RESUMEN
The role of immunosuppression among coronavirus disease 2019 (COVID-19) patients has not been elucidated and management may be challenging. This observational study included confirmed COVID-19 patients. The primary endpoint was the development of moderate-severe acute respiratory distress syndrome (ARDS). Time to moderate-severe ARDS, the need for mechanical or noninvasive ventilation (MV/NIV), death, and a composite of death or MV/NIV were secondary endpoints. Of 138 patients included, 27 (19.6%) were immunosuppressed (IS) and 95 (68.8%) were male, with a median (IQR) age of 68 (54-78) years. A significantly lower proportion of IS patients (25.9%) compared to non-IS patients (52.3%) developed moderate-severe ARDS, in both unadjusted (0.32; 95% CI, 0.13-0.83; p = .017) and adjusted (aOR, 0.25; 95% CI, 0.08-0.80; p = .019) analyses. After stratifying by pathologies, only IS patients with autoimmune diseases remained significant (aOR 0.25; 95% CI, 0.07-0.98; p = .046). Nonsignificant trends toward a longer time to moderate or severe ARDS, a lower need for MV/NIV, and a lower risk of death or MV/NIV were detected among IS. In our cohort of COVID-19 patients, nonsevere immunosuppression was associated with a lower risk of moderate-severe ARDS, especially among AD. This suggests a potential protective effect from a hypothesized hyper-inflammatory response.
Asunto(s)
COVID-19/inmunología , Síndrome de Dificultad Respiratoria/inmunología , Anciano , Anciano de 80 o más Años , COVID-19/epidemiología , COVID-19/virología , Estudios de Cohortes , Coinfección , Femenino , Hospitalización , Humanos , Terapia de Inmunosupresión , Masculino , Persona de Mediana Edad , Proyectos Piloto , Síndrome de Dificultad Respiratoria/epidemiología , Síndrome de Dificultad Respiratoria/virología , Estudios Retrospectivos , SARS-CoV-2/inmunología , Índice de Severidad de la Enfermedad , España/epidemiologíaRESUMEN
INTRODUCTION: An increased incidence of stroke in HIV-infected patients has already been reported, suggesting that HIV infection may be a cerebrovascular risk factor. The objective of this study was to assess temporal trends in the proportion of HIV infection among patients with stroke in Spain. METHODS: Data were obtained from the minimum basic dataset (MBDS) of all patients hospitalized in Spain between 1997 and 2012 with a primary or secondary diagnosis of stroke. The annual proportion of HIV infection and time trends (stratifying by type of stroke and HIV stage) were calculated, and predictors of HIV infection and the social and economic impact of HIV-infected (HIV+) and non-infected (HIV−) patients were analyzed. RESULTS: Of 857,371 patients hospitalized with an incident stroke, 2134 (0.25%) had HIV infection. A 2.5% year-on-year increase (OR 1.025, 95% CI 1.015-1.036, p < 0.0001) of the proportion of HIV-infected patients was observed due to an increase in the asymptomatic stage of the infection (per year OR 1.077, 95% CI 1.057-1.097, p < 0.0001), as the proportion of patients with AIDS remained stable. Factors independently associated with HIV infection and stroke were active smoking, stimulating drugs and hepatitis C virus (HCV) infection. A higher mortality rate, longer hospital stay and a higher cost per hospitalized patient was observed among HIV+ patients. CONCLUSIONS: From 1997 to 2012, there was an increase in the proportion of HIV infection among patients hospitalized with stroke irrespective of the classical vascular risk factors, reinforcing the role of HIV infection as a cerebrovascular risk factor
