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Purpose: To describe a clinical case of toxic optic neuropathy with severe visual loss caused by inhalation abuse of methanol products. Method: A 25-year-old male student was admitted to the emergency department with an acute bilateral visual loss and headaches, nausea, and cold sweats. A complete clinical and ophthalmologic examination was performed. Results: On ophthalmic examination, visual acuity (VA) was light perception in the right eye (RE) and no light perception in the left eye (LE). Pupillary examinations demonstrated dilated, non-reactive pupils. An arterial blood gas analysis showed systemic metabolic acidosis with a pH of 7.23 and Gap anion elevated. Consequently, these results were enough to provide a substantial suspicion of methanol toxicity and start the treatment. 72 hours after, he confessed that he had been inhaling methanol-based solvent for eight years. Conclusions: Methanol-induced toxicity can cause a non-reversible toxic optic neuropathy. Blood acidemia with Gap anion elevated and a suspicious fundus ophthalmic examination allows a fast diagnosis. A quick treatment based on dialysis, intravenous ethanol, sodium bicarbonate, vitamin B12, and intravenous methylprednisolone slows the secondary intoxication damages. We presented herein a procedure to identify and manage toxic optic neuropathy caused by methanol inhalation. Abbreviations: VA = Visual Acuity, RE = right eye, LE = left eye, OCT = Optical Coherence Tomography, RNFL = Retinal Nerve Fiber Layer, CT = computed tomography, MRI = magnetic resonance imaging, VEPs = visual evoked potentials.

Background Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at risk of developing bone crisis during therapy and late complications such as cancer or parkinsonism. The Spanish Gaucher Disease Registry has worked since 1993 to compile demographic, clinical, genetic, analytical, imaging and follow-up data from more than 400 patients. The aims of this study were to discover correlations between patients’ characteristics at diagnosis and to identify risk features for the development of late complications; for this a machine learning approach involving correlation networks and decision trees analyses was applied. Results A total of 358 patients, 340 type 1 Gaucher disease and 18 type 3 cases were selected. 18% were splenectomyzed and 39% had advanced bone disease. 81% of cases carried heterozygous genotype. 47% of them were diagnosed before the year 2000. Mean age at diagnosis and therapy were 28 and 31.5 years old (y.o.) respectively. 4% developed monoclonal gammopathy undetermined significance or Parkinson Disease, 6% cancer, and 10% died before this study. Previous splenectomy correlates with the development of skeletal complications and severe bone disease (p = 0.005); serum levels of IgA, delayed age at start therapy (> 9.5 y.o. since diagnosis) also correlates with severe bone disease at diagnosis and with the incidence of bone crisis during therapy. High IgG (> 1750 mg/dL) levels and age over 60 y.o. at diagnosis were found to be related with the development of cancer. When modelling the decision tree, patients with a delayed diagnosis and therapy were the most severe and with higher risk of complications. Conclusions Our work confirms previous observations, highlights the importance of early diagnosis and therapy and identifies new risk features such as high IgA and IgG levels for long-term complications.

Background Gaucher disease (GD), caused by a deficiency in acid β-glucosidase, leads to the accumulation of glucosylsphingosine (GluSph), which has been used as a powerful biomarker for the diagnosis and follow-up of GD. Our aim was to perform the first retrospective study of GluSph in Spanish patients, analyzing its relationship with classical biomarkers and other parameters of disease and its utility regarding treatment monitoring. Methods Classical biomarkers were evaluated retrospectively by standard methods in a total of 145 subjects, including 47 GD patients, carriers, healthy controls and patients suffering from other lysosomal lipidoses. GluSph was also measured using a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method developed as part of the present study. Results The optimized method presented intra- and inter-assay variations of 3.1 and 11.5%, respectively, overall recovery higher than 96% and linearity up to plasma concentrations of 1000 ng/mL with 100% specificity and sensitivity. Only GD patients displayed GluSph levels above 5.4 ng/mL at diagnosis and this was significantly correlated with the classical biomarkers chitotriosidase (r = 0.560) and the chemokine CCL18/PARC (CCL18/PARC) (ρ = 0.515), as well as with the Spanish magnetic resonance imaging index (S-MRI, r = 0.364), whereas chitotriosidase correlated with liver volume (r = 0.372) and CCL18/PARC increased in patients with bone manifestations (p = 0.005). GluSph levels decreased with treatment in naïve patients. Conclusions Plasma GluSph is the most disease-specific biomarker for GD with demonstrated diagnostic value and responsiveness to therapy. GluSph in the present series of patients failed to demonstrate better correlations with clinical characteristics at onset than classical biomarkers.

