mHealth Monitoring of Treatment of Cutaneous Leishmaniasis Patients: A Community-Based Implementation Study.

Cutaneous leishmaniasis (CL) remains a global health problem. Compelled by the protracted healing process, initial and final outcomes of treatment are determined at 90 and 180 days, respectively, after initiation of treatment. Loss to follow-up during these intervals is substantial. Consequently, the effectiveness of treatment is largely unknown. We conducted an effectiveness-implementation hybrid design study of a community-based mobile health (mHealth) strategy to monitor adherence to anti-leishmanial treatment, adverse drug reactions, and therapeutic response compared with standard of care in two rural communities of Colombia. Three implementation outcomes were evaluated: usability and acceptability by qualitative methods and fidelity using quantitative methods. Fifty-seven patients were prospectively included in the mHealth intervention and 48 in the standard-of-care group. In addition, 24 community health leaders (CHLs), health workers, and patients participated in qualitative evaluations. The intervention significantly increased the proportion of patients having follow-up of therapeutic outcomes 90 and 180 days after initiating treatment from 4.2% (standard of care) to 82.5% (intervention), P < 0.001. The proportion of patients having records of treatment adherence, adverse drug reactions, and therapeutic response also increased significantly (P < 0.001). Fidelity to the intervention (recording of treatment adherence, adverse drug reactions, lesion photographs, and evaluation of therapeutic response) was 70-100%. The app was highly accepted by CHLs, health workers, and patients, who perceived that the app improved case identification and follow-up and met a public health need. Although usability was high, low connectivity affected real-time transmission of data. This community-based mHealth strategy facilitated access to health care for CL in rural areas and knowledge of treatment effectiveness.

Randomized trial evaluating an mHealth intervention for the early community-based detection and follow-up of cutaneous leishmaniasis in rural Colombia.

BACKGROUND: In Latin America, cutaneous leishmaniasis primarily affects dispersed rural communities, that have limited access to the public health system and medical attention. Mobile health (mHealth) strategies have shown potential to improve clinical management and epidemiological surveillance of neglected tropical diseases, particularly those of the skin. METHODS: The Guaral +ST app for Android was designed to monitor cutaneous leishmaniasis treatment and assess therapeutic response. We carried out a randomized trial in the coastal municipality of Tumaco in southwestern Colombia, with parallel arms comparing a) follow-up aided by the app to b) standard institution-based follow-up. Treatment was prescribed according to national guidelines. Follow-up of therapeutic response was scheduled at the end of treatment and at 7, 13 and 26 weeks after the start of treatment. The primary endpoint was the proportion of participants who were monitored at or around week 26, allowing outcome and effectiveness of treatment to be determined. RESULTS: Follow-up of treatment and outcome assessment was achieved in significantly more patients in the intervention arm than the controls, Of the 75 participants in the two randomized arms, 74 had information on whether or not treatment was followed and outcome determined at or around week 26. Among these, 26/49 (53.1%) were evaluated in the intervention arm, and none (0/25, 0%) in the control arm (difference = 53.1%, 95% confidence interval 39.1-67.0%, p<0.001). Of the 26 participants evaluated at or around week 26 in the intervention arm, 22 (84.6%) had cured. There were no serious adverse events, nor events of severe intensity among patients monitored by CHW using the app. CONCLUSION: This study provides proof of concept for mHealth to monitor treatment of CL in remote and complex settings, deliver improved care and to provide information to the health system on the effectiveness of treatment as it is delivered to affected populations. CLINICAL TRIAL REGISTRATION: ISRCTN54865992.

Sensitivity and Specificity of the Remote Evaluation of Therapeutic Response in Cutaneous Leishmaniasis Using Photographs from a Mobile Application.

