RESUMO

Mutations in the lecithin-cholesterol acyltransferase (LCAT) gene, which catalyzes the esterification of cholesterol, result in two types of autosomal recessive disorders: Familial LCAT deficiency (FLD) and Fish Eye Disease (FED). While both phenotypes are characterized by corneal opacities and different forms of dyslipidemia, such as low levels of high-density lipoprotein-cholesterol (HDL-C), FLD exhibits more severe clinical manifestations like splenomegaly, anemia, and renal failure. We describe the first clinically and genetically confirmed case of FLD in Colombia which corresponds to a 46-year-old woman with corneal opacity, hypothyroidism, and dyslipidemia, who does not have any manifestations of renal failure, with two pathogenic heterozygous missense variants in the LCAT gene: LCAT (NM_000229.2):c.803G>A (p.Arg268His) and LCAT (NM_000229.2):c.368G>C (p.Arg123Pro). In silico analysis of the mutations predicted the physicochemical properties of the mutated protein, causing instability and potentially decreased LCAT function. These compound mutations highlight the clinical heterogeneity of the phenotypes associated with LCAT gene mutations.

RESUMO

The Covid-19 pandemic challenges healthcare systems worldwide while severely impacting mental health. As a result, the rising demand for psychological assistance during crisis times requires early and effective intervention. This contributes to the well-being of the public and front-line workers and prevents mental health disorders. Many countries are offering diverse and accessible services of tele-psychological intervention; Ecuador is not the exception. The present study combines statistical analyses and discrete optimization techniques to solve the problem of assigning patients to therapists for crisis intervention with a single tele-psychotherapy session. The statistical analyses showed that professionals and healthcare workers in contact with Covid-19 patients or with a confirmed diagnosis had a significant relationship with suicide risk, sadness, experiential avoidance, and perception of severity. Moreover, some Covid-19-related variables were found to be predictors of sadness and suicide risk as unveiled via path analysis. This allowed categorizing patients according to their screening and grouping therapists according to their qualifications. With this stratification, a multi-periodic optimization model and a heuristic are proposed to find an adequate assignment of patients to therapists over time. The integer programming model was validated with real-world data, and its results were applied in a volunteer program in Ecuador.

Assuntos

RESUMO

Resumen Objetivo: Describir resultados en términos de morbilidad y mortalidad de la colecistectomía extendida laparoscópica (CELap) en pacientes con cáncer de vesícula biliar (CVB) incidental. Materiales y Método Serie de casos de pacientes con CVB incidental sometidos a CELap en el Hospital Regional de Temuco entre diciembre de 2017 y marzo de 2019. Resultados: Incluimos 10 pacientes, con edad promedio de 59,2 ± 11 años, 90% de género femenino. Respecto a la invasión de pared de la vesícula biliar (TNM), 1 presentó invasión hasta mucosa (T1a) con invasión de senos de Rokitansky Aschoff y 9 hasta subserosa (T2). Dos tuvieron ganglio cístico positivo en biopsia inicial. Respecto a la CELap, el tiempo operatorio promedio fue 333 ± 40 minutos. El promedio de ganglios resecados fue 4 ± 2,78, presentando lecho hepático positivo en 1 paciente. La clasificación TNM obtenida: un paciente T1aN0M0, siete T2N0M0 y dos T2N1M0. La estancia hospitalaria promedio fue 5 ± 2,3 días. Siete pacientes recibieron, posteriormente, quimioterapia con gemcitabina + cisplatino. Hubo morbilidad en 2 pacientes, tipo I de Dindo-Clavien. No reportamos mortalidad. El seguimiento promedio fue 7,1 ±5,1 meses, no reportamos recurrencia. Discusión: Esta serie presenta menor número de ganglios resecados que otros estudios (posiblemente por ser nuestra serie inicial) y mayor morbilidad, pero sólo tipo I de Dindo-Clavien. Presentamos una estancia hospitalaria similar a series internacionales y menor presencia de metástasis según reportan análisis retrospectivos. Conclusión: La CELap es una opción terapéutica aceptable y presenta cifras de morbilidad y mortalidad comparables con series nacionales e internacionales.

Aim: Describe results in terms of morbidity and mortality of minimally invasive treatment in patients with gallbladder cancer until subserosal layer. Materials and Method: Case series of patients with gallbladder cancer undergoing CELap at Hospital Regional of Temuco between December 2017 and March 2019. Results: Ten patients were included, the average age was 59,2 ±11 years. Ninety percent female. According to the invasion in gallbladder layers (TNM Classification), 1 patient was T1a (mucosa) with invasion of Rokytansky-Aschoff sinus and 9 patients T2 (subserosa). Two patients had a positive cystic node. The average operating time of CELap was 333 ± 40 minutes. The average number of resected nodes was 4 ± 2,78 and a positive liver bed was found in 1 patient. The TNM classification was 1 patient T1aN0M0, 7 patients T2N0M0 and 2 patients T2N1M0. Mean hospitalization was 5 ± 2,3 days. Seven patients subsequently received chemotherapy with gemcitabine + cisplatin. There was 2 patients with morbidity, type I of Dindo-Clavien scale. No mortality is reported. The average follow-up was 7,1 ±5,11 months and no recurrence was reported. Discussion: This series has a lower number of resected nodes than other studies (possibly because it is our initial series) and higer morbidity, but only Dindo-Clavien type I. Furthermore, we present a hospital stay similar to international series and a lower presence of metastases as reported in retrospective analysis. Conclusion: CELap is an acceptable therapeutic option and presents morbidity and mortality comparable with the national and international series.

