ABSTRACT
TITLE: Miopatía de Bethlem: cuando el fenotipo confunde.
Subject(s)
Contracture/diagnosis , Muscular Dystrophies/congenital , Adipose Tissue/diagnostic imaging , Adipose Tissue/pathology , Adult , Age of Onset , Amino Acid Substitution , Collagen Type VI/genetics , Contracture/complications , Contracture/genetics , Heterozygote , Humans , Magnetic Resonance Imaging , Male , Muscle Weakness/etiology , Muscular Atrophy/diagnostic imaging , Muscular Atrophy/etiology , Muscular Dystrophies/complications , Muscular Dystrophies/diagnosis , Muscular Dystrophies/genetics , Mutation, Missense , Phenotype , Point Mutation , Talipes Cavus/geneticsABSTRACT
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Subject(s)
Humans , Male , Adult , Brain Diseases/chemically induced , Brain Diseases/diagnosis , Suicide, Attempted , Lamotrigine/toxicityABSTRACT
INTRODUCTION: To assess the management of immunocompetent patients with primary central nervous system lymphomas (PCNSL) in Spain. METHODS: Retrospective analysis of 327 immunocompetent patients with histologically confirmed PCNSL diagnosed between 2005 and 2014 in 27 Spanish hospitals. RESULTS: Median age was 64 years (range: 19-84; 33% ≥ 70 years), 54% were men, and 59% had a performance status (PS) ≥ 2 at diagnosis. Median delay to diagnosis was 47 days (IQR 24-81). Diagnostic delay > 47 days was associated with PS ≥ 2 (OR 1.99; 95% CI 1.13-3.50; p = 0.016) and treatment with corticosteroids (OR 2.47; 95% CI 1.14-5.40; p = 0.023), and it did not improve over the years. Patients treated with corticosteroids (62%) had a higher risk of additional biopsies (11.7% vs 4.0%, p = 0.04) but corticosteroids withdrawal before surgery did not reduce this risk and increased the diagnostic delay (64 vs 40 days, p = 0.04). Median overall survival (OS) was 8.9 months [95% CI 5.9-11.7] for the whole series, including 52 (16%) patients that were not treated, and 14.1 months (95%CI 7.7-20.5) for the 240 (73.4%) patients that received high-dose methotrexate (HD-MTX)-based chemotherapy. Median OS was shorter in patients ≥ 70 years (4.1 vs. 13.4 months; p < 0.0001). Multivariate analysis identified age ≥ 65 years, PS ≥ 2, no treatment, and cognitive/psychiatric symptoms at diagnosis as independent predictors of short survival. CONCLUSIONS: Corticosteroids withdrawal before surgery does not decrease the risk of a negative biopsy but delays diagnosis. In this community-based study, only 73.4% of patients could receive HD-MTX-based chemotherapy and OS remains poor, particularly in elderly patients ≥ 70 years.