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1.
Actas Urol Esp (Engl Ed) ; 48(5): 392-397, 2024 Jun.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38367908

RESUMEN

INTRODUCTION AND OBJECTIVE: Among the many treatments for erectile dysfunction, implantation of a penile prosthesis has been associated with high patient satisfaction rates. However, patients with coexistent Peyronie's disease (PD) and refractory erectile dysfunction and/or severe deformities may show different results. The aim of our study was to assess and to compare the level of satisfaction, with an inflatable penile prosthesis (IPP), in men with/without coexistent PD. MATERIAL AND METHODS: A survey study based on a five-item satisfaction questionnaire was submitted to all those live patients implanted in the period 1992-2022 at our center (n=570) and their partners. Ninety-two percent of implants were inflatable devices. Surgeries were mainly performed by two surgeons. The main outcome measure used was the level of patient and partner satisfaction with sexual intercourse after IPP. RESULTS: Of the 570 eligible patients, 479 (84%) completed the survey (393 Non-PD: GROUP 1; 70 non-complex PD-Group 2; 16 complex PD). Eighty-six per cent of patients in Group 1 reported satisfactory sexual intercourse (very or moderately satisfied). Non-complex PD implanted patients (Group 2) reported a global 81% satisfactory sexual intercourse (very or moderately satisfied) (p>0.05). However, when we evaluated the PD subgroup of patients with severe PD who require incision/excision/grafting at the time of implant (Group 3: n=20), only 61% reported satisfactory sexual intercourse (p<0.01) with predominance of moderately satisfied patients over very satisfied: 78% vs. 22%). Additionally, 84% (Group 1), 80% (Group 2) and 54% (Group 3) of partners reported satisfactory intercourses, respectively (p<0.01). Overall, 84% of Group 1 implants and 79% of Group 2 reported that they would undergo the procedure again if the IPP failed (p>0.05; ns). Only 50% of Group 3 patients would do it again. With regard to cosmetic aspects, 48% of the Group 3 implant reported penile shortness or soft glans as the main causes of their dissatisfaction. Only 2.4% of total PP patients expressed difficulty in manipulating the device. CONCLUSION: The presence of PD alone may not impact PP patient and partner satisfaction, but patients with more severe baseline deformity who require incision/grafting may be less satisfied with outcomes including penile length and glans sensation.


Asunto(s)
Satisfacción del Paciente , Implantación de Pene , Induración Peniana , Prótesis de Pene , Humanos , Induración Peniana/cirugía , Masculino , Persona de Mediana Edad , Anciano , Parejas Sexuales , Estudios Retrospectivos , Adulto , Satisfacción Personal , Disfunción Eréctil/cirugía
2.
Actas urol. esp ; 44(5): 268-275, jun. 2020. tab, ilus
Artículo en Español | IBECS | ID: ibc-199013

RESUMEN

La fibrosis peneana por infección y/o explantes de prótesis peneanas previas condiciona situaciones de alta dificultad quirúrgica. El reimplante en estos casos debe seguir un esquema alternativo dirigido a minimizar las complicaciones peri y postoperatorias, así como conseguir la máxima eficacia del procedimiento y la mayor satisfacción postoperatoria del paciente y la pareja. En este artículo se revisan las principales alternativas quirúrgicas en estos casos


Penile fibrosis due to previous penile infection and/or prosthesis explants entails situations of high surgical complexity. In these cases, reimplantation should follow an alternative scheme, aimed at minimizing perioperative and postoperative complications, as well as achieving maximum efficiency of the procedure and greater postoperative satisfaction of the patient and his partner. This article reviews the main surgical alternatives for these cases


Asunto(s)
Humanos , Masculino , Remoción de Dispositivos/efectos adversos , Implantación de Pene/instrumentación , Implantación de Pene/métodos , Induración Peniana/etiología , Induración Peniana/cirugía , Diseño de Equipo
3.
Actas Urol Esp (Engl Ed) ; 44(5): 268-275, 2020 Jun.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32276860

RESUMEN

Penile fibrosis due to previous penile infection and/or prosthesis explants entails situations of high surgical complexity. In these cases, reimplantation should follow an alternative scheme, aimed at minimizing perioperative and postoperative complications, as well as achieving maximum efficiency of the procedure and greater postoperative satisfaction of the patient and his partner. This article reviews the main surgical alternatives for these cases.


Asunto(s)
Remoción de Dispositivos/efectos adversos , Infecciones/complicaciones , Implantación de Pene/instrumentación , Implantación de Pene/métodos , Induración Peniana/etiología , Induración Peniana/cirugía , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía , Diseño de Equipo , Humanos , Masculino
4.
Orphanet J Rare Dis ; 15(1): 16, 2020 01 15.
Artículo en Inglés | MEDLINE | ID: mdl-31941528

