Prophylactic therapy in a pregnant woman with severe factor VII deficiency

This paper reports a case of factor VII deficiency, a very rare autosomal recessive disorder, in a primipara at 37 weeks of gestation in whom we administered prophylactic therapy with factor VII every 12 h until 24 h after delivery. The prophylactic use of factor VII enabled the woman to deliver without hemorrhagic complications.     

Influence of cholinergic circuitries in generation of high-frequency somatosensory evoked potentials.

OBJECTIVE: High-frequency oscillations (HFOs) evoked by upper limb stimulation reflect highly synchronised spikes generated in the somatosensory human system. Since acetylcholine produces differential modulation in subgroups of neurons, we would determine whether cholinergic drive influences HFOs. METHODS: We recorded somatosensory evoked potentials (SEPs) from 31 scalp electrodes in 7 healthy volunteers, before and after single administration of rivastigmine, an inhibitor of central acetylcholinesterase. Right median nerve SEPs have been analysed after digital narrow bandpass filtering (500-700 Hz). Raw data were further submitted to Brain Electrical Source analysis (BESA) to evaluate the respective contribution of lemniscal, thalamic and cortical sources. Lastly, we analysed by Fast Fourier transform spectral changes after drug administration in the 10-30 ms latency range. RESULTS: Rivastigmine administration caused a significant increase of HFOs in the 18-28 ms latency range. Wavelets occurring before the onset latency of the conventional N20 SEP did not show any significant change. A similar increase concerned the strength of cortical dipolar sources in our BESA model. Lastly, we found a significant power increase of the frequency peak at about 600 Hz in P3-F3 traces after drug intake. CONCLUSIONS: Our findings demonstrate that the cortical component of HFOs is significantly enhanced by cholinergic activation. Pyramidal chattering cells, which are capable to discharge high-frequency bursts, are mainly modulated by cholinergic inputs; by contrast, acetylcholine does not modify the firing rate of fast-spiking GABAergic interneurons. We thus discuss the hypothesis that cortical HFOs are mainly generated by specialised pyramidal cells.     

Sleep disorders in the elderly

Geriatric patients often complain about sleep disorders, but many of the typical sleep disturbances in the elderly are thought to be normal consequences of old age and go underdiagnosed and undertreated. Sleep disorders are estimated to affect nearly 50% of older persons. Most frequently the elderly suffer from Sleep Disordered Breathing (SDB), Periodic Limb Movements in Sleep (PLMS), Restless Legs Syndrome (RLS), morning headaches, circadian rhythm disorders, excessive daytime sleepiness, Obstructive Sleep Apnea Syndrome (OSAS), and insomnia. This review describes all these common sleep problems in the older population and their possible treatment.     

New perspectives in the diagnosis and therapy of narcolepsy

Narcolepsy syndrome is a common, although often misdiagnosed, neurological disorder, whose clinical features are excessive daytime somnolence with sleep attacks, caplexy, sleep paralysis and hypnagogic hallucinations. The clinical manifestation have been interpreted as the expression of a sudden intrusion of dissociated REM phenomena in wakefulness. Sometimes the clinical manifestations may include only some of the symptoms: in particular, the cases in which the only symptom is excessive daytime somnolence may be difficult to diagnose. The etiopathogenesis of narcolepsy syndrome is still poorly understood. Recent experimental evidences suggest that a protein, called "orexin", which is supposed to play a role in the control mechanisms of both sleep and eating behaviour, is involved in its pathogenesis. The treatment of narcolepsy has been, up to now, exclusively symptomatic, and in some way empirical and unsatisfactory, especially regarding to daytime sleepiness. Recently, new pharmacological agents, acting on the serotoninergic and/or noradrenergic systems, allow a better control of the cataplectic attacks. The recent development of modafinil, a central nervous system stimulant, devoid of the serious side effects of amphetamines and other compounds, allows to hope in a better control of daytime somnolence and sleep attacks. The aim of the paper is to describe the recent advances in the diagnosis and treatment of narcolepsy.     

Rapid assay of rufinamide in dried blood spots by a new liquid chromatography–tandem mass spectrometric method

Rufinamide (RUF) is a new antiepiletic drug with efficacy in several types of seizures. The aim of this study was to evaluate the use of dried blood spot (DBS) specimens to determinate RUF levels during treatment. Therapeutic drug monitoring of RUF could be useful in routine clinical practice. Advantages of DBS include short collection time, low invasiveness, ease and low cost of sample collection, transport and storage. The analysis was performed in selected reaction monitoring (SRM) mode. The calibration curve in matrix was linear in the concentration range of 0.008–0.8 mg/L (0.48–47.60 mg/L in DBS) of rufinamide with correlation coefficient value of 0.996. In the concentration range of 0.48–47.6 mg/L, the coefficients of variation in DBS were in the range 1.58–4.67% and the accuracy ranged from 89.73% to 107.32%.     

A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC‐tandem mass spectrometry

Advantages of dried blood spot include low invasiveness, ease and low cost of sample collection, transport, and storage. We used tandem mass spectrometry (LC‐MS/MS) to determine phenobarbital levels on dried blood spot specimens and compared this methodology to commercially available particle enhanced turbidimetric inhibition immunoassay (PETINIA) in plasma/serum samples. The calibration curve in matrix using D₅‐phenobarbital as internal standard was linear in the phenobarbital concentration range of 1–100 mg/L (correlation coefficient 0.9996). The coefficients of variation in blood spots ranged 2.29–6.71% and the accuracy ranged 96.54–103.87%. There were no significant differences between the concentrations measured using PETINA and LC‐MS/MS (both had similar precision and accuracy) however, LC‐MS/MS allows at least 1.5 times higher throughput of phenobarbital analysis and additionally offers ease of sample collection which is particularly important for newborns or small infants.