Laura Rosa Pisani

Hyperhomocysteinemia in epileptic patients on new antiepileptic drugs.

Purpose:  Older enzyme‐inducing antiepileptic drugs (AEDs) may induce supraphysiologic plasma concentrations of total (t) homocysteine (Hcy). The aim of the present study was to investigate the effect of new AEDs on plasma tHcy levels.

Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study

Background:  Sleep disturbances and excessive daytime somnolence are common and disabling features in adult‐onset myotonic dystrophy type 1 (DM1).

Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients

Summary:  The influence of antiepileptic drugs (AEDs) and/or common polymorphisms (677C → T, 1298A → C) of the methylene‐tetrahydrofolate‐reductase (MTHFR) gene on the recurrence time of hyper‐total‐homocysteinemia (tHcy > 13 μmol/L) was investigated in 59 hyper‐homocysteinemic patients (34M/25F, 20–49 years). Plasma tHcy and folate were assayed before and after 1‐month folate supplementation (5mg/day), and after 2, 4, and 6 months. Four MTHFR polymorphism groups were identified with the following tHcy (μmol/L) and folate (nmol/L) levels (mean ± SD): (a) MTHFR677TT/1298AA, 24 patients, 36.0 ± 4.8, 4.1 ± 0.7; (b) MTHFR677CT/1298AC 27.1 ± 2.7, 5.3 ± 1.0 (n = 15); (c) MTHFR677CT/1298AA 16.6 ± 3.6, 6.8 ± 1.0 (n = 11), all taking enzyme‐inducing AEDs; and (d) MTHFR677TT/1298AA 24.5 ± 3.2, 5.6 ± 1.1 (n = 9), treated with new AEDs. After folate therapy, plasma t‐Hcy and folate were normal in all patients. At 6 months, 43 patients (72.9%) exhibited hyper‐tHcy, the greater proportion belonging to the EI‐AED‐MTHFR677TT/1298AA (39%). Knowledge of the hyper‐tHcy recurrence time after folate therapy discontinuation may help in optimizing folate supplementation pulses.

Hyperhomocysteinemia in patients with epilepsy: Does it play a role in the pathogenesis of brain atrophy? A preliminary report

Purpose:  Brain atrophy (BA) is observed in 20–50% of patients with epilepsy. Hyper‐total‐homocysteinemia (hyper‐tHcy), which occurs in 10–40% of patients, is considered to be a risk factor for cardiovascular diseases and BA. The present study was aimed at investigating the possible association of hyper‐tHcy with BA in a population of patients with epilepsy.

Epilepsy in cerebrovascular diseases: Review of experimental and clinical data with meta-analysis of risk factors.

Seizures may occur in close temporal association with a stroke or after a variable interval. Moreover, epilepsy is often encountered in patients with leukoaraiosis. Although early post‐stroke seizures have been studied extensively, less attention has been paid to post‐stroke epilepsy (PSE) and to epilepsy associated with leukoaraiosis (EAL). The aim of this paper is to review data concerning pathophysiology, prognosis, and treatment of PSE and EAL.

Pregabalin as add-on therapy induces REM sleep enhancement in partial epilepsy: a polysomnographic study

Background and purpose:  To evaluate the effects of pregabalin (PGB) adjunctive therapy on sleepwake cycle and daytime somnolence in adult patients affected by partial epilepsy.

Could combined sleep and pain evaluation be useful in the diagnosis of disorders of consciousness (DOC)? Preliminary findings

Abstract Background: The diagnosis of Disorders of Consciousness (DOC) is still challenging. Indeed, ~ 40% of patients in vegetative state (VS) are misdiagnosed, suggesting the need of more appropriate diagnostic tools. Emerging data are showing that EEG, including sleep structure evaluation and multimodal evoked potential recording could be helpful in DOC diagnosis. Moreover, pain perception evaluation could further increase diagnosis accuracy in such individuals. Methods: Fourteen individuals with DOC, due to severe brain injury, were enrolled and admitted to the Intensive Neurorehabilitation Unit of the Research Institute. All patients were evaluated by means of the Coma Recovery Scale-Revised, a 24hh-polysomnography and a Laser Evoked Potential (LEP) paradigm. Results: Clinically-defined patients in Minimally Consciousness State showed a more preserved sleep structure, physiologic hypnic figures and preserved REM/NREM sleep distribution than subjects in VS. LEP showed increased latencies and reduced amplitudes and were also detectable in patients with more structured sleep. Conclusions: The data support previous findings concerning the importance of sleep study in DOC diagnosis, with more specific neurophysiological paradigms. Interestingly, the findings shed some light on the possible correlations among global brain connectivity, sleep structure and pain perception, which are related to the activity of the wide thalamo-cortical and cortico-cortical networks underlying consciousness.