RESUMEN

The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patients and families requiring a solid organ or haematopoietic stem cell transplantation. The European Reference Network (ERN) TransplantChild is one of the 24 ERNs established in a European legal framework to improve the care of patients with rare diseases. ERN TransplantChild is the only ERN focused on both solid organ and haematopoietic stem cell paediatric transplantation, based on the understanding of paediatric transplantation as a complex and highly specialised process where specific complications appear regardless the organ involved, thus linking the skills and knowledge of different organ disciplines. Gathering European centres of expertise in paediatric transplantation will give access to a correct and timely diagnosis, share expertise and knowledge and collect a critical mass of patients and data that increases the speed and value of clinical research outcomes. Therefore, the ERN TransplantChild aims for a paediatric Pan-European, Pan-transplant approach.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas/métodos , Trasplante de Órganos/métodos , Europa (Continente) , Geografía , Humanos , Modelos Teóricos , Calidad de Vida , Procedimientos Quirúrgicos Operativos
5.
Eur J Intern Med ; 69: 77-85, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31521474

RESUMEN

BACKGROUND: To analyze the association between Scadding radiological stages of sarcoidosis at diagnosis and the disease phenotype (epidemiology, clinical presentation and extrathoracic involvement) in one of the largest cohorts of patients with sarcoidosis reported from southern Europe. METHODS: The SARCOGEAS-Study Group includes a multicenter database of consecutive patients diagnosed with sarcoidosis according to the WASOG 1999 criteria. Extrathoracic disease at diagnosis was defined according to the 2014 instrument and the clusters proposed by Schupp et al. RESULTS: We analyzed 1230 patients (712 female, mean age 47 yrs.) who showed the following Scadding radiologic stages at diagnosis: stage 0 (n = 98), stage I (n = 395), stage II (n = 500), stage III (n = 195) and stage IV (n = 42). Women were overrepresented in patients presenting with extrathoracic/extrapulmonary disease, while the diagnosis was made at younger ages in patients presenting with BHL, and at older ages in those presenting with pulmonary fibrosis (q values <0.05). Multivariable adjusted analysis showed that patients presenting with pulmonary involvement (especially those with stages II and III) had a lower frequency of concomitant systemic involvement in some specific extrathoracic clusters (cutaneous-adenopathic/musculoskeletal, ENT and neuro-ocular/OCCC) but a higher frequency for others (hepatosplenic), in comparison with patients with extrapulmonary involvement (stages 0 and I). The presence of either BHL or fibrotic lesions did not influence the systemic phenotype of patients with pulmonary involvement. CONCLUSIONS: The key determinant associated with a differentiated systemic phenotype of sarcoidosis at diagnosis was interstitial pulmonary involvement rather than the individual Scadding radiological stage.


Asunto(s)
Sarcoidosis/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Radiografía , Sarcoidosis/complicaciones , Sarcoidosis/genética
6.
Actas urol. esp ; 43(5): 228-233, jun. 2019. tab
Artículo en Español | IBECS | ID: ibc-181089

RESUMEN

Introducción: El objetivo es comparar el rendimiento de la secuencia resonancia magnética (RM) y biopsia transrectal «cognitiva» (BTRCog) frente a la biopsia transrectal clásica (BTRCl) en pacientes con al menos una biopsia de próstata (BP) negativa. Material y método: Análisis retrospectivo de 205 pacientes con al menos una BP negativa. A 144 (70,2%) pacientes se les realizó antes de la biopsia una RM y a 61 (29,8%) no. Los nódulos se clasificaron según la clasificación PI-RADS v2 agrupando pZa, pZpl y pZpm como zona periférica (ZP), Tza, Tzp y CZ como zona transicional (ZT) y áreas AS como zona anterior (ZA). A los pacientes con RM se les realizó BTRCog. A los pacientes sin RM se les realizó una BTRCl de la ZP y de la ZT. Comparación de variables cualitativas con test de la chi2 y de cuantitativas con t de Student. Análisis multivariante (regresión logística) para identificar variables predictoras. Resultados: La mediana de edad fue 68 (IQR 62-72%) años, de PSA 8,3 (IQR 6,2-11,7) ng/ml y del número de biopsias previas fue 1 (IQR 1-2). En 169 (82,4%) el tacto rectal (TR) fue normal, mientras que en 36 (17,6%) sospechoso (cT2a-b en 34 y cT2c en 2). La mediana del volumen prostático (VP) fue de 48 (IQR 38-65) cc. Existió diferencia en el PSAD (p = 0,03) entre ambos grupos. En la ETR se identificó nódulo hipoecoico en 8 (13,1%) pacientes con BTRCl y en 62(43,1%) (p = 0,0001) con BTRCog. La mediana de cilindros extraídos en BTRCl fue 10 (IQR 10-10) y en el grupo BTRCog fue 11 (IQR 9-13) (p = 0,75). Se diagnosticó cáncer en 74 (36,1%) pacientes. En BTRCl 10 (16,4%) y en BTRCog 64 (44,4%) (p = 0,0001). Los tumores diagnosticados fueron clasificados: ISUP-1: 34 (45,9%), ISUP-2: 21 (28,4%), ISUP-3: 9 (12,2%), ISUP-4: 7 (9,5%), ISUP-5: 3 (4,1%). No existieron diferencias (p = 0,89). La mediana de cilindros afectados en BTRCl fue 1 (IQR 1-5) frente a 2 (IQR 1-4) en el grupo BTRCog (p = 0,93). Variables predictoras independientes de cáncer: edad (OR = 12,05, p = 0,049). TR sospechoso (OR = 2,64, p = 0,04), nódulo hipoecoico en ecografía (OR = 2,20, p = 0,03) y la secuencia RM + BTRCog (OR = 3,49, p = 0,003). Conclusiones: La secuencia RMNmp + BTRCog en pacientes con al menos una BP previa negativa multiplica casi por 3,5 (OR = 3,49) la probabilidad de diagnosticar un cáncer frente a la BTRCl