Cutaneous leishmaniasis (CL) primarily affects people in remote settings with limited access to health services. mHealth tools offer an opportunity to overcome knowledge gaps about clinical response to treatment. We evaluated the validity of the Guaral+ST mobile application for the remote assessment of therapeutic response in patients with CL, through photographs of lesions captured with the app by community health volunteers. Patients with confirmed CL were followed at weeks 13 and 26 after completion of treatment to assess therapeutic response in two clinical settings in southwest Colombia. Direct evaluation of lesions performed by an experienced physician was considered the reference standard. Photographs of lesions taken by CHV or nurse assistants with the mobile app, were independently evaluated by three physicians to define clinical response. A summary measure of clinical outcome defined by the three physicians was considered the index test. Sensitivity, specificity, and positive and negative predictive values were estimated. Interrater reliability (kappa) was calculated. Among 53 participants with CL who had at least one follow-up visit, the sensitivity of therapeutic response evaluation through photographs taken with the Guaral+ST app, compared with direct evaluation by an expert physician, had high validity with sensitivity of 100% (95% confidence interval: 80.5-100%) and specificity of 97.2% (95% confidence interval: 85.5-99.9%). The chance-adjusted agreement (κ) was > 0.8, which is conventionally characterized as almost perfect. The high accuracy of the remote evaluation of photographs for the assessment of therapeutic response supports the use of mHealth tools for improving access to treatment follow-up for CL.

Electronegativity under Confinement.

The electronegativity concept was first formulated by Pauling in the first half of the 20th century to explain quantitatively the properties of chemical bonds between different types of atoms. Today, it is widely known that, in high-pressure regimes, the reactivity properties of atoms can change, and, thus, the bond patterns in molecules and solids are affected. In this work, we studied the effects of high pressure modeled by a confining potential on different definitions of electronegativity and, additionally, tested the accuracy of first-order perturbation theory in the context of density functional theory for confined atoms of the second row at the Hartree-Fock level. As expected, the electronegativity of atoms at high confinement is very different than that of their free counterparts since it depends on the electronic configuration of the atom, and, thus, its periodicity is modified at higher pressures.

Data management plan for a community-level study of the hidden burden of cutaneous leishmaniasis in Colombia.

OBJECTIVES: Cutaneous leishmaniasis is a vector-borne parasitic disease whose lasting scars can cause stigmatization and depressive symptoms. It is endemic in remote rural areas and its incidence is under-reported, while the effectiveness, as opposed to efficacy, of its treatments is largely unknown. Here we present the data management plan (DMP) of a project which includes mHealth tools to address these knowledge gaps in Colombia. The objectives of the DMP are to specify the tools and procedures for data collection, data transfer, data entry, creation of analysis dataset, monitoring and archiving. RESULTS: The DMP includes data from two mobile apps: one implements a clinical prediction rule, and the other is for follow-up and treatment of confirmed cases. A desktop interface integrates these data and facilitates their linkage with other sources which include routine surveillance as well as paper and electronic case report forms. Multiple user and programming interfaces are used, as well as multiple relational and non-relational database engines. This DMP describes the successful integration of heterogeneous data sources and technologies. However the complexity of the project meant that the DMP took longer to develop than expected. We describe lessons learned which could be useful for future mHealth projects.

Links among the Fukui potential, the alchemical hardness and the local hardness of an atom in a molecule.

This paper presents a brief summary of the difficulty that resides in the definition of the elusive concept of local chemical hardness. We argue that a definition of local hardness should be useful to a reactivity principle and not just as a mere definition. We then continue with a formal discussion about the benefits and difficulties of using the Fukui potential, which is interpreted as an alchemical derivative (alchemical hardness), as descriptor of local hardness of molecules. Computational evidence shows that the alchemical hardness is at least as good a descriptor as the combination of other two well-stabilized descriptors of local hardness, such as the Fukui function and grand canonical local hardness. Although our results are auspicious for the alchemical hardness as descriptor of local hardness, we finish by calling the attention of the community on the importance of discussing the raison d'être of a local hardness function and its main characteristics. We suggest that an axiomatic construction of local hardness could be they way of constructing a local hardness which is both useful and free of arbitrariness.

Adaptation and performance of a mobile application for early detection of cutaneous leishmaniasis.

