West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? is an age-dependent epilepsy with onset peak in the first year of life. According to the ILAE classification, the etiology of WS could be symptomatic or cryptogenic. An idiopathic etiology was considered too. In literature, there was never previously described a transition from WS to JME. Methods: The proband, (male) was referred to our Department at the age of 8 months because he showed clusters of symmetric spasms. Interictal EEG recording displayed an hypsarrhythmic pattern. The clinical and EEG data suggested WS diagnosis. At 1 year of age increasing long and thick hair in both elbow regions was observed. This picture suggested an additional diagnosis of \u201cHairy Elbows Syndrome\u201d. During follow-up, the neurological examination was normal and the EEGs showed age appropriate background activity without abnormalities until 12 years of age, when he experienced some clusters of bilateral, arrhythmic myoclonic jerks, synchronous with generalized discharges of 4Hz spike-wave. This features suggested JME diagnosis. Results: We report a child with WS with onset at 8 months of age followed by JME at 12 years of age. This unusual evolution, never reported previously, suggests that both seizure types may share some pathophysiological processes genetically determined, which produce a susceptibility to seizure. Conclusion: This case documents a new transition type from WS to JME and improves the knowledge about the spectrum of seizure susceptibility. These findings suggest that some genes other than those currently known and nonconventional genetic factors can play a role in seizure predisposition

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Background: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation: We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of both PCDH11Y and NLGN4Y located in the Y chromosome in the same patient. Conclusions: We hypothesized a functional complementary role of PCDH11Y and NLGN4Y within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of PCDH11Y that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission NLGN4Y-linked

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review

This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.R379H) variant while the second was carrier of SCN8A (p.E936K) variant, both involving the pore loop of the two channels. The results of this study suggest that the neurodevelopmental disorders without overt epilepsy of both patients can be the consequences of loss of function of Nav1.2/Nav1.6 channels. Notably, the SCN2A variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the SCN8A variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer\u2013Rokitansky\u2013 K\ufcster\u2013Hauser Syndrome (MRKH, OMIM277000) in females and, recently,were associatedwith intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boywith a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features. In addition, obesity was observed. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted area in the patient and his parents, showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of maternal origin. Our case confirms the incomplete penetrance and variable expressivity of this deletion, its complex clinical variability, and strengthens the evidence that ID and stereotyped behaviors may be part of the phenotypic spectrum characterizing the affected patients. Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented. We present a genotype\u2013phenotype correlation discussing the possible role of some genes, encompassed by the deletion, in the etiology of the observed phenotypes

Medico legal procedures related to sexual assault: a 10-year retrospective experience of a Daphne protocol application

Background: Sexual assault is a worldwide problem that has not yet been sufficiently acknowledged as confirmed by the literature. Italian law n.96, 1996, foreseeing norms regarding rape and sexual abuse, finally gave significant relevance to sex crimes. In 2004, the European Commission for Justice Internal Affairs and Social Politics promoted the Daphne II program to support victims of rape and abuse, and the Violence and Operative Healthcare Networks (Ve.R.S.O.) project started at the Policlinico \ue2\u80\u9cP. Giaccone\ue2\u80\u9d University Hospital of Palermo in 2006. Aim: data analysis emerging from 10 years experience of Daphne protocol utilization for the management of sexual assault victims. Methods: From October 2006 since December 2016 a total of 90 victims of sexual assault were retrospectively investigated. Patients are divided into groups in relation to: gender, age, place of SA, number and type of assailant, nature of sexual assault, presence/absence of physical or genital injuries. Results: Among victims 88 were females (97%) and 2 males (3%); 68 Italians (75.5%) and 22 foreigners (24.5%). At the time the events occurred, 42% (n = 38) of the victims were minors aged less than 16\uc2 years. In 11 cases, the age of the victim is not indicated. The assailant was an acquaintance of the victim in 65% of the cases (in 73% of these cases, the assailant was a family member). In 26 cases (28%) happened indoor, 44 cases happened outdoor and in 20 cases there were no data. Evidence of recent acute general body trauma (abrasions, bruises, lacerations) was found in 38 cases (42%); other types of injuries include: genital trauma (14 cases, 15%), genital and body traumas (49 cases, 54%) (tab. 1\ue2\u80\u932-). In 24 cases (26%) there were no injuries. Among genital trauma, we distinguished vulvo-vaginal lesions (68.5%) and anal lesions (31.5%). We have classified the minor victims using first Adam\ue2\u80\u99s classification and based on Adam\ue2\u80\u99s classification revised in 2015. Conclusion: Application of the Ve.R.S.O project protocol changed and greatly improved health management of victims of violence. By following these procedures, violence and abuse are analyzed from every point of view, also for an appropriate assessment of the medium and long term health consequences of sexual assault. Only in this way are citizens provided with a high level of protection against gender violence, psychological support and prevention from any form of violence which takes place in respect of such vulnerable people

Autism spectrum disorder in Italy: demand for an integrated epidemiological surveillance system.

Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome of emerging public health concern, according to a documented significant increase of diagnosed cases of ASD in Europe and USA. In Italy, actually, it is not possible to estimate at national level a reliable ASD occurrence by using existing health and scholastic data flows. The lack of information has implications on social and healthcare services dedicated to subjects affected by ADS. The database of the Italian institute in charge of social and security assistance was accessed at the provincial level to investigate the ASD cases occurred in the Palermo province. The official reports of all subjects visited in 2013 by INPS physicians were analyzed by using an automatic software and diagnosis consistent with ASD were ex- tracted and flagged. Our findings support the choice of alternative use of INPS administrative database in order to define a reliable ASD occurrence estimate as first step to develop an integrated epidemiological surveillance system on AS

Postharvest Quality during Refrigerated Storage of 'Nadorcott' Mandarin.

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Toward a Comprehensive and Integrated Strategy of the European Marine Research Infrastructures for Ocean Observations

Research Infrastructures (RIs) are large-scale facilities encompassing instruments, resources, data and services used by the scientific community to conduct high-level research in their respective fields. The development and integration of marine environmental RIs as European Research Vessel Operators [ERVO] (2020) is the response of the European Commission (EC) to global marine challenges through research, technological development and innovation. These infrastructures (EMSO ERIC, Euro-Argo ERIC, ICOS-ERIC Marine, LifeWatch ERIC, and EMBRC-ERIC) include specialized vessels, fixed-point monitoring systems, Lagrangian floats, test facilities, genomics observatories, bio-sensing, and Virtual Research Environments (VREs), among others. Marine ecosystems are vital for life on Earth. Global climate change is progressing rapidly, and geo-hazards, such as earthquakes, volcanic eruptions, and tsunamis, cause large losses of human life and have massive worldwide socio-economic impacts. Enhancing our marine environmental monitoring and prediction capabilities will increase our ability to respond adequately to major challenges and efficiently. Collaboration among European marine RIs aligns with and has contributed to the OceanObs’19 Conference statement and the objectives of the UN Decade of Ocean Science for Sustainable Development (2021–2030). This collaboration actively participates and supports concrete actions to increase the quality and quantity of more integrated and sustained observations in the ocean worldwide. From an innovation perspective, the next decade will increasingly count on marine RIs to support the development of new technologies and their validation in the field, increasing market uptake and produce a shift in observing capabilities and strategies.Peer reviewe