Introduction: The aim of this study is to compare performance of two biopsy approaches in patients with at least one previous negative prostate biopsy (PB): classical transrectal biopsy (ClTB) versus cognitive registration biopsy (COG-TB). Material and methods: A retrospective study of 205 patients with at least one negative PB. 144 (70.2%) patients underwent a prior mpMRI and 61 (29.8%) patients did not. Nodule classification was carried out according PI-RADS version 2. Peripheral zone (PZ) grouped pZa, pZpl and pZpm areas, transition zone (TZ) Tza, Tzp and Cz areas, and anterior zone (AZ) AS areas. COG-TB was conducted in patients with previous mpMRI (144); while in the remaining 61 (29.8%) patients a ClTB of PZ and TZ was performed. Statistical analysis was performed using Chi square and T-student tests for qualitative and quantitative variables, respectively. Multivariate analysis was carried out in order to identify predictive variables of prostate cancer. Results: Median patient age was 68 (IQR 62-72) years, median PSA was 8.3 (IQR 6.2-11.7) ng/ml and median previous biopsies was 1 (IQR 1-2). Digital rectal examinations (DRE) findings were normal in 169 (82.4%) patients and suspicious in 36 (17.6%) patients (cT2a-b in 34 patients and cT2c in 2). Median prostate volume was 48 (IQR 38-65) cc. Statistically significant differences in PSAD between both groups were found (P = .03). Transrectal ultrasound (TRUS) showed hypoechoic nodules in 8 (13.1%) ClTB patients and in 62 (43.1%) COG-TB patients (P=.0001). The median number of biopsy cylinders per set of prostate biopsies was 10 (IQR 10-10) in ClTB group and 11 (IQR 9-13) in COG-TB group (P = .75). Cancer was diagnosed in 74 (36.1%) patients: of them, 10 (16.4%) were ClTB patients and 64 (44.4%) COG-TB (P = .0001). Tumors classification was as follow: ISUP-1: 34 (45.9%), ISUP-2: 21 (28.4%), ISUP-3: 9 (12.2%), ISUP-4: 7 (9.5%) and ISUP-5: 3 (4.1%). No significant statistical differences were found (P = .89). The median number of biopsy cylinders impaired per set of prostate biopsies was 1 (IQR 1-5) in ClTB group and 2 (IQR 1-4) in COG-TB group (P = .93). Regarding independent predictive variables for prostate cancer the results were: age (OR = 12.05; P = .049), suspicious DRE (OR = 2.64; P = .04), hypoechoic nodule (OR = 2.20; P = .03) and mpMRI + COG-TB sequence (OR = 3.49; P = .003). Conclusions: In patients with at least one negative PB, mpMRI + COG-TB sequence improves 3.5 (OR=3.49) times the diagnosis prostate vs. ClTB


Asunto(s)
Humanos , Masculino , Anciano , Persona de Mediana Edad , Biopsia/métodos , Biopsia Guiada por Imagen/métodos , Próstata/patología , Enfermedades de la Próstata/diagnóstico por imagen , Estudios Retrospectivos , Espectroscopía de Resonancia Magnética/métodos , Ultrasonido Enfocado Transrectal de Alta Intensidad/métodos , Neoplasias de la Próstata/diagnóstico por imagen
7.
Actas Urol Esp (Engl Ed) ; 43(5): 228-233, 2019 Jun.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30833102

