Neuroendoscopic septostomy in unilateral and bilateral ventricular hydrocephalus.

PURPOSE: This study describes the results of septostomy (SPT) in terms of success and analysis of follow-up in a series of pediatric patients diagnosed with unilateral ventricular hydrocephalus (UHV) and biventricular hydrocephalus (BVH). METHODS: A total of 29 pediatric patients diagnosed with UVH or BVH were included in this study. In UVH, a neuroendoscopic SPT was performed (sometimes accompanied by NEFPFMO). In those diagnosed with BVH, an SPT combined with VPS was carried out. Demographic, etiological, clinical, and diagnostic variables and percentage of treatment success were collected. RESULTS: SPT was successful during follow-up when no VPS was required in UVH and only unilateral VPS was implanted in BVH. At the time of surgery, 16 patients needed a ventriculoperitoneal shunt. The first SPT was successful in 22 patients, requiring a second surgery in 7 patients, from the oncology group diagnosed with BHV. CONCLUSIONS: The surgical management of UVH and BVH still has some disclosure points to be reviewed. However, SPT seems to be a secure, non-traumatic, and efficient procedure.

Genotyped indigenous Kiwcha adults at high altitude are lighter and shorter than their low altitude counterparts.

BACKGROUND: Anthropometric measures have been classically used to understand the impact of environmental factors on the living conditions of individuals and populations. Most reference studies on development and growth in which anthropometric measures were used were carried out in populations that are located at sea level, but there are few studies carried out in high altitude populations. OBJECTIVE: The objective of this study was to evaluate the anthropometric and body composition in autochthonous Kiwcha permanently living at low and high altitudes. METHODOLOGY: A cross-sectional study of anthropometric and body composition between genetically matched lowland Kiwcha from Limoncocha (n = 117), 230 m in the Amazonian basin, and high-altitude Kiwcha from Oyacachi (n = 95), 3800 m in Andean highlands. Student's t-test was used to analyze the differences between continuous variables, and the chi-square test was performed to check the association or independence of categorical variables. Fisher's exact test or Spearman's test was used when the variable had evident asymmetries with histograms prior to the selection of the test. RESULTS: This study shows that high altitude men are shorter than their counterparts who live at low altitude, with p = 0.019. About body muscle percentage, women at high altitudes have less body muscle percentage (- 24.8%). In comparison, men at high altitudes have significantly more muscle body mass percentage (+ 13.5%) than their lowland counterparts. Body fat percentage was lower among low altitude women (- 15.5%), and no differences were found among men. CONCLUSIONS: This is the first study to be performed in two genotyped controlled matching populations located at different altitudes to our best knowledge. The anthropometric differences vary according to sex, demonstrating that high altitude populations are, in general, lighter and shorter than their low altitude controls. Men at high altitude have more muscled bodies compared to their lowland counterparts, but their body age was older than their actual age.

High-altitude is associated with better short-term survival in critically ill COVID-19 patients admitted to the ICU.

BACKGROUND: Multiple studies have attempted to elucidate the relationship between chronic hypoxia and SARS-CoV-2 infection. It seems that high-altitude is associated with lower COVID-19 related mortality and incidence rates; nevertheless, all the data came from observational studies, being this the first one looking into prospectively collected clinical data from severely ill patients residing at two significantly different altitudes. METHODS: A prospective cohort, a two-center study among COVID-19 confirmed adult patients admitted to a low (sea level) and high-altitude (2,850 m) ICU unit in Ecuador was conducted. Two hundred and thirty confirmed patients were enrolled from March 15th to July 15th, 2020. RESULTS: From 230 patients, 149 were men (64.8%) and 81 women (35.2%). The median age of all the patients was 60 years, and at least 105 (45.7%) of patients had at least one underlying comorbidity, including hypertension (33.5%), diabetes (16.5%), and chronic kidney failure (5.7%). The APACHE II scale (Score that estimates ICU mortality) at 72 hours was especially higher in the low altitude group with a median of 18 points (IQR: 9.5-24.0), compared to 9 points (IQR: 5.0-22.0) obtained in the high-altitude group. There is evidence of a difference in survival in favor of the high-altitude group (p = 0.006), the median survival being 39 days, compared to 21 days in the low altitude group. CONCLUSION: There has been a substantial improvement in survival amongst people admitted to the high-altitude ICU. Residing at high-altitudes was associated with improved survival, especially among patients with no comorbidities. COVID-19 patients admitted to the high-altitude ICU unit have improved severity-of-disease classification system scores at 72 hours.

