Macrozoospermia associated with mutations of AURKC gene: First case report in Latin America and literature review.

A Chilean 35-year-old male patient with a history of primary infertility made an appointment at the Unit of Reproductive Medicine at Clínica Las Condes, Santiago, Chile. Multiple semen analyses revealed abnormal sperm morphology as the most prevalent finding. Multiflagellated and macrocephalic spermatozoa were observed and indicated a possible macrozoospermic phenotype. The constant presence of abnormal sperm morphology led the scope of the study to include Aurora Kinase C (AURKC) gene sequencing. The patient was diagnosed with a homozygous mutation of this gene. The mutation was detected in exon 6, type c.744C>G+/+ (P.Y248*) variant. As previously described in the Human Gene Mutation Database (HGMD), this pathogenic variant is associated with macrozoospermia. Although this mutation is not the most frequently observed, it is the first of its kind reported in Latin America.

Efectividad y satisfacción del tratamiento con dosis diaria de Tadalafilo 5 mg para la disfunción eréctil / Effectiveness and satisfaction of the treatment with daily dose of Tadalafil 5 mg for erectile dysfunction

La base del tratamiento de la disfunción eréctil (DE) son los inhibidores de la fosfodiesterasa 5, disponibles mayoritariamente para dosificación a demanda. En 2008 la FDA aprobó el Tadalafilo 5 mg de uso diario. OBJETIVO: Evaluar la efectividad del Tadalafilo 5 mg de uso diario para el tratamiento de la DE y la satisfacción de los pacientes frente a su uso. PACIENTES Y METODOS: Se reclutaron pacientes con DE entre Junio de 2011 y Mayo de 2012. Se registraron datos sociodemográficos, clínicos y andrológicos. La DE se clasificó según el puntaje del cuestionario IIEF. Todos los pacientes iniciaron tratamiento diario con Tadalafilo 5 mg y fueron reevaluados luego de un mes. La satisfacción y calidad de vida se evaluó con cuestionarios validados (EDITS, SEAR y GAQ). Para el análisis estadístico se consideró significativo un P<0.05.RESULTADOS: Se reclutaron 49 pacientes con edad promedio de 59,9 +/- 8,8 años. Un 14,3 por ciento presentaba DE severa, 36,7 por ciento moderada, 36,7por ciento leve-moderada y 12,2 por ciento leve. Al mes de tratamiento, el puntaje IIEF aumentó significativamente (P<0.0005), encontrándose un 18,4 por ciento sin DE, 53,1 por ciento con DE leve, 28,6 por ciento con DE leve-moderada y ninguno con DE moderada o grave. El 87,7 por ciento de los pacientes refirió mejores erecciones y el 81,6 por ciento una mejor capacidad para mantener la relación sexual. La satisfacción global con el tratamiento fue de 64,1 por ciento. CONCLUSIÓN: El tratamiento diario con Tadalafilo 5 mg es efectivo para el manejo de la DE y se asocia a niveles adecuados de satisfacción y confianza al cabo de un mes de tratamiento.

The base of the treatment of erectile dysfunction (ED) are the phosphodiesterase-5 inhibitors, mostly available for “on demand” dosing. In 2008, the FDA approved Tadalafil 5mg for daily use. OBJECTIVE: To evaluate the effectiveness of Tadalafil 5 mg daily dose for the treatment of ED and the patient’s satisfaction with its use. PATIENTS AND METHODS: Patients with ED were enrolled between June 2011 and May 2012. Sociodemographic, clinical and andrologic data was recorded. The severity of ED was classified according to the score of the IIEF questionnaire. All patients started daily treatment with Tadalafil 5 mg and were reevaluated after one month. Satisfaction and quality of life was assessed using validated questionnaires (EDITS, SEAR and GAQ). A P<0.05 was considered significant in all statistical analysis. RESULTS: A total of 49 patients were enrolled, with mean age of 59.9 +/- 8.8 years. A 14.3 ´percent suffered severe ED, 36.7 percent moderate, 36.7 percent mild-moderate and 12.2 percent mild. After one month, the IIEF score significantly increased (P<0.0005), finding a 18.4 percent of patients without ED, 53.1 percent with mild ED, 28.6 percent with mild-moderate ED and no cases with moderate or severe ED. 87.7 percent of patients reported better erections and 81.6 percent stated a better capacity to maintain erections during. The global satisfaction rate with the treatment was of 64.1 percent. CONCLUSION: The treatment with daily dose of Tadalafil 5 mg is effective for the management of ED and is associated with adequate levels of satisfaction and confidence after one month of use.