Suicidability has been associated with neuroticism and psychoticism, but its role during perinatal period has not been analyzed. We explore the association between personality dimensions, depressive symptoms, and other psychosocial variables in postpartum suicidal ideation. A cohort of 1795 healthy Spanish women from the general population was assessed for suicidal ideation (EPDS-Item10) in early postpartum, 8 and 32 weeks postpartum. Sociodemographic, obstetric, and reproductive variables, psychiatric history, social support, stressful life-events during pregnancy, depressive symptoms (EPDS), and the Eysenck's personality dimensions (EPQ-RS) were also assessed at baseline. A major depressive episode (DSM-IV) was confirmed in women with EPDS>10 at follow-up assessments. Descriptive, bivariate, and multivariate analyses were conducted. Adjusted logistic regression analysis was reported as odds ratio (ORs) with 95% confidence intervals (CIs). Seven percent of mothers reported suicidal ideation during the first 8 months postpartum. Sixty-two percent of women with suicidal ideation had a major depressive episode at 8 weeks, and 70% at 32 weeks postpartum. Neuroticism and psychoticism predicted suicidal ideation throughout the first 2 weeks after delivery (OR, 1.03; 95%CI 1.01-1.06; and OR, 1.03; 95%CI 1.01-1.05 respectively). Early postpartum depressive symptoms (OR 1.2; 95%CI 1.11-1.26), personal psychiatric history (OR 2.1; 95%CI 1.33-3.27), and stressful life events during pregnancy (OR 1.88; 95%CI 1.12-3.16) also emerged as predictors of postpartum suicidal ideation. Analysis of women for postpartum suicidal ideation should include not only psychiatric symptoms but also psychosocial assessment (i.e., covering psychiatric history, stressful events, or long-standing personality vulnerabilities) in order to identify those in need of early psychosocial or psychiatric care.

Objective: Anatomical analysis of the hips and pelvis was performed using MRI to evaluate morphological characteristics and associations between them. We identified correlations between the ischiofemoral space (IFS), quadratus femoris space (QFS), femoral version angle (FVA) and cervicodiaphyseal angle (CDA). Methods: This study involved a retrospective search of a database of consecutive reports of adult hip MRI examinations carried out between January and September 2016. Patients with a medical history likely to affect pelvic and hip morphometry were excluded. Results: A total of 137 adult patients were enrolled in the study (45.3% males and 54.7% females), with a mean age of 50.16 ± 13.87 years. The mean IFS was 20.88 ± 5.96 mm, mean QFS was 15.2 ± 6.18 mm, mean FVA was 12.43 ± 6.98, and mean CDA was 121.27 ± 4.6°. The IFS measurements were significantly correlated with femoral measurements (p = 0.025). These visible differences showed a slight negative relationship (−0.191), and females had a smaller distance between these anatomical structures than males (p < 0.001). Females had a significantly smaller QFS than males (12.42 ± 5.94 vs 18.73 ± 4.48 mm, p = 0.000). There was a small but significant positive relationship between CDA and FVA (p = 0.022), with a correlation coefficient of 0.195. Conclusion: A higher FVA was correlated with a smaller IFS. Furthermore, an increase in the CDA appeared in tandem with an increase in the FVA. Advances in knowledge: A single conventional MRI sequence can alert us to how anatomical factors could predispose individuals to a decrease in IFS.

Background Chronic fatigue (CFg) is a prevalent symptom in Gaucher disease (GD) at diagnosis (79%) and remains in a quarter of patients after years of therapy. Bone abnormalities are present in over 70% and peripheral neuropathy in about 11% of the patients, which contributes to the disabling and debilitating complications. Our hypothesis is that other factors such as muscle-tendinous weakness could have influence in the development of CFg. Methods We have evaluated the fiber structure and elasticity of muscle-tendinous unit by strain-elastography (S-ELA) and analyzed their influence in the CFg. S-ELA study was performed in Achilles tendon in 25 type 1 and two type 3 GD patients, all of them with fatigue and were on enzymatic replacement therapy for mean 13 years; simultaneously, bone marrow burden by MRI and calcaneus ultrasound densitometry were evaluated. Blood cell counts, plasma biomarkers, GBA1 genotyping, and SF36 quality of life scale (QoL) were also performed. Statistical analysis: descriptive and comparative test. Results All patients showed a normal Achilles tendinous structure. Abnormal stiff grade 2–3 was found in 17/27 (62.9%); in 11/27 (40.7%) of patients, the alteration was bilateral. There were no correlations between the S-ELA results to other variables; nevertheless, a significant correlation between the degree of tendon hardness and the low score on the QoL scales (p = 0.0035) was found. The S-ELA is a sensitive painless, fast, and low cost method to detect muscle-tendinous subclinical dysfunction that could contribute to CFg in GD. The identification of subclinical tendon alteration would be a sign of alarm, focused on the risk of development of bone complications. Conclusion Intratendinous alteration in strain-elastography is an independent variable in GD patients with persistent fatigue.

