1,720,971 research outputs found
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions
No full textA10-year-old boy presented with a severe and diffuse
mosaic skin hypopigmentation running(in narrow
bands)along the lines of Blaschko associated with mo-
saic areas of alopecia,facial dysmorphism with midface
hypoplasia,bilateral punctate cataract,microretrogna-
thia,short neck,pectus excavatum,joint hypermobility,
mild muscular hypotonia,generalized seizures,and
mild mental retardation.Cranial magnetic resonance
imaging revealed hypoplastic corpus callosum(primar-
ily posterior),subcortical band heterotopia,and diffuse
subcortical,periventricular cystic-like lesions.Similar
dysmorphic features were observed in the child’s
mother,but with no imaging abnormalities.The facial
phenotype coupled with the cysts in the brain was
strongly reminiscent of the oculocerebrorenal Lowe
syndrome.Full chromosome studies in the parents
and the proband and mutation analysis on peripheral
blood lymphocytes(and on skin cultured fibroblasts
from affected and unaffected skin areas in the child)
in the genes for subcortical band heterotopia(DCX
(Xq22.3-q23)],lissencephaly(PAFAH1B1,alias LIS1,
at17p13.3),and oculocerebrorenal syndrome of Lowe
(OCRL atXq23-q24)]were unrevealing.This constel-
lation of multiple congenital anomalies including skin
hypopigmentation and eye,musculoskeletal,and ner-
vous system abnormalities was sufficiently character-
ized to be regarded as a novel example of pigmentary
mosaicism of the Ito type(i.e.,hypomelanosisof
Ito)
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
Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy
No full textA newborn girl with hemorrhagic purpura, suspected neonatal sepsis, and pale and dry skin was lethargic with remarkable hepatosplenomegaly, convergent strabismus, severe anemia, and elevated alkaline phosphatase activity. Radiographs showed a generalized increase in bone density, small medullary cavities, sclerosis of the skull and vertebrae, transverse wavy stripes of sclerotic bone in the metaphyses, and bone-in-bone appearance in phalanges of hands and feet. On this basis, she was diagnosed with malignant infantile osteopetrosis. On the first day of life, the infant was given a blood transfusion and vitamin K (1 mg intravenously [iv]). Corticosteroid therapy was started with prednisone (2 mg/kg per day). She showed marked improvement of symptoms. On the 26th day and 42nd day of life, she received additional blood transfusions. On the 49th day, the patient was discharged and corticosteroid therapy was continued at a regimen of 5 mg/day. Subsequent blood sample analyses revealed normal values for age. At 1 year of life, a bone marrow sample showed normal white and red cell lineages. X-ray confirmed attenuation of the bone sclerosis; therefore, bone marrow transplantation (BMT) was not implemented. At the age of 1.5 years, prednisone therapy was discontinued gradually and withdrawn before the age of 2 years. Subsequent follow-up showed normalization of all radiological and hematologic parameters. At present, the patient is 3 years old and appears healthy with apparently complete regression of the disease
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
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