1,720,966 research outputs found
Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
No full textBackground: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal
epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related
brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum
obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying
PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported.
Case presentation: R.F. was born at term after prolonged labour, by induced vaginal delivery with the Kristeller
manoeuvre. He presented with severe asphyxia and asystoly. Immediate cardiopulmonary resuscitation promptly
restored cardiorespiratory parameters, allowing for early extubation 30 min after. During the following hours, severe
axial muscle hypotonia with an increased tone of the limb extensor muscles became evident. The absence of crying
and archaic reflexes persisted and there was an onset of generalized tonic or clonic seizure. First level metabolic and
inflammatory markers were within the normal range. An inherited metabolic disease was then suspected, due to the
persistent clinical signs of severe neurological damage without any detectable septic parameter. GA-I was
assessed and specific treatment started without any clinical improvement, although ensuring adequate growth
and metabolic control. Thereafter, the baby developed a severe encephalopathy with drug resistant epileptic
seizures. The progression of the neurological damage and a CVC-related sepsis led him to exitus at 2 years.
Conclusions: To the best of our knowledge, this is the first case of early post-natal onset of GA-I reported in
literature to date, in the absence of expanded newborn screening (NBS) programme. As expanded NBS programmes
for inborn errors of metabolism have not yet been internationally adopted, we are of the opinion that such diseases
may well be hidden by misleading signs and symptoms imputable to other more frequent harmful clinical conditions.
Moreover, it would be advisable that neonatologists be trained to include GA-I in the differential diagnosis of
neurological damage secondary to PA
FISH characterization of a supernumerary r(1)(:: cen -> q22 :: q22 -> sq21 ::) chromosome associated with multiple anomalies and bilateral cataracts
No full textWe describe the case of a 15-year-old girl with multiple congenital anomalies, dysmorphic features, severe kyphoscoliosis, growth and mental retardation, and the absence of speech, in whom 35% of the cells carried a supernumerary ring chromosome 1. Fluorescence in situ hybridization (FISH) analysis using YAC/BAC clones spanning the region from 1p13 to 1q21 made it possible to determine the genomic content and structure of the ring(1), which was found to consist of the cytogenetic bands 1q21-22. A complex structure was delineated in the ring chromosome with a partial inverted duplication delimited by markers WI-7732 and WI-607, with WI-7396 and WI-8386 being the boundaries of the single copy segment. Comparison of the clinical signs of other patients with mosaic r(1) reported in the literature allowed the identification of a patient sharing a number of clinical signs including cataracts. Given that mutations of the GJA8 gene encoding connexin 50 (Cx50) and mapping to 1q21 have been associated with the presence of cataracts, it is possible that a gain in copy number or a rearrangement of GJA8 may contribute to cataractogenesis. (C) 2001 Wiley-Liss, Inc
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe 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
Get PDF“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
Get PDFWe 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
Get PDFWe 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
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
- …
