Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid. Deposition of excess homogentisic acid in different intra- and extra-articular structures with high content of connective tissue causes brownish-black pigmentation and weakening, ultimately resulting in tissue degeneration and finally osteoarthritis. Ochronotic arthropathy is considered a rapidly progressive, disabling condition in which weight-bearing joints and the thoracolumbar spine are predominantly affected. Patients often require multiple joint replacements, such as in the case of the patient presented here. At present, there is no definitive cure for ochronosis, and management is predominantly symptomatic.
BackgroundInterstitial lung disease (ILD) is a common complication of Systemic Sclerosis (SSc) and frequently may be cause of death of patients. High resolution computed tomography (HRCT) is the reference imaging tool for the assessment of ILD; however, its use may be limited for both ionising radiation and costs. In this way, pulmonary ultrasound (US) is revealing interesting potential in the assessment of ILD.ObjectivesTo determine the validity of pulmonary US in detecting subclinical ILD in SSc and to determine its predictive value for detecting disease progression.MethodsWe included 133 SSc patients≥18 years-old without respiratory symptoms. Individuals with previous diagnosis of ILD or other pulmonary diseases were excluded. A rheumatologist performed the Borg scale dyspnea index, Rodnan skin score (RSS) and lung auscultation to confirm the subclinical respiratory status. Chest X-ray and respiratory function tests (RFT) were performed the same day in all patients. US was performed by a rheumatologist expert who was blinded to clinical assessment. To determine the concurrent validity HRCT was performed. Finally, serologic tests (anti-centromere, anti-Scl70) were obtained. HRCT findings were scored according to Warrick score, whereas US findings were classified according the previously proposed semiquantitative scale (0=normal,≤5 B-lines; 1=slight,≥6 and≤15 B-lines; 2=moderate,≤16 and≥30 B-lines; 3=severe,≥30 B-lines). In order to evaluate the inter-observer reliability, 50% of patients were assessed by 2 rheumatologists with different experience in US; both blinded to clinical data. A healthy control group matched for age and gender was included.A follow-up including US, RFT and Borg scale was done every 3 months until 12 months.ResultsA total of 54 of 133 patients (40.6%) showed US signs of ILD in contrast to healthy controls (4.8%) (p=0.0001). The clinical and laboratory variables associated with ILD were: anti-centromere antibodies (p=0.005), Borg scale(p=0.004) and RSS(p=0.004). A positive correlation was demonstrated between the US and HRCT findings (p=0.001), confirmed also with the Chi square test (p=0.006). No association was shown with gender, age, disease duration, chest X-ray or RFT.Sensitivity and specificity of US in detecting ILD was 91.2% and 88.6% respectively. A Moderate inter-observer reliability of US findings was observed (kappa 0.50).In follow-up, a total of 30 patients (22.6%) that demonstrated ILD during first evaluation, showed US worsening in their ILD status. Interestingly, 9 of those 30 patients (30%) became symptomatic by the Borg scale. The elapsed time in which progression of ILD or clinical conditions was documented was between 6 and 9 months of follow-up.ConclusionsUS showed a high prevalence of subclinical ILD in SSc patients. It demonstrated to be a valid, reliable and feasible tool to detect ILD in SSc and to follow-up its evolution. On the basis of our results we believe that US can be implemented as a screening tool for diagnosis of subclinical ILD in SSc.Disclosure of Inte...
Introducción: La artritis reumatoide es una enfermedad autoinmune, crónica, degenerativa. Su control está relacionado con la medicación y los factores ambientales, especialmente los estilos de vida, que son potencialmente modificables. Objetivo: Determinar el perfil del estilo de vida de las personas con artritis reumatoide y su relación con el grado de actividad de la enfermedad. Metodología: Estudio descriptivo, transversal y correlacional en adultos con artritis reumatoide. Con previo consentimiento informado, se aplicó clinimetría basada en el nivel de actividad de la enfermedad (DAS28) y el Perfil de Estilos de Vida (PEPS-II) de Nola J. Pender. Para el análisis se recurrió a la estadística descriptiva, correlación de Spearman. Se utilizó el paquete estadístico SPSS versión 22. Resultados: Se valoraron 110 personas, el promedio global del estilo de vida se ubica en un perfil saludable, la dimensión actividad física se clasificó como la más afectada (85.5%). No se encontró correlación entre la actividad de la enfermedad y estilo de vida. Discusión: Existen pocos estudios análogos, los resultados primordiales de estos coinciden con los encontrados. Se hace evidente la necesidad de seguir trabajando en los estilos de vida para lograr disminuir la presencia de actividad inflamatoria en las personas con artritis reumatoide. Conclusiones: No existe una correlación entre las dos variables, es decir, a medida que el perfil de estilo de vida es saludable, la actividad inflamatoria de la enfermedad está activa.
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