Resumen:El Síndrome de Asperger es un trastorno generalizado del desarrollo, fue descrito por Hans Asperger en 1944. Se caracteriza por una marcada alteración social, dificultades en la comunicación, dé-ficit en la capacidad de juego y un rango de comportamiento e intereses repetitivos, sin un retardo significativo en el lenguaje, ni cognitivo. Considerando la importancia del tema actualmente, en este artículo se hace una revisión profunda sobre el tema que abarca aspectos como: características clínicas, alteraciones al examen físico, posibles alteraciones estructurales y funcionales. También se especifican los criterios del DSM-IV, del diagnóstico diferencial y finalmente, se puntualizan algunos aspectos relacionados con la genética y el tratamiento.Palabras clave: autismo, comorbilidad, neurodesarrollo, Síndrome de Asperger, trastorno pervasivo. Progress and prospects in Asperger SyndromeAbstract Asperger Syndrome is a pervasive developmental disorder; it was described by Hans Asperger in 1944. It is characterized by a marked social disruption, difficulties in communication, deficit in the ability to play and a range of interests and repetitive behavior, without a significant language or cognitive delay. Considering the current importance of the item, this is done in a comprehensive review on the subject that covers aspects such as: clinical features, alterations to the physical examination, and possible structural and functional alterations. Also the DSM-IV criteria and the differential diagnosis are specified. Finally, some of the aspects related to the genetics and treatment are discussed.
Introduction Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/ TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease. Methods Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment. Results An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation. Conclusion This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome.
In sweet cherry (Prunus avium L.), infection by Candidatus Phytoplasma pruni results in small fruit with poor color and taste, rendering the fruit unmarketable. Yet, the disease pathology is poorly understood, particularly at the cultivar level. Therefore, in this study we examined the physiological effects of Ca. P. pruni infection across a range of cultivars and locations within eastern Washington. We found that infection could be separated into early and established stages based on pathogen titer, that correlated with disease severity, including fruit size, color, and sugar and metabolite content. Furthermore, we also observed that the effects of early-stage infections were largely indistinguishable from healthy, uninfected plants. Cultivar and location-specific disease outcomes were observed with regards to size, color, sugar content, and citric acid content. This study presents the first in-depth assessment of X-disease symptoms and biochemical content of fruit from commercially grown sweet cherry cultivars known to be infected with Ca. P. pruni.
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