A comparative analysis of lung function and spirometry parameters in genotype-controlled natives living at low and high altitude.

BACKGROUND: The reference values for lung function are associated to anatomical and lung morphology parameters, but anthropometry it is not the only influencing factor: altitude and genetics are two important agents affecting respiratory physiology. Altitude and its influence on respiratory function has been studied independently of genetics, considering early and long-term acclimatization. OBJECTIVE: The objective of this study is to evaluate lung function through a spirometry study in autochthonous Kichwas permanently living at low and high-altitude. METHODOLOGY: A cross-sectional study of spirometry differences between genetically matched lowland Kichwas from Limoncocha (230 m) at Amazonian basin and high-altitude Kichwas from Oyacachi (3180 m) in Andean highlands. The sample size estimates permitted to recruited 118 patients (40 men and 78 women) from Limoncocha and 95 (39 men and 56 women) from Oyacachi. Chi-square method was used to analyze association or independence of categorical variables, while Student's t test was applied to comparison of means within quantitative variables. ANOVA, or in the case that the variables didn't meet the criteria of normality, Kruskal Wallis test were used to compare more than two groups. RESULTS: The FVC and the FEV1 were significantly greater among highlanders than lowlanders (p value < 0.001), with a proportion difference of 15.2% for men and 8.5% for women. The FEV1/FVC was significantly higher among lowlanders than highlanders for men and women. A restrictive pattern was found in 12.9% of the participants. CONCLUSION: Residents of Oyacachi had greater FVC and FEV1 than their peers from Limoncocha, a finding physiologically plausible according to published literature. Lung size and greater ventilatory capacities could be an adaptive mechanism developed by the highlander in response to hypoxia. Our results support the fact that this difference in FVC and FEV1 is a compensatory mechanism towards lower barometric and alveolar partial pressure of oxygen pressure.

Waterborne diseases and ethnic-related disparities: A 10 years nationwide mortality and burden of disease analysis from Ecuador.

Background: Despite worldwide progress in terms of clean water supply, sanitation, and hygiene knowledge, some middle and most of low-income countries are still experiencing many diseases transmitted using unsafe water and the lack of sanitation. Methods: To understand the impact of all waterborne diseases (WBD) registered in Ecuador. We performed a population-based analysis of all cases and deaths due to WBD in Ecuador based on the national public databases of hospital discharges as a proxy of incidence, in-hospital mortality, and countrywide general mortality rates from 2011 to 2020. Results: In Ecuador, mestizos (mixed European and Indigenous American ancestry) had the greatest morbidity rate (141/100,000), followed by indigenous (63/100,000) and self-determined white patients (21/100,000). However, in terms of mortality, indigenous population have the greatest risk and rates, having a 790% additional mortality rate (2.6/100,000) than the reference group (self-determined white populations) at 0.29/100,000. The burden of disease analysis demonstrated that indigenous had the highest burden of disease caused by WBD with 964 YLL per every 100,000 people while mestizos have 360 YYL per 100,000 and self-determined white Ecuadorians have 109 YYL per 100,000. Conclusions: In Ecuador, waterborne diseases (WBD) are still a major public health problem. We found that indigenous population had higher probability of getting sick and die due to WBD than the rest of the ethnic groups in Ecuador. We also found that younger children and the elderly are more likely to be admitted to the hospital due to a WBD. These epidemiological trends are probably associated with the lower life expectancy found among Indigenous than among the rest of the ethnic groups, who die at least, 39 years earlier than the self-determined white populations, 28 years earlier than Afro-Ecuadorians and 12 years earlier than the mestizos.

Stroke-Related Mortality at Different Altitudes: A 17-Year Nationwide Population-Based Analysis From Ecuador.