Assuntos

RESUMO

Resumen Introducción: La pancreatitis aguda es una enfermedad frecuente en el país, con una tasa de mortalidad de 10%-30%. La administración profiláctica de antibióticos ha sido parte del tratamiento de pancreatitis aguda grave (PAG), por la teórica prevención de complicaciones infecciosas y reducción de mortalidad. Sin embargo, la evidencia científica disponible es controversial. Objetivo: Demostrar que los antibióticos profilácticos no disminuyen las complicaciones locales y/o sistémicas, requerimiento de Unidad de Paciente Crítico (UPC), ni mortalidad en PAG. Definimos PAG como APACHE II ≥ 8 o PCR ≥ 150 o falla multiorgánica. Material y Método: Ensayo clínico aleatorizado, con aleatorización simple mediante tabla electrónica (uso o no uso de antibióticos profilácticos) de pacientes con PAG. En el grupo que usó antibióticos profilácticos se utilizó ciprofloxacino y metronidazol por 7 días. El resto del manejo no tuvo variación. Resultados: n = 71, dos grupos aleatorizados; Grupo 1 (n = 35), sin uso de antibióticos profilácticos, y grupo 2 (n = 36) con uso de profilaxis antibiótica. 12 pacientes (16%) requirieron UPC; 6 pacientes del grupo 1, y 6 del grupo 2 (p = 0,957). Siete pacientes (9,8%) tuvieron algún tipo de complicación, 3 en el grupo 1 y 4 en el grupo 2 (p = 0,516). El promedio de estancia hospitalaria fue 18,2 ± 9,5 días en el grupo 1, y 22,6 ± 29.2 días en el grupo 2 (p = 0,495). Mortalidad: 1 paciente (1,41%) en el grupo 2 (p = 0,493). Conclusión: En este reporte preliminar, el uso de antibióticos profilácticos en PAG no mostró reducir las complicaciones, necesidad de cama en UPC, ni la mortalidad.

Introduction: Acute pancreatitis is a common disease in the country, with a mortality rate of 10%-30%. The prophylactic administration of antibiotics has been part of the treatment of severe acute pancreatitis (SAP), due to the theoretical prevention of infectious complications and mortality reduction. However, the available scientific evidence is controversial. Objective: To demonstrate that prophylactic antibiotics do not reduce local and/or systemic complications, critical patient unit (CPU) requirement, or mortality in SAP. We define SAP as APACHE II ≥ 8 or PCR ≥ 150° or multiorgan failure. Material and Method: Randomized clinical trial, with simple randomization by electronic table (use or non-use of prophylactic antibiotics) of patients with SAP. In the group that used prophylactic antibiotics, ciprofloxacin and metronidazole were used for 7 days. Results: n = 71, two randomized groups; Group 1 (n = 35), without the use of prophylactic antibiotics, and group 2 (n = 36) with the use of antibiotic prophylaxis. 12 patients (16%) required CPU; 6 patients from group 1, and 6 from group 2 (p = 0.957). Seven patients (9.8%) had some type of complication, 3 in group 1 and 4 in group 2 (p = 0.516). The average hospital stay was 18.2 ± 9.5 days in group 1, and 22.6 ± 29.2 days in group 2 (p = 0.495). Mortality: 1 patient (1.41%) in group 2 (p = 0.493). Conclusion: In this preliminary report, the use of prophylactic antibiotics in SAP was not shown to reduce complications, need for bed in CPU, or mortality.

Assuntos

Assuntos

Assuntos

Assuntos

Assuntos

RESUMO

Introduction: Implementation of teledermatology in primary care offers the possibility of treating patients using specific dermatologic knowledge in far away places with infrequent availability to these services. It is a priority to implement teledermatology services which demonstrate diagnostic reliability and satisfaction among users. bjectives and methods: To measure the diagnostic reliability of an asynchronous teledermatology web based application by means of intraobserver and interobserver concordance during teleconsultation and traditional presential ("face to face") consultation. Furthermore, to evaluate user satisfaction regarding the teleconsultation and the web application. Results: A sample of 82 patients with 172 dermatologic diagnoses was obtained, in which an intraobserver concordance between 80.8% and 86.6%, and an interobserver concordance between 77.3% and 79.6% were found. Satisfaction was evaluated to be on an average of 92.5%. Conclusions: The teleconsultation reliability in teledermatology is evidenced to be high, and is susceptible of improvement through the implementation of health information standards and digital dermatologic photography protocols.

Introducción: La implementación de la teledermatología en el cuidado primario ofrece la posibilidad de tratar pacientes utilizando conocimiento dermatológico específico desde lugares remotos que no poseen estos servicios con frecuencia. Es prioritario implementar servicios de teledermatología que demuestran fiabilidad diagnóstica y satisfacción entre todos los usuarios. Objetivo y métodos: Medir la fiabilidad diagnóstica de una aplicación web de tele-dermatología asíncrona a través de la concordancia intra-observador e inter-observador, durante la tele-consulta y la consulta presencial. Además, evaluar la satisfacción de los usuarios con respecto a la tele-consulta y aplicación Web. Resultados: Se obtuvo una muestra de 82 pacientes con 172 diagnósticos dermatológicos, donde se presentó una concordancia intra-observador entre 80.8% y 86.6%, por su lado la concordancia inter-observador varió entre 77.3% y 79.6%. La satisfacción alcanzó un promedio de 92.5%.Conclusiones: Se evidencia que la fiabilidad de la tele-consulta en tele-dermatología es alta, susceptible de mejorar a través de la implementación de estándares de información en salud y protocolos de fotografía dermatológica digital.

Assuntos