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Biomedical subjects

I Mata

Publications and source records attributed to I Mata.

At least 19 recordsLinked to original sources

No association between ADRA2A polymorphisms and schizophrenia.

There is evidence to suggest that the alpha(2A)-adrenergic receptor may be involved in schizophrenia. With attention directed at the upstream regulatory region of the gene which codes for this receptor (ADRA2A), we proposed that single nucleotide polymorphisms (SNPs) within this region influences susceptibility to schizophrenia by altering the expression of this receptor. We opted to test for an influence on susceptibility by association study using 112 schizophrenic/schizoaffective disorder patients and 159 controls. The region of interest was screened for SNPs using a combination of bioinformatic searches and sequencing. A total of nine SNPs were discovered, of which four (-5972-G/A, -2211-A/T, -1291-C/G and -261-G/A) were genotyped in the entire clinical sample. No associations were evident, suggesting no influence for these SNPs in susceptibility to schizophrenia.

Adult↗

Synthesis, characterization, and dynamic studies of 12-vertex eta5-ruthenium(II) closo-phosphine complexes with monoanionic [10-L-nido-7-R-7,8-C2B9H9]- ligands.

Ruthenacarborane complexes of formula [3-H-3,3-(PPh3)2-8-L-closo-3,1,2-RuC2B9H10)] (L = SMe2 (2a), SEt2 (2b), S(CH2)4 (2c), SEtPh (2d)) and [1-Me-3-H-3,3-(PPh3)2-8-L-closo-3,1,2-RuC2B9H9)] (L = SMe2 (2e), SEt2 (2f)) were prepared by reaction of the respective monoanionic charge-compensated ligands [10-L-nido-7,8-C2B9H10]- and [7-Me-10-L-nido-7,8-C2B9H9]- with [RuCl2(PPh3)3]. Similary, complexes [3-H-3,3,8-(PPh3)3-closo-3,1,2-RuC2B9H10)] (4a) and [3-H-3,3-(PPh3)2-8-PPh2Me-closo-3,1,2-RuC2B9H10)] (4b) were prepared from the corresponding phosphonium ligands. The reaction is done in one pot by reacting the ligand with the Ru(II) complex in a 1.5:1 ratio. All compounds have been fully characterized by multinuclear NMR spectroscopy, and the molecular structures for 2a and 4a have been elucidated by single-crystal X-ray diffraction analysis. The Ru(II) atom in this complex is on the open face of the monoanionic charge-compensated ligand adopting a pseudooctahedral coordination. Formally, three positions are supplied by the C2B3 open face, two PPh3 groups occupy two other positions, and a hydride fulfills the remaining one. The hydride complexes were generated with no special reagent. They result from a dehalogenation in the presence of ethanol.

Journal Article↗

Serotonergic polymorphisms and psychotic disorders in populations from North Spain.

There is strong biological evidence relating alterations in the serotonergic system with mental disorders. These alterations may be originated at the DNA level by sequence mutations that alter the functioning of serotonin receptors and transporter. To test this hypothesis we investigated three genetic variants of the 5-HT2A receptor (-1438G/A, 102T/C and His452Tyr) and two variants of the serotonin transporter (a VNTR in the second intron and a 44 bp insertion/delition in the promoter region of the gene) in a clinical sample recruited in a human isolate and in surrounding areas in Northern Spain (N = 257) and in ethnically matched controls (N = 334). No clear association was found between 5-HT2A variants and psychosis. However, marginal associations were observed between the 5-HTT LPR and VNTR variants and psychosis (P < or = 0.05) indicating a minor contribution to psychosis of genetic alterations in this gene.

Adult↗

Uracilato and 5-halouracilato complexes of Cu(II), Zn(II) and Ni(II). X-ray structures of [Cu(uracilato-N(1))(2)(NH(3))(2)].2(H(2)O), [Cu(5-chlorouracilato-N(1))(2)(NH(3))(2)](H(2)O)(2), [Ni(5-chlorouracilato-N(1))(2)(en)(2)].2H(2)O and [Zn(5-chlorouracilato-N(1))(NH(3))(3)].(5-chlorouracilato-N(1)).(H(2)O).

Four new complexes of uracilato and 5-halouracilato with the divalent metal ions Cu(II), Zn(II) and Ni(II) were obtained and structurally characterized. [Cu(uracilato- N(1))(2)(NH(3))(2)].2(H(2)O) (1) and [Cu(5-chlorouracilato-N(1))(2)(NH(3))(2)](H(2)O)(2) (2) complexes present distorted square planar co-ordination geometry around the metal ion. Although an additional axial water molecule is present [Cu(II)-OH(2)=2.89 A (for 1) and 2.52 A (for 2)] in both cases, only in the complex 2 would be considered in the limit of a bond distance. The Zn(II) in [Zn(5-chlorouracilato-N(1))(NH(3))(3)].(5-chlorouracilato-N(1)).(H(2)O) presents a tetrahedral co-ordination with three ammonia molecules and the N(1) of the corresponding uracilato moiety. A non-coordinated uracilato molecule is present as a counterion and a recognition between co-ordinated and free ligands, by means a tandem of H-bonds, should be mentioned. Finally, the complex [Ni(5-chlorouracilato-N(1))(2)(en)(2)] (H(2)O)(2) (where en is ethylenediamine) presents a typical octahedral trans co-ordination with additional hydrogen bonds between 5-chlorouracilato and the NH(2) groups of ethylenediamine units.