BACKGROUND: Detection and management of neglected tropical diseases such as cutaneous leishmaniasis present unmet challenges stemming from their prevalence in remote, rural, resource constrained areas having limited access to health services. These challenges are frequently compounded by armed conflict or illicit extractive industries. The use of mobile health technologies has shown promise in such settings, yet data on outcomes in the field remain scarce. METHODS: We adapted a validated prediction rule for the presumptive diagnosis of CL to create a mobile application for use by community health volunteers. We used human-centered design practices and agile development for app iteration. We tested the application in three rural areas where cutaneous leishmaniasis is endemic and an urban setting where patients seek medical attention in the municipality of Tumaco, Colombia. The application was assessed for usability, sensitivity and inter-rater reliability (kappa) when used by community health volunteers (CHV), health workers and a general practitioner, study physician. RESULTS: The application was readily used and understood. Among 122 screened cases with cutaneous ulcers, sensitivity to detect parasitologically proven CL was >95%. The proportion of participants with parasitologically confirmed CL was high (88%), precluding evaluation of specificity, and driving a high level of crude agreement between the app and parasitological diagnosis. The chance-adjusted agreement (kappa) varied across the components of the risk score. Time to diagnosis was reduced significantly, from 8 to 4 weeks on average when CHV conducted active case detection using the application, compared to passive case detection by health facility-based personnel. CONCLUSIONS: Translating a validated prediction rule to a mHealth technology has shown the potential to improve the capacity of community health workers and healthcare personnel to provide opportune care, and access to health services for underserved populations. These findings support the use of mHealth tools for NTD research and healthcare.

Wristbands Containing Accelerometers for Objective Arm Swing Analysis in Patients with Parkinson's Disease.

In patients with Parkinson's disease (PD), arm swing changes are common, even in the early stages, and these changes are usually evaluated subjectively by an expert. In this article, hypothesize that arm swing changes can be detected using a low-cost, cloud-based, wearable, sensor system that incorporates triaxial accelerometers. The aim of this work is to develop a low-cost, assistive diagnostic tool for use in quantifying the arm swing kinematics of patients with PD. Ten patients with PD and 11 age-matched, healthy subjects are included in the study. Four feature extraction techniques were applied: (i) Asymmetry estimation based on root mean square (RMS) differences between arm movements; (ii) posterior-anterior phase and cycle regularity through autocorrelation; (iii) tremor energy, established using Fourier transform analysis; and (iv) signal complexity through the fractal dimension by wavelet analysis. The PD group showed significant (p < 0.05) reductions in arm swing RMS values, higher arm swing asymmetry, higher anterior-posterior phase regularities, greater "high energy frequency" signals, and higher complexity in their XZ plane signals. Therefore, the novel, portable system provides a reliable means to support clinical practice in PD assessment.

Saturdays-in-Motion: Education and Empowerment through an Interdisciplinary Team Approach for Parkinson's Disease in Cali-Colombia.

INTRODUCTION: Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative disorders. The progression of PD produces an important disease burden in patients due to functional impairment, which also has repercussions on caregivers. In addition, it has become a challenge for health systems, especially in developing countries, which have limited resources. Multidisciplinary teams with a community approach have proved effective in high-income countries; however, there is no reported literature in low- and middle-income countries about this kind of initiative. OBJECTIVE: This paper aims to document the experience of patients, caregivers, and experts in a community approach as an innovative model in a middle-income country. METHODS: A quantitative descriptive research was conducted. The selection criteria were having a PD diagnosis, attending with a caregiver to Saturdays in Motion (SIM), or being a clinical expert invited to SIM. PD patients and their caregivers answered three surveys on their points of view with respect to SIM: SIM and their quality of life (QoL) and PDQ-39 and Zarit, whereas clinical experts completed two questions related to the SIM program. Descriptive statistics were used to summarize the results of the surveys and clinical tests. RESULTS: Forty-eight, twenty-four, and twenty-one subjects answered surveys one, two, and three, respectively. In total, four clinical experts were interviewed. 87.9% of the patients consider that SIM activities improved their QoL. The most affected areas in PDQ-39 were those related to the social area. Around 66.6% of the caregivers reported a mild burden on Zarit and think that SIM enhances the PD patient's QoL. Clinical experts highlighted the sense of community and empathy. CONCLUSION: Our preliminary experience shows a multidisciplinary model with a community approach which redefines the traditional relationship between patients, caregivers, and clinical experts. This aim of this initiative is that education and empowerment patients and caregivers reach a better perception of QoL.