Background This study aimed at assessing the effectiveness and safety of repeated administrations of allogeneic bone marrow-derived mesenchymal stem cells (BM-MSCs) primed with tumor necrosis factor (TNF)-α and interferon-γ in an equine model of chemically-induced osteoarthritis. Arthritis was induced in both radio-carpal (RC)-joints by amphotericin-B in 18 ponies, divided into three groups depending on the treatment injected: MSC-naïve (n = 7), MSC-primed (n = 7) and control (n = 4). The study consisted of two phases and used one RC-joint of each animal in each phase, with four months time-lapse, in order to assess two end-points. Clinical, synovial, radiological and ultrasonographic follow-up was performed. At six months, animals were euthanized and both carpi were assessed by magnetic resonance imaging (MRI), gross anatomy, histopathology, histochemistry and gene expression. Results Clinical and synovial inflammatory signs were quicker reduced in MSC-treated groups and repeated allogeneic administration did not produce adverse reactions, but MSC-primed group showed slight and transient local inflammation after second injection. Radiology and MRI did not show significant differences between treated and control groups, whereas ultrasonography suggested reduced synovial effusion in MSC-treated groups. Both MSC-treated groups showed enhanced cartilage gross appearance at two compared to six months (MSC-naïve, p

The potential therapeutic utility of estrogens in schizophrenia is increasingly being recognized. Raloxifene, a selective estrogen receptor modulator, appears to act similarly to estrogens on dopamine and serotonin brain systems. One previous trial by our team found that raloxifene was useful to improve negative, positive, and general psychopathological symptoms, without having the negative side effects of estrogens. In this study, we assess the utility of raloxifene in treating negative and other psychotic symptoms in postmenopausal women with schizophrenia exhibiting prominent negative symptoms. This was a 24-week, randomized, parallel, double-blind, placebo-controlled study. Patients were recruited from the inpatient and outpatient departments of Parc Sanitari Sant Joan de Deu, Hospital Universitari Institut Pere Mata, and Corporacio Sanitaria Parc Tauli. Seventy postmenopausal women with schizophrenia (DSM-IV) were randomized to either adjunctive raloxifene (38 women) or adjunctive placebo (32 women). Psychopathological symptoms were assessed at baseline and at weeks 4, 12, and 24 with the Positive and Negative Syndrome Scale (PANSS) and the Scale for the Assessment of Negative Symptoms (SANS). The addition of raloxifene (60mg/d) to regular antipsychotic treatment significantly reduced negative (P = .027), general (P = .003), and total symptomatology (P = .005) measured with the PANSS during the 24-week trial, as compared to women receiving placebo. Also Alogia SANSS subscale improved more in the raloxifene (P = .048) than the placebo group. In conclusion, raloxifene improved negative and general psychopathological symptoms, compared with antipsychotic medication alone, in postmenopausal women with schizophrenia. These data replicate our previous results with a larger sample and a longer follow-up. Trial registration: {"type":"clinical-trial","attrs":{"text":"NCT01573637","term_id":"NCT01573637"}}NCT01573637.

Objective: In this study, we assessed the efficacy of 2 pharmacodynamically different antidepressants, citalopram (a selective serotonin reuptake inhibitor) and reboxetine (a norepinephrine reuptake inhibitor), as adjunctive therapy to risperidone and olanzapine for the treatment of negative symptoms in schizophrenia. Method: We performed a 6-month, multicenter, double-blind, randomized, placebo-controlled clinical trial. The recruitment period was from November 2008 to December 2011. The sample comprised 90 patients with a diagnosis of schizophrenia (DSM-IV criteria) who exhibited negative symptoms. The patients were recruited from 10 centers in different cities of the Spanish State. The primary efficacy measure was change in score on the negative subscale of the Positive and Negative Syndrome Scale (PANSS) between baseline and 6-month assessment. Other efficacy measures were changes in the PANSS subscales and total score, as well as the Scale for the Assessment of Negative Symptoms (SANS) subscales and total score. Results: For statistical analysis, we employed mixed-effects models. We did not find statistically significant differences between the placebo group and the 2 treatment groups at 6-month assessments for the PANSS total (P = .6511), any PANSS subscale (negative [P = .5533], positive [P = .1723], or general psychopathology [P = .2083]), or the SANS (P = .5884). Cohen d measure showed a small effect size below the 0.5 threshold for all comparisons. Conclusions: In conclusion, our results do not support adjunctive use of citalopram or reboxetine with risperidone or olanzapine for the treatment of negative symptoms in schizophrenia. (C) Copyright 2014 Physicians Postgraduate Press, Inc.