Introduction: Worldwide, more than 5.7% of the population reside above 1,500 m of elevation. It has been hypothesized that acute short-term hypoxia exposure could increase the risk of developing a stroke. Studies assessing the effect of altitude on stroke have provided conflicting results, some analyses suggest that long-term chronic exposure could be associated with reduced mortality and lower stroke incidence rates. Methods: An ecological analysis of all stroke hospital admissions, mortality rates, and disability-adjusted life years in Ecuador was performed from 2001 to 2017. The cases and population at risk were categorized in low (<1,500 m), moderate (1,500-2,500 m), high (2,500-3,500 m), and very high altitude (3,500-5,500 m) according to the place of residence. The derived crude and direct standardized age-sex adjusted mortality and hospital admission rates were calculated. Results: A total of 38,201 deaths and 75,893 stroke-related hospital admissions were reported. High altitude populations (HAP) had lower stroke mortality in men [OR: 0.91 (0.88-0.95)] and women [OR: 0.83 (0.79-0.86)]. In addition, HAP had a significant lower risk of getting admitted to the hospital when compared with the low altitude group in men [OR: 0.55 (CI 95% 0.54-0.56)] and women [OR: 0.65 (CI 95% 0.64-0.66)]. Conclusion: This is the first epidemiological study that aims to elucidate the association between stroke and altitude using four different elevation ranges. Our findings suggest that living at higher elevations offers a reduction or the risk of dying due to stroke as well as a reduction in the probability of being admitted to the hospital. Nevertheless, this protective factor has a stronger effect between 2,000 and 3,500 m.

Snake antivenom production in Ecuador: Poor implementation, and an unplanned cessation leads to a call for a renaissance.

Snakebite envenomation is a global health problem. This health problem asymmetrically affects rural populations in developing countries to such an extent that it recently has been listed as a priority neglected tropical disease (NTD). It is estimated that 5.4 million individuals are bitten by snakes each year, causing at least 2.7 million envenomations and more than 100,000 deaths each year. Ecuador has one of the highest snakebite envenomation incidence rates in Latin America, mostly in the coastal and Amazonian provinces. Envenomations in these regions are the result of bites primarily by species of snakes belonging to the Viperidae family. Ecuador was able to locally produce antivenoms, however serious flaws were revealed in the antivenom production process, leading to the decommissioning of the existing facility. In the interest of public health, we have summarized the political and social setbacks experienced by the antivenom serum production plant in Ecuador, while encouraging resuming local production of snake antivenom to improve the responsiveness of the already overburdened health system.

Knowledge, Attitude, and Practice (KAP) Survey toward Skin Cancer among Ecuadorian Population.

BACKGROUND: Skin cancer is one of the most common cancers, and melanoma is a highly preventable cancer. In Ecuador, few studies have evaluated the awareness levels of the population about the disease. For this reason, the objective of this study was to measure the level of knowledge, attitudes, and practices regarding skin cancer and its determining factors. METHODS: A cross-sectional analysis using an online self-assessment questionnaire containing 40 questions was delivered. A total of 537 participants were included in this study. Knowledge, attitude, and practice scores were assigned to each participant based on the number of correct or appropriate responses. Logistic regression analysis was used to calculate crude and adjusted odds ratios. RESULTS: In total, 75% of participants referenced knowledge of the harmful effects related to noncontrolled solar exposure. Concerning sunscreen, 76.7% knew the reason for using it. The female group was 1.68 times more likely to get a higher score than the male group, and the groups between 61-70 and 71-80 years were 0.30 and 0.17 times less likely to get a higher score compared with the less than 20-years-old group, respectively. CONCLUSIONS: The findings of this study indicate the requirement to increase the population's knowledge about skin cancer and possible protection measures. For this reason, the prevention and health promotion programs at a national level from primary healthcare centers are recommended. Due to the limitation of the representativeness of the sample, the use of more studies among Ecuadorian residents of the low socioeconomic level and replication in different provinces of Ecuador is justified.

15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.

BACKGROUND: The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Region (PWACR) of the referred 15q11.2-q13.1 chromosome. Case Report. Our study presents the clinical and genetical features of the first patient with a denovo 15q11.2 interstitial duplication on the maternal allele (inv Dup15q) that mimics a milder Prader-Willi syndrome probably due to an atypical disruption of the SNHG14 gene. Methylation-specific MLPA analysis has confirmed the presence of a very unlikely duplication that lies between breakpoint 1 (BP1) and the middle of BP2 and BP3 (BP3). This atypical alteration might be linked to the milder patient's clinical phenotype. CONCLUSIONS: This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene SNHG14 which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient's clinical phenotype.

Statistical data driven approach of COVID-19 in Ecuador: R 0 and R t estimation via new method.

