Registro nacional de esclerosis lateral amiotrófica: prueba piloto, junio de 2015 a mayo de 2016 / Amyotrophic Lateral Sclerosis National Registry: Pilot Test, June 2015 to May 2016

INTRODUCCIÓN La esclerosis lateral amiotrófica (ELA) es una enfermedad neurodegenerativa, que causa el deterioro de las neuronas motoras superiores e inferiores y lleva a la muerte al 50% de los enfermos en los primeros 3 años posteriores al diagnóstico, siendo la más frecuente de estas condiciones en los adultos. Se estima que la tasa de incidencia de la ELA para todas las edades es de 1,6 personas por cada 100.000 habitantes, cifra que aumenta a 5 personas por cada 100.000 en la séptima década de la vida. La incidencia estimada en Argentina es de 2 por 100.000 habitantes por año, pero no existen cifras oficiales. La ELA no es una enfermedad de declaración obligatoria a nivel nacional, por cuya razón surge la necesidad de realizar un estudio que describa el comportamiento de la enfermedad en el país. OBJETIVOS A nivel general, desarrollar e implementar como prueba piloto el Registro Nacional de Esclerosis Lateral Amiotrófica (ReNELA) en Argentina. De manera específica, construir y consolidar una base de datos unificada para los efectores involucrados, realizar un análisis epidemiológico descriptivo de la base de datos construida y evaluar el registro y su alcance respecto de la población afectada en el período seleccionado. MÉTODOS Se elaboró un registro anónimo, que incluyó a pacientes vivos con residencia en el territorio nacional y diagnóstico de ELA basado en historias clínicas. El instrumento fue una base de datos construida para volcar los datos pertinentes al registro y analizarlos posteriormente. RESULTADOS Se logró construir una base con datos de 215 personas que padecen ELA. Dado que se estudió a la población alcanzada por la red de neurólogos y no fue posible tomar una muestra representativa, no cabe realizar inferencias estadísticas generalizables a la población del país. DISCUSIÓN Esta experiencia permitió identificar posibles factores que facilitarían la consolidación del registro y su continuidad para establecerse como una herramienta capaz de caracterizar epidemiológicamente la ELA en el país.

First ex vivo validation of a radioguided surgery technique with ß-radiation.

PURPOSE: A radio-guided surgery technique with ß(-)-emitting radio-tracers was suggested to overcome the effect of the large penetration of γ radiation. The feasibility studies in the case of brain tumors and abdominal neuro-endocrine tumors were based on simulations starting from PET images with several underlying assumptions. This paper reports, as proof-of-principle of this technique, an ex vivo test on a meningioma patient. This test allowed to validate the whole chain, from the evaluation of the SUV of the tumor, to the assumptions on the bio-distribution and the signal detection. METHODS: A patient affected by meningioma was administered 300MBq of (90)Y-DOTATOC. Several samples extracted from the meningioma and the nearby Dura Mater were analyzed with a ß(-) probe designed specifically for this radio-guided surgery technique. The observed signals were compared both with the evaluation from the histology and with the Monte Carlo simulation. RESULTS: we obtained a large signal on the bulk tumor (105cps) and a significant signal on residuals of ∼0.2ml (28cps). We also show that simulations predict correctly the observed yields and this allows us to estimate that the healthy tissues would return negligible signals (≈1cps). This test also demonstrated that the exposure of the medical staff is negligible and that among the biological wastes only urine has a significant activity. CONCLUSIONS: This proof-of-principle test on a patient assessed that the technique is feasible with negligible background to medical personnel and confirmed that the expectations obtained with Monte Carlo simulations starting from diagnostic PET images are correct.

A novel radioguided surgery technique exploiting ß(-) decays.

The background induced by the high penetration power of the radiation is the main limiting factor of the current radio-guided surgery (RGS). To partially mitigate it, a RGS with ß(+)-emitting radio-tracers has been suggested in literature. Here we propose the use of ß(-)-emitting radio-tracers and ß(-) probes and discuss the advantage of this method with respect to the previously explored ones: the electron low penetration power allows for simple and versatile probes and could extend RGS to tumours for which background originating from nearby healthy tissue makes probes less effective. We developed a ß(-) probe prototype and studied its performances on phantoms. By means of a detailed simulation we have also extrapolated the results to estimate the performances in a realistic case of meningioma, pathology which is going to be our first in-vivo test case. A good sensitivity to residuals down to 0.1 ml can be reached within 1 s with an administered activity smaller than those for PET-scans thus making the radiation exposure to medical personnel negligible.

A protective genetic variant for adverse environments? The role of childhood traumas and serotonin transporter gene on resilience and depressive severity in a high-risk population.

Genetic aspects may influence the effect of early adverse events on psychological well being in adulthood. In particular, a common polymorphism within the serotonin transporter gene (5-HTTLPR short/long) has been associated to the risk for stress-induced psychopathology. In the present study we investigated the role of childhood traumas and 5-HTTLPR on measures of psychological resilience and depression in a sample of individuals at a high risk for psychological distress (763 male prisoners). The 5-HTTLPR genotype did not influence resilience and depressive severity. However, a significant interaction was observed between 5-HTTLPR and childhood traumas on both resilience and depressive severity. In particular, among subjects exposed to severe childhood trauma only, the long-allele was associated to lower resilience scores and increased current depressive severity as compared to short/short homozygous. Sex specific effects, difference in type and duration of stressors and the specific composition of the sample may explain discrepancy with many studies reporting the short-allele as a vulnerability factor for reactivity to stress. We here speculated that in males the long-allele may confer lower resilience and therefore higher vulnerability for depressive symptoms in subjects exposed to early stress and currently living in stressful environments.

Malignant peritoneal mesothelioma: a multicenter study on 81 cases.

BACKGROUND: Malignant peritoneal mesothelioma (MPM) is a rare disease characterized by a difficult diagnosis, different types of presentation, variable course and poor prognosis. MATERIALS AND METHODS: Eighty-one patients with MPM observed in 14 Italian oncology institutions from 1982 to 2007 have been examined with the aim of delineating the history of MPM. RESULTS: Presentation symptoms were ascites, abdominal pain, asthenia, weight loss, anorexia, abdominal mass, fever, diarrhea and vomiting in various associations. Computed tomography scan and echotomography signs were ascites, abdominal mass and peritoneal thickening. Peritoneal fluid cytology (61 cases) was positive for mesothelioma in 31 and for malignancy, not mesothelioma, in 13. Laparoscopy was carried out in 40 cases and laparotomy in 36. Thrombocytosis was present in 59 cases. Associated tumors diagnosed during the lifetime were colorectal cancer in two cases and cheek carcinoma, thyroid carcinoma, tongue carcinoma, bladder carcinoma and testicular seminoma. Thirty patients were treated with surgery and 45 with chemotherapy. The median survival time from diagnosis is 13 months. Ascites, fever and vomiting were significative variables at presentation; only vomiting holds significance in a multivariate analysis. CONCLUSIONS: MPM is a disease with various types of presentation, frequently associated with thrombocytosis, sometimes with other tumors. Survival and diagnosis time can differ in various types of MPM. Prognosis is poor.