1q21-q22 locus is associated with susceptibility to the reality-distortion syndrome of schizophrenia spectrum disorders.
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Biomedical subjects
Publications and source records attributed to A Rosa.
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Intraperitoneal injection of the iron-complex, ferric-nitrilotriacetate (Fe-NTA), induces renal proximal tubular damage associated with oxidative damage in vivo. Fe-NTA induced a time-dependent decrease of several polyunsaturated fatty acids (PUFA), together with increased conjugated diene values and decreased cellular levels of alpha-tocopherol and glutathione. At the time of maximum detectable oxidation (3 h), after the injection of a sublethal dose of Fe-NTA there were clear reductions in the peak values over the controls for several fatty acids notably, 20:5 (eicosapentaenoic acid) (36%), 22:6 (docosahexanoic acid) (30%), 20:3 n6 (eicosatrienoic acid) (30%) and 20:4 (arachidonic acid) (28%) in the kidney. Fewer fatty acids showed a reduction in their residual values in the liver. 20:5 was reduced by 45% and for the 18:3 n3 and 18:3 n6, reductions of 35%, respectively. The profile of PUFAs is sensitive to the oxidative damage due to Fe-NTA and this may find applications as oxidative biomarker model.
Two recently described adjacent DNA polymorphisms [(GT)12-18 and (CT)4-5] in the 5'-regulatory region of 5-HT2C receptor gene were analysed in a sample of 88 bipolar patients and 162 controls, all of Spanish origin. Statistical analyses revealed no overall allele or genotype associations with the disease. A haplotype analyses between the (GT)12-18/(CT)4-5 motif and a Cys23Ser variant of the 5-HT2C gene (which had previously been genotyped in the same sample) showed similar distributions between cases and controls. Only a slight increase of s-Ser23 haplotype was found in the subgroup of bipolar women with family history of psychiatric illness (OR=1.24 [95%CI: 1.12-1.38]).
We address the study of sporadic randomness by means of the Manneville map. We point out that the Manneville map is the generator of fluctuations yielding the Lévy processes, and that these processes are currently regarded by some authors as statistical manifestations of a nonextensive form of thermodynamics. For this reason we study the sensitivity to initial conditions with the help of a nonextensive form of the Lyapunov coefficient. The purpose of this research is twofold. The former is to assess whether a finite diffusion coefficient might emerge from the nonextensive approach. This property, at first sight, seems to be plausible in the nonstationary case, where conventional Kolmogorov-Sinai analysis predicts a vanishing Lyapunov coefficient. The latter purpose is to confirm or reject conjectures about the nonextensive nature of Lévy processes. We find that the adoption of a nonextensive approach does not serve any predictive purpose: It does not even signal a transition from a stationary to a nonstationary regime. These conclusions are reached by means of both numerical and analytical calculations that shed light on why the Lévy processes do not imply any need to depart from the adoption of traditional complexity measures.
We show that the widely accepted conviction that a connection can be established between the probability density entropy and the Kolmogorov-Sinai (KS) entropy is questionable. We adopt the definition of density entropy as a functional of a distribution density whose time evolution is determined by a transport equation, conceived as the only prescription to use for the calculation. Although the transport equation is built up for the purpose of affording a picture equivalent to that stemming from trajectory dynamics, no direct use of trajectory time evolution is allowed, once the transport equation is defined. With this definition in mind we prove that the detection of a time regime of increase of the density entropy with a rate identical to the KS entropy is possible only in a limited number of cases. The proposals made by some authors to establish a connection between the two entropies in general, violate our definition of density entropy and imply the concept of trajectory, which is foreign to that of density entropy.
A 48-year-old French diplomat presented with a sensory-motor paraparesis of rapid onset, leading to paraplegia. Successive magnetic resonance image scans showed lesions of the thoracic spinal cord that were at different levels from one examination to the next. Specific anti-gnathostome antibodies were detected by means of enzyme-linked immunosorbent assay and Western blot test in both plasma and cerebrospinal fluid. Albendazole treatment prevented disease progression, but only partial regression of the neurologic symptoms was obtained.
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The present work was carried out to study the effect of some plant methanol extracts and essential oils on lipid peroxidation in simple in vitro systems. The tested extracts were obtained from four plants, commonly known in the Mediterranean area, indigenous to Sardinia: Artemisia arborescens L., Calycotome villosa L., Daphne gnidium L. or naturalized in the island, Eucalyptus globulus Labill. The activity of the extracts was investigated during both autoxidation and iron or EDTA-mediated oxidation of linoleic acid at 37 degrees C in the absence of solvent, and compared with that of BHT, alpha-tocopherol and EDTA. During linoleic acid autoxidation all the extracts were active, showing an antioxidant activity in the order: BHT >alpha- tocopherol >Daphne gnidium (methanol extract) >Eucalyptus globulus (essential oil) >Calycotome villosa (essential oil) >Artemisia arborescens (essential oil and methanol extract) >Calycotome villosa (methanol extract). None showed any prooxidant activity. During the iron-catalysed oxidation of linoleic acid the oils were not active, while all the methanol extracts showed some efficiency in preventing the oxidation process. All the extracts were also tested on cell cultures to investigate their cytotoxic activity or their ability to inhibit the growth of some pathogenic microorganisms.
