Background:DICER1 alterations are associated with intracranial tumors in the pediatric population, including pineoblastoma, pituitary blastoma, and the recently described "primary DICER1-associated CNS sarcoma" (DCS). DCS is an extremely aggressive tumor with a distinct methylation signature and a high frequency of co-occurring mutations. However, little is known about its treatment approach and the genomic changes occurring after exposure to chemoradiotherapy.Methods:We collected clinical, histological, and molecular data from eight young adults with DCS. Genomic analysis was performed by Next-generation Sequencing (NGS). Subsequently, an additional germline variants analysis was completed. In addition, an NGS analysis on post-progression tumor tissue or liquid biopsy was performed when available. Multiple clinicopathological characteristics, treatment variables, and survival outcomes were assessed.Results:Median age was 20 years. Most lesions were supratentorial. Histology was classified as fusiform cell sarcomas (50%), undifferentiated (unclassified) sarcoma (37.5%), and chondrosarcoma (12.5%). Germline pathogenic DICER1 variants were present in two patients, 75% of cases had more than one somatic alteration in DICER1, and the most frequent commutation was TP53. Seven patients were treated with surgery, Ifosfamide, Cisplatin, and Etoposide (ICE) chemotherapy and radiotherapy. The objective response was 75%, and the median time to progression (TTP) was 14.5 months. At progression, the most common mutations were in KRAS and NF1. Overall survival was 30.8 months.Conclusions:DCS is an aggressive tumor with limited therapeutic options that requires a comprehensive diagnostic approach, including molecular characterization. Most cases had mutations in TP53, NF1, and PTEN, and most alterations at progression were related to MAPK, RAS and PI3K signaling pathways.

Next-generation medicine encompasses different concepts related to healthcare models and technological developments. In Latin America and the Caribbean, healthcare systems are quite different between countries, and cancer control is known to be insufficient and inefficient considering socioeconomically discrepancies. Despite advancements in knowledge about the biology of different oncological diseases, the disease remains a challenge in terms of diagnosis, treatment, and prognosis for clinicians and researchers. With the development of molecular biology, better diagnosis methods, and therapeutic tools in the last years, artificial intelligence (AI) has become important, because it could improve different clinical scenarios: predicting clinically relevant parameters, cancer diagnosis, cancer research, and accelerating the growth of personalized medicine. The incorporation of AI represents an important challenge in terms of diagnosis, treatment, and prognosis for clinicians and researchers in cancer care. Therefore, some studies about AI in Latin America and the Caribbean are being conducted with the aim to improve the performance of AI in those countries. This review introduces AI in cancer care in Latin America and the Caribbean, and the advantages and promising results that it has shown in this socio-demographic context.

Primary sarcomas of the breast are heterogeneous neoplasms derived from the non-epithelial elements of the mammary gland. Malignant peripheral nerve sheath tumors comprise 5–10% of all malignant soft tissue sarcomas. Its heterogeneity and low incidence (1 in 100,000) limit the performance of prospective studies. Therefore, most published articles include individual reports and case series with a small number of patients, making it impossible to determine clear treatment standards in this scenario. A 36-year-old young woman with no personal history consulted the National Cancer Institute of Colombia with a 1-year progression of a rapidly growing mass in her left breast until reaching an approximate tumor size of 20 × 20 cm. Histopathological analysis with a tru-cut biopsy taken from the lesion revealed the presence of a breast sarcoma with positive staining for SOX-10 and S-100. A radical mastectomy as her first treatment included the resection of a costal arch and, therefore, the reconstruction of the chest wall with coverage of the defect with an extended latissimus dorsi flap followed by consolidation therapy with adjuvant radiotherapy (RT) and chemotherapy. Evidence regarding malignant peripheral nerve sheath sarcoma of the breast treatment corresponds to retrospective analyses and case reports with high heterogeneity and variability about strategies in surgical procedures and adjunctive therapy such as complementary chemotherapy and RT; therapeutic approach should always include a multidisciplinary team.

Background Cutaneous myiasis in patients with malignant wounds or skin cancer is a rare and undesirable event with limited epidemiological data. A subregister of reports, lack of education in the population, inadequate empirical treatments, and medical underestimation are components of a public health problem that threatens patients' lives. Methods We conducted a systematic review of the literature of cutaneous myiasis associated with malignant wounds and skin cancer, characterizing sociodemographic variables, risk factors, clinical and histological features, and treatment. Additionally, we present a demonstrative case with the adequate taxonomic evaluation. Discussion Cutaneous myiasis is an underestimated and poorly managed infestation, which can generate severe complications in oncological patients. This is the first systematic review in the literature about this clinical scenario, which provides information to the physician and clinical researcher about the epidemiological gaps and what has been published so far. Conclusions Findings from the current review have helped to display the sociodemographic, epidemiological, and clinical behavior of myiasis in skin cancer and malignant wounds. Its contribution to the greater tumor tissue destruction is clear; however, more studies are required. The therapeutic management in these patients is equally clarified.

