Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy

In the present paper we report on a case of oculo-auriculo-vertebral spectrum presenting fluorescence in situ hybridization and comparative genomic hybridization tests negative, hypotonia of some branchiomeric muscles (with velo-pharyngeal insufficiency, dysphagia and nasal voice) and non-branchiomeric muscles (with strabismus and limb hypotrophy). On the basis of the left quadriceps muscle biopsy, showing anisometry and prevalence of type 1 fibers, and on literature data, we underline the relevance of TBX1 gene (regulator of neural crest cells and activator of myogenic factors in branchiomeric muscles development) and of PAX3 gene (present in neural crest, inducing migration of these cells and reported in non-branchiomeric muscles). We conclude that the case of OAVS presented a generalized myopathy and we hypothesize that a cluster of genes strictly neural crest cells related, including TBX1 and PAX3, may be responsible of the branchiomeric and non-branchiomeric myopathy; alternatively, a regulatory mechanism abnormally common to OAVS and velo-cardio-facial syndrome could be present

The Role of Metals in the Neuroregenerative Action of BDNF, GDNF, NGF and Other Neurotrophic Factors

Mature neurotrophic factors and their propeptides play key roles ranging from the regulation of neuronal growth and differentiation to prominent participation in neuronal survival and recovery after injury. Their signaling pathways sculpture neuronal circuits during brain development and regulate adaptive neuroplasticity. In addition, neurotrophic factors provide trophic support for damaged neurons, giving them a greater capacity to survive and maintain their potential to regenerate their axons. Therefore, the modulation of these factors can be a valuable target for treating or preventing neurologic disorders and age-dependent cognitive decline. Neuroregenerative medicine can take great advantage by the deepening of our knowledge on the molecular mechanisms underlying the properties of neurotrophic factors. It is indeed an intriguing topic that a significant interplay between neurotrophic factors and various metals can modulate the outcome of neuronal recovery. This review is particularly focused on the roles of GDNF, BDNF and NGF in motoneuron survival and recovery from injuries and evaluates the therapeutic potential of various neurotrophic factors in neuronal regeneration. The key role of metal homeostasis/dyshomeostasis and metal interaction with neurotrophic factors on neuronal pathophysiology is also highlighted as a novel mechanism and potential target for neuronal recovery. The progress in mechanistic studies in the field of neurotrophic factor-mediated neuroprotection and neural regeneration, aiming at a complete understanding of integrated pathways, offers possibilities for the development of novel neuroregenerative therapeutic approaches

Reply to “regarding the article of ceccacci et al. (2016; 223: 54–55)” entitled “role of MIBG scintigraphy in reverse tako-tsubo cardiomyopathy. confirming a pathophysiologic hypothesis"

We agree with Nicolas Mansencal et all. and we really thanks for their comments. For brevity, we did not report some details of the descripted clinical case (1). The diagnosis of Takotsubo cardiomyopathy was performed according to Mayo Clinic criteri

Enhancing behavioural changes: a narrative review on the effectiveness of a multifactorial APP-based intervention integrating physical activity

The rapid evolution of technologies is a key innovation in the organisation and management of physical activities (PA) and sports. The increase in benefits and opportunities related to the adoption of technologies for both the promotion of a healthy lifestyle and the management of chronic diseases is evident. In the field of telehealth, these devices provide personalised recommendations, workout monitoring and injury prevention. The study aimed to provide an overview of the landscape of technology application to PA organised to promote active lifestyles and improve chronic disease management. This review identified specific areas of focus for the selection of articles: the utilisation of mobile APPs and technological devices for enhancing weight loss, improving cardiovascular health, managing diabetes and cancer and preventing osteoporosis and cognitive decline. A multifactorial intervention delivered via mobile APPs, which integrates PA while managing diet or promoting social interaction, is unquestionably more effective than a singular intervention. The main finding related to promoting PA and a healthy lifestyle through app usage is associated with "behaviour change techniques". Even when individuals stop using the APP, they often maintain the structured or suggested lifestyle habits initially provided by the APP. Various concerns regarding the excessive use of APPs need to be addressed

Optical trapping of silver nanoplatelets

Optical trapping of silver nanoplatelets obtained with a simple room temperature chemical synthesis technique is reported. Trap spring constants are measured for platelets with different diameters to investigate the size-scaling behaviour. Experimental data are compared with models of optical forces based on the dipole approximation and on electromagnetic scattering within a T-matrix framework. Finally, we discuss applications of these nanoplatelets for surface-enhanced Raman spectroscopy

Large area SiC-UV phothodiode for spectroscopy portable system

In this work, we present the extensive characterization of large area Silicon Carbide based UV sensors candidate for outdoors spectroscopic applications of gas or liquid. The proposed SiC Schottky devices exhibit dark current density of 0.12 nA/cm2 @ 15 V, a 0.12 A/W responsivity @ 300 nm, optimal visible blindness and switching time of ~ 190 ns. Effects of temperature on the sensor performance, of crucial interest for outdoors applications, are also examined in the range from -20 °C to 90 °C.Published2931 - 29367TM. Sviluppo e Trasferimento TecnologicoJCR Journa