First Case In Colombia Research Articles

A novel CACNA1A variant causing Developmental and Epileptic Encephalopathy 42: Report of the first case in Colombia (P3-1.010)

<h3>Objective:</h3> To report a CACNA1A Novel variant causing Developmental and Epileptic Encephalopathy 42. <h3>Background:</h3> CACNA1A encodes the α1A subunit (pore-forming subunit) of a neuronal P/Q type calcium channel. Mutations within this gene lead to clinically significant neurological abnormalities with multiple phenotypic presentations, including Familial Hemiplegic Migraine (FHM), episodic ataxia type 2 (EA2), spinocerebellar ataxia type 6 (SCA6), and Developmental and Epileptic Encephalopathy 42 (DEE42). DEE42 is a disorder characterized by the developmental delay with cognitive impairment and multiple types of seizures in the neonatal period. <h3>Design/Methods:</h3> A karyotype was performed using peripheral blood lymphocytes. A Microarray-based Comparative Genomic Hybridization (aCGH) using CytoScan 750K Array (Affymetrix, Santa Clara, CA, USA) and whole exome sequencing (WES). <h3>Results:</h3> Our patient is a female born to non-consanguineous parents with a family history of speech and psychomotor developmental delay in her mother. She was born at term with uneventful antenatal and perinatal history. At 12 months, she presented to the Neurology and Genetics department with macrocephaly, frontal bossing, severe hypotonia, psychomotor delay, and repeated episodes of seizures requiring therapy with valproic acid and levetiracetam. EEG evidenced generalized spike waves. Her course was complicated by a traumatic brain injury that precipitated repeated episodes of status epilepticus. At 28 months old, she had cognitive and communication deficits with severe speech delay. The aCGH showed a 4q21.21 deletion. The final result was given as 46, XX arr[GRCh37/hg19] chr4:79766081-80327420. In this study, we describe a patient with DEE42 due to a novel mutation in CACNA1A identified using WES. WES revealed a novel heterozygous variant in the CACNA1A gene: c.4174G&gt;A (p.Val1392Met). Parent analysis was negative for the mutation. This novel variant was predicted as a disease-causing mutation. <h3>Conclusions:</h3> These findings widen the mutation and phenotypic spectrum of CACNA1A-associated disease. The potential genotype-phenotype correlation would facilitate early identification and help guide future pharmacologic treatment research. <b>Disclosure:</b> Dr. Orellana Zambrano has nothing to disclose. Dr. Candelo has nothing to disclose. Mrs. Diaz has nothing to disclose. Dr. Pacheco has nothing to disclose. Mr. Giraldo-Ocampo has nothing to disclose. Dr. Gomez-Pineda has nothing to disclose. Dr. Pachajoa has nothing to disclose.

Burden Disease of COVID-19: Disability-Adjusted Life Years (DALYs) in Bogota, Colombia

Background: Disability-adjusted life years (DALYs) are a synthetic health indicator used to measure the burden of disease at the population level, which provides joint information on the fatal and non-fatal consequences of diseases, injuries and risk factors. This indicator as the number of years of healthy life lost uses both to describe the epidemiological situation in different countries or regions and to estimate the population impact of different interventions. The World Health Organization as a public health emergency of international importance (ESPII) classified the new coronavirus (COVID-19). In December 2019, an association of pneumonia cases emerged in Wuhan (Hubei province, China), with a sample common to a wholesale market for seafood, fish, and live animals. On January 7, 2020, the Chinese authorities established a new virus of the Corona viridae family as the agent promoting the outbreak, which was later designated SARS-COV-2 1. The Chinese authorities shared the genetic sequence on January 12. The disease caused by this new virus by international consensus COVID-19. The Emergency Committee of the International Health Regulations (IHR, 2005) declared the outbreak as a PHEIC at its meeting on January 30, 2020. Subsequently, the WHO considered it a global pandemic on March 11, 2020 ISCIII. Cases on all continents and on March 6 the first case in Colombia and the National Institute of Health (INS) notifies the Ministry of Health daily of the figures of accumulated confirmed cases of COVID-19, as follows: total of cases, cases in hospitalizations, ICU admissions, deaths and recovered cases. The objective of this work was to estimate the burden of disease due to COVID-19 in Bogotá for the years 2020 and 2021 in order to establish the burden of disease due to this pathology. Methods: We conducted an ecological study between Jan 1, 2020, and Dec 31, 2021. We used final prevalence estimates and disability weights to estimate years lived with disability and disability-adjusted life-years (DALYs) for COVID-19 in Bogotá. Findings: The public data on COVID 19 published on the Salud-data website of the Bogotá Health Center, available at https:// saludata.saludcapital.gov.co/osb/. A total of 13,428 deaths and 482,346 laboratory-confirmed cases of COVID 19 in the study period. The discount rate that evaluates what benefits they prefer in the present and not in the future into account, so it is necessary to introduce this correction factor for future benefits, which is a procedure commonly used in economics. This same situation occurs in health, because the value given to a year of healthy life gained in the present is different and superior to that given to a year of healthy life gained in the future. The discount weight into account in the calculation as a correction since societies tend to value a year of life lost or gained differently during young adulthood than during early childhood or old age. This discount model allows the time lived at different ages to be valued using an exponential function. The burden of disease is the gap between existing health conditions and an ideal health situation. Life expectancy to calculate based on the assumption that someone is currently living and in the future to current mortality rates for each age group (42). In this case, the life table with the highest life expectancy at birth in the world used, which is that of Japan, with 80 years for men and 82.5 years for women, in addition to allowing us to compare ourselves with studies that use this value (43). This pandemic has created a greater urgency to strengthen health systems in most countries and the burden of disease must know in order to know the possible economic impact. Interpretation: This pandemic has created an increased urgency to strengthen health systems in most countries. Taking no action to address the burden of COVID-19 should not be an option.