Introduction Type 1 Gaucher disease (GD)(OMIM # 230800), has a pan-ethnic distribution, in Spain its prevalence is about 1/100,000. Since more than twenty years the impact of therapies in the awareness of the disease is changing the characteristics and expectations of patients. The Spanish Gaucher disease Registry (SGDR) is working since 1993 and compiled demographic, clinical, genetic, analytical and imaging data about 360 type 1 GD Spanish patients. The application of new high computing capacity and powerful network analysis to analyze the registered data could provide a visualization tool and allows to extract knowledge from complex and very numerous relationships. The objective of this analysis is to discover useful ideas and new correlations to predict the risk of developing late complications and to extract knowledge of complex and very numerous relationships. Patients & Methods From 416 patients included in the SGDR we have selected 358 with more than 70% of data and follow-up. GD type 2 patients have been excluded. The variables included in the database at diagnosis: demographic data and the clinical, analytical and imaging information at diagnostic and during the treatment follow-up as well as comorbidities. With Kampal Data Solutions, a spin-off company of the University of Zaragoza dedicated to the development of computer applications and advanced data analytics, this company has experience in the homogenization of information and in the elaboration of classic and advanced statistics projects, as well as in the visualization of said information complex network techniques and the relationship between variables and model designs.Variables:Birthdate, age at diagnosis, gender, death date, severity category of disease (mild, moderate, severe), concomitant diseases, Parkinson disease in relatives, liver volume, spleen volume, spleen removal, bone disease, S-MRI, DEXA, chitotriosidase, CCL18/PARC, lyso Gb1, B12 vitamin level, iron concentration, ferritin, cholesterol, triglycerides, HDL-cholesterol, LDL-cholesterol, AST, ALT, GGT, acid phosphatase, bilirubin, hemoglobin concentration, Hsc, WBC count, platelets count, serum gammaglobulin fraction, IgG, IgA, IgM, GBA activity, GBAgenotype, CHIT1genotype, age to start therapy, type of therapy (ERT, SRT), new bone crisis or joint replacement, development of malignancies or Parkinson disease. Results: The 358 subjects were mostly GD1 (340 vs 18 GD3), 18% were splenectomized and 39% have advanced bone disease and bone complications. Most of the patients have a complex heterozygous genotype (81% vs 19% homozygous). 47% of patients were diagnosed before 2,000 and 10% die before this study. Most of them are receiving ERT (54%). About comorbidities, 4% of patients developed MGUS or Parkinson disease and 6% malignant neoplasias. The main results have founded a significant correlation between skeletal complications and impaired and spleen removal (p=0.0005); this fact confirm previous reports. In this study a low IgA serum level shows a significant correlation with severe bone disease(p=0.0000), and with the incidence of new bone crisis during long term ERT. A IgG increase was related to the development of neoplasia. There were two more important factors that we have found; the age at diagnosis and the age to start therapy. Comments: Registries are key resources to help increasing timely and accurate diagnosis, improving patient's management, tailoring treatments, facilitating clinical trials, supporting healthcare planning and speeding up research. This is the very first attempt to establish a correlation network among different biomarkers and clinical characteristics in a national base cohort. As has been hypothesized seems that the impairment of immune system has a strong impact in long term complications, in our study the humoral immunity dysfunction pops up as an important factor. Despite of our short cohort, the quality of data is accurate and can reflect the own Spanish Gaucher disease characteristics. Currently we are working in the design of algorithms to help to predict patient outcomes. Disclosures No relevant conflicts of interest to declare.

We report on a 61-year-old postmenopausal female with schizophrenia included in a raloxifene vs. placebo clinical trial and monitored during a 12-month period including a 3-month withdrawal period (6-9 months) without treatment. The patient was treated with raloxifene 60 mg/day adjuvant to antipsychotic medication for 6 months, medication was then withdrawn for 3 months and was reintroduced due to a worsening of symptoms. We assessed the patient with PANSS and other neuropsychological tests. The patient improved in psychopathology and cognitive level in some aspects related to executive functions. During 3 months without the drug, the patient's condition deteriorated. When the drug was reintroduced, improvements were again observed. Raloxifene may be useful as an adjuvant treatment for psychopathological symptoms and some cognitive aspects in women with chronic schizophrenia.