RESUMEN

INTRODUCTION: The aim of this study is to compare performance of two biopsy approaches in patients with at least one previous negative prostate biopsy (PB): classical transrectal biopsy (ClTB) versus cognitive registration biopsy (COG-TB). MATERIAL AND METHODS: A retrospective study of 205 patients with at least one negative PB. 144 (70.2%) patients underwent a prior mpMRI and 61 (29.8%) patients did not. Nodule classification was carried out according PI-RADS version 2. Peripheral zone (PZ) grouped pZa, pZpl and pZpm areas, transition zone (TZ) Tza, Tzp and Cz areas, and anterior zone (AZ) AS areas. COG-TB was conducted in patients with previous mpMRI (144); while in the remaining 61 (29.8%) patients a ClTB of PZ and TZ was performed. Statistical analysis was performed using Chi square and T-student tests for qualitative and quantitative variables, respectively. Multivariate analysis was carried out in order to identify predictive variables of prostate cancer. RESULTS: Median patient age was 68 (IQR 62-72) years, median PSA was 8.3 (IQR 6.2-11.7) ng/ml and median previous biopsies was 1 (IQR 1-2). Digital rectal examinations (DRE) findings were normal in 169 (82.4%) patients and suspicious in 36 (17.6%) patients (cT2a-b in 34 patients and cT2c in 2). Median prostate volume was 48 (IQR 38-65) cc. Statistically significant differences in PSAD between both groups were found (P=.03). Transrectal ultrasound (TRUS) showed hypoechoic nodules in 8 (13.1%) ClTB patients and in 62 (43.1%) COG-TB patients (P=.0001). The median number of biopsy cylinders per set of prostate biopsies was 10 (IQR 10-10) in ClTB group and 11 (IQR 9-13) in COG-TB group (P=.75). Cancer was diagnosed in 74 (36.1%) patients: of them, 10 (16.4%) were ClTB patients and 64 (44.4%) COG-TB (P=.0001). Tumors classification was as follow: ISUP-1: 34 (45.9%), ISUP-2: 21 (28.4%), ISUP-3: 9 (12.2%), ISUP-4: 7 (9.5%) and ISUP-5: 3 (4.1%). No significant statistical differences were found (P=.89). The median number of biopsy cylinders impaired per set of prostate biopsies was 1 (IQR 1-5) in ClTB group and 2 (IQR 1-4) in COG-TB group (P=.93). Regarding independent predictive variables for prostate cancer the results were: age (OR=12.05; P=.049), suspicious DRE (OR=2.64; P=.04), hypoechoic nodule (OR=2.20; P=.03) and mpMRI +COG-TB sequence (OR=3.49; P=.003). CONCLUSIONS: In patients with at least one negative PB, mpMRI +COG-TB sequence improves 3.5 (OR=3.49) times the diagnosis prostate vs. ClTB.


Asunto(s)
Biopsia Guiada por Imagen/métodos , Imagen por Resonancia Magnética , Próstata/patología , Neoplasias de la Próstata/patología , Anciano , Biopsia/métodos , Distribución de Chi-Cuadrado , Tacto Rectal , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Próstata/diagnóstico por imagen , Neoplasias de la Próstata/diagnóstico por imagen , Estudios Retrospectivos , Ultrasonografía/métodos
8.
Actas urol. esp ; 43(1): 12-17, ene.-feb. 2019. tab
Artículo en Español | IBECS | ID: ibc-182180

RESUMEN

Introducción: Evaluación de la efectividad de la biopsia cognitiva (BC) en los pacientes con sospecha clínica de cáncer de próstata (caP) y al menos una biopsia negativa (BTR). Material y método: Análisis retrospectivo de 144 pacientes con al menos una BTR y una resonancia magnética nuclear (RMN) previa. Los nódulos de la RMN se clasificaron según la clasificación PI-RADS v2 agrupando pZa, pZpl y pZpm como zona periférica (ZP), Tza, Tzp y CZ como zona transicional (ZT) y áreas AS como zona anterior (ZA). Se indicó biopsia en nódulos ≥ PI-RADS 3. Se llevó a cabo análisis uni y multivariante (regresión logística) tratando de identificar variables relacionadas con tumor en biopsia de PI-RADS 3. Resultados: La mediana de edad fue de 67 (IQR: 62-72) años, la de PSA 8,2 (IQR: 6,2-12)ng/ml. Se identificó nódulo en la RMN en la ZP en 97 (67,4%) casos, en la ZT en 29 (20,1%) casos y en ZA en 41 (28,5%) casos. Se diagnosticó caP en la biopsia en 64 (44%) pacientes. En PI-RADS 3 se obtuvo un 17,5% (7/40) de cáncer, PI-RADS 4 un 47,3% (35/73) y en los PI-RADS 5 un 73,3% (22/29) (p = 0,0001). Análisis multivariable con variables que pudieran influir en el resultado de la biopsia en pacientes con PI-RADS 3: ninguno (edad, PSA, número de biopsias previas, tacto rectal, PSAD, volumen prostático ni número de cilindros extraídos) se comportó como factor predictor independiente de tumor. Conclusiones: El rendimiento diagnóstico de la BC en pacientes con al menos una biopsia previa negativa fue del 44% incrementándose según el grado de PI-RADS, siendo en PI-RADS 3 bajo. No se identificó ninguna variable clínica predictora de caP en pacientes con PI-RADS 3


Introduction: Evaluation of the effectiveness of cognitive biopsy (CB) in patients with clinical suspicion of prostate cancer (PC), and at least one negative biopsy (TRB). Material and method: Retrospective study of 144 patients with at least one previous TRB and magnetic resonance imaging (MRI). The MRI nodules were classified based on PI-RADS v2 grouping pZa, pZpl and pZpm as the peripheral zone(PZ), Tza, Tzp and CZ as the transitional zone (TZ), and the AS zones as the anterior zone (AZ). A biopsy was indicated for nodules ≥ PI-RADS 3. Uni and multivariate analysis was undertaken (logistic regression) to identify variables relating to a PI-RADS 3 tumour on biopsy. Results: The median age was 67 (IQR: 62-72) years, the median PSA was 8.2 (IQR: 6.2-12) ng/ml. A nodule was identified on MRI in the PZ in 97 (67.4%) cases, in the TZ in 29 (20.1%), and in the AZ in 41 (28.5%). PC was diagnosed on biopsy in 64 (44%) patients. The cancer rate in the PI-RADS 3 lesions was 17.5% (7/40), in the PI-RADS 4 47.3% (35/73), and in the PI-RADS 5 lesions it was 73.3% (22/29) (p = .0001). Multivariable analysis with variables that could influence the biopsy result in patients with PI-RADS 3: None (age, PSA, number of previous biopsies, rectal examination, PSAD, prostate volume or number of extracted cylinders) behaved as an independent tumour predictor. Conclusions: The diagnostic performance of CB in patients with at least one previous negative biopsy was 44%, increasing according to the PI-RADS grade, and low in PI-RADS 3. No clinical variable predictive of cancer was found in patients with PI-RADS 3


Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Anciano , Neoplasias de la Próstata/patología , Biopsia/métodos , Estudios Retrospectivos , Imagen por Resonancia Magnética , Efectividad , Estadificación de Neoplasias , Prostatectomía , Neoplasias de la Próstata/cirugía
9.
Actas Urol Esp (Engl Ed) ; 43(1): 12-17, 2019.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30131167

RESUMEN

INTRODUCTION: Evaluation of the effectiveness of cognitive biopsy (CB) in patients with clinical suspicion of prostate cancer (PC), and at least one negative biopsy (TRB). MATERIAL AND METHOD: Retrospective study of 144 patients with at least one previous TRB and magnetic resonance imaging (MRI). The MRI nodules were classified based on PI-RADS v2 grouping pZa, pZpl and pZpm as the peripheral zone(PZ), Tza, Tzp and CZ as the transitional zone (TZ), and the AS zones as the anterior zone (AZ). A biopsy was indicated for nodules ≥PI-RADS 3. Uni and multivariate analysis was undertaken (logistic regression) to identify variables relating to a PI-RADS 3 tumour on biopsy. RESULTS: The median age was 67 (IQR: 62-72) years, the median PSA was 8.2 (IQR: 6.2-12) ng/ml. A nodule was identified on MRI in the PZ in 97 (67.4%) cases, in the TZ in 29 (20.1%), and in the AZ in 41 (28.5%). PC was diagnosed on biopsy in 64 (44%) patients. The cancer rate in the PI-RADS 3 lesions was 17.5% (7/40), in the PI-RADS 4 47.3% (35/73), and in the PI-RADS 5 lesions it was 73.3% (22/29) (p=.0001). Multivariable analysis with variables that could influence the biopsy result in patients with PI-RADS 3: None (age, PSA, number of previous biopsies, rectal examination, PSAD, prostate volume or number of extracted cylinders) behaved as an independent tumour predictor. CONCLUSIONS: The diagnostic performance of CB in patients with at least one previous negative biopsy was 44%, increasing according to the PI-RADS grade, and low in PI-RADS 3. No clinical variable predictive of cancer was found in patients with PI-RADS 3.


Asunto(s)
Adenocarcinoma/patología , Biopsia con Aguja Gruesa/métodos , Biopsia Guiada por Imagen/métodos , Imagen por Resonancia Magnética/métodos , Neoplasias de la Próstata/patología , Adenocarcinoma/diagnóstico por imagen , Anciano , Reacciones Falso Negativas , Humanos , Masculino , Persona de Mediana Edad , Palpación , Próstata/ultraestructura , Neoplasias de la Próstata/diagnóstico por imagen , Estudios Retrospectivos
10.
Balkan J Med Genet ; 21(1): 87-91, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30425917

RESUMEN

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BB and SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.

11.
Ann Hematol ; 94(8): 1311-8, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25862235

RESUMEN

Fanconi anemia (FA) is a genomic instability syndrome associated with bone marrow failure, myelodysplastic syndrome (MDS), and/or acute myeloid leukemia (AML) requiring hematopoietic stem cell transplantation (HSCT) to restore normal hematopoiesis. Although low-intensity fludarabine-based preparative regimens without radiation confer excellent outcomes in FA HSCTs with HLA-matched sibling donors, outcomes for FA patients with alternative donors are less encouraging, albeit improving. We present our experience with 17 FA patients who completed mismatched related or unrelated donor HSCT using a non-radiation fludarabine-based preparative regimen at Charité University Medicine Berlin. All patients engrafted; however, one patient had unstable chimerism in the setting of multi-viral infections that necessitated a stem cell boost to revert to full donor chimerism. Forty-seven percent of patients developed grade I acute graft-verus-host disease (aGVHD). No grade II-IV aGVHD or chronic graft-versus-host disease of any severity occurred. At a median follow-up of 30 months, 88 % of patients are alive with normal hematopoiesis. Two patients died of infections 4 months post-transplantation. These results demonstrate that short-term outcomes for FA patients with mismatched and unrelated donor HSCTs can be excellent using chemotherapy only conditioning. Viral reactivation, however, was a major treatment-related complication.


