Obsessive-Compulsive Disorder, PANDAS, and Tourette Syndrome: Immuno-inflammatory Disorders.

In the last years, much focus has been given to the possible role of inflammatory and immunologic alterations in the pathophysiology of obsessive-compulsive disorder (OCD) and some related conditions, such as pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and Tourette syndrome (TS). Although the matter is intriguing, the available data are still controversial and/or limited. Therefore, the aim of this chapter was at reviewing and commenting on the literature on possible dysfunctions of inflammatory and immune system processes in OCD, PANDAS, and TS.

Visual and vestibular functioning, and age and surgery effects on postural control in healthy children with vertical strabismus.

Purpose: To describe visual and vestibular functioning and the effects of age and surgery effects on postural control in healthy children with vertical strabismus.

Design: This is a comparative case series.

Methods: We evaluated participants at the Scientific Institute Eugenio Medea during routine clinical activities.

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.

Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect associated with multi-organ autoimmune disease and, in some cases, severe growth retardation. By using whole-exome sequencing, we identified two novel STAT3 mutations, p.E616del and p.

High frequency oscillations after median nerve stimulations in healthy children and adolescents.

The aim of the present research was to address somatosensory high frequency oscillations (400-800Hz) in healthy children and adolescents in comparison with healthy adults. We recorded somatosensory evoked potentials following median nerve stimulation in nineteen resting healthy children/adolescents and in nineteen resting healthy adults with eyes closed. We administered six consecutive stimulation blocks (500 sweeps each).

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

Objective: Acid-labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in IGF-I and IGFBP-3 levels associated with mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and their families.

Design: Auxological data, biochemical and genetic studies were performed in four children diagnosed with ACLSD and all available relatives.

II - Insulin processing in mitochondria.

Our objective was to know how insulin is processing in mitochondria; if IDE is the only participant in mitochondrial insulin degradation and the role of insulin degradation on IDE accumulation in mitoplasts. Mitochondria and its fractions were isolated as described by Greenwalt. IDE was purified and detected in immunoblot with specific antibodies.

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.

Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes within the vascular system. ALS deficient (ALS-D) patients and a subset of children with idiopathic short stature (ISS), presenting IGFALS gene variants, show variable degree of growth retardation associated to IGF-I and IGFBP-3 deficiencies. The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants identified in ALS-D and ISS children using in silico and in vitro approaches.

Cortical hyper-excitability in healthy children: evidence from habituation and recovery cycle phenomena of somatosensory evoked potentials.

Aim: To compare neurophysiological parameters of central nervous system excitability in healthy children/adolescents with those of healthy adults.

Method: Two experimental protocols were used in 19 healthy children/adolescents (10 males and 9 females, mean age 9y 11mo [SD 2y 9mo], range 5-15y) and 19 healthy adults (8 males and 11 females, mean age 36y 6mo [SD 7y 9mo], range 27-51y). First, we administered repetitive trains of innocuous electrical stimulation of the median nerve and analysed habituation (progressive attenuation) of the cervical and cortical responses.

Patterns of habituation and clinical fluctuations in migraine.

Background: Habituation deficit, suggesting a deregulation of cortical excitability, represents a typical hallmark of interictal stages of migraine. We previously demonstrated that several neurophysiological markers of altered cortical excitability are significantly correlated to spontaneous clinical fluctuations of migraine. We therefore aimed at verifying whether clinical fluctuations are correlated to specific patterns of somatosensory evoked potential (SEP) habituation.

Children at risk of diabetes type 1. Treatment with acetyl-L-carnitine plus nicotinamide - case reports.

Unlabelled: Abstract Objectives: The aim was to evaluate the treatment with acetyl-L-carnitine (50 mg/kg/day) and nicotinamide (25 mg/kg/day) in children at risk of type 1 diabetes. This treatment was effective and harmless in experimental type 1 diabetes in mice.

Patients: Nine out of seventy healthy participants of the type 1 diabetes risk study were treated.

Different levels of cortical excitability reflect clinical fluctuations in migraine.

Background: In a previous study we demonstrated that high-frequency oscillations (HFOs) elicited by median nerve stimulation are significantly correlated to clinical fluctuations of migraine. We aimed at verifying whether clinical fluctuations and HFO changes are correlated to N20 somatosensory evoked potential (SEP) recovery cycle, which is likely to reflect the functional refractoriness of primary somatosensory cortex neurons.

Methods: We analysed both HFOs and N20 SEP recovery cycle to paired stimulation in 21 migraine patients and 18 healthy volunteers.

Changes in hepatic lipogenic and oxidative enzymes and glucose homeostasis induced by an acetyl-L-carnitine and nicotinamide treatment in dyslipidaemic insulin-resistant rats.

Normal rats fed a sucrose-rich diet (SRD) develop dyslipidaemia and insulin resistance. The present study examined whether administration of the mitochondrial nutrients nicotinamide and acetyl-L-carnitine reversed or improved these metabolic abnormalities. Male Wistar rats were fed an SRD for 90 days.

Somatosensory High Frequency Oscillations reflect clinical fluctuations in migraine.

Objective: It has been demonstrated that the early part of 600 Hz High Frequency Oscillations (HFOs), probably generated in the terminal part of thalamo-cortical somatosensory radiations, are abnormally reduced between attacks in migraineurs. We aimed at verifying whether spontaneous clinical fluctuations in migraine are correlated to HFO changes.

Methods: We recorded somatosensory evoked potentials in 28 migraine patients.

High-frequency oscillations after median-nerve stimulation do not undergo habituation: a new insight on their functional meaning?

Objective: Amplitude decrease of cortical responses after repeated stimuli ('habituation') is a well-known phenomenon, the functional meaning of which is to prevent sensory overflow and to save resources for meaningful and novel stimuli. It is known that the primary low-frequency N20 somatosensory evoked potential (SEP) undergoes habituation in healthy subjects. By contrast, the presence of this phenomenon has never been tested in High Frequency Oscillations (HFOs), which probably reflect the activity of a somatosensory arousal system.

Somatosensory mismatch negativity in healthy children.

Aim: Event-related potentials (ERPs) obtained when focused attention is kept away from the stimulus (unnoticed stimulation) are possibly linked to automatic mismatch-detection mechanisms, and could be a useful tool to investigate sensory discrimination ability. By considering the high impact of impaired somatosensory integration on many neurological disturbances in children, we aimed to verify whether mismatch-related responses to somatosensory stimulation could be obtained in healthy children.

Method: Eleven healthy participants (age range 6-11y, mean 8y 2mo, SD 1y 7mo; seven males, four females) underwent 'oddball' electrical stimulation of the right hand (80% frequent stimuli delivered to the thumb, 20% deviant stimuli delivered to the fifth finger).