The growth of COVID-19 pandemic throughout more than 213 countries around the world have put a lot of pressures on governments and health services to try to stop the rapid expansion of the pandemic. During 2009, H1N1 Influenza pandemic, statistical and mathematical methods were used to track how the virus spreads around countries. Most of these models that were developed at the beginning of the XXI century are based on the classical susceptible-infected-recovered (SIR) model developed almost a hundred years ago. The evolution of this model allows us to forecast and compute basic and effective reproduction numbers (R t and R 0 ), measures that quantify the epidemic potential of a pathogen and estimates different scenarios. In this study, we present a traditional estimation technique for R 0 with statistical distributions by best fitting and a Bayesian approach based on continuous feed of prior distributions to obtain posterior distributions and computing real time R t . We use data from COVID-19 officially reported cases in Ecuador since the first confirmed case on February 29th. Because of the lack of data, in the case of R 0 we compare two methods for the estimation of these parameters below exponential growth and maximum likelihood estimation. We do not make any assumption about the evolution of cases due to limited information and we use previous methods to compare scenarios about R 0 and in the case of R t we used Bayesian inference to model uncertainty in contagious proposing a new modification to the well-known model of Bettencourt and Ribeiro based on a time window of m days to improve estimations. Ecuadorian R 0 with exponential growth criteria was 3.45 and with the maximum likelihood estimation method was 2.93. The results show that Guayas, Pichincha and Manabí were the provinces with the highest number of cases due to COVID-19. Some reasons explain the increased transmissibility in these localities: massive events, population density, cities dispersion patterns, and the delayed time of public health actions to contain pandemic. In conclusion, this is a novel approach that allow us to measure infection dynamics and outbreak distribution when not enough detailed data is available. The use of this model can be used to predict pandemic distribution and to implement data-based effective measures.

Potential research ethics violations against an indigenous tribe in Ecuador: a mixed methods approach.

BACKGROUND: Biomedical and ethnographic studies among indigenous people are common practice in health and geographical research. Prior health research misconduct has been documented, particularly when obtaining genetic material. The objective of this study was to crossmatch previously published data with the perceptions of the Waorani peoples about the trading of their genetic material and other biological samples. METHODS: We conducted a mixed methods study design using a tailored 15-item questionnaire in 72 participants and in-depth interviews in 55 participants belonging to 20 Waorani communities about their experiences and perceptions of participating in biomedical research projects. Additionally, we conducted a systematic review of the literature in order to crossmatch the published results of studies stating the approval of an ethics committee and individual consent within their work. RESULTS: A total of 40 men (60%) and 32 women (40%), with a mean age of 57 ± 15 years agreed to be interviewed for inclusion. Five main categories around the violation of good clinical practices were identified, concerning the obtention of blood samples from a recently contacted Waorani native community within the Amazonian region of Ecuador. These themes are related to the lack of adequate communication between community members and researchers as well as the voluntariness to participate in health research. Additionally, over 40 years, a total of 38 manuscripts related to the use of biological samples in Waorani indigenous people were published. The majority of the studies (68%) did not state within their article obtaining research ethics board approval, and 71% did not report obtaining the informed consent of the participants prior to the execution of the project. CONCLUSION: Clinical Research on the Waorani community in the Ecuadorian Amazon basin has been performed on several occasions. Unfortunately, the majority of these projects did not follow the appropriate ethical and professional standards in either reporting the results or fulfilling them. The results of our investigation suggest that biological material, including genetic material, has been used by researchers globally, with some omitting the minimum information required to guarantee transparency and good clinical practices. We highlight the importance of stating ethics within research to avoid breaches in research transparency.

Behavioral and sociodemographic predictors of anxiety and depression in patients under epidemiological surveillance for COVID-19 in Ecuador.