INTRODUCCIÓN: Se ha observado previamente un aumento de la incidencia de ictus en pacientes con VIH (VIH+), lo que sugiere que esta infección es un factor de riesgo cerebrovascular (FRCV). El objetivo fue analizar las tendencias temporales del porcentaje de VIH+ en pacientes con ictus en España. MÉTODOS: Los datos se obtuvieron del Conjunto Mínimo Básico de Datos (CMBD), incluyendo a todos los pacientes hospitalizados en España entre 1997 y 2012 con un diagnóstico primario o secundario de ictus. Se calcularon el porcentaje anual de infección por VIH y las tendencias temporales (estratificados por el tipo de ictus y el estadio del VIH), así como los factores predictores independientes de infección por VIH en pacientes con ictus. La mortalidad, las estancias hospitalarias y el coste por paciente fueron similares entre los pacientes VIH+ y los pacientes no infectados por el VIH (VIH-). RESULTADOS: De los 857.371 pacientes hospitalizados con un ictus incidente, 2.134 (0,25%) presentaban infección por VIH. Se observó un aumento de un 2,5% anual (OR: 1,025; IC del 95%: 1,015-1,036; p < 0,0001) en el porcentaje de infección por VIH, secundario a un aumento en el estadio asintomático de la infección (OR anual: 1,077; IC del 95%: 1,057-1,097; p < 0,0001), puesto que el porcentaje permaneció estable en pacientes con SIDA. La infección por el virus de la hepatitis C (VHC), el consumo de drogas estimulantes y el tabaquismo activo fueron factores independientemente asociados a sufrir un ictus y presentar VIH. Se observó una mayor mortalidad (OR: 1,81; p < 0,0001) y una mayor estancia hospitalaria y coste por paciente hospitalizado en los pacientes VIH+. CONCLUSIONES: De 1997 a 2012, se ha observado un aumento del porcentaje de infección por VIH en pacientes hospitalizados con ictus independientemente de los factores de riesgo clásicos, lo que refuerza el papel de las infecciones por VIH como FRCV
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Infecciones por VIH/complicaciones , Infecciones por VIH/epidemiología , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Factores de Riesgo , Incidencia , España/epidemiologíaRESUMEN
KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome). Patients with EAST/SeSAME syndrome display renal salt wasting and electrolyte imbalance that resemble the clinical features of impaired distal tubular salt transport in Gitelman's syndrome. A key distinguishing feature between these two conditions is the additional neurological (extrarenal) manifestations found in EAST/SeSAME syndrome. Recent reports have further expanded the clinical and mutational spectrum of KCNJ10-related disorders including non-syndromic early-onset cerebellar ataxia. Here, we describe a kindred of three affected siblings with early-onset ataxia, deafness, and progressive spasticity without other prominent clinical features. By using targeted next-generation sequencing, we have identified two novel missense variants, c.488G>A (p.G163D) and c.512G>A (p.R171Q), in the KCNJ10 gene that, in compound heterozygosis, cause this distinctive EAST/SeSAME phenotype in our family. Electrophysiological characterization of these two variants confirmed their pathogenicity. When expressed in CHO cells, the R171Q mutation resulted in 50% reduction of currents compared to wild-type KCNJ10 and G163D showed a complete loss of function. Co-expression of G163D and R171Q had a more pronounced effect on currents and membrane potential than R171Q alone but less severe than single expression of G163D. Moreover, the effect of the mutations seemed less pronounced in the presence of Kir5.1 (encoded by KCNJ16), with whom the renal Kir4.1 channels form heteromers. This partial functional rescue by co-expression with Kir5.1 might explain the lack of renal symptoms in the patients. This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts of KCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Asunto(s)
Pérdida Auditiva Sensorineural/genética , Discapacidad Intelectual/genética , Mutación Missense , Canales de Potasio de Rectificación Interna/genética , Convulsiones/genética , Anciano , Animales , Células CHO , Cricetulus , Femenino , Pérdida Auditiva Sensorineural/fisiopatología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Discapacidad Intelectual/fisiopatología , Persona de Mediana Edad , Linaje , Fenotipo , Convulsiones/fisiopatologíaRESUMEN
