La epigenética como herramienta diagnóstica y pronóstica en la estenosis pieloureteral / Epigenetics as a diagnostic and prognostic tool for pyeloureteral stenosis

Objetivo: En los últimos años, numerosos estudios se han centrado en la genética del sistema renal. Betchel et al. en 2010, demostraron como la metilación, fenómeno epigenético, estaría implicado en la perpetuación de la fibrosis. En nuestro estudio queremos demostrar si la epigenética tiene relación con la estenosis pieloureteral y en caso de ser así, si podría ser utilizada como material pronóstico y diagnóstico. Material y métodos: Se ha realizado un estudio descriptivo observacional o transversal en el que se analizó la metilación en el ADN extraído de las muestras de unión pieloureteral en pacientes pediátricos obtenidas durante la cirugía entre 1999 y 2015, resultando un total de 20 pacientes. Los datos clínicos-radiológicos se analizaron según correlación y agrupación de los mismos mediante un paquete software filogenético/estadístico denominado PHYLIP de acceso libre gratuito. Los genes seleccionados sobre los que se realizó la PCR específica de metilación (MSP) fueron: p16, RASSF1A, MGMT, Ciclina D-2, HIN-1, E-Cadherina y RASAL-1. Resultados: Los datos clínico-radiológicos analizados filogenéticamente mediante el programa PHYLIP establecieron 7 grupos de pacientes. Los resultados con respecto a la metilación mostraron una proporción considerable de metilación aberrante en la región del promotor de los genes p16 (25%), MGMT (15%), E-Cadherina (25%),HIN-1 (25%) y RASAL-1 (35%). Se analizó la asociación de los grupos clínico-radiológicos con los estados de metilación/no metilación de cada gen. Conclusiones: Se demuestra que la metilación sí tiene un papel en la fibrosis desarrollada en la estenosis pieloureteral destacando dos patrones clínicos de mal pronóstico asociados a dos clusters epigenéticos de metilación. RASAL-1, E-Cadherina, HIN-1 y p16 serían los candidatos para desarrollar estudios futuros sobre sus implicaciones pronósticas en la estenosis pieloureteral

Objective: In the last few years, numerous studies have focused on the genetics of the renal system. Betchel et al in 2010 demonstrated that methylation, as a epigenetic phenomenon, would be involved in the perpetuation of fibrosis. In our study, we want to demonstrate whether epigenetics is related to pyeloureteral stenosis and, if that is the case, if it could be used as prognostic and diagnostic biomarker. Methods: This is a descriptive observational and cross-sectional study that analyzed the methylation in DNA extracted from pyeloureteral junction samples obtained from surgery in pediatric patients in the period from 1999 to 2015, resulting in a total of 20 patients. Clinical data were analyzed using correlation tests and they were grouped with a free access software statistical phylogenetic package called PHYLIP. The selected genes for methylation-specific PCR (MSP) were the following: p16, RASSF1A, MGMT, Cyclin D-2, HIN-1, E-Cadherin and RASAL-1. Results: The clinical-radiological data analyzed phylogenetically by the PHYLIP program established 7 groups of patients. The results of methylation showed a considerable proportion of aberrant methylation in the promotor region of the genes p16 (25%), MGMT (15%), E-Cadherin (25%), HIN-1 (25%) and RASAL-1 (35%). The association of the clinical-radiological groups with methylation/non-methylation states of each gene was also analyzed. Conclusions: This study demonstrates that methylation does have a role in fibrosis developed in pyeloureteral stenosis. Two clinical patterns of poor prognosis associated with two epigenetic methylation cluster. RASAL-1, E-Cadherin, HIN-1 and p16 would be candidates for future studies on their prognostic implications in pyeloureteral stenosis

[Epigenetics as a diagnostic and prognostic tool for pyeloureteral stenosis.] / La epigenética como herramienta diagnóstica y pronóstica en la estenosis pieloureteral.

