Estudio descriptivo de una cohorte de pacientes con COVID-19 hospitalizados en España / Descriptive study of a cohort of COVID-19 hospitalized patients in Spain

Resumen Antecedentes: Se han publicado varios estudios descriptivos de cohortes de pacientes afectados por COVID-19. Objetivo: Describir las características de pacientes con infección por SARS-CoV-2 que ingresaron al Hospital Universitario de La Plana, Castellón, España. Métodos: Estudio observacional de cohortes retrospectivo, que incluyó pacientes de 18 años o mayores que ingresaron en forma consecutiva con infección confirmada por SARS-CoV2; se describen características demográficas, comorbilidades, síntomas clínicos, resultados de laboratorio y pruebas radiológicas. Resultados: El estudio incluyó 255 pacientes con edad promedio de 70 años; 54.9 % fue del sexo masculino. Las comorbilidades más frecuentes fueron hipertensión arterial (58 %), dislipemia (42.4 %), diabetes (25.5 %) y obesidad (24.3 %). La mediana de días del inicio de síntomas clínicos antes del ingreso fue de siete. Las manifestaciones más frecuentes previas al ingreso fueron fiebre (74.5 %), tos seca (61.2 %), malestar general (51.8 %) y disnea (51.0 %); 19 pacientes (7.4 %) ingresaron a la unidad de cuidados intensivos, donde la mortalidad fue de 50 %; la mortalidad total fue de 16.9 %. Conclusiones: Nuestra cohorte refleja características similares a las de otras series europeas. La mortalidad fue inferior a la de estudios similares.

Abstract Background: Several descriptive cohort studies of patients affected by COVID-19 have been published. Objective: To describe the characteristics of patients with SARS-CoV-2 infection who were admitted to Hospital Universitario la Plana, Castellón, Spain. Methods: Retrospective, observational cohort study that included 18-year-old or older patients who were consecutively admitted with SARS-CoV2 confirmed infection. Demographic characteristics, comorbidities, clinical symptoms, laboratory results and radiological tests are described. Results: The study included 255 patients, with a mean age of 70 years; 54.9 % were males. Most common comorbidities were high blood pressure (58 %), dyslipidemia (42.4 %), diabetes (25.5 %) and obesity (24.3 %). Median number of days from the onset of clinical symptoms prior to hospital admission was seven. Most common manifestations prior to admission were fever (74.5 %), dry cough (61.2 %), malaise (51.8 %) and dyspnea (51.0 %); 19 patients (7.4 %) were admitted to the intensive care unit, where mortality was 50 %; overall mortality was 16.9 %. Conclusions: Our cohort reflects similar characteristics to those of other European series. Mortality was lower than that in similar studies.

Transmission of dengue virus from deceased donors to solid organ transplant recipients: case report and literature review

ABSTRACT Dengue fever is a vector-transmitted viral infection. Non-vectorial forms of transmission can occur through organ transplantation. We reviewed medical records of donors and recipients with suspected dengue in the first post-transplant week. We used serologic and molecular analysis to confirm the infection. Herein, we describe four cases of dengue virus transmission through solid organ transplantation. The recipients had positive serology and RT-PCR. Infection in donors was detected through serology. All cases presented with fever within the first week after transplantation. There were no fatal cases. After these cases, we implemented dengue screening with NS1 antigen detection in donors during dengue outbreaks, and no new cases were detected. In the literature review, additional cases had been published through August 2017. Transmission of Dengue virus can occur through organ donation. In endemic regions, it is important to suspect and screen for dengue in febrile and thrombocytopenic recipients in the postoperative period.

Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso / Joubert syndrome associated with Dandy-Walker malformation in a pediatric patient: a case report

Se presenta el caso de una niña de 10 meses de edad que desde el nacimiento experimentó apnea e hiperpnea, hipotonía y nistagmus. Durante sus primeros meses de vida presentó además insuficiencia renal, retraso psicomotor e infecciones severas. Se diagnosticó de síndrome de Joubert asociado a malformación de Dandy-Walker y en la prueba de resonancia magnética se observó el típico signo de "Diente Molar" característicamente asociado al quiste. La asociación infrecuente de este tipo de malformaciones cerebrales agrava ciertamente el pronóstico del cuadro original.

The case of a 10-month-old girl with apnea and hyperpnea, hypotonia and nystagmus from the time of birth, is presented. During her first months of life she presented additional manifestations of renal failure, psychomotor retardation and severe infections. The diagnosis of Joubert syndrome associated with Dandy-Walker Malformation was formulated, and the typical "Molar Tooth" sign, characteristically associated with the cyst characteristics was detected with magnetic resonance imaging tests. The uncommon association of these brain malformations that worsen the prognosis, is discussed.

Síndrome de Joubert / Joubert syndrome

El Síndrome de Joubert (SJ) es un raro trastorno autosómico recesivo con una incidencia de 1/100 000 a 1/150 000 nacidos vivos, considerado una ciliopatia que muestra tubulopatía renal, inmunodeficiencia y trastorno de la migración neuronal en cerebelo y tronco encefálico. El criterio diagnóstico más saltante es el “Signo del Molar” detectado por resonancia magnética cerebral, que identifica hipoplasia de los pedúnculos y vermis cerebeloso. Hasta el momento se han descrito seis subgrupos fenotípicos: SJ puro; SJ con defecto ocular (distrofia retiniana); SJ con defectos renales (no asociados a patolog¡a retiniana); SJ con defectos óculorrenales; SJ con defecto hepático y SJ con defectos orofaciodigitales (por ejemplo, lengua bífida, hamartomas múltiples, múltiples frenillos orales y polidactilia). La importancia de un diagnóstico precoz del SJ se puede reflejar en un posible mejor pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario y consejo genético para la prevención de nuevos casos en familias afectadas.

The Joubert Syndrome (JS) is a rare autosomal recessive disorder with an incidence of 1 / 100000 to 1/150 000 births, considered a ciliopathy and showing renal tubular disease, immunodeficiency and impaired neuronal migration in the cerebellum and brain stem. The main diagnostic criterion is the identification of the “Molar sign” through cerebral magnetic resonance that identifies hypoplasia of cerebellar vermis and peduncles. So far six phenotypic subgroups have been described: JS pure; JS with ocular defect (retinal dystrophy); JS with kidney defects (not associated with retinal pathology); JS with oculorrenal defects; JS with liver defect, and JS with orofaciodigital defects (eg, split tongue, multiple hamartomas, multiple oral frenums and polydactyly). The importance of diagnosing JS at an early stage is related to a possibly better prognosis, and the possibility of improving the patient’s quality of life by means of a multidisciplinary management and provision of genetic counseling for prevention of new cases in affected families.