Journal Article↗

Clinical applications of pharmacogenetics in psychiatry.

Pharmacogenetic research has identified response-related mutant variants in metabolic enzymes and drug-targeted receptors. Allelic variants of dopaminergic and serotonergic receptors have been associated with clinical outcome and adverse events such as movement disorders. Deficient metabolic enzymes have been related to drug accumulation and toxic events. This information will help to design safer and more efficient drugs. However, the field is moving rapidly towards a new goal: the application of pharmacogenetics as a clinical tool for the prediction of treatment outcome. The first studies in this direction have proved the feasibility of using genetic information for the prediction of response to antipsychotic drugs and to treatment of Alzheimer's disease. New strategies investigating genes related to specific symptoms and side-effects have produced encouraging results that can contribute to the improvement of the levels and accuracy of the predictions. This review tries to summarise recent advances and provides an overview of future clinical applications.

Humans↗

Dichloro(d-methionine-n,s)platinum(ii) at 130 k.

The asymmetric unit of the title compound, [PtCl2(C5H11NO2S)], a D-methionine derivative, contains two molecules with opposite chirality at the S atoms. The amino acid acts as a bidentate ligand and coordinates simultaneously through the N (amino) and S (thioether) atoms. The molecules are packed in pairs which are connected through two hydrogen bonds between the protonated carboxyl groups, with O.O distances of 2.633 (10) and 2.663 (12) A.

Crystallography, X-Ray↗

Childhood schizotypy and positive symptoms in schizophrenic patients predict schizotypy in relatives.

BACKGROUND: Schizotypy is one phenotypic expression of the familial-genetic liability to schizophrenia, but its precise relationship to frank psychotic symptoms remains unclear. We, therefore, set out to examine the relationships between (a) premorbid personality in schizophrenic patients, (b) the psychopathology they showed, and (c) schizotypal traits in their relatives. METHOD: Ninety consecutively admitted schizophrenic patients were interviewed with the Present State Examination (PSE). Their mothers were interviewed concerning their childhood personality and social adjustment, and 121 of their well relatives were evaluated with three different schizotypal scales. Factor analyses were carried out on (a) the nine main psychotic symptoms from the patients' PSE interview, and on (b) the schizotypal features derived from the scales completed by the first-degree relatives. Correlation coefficients were calculated between premorbid personality traits, and factor scores in probands and in relatives. RESULTS: No relationship was found between childhood schizoid-schizotypal personality traits and any particular dimension of psychopathology in patients. The positive syndrome in patients was correlated with higher scores for relatives on the three schizotypy scales, but did not predict any specific pattern of schizotypy in the relatives. Premorbid schizoid-schizotypal traits were also correlated with schizotypy in the relatives. CONCLUSIONS: Schizotypy in relatives has a familial relationship with schizoid-schizotypal traits in the childhood, and with positive symptoms during the illness, of schizophrenic patients.

Adolescent↗

Stereochemistry of phenyl alpha-nitronyl nitroxide radicals

An extensive investigation of the conformations adopted by the family of phenyl alpha-nitronyl nitroxides has been carried out. A database containing 110 crystal structures was used in a statistical study of the solid-state geometries and conformations of these radicals. This study revealed that the favoured conformations involve a twisted distortion in the imidazolyl rings and a twist between the aromatic and heterocyclic rings in the molecules. As a consequence, these radicals show two types of preferred conformations in the solid state: the pseudo-anti enantiomeric pair and the pseudo-eclipsed pair, the latter type being the most statistically probable. A new chiral member of this group of radicals that bears a lactate moiety, (R)-1, and its corresponding racemic compound, (R,S)-1, have been prepared in order to study the influence of chiral induction from the stereogenic centre on the torsion angle between the aromatic and heterocyclic rings of the alpha-nitronyl nitroxides. The X-ray crystal structures of the enantiopure and racemic compounds, which both reveal chains of molecules sustained by strong O-H...O hydrogen bonds between the carboxylic acid group and the ON group of the radical in the solid, as well as their magnetic properties have been determined. Remarkably, the molecules with a given stereogenic centre have a single helical sense between their component rings, even in the racemic crystal. Chiral induction from the stereogenic centre to the radical unit has also been proved by CD spectroscopy in the solid state. The results of these experiments have been rationalised by ab initio calculations of the spectra.

Journal Article↗

Serum iron in catatonic and noncatatonic psychotic patients.