Meisenheimer complexes as hidden intermediates in the aza-SNAr mechanism.

In this work we report a computational study about the aza-SNAr mechanism in fluorine- and chlorine-containing azines with the aim to unravel the physical factors that determine the reactivity patterns in these heterocycles towards propylamine. The nature of the reaction intermediate was analyzed in terms of its electronic structure based on a topological analysis framework in some non-stationary points along the reaction coordinate. The mechanistic dichotomy of a concerted or a stepwise pathway is interpreted in terms of the qualitative Diabatic Model of Intermediate Stabilization (DMIS) approach, providing a general mechanistic picture for the SNAr process involving both activated benzenes and nitrogen-containing heterocycles. With the information collected, a unified vision of the Meisenheimer complexes as transition state, hidden intermediate or real intermediate was proposed.

Acceptability and usability of a mobile application for management and surveillance of vector-borne diseases in Colombia: An implementation study.

BACKGROUND: Vector-borne diseases are a public health problem in Colombia, where dengue virus infection is hyperendemic. The introduction of other arboviruses, such as chikungunya and Zika in the last three years, has aggravated the situation. Mobile health (mHealth) offers new strategies for strengthening health care and surveillance systems promoting the collection, delivery, and access of health information to professionals, researchers, and patients. Assessing mobile application performance has been a challenge in low- and middle-income countries due to the difficulty of implementing these technologies in different clinical settings. In this study, we evaluate the usability and acceptability of a mobile application, FeverDX, as a support tool in the management of patients with febrile syndrome and suspected arboviruses infection by general practitioners from Colombia. METHODS: A pilot implementation study was conducted to evaluate the usability and acceptability of FeverDX using the modified version of the Mobile Application Rating Scale (uMARS). The evaluation form included 25 questions regarding quantity and quality of information, engagement, functionality, aesthetics, impact, and acceptability by healthcare workers. Each item uses a 5-point scale (1-Inadequate, 2-Poor, 3-Acceptable, 4-Good, 5-Excellent). A global score was obtained for the evaluation form test by determining the median scores of each subsection. A descriptive statistical analysis of the data obtained was performed. RESULTS: Between December 2016 and January 2017, a total of 20 general practitioners from the Emergency room and hospitalization areas evaluated FeverDX. Less than half (9/20) of the evaluators had a comprehensive knowledge of the Colombian Ministry of Health's guidelines for the diagnosis and management of arboviruses, and evaluators partially (4/9) or completely (5/9) agreed that the content of the application follows the management guidelines. On uMARS scale, FeverDX excelled regarding impact (median 5; IQR = 5-5), functionality (median 5; IQR = 4.8-5), and information and scientific basis (median 4; IQR = 4-4). FeverDX scored well regarding user feedback (median 4; IQR = 4-4.5), design and aesthetics (median 4; IQR = 4-4.3), and subjective assessment of quality (median 4.5; IQR = 4.3-4.8). CONCLUSIONS: FeverDX, a mobile application, is a novel mHealth strategy to strengthen care processes and facilitate the detection and reporting of notifiable surveillance diseases. It could improve adherence to clinical practice guidelines for the management and prevention of prevalent diseases as arboviruses in healthcare settings. Although this pilot study used a small sample size, FeverDx performed adequately in a simulated emergency consultation. Further implementation studies are needed to increase the reliability of mHealth technologies in different scenarios.

Predicting Deprotonation Sites Using Alchemical Derivatives.

An alchemical transformation is any process, physical or fictitious, that connects two points in the chemical space. A particularly important transformation is the vanishing of a proton, whose energy can be linked to the proton dissociation enthalpy of acids. In this work we assess the reliability of alchemical derivatives in predicting the proton dissociation enthalpy of a diverse series of mono- and polyprotic molecules. Alchemical derivatives perform remarkably well in ranking the proton affinity of all molecules. Additionally, alchemical derivatives could be use also as a predictive tool because their predictions correlate quite well with calculations based on energy differences and experimental values. Although second-order alchemical derivatives underestimate the dissociation enthalpy, the deviation seems to be almost constant. This makes alchemical derivatives extremely accurate to evaluate the difference in proton affinity between two acid sites of polyprotic molecule. Finally, we show that the reason for the underestimation of the dissociation enthalpy is most likely the contribution of higher-order derivatives.

