1,720,966 research outputs found
Pregnancy in patients with Turner's syndrome: Six new cases and review of literature
No full textPregnancy in women with Turner's syndrome (TS) is an exceptional event, but is possible in 2% of cases. It can occur in patients with structural anomalies of the X chromosomes in which the Xq13-q26 region, containing the genes that are thought to control ovarian function, is spared; or in patients with a mosaic karyotype containing an 46,XX cell line, which preserves ovarian function. In our Centre we observed six cases of women with Turner's syndrome conceiving. Out of 13 pregnancies, there were six abortions and eight live-births; among the latter, four babies exhibited malformations. Reviewing the literature shows that out of 160 pregnancies which occurred in 74 women with TS, 29% ended in spontaneous abortion, 7% led to the perinatal death of the fetus, 20% gave birth to malformed babies (TS, Down's syndrome, etc.) and only in 38% of cases were healthy children born. This study suggests that the rare TS patients who are able to procreate should undergo prenatal diagnosis techniques. In sterile TS patients the use of artificial fertilization techniques is a possible solution
Adult height in sixty girls with Turner syndrome treated with growth hormone matched with an untreated group
No full textThe main clinical feature of Turner syndrome (TS) is growth failure, with a mean spontaneous adult height ranging between 136 and 147 cm, according to the specific curves of various populations. Though a classical deficiency of GH has not been generally demonstrated, GH has been administered since 1980 in trials, using replacement doses just initially, with a subsequent trend to increase it. We report the outcome of GH therapy given at the fixed dose of 0.33 mg/kg/week in 60 TS girls observed until adult height; 59 untreated TS girls, matched for auxological, karyotypical characteristics and time of observation, born within the same decade served as controls to evaluate GH efficacy. The calculation of the gain in cm over PAH was performed on specific Italian Turner curves, as well as height evaluation as SD score and growth velocity. The same calculations were made using Lyon references and Tanner standards. The mean CA at the beginning of GH treatment was 10.9 +/- 2.76 yr (range 4.5-15.9). Mean adult height of treated group was 151 +/- 6.1 cm with a gain over the PAH calculated at start of therapy (142.9 +/- 5.3 cm) of 8.2 +/- 3.9 cm. Ns change was observed be-tween the PAH at first observation (143.6 +/- 7.0 cm) and adult height (144.3 +/- 5.6 cm) in the control group. Treatment was well tolerated, no relevant side effects were observed, glucose metabolism resulted no more affected than in untreated subjects, IGF-I levels remained within 2 SD. Our results in 60 TS girls, though the dose remained unchanged throughout the treatment, show a good response, characterized by a striking variability in each patient (mean gain in cm over PAH at adult height of 8.17 +/- 3.9, range 3-21 cm), and significant also in comparison with the control group. As the chronological age at start of therapy ranged between 4.5 to 15.9 yr, the results were further evaluated dividing the patients into two groups, according to the age, 11 yr. Thirty girls were 11 yr (mean 13.2 +/- 1.4 yr). The gain in cm over the PAH in each group was, respectively, 8.1 +/- 3.4 and 8.2 +/- 4.3 cm without any significant difference between the two groups, showing no negative correlation between the CA at the beginning of GH and the response to treatment. (c) 2005, Editrice Kurtis
Spontaneous pubertal development in Turner's syndrome
No full textThe incidence of spontaneous puberty in Turner's syndrome is reported to be between 5-10% and, more recently in some series, as high as 20%. In an Italian retrospective multicenter study, of 522 patients older than 12 yr with Turner's syndrome, 84 patients (16, 1%) presented spontaneous pubertal development with menarche that occurred at a chronological age of 13.2 +/- 1.5 yr (mean +/- SD) and a bone age of 12.9 +/- 1.9 yr. Karyotype distribution in the whole group was as follows: 52.1% (272 patients) X-monosomy (45,X), 13.2% (69 patients) mosaicism characterized by X-monosomy and cellular line with no structural abnormalities of the second X, 19.9% (104 patients) mosaicism characterized by X-monosomy and cellular line with structural abnormalities of the second X, and 14.8% (77 patients) structural abnormalities of the second X. Menstrual cycles were still regular in 30 patients at 9.2 +/- 5.0 yr after menarche, 12 developed secondary amenorrhea 1.6 +/- 2.0 yr after menarche, and 19 had irregular menstrual cycles 0.9 +/- 1.8 yr after menarche. As signs of spontaneous puberty developed in 14.0% of X-monosomic patients and in 32.0% of patients with cell lines with more than one X, the presence of the second X stems to have a cardinal influence on the appearance of spontaneous puberty. Spontaneous pregnancy occurred in 3 patients (3.6%). The presence of chromosomal abnormalities and malformations in 2 of 3 pregnancies lad us to agree with other investigators in discouraging unassisted pregnancies. Treatment with GH does not seem to exert any influence on either the age of onset or the prevalence of spontaneous pubertal development in Turner's syndrome. The increased percentage of spontaneous menarche is Turner's syndrome reported in the recent literature might be due to increased ascertainment by diligent screening for Turner's syndrome in girls with short stature and mild or no Turner's syndrome stigmata, even though they may be menstruating
Precocious puberty in two girls with Chiari I malformation: a contribution to a larger use of brain MRI in the diagnosis of central precocious puberty.
