Mucopolysaccharidosis type III: an updated review

El objetivo de este trabajo es revisar la literatura científica acerca de la mucopolisacaridosis tipo III con el fin de describir sus características principales. Así, se delimita el cuadro clínico y los fenotipos que se consideran a la hora de estudiar este síndrome. A continuación se analizan las pruebas bioquímicas que se llevan a cabo para el diagnóstico específico de esta patología. Posteriormente se revisan puntos clave del diagnóstico precoz y las pruebas actuales que permiten realizar el diagnóstico prenatal y las pruebas genéticas. Igualmente se establece el papel del pediatra y del médico de atención primaria como pilares principales en el seguimiento del paciente así como la importancia de otros especialistas en función de las necesidades de este. Por último, se describen las opciones de tratamiento existentes en el momento actual y las terapias en vías experimentales de mayor relevancia. De este modo, evaluaremos los puntos más importantes de la enfermedad, a fin de facilitar no solo la comprensión de la misma, sino también procurando que el lector conozca el reto que supone esta patología para la medicina en la actualidad.This paper is aimed at revising the scientific literature about mucopolysaccharidosis type III in order to describe its main features. Firstly, the clinical presentation as well as the different phenotypes included in this syndrome are explained. Secondly, biochemical exams used in the specific diagnosis of this syndrome are reviewed. Also, key points related to early diagnosis, prenatal and genetics testings are highlighted. The role of pediatricians and primary care physicians as main actors in the patients’ follow-up and the importance of other specialists depending on the patients’ needs are assessed. Finally, current treatment options and experimental studies for new therapies are described. The most relevant aspects of MPS III are reviewed, facilitating the comprehension of this disease and thus making the readers aware of this challenge in medicine nowadays

Los e-pacientes en Oncología: caracterización basada en corpus de la terminología médica en un foro en línea sobre cáncer

This study aimed to characterize medical terms in an online cancer forum, with particular focus on specialization and semantic features. A three-step analysis was carried out on a 60-million-word corpus to detect and characterize the most typical medical terms used in a cancer forum by means of (1) keywords contrastive, (2) co-text-guided, and (3) semantic analyses. More than half of the 1000 words analysed were medical terms according to the co-text-guided analysis carried out. Most of them (73%) were dictionary-defined medical terms, followed by co-text-defined terms (9%) and medical initialisms (8.5%). The semantic analysis showed a higher number of terms within the fields of Anatomy, Treatment, Hospital and Symptoms. Our findings suggest that medical terms are commonly used in cancer forums, especially to share e-patients’ concerns about treatment, symptoms and hospital environment. The method followed is efficient and could be applied in future studies. Altogether, this article contributes to characterizing medical terms used by e-patients in online cancer forums.El objetivo de este estudio fue caracterizar los términos médicos de un foro en línea sobre cáncer, prestando especial atención a los rasgos semánticos y de especialización. Con el fin de detectar y caracterizar los términos médicos más típicos utilizados en un foro de cáncer, se llevó a cabo un análisis de un corpus de 60 millones de palabras en tres etapas: (a) contraste de palabras clave, (b) estudio del cotexto y (c) análisis semántico. Más de la mitad de las 1000 palabras analizadas eran términos médicos de acuerdo con el análisis guiado por el contexto. La mayor parte de ellas (el 73%) se corresponden con “términos médicos definidos en el diccionario”, seguidos de “términos definidos por el cotexto” (9%) y de “siglas y abreviaturas médicas” (8,5%). En el análisis semántico se encontró un mayor número de términos en los campos de Anatomía, Tratamiento, Hospital y Síntomas. Nuestros hallazgos sugieren que los términos médicos son frecuentemente utilizados en los foros oncológicos, sobre todo para compartir las preocupaciones de los e-pacientes sobre el tratamiento, los síntomas y el medio hospitalario. El método seguido es eficiente y podría aplicarse en estudios futuros. En definitiva, este artículo contribuye a la caracterización de los términos médicos utilizados por los e-pacientes en foros en línea sobre cáncer

