Secukinumab for Psoriasis in Obese Patients: Minireview and Clinical Experience

Psoriasis (PsO) has been associated with obesity, and its severity increases in obese subjects. The link between psoriatic condition and obesity is based on shared pathophysiological pathways where local and systemic inflammation promote each other; PsO is an inflammatory, immune-mediated disease, and the adipose tissue is the source of proinflammatory adipokines. Moreover, psoriatic arthritis (PsA) is an important comorbidity of PsO that reduces quality of life and makes difficult the patient's management. Treatment of obese subjects with moderate to severe PsO, even more if PsA is present, is challenging because of reduced efficacy of several systemic drugs and increased risk of adverse events. Secukinumab, a monoclonal antibody that selectively binds to and neutralizes interleukin 17A, shows efficacy on PsO in all body weight groups, even in the highest, whose response has a slight downward trend. Clinical features of two obese subjects, affected by PsO and PsA, successfully treated with secukinumab, are described

Combining scanning probe microscopy and x-ray spectroscopy

A new versatile tool, combining Shear Force Microscopy and X-Ray Spectroscopy was designed and constructed to obtain simultaneously surface topography and chemical mapping. Using a sharp optical fiber as microscope probe, it is possible to collect locally the visible luminescence of the sample. Results of tests on ZnO and on ZnWO4 thin layers are in perfect agreement with that obtained with other conventional techniques. Twin images obtained by simultaneous acquisition in near field of surface topography and of local visible light emitted by the sample under X-Ray irradiation in synchrotron environment are shown. Replacing the optical fibre by an X-ray capillary, it is possible to collect local X-ray fluorescence of the sample. Preliminary results on Co-Ti sample analysis are presented

Vertical Gaze Palsy in Kernicterus

No abstract availabl

New perspectives in Autism spectrum disorder associated with tuberous sclerosis

Recent advances inmolecular genetics and preclinical studies of tuberous sclerosis complex (TSC) have helped to better understand the pathophysiology of TSC-related autism spectrum disorder (ASD). Furthermore, developmental studies have shown that infants with TSC begin to diverge from the neurotypical trajectories at the age of 6 months. Early abnormalities are often characterized by a delay in nonverbal cognitive skills, such as fine motor and visual reception domains followed by qualitative impairment of social communication. The expanding possibilities of an early diagnosis of TSC should increasingly allow the prompt identification of a population of infants at high risk for developing ASD. A presymptomatic diagnosis of TSC could facilitate not only the prospective investigation of developmental trajectories and early markers of ASD but also the evaluation of the efficacy of early interventions. Early identification of infants at high-risk for ASD, such as TSC infants, can allow designing individualized treatment strategies to address deficits in specific developmental domains associated with autism. The involvement of mammalian target of rapamycin (mTOR) in determining the behavioral phenotypes associated with TSC led to the hypothesis that mTOR inhibitors could also have a benefit on ASD symptoms. After the promising results from preclinical studies administrating rapamycin, clinical trials studying mTOR inhibitors are now undergoing

Mammalian Target of Rapamycin Inhibitors and Life-Threatening Conditions in Tuberous Sclerosis Complex.

Tuberous sclerosis complex (TSC) is a multisystem disease associated with an overall reduction in life expectancy due to the possible occurrence of different life-threatening conditions. Subjects affected by TSC are, in fact, at risk of hydrocephalus secondary to the growth of subependymal giant cell astrocytomas, or of sudden unexpected death in epilepsy. Other nonneurological life-threatening conditions include abdominal bleeding owing to renal angiomyolipomas rupture, renal insufficiency due to progressive parenchymal destruction by multiple cysts, pulmonary complications due to lymphangioleiomyomatosis, and cardiac failure or arrhythmias secondary to rhabdomyomas. In the last decades, there has been a great progress in understanding the pathophysiology of TSC-related manifestations, which are mainly linked to the hyperactivation of the so-called mammalian target of rapamycin (mTOR) pathway, as a consequence of the mutation in 1 of the 2 genes TSC1 or TSC2. This led to the development of new treatment strategies for this disease. In fact, it is now available as a biologically targeted therapy with everolimus, a selective mTOR inhibitor, which has been licensed in Europe and USA for the treatment of subependymal giant cell astrocytomas and angiomyolipomas in subjects with TSC. This drug also proved to benefit other TSC-related manifestations, including pulmonary lymphangioleiomyomatosis, cardiac rhabdomyomas, and presumably epileptic seizures. mTOR inhibitors are thus proving to be a systemic therapy able to simultaneously address different and potentially life-threatening complications, giving the hope of improving life expectation in individuals with TSC

Cognitive assessment in GNAO1 neurodevelopmental disorder using an eye tracking system

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been tested in a standardized way in GNAO1. GNAO1 children are usually wheelchair-bound and with numerous motor constrains, including dystonic movements and postures, heterotropia, and hypotonia, making the cognitive assessment arduous. These contribute to the burden and disability, with a high level of frustration of caregivers and patients. We have herein demonstrated that, through an eye tracking system, six GNAO1 patients evaluated showed variable degrees of communicative intent through intentionally directed gaze. Moreover, three of these were able to complete a cognitive evaluation, and showed normal fluid intelligence and lexical comprehension. In conclusion, in GNAO1-related disorders, the degree of cognitive development is underestimated; eye tracking technologies may help in overcome these boundaries

Acute movement disorders in childhood

Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in a broader constellation of neurological and extraneurological signs. The diagnostic approach relies on the definition of the overall clinical syndrome and on the recognition of the prominent MD phenomenology. The recognition of the underlying disorder is crucial since many causes are treatable. In this review, we summarize common and uncommon causes of acute-onset movement disorders, focusing on clinical presentation and appropriate diagnostic investigations. Both acquired (immune-mediated, infectious, vascular, toxic, metabolic) and genetic disorders causing acute MDs are reviewed, in order to provide a useful clinician’s guide to this expanding field of pediatric neurology

Dimensions of Adaptivity in Mobile Systems: Personality and People`s Attitude

In this work, we present a study about adaptation on a mobile museum guide aiming at investigating the relationships between personality traits and the attitudes toward some basic dimensions of adaptivity. Each participant was exposed to two simulated systems that realized an adaptive and a non-adaptive version, respectively, on each of the dimensions investigated. The study showed interesting effects of Big Five personality traits on acceptance of the adaptivity dimensions; in particular conscientiousness, creativity and stability. Locus of control seemed to have a limited yet quite selective effect on delegating to the system the choice of follow-ups