Ecuador has been one of the most affected countries by the Corona Virus Disease 19 (COVID-19) pandemic, by April 2020 this country presented the highest rates of mortality in Latin America. The purpose of the present study was to identify behaviors during confinement and sociodemographic variables associated with the mental health status of confirmed or suspected COVID-19 patients who were part of the epidemiological surveillance program in Ecuador that included mandatory confinement and self-isolation. A cross-sectional study was performed from March 22th to April 18th, 2020 using an online survey. The survey collected socio-demographic information and severity of depressive symptoms using the Patient Health Questionnaire-9 and anxiety symptoms through the Generalized Anxiety Disorder-7. A total of 759 patients completed the questionnaire, 20.3% presented moderate to severe symptoms of depression and 22.5% moderate to severe symptoms of anxiety. Being a woman and from the Coastal region were risk factors. Exercising, maintaining daily routines, and keeping informed about the COVID-19 but limiting to an hour was associated with better mental health. Regression analysis indicated that the mentioned behaviors explained approximately 17% of the variance for depression sum scores and 11.8% of the variance for anxiety sum scores while controlling for gender and region. Understanding the association between sociodemographic variables and psychological states in patients with COVID-19 is relevant to tackle future public mental health problems and to implement health policies that are intended to palliate further psychiatric complications. Promotion of modifiable behaviors such as exercising, maintaining daily routines, and keeping informed about the COVID-19 but limiting to less than an hour is recommended.

Clinical, molecular, and epidemiological characterization of the SARS-CoV-2 virus and the Coronavirus Disease 2019 (COVID-19), a comprehensive literature review.

Coronaviruses are an extensive family of viruses that can cause disease in both animals and humans. The current classification of coronaviruses recognizes 39 species in 27 subgenera that belong to the family Coronaviridae. From those, at least 7 coronaviruses are known to cause respiratory infections in humans. Four of these viruses can cause common cold-like symptoms. Those that infect animals can evolve and become infectious to humans. Three recent examples of these viral jumps include SARS CoV, MERS-CoV and SARS CoV-2 virus. They are responsible for causing severe acute respiratory syndrome (SARS), Middle East respiratory syndrome (MERS) and the most recently discovered coronavirus disease during 2019 (COVID-19). COVID-19, a respiratory disease caused by the SARS-CoV-2 virus, was declared a pandemic by the World Health Organization (WHO) on 11 March 2020. The rapid spread of the disease has taken the scientific and medical community by surprise. Latest figures from 20 May 2020 show more than 5 million people had been infected with the virus, causing more than 330,000 deaths in over 210 countries worldwide. The large amount of information received daily relating to COVID-19 is so abundant and dynamic that medical staff, health authorities, academics and the media are not able to keep up with this new pandemic. In order to offer a clear insight of the extensive literature available, we have conducted a comprehensive literature review of the SARS CoV-2 Virus and the Coronavirus Diseases 2019 (COVID-19).

Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador.

BACKGROUND: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period. METHODS: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM, one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. RESULTS: Forty seven patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV1/FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p < 0.05). The most common pathogenic genetic variants were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A > C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. CONCLUSIONS: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF's patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A > C and the c.206359C > A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.

A Nationwide Study of Incidence and Mortality Due to Traumatic Brain Injury in Ecuador (2004-2016).

OBJECTIVE: Traumatic brain injury (TBI) is a public health problem worldwide. Information regarding TBI from low- and middle-income countries is scarce. The objectives of this study are to determine the incidence, mortality and geodemographic distribution of TBI in Ecuador. METHODS: A population-based analytical study from 2004 to 2016 was conducted in Ecuador. Men and women with a diagnosis of TBI from all ages (0-110 years) were included. Data was obtained from official hospital-discharges records and retrieved from the National Institute of Statistics and Census (INEC) Database. We analyzed data by region, province and canton with a monthly resolution. The incidence, mortality, case fatality rates and the risk of developing TBI within the population were calculated based on the last 13 years of available data. RESULTS: A total of 124,576 hospital admissions and 5,264 deaths due to TBI were registered in Ecuador from 2004 to 2016. The overall TBI-related hospital admission rate was 70.68 per 100,000. The sex- and age-specific rate was 90.1 per 100,000 for men and 64.1 per 100,000 for women. Mestizos' population has the highest adjusted incidence rate of 195.6 per 100,000, followed by the indigenous with 61.4 per 100,000 and Afro-Americans with 14.2 per 100,000. The overall annual mortality rate during the study ranged from 2.11 to 3.35 per 100,000. Case fatality rates were significantly higher in older populations, becoming fatal in up to 27% of men >90 years/old and in 15% of women older than 90 years/old. CONCLUSION: This is the first recorded epidemiological study of the socio-demographic distribution of TBI in Ecuador to date. The study found that young men were almost 4 times more likely to be hospitalized due to TBI than women of this age. Fatalities due to TBI were less likely to occur among younger age groups, increasing significantly among the elderly population. The national incidence rate of TBI has been decreasing since 2011, which coincides with the introduction of stricter alcohol regulation, suggesting that this measure might have played a role in this reduction.

