Treatment Dilemma in Children with Late-Onset Pompe Disease.

In recent years, there has been a significant increase in the diagnosis of asymptomatic Late-Onset Pompe Disease (LOPD) patients, who are detected via family screening or Newborn Screening (NBS). The dilemma is when to start Enzyme Replacement Therapy (ERT) in patients without any clinical sign of the disease, considering its important benefits in terms of loss of muscle but also its very high cost, risk of side effects, and long-term immunogenicity. Muscle Magnetic Resonance Imaging (MRI) is accessible, radiation-free, and reproducible; therefore, it is an important instrument for the diagnosis and follow-up of patients with LOPD, especially in asymptomatic cases.

Safety in the use of dexmedetomidine (precedex) for deep brain stimulation surgery: our experience in 23 randomized patients.

Objective: Evaluation of safety and efficacy of dexmedetomidine in deep brain stimulation (DBS) surgery.

Materials And Methods: A cohort of 23 patients, candidates for DBS for Parkinson's disease, Tourette syndrome, or obsessive-compulsive disorder, was randomized in two groups: dexmedetomidine group and control group. Standard anesthesiologic parameters were recorded and analyzed, together with the need for other medications.

Effects of paraquat and capsaicin on the expression of genes related to inflammatory, immune responses and cell death in immortalized human HaCat keratinocytes.

The present experiments were aimed to characterize in immortalized human HaCat keratinocytes the gene expression induced by paraquat and capsaicin, two agents known to induce cell death or to affect inflammatory and pain pathways, respectively. In particular, the following set of genes were analysed by qRealtime PCR: CXCL10,CXCL11, IL-10 (inflammatory and immune responses), TP73, BCL2, (apoptotic and anti-apoptotic genes), MMP9 (proteolysis), SOD-1, BAK-1 and CAT (peroxysomal and microsomal oxidation pathways). In this way, we were able to differentiate the two toxins since they had a different profile of gene expression.

Chorea mollis: long-term follow-up of an infantile case.

We describe the long-term follow-up of a patient affected by chorea mollis, a rare variant of Sydenham's chorea of which there are very few reports in the literature. Our patient, a previously healthy 8-year-old boy developed progressive clumsiness, gait disturbance, generalised hypotonia and muscle weakness, choreic movements of the limbs and behavioural disturbances. Following the diagnosis of chorea mollis, the patient received prophylaxis (monthly injections of benzathine benzyl penicillin).

Botulinum toxin type-A in the prophylactic treatment of medication-overuse headache: a multicenter, double-blind, randomized, placebo-controlled, parallel group study.

Medication-overuse headache (MOH) represents a severely disabling condition, with a low response to prophylactic treatments. Recently, consistent evidences have emerged in favor of botulinum toxin type-A (onabotulinum toxin A) as prophylactic treatment in chronic migraine. In a 12-week double-blind, parallel group, placebo-controlled study, we tested the efficacy and safety of onabotulinum toxin A as prophylactic treatment for MOH.

Facilitated temporal summation of pain at spinal level in Parkinson's disease.

Background: Pain is one of the major nonmotor symptoms of Parkinson's disease. We hypothesized that Parkinson's disease patients could show an early diffuse abnormal processing of the nociceptive inputs also in the absence of clinical pain syndrome and that this could represent the physiopathological substrate to explain the high incidence of diffuse pain symptoms.

Materials And Methods: We used the temporal summation threshold of the nociceptive withdrawal reflex and the related pain sensation to evaluate the facilitation in pain processing at spinal level.

Oral nitric-oxide donor glyceryl-trinitrate induces sensitization in spinal cord pain processing in migraineurs: a double-blind, placebo-controlled, cross-over study.

Nitric-oxide donor glyceryl-trinitrate (GTN) modulates cerebral and spinal regions that are involved in migraine and pain processing. We hypothesized that in migraineurs, the susceptibility to develop a migraine attack after GTN administration should parallel with an high sensitivity to GTN-induced change in the pain processing at spinal level. We used the temporal summation threshold (TST) of the lower limb nociceptive withdrawal reflex (NWR) and the related pain sensation to study in parallel the time-course of the effect of the GTN administration on the pain processing at spinal level in migraine and healthy subjects.