Age Matters: Objective Gait Assessment in Early Parkinson's Disease Using an RGB-D Camera.

BACKGROUND: Gait alterations are hallmarks for the diagnosis and follow-up of patients with Parkinson's disease (PD). In normal conditions, age could affect gait dynamics. Although it is known that objective assessment of gait is a valuable tool for diagnosis and follow-up of patients with PD, only few studies evaluate the effect of aging on the gait pattern of patients with PD. OBJECTIVE: The purpose of this study was to assess differences in gait dynamics between PD patients and healthy subjects and to investigate the effects of aging on these differences using a low-cost RGB-D depth-sensing camera. METHODS: 30 PD patients and 30 age-matched controls were recruited. Descriptive analysis was used for clinical variables, and Spearman's rank correlation was used to correlate age and gait variables. The sample was distributed in age groups; then, Mann-Whitney U test was used for comparison of gait variables between groups. RESULTS: PD patients exhibited prolonged swing (p=0.002) and stance times (p < 0.001) and lower speed values (p < 0.001) compared to controls. This was consistent in all age groups, except for the one between 76 and 88 years old, in which the controls were slower and had longer swing and stance times. These results were statically significant for the group from 60 to 66 years. CONCLUSION: Gait speed, swing, and stance times are useful for differentiating PD patients from controls. Quantitative gait parameters measured by an RGB-D camera can complement clinical assessment of PD patients. The analysis of these spatiotemporal variables should consider the age of the subject.

VECTOS: An Integrated System for Monitoring Risk Factors Associated With Urban Arbovirus Transmission.

In Colombia, as in many Latin American countries, decision making and development of effective strategies for vector control of urban diseases such as dengue, Zika, and chikungunya is challenging for local health authorities. The heterogeneity of transmission in urban areas requires an efficient risk-based allocation of resources to control measures. With the objective of strengthening the capacity of local surveillance systems to identify variables that favor urban arboviral transmission, a multidisciplinary research team collaborated with the local Secretary of Health officials of 3 municipalities in Colombia (Giron, Yopal, and Buga), in the design of an integrated information system called VECTOS from 2015 to 2018. Information and communication technologies were used to develop 2 mobile applications to capture entomological and social information, as well as a web-based system for the collection, geo-referencing, and integrated information analysis using free geospatial software. This system facilitates the capture and analysis of epidemiological information from the Colombian national surveillance system (SIVIGILA), periodic entomological surveys-mosquito larvae and pupae in premises and peridomestic breeding sites-and surveys of knowledge, attitudes, and practices (KAP) in a spatial and temporal context at the neighborhood level. The data collected in VECTOS are mapped and visualized in graphical reports. The system enables real-time monitoring of weekly epidemiological indicators, entomological indices, and social surveys. Additionally, the system enables risk stratification of neighborhoods, using selected epidemiological, entomological, demographic, and environmental variables. This article describes the VECTOS system and the lessons learned during its development and use. The joint analysis of epidemiological and entomological data within a geographic information system in VECTOS gives better insight to the routinely collected data and identifies the heterogeneity of risk factors between neighborhoods. We expect the system to continue to strengthen vector control programs in evidence-based decision making and in the design and enhanced follow-up of vector control strategies.

Developing mobile health applications for neglected tropical disease research.

Mobile applications (apps) can bring health research and its potential downstream benefits closer to underserved populations. Drawing on experience developing an app for detecting and referring cases of cutaneous leishmaniasis in Colombia, called Guaral/app, we review key steps in creating such mobile health (mHealth) tools. These require consideration of the sociotechnical context using methods such as systems analysis and human-centered design (HCD), predicated on engagement and iteration with all stakeholders. We emphasize usability and technical concerns and describe the interdependency of technical and human considerations for mHealth systems in rural communities.

