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1.
Minerva Urol Nefrol ; 71(6): 597-604, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31144491

RESUMEN

BACKGROUND: The aim of this study was to evaluate intra- and perioperative outcomes of a single high volume open radical prostatectomy (ORP) surgeon, during his learning curve period for robot-assisted radical prostatectomy (RARP) and extended pelvic lymph node dissection (ePLND). METHODS: The study included 264 intermediate-high risk prostate cancer patients, treated by ORP + ePLND or RARP + ePLND, prospectively collected. Descriptive statistics compared clinical and pathological variables between groups. Bivariate (Pearson) correlation analysis assessed the relationship between the number of lymph node (LN) removed, positive surgical margins (PSM), surgical time and the number of procedures performed per group. RESULTS: pT stage and Gleason score (GS) were lower in RARP than in ORP group (both P=0.04), while PSM were more frequent in the RARP group (40% vs. 25%; P=0.02). However, PSM decreased with the increase of RARP procedures. The number of LNs removed was 25 and 22, in RARP and ORP group (P=0.03). However, LN+ rate did not differ between groups (11% vs. 16%; P=0.216). In the RARP group, overall surgical time and ePLND time decreased with the increase of surgical procedures (all P<0.001). CONCLUSIONS: RARP requires significant learning curve to reduce operative room time and obtain PSM comparable to those of an ORP high-volume surgeon. On the contrary, the quality of ePLND during RARP seems to be not related to the number of procedures performed, allowing removal of a number of LNs that is clinically comparable to ORP.


Asunto(s)
Escisión del Ganglio Linfático/métodos , Pelvis , Prostatectomía/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Curva de Aprendizaje , Masculino , Márgenes de Escisión , Persona de Mediana Edad , Clasificación del Tumor , Tempo Operativo , Estudios Prospectivos , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/cirugía , Cirujanos , Resultado del Tratamiento
2.
Front Surg ; 5: 52, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30246012

RESUMEN

Objectives: To evaluate the frequency and distribution of pelvic nodes metastases, in intermediate-high risk prostate cancer (PCa) patients (pts), who underwent open radical prostatectomy (ORP) and superextended pelvic lymph node dissection (sePLND). Patients and Methods: We retrospectively evaluated 630 consecutive pts with clinically localized, intermediate-high risk PCa, treated with ORP and sePLND from 2009 to 2016 at a single institution. The sePLND always removed all nodal/fibro-fatty tissue of the internal iliac, external iliac, obturator, common iliac, and presacral regions. Results: Positive lymph nodes (LN+) were found in 133 pts (21.1%). The median number of removed nodes and LN+ was 25 and 1, respectively. LN+ were found in 64 (48.1%), 58 (43.6%), 53 (39.8%), 16 (12%), and 20 (15%) pts and were present as a single site in 27 (20.3%), 22 (16.5%), 20 (15%), 0, and 6 (4.5%) cases in the internal iliac, external iliac, obturator, common iliac, and presacral chain, respectively. An ePLND would have correctly staged 127 (95%) pts but removed all LN+ in only 97 (73%) pts. Presacral nodes harbored LN+ in 20 patients. Among them, 18 were high-risk patients. Moreover, all but 1 pts with common iliac LN+ were in high risk group. Conclusions: These results suggest that removal of presacral and common iliac nodes could be omitted in intermediate risk pts. However, a PLND limited to external iliac, obturator, and internal iliac region may be adequate for nodal staging purpose, but not enough accurate if we aim to remove all possible site of LN+ in high risk pts.

3.
J Hum Genet ; 62(2): 277-290, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27734839

RESUMEN

Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations. We report 70 novel mutations and the frequencies of the major causative OCA genes that are as follows: TYR (44%), OCA2 (17%), TYRP1 (1%), SLC45A2 (7%) and SLC24A5 (<0.5%). An additional 5% of patients had GPR143 mutations. In 19% of cases, a second reliable mutation was not detected, whereas 7% of our patients remain still molecularly undiagnosed. This comprehensive study of a consecutive series of OCA/OA1 patients allowed us to perform a clinical evaluation of the different OCA forms.


Asunto(s)
Albinismo Oculocutáneo/diagnóstico , Albinismo Oculocutáneo/genética , Antígenos de Neoplasias/genética , Antiportadores/genética , Proteínas del Ojo/genética , Glicoproteínas de Membrana/genética , Proteínas de la Membrana/genética , Proteínas de Transporte de Membrana/genética , Oxidorreductasas/genética , Adulto , Anciano , Pruebas Genéticas , Humanos , Masculino , Melaninas/biosíntesis , Persona de Mediana Edad
4.
Eur J Med Genet ; 58(2): 66-70, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25542770

RESUMEN

Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and PAX6 genes. In syndromic patients the presence of genome imbalances through array CGH was also investigated. No mutations were found for OTX2 and PAX6 genes. Three causative SOX2 mutations were found in subjects with syndromic A. In a subject with syndromic signs and monolateral M, two de novo 6.26 Mb and 1.37 Mb deletions in 4q13.2q13.3 have been identified. A SOX2 missense (p.Ala161Ser) mutation was found in 1 out of 39 a subject with non-syndromic monolateral M. Alanine at position 161 is conserved along phylogeny and the p.Ala161Ser mutation is estimated pathogenic by in silico analysis. However, this mutation was also present in the unaffected patient's daughter.


Asunto(s)
Anoftalmos/genética , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Microftalmía/genética , Factores de Transcripción Otx/genética , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Factores de Transcripción SOXB1/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Italia , Masculino , Persona de Mediana Edad , Mutación , Factor de Transcripción PAX6 , Adulto Joven
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