Elisa Baldin

Impact of treatment on the short-term prognosis of status epilepticus in two population-based cohorts

PurposeEpidemiological surveys on status epilepticus (SE) in adults in two Italian areas (Bologna and Lugo di Romagna) disclosed a major difference in 30-day case fatality (33% versus 7 %). Since suboptimal management was hypothesised in the first site, we compared the quality of treatment in the two cohorts and examined its contribution to prognosis.MethodsThe Bologna and Lugo di Romagna cohorts of adults with incident SE were included. Patients with post-anoxic encephalopathy were excluded. Quality of treatment was independently classified by two experts. Clinical and treatment features were compared in the two sites. The contribution of variables collected to the 30-day case fatality was explored through multivariate logistic analysis in the whole group of patients.ResultsFifty-seven patients were included. No differences were observed between Bologna and Lugo di Romagna either in clinical features or the time of management. The quality of global drug treatment significantly differed in disfavour of Bologna (p = 0.044). Independent predictors of a worse 30-day case fatality in the whole group of patients were the onset of SE in hospital (OR 9.67, p = 0.0095) and the poor global quality of treatment (partially correct versus correct OR 3.59, p = 0.55, and incorrect versus correct OR 21.09, p = 0.0084). By subgroup analysis, the site of onset factor encompasses the aetiologic background of patients.ConclusionIn addition to previously known prognostic factors, epidemiological comparison of mortality rates of SE between different regions must also consider the quality of treatment.

Validity of internal expression of the major histocompatibility complex class I in the diagnosis of inflammatory myopathies

Objective The inflammatory myopathies (IMs) are a group of disorders characterised by weakness and inflammation of the skeletal muscles. Muscle biopsy is the most crucial test to confirm the clinical diagnosis, but also the most common cause of misdiagnosis. There are currently no markers specific or sensitive enough to distinguish IMs from other diseases with similar clinical and morphological features, and an international multidisciplinary effort is under way to develop new classification criteria for IMs. Methods Standards for Reporting of Diagnostic Accuracy recommendations to validate a diagnostic test based on the quantification of internal major histocompatibility complex class I (MHC-I) positive fibres were adopted. MHC-I immunostained specimens from 64 patients were scored by two independent blinded investigators, and the percentage of positive fibres was determined. Agreement between investigators was evaluated with the k-weighted statistic. The receiver operating characteristic curve, area under the curve, sensitivity, specificity, and positive and negative predictive values of each percentage range of positive fibres versus the diagnosis of IM were calculated. Results The main difference between IM and non-inflammatory samples was the number of internal MHC-I positive fibres. The k-weighted value was 0.89 for a percentage of MHC-I positive fibres above 50%; the positive predictive value was 100%, and the negative predictive value was 94%. Conclusions This is the first study on the validity of a quantitative analysis of internal MHC-I positive fibres for an IM diagnosis performed according to Standards for Reporting of Diagnostic Accuracy recommendations. The interobserver agreement was almost perfect, thus making the method reproducible. Applying an MHC-I cut-off above 50% is an optimal marker for polymyositis (PM) and dermatomyositis (DM) diagnosis.

Yield of epileptiform electroencephalogram abnormalities in incident unprovoked seizures: A population-based study

The yield of epileptiform abnormalities in serial electroencephalography (EEG) studies has not been addressed in a population‐based setting for subjects with incident epilepsy or a single unprovoked seizure, raising the possibility of methodologic limitations such as selection bias. Our aim was to address these limitations by assessing the yield and predictors of epileptiform abnormalities for the first and subsequent EEG recording in a study of incident epilepsy or single unprovoked seizure in Rochester, Minnesota.

How do we measure psychiatric diagnoses? Implications of the choice of instruments in epilepsy.

We evaluated several commonly used screening instruments for the detection of mood disorders, anxiety disorders, and attention-deficit hyperactivity disorder (ADHD). These were compared to a criterion-based standardized questionnaire, the Diagnostic Interview Survey (DIS)-IV, designed to make DSM-IV-TR diagnoses in the community-based study of childhood-onset epilepsy. The DIS-IV was administered to young adult cases with epilepsy at a 15-year follow-up assessment and compared to symptom screens administered at the same visit, and at a previous 9-year assessment. Among cases, the specificity of the DIS-IV ranged from 0.77 to 0.99 and the predictive value of a negative psychiatric diagnosis was similarly high. Sensitivity was lower, ranging from 0 to 0.77, with correspondingly low predictive value of a positive diagnosis. Symptom-based instruments assess current symptom burden and are useful for determining associations with ongoing seizures or quality of life. Criterion-based standardized interviews, such as the DIS-IV, provide psychiatric diagnoses over the lifetime, which is most useful in studies of epilepsy genetics and studies of comorbidities and prognosis of epilepsy.

Effect of the disclosure of MS diagnosis on anxiety, mood and quality of life of patients: a prospective study

Background:  In the light of the new diagnostic criteria for multiple sclerosis (MS) and currently available early treatment, this study aimed to explore whether, and to what extent, disclosure of the diagnosis of MS or clinically isolated syndrome (CIS) affects patients’ anxiety, mood and quality of life (QoL).