Objective Arm Swing Analysis in Early-Stage Parkinson's Disease Using an RGB-D Camera (Kinect®).

BACKGROUND: Arm swing changes are common even in the early stages of Parkinson's disease (PD). We hypothesized that arm swing changes decrease with age and can be detected using a low-cost, RGB-D depth-sensing camera. OBJECTIVE: This study aimed to assess the differences in arm swing between PD patients and healthy participants and to investigate the possible effects of aging on these differences. METHODS: Twenty-five PD patients (aged 45-87 years) and 25 age-matched, healthy subjects (aged 46-88 years) were included. Clinical variables were evaluated using a descriptive analysis. No spatiotemporal variables were normally distributed; therefore, we used a Mann-Whitney U test to compare the continuous variables between groups and to perform age-stratified analysis. A receiver operating characteristic analysis was generated to evaluate the discrimination activity of arm swing asymmetry (ASA). RESULTS: The PD group showed significant reductions in arm swing magnitude (left, p = 0.002; right, p = 0.006) and arm swing speed (left, p = 0.002; right, p = 0.004) and significantly greater ASA (p < 0.001). The age-stratified analysis showed significant differences in ASA in the 40-59-year group (p = 0.001) and bilateral arm swing magnitude in the 60-66-year group. No differences were found in those aged >67 years. CONCLUSIONS: The camera detected differences in ASA, arm swing speed, and arm swing magnitude between PD patients and healthy individuals. Analysis of arm swing variables should be stratified by age, and the validity of the analysis may be questionable in patients aged >67 years.

Spatiotemporal Gait Variables Using Wavelets for an Objective Analysis of Parkinson Disease.

Parkinson's disease generates a special interest in factors such as gait patterns, posture patterns, and risk of falls. The human gait pattern has a basic unit called the gait cycle, composed of two phases: stance and swing. Using gait analysis it is possible to get spatiotemporal variables as walking speed and step number derived from stance and swing phases. In this paper, we explore the feasibility of wavelet techniques to analyze gait signals, we use a member of Daubechies family to distinguish automatically gait phases, this approach allowed us to estimate spatiotemporal variables that shows significant differences between Parkinson patients and non-Parkinson patients, this result aims to allow clinical experts to easily diagnose and assess Parkinson patients, with short evaluation times and with non-invasive technologies.

Implementación de un programa de angioplastia coronaria ambulatoria en pacientes con riesgo incrementado / Implementation of an Ambulatory Percutaneous Coronary Intervention Program in Higher Risk Patients

RESUMEN: Introducción: La hipercolesterolemia familiar es una hiperlipidemia primaria. Se trata de un trastorno genético autosómico dominante del metabolismo de las lipoproteínas, caracterizado por concentraciones plasmáticas elevadas de colesterol unido a lipoproteínas de baja densidad y presencia de xantomas tendinosos, y está asociado con el desarrollo prematuro de enfermedad cardiovascular. Objetivos: Investigar la presencia de mutaciones en el principal gen asociado al desarrollo de hipercolesterolemia familiar (LDLR) en un grupo de pacientes identificados como "casos índices", de entre aquellos que concurren al Servicio de Lípidos del Hospital Universitario Fundación Favaloro con diagnóstico clínico de hipercolesterolemia familiar. Determinar la composición ancestral de la población estudiada. Material y métodos: Se estudió una población de 38 pacientes con diagnóstico clínico de hipercolesterolemia familiar. La región codificante y las zonas intrónicas adyacentes del gen LDLR se secuenciaron automáticamente por el método de Sanger. Se investigó el componente ancestral de la población estudiada a partir del análisis de 46 marcadores informativos de ancestralidad (AIM-Indel). Resultados: Se identificaron 50 variantes diferentes, de las cuales el 48% se consideraron patogénicas. Se logró establecer una correlación genotipo-gravedad del fenotipo en el 60,5% de los pacientes estudiados. El componente ancestral de la población estudiada fue predominantemente europeo, seguido de un componente nativo-americano y, en menor proporción, africano. Conclusiones: El análisis genético por secuenciación del gen LDLR en pacientes identificados como "casos índices" con diagnóstico clínico de hipercolesterolemia familiar permite correlacionar el dato genético con la gravedad del fenotipo observado clínicamente y efectuar un diagnóstico en cascada en los miembros de la familia que presentan los criterios de inclusión considerados.