Rectal bleeding: an uncommon clinical presentation of sacral chordoma

Los cordomas constituyen los tumores primarios malignos más frecuentes del sacro. Suelen producir una clínica inespecífica e insidiosa, lo que puede conllevar un retraso diagnóstico de años. La compresión de estructuras locales produce dolor lumbar y de cadera, estreñimiento y retención urinaria. La infiltración del recto es infrecuente, suele ser tardía e implica enfermedad avanzada. Las pruebas de imagen del área sacra resultan esenciales en el estudio de estos tumores, aunque la biopsia es necesaria para confirmar el diagnóstico. Presentamos el caso clínico de un paciente que acude a Urgencias refiriendo rectorragia de larga data junto con estreñimiento, dolor lumbar y de cadera, con diagnóstico final de cordoma sacro.Chordomas constitute the most common primary malignant tumours of the sacrum. They usually produce insidious and non-specific symptoms, which may lead to diagnostic delay of years. Compression of local structures produces back and hip pain, constipation and urinary retention. Rectal infiltration is an infrequent, late event that normally implies advanced disease. Sacral imaging is essential to characterize these tumours, although biopsy is required for histological confirmation. We present the case of a male patient who presented to the emergency department reporting long-term rectal bleeding, constipation, and lower back and hip pain. The patient was eventually diagnosed with chordoma of the sacrum

Hospitalisation by tick-borne diseases in the last 10 years in two hospitals in South Spain: analysis of tick exposure data collected in the Emergency Department

Tick-borne diseases (TBDs) can sometimes cause severe symptoms and lead to hospitalisation, but they often go unnoticed in the Emergency Department (ED). The aim of this study was twofold: (i) to describe the profile of patients hospitalised by TBDs; and (ii) to evaluate the data collected in the medical records from the ED in order to analyse their potential clinical consequences. A total of 84 cases that included all TBD diagnoses registered in the ED records were identified and analysed. These corresponded to all the hospitalisations by TBDs in the last 10 years (2009–2019) in two tertiary hospitals in Granada, Spain. Statistical analyses were made using RStudio. Coinciding with the absence of patient’s report of exposure to ticks, 64.3% of TBDs were not suspected in the ED. Intensive care unit admission was required in 8.3% of cases, and the mortality rate was 2.4%. Non-suspected cases showed longer hospital stay (P < 0.001), treatment duration (P = 0.02) and delay in the initiation of antibiotic treatment (P < 0.001). Our findings indicate that symptoms associated with TBDs are highly non-specific. In the absence of explicit information related to potential tick exposure, TBDs are not initially suspected. As a consequence, elective treatment administration is delayed and hospitalisation time is prolonged. In conclusion, our results highlight the importance of addressing potential exposure to ticks during the ED contact with patients presenting with febrile syndrome

Prevalence of Multi-Resistant Microorganisms and Antibiotic Stewardship among Hospitalized Patients Living in Residential Care Homes in Spain: A Cross-Sectional Study

Antimicrobial resistance is a growing global health problem. Patients living in care homes are a vulnerable high-risk population colonized by multidrug-resistant organisms (MDRO). We identified a case series of 116 residents of care homes from a cohort of 540 consecutive patients admitted to the internal medicine service of our hospital. We performed early diagnostic tests of MDRO through anal exudates in our sample. The prevalence of MDRO colonization was 34.5% of residents and 70% of them had not been previously identified in the clinical records. Previous hospitalizations and in-hospital antibiotic administration were significantly associated with the presence of MDRO. Our results emphasize the need to consider care homes in the planning of regional and national infection control measures and for implementing surveillance systems that monitor the spread of antimicrobial resistance in Spain. Systematic early testing upon admission to hospital services with a high prevalence of patients with MDRO colonization (e.g., internal medicine) could contribute to the adoption of adequate prevention measures. Specific educational programs for care home staff should also be implemented to address this increasing problem.Catedra de Docencia e Investigacion SEMERGEN-Medicina de Familia, University of Granada, Spai

Application of Wells’ Criteria for Acute Pulmonary Embolism in the Emergency Department. Preliminary Results of an Observational Study