Numerous studies have indicated that thought disorganization in schizophrenia is associated with an enhanced semantic priming effect. This suggests abnormal functioning of the semantic network in these patients, with disinhibited spreading of semantic activation. We investigated whether thought disorganization is also associated with atypical responses in the production of semantic category exemplars. An exemplar production task was administered to 43 patients with schizophrenia and 24 healthy controls. The names of 16 semantic categories were provided, and the participants were requested to produce an exemplar for each category. The typicality of the response was rated according to norms. Higher ratings of thought disorganization were associated with the production of more atypical exemplars. In addition, the patients with high thought disorganization scores were significantly more atypical in their responses than were the healthy controls. In contrast, the patients with low thought disorganization scores were equivalent to the healthy controls. Higher ratings of affective flattening were associated with the production of less atypical exemplars. The results corroborate, within a different paradigm than semantic priming, the theory that thought disorganization is associated with faster and more distant connections within the semantic network. This effect is counteracted by affective flattening.

Bone effects are the most frequent cause of disability in Gaucher disease (GD). Magnetic resonance imaging (MRI) has improved the study of bone involvement making it possible to measure the extent of infiltration and to identify localized complications and other lesions. Here we describe the results of our analysis of all bone lesions registered in MRI studies performed in our GD Clinic. A retrospective study was undertaken for all patients with types 1 and 3 GD who underwent MRI evaluation and correlated with clinical, molecular, and other follow-up information obtained from the Spanish GD Registry. 350 MRI studies of 131 GD patients were reviewed (males 53.4%). Mean age: 37.5years (range 13-74yr), 94.6% (124) were GD1 patients. 113/131 (86.3%) of patients presented with at least one bone effect (bone infiltration, bone crisis, avascular necrosis) were 79.4%, while 28.8% showed another bone lesion such as neuronopathic-like arthropathy, hemangioma, other ischemic phenomena, infection-related lesions, secondary neoplasia and tissue infiltration. MRI is a routinely-used tool for the evaluation of GD lesions which improves the assessment of patients before and during therapy, identifies GD complications and finds other concomitant lesions. This work provides a new evaluation of MRI assessment in this complex rare disease.

Objective We aimed to study the relationship between hyperprolactinemia (HPRL) and sexual dysfunction (SED) in a sample of patients being prescribed a dose-stable antipsychotic medication, and to evaluate sex differences in the prevalence of HPRL and SED and their relationship. Method A cross-sectional study was carried out including patients between 18 and 55 years of age with a psychotic spectrum diagnosis who were attending community mental health services or hospitalized in medium and long stay units. Positive and Negative Syndrome scale, Calgary depression scale for schizophrenia, Personal and Social Performance scale, and Changes in Sexual Functioning questionnaire-short form were administered. Not later than 3 months, a determination of prolactin, follicle-stimulating hormone, luteinizing hormone, estrogen (only in women) and testosterone was performed. Results A final sample of 101 patients (30 women and 71 men) was recruited. Seventy-two patients (71.3%) showed HPRL. Sexual dysfunction was significantly higher in HPRL patients than in non-HPRL patients (79.17% vs 51.72%) (P = 0.006), and mean prolactin values were significantly higher in case of SED (P = 0.020). No sex differences were found in prevalence of HPRL or SED. Low Personal and Social Performance scale scores and HPRL were factors independently associated with SED, whereas alcohol use was an independent protector factor. Conclusions In our study, SED was significantly related to HPRL without showing sex differences. Prevalence of HPRL and SED observed was higher than that in previous studies, which should be taken into consideration because these have been associated with higher morbimortality, and noncompliance and relapse, respectively.

The aim of this paper is to present a treatment for scars based on percutaneous traction. This is a structural technique in which movements are performed against the barriers detected in different planes. The stages of this technique are described in detail along with the results after applying it to a postarthroscopic scar on a knee. The active and passive mobility of femoro-tibial and femoro-patellar articulations improved substantially after the treatment, as verified by signs such as pain relief, greater flexibility, disappearance of inflammation and a major recovery of tissue elasticity. A sonoelastography study of the portals and patellar tendon was carried out before and after therapy, showing semiquantitatively the recovery of the viscoelastic properties of the tissue.

