ABSTRACT
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by progressive cerebellar ataxia associated with macular degeneration. We recently described one of the largest series of patients with SCA7 that originated from a founder effect in a Mexican population, which allowed us to perform herein the first comprehensive clinical, neurophysiological, and genetic characterization of Mexican patients with SCA7. In this study, 50 patients, categorized into adult or early phenotype, were clinically assessed using standard neurological exams and genotyped using fluorescent PCR and capillary electrophoresis. Patients with SCA7 exhibited the classical phenotype of the disease characterized by cerebellar ataxia and visual loss; however, we reported, for the first time, frontal-executive disorders and altered sensory-motor peripheral neuropathy in these patients. Semiquantitative analysis of ataxia-associated symptoms was performed using Scale for the Assessment and Rating of Ataxia (SARA) and the Brief Ataxia Rating Scale (BARS) scores, while extracerebellar features were measured employing the Inventory of Non-ataxia Symptoms (INAS) scale. Ataxia rating scales confirmed the critical role size of cytosine-adenine-guanine (CAG) repeat size on age at onset and disease severity, while analysis of CAG repeat instability showed that paternal rather than maternal transmission led to greater instability.
Subject(s)
Spinocerebellar Ataxias/diagnosis , Spinocerebellar Ataxias/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Genotype , Humans , Male , Mexico , Middle Aged , Neuropsychological Tests , Severity of Illness Index , Spinocerebellar Ataxias/physiopathology , Spinocerebellar Ataxias/psychology , Young AdultABSTRACT
Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders. CAG (cytosine-adenine-guanine) trinucleotide repeat expansions in the causative genes have been identified as the cause of different SCA. In this study, we simultaneously genotyped SCA1, SCA2, SCA3, SCA6, and SCA7 applying a fluorescent multiplex polymerase chain reaction assay. We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexican southeastern state, and identified 55 patients for SCA7 and 9 for SCA2, but none for SCA1, SCA3, or SCA6. To our knowledge, this sample represents one of the largest series of SCA7 cases reported worldwide. Genotyping of 300 healthy individuals from Mexican population and compiled data from different ethnicities showed discordant results concerning the hypothesis that SCA disease alleles arise by expansion of large normal alleles.
Subject(s)
Founder Effect , Nerve Tissue Proteins/genetics , Spinocerebellar Ataxias/epidemiology , Spinocerebellar Ataxias/genetics , Trinucleotide Repeat Expansion/genetics , Ataxin-7 , Fluorescence , Gene Frequency , Genotype , Humans , Mexico/epidemiology , Multiplex Polymerase Chain Reaction , PrevalenceABSTRACT
Objetivo. Explorar las preferencias de los ciudadanos sobre el tratamiento de soporte vital en situaciones sanitarias críticas. Método. Estudio transversal mediante encuesta a 306 participantes, seleccionados aleatoriamente de consultas de enfermería, centros culturales, residencias asistidas y aulas universitarias. Para medir las preferencias en el tratamiento ante situaciones sanitarias críticas se empleó el cuestionario Life Suport Preferences Questionnaire (LSPQ). Se realizó un análisis descriptivo, bivariante y multivariante de los datos. Resultados. La edad media de los participantes fue de 39,28 años y la desviación estándar (DE) de 24,52; el 29,1% de los encuestados eran varones y un 37% no tenía estudios o sólo estudios primarios. La edad se mostró inversamente correlacionada con la preferencia de aceptar tratamientos, de tal manera que los mayores de 55 años optan en menor medida por los tratamientos de soporte vital que los más jóvenes y ocurre lo mismo con los de menor nivel académico respecto a los de nivel superior. Entre varones y mujeres no se han encontrado diferencias. Ante enfermedades graves sin posibilidad de recuperación las preferencias son similares, hay un rechazo del tratamiento en todos los grupos de edad. Cuando hay posibilidad de recuperación o se trata de tratamientos no invasivos, las personas de 21 o más años prefieren recibir tratamiento. Conclusión. Existe una gran variabilidad entre la población a la hora de aceptar o rechazar el tratamiento de soporte vital. Es inadecuado considerar que consiste siempre en la aceptación de tratamientos a toda costa. Convendría divulgar el conocimiento y uso de las instrucciones previas como mejor vía para respetar la voluntad del paciente cuando no tenga la capacidad de expresarla personalmente (AU)
Objective. To explore citizens treatment preferences in critical health situations.Method. We performed a cross-sectional study through a questionnaire administered to 306 participants, randomlyselected from nursing consultations, cultural centers, nursing homes and the university. Treatment preferences in critical health situations were measured through the Life Support Preferences Questionnaire (LSPQ). A descriptive bivariate and multivariate analysis was performed.Results. The mean age of participants was 39.28 years (SD: 24.52), 37% had primary school or no education, and29.1% were male. Age was inversely correlated with accepting treatments; thus acceptance of life support measures was lower among participants older than 55 years than among the youngest participants and was also lower among those with a lower educational level than those with a higher educational level. No differences were found between men and women. In serious diseases with no possibility of recovery, all age groups rejected treatment. When there was the potential for recovery or for non-invasive treatments, participants aged 21 years old or older would prefer to be treated.Conclusion. There is wide variability among the population when accepting or rejecting life support treatment. The view that treatment should be accepted at all costs is inappropriate. Disseminating knowledge of advance directives and the use of these documents is recommended as the most effective way to respect patients wishes when they are unable to express themselves (AU)
Subject(s)
Humans , Resuscitation , Patient Acceptance of Health Care , Emergency Treatment/standards , Resuscitation Orders/ethics , Informed Consent , Age DistributionABSTRACT
In Mexico cryptococosis ranks third in frequency among the mycoses ocurring as complications in AIDS patients. Neither the prevalence of the two varieties of C. neoformans in these patients nor the morphological and physiological changes suffered by these strains in AIDS patients are known. A total of 60 isolates were obtained from patients with AIDS from the Hospital de Infectología, Centro Médico "La Raza" IMSS. The identity of each isolate was established by: growth at 37 degrees C, colony and microscopic characteristics, urease and phenoloxidase activity, carbon sources assimilation. The canavanine glycine-bromothymol blue agar was used to distinguish C. neoformans var. neoformans and C. neoformans var. gattii. Pathogenicity in mice was also tested. Fifty one isolates of C. neoformans var. neoformans and nine of C. neoformans var. gattii were identified. All strains grew well at 37 degrees C, urease and phenoloxidase were positive, the morphology and the auxanographic profile were variable. C. neoformans var. neoformans was more virulent in mouse than C. neoformans var. gattii. This study has confirmed the presence of the two varieties of C. neoformans in Mexico with 85% prevalence of var. neoformans and 15% of var. gattii in AIDS patients. This frequency was higher than in reports from other countries.