OBJECTIVE: In the last few years, numerous studies have focused on the genetics of the renal system. Betchel et al in 2010 demonstrated that methylation, as a epigenetic phenomenon, would be involved in the perpetuation of fibrosis. In our study, we want to demonstrate whether epigenetics is related to pyeloureteral stenosis and, if that is the case, if it could be used as prognostic and diagnostic biomarker. METHODS: This is a descriptive observational and cross-sectional study that analyzed the methylation in DNA extracted from pyeloureteral junction samples obtained from surgery in pediatric patients in the period from 1999 to 2015, resulting in a total of 20 patients. Clinical data were analyzed using correlation tests and they were grouped with a free access software statistical phylogenetic package called PHYLIP. The selected genes for methylation-specific PCR (MSP) were the following: p16, RASSF1A, MGMT, Cyclin D-2, HIN-1, E-Cadherin and RASAL-1. RESULTS: The clinical-radiological data analyzed phylogenetically by the PHYLIP program established 7 groups of patients. The results of methylation showed a considerable proportion of aberrant methylation in the promotor region of the genes p16 (25%), MGMT (15%), E-Cadherin (25%), HIN-1 (25%) and RASAL-1 (35%). The association of the clinical-radiological groups with methylation/non-methylation states of each gene was also analyzed. CONCLUSIONS: This study demonstrates that methylation does have a role in fibrosis developed in pyeloureteral stenosis. Two clinical patterns of poor prognosis associated with two epigenetic methylation cluster. RASAL- 1, E-Cadherin, HIN-1 and p16 would be candidates for future studies on their prognostic implications in pyeloureteral stenosis.

OBJETIVO: En los últimos años, numerosos estudios se han centrado en la genética del sistema renal. Betchel et al. en 2010, demostraron como la metilación, fenómeno epigenético, estaría implicado en la perpetuación de la fibrosis. En nuestro estudio queremos demostrar si la epigenética tiene relación con la estenosis pieloureteral y en caso de ser así, si podría ser utilizada como material pronóstico y diagnóstico. MATERIAL Y MÉTODOS: Se ha realizado un estudio descriptivo observacional o transversal en el que se analizó la metilación en el ADN extraído de las muestras de unión pieloureteral en pacientes pediátricos obtenidas durante la cirugía entre 1999 y 2015, resultando un total de 20 pacientes. Los datos clínicos-radiológicos se analizaron según correlación y agrupación de los mismos mediante un paquete software filogenético/estadístico denominado PHYLIP de acceso libre gratuito. Los genes seleccionados sobre los que se realizó la PCR específica de metilación (MSP) fueron: p16, RASSF1A, MGMT, Ciclina D-2, HIN-1, E-Cadherina y RASAL-1. RESULTADOS: Los datos clínico-radiológicos analizados filogenéticamente mediante el programa PHYLIP establecieron 7 grupos de pacientes. Los resultados con respecto a la metilación mostraron una proporción considerable de metilación aberrante en la región del promotor de los genes p16 (25%), MGMT (15%), E-Cadherina (25%),HIN-1 (25%) y RASAL-1 (35%). Se analizó la asociación de los grupos clínico-radiológicos con los estados de metilación/no metilación de cada gen. CONCLUSIONES: Se demuestra que la metilación sí tiene un papel en la fibrosis desarrollada en la estenosis pieloureteral destacando dos patrones clínicos de mal pronóstico asociados a dos clusters epigenéticos de metilación. RASAL-1, E-Cadherina, HIN-1 y p16 serían los candidatos para desarrollar estudios futuros sobre sus implicaciones pronósticas en la estenosis pieloureteral.

Perineal groove in female infants: A case series and literature review.