The potential therapeutic utility of estrogens in schizophrenia is increasingly being recognized. Raloxifene, a selective estrogen receptor modulator, appears to act similarly to estrogens on dopamine and serotonin brain systems. One previous trial by our team found that raloxifene was useful to improve negative, positive, and general psychopathological symptoms, without having the negative side effects of estrogens. In this study, we assess the utility of raloxifene in treating negative and other psychotic symptoms in postmenopausal women with schizophrenia exhibiting prominent negative symptoms. This was a 24-week, randomized, parallel, double-blind, placebo-controlled study. Patients were recruited from the inpatient and outpatient departments of Parc Sanitari Sant Joan de Déu, Hospital Universitari Institut Pere Mata, and Corporació Sanitària Parc Taulí. Seventy postmenopausal women with schizophrenia (DSM-IV) were randomized to either adjunctive raloxifene (38 women) or adjunctive placebo (32 women). Psychopathological symptoms were assessed at baseline and at weeks 4, 12, and 24 with the Positive and Negative Syndrome Scale (PANSS) and the Scale for the Assessment of Negative Symptoms (SANS). The addition of raloxifene (60 mg/d) to regular antipsychotic treatment significantly reduced negative (P = .027), general (P = .003), and total symptomatology (P = .005) measured with the PANSS during the 24-week trial, as compared to women receiving placebo. Also Alogia SANSS subscale improved more in the raloxifene (P = .048) than the placebo group. In conclusion, raloxifene improved negative and general psychopathological symptoms, compared with antipsychotic medication alone, in postmenopausal women with schizophrenia. These data replicate our previous results with a lar

Resumen La exposicion tiene por objeto repasar los mecanismos fisiopatologicos de la afectacion de medula osea y modelos de infiltracion medular por celulas de Gaucher. Se revisan los diferentes metodos de valoracion de la infiltracion medular y su desarrollo temporal. Los metodos cualitativos incluyen radiografia simple, resonancia magnetica (RM), tomografia computarizada (TC) y radioisotopos. La radiografia simple es el elemento basico, pero su sensibilidad es escasa y solamente permite valorar las alteraciones trabeculares y de remodelacion osea. La RM permite apreciar la infiltracion medular, la deteccion de complicaciones y la respuesta a la terapia. Los radioisotopos pueden contribuir al diagnostico diferencial de osteomielitis y crisis oseas. Entre los metodos cuantitativos estan el QCSI (quantitative chemical shift imaging) y la absorciometria de rayos X de doble energia (DEXA, dual-energy X-ray absorptiometry ), ademas de las nuevas tecnicas de TC, densitometria por ultrasonidos y RM cuantitativas. El QCSI realiza una valoracion del contenido graso de la medula osea, en la columna vertebral. La DEXA cuantifica la densidad osea midiendo el coeficiente de atenuacion. Los metodos semicuantitativos presentan diversos “scores”, para establecer unos criterios de afectacion osea generalizada y criterios de valoracion de progresion de la enfermedad y respuesta a la terapia.

Resumen La enfermedad de Gaucher (EG) se produce por el deficit de la enzima beta-glucocerebrosidasa, lo que provoca el acumulo del compuesto glicolipidico en las celulas del sistema monocito-macrofago. Hay 3 tipos: el tipo 1 se corresponde con las manifestaciones principalmente viscerales, que son muy variables. En los pacientes que presentan los tipos 2 y tipo 3 se ve afectado el sistema nervioso central. Se han descrito mas de 300 mutaciones en el gen que codifica esta enzima, lo que en parte explica su heterogeneidad fenotipica. En 1991 se comercializo el primer tratamiento de sustitucion enzimatica (TSE): la alglucerasa, obtenida de tejido placentario humano y que supuso una revolucion en el tratamiento de los pacientes con EG sintomatica. Cinco anos mas tarde, la alglucerasa habia demostrado su seguridad y eficacia en los objetivos terapeuticos de la enfermedad: recuperacion de las concentraciones de hemoglobina y plaquetas, reduccion del volumen del bazo y del higado; sin embargo, debido al gran tamano de la molecula, que no permite atravesar la barrera hematoencefalica, el tratamiento se demostro incapaz para reducir los sintomas y signos neurologicos. Posteriormente se introdujo la enzima recombinante imiglucerasa, que sustituyo rapidamente a la alglucerasa como tratamiento estandar de la EG. En los ultimos anos se han definido los objetivos del tratamiento como: normalizacion de recuentos celulares; reduccion del volumen hepatico y esplenico; eliminacion de la infiltracion en la medula osea para evitar la aparicion de complicaciones, y mejoria de los biomarcadores subrogados.