Disfunción Mioneural Periférica Como Único Elemento Para El Diagnostico De La Distrofia Miotónica Tipo I / Myoneural Disfunction For The Diagnosis Of Myotonic Dystrophy Type I

Resumen La distrofia miotónica tipo 1, también conocida como enfermedad de Steinert, es un trastorno mulsistémico que afecta principalmente al sistema músculo esquelético y liso, así como al ojo, corazón, sistema endócrino y sistema nervioso central. Esta patología es infrecuente y se caracteriza por miotonía generalizada y daño multiorgánico. Su expresión clínica es variable, pero en la mayoría de los casos se presenta un grado variable de debilidad muscular, arritmias cardiacas y otros trastornos de la conducción, alteraciones endócrinas, trastornos del sueño, cataratas y calvicie. Esta es una enfermedad hereditaria con tres fenotipos reconocibles: leve, clásico y congénito. Dependiendo de su presentación puede tener mal pronóstico y una progresión usualmente rápida, la misma que carece de un tratamiento efectivo. Presentación del caso: Paciente femenina de 54 años que ingresa al Servicio de Traumatología del Hospital San Vicente de Paul de Ibarra, Ecuador por presentar una fractura de fémur izquierdo resultante de una caída desde su silla de ruedas. Durante la hospitalización la paciente presenta insuficiencia respiratoria tipo II sin causa aparente por lo cual es ingresada a UCI para soporte ventilatorio. La paciente presenta dificultad para lograr el destete ventilatorio debido a la debilidad muscular distal y proximal. La electromiografía revela un patrón miopático compatible con el diagnóstico de distrofia miotónica tipo I. Se realiza traqueotomía y es dada de alta para seguimiento por el servicio de Medicina Interna. Se sugiere la realización de estudio molecular diagnóstico. Conclusiones: El estudio molecular es la opción diagnóstica indicada para determinar con certeza la presencia de la distrofia miotónica tipo I, además de permitir determinar su severidad dependiendo del número de repetidos. Sin embargo, las limitaciones de recursos en el presente caso forzaron a que se busquen evidencias para el diagnóstico a través de la electromiografía. Hasta le alta, el tratamiento sigue siendo sintomático. Debido a que su modo de herencia es autosómico dominante, por expansión de trinucléotidos, se debe buscar familiares que pueden encontrarse asintomáticos y podrían tener esta patología.

Abstract Myotonic dystrophy type 1, also known as Steinert's disease, is a mulsystemic disorder that primarily affects the skeletal and smooth muscle, as well as the eye, heart, endocrine system and central nervous system. This pathology is uncommon and is characterized by generalized myotonia and multiorgan damage. Its clinical expression is variable, but in most cases, there is a variable degree of muscle weakness, cardiac arrhythmias and other conduction disorders, endocrine disorders, sleep disorders, cataracts and baldness. This is a hereditary disease with three recognizable phenotypes: mild, classic and congenital. Depending on the presentation, it may show poor prognosis and a usually rapid progression, which lacks of effective treatment. Case presentation: 54-year-old female patient who enters the Traumatology service of San Vicente de Paul Hospital in Ibarra, Ecuador for presenting a left femur fracture resulting from a fall of her own height. During hospitalization, the patient presented with type II respiratory failure without apparent cause, so she was admitted to the ICU for ventilatory support. The patient had difficulty achieving ventilatory weaning due to distal and proximal muscle weakness. Electromyography reveals a myopathic pattern compatible with the diagnosis of myotonic dystrophy type I. A tracheotomy was performed, and she was discharged for follow-up by the Internal Medicine service. The performance of a molecular diagnostic study was suggested. Conclusions: The molecular study is the diagnostic gold standard to determine with certainty the presence of myotonic dystrophy type I, besides allowing to determine its severity depending on the number of repeated. However, resource limitations in the present case forced evidence to be sought for diagnosis through electromyography. The treatment remains symptomatic. Because of its inheritance pattern being autosomal dominant, due to the expansion of trinucleotides, family members must be evaluated because they may have the diagnosis even though asymptomatic.

Drug prices and trends before and after requesting compulsory licenses: the Ecuadorian experience.