Asunto(s)
Antineoplásicos/administración & dosificación , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/terapia , Trasplante de Células Madre Hematopoyéticas/métodos , Acondicionamiento Pretrasplante/métodos , Donante no Emparentado , Adolescente , Niño , Preescolar , Femenino , Enfermedad Injerto contra Huésped/diagnóstico , Enfermedad Injerto contra Huésped/prevención & control , Trasplante de Células Madre Hematopoyéticas/tendencias , Humanos , Masculino , Resultado del Tratamiento , Adulto Joven
12.
Arch. esp. urol. (Ed. impr.) ; 67(1): 5-11, ene.-feb. 2014. ilus, tab
Artículo en Español | IBECS | ID: ibc-129209

RESUMEN

En la presente revisión presentamos una actualización de la anatomía y vascularización de la uretra masculina. En realidad con esta revisión intentamos que los próximos capítulos del monográfico sean más accesibles a la compresión, tanto para conocer los mecanismos fisiopatológicos de la patología uretral como para ayudarnos al manejo quirúrgico de la misma


In this review we present an update on the anatomy and vascularization of the male urethra. The real objective of this review is to make the following chapters more understandable, both to know the physio-pathological mechanisms of urethral pathology and also to help us in their surgical management


Asunto(s)
Humanos , Masculino , Uretra/anatomía & histología , Uretra/irrigación sanguínea , Enfermedades Uretrales/fisiopatología
13.
Arch. esp. urol. (Ed. impr.) ; 64(6): 525-532, jul.-ago. 2011. tab, graf
Artículo en Español | IBECS | ID: ibc-92254

RESUMEN

OBJETIVO: Evaluar los factores predictores de recidiva del carcinoma epidermoide de pene clínicamente localizado tratado con cirugía.MÉTODOS: 49 pacientes fueron diagnosticados de cáncer de pene en nuestro servicio entre 1999 y 2009. Excluimos 18 pacientes: 9 por adenopatías palpables, 6 por histologías diferentes al epidermoide, 2 por pérdida del seguimiento y 1 por fallecimiento al diagnóstico.El diagnóstico se estableció mediante exploración y biopsia de la lesión. La lesión primaria fue tratada mediante circuncisión, cirugía parcial o penectomía total.Se definió como recidiva la afectación ganglionar o metastásica a partir del tercer mes tras la cirugía.Realizamos un análisis uni y multivariante mediante chi cuadrado y regresión logística para identificar los factores implicados en la recidiva.RESULTADOS: 31 pacientes fueron incluidos en el estudio. El seguimiento medio fue de 36 meses con una mediana de 29.El análisis histopatológico evidenció 55% pT1, 32% pT2 y 13% pT3. El grado histológico fue G1: 29%, G2: 32%, G3: 39%.Las tasas de recidiva y mortalidad fueron 38,7%, y 35,5% respectivamente.En el análisis univariante la localización de la lesión (p=0,004), el tipo de cirugía (p=0,008), el estadio (p=0,003) y el grado celular (p<0,001) se relacionaron de forma estadísticamente significativa con la recidiva.En el análisis multivariante solo el grado celular resultó estadísticamente significativo (p=0,01).CONCLUSIÓN: En nuestra serie, solo el grado histológico puede considerarse factor predictivo independiente de recidiva(AU)


OBJECTIVE: To evaluate the predictive factors for relapse in clinically localized squamous cell car-cinoma of the penis undergoing surgical treatment.METHODS: Forty-nine patients were diagnosed with cancer of the penis in our Service between 1999 and 2009. In the present study we excluded 18 subjects: 9 due to the presence of palpable adenopathies, 6 due to histological characteristics other than squamous cell carcinoma, two lost to follow-up, and one due to death at the time of diagnosis. Diagnosis was based on physical examination and biopsy findings. The primary lesion was treated by circumcision, partial surgery or total penectomy. Disease relapse was defined by lymph node or metastatic involvement after three months from surgery.Univariate and multivariate analysis were carried out using the chi-squared test and logistic regression to identify the factors involved in tumor relapse.RESULTS: Thirty-one patients were included in the study. Mean follow-up was 36 months (median 29). The histopathological study yielded the following profile: 55% pT1 cases, 32% pT2 cases and 13% pT3 tumors. Regarding histological grade, the distribution was G1: 29%, G2: 32%, G3: 39%. Recurrence and mortality rates were 38.7% and 35.5%, respectively.In the univariate analysis, location of the lesion (p=0.004), type of surgery (p=0.008), tumor stage (p=0.003) and cellular grade (p<0.001) were significantly correlated to disease relapse.In the multivariate analysis, only cellular grade proved statistically significant (p=0.01)(AU)


Asunto(s)
Humanos , Masculino , Recurrencia Local de Neoplasia/patología , Neoplasias del Pene/patología , Factores de Riesgo , Biomarcadores de Tumor/análisis , Carcinoma de Células Escamosas/patología
14.
Arch Esp Urol ; 64(6): 525-32, 2011 Jul.
Artículo en Inglés, Español | MEDLINE | ID: mdl-21791719