Gaucher disease (GD), has a pan-ethnic distribution with incidence in non-Ashkenazi Jewish population about 1/70-140 thousand inhabitants. The deficiency in lysosomal acid beta-glucosidase enzyme secondary to variants in the GBA gene with autosomal recessive inheritance gives rise to a variable clinical picture. It appears at any age with symptoms that include anemia, thrombocytopenia, pain and vascular bone lesions, visceral enlargement, persistent fatigue. It was the first EDL to have enzymatic replacement and substrate reduction therapy that impact in the awareness of the disease. In 1993, the Spanish Registry of Gaucher Disease was created (REsEG), within the Spanish Foundation for the Study and Therapeutics of EG (FEETEG), with the aim of providing support to all those involved in the management of patients with EG and summarize experience at the national level. This work review the characteristics at diagnosis of type 1 adult GD (GD1) patients, diagnosed outside active early diagnosis programs, along of twenty five years of REsEG existence focus on leading diagnostic symptoms in order to answer the current challenges in patients suspicions. Aim: To analyze the evolving profile of GD1 patients diagnosed before and after 2000 based on the principal manifestations including visceral, hematological involvement, bone pain, bleeding in order to define the current suspicious characteristics in our population. Methods: Patients 18+ years old included in the REsEG were selected. Demographic, genetic, clinical (hematological, visceral, bone, neurological) data, severity index, biomarkers and other relevant information were included in a database created for this purpose. Platelets Disclosures No relevant conflicts of interest to declare.

Patients with a diagnosis of schizophrenia living in long-term care units show high levels of disability. The present study aimed to assess the effectiveness of including a trained therapy dog in an intervention program applied to institutionalized patients with chronic schizophrenia. A randomized, controlled study with blind assessment was conducted. Twenty-four persons with chronic schizophrenia were randomly selected from a register that included all inpatients at Saint John of God's psychiatric hospital in Spain. Patients who agreed to participate (n = 21) were randomly assigned to one of the two treatment groups: one group received an intervention assisted by a therapy dog (IG+D) (12 patients), while the other received the same intervention but without a therapy dog (IG) (9 patients). The assessment items included the Positive and Negative Symptoms Scale (PANSS), the Living Skills Profile (LSP), the Brief World Health Organization Quality of Life Assessment (WHOQOL-BREF), and the Satisfaction...

Data from the 3-year, prospective, observational SOHO study were used to compare the effectiveness (in terms of treatment discontinuation) and the tolerability of olanzapine, risperidone, other atypicals and typical antipsychotics in 1009 previously untreated outpatients with schizophrenia who started monotherapy at baseline. Kaplan-Meier survival analysis estimated the time to treatment discontinuation by the treatment group, Cox proportional hazards regression models identified the variables associated with treatment discontinuation (adjusted for baseline differences between treatment groups), and logistic regression models compared the tolerability profiles of the different treatment groups. Of the 931 patients analyzed, 31.9% discontinued the medication initiated at baseline during the 3-year follow-up. Olanzapine had the lowest rate of discontinuation (28.9%), followed by other atypical (34.0%), risperidone (36.2%) and typical antipsychotics (44.5%). Compared to olanzapine, risk of treatment discontinuation was higher with typical antipsychotics (hazard ratio [HR] 1.75; 95% confidence interval [CI] 1.11, 2.78) or risperidone (HR 1.36; 95% CI 1.02, 1.82). A higher baseline Clinical Global Impression (CGI) positive score was associated with a higher risk of treatment discontinuation (HR 1.18; 95% CI 1.06, 1.30). Olanzapine was associated with a lower frequency of extrapyramidal symptoms than other antipsychotics, fewer prolactin-related adverse events than risperidone and other atypical antipsychotics, but greater weight gain than typicals and risperidone. For all analyses, comparison with the other atypical group is limited due to its small sample size (n=50). In conclusion, treatment effectiveness and tolerability varied among antipsychotic medications in previously untreated patients with schizophrenia. The results should be interpreted conservatively given the observational study design.

