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Clinical and genetic features of familial pituitary adenomas.
No full textpeer reviewedInherited or familial pituitary tumor syndromes such as multiple endocrine neoplasia type 1 and Carney complex provide an important insight into the genetics and molecular pathology of endocrine cancers. Our understanding of these conditions is expanding rapidly due to the identification of the genes and proteins affected and the availability of murine knockout models. The successes achieved to date in understanding multiple endocrine neoplasia type 1 and Carney complex have helped in the identification and study of new inherited pituitary tumor syndromes such as isolated familial somatotropinomas. This review assesses the current status of research into the clinical features, genetics and molecular pathologies of multiple endocrine neoplasia type 1, Carney complex, and isolated familial somatotropinomas, and details ongoing work to delineate familial isolated pituitary adenomas, a potentially new clinical entity
Recurrence of GH-secreting pituitary adenomas during puberty in children with germline AIP mutations: a clinical challenge
No full textAggressive prolactinoma in a child related to germline mutation in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene.
No full textThe objective of this study was to describe a familial screening for AIP
mutations in the context of aggressive prolactinoma in childhood. A 12-year-old
boy, presented headaches and bilateral hemianopsia. He had adequate height and
weight for his age (50(th) percentile), Tanner stage G1 P1. His bone age was 10
years. Prolactin was 10.560 ng/mL (3-25), FSH and LH were undetectable, IGF-1,
TSH, Free T4, ACTH, and cortisol were within normal ranges. MRI showed a
pituitary macroadenoma, 5.3 X 4.0 X 3.5 cm with compression of the optic chiasm,
bilateral cavernous sinus invasion, encasement of carotids, and extension to
clivus. Surgical debulking was performed. Resistance to cabergoline was
characterized and he was submitted to two surgeries and radiotherapy.
Immunohistochemical evaluation included prolactin, ACTH, GH, FSH, LH,AIP, c-erb
B2, Ki-67, and p53. Genomic DNA was isolated from the index case and 48
relatives, PCR and sequencing were performed.A germline A195V mutation in AIP was
identified in the index case and in five asymptomatic relatives. Germline
mutations in the AIP gene may be involved in the predisposition to pituitary
adenoma formation, as cause or co-factor in pathogenesis of aggressive tumors in
young patients
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
Familial pituitary adenomas.
No full textLes adénomes hypophysaires sont des tumeurs intracrâniennes bénignes qui constituent un problème médical en raison de la surproduction
hormonale et du risque de compression des structures adjacentes. La plupart surviennent dans un contexte sporadique tandis qu’un petit pourcentage
se développe dans un contexte de syndrome familial comme les néoplasies endocriniennes multiples de type I (NEM1), le complexe de
Carney (CNC) et les adénomes hypophysaires familiaux isolés (FIPA), plus récemment décrits, ainsi que les NEM4. Alors que les altérations
génétiques responsables de la formation d’adénomes sporadiques demeurent largement inconnues, des avancées considérables ont été réalisées
dans l’identification des gènes responsables de ces syndromes familiaux. Les mutations des gènes de la Ménine et de PRKAR1A ont été identifiées
chez la majorité des patients respectivement porteurs de NEM1et de CNC. Environ 15% des fratries de FIPA présentent des mutations du gène
aryl hydrocarbon receptor-interacting protein (AIP). Les mutations du gène CDKN1B codant p27Kip1 ont été identifiées dans les cas de NEM4. Les
tumeurs familiales semblent différer de leurs homologues sporadiques, non seulement en termes de causes génétiques, mais aussi de caractéristiques
cliniques. L’observation suggère que, spécialement dans les NEM1et les FIPA, ces tumeurs sont plus agressives et touchent des patients à un âge
plus jeune, justifiant d’autant plus l’importance de leur diagnostic précoce. Dans cette revue, nous résumons les caractéristiques génétiques et
cliniques de ces adénomes hypophysaires familiaux.Pituitary adenomas are benign intracranial neoplasms that present a major clinical concern because of hormonal overproduction or compression
symptoms of adjacent structures. Most arise in a sporadic setting with a small percentage developing as a part of familial syndromes such as
multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and the recently described familial isolated pituitary adenomas (FIPA) and
MEN-4. While the genetic alterations responsible for the formation of sporadic adenomas remain largely unknown, considerable advances have
been made in defining culprit genes in these familial syndromes. Mutations in MEN1 and PRKAR1A genes are found in the majority of MEN1
and CNC patients, respectively. About 15% of FIPA kindreds present with mutations of the aryl hydrocarbon receptor-interacting protein (AIP)
gene. Mutations in the CDKN1B gene, encoding p27Kip1 were identified in MEN4 cases. Familial tumours appear to differ from their sporadic
counterparts not only in genetic basis but also in clinical characteristics. Evidence suggests that, especially in MEN1 and FIPA, they are more
aggressive and affect patients at younger age, therefore justifying the importance of early diagnosis. In this review, we summarize the genetic and
clinical characteristics of these familial pituitary adenomas
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