BACKGROUND: Perineal groove is a rare congenital malformation that is unknown to many clinicians and is often misdiagnosed. Although it may be self-resolving during childhood, this nonepithelized mucous membrane can pose the risk of local irritation and infection, particularly urinary tract infection. METHODS: A retrospective study of female infants diagnosed with a perineal groove was performed, demographic characteristics and clinical features were analyzed, and a photographic review was conducted. RESULTS: Five patients with perineal groove were observed in our clinic in 2015-16. The mean age was 14 months. None had symptoms, and no treatment was required. During follow-up of 1 year, all remained asymptomatic. CONCLUSIONS: Our retrospective review suggests that perineal groove may be an underdiagnosed condition. Most cases resolve spontaneously, but confusion in diagnosis may lead to misdiagnosis or misinterpretation of sexual abuse and unnecessary treatments.

A simple dressing for hypospadias surgery in children.

One of the most controversial aspects of hypospadias surgery is the election of an appropriate wound dressing. In fact, there may be as many different types of dressing as there are types of surgical repair. Here, we describe a new, simple method for hypospadias dressing in children that minimizes painful removal.

Prolapsed cecoureterocele presented as a prenatal genital mass: A urological challenge.

Prolapse of a cecoureterocele through the urethra presenting as a prenatal vulval mass is an extremely uncommon entity. We present a case of a newborn girl with a cecoureterocele extending through the urethra (diagnosed at 29 weeks' gestation) and we present its postnatal findings and outcomes.

Isolated pediatric duodenal rupture after horse hoof kick / Rotura duodenal aislada en un niño tras una coz de un caballo

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Congenital absence of preputial foreskin: an extremely uncommon anomaly.

The part of the penile skin that covers the glans penis is named prepuce or foreskin. The embryologic development of the prepuce and urethra is related. Several congenital anomalies of the prepuce have been previously reported, but the absence of the prepuce with a normal development of the urethra is a very rare association. We report a sporadic case with absence of the prepuce and normal urethral development.

Giant presacral tailgut cyst mimicking rectal duplication in a girl: report of a pediatric case.

Tailgut cyst, or retrorectal cystic hamartoma, is a rare congenital lesion found in the presacral space. The lession has been infrequently reported in medical literature. It is most common in middle-aged women and is rare in children. We report a case of a tailgut cyst mimicking a rectal duplication in an 8-year-old child. Excision and histological examination of the mass confirmed the tailgut cyst.

Midline congenital cervical cleft mimicking linear scleroderma.

Midline congenital cervical cleft is an extremely uncommon anomaly of the neck. Fewer than 100 cases have been reported. It is usually described as a cervical scar-like skin defect. We present a case of midline cervical cleft mimicking linear morphea and treated with topical steroids for 2 years. This is an unusual presentation of this entity that must be treated with surgical excision to confirm the diagnosis histopathologically.

Incomplete unilateral polyorchidism (bilobed testicle) mimicking testicular tumour.

Incomplete polyorchidism (also called bilobed testicle) is an extremely uncommon congenital anomaly. Only 3 cases of bilobed testicle were previously reported in the available literature. We describe a case of a 4-year-old boy who presented with a 6-month history of an asymptomatic scrotal mass located in the upper pole of the left testicle mimicking testicular tumour. After partial orchiectomy, macroscopic and pathological examination of the lesion confirmed the diagnosis of normal testicular tissue.

Bipolar electrothermal vessel sealing system and 5-mm 2 expandable trocar approach in pediatric laparoscopic varicocelectomy: a successful time-effective technical refinement.

