Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.

Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 IU/kg. Epoetin alfa had no acute effect on frataxin, whereas a delayed and sustained increase in frataxin was evident at 3 months after the first dose (+35%; P < 0.05), and up to 6 months after the second dose (+54%; P < 0.001). The treatment was well tolerated and did not affect hematocrit, cardiac function, and neurological scale. Single high dose of Epoetin alfa can produce a considerably larger and sustained effect when compared with low doses and repeated administration schemes previously adopted. In addition, no hemoglobin increase was observed, and none of our patients required phlebotomy, indicating lack of erythropoietic effect of single high dose of erythropoietin. © 2010 Movement Disorder Society

Brief Report: Two Day-Date Processing Methods in an Autistic Savant Calendar Calculator

Special ability in computing the day of week for given dates was observed in a 24 year-old male (FB) diagnosed with Asperger syndrome. FB performed almost flawlessly (98.2 %) both with past and future dates, over a span of 40 years. Response latency was slower as temporal remoteness of future dates increased. Within the future timespan, FB’s performance was consistent with the active use of calendar regularities. On the contrary, within the past timespan (for which no remoteness effect was seen), his performance was mainly linked to memory retrieval of personal events. The case presented here complements the existent literature on calendar calculators, as, for first time, two distinct day-date processing styles are described in the same individual

A multi-level approach to the analysis of narrative language in aphasia

Several studies have shown that traditional standardised aphasia tests may not be sensitive enough to adequately assess linguistic deficits and recovery patterns in persons with aphasia. As a result, both functional and structural methods for the ana- lysis of connected language samples from people with aphasia have been devised (see Armstrong, 2000Prins & Bastiaanse, 2004). The present article focuses on our attempt to provide a comprehensive, multi-level procedure for both structural and functional analysis of narrative discourse produced by speakers with brain damage. Accordingly, we will describe a method for analysis of connected language samples elicited on single picture and cartoon story description tasks. This method has proven sensitive in the assessment of language deficits in many neurogenic populations. A comprehensive description of the language production sys- tem, a thorough discussion of the different approaches to discourse analysis in persons with aphasia, and the procedure for the analysis of narrative discourse are detailed. The characteristics of the eliciting stimuli, the procedures for their administration and the transcription of the language samples are carefully explained. The analysis focuses on four main aspects of linguistic processing: productivity, lexical and grammatical pro- cessing, narrative organisation, and informativeness. To further illustrate the analytic procedure, two case reports and an appendix with the analysis of a narrative sample are provided. We will provide direct evidence of the usefulness of the multi-level procedure for discourse analysis for assessing changes in discourse performance of two persons with fluent aphasia, with different aetiologies, that were not captured by tradi- tional standardised aphasia tests. The method of analysis presented in this paper has strong grounds in linguistic and psychological theories of linguistic structure and functioning. It also has the advantage of being both quantitative and functional as it captures selective aspects of linguistic processing, and can provide relevant information about the person\u27s communicative and informative skills

Eye-movement patterns in hemispatial neglect

Hemispatial neglect is usually defined as failure to attend to the contralesional side of space.An approach to the study of neglect has been that to evaluate eye movement patterns ofneglect patients, assuming that eye movements are a valid indicator of direction of theirspatial attention. Eye movements have been analyzed while patients, simultaneously,performed different kinds of tasks, such as line bisection, visual search, text reading, scenesand face viewing. Overall, these studies showed that in neglect patients visual fixations andattention are oriented preferentially towards the ipsilesional side and there was a marked lackof active exploration of the contralesional side. © 2011 Nova Science Publishers, Inc. All rights reserved

Eye-Movement Patterns in Hemispatial Neglect

Hemispatial neglect is usually defined as failure to attend to the contralesional side of space.An approach to the study of neglect has been that to evaluate eye movement patterns ofneglect patients, assuming that eye movements are a valid indicator of direction of theirspatial attention. Eye movements have been analyzed while patients, simultaneously,performed different kinds of tasks, such as line bisection, visual search, text reading, scenesand face viewing. Overall, these studies showed that in neglect patients visual fixations andattention are oriented preferentially towards the ipsilesional side and there was a marked lackof active exploration of the contralesional side

Terapia dei disturbi della comunicazione nel cerebroleso adulto

Questo capitolo affronta le tematiche delle competenze comunicative verbali e non verbali nel paziente afasico, e come queste possano essere oggetto di intervento riabilitativo. Si occupa inoltre dei pazienti non afasici con disturbi della pragmatica comunicativa, e più in generale dei disturbi della comunicazione sociale, quadro di frequente riscontro nella fenomenologia del trauma cranio-encefalico. Infine, si occupa delle situazioni in cui le capacità cognitive e di linguaggio interno sono parzialmente o del tutto conservate, e sussiste un deficit nelle modalità espressive. In questi casi l'intervento riabilitativo è mirato alla ricerca e all'addestramento all'utilizzo di canali alternativi alla comunicazione, talvolta anche grazie all'uso di ausili esterni

Gangrenous ischemic colitis complicating Tauber's procedure

Small and large bowel can suffer hypoxic damages for several causes of blood flow impaired especially in elderly. Cardiovascular diseases, arteriosclerosis, hypotension, diabetes mellitus, chronic renal failure, bleeding disorders, hyperlipidemia, collagen disease, irritable bowel and constipation are known to be risk and contributing factors. It may be caused by occlusive arterial disease, non-occlusive ischemia in critically patients and mesenteric venous thrombosis. Its incidence varies from 5 to 44 cases/100000 individuals/year. Presentation is classically with severe abdominal pain, but relatively few abdominal signs. Early diagnosis is essential before there is an extensive bowel necrosis and perforation but serum markers and CT scanning are currently not sensitive or specific enough to be fully diagnostic. A high index of cases is required with early laparoscopy or a laparotomy to make the diagnosis. We report a case of a young patient with ischemic colitis secondary to Tauber's procedure for left varicocele. It's a cause of male infertility with a prevalence of 9.5-23% in healthy males and up to 41% in men treated at infertility clinics. It can be treated both surgically and by percutaneous methods such as occlusion and scleroembolization agents. Percutaneous embolization has been shown to be an equally effective means of varicocele treatment as surgical spermatic vein ligation and is associated with less post-procedure discomfort. The such case presents interesting features both for the young age of the patient and its etiopatho-genetics. In literature, we did not find similar cases of ischemic colitis after such procedur