Current studies of patients with pulmonary arterial hypertension (PAH) have shown a
significant diagnostic delay. However, the causes and risk factors for this delay are not been …

Obiectives This study aims to prospectively evaluate the frequency and adverse
consequences of diagnostic delay and misdiagnosis in a cohort of patients with thrombotic …

Families with rare diseases (RDs) have unmet needs that are often overlooked by health
professionals. Describing these needs and the impact of the disease could improve their …

Many people living with rare disease (RD) report a difficult diagnostic process from the
symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to …

Standardised sex-adjusted prevalence ratios (SSPRs) have not been published for any
autoimmune diseases (ADs) in patients with Postural Orthostatic Tachycardia Syndrome …

Objectives (I) To identify and measure the clinical consequences of a delayed diagnosis in
patients with primary obstetric antiphospholipid syndrome (POAPS), in terms of time and …

Diffuse alveolar hemorrhage is a rare complication of antiphospholipid syndrome with high
mortality rates. Early diagnosis and treatment with steroids and immunosuppressive agents …

Abstract Background Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)
is a rare disease with diagnosis offered by the Unified Health System in Brazil. Our aim was …

El síndrome antifosfolípido (SAF) es una condición clínica cuya principal forma de
presentación es la trombosis de diversos lechos vasculares, llevando a múltiples …

Objetivo: exponer los factores de impacto social del síndrome antifosfolípido por su
incidencia en la calidad de vida de los pacientes. Métodos: se realizó la revisión de la …