Patient-specific iPSC-derived cellular models of LGMDR1.

Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain 3 gene, with over 500 mutations reported to date. However, the molecular events that lead to muscle wasting are not clear, nor the reasons for the great clinical variability among patients, and this has so far hindered the development of effective therapies. Here we generate human induced pluripotent stem cells (iPSCs) from skin fibroblasts of 2 healthy controls and 4 LGMDR1 patients with different mutations. The generated lines were able to differentiate into myogenic progenitors and myotubes in vitro and in vivo, upon a transient PAX7 overexpressing protocol. Thus, we have generated myogenic cellular models of LGMDR1 that harbor different CAPN3 mutations within a human genetic background, and which do not derive from muscular biopsies. These models will allow us to investigate disease mechanisms and test therapies. Despite the variability found among iPSC lines that was unrelated to CAPN3 mutations, we found that patient-derived myogenic progenitors and myotubes express lower levels of DMD, which codes a key protein in satellite cell regulation and myotube maturation.

Delirium por intoxicación por inhalantes: a propósito de un caso / Inhalant intoxication delirium: a case report

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El tiempo de psicosis no tratada como factor predictivo y pronóstico en el curso de los primeros episodios psicóticos / Duration of untreated psychosis as predictive and prognostic factor in the course of first episode psychosis

Introducción. El tiempo de psicosis no tratada ha estado en el punto de mira de numerosos artículos que intentan clarificar si podría resultar ser uno de los factores que condicionaría el pronóstico final de la enfermedad psicótica. Material y métodos. Presentamos un estudio realizado en 90 pacientes con un primer episodio psicótico que no habían tomado medicación previamente en el que se evaluaron los posibles factores pronósticos que influirían en la evolución de la enfermedad. A tal efecto se utilizó un protocolo que incluía las siguientes escalas: PANSS, escala de valoración global de estrés psicosocial (DSM IIIR), evaluación de actividad global (GAF-EEAG), impresión clínica global (ICG), escala de Montgomery-Asberg para la depresión, escala de manía de Young, escala de movimientos anormales, escala UKU para síntomas extrapiramidales y la escala de ajuste premórbido (Cannon-Spoor). El seguimiento se realizó durante 1 año con evaluaciones cada 3 meses. Resultados. Tras el análisis estadístico de los datos se concluyó que un tiempo de psicosis prolongado no se asociaba en nuestra muestra a una peor evolución de la enfermedad. Los únicos factores relacionados con dicho pronóstico resultaron ser el ajuste premórbido y el tipo de comienzo de la enfermedad. Así, pacientes con un mejor ajuste premórbido y un inicio de enfermedad agudo presentaban una mejor evolución. Conclusiones. Nuestro trabajo muestra una evidencia más en favor de la independencia del pronóstico final y el tiempo de psicosis sin tratar

Introduction. Recently, many studies have focused on the duration of untreated psychosis (DUP) in order to clarify if DUP could be one of the factors that would influence prognosis of psychotic disease. Material and methods. We present a one year follow - up study with 90 medication native, first episode psychotic patients. The likely prognosis factors that could influence in the outcome of the disease were measured. Therefore, we used a protocol including the following scales: PANSS, Psychosocial Stress Global Assessment scale (DSM IIIR), Global Assessment of Functioning scale (GAF-EEAG), Clinical Global Impression (CGI), Montgomery-Asberg scale for the depression, Young mania rating scale, abnormal involuntary movements scale, UKU scale for extrapyramidal symptoms and Premorbid Adjustment scale (Cannon-Spoor). Assessments were made every three months for 1 year. A statistical analysis of data was performed. Results. As a result, it was concluded that there was no relationship between a long duration untreated psychosis and a worse outcome of the illness in our sample. The only related factors with the prognosis were premorbid adjustment and the type of disease onset. Hence, the patients with a better premorbid adjustment and an acute onset of psychosis had a better outcome. Conclusion. Our study represents more evidence in favor of the independence of DUP and disease outcome

Alternativas para el tratamiento del síndrome de discontinuación con los nuevos antidepresivos / Alternatives in the management of discontinuation syndrome with new antidepressant

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[Hodgkin's disease. Our 9-year experience with the 1980 protocol]. / Enfermedad de Hodgkin. Nuestra experiencia de neuve años con el protocolo de 1980.

The purpose of this work was to evaluate the therapeutic results attained with our 1980 protocol for Hodgkin's disease. The usefulness of staging laparotomy was also analysed. Along a 9-year period, 94 patients were diagnosed (stages IA and IIA: 26 cases, IB, IIB and IIIA: 24 cases, and IIIB and IV: 44 cases). The complete remission (CR) rate, as a whole, was 85%; there were 14 relapses, of whom a new CR was attained in 9 instances. The overall actuarial survival is 64% at 47 months. The appearance of 3 cases of acute non-lymphoblastic leukaemia is noteworthy. Laparotomy induced changes of the patient's staging in 49% of cases (rise in 43% and descent in 6%). In account of this, laparotomy seems an adequate procedure in staging, although the criteria for selecting the patients who will undergo this, procedure should be perhaps restrictive.