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    Pili canaliculi: a familial study

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    The pili canaliculi is a rare defect, first described in 1973 by Dupre’ et al. as “le syndrome des cheveux incoiffables. The condition, characterized by dry, frizzy, unruly, rough and blond hair probably is due to a keratinization defect. The disorder may be autosomal dominant, recessive with variable levels of penetrance or sporadic . Sometimes it is associated with ectodermal dysplasia , retinal dysplasia , dental anomalies, ichthyosis vulgaris, atopic eczema, progressive alopecia areata, hamartomas, lichen sclerosus, woolly hair nevus, brachydactyly, pili tort, digit and nail abnormalities. We report a three years old child with thin, blond, uncombable hairs, atopic dermatitis and onychoschizia. The maternal grandmother were said to have the same hairs in infancy. The mother had normal hairs. A study with scanning electron microscopy revealed the presence of typical triangular cross-sectional shapes with indentation, longitudinal grooving and flattening of the hair surfaces. These morphologic features were discontinuous and found on different surfaces along the length of the hair. The overlying cuticle of the hair was instead normal. These findings were present in many hairs of child and grandmother, but in few hairs of the mother. The repeating of this peculiar aspect in the hairs within this family suggests that inheritance pattern is autosomal dominant. Moreover, the characteristic hair morphology can be observed in relatives, without hair abnormality. Since, the disorder could be associated to other extracutaneous abnormalities, it is indispensable a follow-up of the affected patient

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The 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

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    “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

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    We 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

    Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen

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    Bullous dermolysis of the newborn is a dominant or recessive inherited subtype of dystrophic epidermolysis bullosa characterized by the tendency to spontaneously stop blistering within the first months of life. Here we report two siblings with bullous dermolysis of the newborn who were born prematurely and have a novel recessive mutation, p.Pro2259Leu, in the triple helix domain of type VII collagen. We discuss the possible relationship between genotype and prematurity and clinical manifestations in these patients

    Are Anti-TNF-α Agents Safe for Treating Psoriasis in Hepatitis C Virus Patients with Advanced Liver Disease? Case Reports and Review of the Literature

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    Tumor necrosis factor-alpha (TNF-α) inhibitors represent an effective treatment for severe psoriasis in hepatitis C virus (HCV) patients. The literature reports mainly on short-term treatment in patients with chronic hepatitis with minimum-to-moderate activity with an acceptable safety profile. We report the first 2 cases of hepatocellular carcinoma (HCC) arising in HCV psoriatic patients with advanced liver disease during long-term treatment with etanercept. Our first patient, known to have had HCV infection for 41 years, developed an HCC after 21 months of therapy with etanercept (50 mg/week). The second patient, HCV+ for 20 years, was treated for 58 months with the same therapy, and despite no signs of liver function impairment was diagnosed with HCC. Both of them presented with cirrhosis, which was diagnosed 9 and 5 years earlier, respectively. It remains to be clarified whether there is any connection between psoriasis treatment with anti-TNF-α agents and the development of HCC in HCV-infected patients. Further long-term, follow-up studies and registries of HCV patients with mild/moderate activity may contribute to clarify this issue
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