BACKGROUND: To present our initial experience with electrothermal bipolar vessel device and only 2 expandable ports for laparoscopic Palomo varicocele procedure in pediatric and adolescent population. METHODS: In a 3-year period between 2006 and 2009, sixty-three boys and adolescents diagnosed in our institution as having varicocele underwent Palomo laparoscopic surgery with a two 5-mm expandable-trocar laparoscopic approach using the LigaSure technology (Valleylab Inc., Covidien, Boulder, CO) for spermatic vessels sealing. The outcome variables recorded for analysis were age at presentation, symptoms, varicocele grade based on Dubin and Amelar Classification, testicular atrophy, operative time, complications, recurrence, and reactive hydrocele formation. Mean follow-up was 1.8 years (range, 6 mo to 3 y). RESULTS: Children's age at diagnosis ranged between 9 and 19 years. Mean age at operation was 14.8 ± 1.2 years. All cases were left side varicoceles and 70% had grade III varicocele. Testicular atrophy was noticed in 39.8% of cases. All boys underwent Palomo laparoscopic sealing of the spermatic vessels using bipolar vascular electrothermal device Ligasure with a 2-trocar approach. Mean operative surgery time was 21 minutes. Median hospital stay was 21 ± 8 hours. No conversion cases were registered. Nine patients developed hydrocele after laparoscopic procedure (14.2%). Three patients of these cases underwent Winkelman-Lord's hydrocelectomy (4.7% of total). CONCLUSIONS: Laparoscopic Palomo varicocele surgery for pediatric patients using Ligasure as spermatic vessels sealant and only 2 radially expandable 5-mm trocars is a safe, feasible, and time-effective technical improvement.

Reactive hydrocele after laparoscopic Palomo varicocele ligation in pediatrics.

OBJECTIVES: To evaluate the incidence of hydrocele following laparoscopic Palomo varicocele ligation in pediatric and adolescents in our institution. METHODS: Between 1997 and 2009, 180 boys diagnosed as having varicocele who underwent Palomo laparoscopic ligation were evaluated retrospectively. Outcome variables recorded for analysis were age at presentation, symptoms, varicocele grade (Dubin-Amelar classification), testicular atrophy, length of hospital stay, perioperative complications, recurrence and hydrocele formation after surgery. Mean follow up was 5.8 years (6 months- 9 years). RESULTS: Age at diagnosis ranged between 9 and 19 years. Mean age at operation was 14.1 ± 1.8 years. There were 177 left-side varicoceles (98%) and four cases were bilateral. Testicular atrophy was noted in 45. Mean operative time was 38 min. The last 63 surgeries were performed on a two-trocar basis with Ligasure vascular sealing device and operative time decreased significantly to 22 min. Median hospital stay was 31h. Twenty-three patients developed hydrocele (13%); 11 of these underwent Winkelman-Lord's hydrocelectomy at least 1 year after Palomo (9% of total). Of the remaining 12, two resolved spontaneously and 10 were stable at mean 4-year follow up. CONCLUSIONS: Laparoscopic Palomo procedure is a safe successful method to correct varicoceles in pediatric and adolescent males. Reactive hydrocele formation following laparoscopic varicocelectomy is a worrisome problem particularly in cases with longer follow-up.

Hidrocele relativo tras Palomo laparóscopico en el varicocele pediátrico / Reactive hydrocele after laparoscopic Palomo varicocele ligation in pediatrics

OBJETIVO: Evaluar la incidencia de hidrocele reactivo tras la técnica de Palomo laparoscópico en pacientes menores de 19 años en nuestro centro.MÉTODOS: Entre los años 1997 y 2009, 180 varones menores de 19 años diagnosticados de varicocele fueron incluidos en el estudio. Las variables registradas fueron edad, sintomatología, grado de Varicocele según la clasificación de Dubin-Amelar, tamaño testicular, estancia hospitalaria, complicaciones, recurrencia y formación de hidrocele tras la intervención .El seguimiento medio fue de 5 años (6 meses a 9 años).RESULTADOS: La edad al diagnóstico fue de 9 a 19 años. 177 fueron varicoceles izquierdos (98%) y 4 casos fueron bilaterales. Todos tenían varicocele grados II o III y atrofia testicular un 45%; El 8.1% referían dolor testicular. Todos los pacientes se operaron mediante un procedimiento de Palomo laparoscópico. El tiempo medio de duración de la intervención fue de 38 minutos. Las últimas 63 cirugías se realizaron solo con 2 trocares y Ligasure para sellar los vasos, logrando disminuir el tiempo quirúrgico a 22 minutos. La estancia hospitalaria media fue de 31 h. 23 pacientes desarrollaron hidrocele reactivo (13%); 11 de los cuales precisaron una hidrocelectomía (procedimiento de Winkelman-Lord) como mínimo un año después de la primera intervención laparoscópica. De los restantes, en 2 casos se resolvió espontáneamente y 10 casos permanecen estables con un hidrocele leve tras 4 años de seguimiento.CONCLUSIONES: Según nuestro estudio, la corrección laparoscópica del varicocele es una técnica segura, eficaz e idónea para su empleo en pacientes pediátricos y adolescentes. La complicación más indeseable y frecuente es el hidrocele reactivo, que a veces puede aparecer mas de un año después de la intervención. Debido a este hecho, la incidencia de hidrocele descrita en los estudios puede ser inferior a la real(AU)