BACKGROUND: Since low serum iron has been reported in a variety of neuropsychiatric motor disorders, this study was conducted to examine serum iron in patients with a catatonic disorder. METHODS: Forty catatonic and 40 noncatatonic psychotic patients were studied in relation to serum iron levels. The association of serum iron with other clinical variables was also examined. RESULTS: Catatonics had significantly lower mean serum iron than noncatatonics. Ferropenia (serum iron < 50 micrograms/dL) was significantly more prevalent in the catatonic (35%) than in the noncatatonic (7.5%) group. Severity of catatonic symptoms was inversely correlated with level of serum iron, this being due to the negative catatonic symptoms (r = -.34, p = .002). CONCLUSIONS: A subgroup of catatonic patients had ferropenia. Lower serum iron level was associated with both the presence of a categorically defined catatonic syndrome and the severity of the negative catatonic symptoms.

Adult↗

[Ehlers-Danlos's syndrome type II. A family study].

We describe the presence of EDS type II in a family whose diagnosis was lately established by medical consultation of one of its members suffering from hyperuricemia and gout. We stress the relevance of an early diagnosis of this syndrome as a means to prevent and reduce as much as possible cardiovascular, hemorrhagic and surgical systemic complications associated to this disease.

Adult↗

[Lupus myopathy refractory to steroid treatment].

A 58-year-old patient with lupus erythematosus (LE) who needed treatment with azathioprine, due to resistant myopathy to steroids, is presented. Clinical and histological features, as well as therapy, are discussed.

Azathioprine↗

Kinetic mechanism of beta-glucosidase from Trichoderma reesei QM 9414.

beta-Glucosidase is a key enzyme in the hydrolysis of cellulose to D-glucose. beta-Glucosidase was purified from cultures of Trichoderma reesei QM 9414 grown on wheat straw as carbon source. The enzyme hydrolyzed cellobiose and aryl beta-glucosides. The double-reciprocal plots of initial velocity vs. substrate concentration showed substrate inhibition with cellobiose and salicin. However, when p-nitrophenyl beta-D-glucopyranoside was the substrate no inhibition was observed. The corresponding kinetic parameters were: K = 1.09 +/- 0.2 mM and V = 2.09 +/- 0.52 mumol.min-1.mg-1 for salicin; K = 1.22 +/- 0.3 mM and V = 1.14 +/- 0.21 mumol.min-1.mg-1 for cellobiose; K = 0.19 +/- 0.02 mM and V = 29.67 +/- 3.25 mumol.min-1.mg-1 for p-nitrophenyl beta-D-glucopyranoside. Studies of inhibition by products and by alternative product supported an Ordered Uni Bi mechanism for the reaction catalyzed by beta-glucosidase on p-nitrophenyl beta-D-glucopyranoside as substrate. Alternative substrates as salicin and cellobiose, a substrate analog such as maltose and a product analog such as fructose were competitive inhibitors in the p-nitrophenyl beta-D-glucopyranoside hydrolysis.

Benzyl Alcohols↗

The Kahlbaum syndrome: a study of its clinical validity, nosological status, and relationship with schizophrenia and mood disorder.

Kahlbaum described catatonia as a disorder in which mood syndromes were the primary features and characteristic symptoms were the motor ones. However, after Kahlbaum this concept has not been taken into account and catatonia has been identified with motor features alone. In the present study, we assessed the clinical validity of Kahlbaum's concept of catatonia, its nosological position in relation to DSM-III-R, DSM-IV, and Leonhard's diagnostic criteria, and its relationships with schizophrenia and mood disorder. Of 567 patients consecutively admitted due to a functional psychotic disorder, 45 met criteria for catatonia according to Kahlbaum's concept (the Kahlbaum syndrome [KS]). Patients with the KS were differentiated from those with schizophrenia and mood disorders across a number of demographic and clinical variables, the differences being greater with the former than with the latter group. KS does not appear to fit any particular nosologic category, although this issue largely depends on whether schizophrenia and mood disorder are broadly or restrictively defined. When definitions of both disorders are most restrictive, as in the case of the Leonhard system, KS seems better accommodated as a "third psychosis". Overall, the data raise the possibility that KS is either a variant of mood disorder, or a distinct clinical entity.

Adult↗

Proposal of a dimensional model of personality disorders.

During recent years there has been a growing interest on several aspects regarding psychopathology in general and particularly with personality disorders, such as dual psychopathology, comorbidity and dimensional models. Going from the Eysenck's three-factor model to the Fiske's five-factor one, from the Cloninger's psychobiological model to the Millon's biosocial one, a wide variety of personality analysis models, as well as dimensions to which the different personality disorders should be anchored, have been proposed. Here, we propose a dimensional model for personality disorders based on DSM-IV criteria, which are cognitive style (field dependence-independence), prevalent emotion (anger-fear), interpersonal style (submissiveness-dominance), and impulse control (impulsiveness-compulsiveness). We consider that these dimensions are related to different levels of cerebral complexity, assuming that evolution operates under the redundancy principle. Based on these dimensions, a bimodal model in which antisocial personality (high field dependence, anger, dominance, and impulsiveness) and schizotypal personality (low field dependence, fear, submissiveness, and compulsiveness) would be anchored in each extreme is proposed. Between these two extremes, the rest of personality disorders, such as borderline, paranoid, narcissist, histrionic, dependent, passive-aggressive, avoidant, obsessive-compulsive, paranoid, and schizoid, would be anchored.

Humans↗