ochratoxin a as possible factor trigging autism and its male prevalence via epigenetic mechanism

The role of dysbiosis causing leaky gut with xenobiotic production and absorption is increasingly demonstrated in autism spectrum disorder (ASD) pathogenesis. Among xenobiotics, we focused on ochratoxin A (one of the major food contaminating mycotoxin), that in vitro and in vivo exerts a male-specific neurotoxicity probably via microRNA modulation of a specific target gene. Among possible targets, we focused on neuroligin4X. Interestingly, this gene carries some single nucleotide polymorphisms (SNPs) already correlated with the disease and with illegitimate microRNA binding sites and, being located on X-chromosome, could explain the male prevalence. In conclusion, we propose a possible gene–environment interaction triggering ASD explaining the epigenetic neurotoxic mechanism activated by ochratoxin A in genetically predisposed children. This mechanism offers a clue for male prevalence of the disease and may have an important impact on prevention and cure of ASD

Esthesioneuroblastoma is not a member of the primitive peripheral neuroectodermal tumour-Ewing’s group

Esthesioneuroblastoma (ENB) is a rare, site-specific, locally aggressive neuronal malignancy so far thought to belong to primitive peripheral neuroectodermal tumour-Ewing's tumour (pPNETs-ETs). Its anatomical location, in addition to morphologic, immunophenotypic and ultrastructural features, suggests its origin in the neuronal or neuroendocrine cells of the olfactory epithelium. However, the cytogenetic and molecular data currently available appear controversial on the presence of the typical translocation t(11;22)(q24;q12) and of trisomy 8, chromosomal changes that characterize the tumours belonging to the pPNETs-ETs. Herein we have analysed five ENB tumour specimens for trisomy 8 by fluorescence in situ hybridization (FISH), for the presence of EWS gene rearrangements by FISH, reverse transcription polymerase chain reaction and Southern blot analyses, as well as for the expression of the Ewing sarcoma-associated MIC2 antigen by immunohistochemistry. Neither EWS/FLI-I, EWS/ERG and EWS/FEV fusion genes nor MIC2 expression were found in any tumour, whereas trisomy 8 was found in one case only. Moreover, DNA from three cases analysed by Southern blot did not show EWS gene rearrangements. Our results support the evidence that ENB is not a member of the pPNETs-ETs. © 1999 Cancer Research Campaig

Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma

Synovial sarcoma (SS) is cytogenetically characterized by the translocation t(X;18)(p11.2-q11.2) generating a fusion between the SYT gene on chromosome 18 and one member of the SSX family gene (SSX1; SSX2; SSX4) on chromosome X. Here, we report for the first time that 2 forms of SYT mRNA are present in both normal tissues and SSs. By amplifying the full-length SYT cDNA of two SSs, we detected 2 bands, here designated N-SYT and I-SYT. The latter, previously undescribed, contains an in-frame insertion of 93 bp. Its sequencing revealed a 100% homology with the mouse SYT gene. These two SYT forms were present, although in different amounts, in all human normal tissues examined, including kidney, stomach, lung, colon, liver and synovia. Coexistence of N-SYT and I-SYT (both fused with SSX) was detected in a series of 59 SSs (35 monophasic and 24 biphasic) and in a SS cell line. A preliminary analysis of the differential expression levels of N-SYT and I-SYT in SSs revealed that the latter was consistently overexpressed, suggesting a role in SS pathogenesis. © 2001 Cancer Research Campaign http://www.bjcancer.co

Factors Associated with Hepatitis C Virus Infection in Injection and Noninjection Drug Users in Italy

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The expression of MDM2/CDK4 gene product in the differential diagnosis of well differentiated liposarcoma and large deep-seated lipoma

Ordinary lipomas are cytogenetically characterized by a variety of balanced rearrangements involving chromosome segment 12q13–15, whereas well differentiated liposarcomas (WDL) show supernumerary ring and giant marker chromosomes, known to contain amplified 12q sequences. The tight correlation between the presence of ring chromosomes and both amplification and overexpression of MDM2 and CDK4 genes suggests the exploration of the possibility that immunocytochemistry (ICC) might assist in the differential diagnosis of lipoma-like well differentiated liposarcomas (LL-WDL) and large deep-seated lipomas (LDSL). For this purpose, 21 cases of the former and 19 cases of the latter tumours were analysed by ICC and, according to the availability of material, by molecular and cytogenetic approaches. All lipomas displayed a null MDM2/CDK4 phenotype, whereas all LL-WDL showed MDM2/CDK4 or CDK4 phenotypes. Southern blot analysis performed on 16 suitable cases, complemented by fluorescence in situ hybridization and classical cytogenetic analysis in 11 cases, was consistent with, and further supported the immunophenotyping data. In conclusion, MDM2/CDK4 product-based immunophenotyping appears to represent a valuable method for the categorization of arguable LDSL. © 2000 Cancer Research Campaig

Role of mycotoxins in the pathobiology of autism: A first evidence

Objectives: Gene–environment interaction is an emerging hypothesis to expound not only the autism pathogenesis but also the increased incidence of neurodevelopmental disorders (such as autistic spectrum disorder, attention-deficit, hyperactivity disorder). Among xenobiotics, mycotoxins are worldwide contaminants of food that provoke toxicological effects, crucially resembling several symptoms associated with autism such as oxidative stress, intestinal permeability, and inflammation. Here, we focused on a group of mycotoxins to test their role in the manifestation of autism, try to explain their mechanism of action, and discuss possible preventive and therapeutic interventions.Methods: Autistic children (n = 52) and healthy children [n = 58 (31 siblings and 27 unrelated subjects)] were recruited and body fluids and clinical data collected. The diagnosis of autism was made according to DSM V criteria, then with GMDS 0-2, WPPSI, and ADOS. Ochratoxin A (OTA), gliotoxin, zearalenone, and sphingosine/sphinganin..

