Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the or genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified in the gene. This variant has been previously described in the literature, and here we are reporting the relationship with clinical findings. MHE is suspected according to the clinical manifestations; molecular research should be performed to establish the most frequent mutations. A support, diagnosis, and follow-up group should be created, and genetic counseling should be available for patients and families.

Objectives: Risk factors for disabilities in severely injured patients are unknown. Most studies are retrospective in design or did not analyse severely injured patients. The aim of the present prospective cohort study was to examine which trauma-and patient related factors are risk factors for a lower health status (HS) and to gain more insight into the HS and recovery patterns twelve months after a severe trauma. Methods: A multicentre prospective observational cohort study was conducted. Adult trauma patients with severe injuries (Injury Severity Score (ISS) $ 16) were included from August 2015 until November 2016 if they were admitted to one of the hospitals in our region. Outcome measures were the EuroQol5D-3L (EQ-5D utility and EQ-VAS) and the Health Utilities Index (HUI2 and HUI3) one week and one, three, six and twelve months after injury. Patient and trauma characteristics were analysed as possible risk factors with linear mixed models. The recovery patterns were analysed based on time interaction. Additionally, the risk factors for problems in the five EQ-5D dimensions of HS and cognition were analysed. Results: A total of 239 severely injured patients were included. Pre-injury HS, hospital length of stay (H-LOS), ISS, ASA classification and extremity injuries are significant risk factors for a lower HS. A time interaction was seen in employment status, employed patients showed an upward trend over time. Patients with an ASA II, ASA III or ASA IV classification showed a downward trend over time. An extremity injury is a significant risk factor in mobility problems and these patients showed a significant upward trend over time in HS. Conclusions: Lower pre-injury HS, longer H-LOS, higher ISS, higher ASA classification, unemployment, single person household and extremity injuries are the most important risk factors for a lower HS during one year after a severe injury.

El presente artículo de investigación es de tipo descriptivo, la metodología utilizada fue análisis de contenido y revisión documental, se centró en la caracterización de 23 actas de aprendizaje o syllabus del componente electivo correspondiente a las asignaturas electivas ofertadas para los programas de pregrado de la Fundación Universitaria de Ciencias de la Salud (FUCS), en el periodo 2017-1 y se realizó con el propósito de cualificar la gestión curricular de las actas de aprendizaje, puesto que en ellas, se hacen explícitas las intencionalidades pedagógicas y didácticas que orientan los procesos de enseñanza-aprendizaje y por lo tanto se convierten en garantes de la calidad educativa en los programas ofertados. Una vez identificados los focos problémicos de la gestión curricular de las actas de aprendizaje, se propone un instrumento orientador para docentes y directivos que permita su creación y cualificación, conforme al modelo constructivista de la institución y a las políticas del Proyecto Educativo Institucional (PEI).

Introduction:. Patients with Down syndrome (DS) have an increased risk of developing autoimmune diseases. This is a rare case of a pediatric patient with DS with an initial clinical profile of diabetic ketoacidosis.Case presentation:. 6-year-old male patient with symptoms suggestive of diabetes mellitus type 1 (DM1) of 15 days of evolution (polyuria, polydipsia, polyphagia and loss of 2 kilos of weight), who was admitted to the emergency department of the Hospital de San José, in Bogotá, Colombia, with uncontrollable vomiting and dehydration. The tests performed confirmed moderate ketoacidosis: glycometry: 592 mg/dL, pH: 7.19, HCO3: 10 mmol/L, PCO2: 45, PO2: 95 and lactic acid: 1.4 mmol/L. Management with isotonic fluids and intravenous insulin therapy was initiated and the patient was transferred to the pediatric intensive care unit, where ketoacidosis was controlled in approximately 10 hours. Subcutaneous insulin schedule was initiated without complications.Discussion:. This case highlights the importance of monitoring possible autoimmune complications in patients with DS, since the risk of developing them is 4.2 times higher than in the general population.Conclusion:. This case calls on to contemplate autoimmune complications in patients with DS during clinical practice. Although they are not part of the most frequent reasons for consultation, they cannot be underestimated and should be suspected and treated in a timely manner.

Background The epidemiology of methicillin-resistant (MRSA) and methicillin-susceptible (MSSA) S. aureus in pediatrics has changed in recent years. MRSA infections have been reported to be more severe than MSSA. Methods Multicenter retrospective cohort, in 6 pediatric hospitals in Bogotá, Colombia, between January 1, 2014, and December 31, 2018, 1 isolate was included for patient from the same origin. Infections were classified into: SSTI, osteoarticular, bacteremia, or pneumonia.The objective is to establish differences between clinical, laboratory, and outcomes of MSSA and MRSA infections, according to origin of the infection in a pediatric population from Bogotá, Colombia. Results 551 patients were included; 211 (38%) MRSA and 340 (62%) MSSA, in total 703 cultures. Figure 1. Some risk factors were statistically associated with MSSA: Heart disease (3.3% Vs. 0.5%) neurologic disease (5.9% vs. 2.4%), surgery in last 6 months (11% vs. 5%), use of vascular or external devices (3% vs 11%) and previous hospitalization >3 days (11% vs 17%) Table 2. In 84/159 (52%) cases, bacteremia was associated with osteoarticular infection (OI), 19/159 (13%) with pneumonia, 21/159 (13%) with SSTI, 14/159 (9%) with other foci, 21/159 (13%) were primary. Independently of the origin, PICU admittance was more frequent in MRSA (52% vs. 28), as well as mechanical ventilation (MV) (30% vs. 13%) and inotropic support (IS )(38% vs 17%). Of 136 osteoarticular infections, 59 (43,4%) were MRSA and 77 (56,6%) MSSA. MRSA isolates required more than 3 surgical procedures (45% vs 24%), more PICU admittance (36% vs. 12%) and IS (27% vs. 5%). Complicated pneumonia was more frequently associated to MRSA in comparison with MSSA (57% vs. 23%). In pneumonia, MRSA also was significantly associated with PICU. (74%vs 50%), MS (61%vs 32%), and VS (52% vs 27%). SSTI was not associated with greater severity or worse outcome (PICU, MV, IS) according to S. aureus susceptibility. Table 3b. Infection groups depending on the presence or not of resistance Conclusion MRSA was associated with more severe course in bacteremia, OI and pneumonia. It is interesting that some classically risk factors associated with MRSA infections were found to be related to MSSA. In general, with SSTI exception, MRSA increase risk of PICU, mechanical support and inotropic support in a pediatric population in Bogotá, Colombia. Disclosures Ivan Felipe Gutiérrez Tobar, n/a, Pfizer and MSD (Advisor or Review Panel member, Research Grant or Support, Speaker’s Bureau, Has received support from Pfizer and MSD for participation in congresses and has received conference payments from Pfizer)Pfizer and MSD (Speaker’s Bureau, Other Financial or Material Support, Has received support from Pfizer for participation in congresses) Sandra Beltran, n/a, Pfizer (Other Financial or Material Support, Has received support from Pfizer for participation in congresses)