Marcelo Miranda C

Síndrome de piernas inquietas: Estudio clínico en población general adulta y en pacientes urémicos

Background: The restless legs syndrome (RLS) is a movement disorder characterized by an imperative urge to move the legs, associated with paraesthesias, motor restlessness and worsening of symptoms at night with at least partial relief by activity. Its prevalence ranges between 2-15% of general adult population and 20-30% of uremic patients. Aim: To evaluate the frecuency and the clinical features of RLS in a sample of general adult population and in uremic patients, in Chile, correlating it with biochemical parameters. Method: 100 relatives of outpatients and 166 uremic patients undergoing chronic haemodialysis were interviewed assessing the presence and severity of RLS according to current diagnostic criteria. Biochemical parameters assessed were hematocrit, serum ferritin, phosphate, intact parathyroid hormone (iPTH) levels. Results: 13% of the general population sample was affected, 15% of them were severe. Forty three cases were found among uremic patients (25.9%) (p <0.01 vs general population), 60% of them were severe and women were affected with higher frequency (p <0.05) and severity (p <0.01). Four patients presented RLS even during hemodialysis. No correlation was found with biochemical parameters. Most RLS cases had not been diagnosed previously. Conclusions: In our population RLS is common and undetected. It is especially prevalent and severe in uremic patients: we found no evidence that anaemia, iron deficiency or iPTH level play a major pathogenic role. Our findings emphasize the need of greater medical awareness of RLS because available therapy may improve the quality of life (Rev Med Chile 2001; 129: 179-86).

Aripiprazole en el tratamiento sintomático del síndrome de Gilíes de la Tourette (enfermedad de los tics)

Background: Tourette syndrome is a neuropsychiatric disorder characterized by motor and vocal tics, attentional deficit, poor control of impulses and obsessive compulsive disorder. Pharmacological treatment is often disappointing due to partial response and frequent poor tolerance to neuroleptic drugs which are otherwise the most effective therapy so far. Aim: To report a lasting improvement obtained with a new drug, aripiprazole that acts modulating both dopaminergic and serotoninergic neurotransmission. Material and methods: Ten patients refractory to their usual therapy, aged 10 to 35 years, were switched to aripiprazole in an open trial. Results: Nine of the 10 patients showed a significant response assessed by the Yale severity tics rating scale and the clinical global impression scale (p <0.01). No relevant adverse effects were observed. Conclusions: Aripiprazole may be a good pharmacological option for patients with Tourette syndrome (Rev Med Chile 2007; 135: 773-6). (Key words: Aripiprazole; Neurotransmitter agents; Tourette syndrome)

Meningomielitis asociadas a infección por herpes virus humano 7. Comunicación de dos casos

and 75 mg protein per dl. Viral RNA detection was positive for HHV-7. The patient was managed with analgesia and rest and was discharged with the diagnosis of viral meningitis. Our comunication supports the notion that HHV-7 may be considered as pathogen factor in humans, even in immunocompetent ones. (Rev Med Chile 2011; 139: 1588-1591).

Johannes Vermeer y Anthon van Leeuwenhoek: El arte y la ciencia de Delft unidos en su máxima expresión en el siglo de oro holandés

: Johannes Vermeer and Anthon van Leeuwenhoek are among the greatest geniuses in Art and Science respectively. During the seventeenth century, they achieved innovative advances. Vermeer, in painting, created a new intimate view of people specially women, developing the treatment of light and details. Leeuwenhoek, friend of Vermeer, influenced him in the use of the obscure camera in his works. In spite of having no formal academic education, he made extremely relevant discoveries with the use of microscope. He showed for first time human spermatozoids, red blood cells, brain, nerve and muscle structures and described many living animals. These two brilliant contemporary Dutch men made a great contribution to our civilization.

Ceguera secundaria a neuropatía óptica isquémica por una disección carotídea espontánea: Caso clínico

In young and middle age subjects, spontaneous carotid dissectionis an increasingly recognized cause of ischemic stroke. Their usual presentation is facial painwith a Horner syndrome and a contra lateral paresis. Blindness has been reported as apresenting symptom in only a few cases. We report a 50 years old man who presented withamblyopia in the left eye, without periocular pain. Fundoscopy showed papilledema and aperipapillar hemorrhage, compatible with an ischemic optic neuropathy. A magnetic resonanceangiography confirmed a left carotid dissection (Rev Med Chile 2003; 131: 1042-44).(