ABSTRACT: Background: Familial hypercholesterolemia is a primary hyperlipidemia. It is an autosomal dominant genetic disorder of lipoprotein metabolism, characterized by elevated plasma low-density lipoprotein cholesterol and presence of tendon xanthomas, and is associated with early cardiovascular disease. Objectives: The aim of this study was to investigate the presence of mutations in the main gene associated with the development of familial hypercholesterolemia (LDLR) in a group of patients identified as "index cases" attending the Lipid Clinic of the Hospital Universitario Fundación Favaloro with clinical diagnosis of familial hypercholesterolemia. The ancestral composition of the study population was determined. Methods: We evaluated 38 patients with clinical diagnosis of familial hypercholesterolemia. Mutation screening of the LDLR gene coding regions and adjacent intronic areas was performed using Sanger sequencing. The ancestral component of the study population was investigated using 46 ancestry inference markers (AIM-Indel). Results: Fifty different variants were identified, 48% of which were considered pathogenic. A genotype-phenotype severity correlation was established in 60.5% of the patients evaluated. The ancestral component of the study population was predominantly European, followed by native-American and African in lower proportion. Conclusions: Genetic testing by LDLR gene sequencing in patients identified as "index cases" with clinical diagnosis of familial hypercholesterolemia allows the correlation between the genetic information and the severity of the clinical phenotype to a cascade testing of the family members presenting the inclusion criteria considered.

Sinusitis fúngica alérgica en paciente pediátrico - reporte de un caso / Allergic fungal sinusitis in children - case report / Sinusite fúngica alergica em paciente pediátrico - relato de um caso

La sinusitis micótica alérgica, desde el punto de vista clínico, se distingue por la coexistencia de poliposis nasal y micosis no invasiva. Se presenta con mayor frecuencia en adolescentes o adultos jóvenes inmunocompetentes con antecedentes de atopia, y no existen diferencias significativas en la relación hombre: mujer. La fisiopatología de la sinusitis alérgica micótica es desconocida. El manejo es la cirugía funcional endoscópica. Su objetivo fundamental es extirpar por completo toda la mucina alérgica y el material micótico residual, con el fin de eliminar o reducir el estímulo antigénico. Reportamos este caso, de un paciente pediátrico que presentó sintomatología obstructiva nasal de años de evolución acompañado de asimetría facial, secundario a rinosinusitis fúngica alérgica, requiriendo tratamiento quirúrgico para su resolución.

Clinical allergic fungal sinusitis is distinguished by the coexistence of nasal polyposis and non-invasive mycosis. It occurs more frequently in immunocompetent adolescents or young adults with a history of atopy, and there are no significant differences in the male: female relationship. The pathophysiology of fungal allergic sinusitis is unknown. Management is endoscopic functional surgery. Its primary goal is to completely remove all of the allergic mucin and residual mycotic material, in order to eliminate or reduce the antigenic stimulus. We report this case of a pediatric patient who presented nasal obstructive symptomatology of years of evolution accompanied by facial asymmetry, secondary to allergic fungal rhinosinusitis, requiring surgical treatment for resolution.

A sinusite fúngica alérgica clínica se distingue pela coexistência de polipose nasal e micoses não invasivas. Ela ocorre mais freqüentemente em adolescentes imunocompetentes ou adultos jovens com história de atopia, e não existem diferenças significativas na relação masculino: feminino. A fisiopatologia da sinusite fúngica alérgica é desconhecida. Manipulação é a cirurgia endoscópica funcional. Seu principal objetivo é remover completamente toda a mucina alérgica residual e materiais micó- tica, a fim de eliminar ou reduzir o estímulo antigênico. Relatamos ou evento uma paciente pediátrico tinha sintomas nasais anos obstrução de evolução, faciais cascas acompanhadas assimetria secundária a rinossinusite fúngica alérgica, necessitando de tratamento de ferramentas cirúrgicas para resolução.