RESUMEN

OBJECTIVE: To evaluate the predictive factors for relapse in clinically localized squamous cell carcinoma of the penis undergoing surgical treatment. METHODS: Forty-nine patients were diagnosed with cancer of the penis in our Service between 1999 and 2009. In the present study we excluded 18 subjects: 9 due to the presence of palpable adenopathies, 6 due to histological characteristics other than squamous cell carcinoma, two lost to follow-up, and one due to death at the time of diagnosis. Diagnosis was based on physical examination and biopsy findings. The primary lesion was treated by circumcision, partial surgery or total penectomy. Disease relapse was defined by lymph node or metastatic involvement after three months from surgery. Univariate and multivariate analysis were carried out using the chi-squared test and logistic regression to identify the factors involved in tumor relapse. RESULTS: Thirty-one patients were included in the study. Mean follow-up was 36 months (median 29). The histopathological study yielded the following profile: 55% pT1 cases, 32% pT2 cases and 13% pT3 tumors. Regarding histological grade, the distribution was G1: 29%, G2: 32%, G3: 39%. Recurrence and mortality rates were 38.7% and 35.5%, respectively. In the univariate analysis, location of the lesion (p=0.004), type of surgery (p=0.008), tumor stage (p=0.003) and cellular grade (p<0.001)were significantly correlated to disease relapse. In the multivariate analysis, only cellular grade proved statistically significant (p=0.01). CONCLUSION: In our series, only histological grade could be regarded as an independent predictor of tumor relapse.


Asunto(s)
Carcinoma de Células Escamosas/patología , Neoplasias del Pene/patología , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/cirugía , Humanos , Estimación de Kaplan-Meier , Metástasis Linfática , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/epidemiología , Neoplasias del Pene/cirugía , Pene/patología , Valor Predictivo de las Pruebas , Análisis de Supervivencia
15.
Ecancermedicalscience ; 5: 210, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22276053

RESUMEN

Overcoming childhood cancers is critically dependent on the state of research. Understanding how, with whom and what the research community is doing with childhood cancers is essential for ensuring the evidence-based policies at national and European level to support children, their families and researchers. As part of the European Union funded EUROCANCERCOMS project to study and integrate cancer communications across Europe, we have carried out new research into the state of research in childhood cancers. We are very grateful for all the support we have received from colleagues in the European paediatric oncology community, and in particular from Edel Fitzgerald and Samira Essiaf from the SIOP Europe office. This report and the evidence-based policies that arise from it come at a important junction for Europe and its Member States. They provide a timely reminder that research into childhood cancers is critical and needs sustainable long-term support.

16.
Actas Urol Esp ; 31(6): 642-50, 2007 Jun.
Artículo en Español | MEDLINE | ID: mdl-17896561

RESUMEN

OBJECTIVE: To evaluate the current state of high intensity focused ultrasound as therapeutical option of prostatic carcinoma (PCa) METHODS: We completed an extense review of urologic literature on the role of HIFU on the treatment of PCa. RESULTS: This technique is nowadays usually being indicated in Europe as treatment of many cases of either primary or relapsed PCa after radiotherapy. Although some reports suggest that HIFU is very effective as treatment for low and medium risk localized PCa patients, no randomized series comparing this technique with conventional therapies have been presented yet. Great disparity in criteria to define free-disease survival is detected, which make difficult the interpretation of results. CONCLUSIONS: Experience of some groups in HIFU is highly promising. Local tumour destruction is evident both in primary and relapsed PCa cases. To make conclusions in the long-term, controlled-randomized trials must be designed, with follow-up to measure benefits in global survival and quality of live. Comparisons must be completed with conventional techniques, and a uniform definition of disease free-survival is necessary.


Asunto(s)
Adenocarcinoma/terapia , Neoplasias de la Próstata/terapia , Ultrasonido Enfocado Transrectal de Alta Intensidad , Adenocarcinoma/patología , Anciano , Animales , Biopsia con Aguja , Ensayos Clínicos como Asunto , Humanos , Masculino , Ratones , Persona de Mediana Edad , Estudios Multicéntricos como Asunto , Neoplasias Experimentales/terapia , Neoplasias de la Próstata/patología , Ratas , Terapia Recuperativa , Ultrasonido Enfocado Transrectal de Alta Intensidad/instrumentación , Ultrasonido Enfocado Transrectal de Alta Intensidad/métodos , Estudios de Validación como Asunto
17.
Actas urol. esp ; 31(6): 642-650, jun. 2007. ilus, tab
Artículo en Es | IBECS | ID: ibc-055620

RESUMEN

Objetivo. Evaluar el estado actual de la utilización del Ultrasonido de Alta Intensidad (HIFU) en el tratamiento del adenocarcinoma prostático (Cap). Método. Hemos llevado a cabo una revisión del papel actual del HIFU en el tratamiento del Cap. Resultados. La tecnología HIFU está actualmente siendo aplicada ya de forma habitual en Europa en el tratamiento del Cap. Las indicaciones principales en la actualidad son dos: la aplicación del HIFU como primer escalón terapéutico y como terapia de rescate en recidivas post-radioterapia. Los trabajos actuales están basados en equipos clínicos en desarrollo. Aunque las últimas publicaciones sugieren que HIFU es una forma de tratamiento útil para el Cap bien y moderadamente diferenciado, existe todavía falta de comparaciones de esta terapia menos invasiva con los tratamientos estándar. Seguimos detectando en los trabajos disparidad en la definición de supervivencia libre de enfermedad (SLE), lo que dificulta la interpretación de resultados y la extracción de conclusiones definitivas. Conclusiones. La experiencia de los grupos de trabajo especializados en HIFU es altamente prometedora. Entre los aspectos a destacar está su gran capacidad de destrucción tumoral local tanto en los casos primarios como en las recidivas post-radioterapia. Para extraer conclusiones a medio y largo plazo debemos generar ensayos clínicos randomizados y controlados con seguimiento suficiente para medir beneficios en términos de supervivencia global y calidad de vida (balance efectos adversos / beneficios), realizar comparaciones con las terapias estándar y homogeneizar los criterios de definición de la SLE


