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Bone Diseases as the only clinical manifestation of gaucher disease type
Get PDF83pFil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Guelbert, Norberto. Centro de Estudio de las Metabolopatı´as Congenitas (CEMECO); Argentina.Fil: Guelbert, Norberto. Hospital de Niños Santísima Trinidad; ArgentinaFil: Robledo, Hugo. Instituto de Diagnóstico por Imágenes, Conci-Carpinella; ArgentinaFil: Becerra, Walter. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Clínica Pediátrica; Argentina.Fil: Becerra, Walter. Centro de Estudio de las Metabolopatías Congenitas (CEMECO); ArgentinaFil: Becerra, Walter. Hospital de Niños Santísima Trinidad; ArgentinaFil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Angaroni, Celia. Centro de Estudio de las Metabolopatı´as Congenitas (CEMECO); ArgentinaFil: Giner Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Giner Ayala, Alicia. Centro de Estudio de las Metabolopatı´as Congenitas (CEMECO); Argentina.Fil: Giner Ayala, Alicia. Hospital de Niños Santísima Trinidad; ArgentinaFil: Ramirez Oller, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Ramirez Oller, Ana María. Centro de Estudio de las Metabolopatías Congenitas (CEMECO); Argentina.Fil: Dodelson Kremmer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; ArgentinaFil: Dodelson Kremmer, Raquel. Centro de Estudio de las Metabolopatías Congenitas (CEMECO); ArgentinaFil; Dodelson Kremmer, Raquel. Hospital de Niños Santísima Trinidad; Argentina.Gaucher disease (GD) is a lysosomal disease, due to the deficiency of Iˆ2-glucosidase, characterized by invol vement of hematopoietic organs such as the spleen, liver, bone marrow, lung, and bone. Bone is the second most commonly affected structure, presenting bone infiltration and macrophage interleukins that determine osteoblast/osteoclast imbalance and a deleterious effect on bone. This impacts a patient’s quality of life, causing pain, fracture, and orthopedic surgery require ments. We present a patient without hematologic or viscera involvement but with skeletal manifestations as the only clini cal finding.Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Guelbert, Norberto. Centro de Estudio de las Metabolopatı´as Congenitas (CEMECO); Argentina.Fil: Guelbert, Norberto. Hospital de Niños Santísima Trinidad; ArgentinaFil: Robledo, Hugo. Instituto de Diagnóstico por Imágenes, Conci-Carpinella; ArgentinaFil: Becerra, Walter. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Clínica Pediátrica; Argentina.Fil: Becerra, Walter. Centro de Estudio de las Metabolopatías Congenitas (CEMECO); ArgentinaFil: Becerra, Walter. Hospital de Niños Santísima Trinidad; ArgentinaFil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Angaroni, Celia. Centro de Estudio de las Metabolopatı´as Congenitas (CEMECO); ArgentinaFil: Giner Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Giner Ayala, Alicia. Centro de Estudio de las Metabolopatı´as Congenitas (CEMECO); Argentina.Fil: Giner Ayala, Alicia. Hospital de Niños Santísima Trinidad; ArgentinaFil: Ramirez Oller, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; Argentina.Fil: Ramirez Oller, Ana María. Centro de Estudio de las Metabolopatías Congenitas (CEMECO); Argentina.Fil: Dodelson Kremmer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Cínica Pediátrica; ArgentinaFil: Dodelson Kremmer, Raquel. Centro de Estudio de las Metabolopatías Congenitas (CEMECO); ArgentinaFil; Dodelson Kremmer, Raquel. Hospital de Niños Santísima Trinidad; Argentina.Otras Ciencias de la Salu
Fabry disease: an advance in the diagnostic laboratory for recognition of female carriers
Get PDFFil: Giner Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Delgado, María Andrea. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra Química Biológica A; Argentina.Fil: Gómez, N. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Peralta, Lourdes. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fabry Disease (FD) is an X-linked lysosomal disorder caused by deficiency of a-galactosidase A (a-galA), codified by GLA gene. Diagnosis of patients with ompatible phenotype begins with a-galA activity assay. In male patients, enzyme deficiency is confirmatory; in female patients molecular analysis is required.
