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.

Exploring healthcare barriers and satisfaction levels among deaf individuals in Ecuador: A video-based survey approach.

BACKGROUND: Approximately 80% of Deaf individuals live in low- and middle-income countries, where health systems often overlook their specific needs. This communication gap can result in misdiagnosis and inappropriate treatment, impacting their overall satisfaction with healthcare services. OBJECTIVES: This study aims to uncover barriers to healthcare access and preferences among the Deaf population in Ecuador, and the role of communication barriers in shaping satisfaction levels with healthcare services. METHODS: The study gathered data from 386 participants through online surveys, focusing on demographic characteristics, healthcare experiences, communication methods, and levels of satisfaction. Descriptive statistics and association analyses were employed to analyze the data. RESULTS: The study reveals that nearly all participants possessed an officially recognized disability (95.9%) and 53.9% reported hereditary deafness. Ecuadorian sign language was predominant (60.9%). Communication barriers were evident, with 65.0% having trouble understanding medical instructions, and 66.6% identifying a deficiency of tools for Deaf individuals in healthcare settings. Satisfaction levels were associated with the presence of interpreters during medical care, with 46.6% expressing a preference for interpreters over other communication methods. Additionally, private healthcare facilities were perceived as providing better services, despite being less frequently accessed (38.9%). Dissatisfaction was evident, particularly in aspects of communication and physician courtesy. CONCLUSIONS: This study underscores the importance of tailoring healthcare services to address the unique needs of the Deaf population. Communication barriers emerged as a central obstacle, necessitating the inclusion of sign language interpreters and improvement of resources. The study's implications extend to healthcare equity in developing nations, emphasizing the significance of patient-centered care and inclusive healthcare practices.

Maternal mortality and COVID-19: A nationwide ecological analysis from Ecuador.

BACKGROUND: During the COVID-19 pandemic, distinct population subsets, including pregnant women, have been differentially affected. While over 90% of COVID-19-infected pregnant women experience a benign course, a subset demonstrates marked clinical exacerbation. Symptomatic pregnant individuals, in particular, present a heightened risk of severe disease in comparison to their non-pregnant counterparts. OBJECTIVE: The objective of this study is to systematically evaluate the epidemiological characteristics of COVID-19 in pregnant women, assess related maternal mortalities, ascertain the case fatality rate, and delineate associated risk factors. DESIGN: This is a comprehensive population-based ecological study. METHODOLOGY: A population-based study was conducted to investigate the epidemiological patterns of COVID-19-associated morbidity and mortality in pregnant women in Ecuador from 27 February 2020 to 14 May 2021. RESULTS: A total of 3274 positive COVID-19 cases were identified among pregnant women, with 22 official fatalities, yielding a case fatality rate of 0.67%. The majority of cases were of Mestizo ethnicity (92.66%); however, the highest case fatality rate was noted among indigenous pregnant women (case fatality rate = 1.25%), those aged between 40 and 44 years (case fatality rate = 2.68%), and those with a history of comorbidities (2.08%). Pregnant women residing at lower altitudes (<2500 m) exhibited a higher incidence rate (0.20/100,000) compared to those at higher altitudes (>2500 m), which stood at 0.17/100,000. CONCLUSION: The COVID-19 pandemic has profoundly impacted pregnant women in Ecuador during the first 14 months, particularly those with comorbidities, older age, and of indigenous ethnicity. These factors have heightened their vulnerability and susceptibility to severe COVID-19 infection and subsequent mortality. This underscores the urgency for comprehensive protective measures, including prioritization for vaccination. Further studies are needed to inform tailored prevention strategies and therapeutic interventions for these high-risk groups.

A proposed analytical approach to estimate excess daily mortality rates in Ecuador.