Hypnic headache.

Hypnic headache (HH), originally described by Raskin in 1988 as a late-onset, "curious sleep-related headache syndrome," has also been called "alarm-clock headache" as it regularly awakens subjects from sleep at a set time of night. In general, onset of HH is late in life with a chronic course. The most important characteristics of HH are: occurrence exclusively during sleep, chronic pattern of attacks (>/=15 per month), short duration, dull pain, and absence of autonomic signs and symptoms.

The clinical neurophysiology of tension-type headache.

Despite being widely investigated, the pathogenesis of tension-type headache (TTH) continues to be debated. Among the different approaches used to explore the mechanisms underlying TTH, clinical neurophysiology plays an important role. Studies to date have focused mainly on two areas: (1) evaluation of peripheral factors (i.

Epileptic mechanisms in Charles Bonnet syndrome.

Epileptic phenomena are usually not considered a possible cause of prolonged hallucinatory states such as Charles Bonnet syndrome (CBS). A 65-year-old woman with previous right hemorrhagic strokes developed complex visual hallucinations (CVHs), featuring CBS, and delayed palinopsic phenomena, along with new neurological signs and worsening of existing deficits. Video/EEG/polygraphy monitoring revealed the presence of right-sided periodic lateralized epileptiform discharges of the "plus" type (PLEDs plus) and documented a focal seizure in close relation to a delayed palinopsia episode.

New case of 4H syndrome and a review of the literature.

Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies pose a particular diagnostic problem when they occur in children. To seek associated, non-neurologic signs is of fundamental importance in hypomyelinating leukoencephalopathies, because these can help clarify the diagnostic picture.

Episodic cluster headache: NREM prevalence of nocturnal attacks. Time to look beyond macrostructural analysis?

Background: A high prevalence of nocturnal sleep-related attacks is reported in patients with cluster headache (CH). Episodic CH is considered closely related to rapid eye movement (REM) sleep.

Objective: The aim of this study was to analyze the relationships between episodic CH attacks and sleep macrostructure.

Complex paroxysmal nocturnal behaviors in Parkinson's disease.

Complex paroxysmal nocturnal motor behavioral disorders (CPNBs) are frequently reported in patients with Parkinson's disease (PD). REM sleep behavior disorder (RBD) is reported in at least a third of PD patients, although CPNB episodes can also occur on arousal from NREM sleep. It is important to establish the nature of CPNBs occurring in PD, as the different types have different neurobiological significance and clinical importance, and also different treatments.

Medication-overuse headache and personality: a controlled study by means of the MMPI-2.

Objective: The main aim of this study involves comparing the personality profiles of patients with medication-overuse headache (MOH) and episodic headaches, in order to elucidate the role of personality characteristics, according to one of the most widely used and validated personality assessment tool: Minnesota Multiphasic Personality Inventory (MMPI-2).

Background: Many studies have assessed the personality of headache patients by means of MMPI-2 only using clinical and content scales. In this study the supplementary scales were also used as they evaluate different aspects of personality, particularly broad personality characteristics, generalized emotional distress and behavioral dyscontrol.

Neurophilosophy and the distal hyperuranic world: Fred Previc's space of the gods (and of men).

Unlike the concept handed down by philosophy (and by the philosophy of science), which proposes a univocal, intellectualistic vision of space, Previc's studies have shown that the relationship between consciousness and space is instead managed by a number of modules, making it possible to categorise spatial interaction on four levels which correspond to the different ways in which we project our existence in different practical and cultural scenarios. What emerges as particularly important is the fourth level of the management of spatiality, the one that sees human consciousness dealing with the great distances - the heavens, the house of the gods. This module makes use of a neural pathway involving ventral sensory structures that also manage the relationship with religion and transcendence.

Eletriptan.

Migraine is a multifactorial chronic central nervous system disorder, characterized by recurrent disabling attacks of moderate-to-severe headache. Symptomatic acute treatment of migraine should provide rapid and effective relief of the headache pain. The introduction of the 5-HT(1B/1D) receptor agonists (triptans) expanded the armamentarium for acute migraine pain treatment.

