Introduction
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by the deficit in communication and social interaction as well as restricted and repetitive interests and ...behaviors. In addition to the involvement of the environmental component in ASD, it is currently established the significant contribution of genetic factors such us the 16p13.11 duplication. We report the case of a patient carrying this anomaly in whom an ASD was diagnosed, the genetic study of the parents objectified the same anomaly in a clinically healthy father.
Objectives
This case report aims to expand the clinical findings associated to this genomic abnormality and provide further knowledge of the pathogenic involvement of this duplication.
Methods
Our patient, aged 4 years and 10 months, presented developmental peculiarities from birth. The difficulties became more evident with the language delay, the deficit of social interactions and the appearance of motor stereotypies as well as sensory specificities. The diagnosis of ASD was confirmed by the passation of the ADI and the ADOS.
Further genetic exploration with a CGH-Array request was performed due to a normal 46 XY karyotype. She objectified a 16p13.11 duplication comprising 25 genes including NDE1. The assessment was completed by the search for potentially associated malformations, particularly cardiac and skeletal. We continued the family investigation with genetic samples for the parents and the siblings finding the same anomaly in the father who does not present any particular phenotype.
Results
The 16p13.11 duplication is associated with a variable clinical spectrum including behavioral disorders, attention deficit/ hyperactivity disorder, intellectual disability, cardiac and skeletal malformation, epilepsy as well as ASD and language delay presented by our patient. Eight annotated genes are present in this region including NDE1, the candidate gene for the neurocognitive phenotype. This microduplication can be found in the normal population, but it is increasingly detected in patients with ASD, schizophrenia or presenting cognitive disorders due to incomplete penetrance that can explain the presence of the duplication despite the absence of any disorders in the patient’s father.
Conclusions
The link between the 16p13.11 duplication and ASD is increasingly recognized in the literature. The heterogeneity of its clinical expression and especially its incomplete penetrating make genetic counseling difficult. Collaboration between child psychiatrists and geneticists remains essential to detect, link their clinical evaluation and optimize care.
Disclosure of Interest
None Declared
IntroductionComplex regional pain syndrome (CRPS) is a rare condition associated with chronic pain. It is an inflammatory and neuropathic disorder principally characterized by involvement of the ...autonomic nervous system. The etiology of the syndrome is not clear and the known treatment modality is also very complicated.ObjectivesExtant literature has shown the relationship between CRPS and suicidal behaviours in adults but less data are available in adolescents. This literature review aims to synthesize and evaluate the existing studies assessing suicidality in CRPS adolescents.MethodsA narrative review of the literature focusing on CRPS and chronic pain in adolescents and their associations with suicidal behavior including suicidal ideations, suicide attempts and death by suicide.ResultsThe studies of suicidality factors in adolescents evaluated chronic pain in general. Those who studied CRPS specifically did not look for its association with suicide risk. In fact, adolescents who suffer from chronic pain present increased risk for suicide ideations and suicidal attempts. Furthermore, no available data have demonstrated the association between chronic pain and suicide. Additionally, among adolescents with CRPS, the risks of somatization, anxiety, and depression are higher. The duration of pain, depression and eating disorders has been shown to be associated with increased suicidality.ConclusionsOur findings suggest that CRPS is associated with higher risks for suicidal ideation, suicidal attempts compared to the general population. The risk factors underlying suicidal behavior in CRPS patients are not studied enough and require further investigation.Disclosure of InterestNone Declared
The cosmic ray spectrum has been shown to extend well beyond 10
20 eV. With nearly 20 events observed in the last 40 years, it is now established that particles are accelerated or produced in the ...universe with energies near 10
21 eV at the production site. In all production models neutrinos and photons are part of the cosmic ray flux. In acceleration models (bottom-up models), they are produced as secondaries of the possible interactions of the accelerated charged particle; in direct production models (top-down models) they are a dominant fraction of the decay chain. In addition, hadrons above the GZK threshold energy will also produce, along their path in the Universe, neutrinos and photons as secondaries of the pion photo-production processes. Therefore, photons and neutrinos are very distinctive signatures of the nature and distribution of the potential sources of ultrahigh energy cosmic rays. In the following we describe the tau neutrino detection and identification capabilities of the Auger Observatory. We show that in the range 3×10
17–3×10
20 eV the Auger effective aperture reaches a few tenths of km
2
sr, making the Observatory sensitive to fluxes as low as a few tau neutrinos per km
2
sr
year. In the hypothesis of ν
μ→ν
τ oscillations with full mixing, this sensitivity allows to a probe of the GZK cutoff as well as providing model independent constraints on the mechanisms of production of ultrahigh energy cosmic rays.
Breast cancers that overexpress the ERBB2 tyrosine kinase receptor may be treated with the recombinant humanized monoclonal anti-ERBB2 antibody trastuzumab (herceptin). However, resistance to this ...targeted therapy is frequent. We have determined the response of 18 breast tumor cell lines to trastuzumab and compared it with the ERBB2 phosphorylation status using antibodies directed against tyrosine residue 1248. We show that sensitivity to trastuzumab is frequently associated with the expression of a phosphorylated ERBB2 protein.
Common fragile sites (CFSs) are regions of chromosomal break that may play a role in oncogenesis. The most frequent alteration occurs at FRA3B, within the FHIT gene, at chromosomal region 3p14. We ...studied a series of breast carcinomas for break of a CFS at 6q26, FRA6E, and its associated gene PARK2, using fluorescence in situ hybridization on tissue microarrays (TMA). We found break of PARK2 in 6% of cases. We studied the PARK2-encoded protein Parkin by using immunohistochemistry on the same TMA. Loss of Parkin was found in 13% of samples but was not correlated with PARK2 break. PARK2 break but not Parkin expression was correlated with prognosis. Alteration of PARK2/FRA6E may cause haplo-insufficiency of one or several telomeric potential tumor suppressor genes (TSG). The AF-6/MLLT4 gene, telomeric of PARK2, encodes the Afadin scaffold protein, which is essential for epithelial integrity. Loss of Afadin was found in 14.5% of cases, and 36% of these cases showed PARK2 break. Loss of Afadin had prognostic impact, suggesting that AF-6 may be a TSG. Loss of Afadin was correlated with loss of FHIT expression, suggesting fragility of FRA6E and FRA3B in a certain proportion of breast tumors.
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