En Colombia el consumo de sustancias ilícitas incrementa a diario. Este aumento del consumo en la población involucra tanto a jóvenes menores de 16 años como a adultos jóvenes. Por lo anterior, se presentan complicaciones asociadas al consumo de estas sustancias que de otra manera, serían inusuales de encontrar en este grupo poblacional. En este reporte de caso, se revisará como el uso de cocaína llevo a un paciente joven al desarrollo de daño renal agudo con requerimiento de terapia de reemplazo renal, que en sus hallazgos histológicos puede corresponder a una glomerulonefritis rápidamente progresiva, o a enfermedad tubulointersticial: necrosis tubular aguda (NTA) o nefritis intersticial aguda (NIA). Palabras clave: Drogas ilícitas, Falla renal aguda, Necrosis tubular aguda.

There is a general lack of published studies on the risk of mortality due to alterations in the safety of swallowing detected during the fiberoptic endoscopic evaluation of swallowing (FEES). We aimed at assessing the risk of mortality of the detection of aspiration, penetration, and pharyngeal residues by FEES. A cohort of consecutively evaluated patients suspected of experiencing oropharyngeal dysphagia undergoing FEES at a tertiary care university hospital were prospectively followed up on to assess mortality. The FEES findings, comorbidities, and potential confounders were studied as predictors of death using a Cox multivariate regression analysis. A total of 148 patients were included, 85 of whom were male (57.4%). The mean age (± standard deviation) was 52.7 years (± 22.1). The median of the follow-up time was 4.5 years. The most frequent conditions were stroke in 50 patients (33.8%), brain and spine traumas in 27 (18.2%), and neurodegenerative diseases in 19 (12.8%). Variables associated with mortality in bivariate analyses were age > 65 years (p < 0.001), pneumonia (p = 0.046), aspiration of any consistency (p < 0.001), and pharyngeal residues (p = 0.017). Variables independently associated with mortality in the Cox multivariate model were age (> 65 years) [adjusted hazard ratio (HR) 5.76; 95% CI 2.72 to 17.19; p = 0.001] and aspiration (adjusted HR: 3.96; 95% CI 1.82 to 14.64; p = 0.003). Aspiration detected by FEES and an age > 65 years are independent predictors of mortality in patients with oropharyngeal dysphagia.

INTRODUCTION:Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals.METHODS AND CASE:We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case.DISCUSSION:Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation.CONCLUSION:This is an academic-clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up-to-date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.

IntroductionDrug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a severe drug-induced reaction associated with eosinophilia and systemic manifestations. Anticonvulsants, sulfonamides, and antivirals are the most related and described drugs in DRESS syndrome. Methods and caseWe present a case of severe multiple organ dysfunction syndrome (MODS) with the risk of death associated with DRESS syndrome due to antileishmanial pentavalent antimonial drug and its simultaneous toxicity. Consequently, a comprehensive review of the main clinical problems and comparative discussion of both clinical conditions was made. DiscussionThe overlap of DRESS syndrome and antileishmanial pentavalent antimonial drug toxicity can be life-threatening. Both conditions represent a true clinical, diagnostic, and therapeutic challenge. We exposed specific clinical and laboratory results with rare occurrence. ConclusionAny physician and dermatologists should keep in mind the broad spectrum of clinical manifestations and laboratory findings associated with the use of pentavalent antimonial drugs. The clinical suspicion, an early diagnosis, and aggressive treatment are essential to prevent complications and death.

Human immunodeficiency virus and co-infection by cytomegalovirus (CMV) is a life threatening association with increased risk of complications and high impact in morbidity and mortality due to immunosenescence, disproportionate inflammatory response and increased viral replication of HIV if not treatment is started [1]. Multisystemic compromise can even produce retinal, gastrointestinal, hematological, pulmonary and central nervous compromise by CMV. The purpose of this review is to provide a diagnostic and therapeutic approach based on current literature and pharmacotherapeutics.

Pituicytoma is a rare glial tumour located in the sellar and/or suprasellar region of the brain, it originates from pituicytes, and they were included in the World Health Organization (WHO) Classification of Central Nervous System Tumours in 2017. As mentioned above it originates from pituicytes cells in the posterior pituitary near the infundibulum. Histological characteristics permits classification and identification among other central nervous system tumours localized in the posterior pituitary or infundibulum. WHO classification describes them as grades such as grade I tumour which has a differentiated structure composed of spindle-shaped cells presumably derived from pituicytes. We report the case of a 37-year-old woman who developed a suprasellar tumour and that it was discovered following a past medical history of amenorrhoea and migraines. Once the lesion was detected in images, the patient rejected surgical treatment even when she developed galactorrhea and preferred medical treatment with cabergoline. However, two years later she developed visual defects due to increase in size by that time accepting surgical treatment. A review of the literature including most common clinical and radiological features of this entity as well as treatment protocols proposed are discussed.