Background: The COVID-19 pandemic has proved deadly all over the globe; however, one of the most lethal outbreaks occurred in Ecuador. Aims: This study aims to highlight the pandemic's impact on the most affected countries worldwide in terms of excess deaths per capita and per day. Methods: An ecological study of all-cause mortality recorded in Ecuador was performed. To calculate the excess deaths relative to the historical average for the same dates in 2017, 2018, and 2019, we developed a bootstrap method based on the central tendency measure of mean. A Poisson fitting analysis was used to identify trends on officially recorded all-cause deaths and COVID-19 deaths. A bootstrapping technique was used to emulate the sampling distribution of our expected deaths estimator µâŒ¢deaths by simulating the data generation and model fitting processes daily since the first confirmed case. Results: In Ecuador, during 2020, 115,070 deaths were reported and 42,453 were cataloged as excess mortality when compared to 2017-2019 period. Ecuador is the country with the highest recorded excess mortality in the world within the shortest timespan. In one single day, Ecuador recorded 1,120 deaths (6/100,000), which represents an additional 408% of the expected fatalities. Conclusion: Adjusting for population size and time, the hardest-hit country due to the COVID-19 pandemic was Ecuador. The mortality excess rate shows that the SARS-CoV-2 virus spread rapidly in Ecuador, especially in the coastal region. Our results and the proposed new methodology could help to address the real situation of the number of deaths during the initial phase of pandemics.

Assessment of preparedness and proficiency in basic and advanced life support among nursing professionals: a cross-sectional study.

Background: Cardiac diseases are among the leading causes of death worldwide, including sudden cardiac arrest in particular. Nursing professionals are often the first to encounter these scenarios in various settings. Adequate preparation and competent knowledge among nurses significantly impact survival rates positively. Aim: To describe the state of knowledge about Basic and Advanced Life Support guidelines among Ecuadorian nursing professionals. Methodology: A nationwide, descriptive, cross-sectional study was conducted from February to April 2023 among Ecuadorian nursing professionals. Participants were invited through official social media groups such as WhatsApp and Facebook. The study utilized a self-administered online questionnaire to evaluate theoretical knowledge of Basic Life Support (BLS) and Advanced Life Support (ALS). Knowledge scores were assigned based on the number of correct answers on the tests. T-tests and one-way ANOVA were used to examine relationships between knowledge scores and demographic and academic training variables. Results: A total of 217 nursing professionals participated in the study. The majority of the participants were female (77.4%) and held a university degree (79.9%). Among them, only 44.7% claimed to have obtained a BLS training certificate at least once, and 19.4% had ALS certification. The overall BLS knowledge score (4.8/10 ± 1.8 points) was higher than the ALS score (4.3/10 ± 1.8 points). Participants who had obtained BLS certification and those who used evidence-based summaries as a source of extracurricular training achieved higher BLS and ALS knowledge scores. Conclusion: Ecuadorian nursing professionals in this study exhibited a significant deficiency in theoretical knowledge of BLS and ALS. Formal training and preparation positively impact life support knowledge. Support and inclusion of Ecuadorian nurses in training and academic preparation programs beginning at the undergraduate level are essential for promoting life support knowledge and improving outcomes.

Beyond the acute phase: a comprehensive literature review of long-term sequelae resulting from infectious diseases.

Infectious diseases have consistently served as pivotal influences on numerous civilizations, inducing morbidity, mortality, and consequently redirecting the course of history. Their impact extends far beyond the acute phase, characterized by the majority of symptom presentations, to a multitude of adverse events and sequelae that follow viral, parasitic, fungal, or bacterial infections. In this context, myriad sequelae related to various infectious diseases have been identified, spanning short to long-term durations. Although these sequelae are known to affect thousands of individuals individually, a comprehensive evaluation of all potential long-term effects of infectious diseases has yet to be undertaken. We present a comprehensive literature review delineating the primary sequelae attributable to major infectious diseases, categorized by systems, symptoms, and duration. This compilation serves as a crucial resource, illuminating the long-term ramifications of infectious diseases for healthcare professionals worldwide. Moreover, this review highlights the substantial burden that these sequelae impose on global health and economies, a facet often overshadowed by the predominant focus on the acute phase. Patients are frequently discharged following the resolution of the acute phase, with minimal long-term follow-up to comprehend and address potential sequelae. This emphasizes the pressing need for sustained vigilance, thorough patient monitoring, strategic health management, and rigorous research to understand and mitigate the lasting economic and health impacts of infectious diseases more fully.

Assessing the Proficiency in Basic and Advanced Life Support Among Physicians in Ecuador: A Cross-Sectional Study.

