Journal of neurology
-
In the last decade, "end-of-life" issues have gained prominence in political and social debates in many countries. The deliberate ending of the life of a patient upon his/her own request has become a hotly contested topic. ⋯ We discuss the nomenclature of the "choices for death", euthanasia, doctor-assisted suicide and palliative care as well as the social dynamics underlying these developments. We suggest that we need a more nuanced and empirically based understanding of the process of the "choice for death and its implications for medical practice."
-
Journal of neurology · Jul 2010
Case ReportsIdentification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
Congenital myasthenic syndromes are rare genetic disorders compromising neuromuscular transmission. The defects are mainly mutations in the muscle acetylcholine receptor, or associated proteins rapsyn and Dok-7. We analyzed three unrelated Italian patients with typical clinical features of congenital myasthenic syndrome, who all benefitted from cholinesterase inhibitors. ⋯ All three patients had two mutant alleles; parents or offspring with a single mutated allele were asymptomatic, thus all mutations exerted their effects recessively. The previously unreported mutations are likely to reduce the number of AChRs at the motor endplate, although the alphaG378D mutation might produce a mild fast channel syndrome. The alphaG378D mutation was recessive, but recessive CHRNA1 mutations have rarely been reported previously, so studies on the effect of this mutation at the cellular level would be of interest.
-
In stroke patients, it has been suggested that communication disorders could result from lexical and syntactic disorders in left hemisphere lesions and from pragmatics problems in right lesions. However, we have little information on patient behaviour in dyadic communication, especially in conversation. Here, we analyzed the various processes participating in communication difficulties at the rehabilitation phase (1-6 months) post-stroke, in order to define the main mechanisms of verbal and non-verbal communication (VC, NVC) disorders and their relationship with aphasic disorders. ⋯ In conclusion, communication disorders were relatively complex and could not be summarised by syntactical and lexical difficulties in left stroke and pragmatic problems in right stroke. The former also showed severe verbal pragmatic difficulties. Frontal stroke also resulted in evident verbal and non-verbal disorders.
-
Journal of neurology · Jul 2010
Lifetime prevalence and incidence of parasomnias in a population of young adult Nigerians.
Lifetime prevalence, incidence, and risk factors for parasomnias were determined. Past experiences of non-REM, REM, and sleep-transition parasomnias were recorded. Diaries of night sleep duration, parasomnias, perception of aliens, levels of physical activity, headaches and intake of all substances, drugs, and tobacco were kept for 14 consecutive days. ⋯ Nightmares, enuresis, sleep paralysis and night terrors are the commonest parasomnias experienced in the past, while confusional arousal, sleep starts, and nightmares are the commonest parasomnias currently experienced. Incidence estimates show that all parasomnias persist into adulthood at reduced rates, but reduction of occurrence was greatest for enuresis. Long duration of night sleep and intake of alcohol predisposed subjects to higher occurrence of parasomnias.
-
Journal of neurology · Jun 2010
JCV detection in multiple sclerosis patients treated with natalizumab.
Natalizumab therapy is associated with an increased risk of progressive multifocal leukoencephalopathy (PML). Because the prognosis of established PML is uniformly dismal, identification of highly susceptible patients to the disease may improve outcomes. We wanted to investigate whether serial plasma and cerebrospinal fluid (CSF) screening for polyomavirus would identify patients with laboratory evidence of viral infection prior to the development of clinical PML. ⋯ Five patients were positive for BKV DNA in the CSF and three patients were positive for JCV DNA (one in plasma, two in CSF). After cessation of natalizumab treatment, all patients converted to undetectable viral DNA. Screening for JCV in CSF in natalizumab-treated patients could help identify those at heightened risk for developing PML and discontinuing treatment in these patients may abort development of the clinical illness.