Introduction: The Ecuadorian Institute of Intellectual Property (IEPI) granted several compulsory licenses between 2011 and 2017. In 2009, the President of Ecuador signed a decree that was intended to facilitate the request of compulsory licenses (CL) in the country, not only for Enfarma EP but for any privately owned local company in order to produce more accessible medicines. Areas covered: The national and international regulatory framework of pharmaceutical patents and the local applicability of CL in Ecuador. The authors also analyzed the results of requesting unplanned and epidemiologically unnecessary CL at a national level. Finally, the authors reviewed the effects of requesting, granting or denying CL on price per unit in the last 7 years of available data. Expert opinion: The authors think that compulsory licenses are useful tools when negotiating drug prices or when the demand cannot be satisfied due to economic constrain within the local health system. However, the authors' experience suggests that Ecuador did not have an established and reliable production system neither an adequate plan before requesting CL, therefore the positive effects of this measure were not clearly established.

Attitudes and perceptions of medical doctors towards the local health system: a questionnaire survey in Ecuador.

BACKGROUND: Health systems worldwide rely on health professionals to deliver services and provide framework structures. Considering their opinions about their work environment, the public policies that regulate their work and the deficiencies of the health care system are key aspects of the governance within the system. The aim of this study was to assess the perceptions of Ecuadorian physicians about several aspects of the performance of the health delivery and monitoring systems locally. METHODS: A cross-sectional survey was performed in a group of physicians in Ecuador during 2017 using a self-selection sampling strategy. The participants were contacted by telephone, direct email or in person and asked to complete the online survey which contained 47 questions. RESULTS: A total of 607 full responses were received from physicians, where 68.6% of those had graduated within the last 17 years. 46.4% of respondents were medical specialists, 23.1% general practitioners, 10.0% rural health practitioners, 9.5% sub-specialists, 5.9% were formally enrolled in a specialty program and 5.1% were researchers or administrative physicians. Data analysis of the answers showed that approximately 62% of physician respondents in the study found their current workload at the time of the survey was unmanageable, the most common complaints about the Public Health system in the study being the amount of daily paperwork (78.4%), followed by a perceived lack of vision of the health authorities (60.1%) and the resource limitations within the public hospitals (53.5%). Additionally, 71.8% of respondents referred to limitations of the National Essential Medicines chart- especially on the availability of some drugs- and 57.5% of the respondents reported concerns about the quality of medicines available for treatment. CONCLUSIONS: The data provide basic inputs for health authorities regarding the functioning of the health system in Ecuador. Health professionals' concerns can be a valuable resource for monitoring and improving health system performance: however, there is a perceived sense of disconnection between the governance or management and the service delivery arms of the healthcare system in Ecuador. Whilst not representative of the entirety of the population of doctors, the study does give insight into where improvements to the health system might be made.

Thyroid Cancer in Ecuador, a 16 years population-based analysis (2001-2016).

BACKGROUND: Thyroid cancer is the most frequent endocrine neoplasia worldwide. Information from Andean countries is scarce. In Ecuador there is no reports available of the epidemiology of this type of cancer. The aim of this study is to present the epidemiology and the burden of disease of thyroid cancer. METHODS: This is a cross-sectional population-based analysis of thyroid cancer epidemiology in Ecuador from 2001 to 2016. The variables studied were the overall mortality rate, socio-demographics characteristics of the hospitalized patients, geographical trends and the burden of thyroid cancer in Ecuador. All the data was obtained from the official records reported by the Ministry of Public Health's and retrieved from the public databases of the Vital Statistics Deaths and Births Databases and the National Institute of Census and Statistics (INEC). RESULTS: In Ecuador, over a period of 16 years from 2001 to 2016 a total of 23,632 hospital admissions were reported, which caused 1539 deaths due thyroid cancer. Data demonstrated an annual mean of 1477 cases, which caused 96 deaths per year in average. The annual incidence fluctuated from 3 in 2001 to 22 in 2016 per 100,000 inhabitants. Women were 5 times more likely than men to have thyroid cancer. The average length of stay for both sexes were 4 days. The mortality attributable to thyroid cancer represent less than 0.3% of all cancer deaths. CONCLUSION: Ecuador has one of the highest rates of thyroid cancer in Latin America, ranking first among women in Latin America. Although this cancer is frequent, mortality rate is relatively low. As this is the first national report of thyroid cancer in the country, a further analysis of the pathological variants and the grading of this neoplasia is needed.