Purpose: Cardiorespiratory arrest's unpredictability poses a global health challenge, with gaps in physicians' life support knowledge potentially leading to poor patient outcomes, a factor yet unstudied among Ecuadorian physicians. This study aims to elucidate the state of physicians' theoretical knowledge in Ecuador based on Basic Life Support (BLS) and Advanced Life Support (ALS) guidelines. Patients and methods: A national cross-sectional online 35-questions survey was conducted between February and March 2023 using a self-administered, expert-validated questionnaire. Participants' responses were obtained through official social media groups (WhatsApp and Facebook). The survey evaluated the theoretical knowledge of BLS and ALS, with scores based on the number of correct answers out of a maximum of 10.0 points. For descriptive analysis, frequencies, percentages, means, and standard deviations (SD) were used. The T-test and one-way ANOVA were utilized to analyze the associations between knowledge levels and demographic and academic training variables of Ecuadorian doctors. Values of p < 0.05 were considered statistically significant for all analyses. Results: The survey garnered responses from 385 physicians, with a majority being female (56.6%) and possessing less than 3 years of work experience (75.1%). Of these, 71.7% and 51.9% held BLS and ALS certifications, respectively. Knowledge scores for BLS (5.8/10 ± 1.6) surpassed those for ALS (4.7/10 ± 1.8) (p < 0.001). Physicians with less than 3 years of work experience exhibited higher knowledge scores in both BLS and ALS tests (p < 0.05). Conclusion: This study revealed a notable deficiency in the theoretical knowledge of BLS and ALS among surveyed Ecuadorian physicians. Factors such as prior certification and years of work experience appeared to influence knowledge levels. Continual training and updates in life support protocols at universities and healthcare institutions are key to enhancing physicians' skills and patient outcomes.

Clinical profiling of pediatric microtia patients: A cross-sectional analysis at a leading pediatric hospital in Ecuador (2015-2022).

BACKGROUND: Microtia is a frequent congenital deformity of the pinna, often with hearing loss. This study reviews the clinical profiles of microtia pediatric patients treated at a referral hospital in Quito, Ecuador, from 2015 to 2022. METHODS: A cross-sectional descriptive study was carried out based on the analysis of medical records of pediatric patients with microtia treated between January 2015 and December 2022 at the Hospital Pediátrico Baca Ortiz in Quito, Ecuador. Descriptive statistics were used, and the Chi-square test assessed associations between categorical variables. RESULTS: Of the 235 patients evaluated, 59.6% were male, 83.4% lived at high altitudes (2500-3500 m), and 19.1% had a family history of microtia. Grade III microtia was diagnosed in 63.8%, predominantly on the right side. Nearly all (99.1%) had hearing loss. Other anatomical alterations were observed in 27.7%, primarily the preauricular appendage. Bone vibrator implantation was a common treatment for 24.3%. Altitude did not show a significant correlation with microtia characteristics. CONCLUSIONS: Most patients had grade III microtia with associated hearing loss. Despite the high prevalence at elevated altitudes, no significant altitude-disease correlation was found. The study highlights the need for further research on microtia in regions like Ecuador.

The Pharmaceutical Market for Biological Products in Latin America: A Comprehensive Analysis of Regional Sales Data.

The global market for biologics and biosimilar pharmaceutical products is experiencing rapid expansion, primarily driven by the continuous discovery of new molecules. However, information regarding Latin America's biological market remains limited.

Epidemiological characterization of ischemic heart disease at different altitudes: A nationwide population-based analysis from 2011 to 2021 in Ecuador.