Cognitive functioning in chronic acquired hepatocerebral degeneration

CNS involvement is frequent in patients with chronic liver disease, resulting in overt or subclinical (“minimal”) encephalopathy. Occasionally, patients liver cirrhosis may develop a progressive encephalopathy known as chronic acquired hepatocerebral degeneration (CAHD), presenting with neuropsychiatric changes and movement disorders. In patients affected by CAHD cognitive dysfunction is the rule, but to date this aspect has not been systematically studied. Our aim was to characterize the neuropsychological profile of cognitive impairment associated with CAHD. Eight patients with CAHD received extensive neuropsychological assessment, far from episodes of acute liver decompensation. Their cognitive performances were compared with those of 8 patients with cirrhosis free from CAHD or overt hepatic encephalopathy (HE) and with those of 8 healthy controls matched for age, sex and educational level. Patients with CAHD revealed a significant impairment of visuo-spatial attention compared to healthy controls, and a lower performance on a single task of visual search and sequencing when compared to cirrhotics without CAHD. Our findings support the hypothesis of a linear decline in attentional performances of patients with chronic liver disease, starting from cognitively intact patients, moving toward patients with minimal HE, and finally progressing to those with overt HE and CAHD.

Psychiatric disorders and suicidal behavior in neurotypical young adults with childhood-onset epilepsy

We examined the associations of lifetime and current histories of psychiatric disorders and of suicidal thoughts and behaviors with childhood‐onset epilepsies in a community‐based cohort of young adults.

Prevalence of recurrent symptoms and their association with epilepsy and febrile seizure in school-aged children: A community-based survey in Iceland

We determined the prevalence of common recurrent symptoms in a community-based study of children and investigated whether these symptoms were associated with epilepsy and febrile seizure. A questionnaire was developed and sent to parents of all children attending school in the Reykjavik school district, grades 1-10. The questions assessed personality traits, headache, epilepsy, febrile seizure, and recurrent symptoms. Of the 13,044 questionnaires distributed, 10,578 were returned (81%). We analyzed the subset of 9679 (91%) questionnaires with complete information on relevant factors. The prevalence of epilepsy was 7.7/1000; febrile seizures were reported in 5.1% of children. Prevalence estimates of recurrent symptoms were similar to the published literature. In our cohort, recurrent dizzy spells and recurrent visual disturbances were associated with epilepsy after adjustment for age, migraine and febrile seizure. This association could reflect, only in part, the occurrence of auras in children with epilepsy.

A case of fatal familial insomnia in Africa.

Sir, Fatal familial insomnia (FFI) is an autosomal dominant prion disease linked to the D178N/129M haplotype in the prion protein gene, PRNP, and is the third in frequency among the genetic transmissible spongiform encephalopathies (TSEs) [4]. FFI is characterized by sleep and behavioral disturbances, autonomic alterations, ataxia, pyramidal signs, myoclonus, and late development of mental deterioration. FFI has been reported in families from Italy, Germany, Austria, Spain, the UK, France, Finland, the United States, Australia, Japan, and China [4, 7]. Here we describe the occurrence of the disease in the African Continent. A 45-year-old man, born in Morocco (Greater Casablanca region), was admitted after a five-month history of diplopia, and worsening unsteady gait. When specifically asked he reported a nine-month history of insomnia with total sleep time decreasing from 7 to 5 h per night. In addition he had developed excessive sweating, erectile dysfunction, and a ‘‘gasping’’ breathing. He reported that a similar disease was present in several members of in his family (Fig. 1, genealogical tree) who died after about one year of a progressive neurological illness. He had directly observed the evolution of the disease of his mother and three uncles (III-3, III-1, III-2, III-7 in the figure) which was characterized by disequilibrium, diplopia, speech disorder, insomnia, and late cognitive deterioration. He also gave us clinical records of a cousin (IV-9 in the figure) who had suffered from the ‘‘disease of the family’’. Neurological examination at admission showed horizontal and vertical saccades of the eyes in primary position with horizontal and vertical diplopia. The finger-to-nose test showed mild dysmetria with irregular tremor. Spontaneous and evoked myoclonus was evident, either segmental or massive, at the extremities and at the trunk; tendon reflexes were brisk. Gait was severely ataxic with retropulsion and with a trunk-extremity dissinergy. Neuropsycological examination showed only a mild deficit in long-term verbal memory. EEG showed no periodic discharges. In the CSF the 14-3-3 protein was absent and total tau protein was 120 pg/ml (normal values:141 ± 107 pg/ml). Four consecutive 24-h polysomnographic recordings (PSG) revealed marked reduction of total sleep time (range: 229–340 min; NV: 440 min) and total nocturnal sleep time (range: 123–290 min; NV: 420 min). Sleep efficiency ranged between 26 and 60% (NV [ 85%). Sleep was fragmented by frequent and sometimes prolonged periods of wakefulness. All sleep phases were represented but typical sleep figures (K-complexes and sleep spindles) were markedly reduced. REM sleep was characterized by physiological muscle sleep atonia; both during the night and during daytime naps REM sleep latency was abnormally short. These features were consistent with previous reports on FFI [5]. Brain MRI with diffusion weighted imaging and with spectroscopy, was reported as normal. Analyses of DNA from peripheral leukocytes, revealed the D178N mutation and methionine/valine heterozygosity at the polymorphic 129 codon of the PRNP gene. The mutated allele had methionine at codon 129 and an R3-R4 24 bp deletion. E. Baldin S. Capellari F. Provini P. Corrado R. Liguori P. Parchi P. Montagna P. Cortelli (&) Department of Neurological Science, University of Bologna, via Ugo Foscolo, 7, Bologna, Italy e-mail: pietro.cortelli@unibo.it

Post-Transplant Headache: Benefit from Riboflavin

Post-transplant headache is a recognized complication of organ transplantation. Its treatment can sometimes be problematic given the status of the patient and the risk of drug interference. Six organ-transplanted patients (5 liver and 1 heart) experiencing post-transplant headache were successfully treated with riboflavin 200 mg daily. The drug proved safe and well tolerated and its properties are unlikely to produce clinically relevant drug interactions in the transplant recipient. Awaiting specific trials, riboflavin is proposed as an option for the preventive treatment of post-transplant headache.