Comparación entre los efectos de la varicocelectomía microquirúrgica subinguinal bilateral vs la unilateral en los parámetros seminales / Comparison of the effects of unilateral vs bilateral microsurgical subinguinal varicocelectomy in seminal parameters

INTRODUCCIÓN: El varicocele es una causa frecuente de infertilidad en el hombre, encontrándose en el 40 por ciento de los hombres que consultan por infertilidad, existiendo diversas teorías que explican esta situación. Numerosos estudios apuntan a que la reparación del varicocele se asociaría a una mejoría en los parámetros seminales e incluso en las tasas de fertilidad. Entre las técnicas reparativas la varicocelectomía microquirúrgica (VM) se ha posicionado como la técnica gold standard dado sus mejores resultados en cuanto a éxito, recidiva y seguridad. OBJETIVO: evaluar el rol de la VM en los parámetros seminales de varones que consultan por infertilidad y que son sometidos a VM bilateral en comparación con aquellos en que se realiza VM unilateral. Materiales y método: se seleccionó a pacientes con varicocele clínico que consultaron por infertilidad y que tenían el espermiograma alterado, a los que se realizó VM uni o bilateral según tuvieran la enfermedad en uno o ambos lados. Se tomó el promedio de los parámetros seminales de 2 espermiogramas pre-operatorios y otras variables clínicas y demográficas y se comparó con los parámetros seminales a 6 meses post-cirugía. Además se comparó los resultados del grupo de VM bilateral con el unilateral. RESULTADOS: no hubo diferencias entre los grupos en el pre-operatorio, evidenciándose una mejoría en ambos grupos al analizar los resultados a los 6 meses post-VM. Esta mejoría fue significativamente mayor en el grupo de VM unilateral en cuanto a la concentración espermática (mediana de 6 mill/ml, comparado con 0.75 mill/ml en el grupo de pacientes sometidos a VM bilateral. p Value = 0.02)...

Introduction: Varicocele is a common cause of infertility in men, present in 40 percent of men with infertility, there are several theories that explain this situation. Numerous studies suggest that varicocele repair would be associated with an improvement in semen parameters and even fertility rates. Among the reparative techniques microsurgical varicocelectomy (VM) has positioned itself as the gold standard technique given the best results in terms of success, recurrence and security. Objective: To evaluate the role of the VM in semen parameters of men consulting for infertility and who undergo bilateral VM compared to those VM is performed unilaterally. Materials and Methods: We enrolled patients with clinical varicocele who consulted for infertility and had altered semen analysis, in which VM was performed unilateral or bilateral depending if they had the disease in one or both sides. The average of 2 pre-operative semen parameters was used and other clinical and demographic variables and they were compared with semen parameters at 6 months post-surgery. We also compared the results of the group with unilateral versus that with bilateral VM. Results: There were no differences between groups in the pre-operative, evidence-dose improvement in both groups in analyzing the results at 6 months post-VM. This improvement was significantly greater in the group of unilateral VM regarding sperm concentration (median of 6 mill / ml, compared with 0.75 million / ml in the group of patients undergoing bilateral VM. P Value = 0.02).Discussion: VM improves seminal parameters in patients with unilateral or bilateral varicocele, being unilateral VM group that benefits the most. This could be explained by a greater cumulative damage spermatogenesis in the case of bilateral varicocele. Randomized controlled prospective studies are needed, allowing to determine the real effect of unilateral vs. bilateral VM.

Vasovasostomía microquirúrgica posvasectomía: una técnica efectiva y segura / Microsurgical postvasectomy vaso-vasostomy: an effective and safe technique

Introducción: La vasectomía es un procedimiento quirúrgico electivo que pretende obstruir o eliminar un segmento de ambos vasos deferentes. Es actualmente la causa más frecuente de azoospermia obstructiva. Se estima que hasta el 6 por ciento de los hombres que se han sometido a ella desean que sea revertida1. El objetivo del estudio fue presentar una serie de vasovasostomías (VV), y demostrar que constituye una técnica microquirúgica efectiva y segura. Material y métodos: Se han revisado 18 casos de VV practicadas en pacientes con vasectomía previa. Todas estas cirugías fueron realizadas por el mismo cirujano en un periodo de un año. Se registraron datos clínicos preoperatorios relevantes, así como datos del intra y posoperatorio. Se evaluaron los desenlaces con parámetros estándar y validados para esos efectos. Resultados: El seguimiento medio fue de 12 meses (rango 8-17). La edad media de los pacientes fue de 44,5 años (37-56); la edad media de la pareja fue de 30 años (24-43); el tiempo desde la vasectomía8 años (2-21) y la media de hijos previos fue del 2,1 (1-4). En el primer control de espermiograma alos 3 meses de la intervención, 16 de los 17 pacientes presentaron espermios en el recuento (94 por ciento).La concentración media de espermatozoides fue de 25x10