No full textUp to now Chiari malformation has been reported only in four subjects with precocious puberty, with a prevalence among boys. This article describes the case of two female children affected by progressive precocious puberty detected through brain magnetic resonance imaging (MRI). Brain imaging, even without neurological signs, can identify patients at risk of developing subsequently severe neurological symptoms. Our observation supports the usefulness of brain MRI both in males and females, even when no symptoms are present, to identify and detect high risk cases. However, there is no consensus in Literature in performing MRI in all the patients of both sexes with central precocious puberty, due to its high costs
Combined treatment with gonadotropin-releasing hormone analog and growth hormone in central precocious puberty
No full textGnRH analogs (GnRHa) arrest pubertal development and slow growth velocity (GV) and bone maturation, thus improving adult height in central precocious puberty (CPP). In some patients, however, GV decreases to such an extent that it compromises the improvement in predicted adult height (PAH). Fourteen children (10 girls and 4 boys) with idiopathic CPP whose GV during GnRHa treatment decreased below the 25th percentile for chronological age with no improvement in PAH received GH at a dose of 0.3 mg/kg . week, sc, 6 days/week for 2-3 yr. Fourteen children (10 girls and 4 boys) with idiopathic CPP, matched for bone age IBA), chronological age, and duration of GnRHa treatment, who showed the same growth deceleration but refused GH treatment, served as the control group. In girls, GV as so score for BA improved from -3.4 +/- 0.5 to -2.5 +/- 0.5 after 3 yr of combined treatment; PAH significantly improved from 152.7 +/- 1.7 cm (before GnRHa) and 153.5 +/- 1.7 cm (before GnRHa and GH) to 167.1 +/- 3.0 cm after 3 yr of combined treatment (P < 0.01 us. pretreatment with GnRHa plus GH). In boys, GV as SD score for BA remained unchanged from -2.0 +/- 1.0 to -2.2 +/- 1.2 after 2 yr of combined treatment; PAH increased from 166.6 +/- 4.8 cm (before GnRHa) and 166.2 +/- 4.9 (before GnRHa plus GH) to 171.1 +/- 6.1 cm after 2 yr (P = NS). In the control group, in girls after 6 yr of GnRHa treatment, height in so score for BA improved from -1.0 +/- 0.3 to -0.1 +/- 0.4 (P = NS), and PAH significantly improved from 155.5 +/- 2.0 to 161.5 +/- 2.1 cm (P < 0.05); in boys after 4 yr of GnRHa treatment, height in so score for BA improved from -1.1 +/- 0.3 to -0.3 +/- 0.4 (P = NS), and PAH changed from 172.6 +/- 3.6 to 170.3 +/- 3.6 cm (P = NS). Eight of 10 girls receiving GH plus GnRHa treatment had an actual height higher than PAH and their target height. The results of our long term study indicate that in children with CPP who show a marked decrease in GV during GnRHa treatment, GH administration remarkably improves growth velocity and predicted adult height, especially in girls
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
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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