1,721,011 research outputs found
Urinary p-cresol is elevated in small children with severe autism spectrumdisorder.
No full textUrinary p-cresol is elevated in small children with severe autism spectrum
disorder.
Altieri L, Neri C, Sacco R, Curatolo P, Benvenuto A, Muratori F, Santocchi E,
Bravaccio C, Lenti C, Saccani M, Rigardetto R, Gandione M, Urbani A, Persico AM.
Laboratory of Molecular Psychiatry and Neurogenetics, University Campus
Bio-Medico, Via Alvaro del Portillo 21, Rome, Italy.
Several studies have described in autistic patients an overgrowth of unusual gut
bacterial strains, able to push the fermentation of tyrosine up to the formation
of p-cresol. We compared levels of urinary p-cresol, measured by high-performance
liquid chromatography-ultraviolet, in 59 matched case-control pairs. Urinary
p-cresol was significantly elevated in autistic children smaller than 8 years of
age (p < 0.01), typically females (p < 0.05), and more severely affected
regardless of sex (p < 0.05). Urinary cotinine measurements excluded
smoking-related hydrocarbon contaminations as contributors to these differences.
Hence, elevated urinary p-cresol may serve as a biomarker of autism liability in
small children, especially females and more severely affected males
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene
No full textRecent discoveries have lead to the hypothesis that ciliary dysfunction is a mechanism underlying the pathogenesis of Bardet-Biedl syndrome (BBS). Here, we describe two individuals with decreased olfaction who are members of an extended family affected with BBS caused by a homozygous deletion (c.77-220del) in the BBS4 gene. These findings correlate with the evidence that several BBS proteins, including BBS4, are expressed in the olfactory epithelium (OE). Although the prevalence and the spectrum of impaired olfaction in BBS are not known, the causal relationship of the BBS4 deletion in this family and the decreased olfaction is corroborated by evidence that Bbs2 and Bbs4 knockout mice have severe olfaction deficits and that also patients with BBS caused by mutations in other BBS genes can have impaired olfaction. This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis. © 2005 Wiley-Liss, Inc
Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples.
No full textAltered calcium homeostasis and mitochondrial dysfunction in autism
No full textAims: Genetic variants of the brain isoform of the mitochondrial asp/glu carrier (AGC1), were previously found associated with autism. Our initial aim was to investigate asp/glu transport rates and AGC content in post-mortem brains of autistic patients. Methods: Temporocortical gray matter from matched patient-control pairs was used to measure reconstituted AGC1 activity from tissue homogenates or isolated mitochondria.. Protein content and oxidative damage were evaluated by western blotting.and oxyblotting, respectively. The activity of respiratory chain complexes was determined by standard diagnostic procedures. Results: AGC1 transport rates were significantly higher in tissue homogenates from autistic patients, including those with no history of seizures and with normal EEGs prior to death. This increase was consistently blunted by the Ca2+ chelator EGTA; no difference in AGC1 transport rates was found in isolated mitochondria from patients and controls; control mitochondria showed increased AGC1 activity when exposed to the post-mitochondrial supernatant of his/her matched patient than to his/her own supernatant. Complex IV and complex V activities were both increased in autistic patients but no significant difference in their protein abundance as well as in AGC1 content was detected by western blotting; oxidized mitochondrial proteins were markedly increased in the majority but not all of the patients tested. Interestingly, oxidative damage correlated with the reduction of complex I activity. Conclusions: Excessive Ca2+ levels boosts AGC activity in neurons and, to a more variable degree, oxidative stress and OXPHOS dysfunction in autistic brains. The modulation of AGC1 and/or Ca2+ homeostasis could provide new preventive and therapeutic strategies
Deafferentation induced apoptosis of neurons in thalamic somatosensory nuclei of the newborn rat: critical period and rescue from cell death by peripherally applied neurotrophins
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Lack of infection with XMRV or other MLV-related viruses in blood, post-mortem brains and paternal gametes of autistic individuals.
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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