A ten-year follow-up of retinoblastoma in an adult: first case in Colombia

RESUMO Retinoblastoma e a neoplasia intraocular maligna mais comum da retina na infância, com alta incidencia nos primeiros dois anos de vida. Descrevemos o primeiro caso na Colombia, de retinoblastoma unilateral em uma paciente de 57 anos, que veio a consulta com glaucoma neovascular avancado. Ao exame, apresentava uma massa intraocular amelanotica esquerda, e precisou ser enucleada. O diagnostico foi confirmado por histopatologia e marcadores tumorais especificos. Foi realizado seguimento por 10 anos, com ressonância magnetica, sem achados de bilateralidade [...]

An unexpected pathogen causing multiple intra-abdominal abscesses in an immunocompetent patient

Streptococcus constellatus is a member of the group now called Streptococcus anginosus. This microorganism is part of the normal oropharyngeal, gastrointestinal and genitourinary microbiota. However, it may cause serious infections such as pharyngitis, bacteremia and invasive pyogenic infections in immunocompromised patients. We report the first case in Colombia of an adult male with no relevant medical history and with an unusual presentation of infection by S. constellatus and whose laboratory results showed an important systemic inflammatory response and radiographic evidence of abdominal involvement with poor response to medical and surgical management. Since there are few reports in international medical journals about intra-abdominal infection by S. constellatus and taking into consideration the need of a multidisciplinary intervention, this report may be of interest for both clinical and surgical practitioners.

Endoscopic ultrasonography-guided cholecystogastrostomy in a patient with pancreatic cancer: the first case in Colombia (with video)

The current treatment of malignant biliary obstruction is non-surgical biliary diversion with palliative intent, the surgery having specific indications in patients with malignant pathology with curative intent. However, duodenal obstruction and non-dilated intra- or extrahepatic bile duct make these surgical and endoscopic procedures guided by EUS difficult.&#x0D; We present our experience with the first case in Colombia a third-world country in Latin America of a cholecystogastrostomy guided by EUS in a patient with unresectable pancreatic cancer and duodenal invasion with dilated common bile duct using a luminal stent (LAMS) (HOT stent AXIOS; Xlumena Inc., Mountain View, CA, USA) 15mm x 10mm.EUS-guided cholecystogastrostomy should be considered as an option for biliary decompression of greater importance than percutaneous drainage since it is superior in terms of technical feasibility, safety and efficacy in specific cases of ampullary stenosis and duodenal invasion. In addition, it can be done in third world countries when it has the appropriate training and implements. The fully covered metal stent applied to light (HOT AXIOS stent, Xlumena Inc., Mountain View, CA, USA) is ideal for EUS guided cholecystogastrostomy to minimize complications such as bile leakage. Additional comparative studies are needed to validate the benefits of this technique.