Objective: To validate in our laboratory, a-galA–b-glucuronidase ratio determination in dried blood spots (DBS) to guide biochemical diagnosis of FD, especially in heterozygotes. Patients: Index case was a man with classical FD. We studied 11 male and 11 female patients belonging to an Argentinean family, and 24 healthy controls. Methods: Enzymatic determinations: a-galA (DBS and leukocytes) and b-glucuronidase (DBS) by fluorometric assays. Analysis of GLA gene was done by polymerase chain reaction/sequencing. Results: The missense mutation p.Ala292Thr was identified in the index case. In the family member studied, 9 hemizygous patients and 8 heterozygous patients were diagnosed. In DBS a-galA determination results, 9 hemizygotes (0-0,11) and 4/8 terozygotes (0,23-0,49) were detected (normal range: 0.58-3.38 nmol/h/mL). The a-galA determination in leukocytes was deficient in the 9 hemizygotes (0- 2.9) and 7 of 8 heterozygotes (4.1-17.8; normal range: 21.2-41.1 nmol/h/mg). For a-GalA–b-glucuronidase ratio in DBS normal controls, cutoff value was established over mean less 1 standard deviation (0.029). Ratio lead to identification of 4 of 4 analyzed hemizygotes (0-0.002) and 8 of 8 heterozygotes (0.007-0.023). Although in carriers sensitivity was 100%, specificity in normal controls declined to 85.7% (4 false positives). The a-GalA–b-Glucuronidase ratio proved to be a useful and accessible tool to guide the biochemical FD diagnosis of female carriers, prior to molecular analysis.Fil: Giner Ayala, Alicia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Delgado, María Andrea. Universidad Nacional de Córdoba. Facultad de Odontología. Cátedra Química Biológica A; Argentina.Fil: Gómez, N. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Peralta, Lourdes. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Otras Ciencias de la Salu
Urea cycle disorders: clinical, biochemical and genetic findings in agentinean patients
Get PDFFil: Laróvere, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Silvera Ruiz, Silene. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Arranz, José. Hospital Vall Dhebron. Laboratorio de Metabolopatía; España.Fil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Antonozzi, Sandra. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Bezard, Miriam. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Dodelson de kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Urea cycle disorders (UCD) encompass several enzyme deficiencies with a wide clinical spectrum from asymptomatic to severe, mostly with cerebral damage.
Objective: to communicate the autochthonous experience in the recognition of UCD. The diagnosis protocol included phenotype compatibility, metabolites analysis by HPLC, and genetic analysis by PCR, restriction assays, sequencing and MLPA.
We recognised: i) Ornithine transcarbamylase deficiency, 11 patients: 2 males with neonatal onset (OTC mutations: delExon2-10, c.533C>T), 4 males with late onset (c.216+1G>A, c.386G>A, c.622G>A, c.829C>T), 5 females (delExon2-10, c.533C>T, c.452T>G, c.540+1G>A); ii) Argininosuccinate synthetase deficiency, Citrullinemia type I (CTLN1), 16 patients from 10 unrelated families from San Luis
Province, all showed the same ASS1 mutation: c.1168G>A/c.1168G>A and died during neonatal period. This change was studied on their relatives and 172 healthy volunteers. The calculated carrier frequency in that population was 4.1%, suggesting the incidence of CTLN1 to be 1:2,427; iii) Argininosuccinate lyase, 1 patient with biochemical diagnosis, died during neonatal period.
Our experience remarks: a) a high morbi-mortality at least in our region, despite an early diagnosis and prompt treatment, b) OTC heterozygotes showed severe manifestations and mostly early onset, c) due the high CTLN1 incidence in a risk population, we recommend a preconception carrier screening.Fil: Laróvere, Laura. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Silvera Ruiz, Silene. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Arranz, José. Hospital Vall Dhebron. Laboratorio de Metabolopatía; España.Fil: Angaroni, Celia. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Guelbert, Norberto. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Antonozzi, Sandra. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Bezard, Miriam. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Dodelson de kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro de Estudio de las Metabolopatías Congénitas; Argentina
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
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