Il talento nella “mente” dell’atleta di resistenza. Utilizzo del modello SFERA nella valutazione della preparazione mentale del ciclista

In endurance sports such as cycling, the preparation and mental predisposition of the athlete are essential to overcomeand go beyond the fatigue and pain that are inalienable from the sport itself. Therefore, the mental componentis correlated not only with the performances during the competitions, but also with the ability to train at best.Consequently, the mental component seems to be essential for the athlete’s talent, which suggests a strong correlationbetween the two parameters. Recently, the SFERA mental training model is used in some endurance sports.The observational study aims to assess whether in 30 non-professional cyclists (16-21 years) the factors of theSFERA (i.e., synchronization, strengths, energy, rhythm and activation) are in balance. The psychological componentswere evaluated by means of a specific questionnaire (SFERA-Q).Differences were found among the several factors within the SFERA. The rhythm is the dominant factor, having thehighest values, while the synchronization and activation have the lowest values among the factors of the SFERA.In conclusion, this study showed that, in young non-professional cyclists, there was no optimal mental conditionfor achieving maximal performance, which makes us assume that a psychological preparation aimed at rebalancingthose factors can lead to an optimal mental state and, consequently, to better performances.Negli sport di resistenza come il ciclismo la preparazione e predisposizione mentale dell’atleta è essenziale persuperare e andare oltre la fatica e dolore che sono inalienabili dallo sport stesso. Quindi la componente mentaleè correlata non solo con le prestazioni durante le competizioni, ma anche con la capacità di allenarsi al meglio. Diconseguenza la componente mentale sembra essere imprescindibile dal talento dell’atleta, il che suggerisce unaforte correlazione tra i due parametri.Negli ultimi anni il modello di allenamento mentale SFERA viene utilizzato in alcuni sport di resistenza.Lo studio, di natura osservazionale, ha come obiettivo di valutare se in 30 ciclisti non professionisti (16-21 anni) ifattori della SFERA (i.e., sincronia, punti di forza, energia, ritmo e attivazione) sono in equilibrio tra loro. Le variecomponenti psicologiche sono state valutate tramite uno specifico questionario (SFERA-Q).Sono emerse differenze tra i vari fattori all’interno della SFERA. Il ritmo risulta il fattore dominante, con i valori piùelevati, mentre la sincronia e attivazione presentano valori minori tra i fattori della SFERA.In conclusione, questo studio ha mostrato che, in giovani ciclisti non professionisti, non è presente una condizionementale ottimale ai fini del raggiungimento delle massime prestazioni. Questo ci fa presupporre che unapreparazione psico-pedagogica mirata al riequilibro tra i vari fattori possa portare ad uno stato mentale ottimalee, di conseguenza a prestazioni migliori

SYT-SSX fusion genes and prognosis in synovial sarcoma

A case series of 64 synovial sarcomas was characterized for the SYT-SSX fusion transcripts and statistically analysed in order to correlate molecular data with prognosis and morphology. SYT-SSX1 fusion transcript appeared to be an independent, though not reaching statistical significance (P = 0.183), prognostic factor clearly associated with a reduced metastasis-free survival. Regarding the association between transcript type and histologic subtype we found, a borderline P value (P = 0.067) between the SYT-SSX1 transcript and the biphasic subtype which, subsequently expanding the analysis to 70 cases, turned out to be significant. However, we could not confirm the prediction value of the biphasic subtype for the presence of the SYT-SSX1 transcript since in our hands 6 out 33 (18%) biphasic tumours carried the SYT-SSX2 transcript.© 2001 Cancer Research Campaign  http://www.bjcancer.co

Cosmid-derived markers anchoring the bovine genetic map to the physical map

The mapping strategy for the bovine genome described in this paper uses large insert clones as a tool for physical mapping and as a source of highly polymorphic microsatellites for genetic typing, and was one objective of the BovMap Project funded by the European Union (UE). Eight-three cosmid and phage clones were characterized and used to physically anchor the linkage groups defining all the bovine autosomes and the X Chromosome (Chr). By combining physical and genetic mapping, clones described in this paper have led to the identification of the linkage groups corresponding to Chr 9, 12, 16, and 25. In addition, anchored loci from this study were used to orient the linkage groups corresponding to Chr 3, 7, 8, 9, 13, 16, 18, 19, and 28 as identified in previously published maps. Comparison of the estimated size of the physical and linkage maps suggests that the genetic length of the bovine genome may be around 4000 c