Migralepsy: a call for a revision of the definition.

Migralepsy is an ill-defined nosologic entity, with only a few cases described in the literature. In the 2004 International Classification for Headache Disorders (ICHD-II), the International Headache Society proposed that the following diagnostic criteria should be met: (1) migraine fulfilling criteria for 1.2 Migraine with aura (MA) and (2) a seizure fulfilling diagnostic criteria for one type of epileptic attack occurs during or within 1 h after a migraine aura.

Sensitisation of spinal cord pain processing in medication overuse headache involves supraspinal pain control.

Medication overuse could interfere with the activity of critical brain regions involved in the supraspinal control of pain signals at the trigeminal and spinal level, leading to a sensitisation phenomenon responsible for chronic pain. We hypothesised that medication-overuse headache (MOH) patients might display abnormal processing of pain stimuli at the spinal level and defective functioning of the diffuse noxious inhibitory controls. We tested 31 MOH patients before (bWT) and after (aWT) standard inpatient withdrawal treatment, 28 episodic migraine (EM) patients and 23 healthy control subjects.

Enzyme replacement therapy in adult-onset glycogenosis II: is quantitative muscle MRI helpful?

Although it has been shown that muscle magnetic resonance imaging (MRI) improves the phenotypic characterization of patients with neuromuscular disorders and allows accurate quantification of muscle and adipose tissue distribution, to date quantitative MRI has not been used to assess the therapeutic response in clinical trials of neuromuscular diseases. We discuss quantitative MRI findings after a 6-month course of enzyme replacement therapy administered to nine patients with adult-onset glycogenosis II.

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia.

Aim: Cognitive visual dysfunctions (CVDs) reflect an impairment of the capacity to process visual information. The question of whether CVDs might be classifiable according to the nature and distribution of the underlying brain damage is an intriguing one in child neuropsychology.

Method: We studied 22 children born preterm (12 males, 10 females; mean age at examination 8y, range 6-15y; mean gestational age 30wks, range 28-36wks) with periventricular leukomalacia, spastic diplegia, normal intelligence (mean Full-scale IQ 84; mean Verbal IQ 97; mean Performance IQ 74), and normal visual acuity, focusing on higher visual functions.

The role of rehabilitation in deep brain stimulation of the subthalamic nucleus for Parkinson's disease: a pilot study.

Bilateral deep brain stimulation (DBS) of the subthalamic nucleus (STN) is an efficacious therapeutic option in the treatment of advanced Parkinson's disease (PD). The procedure may be however associated with functional impairment of different types and intensity. In this paper we describe the functional impairments detected in a group of 34 subjects with PD who were submitted to DBS.

Spectroscopic magnetic resonance imaging of the brain: voxel localisation and tissue segmentation in the follow up of brain tumour.

The field of application of magnetic resonance spectroscopy (MRS) in biomedical research is expanding all the time and providing opportunities to investigate tissue metabolism and function. The data derived can be integrated with the information on tissue structure gained from conventional and non-conventional magnetic resonance imaging (MRI) techniques. Clinical MRS is also strongly expected to play an important role as a diagnostic tool.

Evidence of dissociated arousal states during NREM parasomnia from an intracerebral neurophysiological study.

Study Objectives: Arousal parasomnias are expressions of sleep/ wake state dissociations in which wakefulness and NREM sleep seem to coexist. We describe the results of a neurophysiological (intracerebral EEG) investigation that captured an episode of confusional arousal.

Design: Observational analysis.

Is hemicrania continua a single entity or the association of two headache forms? Considerations from a case report.

Hemicrania continua (HC) belongs to the group of primary headaches and it is characterized by a strictly unilateral, continuous headache of moderate intensity, with superimposed exacerbations of severe intensity that are accompanied by trigeminal autonomic features. The syndrome is completely responsive to indomethacin. Here we report a case of a 49-year-old man with HC, which may be viewed as a combination of different types of headache, ie, chronic tension-type headache and trigeminal autonomic cephalalgia.