Estimación de la prevalencia del COVID-19 en Colombia

Introducción: el nuevo Coronavirus (COVID-19) ha sido clasificado por la Organización Mundial de la Salud como una emergencia en salud pública de importancia internacional (ESPII). Se han reconocido casos en todos los continentes y el 6 de marzo se confirmó el primer caso en Colombia. Objetivo: estimar la medida de frecuencia de prevalencia en los departamentos de Colombia para COVID-19. Metodología: para desarrollar la investigación se utilizó la base de datos de las personas contagiadas por el COVID-19, la información de los datos corresponde al período acumulado a 31 de agosto 2020 para los departamentos de Colombia. Resultados: se estimó que a 31 de agosto 2020, la prevalencia para cada una de los departamentos de Colombia, se detalla que con mayor prevalencia de casos positivos por COVID-19, estuvieron: Amazonas 3,41%, Bogotá 2,72%, Atlántico 2,35%, Caquetá 1,47%, y Sucre 1,22%; y en los departamentos con menor proporción: Vichada 0,00%, Quindío 10,23%, Casanare 0,24%, Guainía 0,27%, y Córdoba y Caldas 0,29%. Conclusiones: se ha observado en lo corrido de 2020 un aumento paulatino de contagios por COVID-19 en Colombia hasta llegar a registrar a 31 de agosto 2020, 615.168 casos positivos. La tendencia probablemente seguirá aumentando hasta que no se encuentre una solución definitiva a la pandemia propiciada por el COVID-19.&#x0D;

Estudio comparativo entre el contagio durante la cuarentena obligada por el COVID-19 y el contagio durante la apertura gradual y controlada para algunos sectores de la economía en Colombia

Introducción: el nuevo coronavirus COVID-19 ha sido clasificado por la Organización Mundial de la Salud como una emergencia en salud pública de importancia internacional (ESPII). Se han reconocido casos en todos los continentes y el 6 de marzo se confirmó el primero en Colombia. La infección se evidencia cuando una persona enferma tose o estornuda y expulsa partículas del virus que entran en contacto con otras personas. Objetivo: presentar un estudio comparativo entre el promedio de contagio durante la cuarentena obligada por el COVID-19 y el promedio de contagio durante la apertura gradual y controlada para algunos sectores de la economía. Materiales y métodos: se utilizó la base de datos de las personas infectadas por el COVID-19 con la información correspondiente al período 25 de marzo 2020 a 26 de abril 2020 de cuarentena obligada entre 27 de abril a 29 de mayo 2020 con la apertura gradual y controlada para algunos sectores de la economía. En su análisis se utilizó la prueba t-student para muestras independientes, utilizando el paquete estadístico SPSS v.25. Resultados: se presentó mayor contagio de personas por COVID-19 con la apertura global y sistemática de varios sectores de la economía; a partir del análisis estadístico de los datos aplicando la prueba t-student se pudo observar que hay evidencia para rechazar la hipótesis nula; por consiguiente, las medias son diferentes. Conclusiones: la estrategia a seguir es sostener el aislamiento preventivo obligatorio para los grupos específicos y la cuarenta en toda la población.

Histoplasmosis laríngea: reporte de primer caso en Colombia

Señor Editor.En relación con el artículo “Histoplasmosis laríngea: reporte de primer caso en Colombia” publicado por Moriones et al. Colomb Med (Cali). 2014; 45(4):186-91, deseo realizar los siguientes comentarios:La histoplasmosis es una micosis sistémica frecuente en Colombia y debido a que no es de notificación obligatoria, se diseñó una encuesta nacional para conocer aspectos de la enfermedad que permitió recolectar información de los casos diagnosticados. Hasta el año 2008 se habían analizado 434 encuestas de pacientes provenientes de 20 departamentos, la mayoría de Antioquia, seguido del Valle y Cundinamarca. Por lo tanto, estos resultados no están indicando que la histoplasmosis sea más frecuentemente diagnosticada en estos departamentos como lo expresan los autores, tal vez fueron los que más informaron ya que es un reporte voluntario. La histoplasmosis es causada por el hongo dimórfico Histoplasma capsulatum que presenta dos variedades patógenas para el ser humano, H. capsulatum var. capsulatum e H. capsulatum var. duboisii2, el cual no se adquiere por la inhalación de micelios como es manifestado en el artículo, las estructuras infectantes corresponden a fragmentos de hifas y principalmente las microconidias (2-4 mm) que llegan a los bronquiolos y alveolos pulmonares3. Es importante aclarar que el concepto de micelio corresponde a masa de hifas, por lo tanto, no es correcto sugerir que esta estructura es la responsable de la infección. Posteriormente, las microconidias se transforman en levaduras y debido a la alta actividad fagocitaria de los macrófagos alveolares son fagocitadas y dentro de ellos se multiplican, llevando a veces a la destrucción del fagocito y a la infección de nuevas células4. Luego, el macrófago cargado con el microorganismo es responsable de la diseminación de las blastoconidias a órganos ricos en fagocitos mononucleares. Esto último no corresponde a afirmar que los macrófagos infectados son estimulados a multiplicarse después de la infección como es presentado en el artículo.