INTRODUCTION: An increased incidence of stroke in HIV-infected patients has already been reported, suggesting that HIV infection may be a cerebrovascular risk factor. The objective of this study was to assess temporal trends in the proportion of HIV infection among patients with stroke in Spain. METHODS: Data were obtained from the minimum basic dataset (MBDS) of all patients hospitalized in Spain between 1997 and 2012 with a primary or secondary diagnosis of stroke. The annual proportion of HIV infection and time trends (stratifying by type of stroke and HIV stage) were calculated, and predictors of HIV infection and the social and economic impact of HIV-infected (HIV+) and non-infected (HIV-) patients were analyzed. RESULTS: Of 857,371 patients hospitalized with an incident stroke, 2134 (0.25%) had HIV infection. A 2.5% year-on-year increase (OR 1.025, 95% CI 1.015-1.036, p<0.0001) of the proportion of HIV-infected patients was observed due to an increase in the asymptomatic stage of the infection (per year OR 1.077, 95% CI 1.057-1.097, p<0.0001), as the proportion of patients with AIDS remained stable. Factors independently associated with HIV infection and stroke were active smoking, stimulating drugs and hepatitis C virus (HCV) infection. A higher mortality rate, longer hospital stay and a higher cost per hospitalized patient was observed among HIV+ patients. CONCLUSIONS: From 1997 to 2012, there was an increase in the proportion of HIV infection among patients hospitalized with stroke irrespective of the classical vascular risk factors, reinforcing the role of HIV infection as a cerebrovascular risk factor.
Asunto(s)
Infecciones por VIH , Accidente Cerebrovascular , Infecciones por VIH/epidemiología , Humanos , Estudios Retrospectivos , España/epidemiología , Accidente Cerebrovascular/epidemiologíaRESUMEN
INTRODUCTION: Substantia nigra hyperechogenicity (SN+) in transcranial sonography (TCS) is frequent in Parkinson's disease (PD), while lenticular nucleus hyperechogenicity (LN+) and 3rd ventricle enlargement (3V+) are typical of Atypical Parkinsonisms (AP). However, there are no studies assessing the diagnostic yield of all TCS biomarkers in the three AP (progressive supranuclear palsy, PSP, multiple system atrophy, MSA, corticobasal degeneration, CBD). Previous references lack homogeneous criteria and data are incomprehensive. METHODS: Analysis of TCS performed in routine clinical practice in AP and PD patients from two tertiary hospitals. Expert recommendations were strictly followed. Previous literature was critically analysed. RESULTS: 155 AP (98 PSP, 40 MSA, 14 CBD), 254 PD, 145 control subjects were included. We confirmed good sensitivity for SN+ in PD (80%), but specificity was lower than reported (61%). LN+ and 3V + had moderate sensitivity for AP and PSP diagnosis respectively (65%, 63%), but specificity was higher than reported (87%, 91%). We confirmed high specificity and positive predictive value of the combination SN/LN (98%, 93% AP; 83%, 86% PD). The combinations of two or three echofeatures, previously unreported, showed high specificity but lower sensitivity (SN/3V: 75% sensitivity, 87% specificity PD; 42% sensitivity, 98% specificity PSP) (SN + LN+: 79% sensitivity, 86% specificity CBD) (SN/3V/LN: 67% sensitivity, 89% specificity PD; 29% sensitivity, 99% specificity PSP; 41% sensitivity, 95% specificity MSA; 57% sensitivity 91% specificity CBD). CONCLUSIONS: We present a large comprehensive study of TCS, confirming its usefulness and certain limitations in AP diagnosis. Adherence to consensus criteria is critical to implement TCS for clinical and research purposes.