SummaryBurn management options are controversial and a multiple‐handled issue. However, platelet‐rich plasma is gaining interest in several medical fields. Dermatologist worldwide are already publishing some reports about its benefits and personal experiences in their practices. A 40‐year‐old female with a second‐degree burn by VASER‐type liposculpture was treated with platelet‐rich plasma and followed up for 10 months. After treatment, she showed rapid improvement with an adequate cicatrization results. Some studies suggest that the use of platelet‐rich plasma which contains cytokines and growth factors that participate in cellular repair and cellular differentiation, thus improving healing time and re‐epithelization. We present the case of a patient with a second‐degree burn that rapidly improved with autologous platelet‐rich plasma.

The definition and approach of hyperlactatemia classically has been related to tissue hypoperfusion, hepatic insufficiency, and anaerobic metabolism. Nonetheless, there are few aetiologies known which could produce it. Muscle fatigue in patients with chronic obstructive pulmonary disease (COPD) or asthma, as well as the use of inhaled B2 agonist, is associated with hepatic noradrenaline release, activation of glycolysis (converting glucose to pyruvate or lactate), and consequently, an increase in lactate.

A 31-year-old man presenting a dyspnoea, persistent fever, haemoptysis, a Leishmaniasis cutaneous record and recent close contact with a person diagnosed with influenza virus (H1N1). During admission to the emergency department, the patient rapidly progressed to respiratory failure requiring invasive mechanical ventilation and antibiotics because of suspected bacterial pneumonia. During his stay at the intensive care unit, he progressively developed bycytopenia, splenomegaly and reticulonodular lung opacities. Moreover, the bone marrow biopsy evidenced hemophagocytosis of lymphocytes and detection of H1N1 by Reverse Transcription Polymerase Chain Reaction (RT - PCR). Hence, the case of hemophagocytic syndrome secondary to influenza virus H1N1, which was rapidly resolved after initiation of antiviral therapy, is presented hereof.

Systemic lupus erythematosus (SLE) is an inflammatory disease with a wide range of clinical manifestations and complications related to disease activity. One of them is the increase risk to infections secondary to immunological alterations due to pharmacological therapy (especially steroids). Few reports have documented the association of SLE and meningococcal infection with subsequent development of immunological activation (continuous inflammation) and intolerance of the immune system. The attempts to make an early and appropriate approach to these type of patients, generate benefits in survival rates and decrease sequelae among those who survive, especially in those in whose infection compromised central nervous system. We present the case of a patient that presented with neurological symptoms compatible with neuroeffector by Neisseria meningitis isolated in CSF cultures. Despite adequate antibiotic treatment the patient continued to deteriorate neurologically, and alternative diagnosis were evaluated after findings of vasculitis in brain CT scan. Immunological panel was performed with positivity of antibodies commonly present in SLE considering that infection by Neisseria meningitis was a trigger of immunological intolerance and development of SLE. We present the following case to understand the physiopathology and relationship between meningococcal infections, complement consumption, immunological intolerance and the development of autoimmune disease.

Introducción: Es pertinente conocer las características de los pacientes que ingresan a las unidades de cuidado intensivo neonatal para que las acciones en salud respondan a sus necesidades particulares.Objetivo: Caracterizar los pacientes que ingresaron a la Unidad de Cuidado Intensivo Neonatal (UCIN) de la Clínica de la Universidad de La Sabana de enero a diciembre del 2012.Materiales y Métodos: estudio retrospectivo con n=206 neonatos que ingresaron a la UCIN de la Clínica Universidad de La Sabana en el 2012, se revisaron las historias clínicas de los pacientes ingresados para identificar sus características, se calcularon frecuencias relativas y absolutas; y para las variables cuantitativas se describieron medidas de tendencia central y dispersión.Resultados: el 56,3% eran hombres, el promedio de edad gestacional de 36,5 semanas (SD 3,3 semanas), el peso promedio fue de 2625,9 g (SD 757,5 g).La mediana de los días de estancia fue de 4 (IQR: 2 a 9).El principal diagnóstico fue ictericia neonatal en (21,8%), el 22% de los pacientes requirieron ventilación mecánica (VM).La media de la edad gestacional y del peso en pacientes con requerimientos de VM fue de 32.7 semanas (SD: 3,7 semanas) y 1883 g (SD: 779 g) respectivamente, comparado con 37,6 semanas (SD: 2,2 semanas) y 2840 g (SD: 601 g) en los que no requirieron VM.Conclusiones: características como bajo peso al nacer, edad gestacional temprana y el uso de surfactante, se asociaron con el requerimiento de VM, adicionalmente la mortalidad calculada fue del 2,8%.