1,721,043 research outputs found
Phenotypic variability,neurological outcome and genetics background of 6-pyruvoil-tetrahydropterin synthase deficiency
No full textClin Genet. 2010 Mar;77(3):249-57. Epub 2009 Jan 3.
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.
Source
Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy. [email protected]
Abstract
This study aimed to investigate the clinical variability and factors implied in the outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency (PTPSd). Biochemical and clinical phenotype, treatment variables, and 6-pyruvoyl-tetrahydropterin synthase (PTS) genotype, were explored retrospectively in 19 Italian patients (12 males and 7 females, aged 4 months to 33 years). According to the level of biogenic amines in cerebrospinal fluid (CSF) at the diagnosis, the patients were classified as mild (6) (normal level) or severe (13) (abnormal low level) form (MF and SF, respectively). Blood Phe ranged from 151 to 1053 micromol/l in MF (mean +/- SD: 698 +/- 403) and 342-2120 micromol/l in SF (mean +/- SD: 1175 +/- 517) (p = 0.063). Patients with MF showed a normal neurological development (a transient dystonia was detected in one), while all SF patients except one presented with severe neurological impairment and only four had a normal neurological development. The outcome of the SF was influenced by the precocity of the treatment. Serial CSF examinations revealed a decline of 5-hydroxyindolacetic acid in MFs and an incomplete restoration of neurotransmitters in SFs: neither obviously affected the prognosis. PTS gene analysis detected 17 different mutations (seven so far unreported) (only one affected allele was identified in three subjects). A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd
Distribution and age of onset of psychopathological risk in a cohort of children with Down syndrome in developmental age.
No full textBackground: Aim of the study is to intercept specific characteristics and psychiatric comorbidity in Down Syndrome (DS). The study describes the distribution and the age of specific aspects of behavioral phenotype in a sample of subjects with DS.
Methods: Psychopathological risk has been evaluated in a 97 DS patient cohort, aged 1 to 18 years, during regular follow-up neuropsychiatric visit and through administration of Child Behavior Checklist (CBCL); Childhood Autism Rating Scale (CARS-T) was assessed to verify the presence of autistic behaviors.
Results: The results show the presence of specific psychopathological risk factors in 90% of the sample. 7% of sample presents autistic features. The risk of psychopathology is independent of the degree of intellectual disability.
Conclusion: The high frequency of psychopathological risk factors indicates the need for accurate monitoring to intercept specific characteristics, such as in the case of comorbidity for autism. The search for specific psychopathological factors is a little explored aspect to date, as evidenced by the literature. Despite the studies available to date highlight the presence of psychopathological vulnerability in DS, so far there are only few reports that explore this issue systematically.
Keywords: Attention deficit/hyperactive disorder; Autism Spectrum disorder; Down syndrome; Oppositional defiant disorder;psychopathological risk
Argininosuccinico-aciduria subacuta con insolita presentazione. Subacute arginino succinic aciduria with unusual presentation.
No full textRare association of hyperglycinuria and lenticonus in two members of the same family.
No full text2 cases of posterior lenticonus associated with hyperglycinuria without iminoaciduria, found in the same family, were examined. After a review of the literature, the rarity of this association is stressed
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
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Full text linkWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
- …