Asunto(s)
Cuerpo Estriado/diagnóstico por imagen , Trastornos Parkinsonianos/diagnóstico por imagen , Sustancia Negra/diagnóstico por imagen , Tercer Ventrículo/diagnóstico por imagen , Ultrasonografía Doppler Transcraneal/normas , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
Objetivo. El deterioro cognitivo está infradiagnosticado. El estudio DECOFIRH pretende detectar la tasa de deterioro cognitivo no conocido y su impacto en la situación funcional de estos pacientes tras un ingreso hospitalario mediante cuestionarios realizados a un informador. Pacientes y métodos. Estudio observacional prospectivo realizado sobre una serie de casos, de pacientes comprendidos entre 70 y 85 años, que ingresan en el Servicio de Medicina Interna de un hospital terciario. Se excluyó a los pacientes con diagnóstico de demencia o enfermedades neurológicas graves, así como a los que habían sido hospitalizados recientemente. Los tests empleados en la detección de deterioro cognitivo fueron Alzheimer's Disease 8 (AD8) e Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). Asimismo, se evaluó la situación funcional mediante el índice de Barthel en el momento del ingreso y tres meses después. Resultados. Durante los tres meses de seguimiento ingresaron 809 pacientes y cumplieron los criterios de inclusión 79 (9,7%) de ellos. Su edad media era de 80 años. Mediante el IQCODE se detectó una tasa de deterioro cognitivo del 30,3%, y con el AD8, del 34,1%. En el ingreso, el 37,9% de los pacientes era funcionalmente independiente. A los tres meses, este porcentaje cayó al 24%. Conclusiones. En nuestra muestra, casi un tercio de los ancianos sin comorbilidades sistémicas o neurológicas graves dio positivo para la detección de deterioro cognitivo según nuestros tests basados en el informador, sin ser éste conocido previamente. El deterioro funcional afecta casi a una cuarta parte de estos pacientes a los tres meses del ingreso (AU)
Aim. Cognitive impairment is underdiagnosed in the elderly. We aimed to study the rate of positive responses to an informant-based questionnaires and functional disability after hospital discharge. Patients and methods. Observational prospective case series of patients aged 70-85 years-old admitted for hospitalization in an Internal Medicine ward. All medical records were reviewed and those patients with no previous diagnosis of dementia or related neurological conditions, no previous recent hospitalization or not having a caregiver were evaluated after signing an informed consent. A medical interview including the Alzheimer's Disease 8 (AD8), the Informant Questionnaire. on Cognitive Decline in the Elderly (IQCODE) and Barthel Index was completed. Barthel Index was obtained three months after discharge. Results. During a 3-month period a total of 809 admissions were screened and 79 (9.7%) fulfilled the study criteria. Patients mean age was 80 years-old. Common comorbidities were arterial hypertension (83.5%), major surgery (54.4%) and heart disorders (50.6%). The most frequent cause of admission was infectious disease (37.9%). Test positivity for cognitive impairment was 30.3% for IQCODE and 34.1% for AD8. At admission 37.9% of the patients were functionally independent. At three months this percentage dropped to 24%. Conclusions. In this small sample size, almost a third of older patients, without major comorbidities or neurological disorders, admitted to a general hospital showed an informant-based suggestion of cognitive impairment previously undiagnosed. Functional impairment affects almost a quarter of these patients three months after admission (AU)
Asunto(s)
Humanos , Anciano , Anciano de 80 o más Años , Disfunción Cognitiva/epidemiología , Hospitalización/estadística & datos numéricos , Estudios Prospectivos , Psicometría/instrumentación , Tamizaje Masivo/estadística & datos numéricos , Anciano Frágil/estadística & datos numéricos , Factores de RiesgoRESUMEN
BACKGROUND: HHV7 reactivation has been occasionally reported as a cause of encephalitis or myelitis in transplant recipients, but to our knowledge it has never been associated with neurological disease in HIV-infected patients. We report a case of acute myelitis in an HIV-infected patient, with sustained HHV-7 DNA amplification in cerebrospinal fluid (CSF) and a favourable response to foscarnet. CASE REPORT: A 40 year-old man with HIV infection was admitted with asymmetric hypoesthesia in legs and paraparesis. He was receiving treatment with efavirenz, emtricitabine and tenofovir, his CD4 count was 580/mm3 and HIV viral load was undetectable. Magnetic resonance imaging showed a focal central hyperintensity on T2 and STIR sequences, on the torathic spinal cord, with slight enhancement after intravenous gadolinium. All microbiological studies were negative except for HHV-7 DNA amplification in CSF. With a diagnosis of idiopathic transverse myelitis, treatment with high-dose intravenous methylprednisolone was initiated. However, paraparesis continued worsening, and a second CSF obtained 12 days after the first one resulted again in HHV-7 amplification. RESULTS: The patient was treated with a 2 week course of foscarnet, and a rapid neurological improvement was noted. After treatment, PCR for HHV-7 in CSF was negative. Neurological exam was normal one month after treatment initiation. CONCLUSION: HHV-7 reactivation may cause neurological disease in patients with HIV infection. Foscarnet is an effective treatment in HHV-7 associated myelitis.