A number of studies have shown the importance of dermatoglyphics as markers of prenatal disturbance in developmental disorders of unknown origin. Genetic and non-genetic factors are involved in the aetiology of intellectual disability (ID), although the cause remains unknown in up to 50% of cases. The aim of the present study was to analyse dermatoglyphic traits and abnormal palmar flexion creases as markers of environmental prenatal stress in children with idiopathic ID (IID) using a case-control study design. Three dermatoglyphic variables, which have been reported as altered in other congenital disorders, were considered were studied in a sample of 62 children with IID (IQ < 70) and 75 healthy controls (IQ > 70): (1) fingerprint patterns; (2) total a-b ridge count (TABRC); and (3) abnormal palmar flexion creases (APFCs). More arches, the simplest fingerprint pattern, and more radial loops, an unusual pattern, were found in IID cases in comparison to controls (chi23 = 9.26; P = 0.02), with especially marked differences in boys (chi23 = 6.5; P = 0.0008). A significant increase of APFCs was also found in the affected children (chi24 = 28.52; P < 0.00; odds ration = 3.86, 95% confidence interval = 1.77-8.47). For TABRC, the differences between IID cases and controls failed to reach the conventional level of significance. These findings suggest that environmental factors acting early in development, or mechanisms involving an interaction of genotype and environment could be involved in the aetiology of some cases of ID.
We report a case of fosinopril-induced prolonged cholestatic jaundice and pruritus in a 61-year-old man, with no previous hepatobiliary disease, who presented with asthenia, jaundice and itching 3 weeks after starting fosinopril therapy. Other drugs taken by the patient were not considered probable causes. The diagnostic evaluation showed no biliary obstruction and other possible causes of intra-hepatic cholestasis were excluded. Liver biopsy showed cholestasis without bile duct damage. The disease ran a severe course during the 2 months of hospitalization, with prolonged itching for 6 months, eventually controlled with oral naltrexone. Jaundice subsided after 4 months, with anicteric cholestasis persisting for more than 18 months. Similar occurrences have been reported with other inhibitors of angiotensin-converting enzyme (mostly captopril), but this is the first case of an important adverse reaction to fosinopril.
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INTRODUCTION: It has been suggested that evidence of developmental disturbance of cognition and lateralisation in schizophrenia can be best understood from the perspective of developmental stability (DS), an indicator of the extent to which an individual develops according to a specified ontogenic programme in the presence of environmental noise. Higher levels of fluctuating asymmetry (FA; the difference between right and left side of a quantitative morphological trait such as dermatoglyphics) are thought to reflect less DS. We examined this issue for dimensions of schizotypy. METHODS: Associations between FA, measures of laterality and cognitive function on the one hand, and negative and positive dimensions of schizotypy on the other, were examined in a sample of 260 healthy adolescents aged 11.9-15.6years. FA was measured as a-b ridge count right-left differences. Neuropsychological measures yielded a general cognitive ability score and a frontal function score. Laterality was assessed with the Annett scale. RESULTS: Measures of psychosis proneness were normally distributed. Negative schizotypy was associated with more FA and lower general cognitive ability in a dose-response fashion. The association with FA was more apparent in boys. No associations existed with laterality or frontal function. CONCLUSION: The negative dimension of schizotypy may be associated with early developmental instability, resembling the pattern seen in the negative symptom dimension of schizophrenia. Measures of fluctuating asymmetry may be more sensitive with regard to the schizotypy phenotype than measures of laterality.
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single-nucleotide polymorphisms (SNPs) within its coding region. We suggest a possible different mechanism leading to TCS or genetic heterogeneity for this condition, as we identified two families with no apparent pathogenic mutation in the gene. Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias.
OBJECTIVE: In a previous twin study, congenital dermatoglyphic abnormalities, such as ridge dissociations and abnormalities of palmar flexion creases, were more prevalent in twins with psychotic and related disorders than in comparison twins. This study was an attempt to replicate that finding in an independent study group. METHOD: Ridge dissociations and abnormal palmar flexion creases were assessed in monozygotic pairs concordant (19 pairs) and discordant (31 pairs) for psychosis and related disorders. RESULTS: The presence of either ridge dissociations or abnormal palmar flexion creases was higher in the combined group of affected concordant and discordant twins (37.7%), than in the nonaffected discordant twins (20.0%; odds ratio=2.4). In the discordant pairs, the presence of either abnormality was strongly associated with psychotic disorder (odds ratio=3.0). CONCLUSIONS: Factors affecting early fetal development may increase the risk for psychotic disorder. Differential exposure to such early risk factors may contribute to twin discordance for psychotic disorder.
Drug abuse is one of the most pressing sociomedical problems of society. The purpose of this study was to examine the personality and psychopathology of addicts. 229 addicts in treatment programs scored high on Neuroticism and on the Lie Scale and low on Psychoticism and Extraversion on the Eysenck Personality Questionnaire for Puerto Rico. An Addiction Scale, based on a factor analysis, showed a high component of Neuroticism items.
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