We report a new case of GM1-gangliosidosis diagnosed in a 5 months old baby who was admitted at birth to our Neonatology Unit because of congenital ascites. The antenatal diagnostic techniques, including ultrasound, maternal antibody screen and fetoscopy with fetal karyotyping, as well as postnatal exhaustive study, failed to determine the underlying cause. Because of progressive neurologic deterioration a lysosomal storage disease was suspected and confirmed by skin biopsy. We wish to add a new case of a lysosomal storage disease to the growing list of nonimmune hydrops fetalis etiologies, and to highlight the importance of enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascitis have been ruled out.
IntroductionPerceived and anticipated stigma are relevant issues in patients with schizophrenia. Stigma has negative consequences both in quality of life and in the course of illness.ObjectivesTo analyze differences in perceived and anticipated discrimination in two groups of patients with schizophrenia: one with a recent diagnosis of illness and another with a long course of disease.MethodsA cross-sectional study was carried out in a sample of 100 patients with diagnosis of schizophrenia, 18 or more years old, clinically stabilized, without axis I DSM-IV comorbidity. Patients received treatment in the outpatient services of a catchment area in Madrid. Perceived and anticipated discrimination was evaluated trough the DISC-12 (Discrimination and Stigma scale). Other study variables were: socio-demographic status, length of disease, symptoms of depression (Calgary Scale) and functionality degree measured by Global Assessment of Function (GAF). Two sub-groups of patients were compared: one with a length of illness below 5 years and a second one with a length of illness over 5 years.ResultsPatients with a length of illness longer than 5 years showed elevated degree of perceived and anticipated discrimination compared with patients with less than 5 years of illness course. In the same way, patients with a recent diagnosis of illness showed increased scores in the measure of face the stigma.ConclusionsPreventive strategies to avoid the stigma in schizophrenia should consider some differences in patients in relationship with the length of evolution of illness in order to be more accurate. Early intervention programs about stigma are necessary.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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