Asunto(s)
Coinfección , Infecciones por VIH/diagnóstico , Herpesvirus Humano 7 , Mielitis/diagnóstico , Mielitis/virología , Infecciones por Roseolovirus/diagnóstico , Adulto , Antivirales/uso terapéutico , Recuento de Linfocito CD4 , ADN Viral , Foscarnet/uso terapéutico , Infecciones por VIH/inmunología , Infecciones por VIH/virología , Herpesvirus Humano 7/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Mielitis/tratamiento farmacológico , Infecciones por Roseolovirus/tratamiento farmacológico , Infecciones por Roseolovirus/virología , Médula Espinal/patología , Resultado del Tratamiento , Carga Viral , Activación ViralRESUMEN
El síndrome de MELAS (del inglés: mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) es una enfermedad de herencia materna caracterizada por una alteración en la cadena respiratoria mitocondrial. Además de la encefalopatía, la miopatía y los fenómenos que simulan ictus, entre sus síntomas también se encuentran manifestaciones psiquiátricas, sobre todo deterioro cognitivo, trastornos afectivos, psicosis y ansiedad. Debido a la escasa prevalencia de esta enfermedad, existen pocas referencias respecto al tratamiento de sus síntomas psiquiátricos. Muchos de los neurolépticos empleados en la práctica clínica habitual han demostrado toxicidad únicamente in vitro sobre la cadena respiratoria mitocondrial, por lo que su uso se desaconseja en estos pacientes. Presentamos un caso de un varón con diagnóstico de síndrome de MELAS mediante estudio genético que demostró la mutación A3243G de MELAS en el gen MT-TL1 del ADN mitocondrial. El paciente, además de las manifestaciones clásicas de la enfermedad, presentaba agitación psicomotriz, insomnio y alteraciones conductuales agudas con heteroagresividad, que, tras el ensayo de múltiples fármacos, únicamente lograron controlarse mediante la administración intravenosa de haloperidol, sin empeorar las manifestaciones neurológicas de la enfermedad. El presente caso evidencia que el empleo de haloperidol en el tratamiento agudo de las manifestaciones psiquiátricas de las enfermedades mitocondriales puede ser seguro y eficaz (AU)
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited disease characterised by an anomaly in the mitochondrial respiratory chain complex. Apart from encephalopathy, myopathy and stroke-like episodes, these patients can also develop psychiatric symptoms such as dementia, affective disorders, psychosis, and anxiety phenomena. Because of the low prevalence of this syndrome, there are few references about the management of its psychiatric comorbidity. In mitochondrial diseases, neuroleptic agents are not recommended because they have demonstrated in vitro toxicity over the mitochondrial respiratory chain. The case is presented of a patient with a diagnosis of MELAS syndrome confirmed by the detection of a A3243G mutation in the MT-TL1 gene encoding part of the mitochondrial DNA. This patient did not only show the classic manifestations of the disease, but also presented with psychomotor agitation, insomnia and behavioural disturbances with aggressiveness. Several drugs were ineffective, but intravenous haloperidol induced remission without worsening of the neurological manifestations. This case suggests that haloperidol may be safe and effective for the acute control of psychiatric symptoms in mitochondrial syndromes (AU)