BACKGROUND: Cardiovascular diseases, including ischemic heart disease, are the leading cause of premature death and disability worldwide. While traditional risk factors such as smoking, obesity, and diabetes have been thoroughly investigated, non-traditional risk factors like high-altitude exposure remain underexplored. This study aims to examine the incidence and mortality rates of ischemic heart disease over the past decade in Ecuador, a country with a diverse altitude profile spanning from 0 to 4,300 meters. METHODS: We conducted a geographic distribution analysis of ischemic heart disease in Ecuador, utilizing hospital discharge and mortality data from the National Institute of Census and Statistics for the years 2011-2021. Altitude exposure was categorized according to two distinct classifications: the traditional division into low (< 2,500 m) and high (> 2,500 m) altitudes, as well as the classification proposed by the International Society of Mountain Medicine, which delineates low (< 1,500 m), moderate (1,500-2,500 m), high (2,500-3,500 m), and very high (3,500-5,800 m) altitudes. FINDINGS: From 2011-2021, we analyzed 49,765 IHD-related hospital admissions and 62,620 deaths. Men had an age-adjusted incidence rate of 55.08/100,000 and a mortality rate of 47.2/100,000, compared to 20.77/100,000 and 34.8/100,000 in women. Incidence and mortality surged in 2020 by 83% in men and 75% in women. Altitudinal stratification revealed higher IHD rates at lower altitudes (<2500 m), averaging 61.65 and 121.8 per 100,000 for incidence and mortality, which declined to 25.9 and 38.5 at elevations >2500 m. Men had more pronounced rates across altitudes, exhibiting 138.7% and 150.0% higher incidence at low and high altitudes respectively, and mortality rates increased by 48.3% at low altitudes and 23.2% at high altitudes relative to women. CONCLUSION: Ecuador bears a significant burden of ischemic heart disease (IHD), with men being more affected than women in terms of incidence. However, women have a higher percentage of mortality post-hospital admission. Regarding elevation, our analysis, using two different altitude cutoff points, reveals higher mortality rates in low-altitude regions compared to high-altitude areas, suggesting a potential protective effect of high elevation on IHD risk. Nevertheless, a definitive dose-response relationship between high altitude and reduced IHD risk could not be conclusively established.

A nationwide epidemiological and geodemographic analysis of lymphatic filariasis in Ecuador: a neglected and often forgotten disease in Ecuador.

Introduction: Lymphatic filariasis (LF) is a neglected parasitic disease transmitted by mosquitoes and affecting the lymphatic system. The aim of this study was to analyze the epidemiological and sociodemographic characteristics of patients with LF during the last 11 years of available data in Ecuador. Methods: A 11-year nationwide analysis of hospital admission and in-hospital mortality based on the National Institute of Statistics and Census (INEC) data was conducted in Ecuador from 2011 to 2021. The International Classification of Diseases 10th Revision (ICD-10) code for filariasis (ICD: B74) was used to retrieve information on severe LF as a proxy for incidence among 221 Ecuadorian cities. Results: A total of 26 hospital admissions and 3 deaths due to LF were registered. The highest mortality rate was found in populations over 80 years. Men accounted for 62.5% (n = 17) of total number of cases with an average incidence rate of 1.7 cases per/1,000,000, while females accounted for 34.6% (n = 9), representing 1 case per/1,000,000 woman. Cities located at lower altitude (459/1,000,000) reported higher incidence rates than those located at higher altitudes (7.4/1,000,000). Conclusion: This is the first study on LF in Ecuador. Although, Ecuador is not considered endemic for LF, we found evidence of the presence of this disease in recent years. The implementation and improvement of an adequate integrated epidemiological surveillance system will allow early identification of cases and therefore their respective treatment.

Effects of Smoking Marijuana on the Respiratory System: A Systematic Review.

BACKGROUND: The prevalence of marijuana use and its derivatives has surged over the past century, largely due to increasing legalization globally. Despite arguments advocating its benefits, marijuana smoking exposes the lungs to harmful combustion byproducts, leading to various respiratory issues such as asthma, pneumonia, emphysema, and chronic obstructive pulmonary disease. METHODS: We embarked on an extensive literature search, utilizing PubMed/Medline, Scopus, Web of Science, and Google Scholar databases, identifying 200 studies. After the elimination of duplicates, and meticulous review of abstracts and full texts, 55 studies were included in our analysis. RESULTS: Current literature demonstrates that marijuana use negatively impacts lung function, triggering symptoms like chronic cough, sputum production, and wheezing, and diminishing FEV1/FVC ratio in spirometry tests. Moreover, prolonged or chronic marijuana use augments the risk of respiratory function impairment. While the carcinogenic effects of marijuana are still contested, a weak correlation between marijuana use and lung cancer has been observed in some studies. Additionally, instances of other pathologies linked to marijuana use have been reported, including the development of COPD, pulmonary bullae, spontaneous pneumothorax, pleuritic pain, chronic pulmonary aspergillosis, hemoptysis, and pulmonary Langerhans cell histiocytosis. CONCLUSIONS: The evidence underscores that marijuana use is detrimental to respiratory health. In light of the escalating trend of marijuana use, particularly among the youth, it is imperative to advocate public health messages discouraging its consumption.