Total intravenous anesthesia in a closed loop system: Report of the first case in Colombia

Total intravenous anesthesia is a widely used technique that relies on the use of intravenous anesthetics, propofol being the most frequently used and studied. At present, there are pharmaceutical and pharmacokinetic tools that are used to generate mathematical models to ensure the safe and moderately effective use of this technique. However, the depth of anesthesia is determined purely on the clinical findings and this requires neurological monitoring such as the bi-spectral index (BIS) in order to correlate the data derived from the pharmacokinetic models used for the administration of the anesthetic with the determination of its desired clinical effect.We designed an operating system for automated control of the propofol infusion that provides feedback on the basis of the data generated by the BIS monitor. The system is programmed to increase or decrease the propofol infusion within a specific BIS range and, consequently, in accordance with the needs of the individual patient.We describe anesthetic management using this technique in a female patient taken to surgery for prosthetic mammary implantation under general anesthesia at the University Hospital. An intraoperative record was generated including the depth of anesthesia and its action on propofol concentration at the effective site using the automated administration and control system.We concluded that the use of closed-loop total intravenous anesthesia under neurologic monitoring is the next step in the evolution of this technique. It is less reliant on the pharmacokinetic models available at present, and is better suited to adapt to the specific needs of individual patients and to the type of surgical intervention.

Total intravenous anesthesia in a closed loop system: Report of the first case in Colombia☆

Total intravenous anesthesia in a closed loop system: Report of the first case in Colombia☆

First Identification of OXA-72 Carbapenemase from Acinetobacter pittii in Colombia

OXA-72 has been reported in few countries around the world. We report the first case in Colombia in an Acinetobacter pittii clinical isolate. The arrival of a new OXA, into a country with high endemic resistance, poses a significant threat, especially because the potential for widespread dissemination is considerable.

Report of the first case of myxoid liposarcoma in Colombia: a rare tumor

Introduction: Primary esophageal myxoid liposarcoma is exceedingly rare. Sarcomas make up 1% of esophageal malignant tumors. There are only five (5) cases reported with this histological variant (myxoid) in previous literature. In Colombia, this is the first case reported and the sixth in the world. Objective: To report the first case in Colombia of myxoid liposarcoma of the esophagus with clinical, radiographic images, histology, surgical and to describe difficulties in the diagnosis. Methodology: We reviewed the clinical history of a 28-year old male patient. He was admitted to Hospital Universitario del Valle in Cali, Colombia with a clinical history of dysphagia, weight loss, and excessive salivation. The initial examination (esophagogram, cervical CAT scan and endoscopy) demonstrated a mass that was reported as a fibrovascular polyp. The finding of the pathological diagnosis was myxoid liposarcoma. Conclusions: The rarity of this condition recommends report of its detailed description. The myxoid liposarcoma of the esophagus can be diagnosed if a patient has a history of a slow-growing esophageal mass with a low tumor density in computed tomography in combination with surgical resection and histological examination.

Chagasic megacolon associated with Trypanosoma cruzi I in a Colombian patient

Chagasic megacolon has been reported in the southern cone countries of South America and is mainly associated with Trypanosoma cruzi II infection. Herein, we report the first case in Colombia of chagasic megacolon with cardiomyopathy associated with the T. cruzi I lineage. This finding suggests that in Colombia, as well as in other northern countries of South America and throughout Central America, where T. cruzi I is endemic, cardiomyopathy may not be the only clinical form of Chagas disease.

Osteólisis multicéntrica idiopática de tipo III: presentación de un caso clínico y caracterización del síndrome

Presentamos el primer reporte de caso en Colombia de un paciente con osteólisis multicéntrica idiopática con compromiso de carpo y tarso y nefropatía. Se exponen, de manera clara y bien documentada, el cuadro clínico y paraclínico actual y la evolución del paciente, junto a una breve y completa revisión de esta enfermedad, rara, progresiva, degenerativa e incapacitante.

Nefropatía no amiloidea por depósito de inmunoglobulinas monoclonales A propósito de un caso de enfermedad idiopática por depósito de cadenas ligeras

The nephropathy of monoclonal gammopathies is principally caused by light chain deposits of fragmented immunoglobins. Paraprotein-related renal diseases are associated with such deposits of intact (heavy chain) or fragmentary (light chain) immunoglobins. A condition of pathological light chain deposits is rare and characterized by deposits of fragments of monoclonal immunoglobulins in many organs. Renal deposits occur primarily in glomeruli and tubular basement membranes. This disease is frequently associated with lymphoproliferative disorders. The majority of cases are caused by deposits of kappa light chains. Whereas this disease is most frequently associated with hematologic malignancies, occasionally a case occurs without detectable hematological pathologies; these cases are called idiopathic or primary. They usually manifest themselves as severe renal insufficiencies with nephrotic-range proteinuria. No treatment regime has been clearly established and the prognosis is poor. Herein, the clinical and histological characteristics are described regarding the first case in Colombia of light chain deposit disease without symptoms of malignancy.