OBJECTIVES: To evaluate the incidence of hydrocele following laparoscopic Palomo varicocele ligation in pediatric and adolescents in our institution.METHODS: Between 1997 and 2009, 180 boys diagnosed as having varicocele who underwent Palo-mo laparoscopic ligation were evaluated retrospectively. Outcome variables recorded for analysis were age at presentation, symptoms, varicocele grade (Dubin-Amelar classification), testicular atrophy, length of hospital stay, perioperative complications, recurrence and hydrocele formation after surgery. Mean follow up was 5.8 years (6 months- 9 years).RESULTS: Age at diagnosis ranged between 9 and 19 years. Mean age at operation was 14.1 ± 1.8 years. There were 177 left-side varicoceles (98%) and four ca-ses were bilateral. Testicular atrophy was noted in 45. Mean operative time was 38 min. The last 63 surge-ries were performed on a two-trocar basis with Ligasure vascular sealing device and operative time decreased significantly to 22 min. Median hospital stay was 31h. Twenty-three patients developed hydrocele (13%); 11 of these underwent Winkelman-Lord’s hydrocelectomy at least 1 year after Palomo (9% of total). Of the remaining 12, two resolved spontaneously and 10 were stable at mean 4-year follow up.CONCLUSIONS: Laparoscopic Palomo procedure is a safe successful method to correct varicoceles in pedia-tric and adolescent males. Reactive hydrocele formation following laparoscopic varicocelectomy is a worrisome problem particularly in cases with longer follow-up(AU)

Protective effect of new nitrosothiols on the early inflammatory response to kidney ischemia/reperfusion and transplantation in rats.

Renal ischemia/reperfusion (I/R) is characterized by severe inflammatory damage. We assessed the effect of administrating recently developed nitrosothiol compounds acting as nitric oxide (NO) donors on the production of cytokines and other markers of acute inflammatory reaction in an experimental model of warm (I/R), and in a model of cold ischemia and transplant in rats. Warm ischemia was achieved by ligation of left renal pedicle for 60 min, followed by contralateral nephrectomy. NO-donors LA-803, LA-807, LA-810 were administered i.v. (1.8 micromol/kg) during 30 min before reperfusion. Cold ischemia was achieved by preservating the kidney for 24 h in Euro Collins and grafting it in consanguineous Fisher 344/Ico rats. LA-803 was administered in the preservation fluid and in the recipient rat. Reperfusion time was 4 h in warm ischemia and 3 h in cold ischemia + transplantation. Administration of LA-803, LA-807 and, in a lower proportion, LA-810 prevented from the enhanced production of tumor necrosis factor (TNF), interferon-gamma (IFN-gamma), and interleukin-1beta (IL-1beta), the decrease in interleukin-6 (IL-6) and interleukin-10 (IL-10), the increase in tissue level of superoxide anion (SOA) and superoxide dismutase (SOD), and the increase in neutrophil infiltration induced by warm I/R. Treatment with LA-803 in animals with renal transplantation after cold ischemia was also associated with reduced plasma levels of TNF, IFN-gamma, and IL-1beta, increased plasma levels of IL-6 and IL-10, reduced renal levels of SOA and SOD, and reduced neutrophil infiltration. These data demonstrate that systemic administration of new NO-donors with nitrosothiol structure diminished inflammatory responses in a kidney subjected to warm I/R or cold ischemia and transplantation.