Search results for "SPAD"
showing 10 items of 90 documents
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region
2014
Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of …
Visioni da Oscar. Giuseppe La Spada
2010
Giuseppe La Spada, giovane pluripremiato designer di origini siciliane, ma ormai divenuto viaggiatore e cittadino del mondo, con il suo lavoro dimostra quanto sia difficile oggi parlare di aree disciplinari nel campo del design, intese come compartimenti stagni, così come eravamo abituati a fare non più di qualche decennio addietro, quando strutturare una mappa del design consentiva di organizzare un quadro sinottico, chiaro e discretizzato, in cui trovavano posto tra gli altri aree, nomi, progetti, correnti, periodi storici. Giuseppe La Spada, the young, multi-prize winning designer of Sicilian origin, is now a traveller and citizen of the world. His work shows just how difficult it is tod…
Reflections on the 25th Congress of the European Society for Pediatric Urology Part 1
2014
The 25th annual meeting of the European Society for Pediatric Urology (ESPU) took place in Innsbruck, Austria from the 7th to 10th of May 2014. The Specialty Chief Editor and nine Associate editors of Frontiers in Pediatrics, Pediatric Urology were in attendance. Each was asked to select the two presentations that they considered most significant. Here, we highlight some of the papers that we found of particular interest and that may impact our practices. This report reflects personal preferences of the authors and does not pretend to be comprehensive or to rank the quality of the presentations. We are aware that some important presentations may not be included. Our selections are presented…
Influence of maternal diet on the development of malformation of the external genitalia – Are we ready to make some recommendations?
2014
The influence of our environment on the development of malformation is well known and, again and again, discussed with great enthusiasm. For example, the supplementation of the diet with folic acid has been proven to prevent neural tube defects already in 1991 [1, 6]. However, despite this well–known fact, only 10.6% of women take folic acid at least four weeks before getting pregnant; although 60% know the increased risk. It was interesting to see, that there were no big differences between the social groups [7]. Some epidemiological studies suggest an increasing risk of disorders / malformation of the external genitalia in males. The influence of the hormonal environment, especially of an…
Impresos del siglo XVIII en el archivo parroquial de L'Alcudia de Crespins
1983
Il progetto di Juvarra per la scala di Palazzo Spadafora a Messina, analisi e ricostruzione digitale
2017
The project by Juvarra for the stair hall of Palazzo Spadafora in Messina, analysis and digital reconstruction This paper presents the results of an historical, architectural and geometrical study on the project by Filippo Juvarra for the stair hall of Palazzo Spadafora in Messina. Some drawings describing the project are today part of different album by Filippo Juvarra preserved in New York and Parigi and show different versions of the stair hall. Although conceived in the first part of Juvarra's career, in 1705, the complex project for Palazzo Spadafora is characterized by originality and sperimentalism, expecially in relation to the panorama of central and southern Italy in the first hal…
Urethrocutaneous fistula repair after hypospadias surgery
2003
To evaluate and compare the success rates of simple and layered repairs of urethrocutaneous fistulae after hypospadias repair.The charts of 72 children who developed fistulae after hypospadias repair were reviewed; 39 had a simple closure of the fistula, whereas 32 had a 'pants over vest' repair, in all cases after excluding an impairment of urine outflow.The success rate at the first attempt was 74% for simple closure and 94% for the layered repair; at the second attempt it was 80% and 100%, the difference being statistically significant for both repairs.Although probably far from an optimal technique for repairing urethrocutaneous fistulae, the pants-over-vest repair allows a good success…
Risks and relevance of preputial reconstruction in hypospadia repair.
2004
To assess the risks related to preputial reconstruction and its relevance for parents of children undergoing hypospadias repair.One-hundred-and-eighty-six children with distal hypospadias underwent circumcision or preputial reconstruction during the hypospadias repair. The type of procedure was chosen according to anatomical conditions and parents preferences after a careful explanation of possible related risks. Postoperative complications, outcomes, parents' satisfaction were assessed comparing circumcised and uncircumcised patients.No statistical differences in urethral complications were found between the two groups. Urethral or meatal strictures occurred in 11 (6.9%) cases after preput…
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North Am…
2011
Objective To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Study design Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were com…