Repetitive transcranial magnetic stimulation induced slow wave activity modification: A possible role in disorder of consciousness differential diagnosis?

Slow wave activity (SWA) generation depends on cortico-thalamo-cortical loops that are disrupted in patients with chronic Disorders of Consciousness (DOC), including the Unresponsive Wakefulness Syndrome (UWS) and the Minimally Conscious State (MCS). We hypothesized that the modulation of SWA by means of a repetitive transcranial magnetic stimulation (rTMS) could reveal residual patterns of connectivity, thus supporting the DOC clinical differential diagnosis. We enrolled 10 DOC individuals who underwent a 24hh polysomnography followed by a real or sham 5Hz-rTMS over left primary motor area, and a second polysomnographic recording. A preserved sleep-wake cycle, a standard temporal progression of sleep stages, and a SWA perturbation were found in all of the MCS patients and in none of the UWS individuals, only following the real-rTMS. In conclusion, our combined approach may improve the differential diagnosis between MCS patients, who show a partial preservation of cortical plasticity, and UWS individuals, who lack such properties.

Could autonomic system assessment be helpful in disorders of consciousness diagnosis? A neurophysiological study

Although patients with chronic disorders of consciousness (DOC), including unresponsive wakefulness syndrome (UWS) and minimally conscious state (MCS), show a limited repertoire of awareness signs, owing to a large-scale cortico–thalamo–cortical functional disconnectivity, an activation of some cortical areas in response to relevant stimuli has been described by means of electrophysiological and functional neuroimaging approaches. In addition, cognitive processes associated with autonomic nervous system (ANS) responses elicited by nociceptive stimuli have been identified in some DOC patients. In an attempt to identify ANS functionality markers that could be useful in differentiating UWS and MCS individuals, we measured the amplitude, latency and γ-band power (γPOW) of ultra-late laser-evoked potentials (CLEPs) and skin reflex (SR), which both express some aspects of cognitive processes related to ANS functionality, besides other ANS parameters either during a 24hh-polygraphy or following a solid-state laser repetitive nociceptive stimulation. MCS showed physiological modification of vital signs (O2 saturation, hearth rate, hearth rate variability) throughout the night and a preservation of SR-γPOW, whereas UWS did not show significant variations. Following repetitive nociceptive stimulation, MCS patients had a significant increase in CLEP-γPOW, O2 saturation, hearth rate, and hearth rate variability, whereas UWS individuals did not show any significant change (but two patients, who reached high Coma Recovery Scale-Revised scores). Hence, our work suggests that a wide-spectrum electrophysiological evaluation of ANS functionality may support DOC differential diagnosis. Interestingly, the two above-mentioned UWS patients showed MCS-like vital sign modifications and electrophysiological pain responsiveness. It is therefore hypothesizable that our approach could be helpful in identifying residual aware autonomic system-related cognitive processes even in some UWS patients. Such issue draws the attention to either DOC clinical diagnosis or adequate pain treatment in DOC patients.

A case of thrombosis of subcutaneous anterior chest veins (Mondor's disease) as an unusual complication of botulinum type A injection.

Mondors disease is a rare entity, characterized by sclerosing thrombophlebitis classically involving one or more of the subcutaneous veins, including the anterior chest wall. It is usually a self-limited, benign condition, although it may be rarely associated with cancer. The intramuscular administration of botulinum toxin type A (BoNT-A), and also, more recently, type B, is a well-established treatment of many neurological, other medical and cosmetic disorders, including strabismus, blepharospasm, cervical and other focal/segmental dystonia, and also hyperhidrosis. Herein, we describe a case of thrombosis of the subcutaneous anterior chest veins, known as Mondors disease, following botulinum toxin treatment for armpits hyperhidrosis.