Introduction: Vasectomy is an elective surgical procedure, which aims to obstruct or to eliminate a segment of both vas deferens. It is currently considered the most frequent cause of obstructive azoospermia. It is estimated that up to 6 percent of male who have undergone one, is seeking to have it reversed (1). The target of this study is to present a series of vasovasostomy (VV), and to prove it as an effective and secure microsurgical technique. Material and methods: 18 VV cases of patients with a previous vasectomy have been revised. The same surgeon practiced all surgeries during one year. Relevant clinic data, pre-operatory as well as intra and post operatory, were registered. The outcomes were assessed with standard and validated parameters. Results: The average follow up was 12 months (range 8-17). The patients’ average age was 44,5years (37-56); their partners’ average age was 30 years (24-43); time since vasectomy was 8 years (2-21) and the mean of previous children was 2,1 (1-4). 16 out of 17 patients (94 percent) had sperm in the ejaculate at 3 months following the procedure with a mean sperm concentration of 25x10

[Metabolic study results of 54 patients with high risk of recurrent urolitiasis]. / Resultados del estudio metabólico en 54 pacientes con urolitiasis de alto riesgo de recurrencia.

INTRODUCTION: Urolithiasis is a metabolic disorder with a tendency to relapse. The aim of this study was to assess the prevalence of metabolic abnormalities in patients at high risk and the impact of sex and age. MATERIALS AND METHODS: Descriptive study of 54 patients (37 men and 17 women), with lithiasic pathology at high risk of recurrence. The metabolic study included the measurement of calcemia, uricemia, fosfemia, parathormone, calciuria/24 h, uricosuria/24 h, fosfaturia/24 h, oxalaturia/24 h, citraturia/24 h and creatinine/24 h. The values obtained were corrected according to weight and creatinine. The test used for statistical analysis was t-student (STATA 7.0). It was considered significant p<0.05. RESULTS: In 64,8% (35/54) of the cases a metabolic abnormality was observed and in 27,7% (15/54) there was 2 or more alterations present. The metabolic disorders most frequently observed were hypercalciuria (15/54) 27,7%, hypocitraturia (15/54) 27,7%, hyperuricemia (8/54) 14,8%. and hyperoxaluria (8/54) 14,8%. There was no significant difference in age or sex between the groups with and without metabolic abnormality. CONCLUSIONS: Most patients with recurrent lithiasic pathology or at high-risk display one or more metabolic disorders, being hypercalciuria and hypocitraturia the most frecuently encountered. In this study, there was no difference between sexes in most of the metabolic disorders, nor in its age distribution. These results demonstrate the need for metabolic studies in high-risk patients, since there are tools that allow therapeutic medical management of metabolic disorders and thus reduce the recurrence of lithiasis.

[Reduced retroperitoneal lymphadenectomy for clinical stage I non seminomatous germ cell testicular cancer]. / Linfadenectomia retroperitoneal reducida en cancer testicular de celulas germinales no seminomatoso estadio clinico I.

OBJECTIVES: The best treatment of clinical stage I non-seminomatous germ cell testicular cancer (NSGCTC) is controversial. Lymphadenectomy allows an adequate retroperitoneal staging and cures up to 70% of patients in pathological stage II. The objective of this study is to analyse our experience in the treatment of this patients with radical orchiectomy and reduced retroperitoneal lymphadenectomy (RRL) as the initial treatment. METHODS: Retrospective study of patients with clinical stage I NSGCTC submitted to radical orchiectomy and RRL at the Urology Service of the University of Chile Clinical Hospital, from January 1990 to December 2000. INCLUSION CRITERIA: retroperitoneal staging with computed tomography (CT), normal tumor markers after orchiectomy and testicular and retroperitoneal biopsy informed at our hospital. The following metastatic risk factors in the testicular biopsy were checked: vascular invasion (venous and/or lymphatic), infiltration of tunica albuginea, rete testis, epididymis, and spermatic cord. RESULTS: 36 patients with 37 testicular tumors were analysed (1 bilateral case). Average age 28 years old. Twenty nine mixed tumors (78%); most frequent histology embryonal carcinoma (76%). Average surgery time 2 hr 7 min; average dissected lymph nodes 13. Introoperative complications: 2,8%; postoperative complications: a) early 5,6%; b) late: 5,6%. No mortality, no second surgeries nor blood transfusions. Four cases of positive RRL (11%). Only retroperitoneal relapses in 2 cases (8%), one out of the limits of dissection. Chemotherapy in 7 patients (19%) a total of 18 cycles. Four cases of contralateral tumor during follow-up (11%). Hundred percent survival at 76 months (16-160). We described sensibility, specificity, positive and negative predictive value of metastatic risk factors. Only epididymis infiltration was a significant predictor of metastasis (p=0,04). CONCLUSIONS: In our hands RRL is a safe surgery, with 5,6% mayor complications. The low false negative rate of CT in staging (11%) and the high number of retroperitoneal relapses (8%) in our study contrast with those of other publications. Limited by the size of our study group, the epididymis infiltration was the only statistically significant predictor of metastasis. Clinical stage I NSGCTC initially managed with RRL has a 100% survival.