Semmelweis y su aporte científico a la medicina: Un lavado de manos salva vidas

Ignaz Semmelweis, fue un obstetra hungaro que a mediados del siglo XIX, precediendo los hallazgos de Pasteur y Lister, logro descubrir la naturaleza infecciosa de la fiebre puerperal, logrando controlar su aparicion con una simple medida de antisepsia. Debio luchar con la reticencia de sus colegas que no aceptaron sus observaciones que, por primera vez en la historia, fueron apoyadas con datos estadisticos. Esta comunicacion describe datos biograficos de este trascendente cientifico y las circunstancias que rodearon su extrana muerte, apoyada en informacion infrecuentemente divulgada

Diagnóstico de Ataxia Espinocerebelosa tipo 3 (Enfermedad de Machado-Joseph) en Chile.

Sr. Editor: La ataxia cerebelosa es un trastorno de la marcha caracterizado por inestabilidad: la marcha se vuelve insegura, hay aumento de la base de sustentacion y generalmente se acompana de otros signos de disfuncion cerebelosa, como disartria. La mayoria de los casos son esporadicos; sin embargo, cada vez se reconocen mas formas heredadas, especialmente de tipo autosomico dominante, con una prevalencia de 1 a 3 por 100.000 habitantes (1) . Estas son un grupo heterogeneo clinica y geneticamente de enfermedades neurodegenerativas progresivas que se expresan basicamente por ataxia de la marcha, torpeza motora y disartria. De las ataxias heredadas en forma dominante ( mas de 30 tipos ya descritos) la mas frecuente a nivel mundial es la enfermedad de Machado-Joseph ( el gen fundador es de origen portugues) llamada tambien ataxia espinocerebelosa tipo 3 (1-4). Fue descrita en 1972 en Estados Unidos en 3 familias de apellidos Machado, Joseph y Thomas, emigrantes de origen en las islas Azores, Portugal (5,6). Leer mas...

Edvard Munch: enfermedad y genialidad en el gran artista noruego

Edvard Munch is one the most transcendental artists of all times. His work is innovative in terms of reflecting the grief, sadness, loneliness and the impact of death in human beings as no one did it before. Behind his work it is possible to find many clues given by Munch himself of the reason of his creativity: a childhood surrounded by death and sorrow, and the development of an affective disorder that led him to alcoholism and many hospitalizations due to psychotic episodes. In this review, we analyze Munchs life and his disease that undoubtedly contributed to his great artistic legacy.Edvard Munch is one the most transcendental artists of all times. His work is innovative in terms of reflecting the grief, sadness, loneliness and the impact of death in human beings as no one did it before. Behind his work it is possible to find many clues given by Munch himself of the reason of his creativity: a childhood surrounded by death and sorrow, and the development of an affective disorder that led him to alcoholism and many hospitalizations due to psychotic episodes. In this review, we analyze Munchs life and his disease that undoubtedly contributed to his great artistic legacy.

Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena

Neurological abnormalities associated with spiculated,“acanthocytic” red cells in blood have been described as neuroacanthocytosis. This is aheterogeneous group of conditions that can be clearly subdivided on the basis of recent geneticfindings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknownfunction characterized by haemopoietic abnormalities and late-onset neurological andmuscular defects. We report two Chilean brothers with the McLeod phenotype who showedimportant psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis isnot properly studied. We describe a method which allowed the diagnosis that unmaskedacanthocytosis. Otherwise the condition could have remained undiagnosed as it had been fordecades in this family. This syndrome must be considered when assessing a familial movementdisorder, specially affecting males with relevant psychiatric features. A reliable test foracanthocytosis assessment is available (Rev Med Chile 2006; 134: 1436-42).(

William Wilkie Collins: la medicina como un medio para enriquecer la creación de la literatura de ficción

William Wilkie Collins (WWC) is a well-known prolifi c and innovator English writer of the Victorian age. After 150 years he is still being extensively read and all his main works are translated into Spanish. Furthermore, WWC has been acclaimed by famous writers such as JL Borges and TS Eliot as one of the best story-tellers of all times, and a master of the complexities of the plot of stories. WWC mentioned on his works many innovator aspects of medicine, demonstrating an uncanny power of observation and real interest in science. Notoriously, WWC described posttraumatic epilepsy, the clinical effects of opium, the introduction of people with sensorial defi cits, such as blindness and deafness, as main fi gures in his novels. WWC also showed an interest in the management of mental disorders and the use of music as a potential therapy. In this review, we comment these interesting aspects of the creative work of this genius of the fi ction literature. (Rev Med Chile 2011; 139: 1365-1369).