ABSTRACT
Restless legs syndrome (RLS) may severely affect the quality of life of patients. A deficient iron incorporation into the central nervous system has an important role in the pathophysiology of RLS. Severely affected patients may not respond to current therapeutic options. We report a preliminary experience with five patients with severe RLS and low serum ferritin levels who did not improve with oral iron. All were treated with 1 g of intravenous iron carboxymaltose. They experienced a marked improvement in symptoms, evident even during the first week of therapy that had persistent after up to two years of follow-up. A significant change in the RLS severity scale was observed after intravenous iron. Serum ferritin levels increased in all of them. Intravenous iron could be a therapeutic option for patients with severe RLS.
Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Restless Legs Syndrome/drug therapy , Administration, Intravenous , Iron/therapeutic use , Ferritins/analysisABSTRACT
Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presenting with non-fluent aphasia leading to mutism and a mild Parkinsonism. A magnetic resonance imaging showed a severe atrophy of frontal and temporal lobes. Several family members of the patient suffered of atypical Parkinsonism, lateral amyotrophic sclerosis and dementia. We identified an abnormal hexanucleotide expansion in the C9orf72 gene in the proband. To the extent of our knowledge, this is the first time that this diagnosis is confirmed in our country. The knowledge of the genetic basis of neuro degenerative disorders improves diagnosis and opens expectatives for future treatments of these disabling conditions.
Subject(s)
Humans , Male , Female , Aged , DNA Repeat Expansion/genetics , Frontotemporal Dementia/genetics , C9orf72 Protein/genetics , Mutation/genetics , Pedigree , Atrophy , Magnetic Resonance Imaging , Genetic Predisposition to Disease , Frontotemporal Dementia/pathologyABSTRACT
Gerard de Nerval was a French writer, poet and essayist, precursor of surrealism that used for the first time this word in literature and influenced many modern writers. Since the age of 32, Nerval had recurrent psychotic episodes mixed with a severe depression, leading to many hospitalizations, and finally to his death. This mental disease clearly influenced his works and provided originality to his prose and poetry. However no clear explanation has ever been given to his mental disorder. We analyzed the clinical data available from his own works and the opinion of his close friends and postulate the hypothesis that Nerval had a mood disorder.
Subject(s)
History, 19th Century , Humans , Famous Persons , Literature/history , Mental Disorders/history , FranceABSTRACT
A partir del año 2000 la Universidad de Chile desarrolla el Programa de Doctorado en Ciencias Médicas y Especialidad, cuyo objetivo es formar un médico especialista y doctor en Ciencias Médicas competente para realizar investigación clínica del más alto nivel, integrando conocimientos y metodologías del área de las ciencias básicas con aquellas de las ciencias clínicas. El año 2002 se abrió por primera vez la posibilidad de desarrollar simultáneamente la formación como especialista en Psiquiatría de Adultos y como Doctor en Ciencias Médicas. Dados los espectaculares avances de la Neurociencia a nivel mundial, los cuales se habían traducido en importantes progresos en el diagnóstico y tratamiento de los enfermos mentales, parecía lógico invertir recursos orientados hacia el fortalecimiento del diálogo entre los médicos clínicos y los científicos básicos en el país. En el marco de este programa se desarrolló la tesis de doctorado cuyo resumen se presenta a continuación, la cual representa la unión de esfuerzos de profesionales y estudiantes de la Unidad de Trastornos de la Personalidad de la Clínica Psiquiátrica Universitaria y de los Programas de Genética Humana y de Biología Celular y Molecular del Instituto de Ciencias Biomédicas de la Facultad de Medicina de la Universidad de Chile.
Since 2000, University of Chile develops the Doctorate in Medical Sciences Program which is associated to a medical specialty. Its objective is to prepare a specialist MD and PhD capable of developing high quality clinical research, by integrating knowledge and methodologies of basic and clinical sciences. On 2002 the Program considered for the first time Psychiatry as the associated specialty. Given the spectacular progress of Neurosciences around the world, which have determined significant changes in the diagnosis and treatment of mental disorders, it seemed rational to invest resources destined to strengthen the dialog between clinical and basic scientists in Chile. The doctoral thesis that is hereby presented as a summary was developed in the context of this program. It was made possible by the joint efforts of professionals and students of the Personality Disorders Unit of the University Psychiatric Clinic and of the Programs of Human Genetics and of Cell and Molecular Biology of the Biomedical Sciences Institute of the Faculty of Medicine of University of Chile.