Los bancos de tejidos neurologicos son colecciones de muestras de cerebros y otros tejidos neurologicos de donantes sanos o afectos de alguna enfermedad neurologica o mental. Los bancos de cerebros son utiles en analisis genomico y proteomico de enfermedades neuropsiquiatricas. El Banco de Tejidos Neurologicos de Sant Joan de Deu fue creado en 2004 y es un archivo de muestras de tejidos de donantes afectos de enfermedad mental. El numero de donantes actualmente es de 100. Han fallecido 24, de los que se han obtenido muestras de cerebro congeladas. Los donantes, o sus representantes legales, han firmado el consentimiento informado, y sus familias han sido informadas. Se ha realizado una completa exploracion fisica y psiquiatrica a todos los donantes. El diagnostico se ha confirmado con la Entrevista Clinica Estructurada del DSM IV (SCID), y se ha valorado la severidad de los sintomas y las funciones neuropsicologicas. En todos los casos hay diagnostico primario de trastorno psicotico. En las primeras muestras hemos encontrado una elevada prevalencia de enfermedades neurodegenerativas y vasculares, hecho no infrecuente en los bancos de cerebros de nueva creacion. Este banco de cerebros abre la oportunidad de realizar investigaciones en pacientes psiquiatricos sobre comorbilidad entre enfermedades mentales y neurologicas y el posible papel de los tratamientos en su estilo de vida y en las enfermedades cardiovasculares. Hemos iniciado contacto con los centros, las organizaciones y los profesionales para aumentar el numero de donantes, de manera que el numero de muestras que se puede ofrecer a la comunidad cientifica para futuros estudios psiquiatricos sea mayor.

Objective Previous research has revealed the contribution of decreased processing speed and reduced working memory span in verbal and visual memory impairment in patients with schizophrenia. The role of affective symptoms in verbal memory has also emerged in a few studies. The authors designed a picture recognition task to investigate the impact of these factors on visual encoding. Method Two types of pictures (black and white vs. colored) were presented under 2 different conditions of context encoding (either displayed at a specific location or in association with another visual stimulus). It was assumed that the process of encoding associated pictures was more effortful than that of encoding pictures that were presented alone. Working memory span and processing speed were assessed. Results In the patient group, working memory span was significantly associated with the recognition of the associated pictures but not significantly with that of the other pictures. Controlling for processing speed eliminated the patients' deficit in the recognition of the colored pictures and greatly reduced their deficit in the recognition of the black-and-white pictures. The recognition of the black-and-white pictures was inversely related to anxiety in men and to depression in women. Conclusions Working memory span constrains the effortful visual encoding processes in patients, whereas processing speed decrement accounts for most of their visual encoding deficit. Affective symptoms also have an impact on visual encoding, albeit differently in men and women.

Studies of estrogen therapy in postmenopausal women provide evidence of an effect of sex hormones on cognitive function. Estrogen has demonstrated some utility in the prevention of normal, age-related decline in cognitive functions, especially in memory. The potential therapeutic utility of estrogens in schizophrenia is increasingly being recognized. Raloxifene, a selective estrogen receptor modulator (SERM), appears to act similarly to conjugated estrogens on dopamine and serotonin brain systems, and may be a better option since it lacks the possible negative effects of estrogen on breast and uterine tissue. We assessed the utility of raloxifene as an adjuvant treatment for cognitive symptoms in postmenopausal women with schizophrenia in a 12-week, double-blind, randomized, placebo-controlled study. Patients were recruited from both the inpatient and outpatient departments. Thirty-three postmenopausal women with schizophrenia (DSM-IV) were randomized to receive either adjuvant raloxifene (16 women) or adjuvant placebo (17 women) for three months. The main outcome measures were: Memory, attention and executive functions. Assessment was conducted at baseline and week 12. The total sample is homogenous with respect to: age, years of schooling, illness duration, baseline symptomatology and pharmacological treatment. The addition of raloxifene (60 mg) to regular antipsychotic treatment showed: we found significant differences in some aspects of memory and executive function in patients treated with raloxifene. This improvement does not correlate with clinical improvement. The use of raloxifene as an adjuvant treatment in postmenopausal women with schizophrenia seems to be useful in improving cognitive symptoms.

This analysis explored the prevalence, incidence, and predictors of hostility in the European Schizophrenia Outpatient Health Outcomes (EU-SOHO) study. Data were collected at baseline and up to 36 months on the presence of hostility, clinical course and severity, medication compliance, side effects, substance/alcohol abuse, and being a crime survivor. Regression models were fitted to test the association between predictors and the presence of hostility. Hostility prevalence in the 6 months before baseline was 27.9%, and the incidence at 3 years was 14.0%. Variables related to hostility during follow-up were age, male sex, alcohol/substance abuse, tardive dyskinesia, extrapyramidal symptoms, cognitive impairment, noncompliance, and hospitalization. Being a crime survivor, being married, not living independently, and not being in paid employment were associated with hostility at baseline. Clinical and social variables are related to hostility in schizophrenia. Extrapyramidal symptoms and tardive dyskinesia, alcohol/substance abuse, cognitive impairment, medication noncompliance, and hospitalizations are predictors of future hostility.