Objective. To evaluate the current state of high intensity focused ultrasound as therapeutical option of prostatic carcinoma (PCa) Methods. We completed an extense review of urologic literature on the role of HIFU on the treatment of PCa. Results. This technique is nowadays usually being indicated in Europe as treatment of many cases of either primary or relapsed PCa after radiotherapy. Although some reports suggest that HIFU is very effective as treatment for low and medium risk localized PCa patients, no randomized series comparing this technique with conventional therapies have been presented yet. Great disparity in criteria to define free-disease survival is detected, which make difficult the interpretation of results. Conclusions. Experience of some groups in HIFU is highly promising. Local tumour destruction is evident both in primary and relapsed PCa cases. To make conclusions in the long-term, controlled-randomized trials must be designed, with follow-up to measure benefits in global survival and quality of live. Comparisons must be completed with conventional techniques, and a uniform definition of disease free-survival is necessary


Asunto(s)
Masculino , Humanos , Hiperplasia Prostática , Ultrasonido Enfocado Transrectal de Alta Intensidad/métodos , Prostatectomía , Antígeno Prostático Específico/análisis , Modelos Animales de Enfermedad , Neoplasias de la Próstata/diagnóstico
19.
Actas Urol Esp ; 30(5): 474-8, 2006 May.
Artículo en Español | MEDLINE | ID: mdl-16884098

RESUMEN

Teaching operative skills are of paramount importance to urology training, specially in the period of time of the residency. Because of that, the introduction of laparoscopy in our surgical activity must be followed by a careful planning of progressive training as an answer to this new need that would be well designed trying not to damage in whatever possible way to the patients operated with this new modality of surgical intervention. In this sense, each case and each indication of laparoscopy must be clarified individually, taking into account the basic principles of medical ethics (beneficency, no maleficency, justice and autonomy). So, it will be neccesary to decide about possible risks due to the experience of the surgeon or due to the modality of surgery. In this article, different options of training plannings in laparoscopy are mentioned taking as a reference the experience in laparoscopic prostatectomy, reasons of "prepared reconversion" are exposed and, finally, the authors explain the discussion about the subject and the extent of information offered to the patients looking for the best possibilities of decision making by the patients.


Asunto(s)
Laparoscopía , Procedimientos Quirúrgicos Urológicos/educación , Procedimientos Quirúrgicos Urológicos/ética , Humanos , Procedimientos Quirúrgicos Urológicos/métodos
20.
Actas Urol Esp ; 30(2): 175-80, 2006 Feb.
Artículo en Español | MEDLINE | ID: mdl-16700208

RESUMEN

OBJECTIVE: We evaluated whether preoperative transrecta ultrasound (TRUS) mesaurements of the transition zone (TZ) and total prostate volumen predict real prostatic weight. MATERIAL AND METHODS: We compare estimated TRUS volumes with surgical specimen weight, in surgically treated patients with localized prostate cancer (group A, n = 33) or benign prostatic hyperplasia (group B, n = 37). The volume was calculated by the ellipsoid formula. Both measurements were compared with surgical specimen weight, assuming 1 as specific prostate weight. RESULTS: Group A: mean prostate measured volume was 38.6 cc. (SD 22.7), mean RP specimen weight was 54,2 g (SD 27.2) (p = 0.001). Total estimated prostate volume underestimated prostatectomy specimen weight by 29%. In order to adequate the estimated volume to the specimen weight, we calculated the formula: estimated prostate weight = 0.95 x prostatic measured volume + 17,657 (p = 0.005). Group B: mean TZ measured volume was 62.8 cc. (SD 23.3), mean adenomectomy specimen weight was 79.9 g (SD 45.9) (p = 0.001). TZ estimated volume underestimated adenomectomy specimen weight by 21%. In order to adequate the estimated volume to the specimen weight, we calculated the formula: estimated TZ weight = 1.67 x TZ measured volume - 24,768 (p = 0.04). CONCLUSIONS: We found significative differences between TRUS measured volumes and real weight of surgical specimen. These differences could be corrected by simple formulas that allow to minimize the observed underestimations.


Asunto(s)
Hiperplasia Prostática/diagnóstico por imagen , Hiperplasia Prostática/patología , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/patología , Anciano , Humanos , Masculino , Tamaño de los Órganos , Hiperplasia Prostática/cirugía , Neoplasias de la Próstata/cirugía , Recto , Estudios Retrospectivos , Ultrasonografía/métodos
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