi-square test. P-value <0.05 was accepted as statistically significant for all analyses. Results: The highest proportion of responses came from women, third-semester students, and those studying in public universities. Students from Colombia and Honduras had the highest percentage of high levels of knowledge about disasters, while Peruvian students had the highest percentage of low levels of knowledge. Women and students from public universities showed a higher proportion of high levels of knowledge. 52.7% considered that they live in a country with a medium risk of natural disasters, while 91.2% said that Latin American and Caribbean countries are not prepared to face natural disasters. Only 43.6% believe they are prepared to help in the event of a natural disaster. Conclusion: Most of medical students from Latin America and Latin America and the Caribbean have high and medium level of knowledge in risks and disasters. However, the implementation of disaster training programs for medical students has the potential to improve the preparedness, knowledge, and skills that are important for medical personnel to improve their self-confidence, and their ability to respond, resulting in more effective systems.

How much do Latin American medical students know about radiology? Latin-American multicenter cross-sectional study.

BACKGROUND: Radiology is a useful tool for diagnosis and intervention in medical practice, and all the components within the teaching-learning process of this subject during undergraduate studies influence successful knowledge application. OBJECTIVE: This study aimed to describe the level of knowledge in radiology of students in the last two years of medical school and curricular characteristics of their courses in seven Latin American countries. METHODS: A multicenter cross-sectional study was carried out on medical students of 7 Latin American countries (Bolivia, Brazil, Colombia, Ecuador, Mexico, Paraguay, and Peru) in their final two years of medical school, using an online questionnaire validated by experts and adapted for each country that assessed knowledge and curricular characteristics in radiology subject. Scores were assigned according to the number of correct answers for the knowledge test. The T-test, and regression analysis with one-way ANOVA were used to search for relationships between the level of knowledge and other variables. RESULTS: A total of 1514 medical students participated in this study. All countries had similar participation (n > 200); most participants were women 57.8%. The country with the highest knowledge score was Brazil. Male, sixth year (internship) and from public universities students had higher knowledge score (n < 0.05). Participants, who considered radiology more important, and who reported higher compliance with teaching staff with the proposed syllabus, and programmed classes, obtained better scores (n < 0.05). CONCLUSIONS: Latin American medical students included in this study have a regular overall level of knowledge of Radiology, apparently influenced by curricular differences such as class and academic program compliance. Efforts to better understand and improve academic training are indispensable. LIMITATIONS: The study was subject to selection bias determined by non-probability convenience sampling. The questionnaire assessed only theoretical knowledge and the evaluation system was designed by the investigators.

Eficacia y tolerabilidad de Nitazoxanida para parasitismo intestinal en escolares atendidos en el Centro de Salud de la Universidad del Quindío / Efficacy and tolerability of Nitazoxanide for intestinal parasitism in schoolchildren treated at the Health Center of the University of Quindío

Resumen Objetivo: Describir la efectividad del tratamiento antiparasitario intestinal brindado a niños de cuatro a nueve años atendidos en el centro de Salud de la Universidad del Quindío entre Julio de 2017 a marzo de 2018. Materiales y métodos: Estudio observacional prospectivo. Se extrajeron datos de historias clínicas de pacientes con rango de edad de 4 a 9 años, quienes consultaron en el Centro de Salud de la Universidad del Quindío y se diagnosticaron mediante coprológico con blastocistosis o giardiasis. Se seleccionaron las historias cuyo tratamiento fuese Nitazoxanida y tuviesen un coprológico control postratamiento. Se presentan estadísticas descriptivas; porcentaje de eficacia y tolerabilidad. Resultados: De 15 niños tratados con Nitazoxanida, respondieron al tratamiento 10, en quienes no se hallaron parásitos en el coprológico control. Con una eficacia del 83,3% (IC95% 60 - 100) en blastocistosis, 57,1% (IC95% 32 - 82%) en giardiasis. Conclusión: Se evidenciaron resultados porcentuales similares a los reportados en la literatura, siendo más eficaz en blastocisotisis que en giardiasis.

Abstract Objective: To describe the effectiveness of the intestinal antiparasitic treatment given to children ranging between 4 and 9 years old that were attended in the Health Center of the University of Quindío in the period of July 2017 and March 2018. Materials and methods: Prospective observational study. Data were extracted from medical records of patients with an age range of 4 to 9 years, who consulted at the Health Center of the University of Quindío and were diagnosed through coprological tests with Blastocystis and Giardiasis. The clinical records were selected by whose treatment was done with Nitazoxanide or Albendazole with coprological results of post-treatment check-up. Descriptive statistics are presented along with percentage of efficacy and tolerability. Results: From 15 children treated with Nitazoxanide, 10 responded to the treatment, who presented no parasites in the coprological check-up. The remaining population presented some type of parasitic infection (n = 5). With an efficiency of 83,3% (IC95% 32 - 82%) in blastocystis, and 57,1% (IC95% 32 - 82%) in giardiasis. Conclusion: Percentage results similar to those reported in the literature were evidenced, being more effective in blastocystis than in giardiasis.