Objetivos: Estudiar la frecuencia de utilización de escalas de probabilidad clínica (Escala de Wells, EW) ante la sospecha de tromboembolismo pulmonar agudo (TEPA) en pacientes a los que se realiza angiografía torácica por tomografía computarizada (angioTC) o gammagrafía V/Q. Métodos: Se realizó un estudio observacional retrospectivo de las historias clínicas de los pacientes con angioTC o gammagrafía V/Q solicitada desde Urgencias por sospecha de TEPA en nuestro hospital durante enero de 2018. Se registraron variables sociodemográficas, uso de la EW, valor del dímero D, frecuencia de TEPA, síntomas, factores de riesgo, diagnósticos alternativos y se reconstruyeron las EW simplificadas (EWs) si estas no constaban. Se realizaron análisis de frecuencias y de asociaciones de las variables recogidas. Resultados: Se incluyeron 64 pacientes (42,18% hombres), de los cuales 19 presentaron TEPA (29,69%). Los diagnósticos alternativos más frecuentes fueron la insuficiencia cardíaca e infección respiratoria. La EW solo constó por escrito en dos de ellos (3,13%). Según la EWs reconstruida, 50 pacientes presentaron una probabilidad clínica baja (78,13%) y 14 pacientes (21,88%) una probabilidad alta. Al comparar la probabilidad clínica en función de la existencia de TEPA se encontraron diferencias significativas entre los grupos de baja y alta probabilidad (p=0,008). En este último, solo se aplicó correctamente el protocolo clínico del hospital en un paciente (6,67%). No se encontraron diferencias significativas entre el grupo TEPA y No TEPA respecto a síntomas, factores de riesgo, sexo o edad. Conclusiones: La baja aplicación de las escalas de probabilidad clínica encontrada supone una escasa adherencia a las guías clínicas para el diagnóstico de TEPA y puede implicar un uso de técnicas innecesarias potencialmente dañinas para el paciente. La prevalencia, síntomas y factores de riesgo de TEPA hallados son similares a los descritos en la literatura, con algunas excepciones que habrán de ser confirmadas en estudios futuros.Objectives: To study the frequency of use and assess potential factors associated to the use of Diagnostic Probability Scales (Wells’ Criteria) in suspected acute Pulmonary Embolism (PE) in patients that were tested using computarized tomography angiography (CTA) or ventilation/perfusion scintigraphy (V/Q scan). Methods: A retrospective observational study was conducted through the examination of clinical histories of patients admitted to the ED in our hospital that underwent CTA or V/Q scans due to suspected PE. Sociodemographic factors, Wells’ score, D-dimer values, PE prevalence, symptoms, risk factors, alternative diagnoses and retrospective simplified Wells’ scores were obtained. Frequency and association analyses were conducted. Results: Sixty-two patients (38.18% males) were included, of which nineteen (29.69%) presented PE. The most common alternative diagnoses were heart failure and respiratory infections. Wells score appeared in only 2 cases (3.13%). Retrospective simplified Wells score showed that 50 patients (78.13%) had low probability and 14 patients (21.88%) had high probability of PE. When stratified by presence of PE, significant differences were found between low and high probability groups (p = .008). In the latter group, the protocol was correctly followed in only 1 patient (6.67%). No significant differences were found between the PE versus no PE groups regarding symptoms, risk factors, age or gender. Conclusion: The low use of PSS found implies bad adherence to clinical protocols in suspected PE. The prevalence, symptoms and risk factors associated with PE found in this study are similar to those reported in the literature, with some exceptions that should be confirmed in future studies

Hospitalisation by tick-borne diseases in the last 10 years in two hospitals in South Spain: analysis of tick exposure data collected in the Emergency Department.

Tick-borne diseases (TBDs) can sometimes cause severe symptoms and lead to hospitalisation, but they often go unnoticed in the Emergency Department (ED). The aim of this study was twofold: (i) to describe the profile of patients hospitalised by TBDs; and (ii) to evaluate the data collected in the medical records from the ED in order to analyse their potential clinical consequences. A total of 84 cases that included all TBD diagnoses registered in the ED records were identified and analysed. These corresponded to all the hospitalisations by TBDs in the last 10 years (2009-2019) in two tertiary hospitals in Granada, Spain. Statistical analyses were made using RStudio. Coinciding with the absence of patient's report of exposure to ticks, 64.3% of TBDs were not suspected in the ED. Intensive care unit admission was required in 8.3% of cases, and the mortality rate was 2.4%. Non-suspected cases showed longer hospital stay (