Importance of the urinary system evaluation in adult patients with spina bifida

Los pacientes con espina bífida pueden presentar defectos multisistémicos siendo el sistema urinario uno de los principales en afectarse. En las últimas décadas ha aumentado la población de pacientes adultos con espina bífida debido a la mejora en la sobrevida desde la edad pediátrica, por lo que surge la necesidad de conocer el manejo de estos pacientes tanto por el equipo de salud tratante de adultos, como por ellos mismos y sus cuidadores. Esta revisión ha sido elaborada con bibliografía de la base de datos PubMed desde 1977 a 2018 usando términos MeSH “spina bífida” y “urinary”, además de la experiencia chilena. Se describen las principales complicaciones del sistema urinario en pacientes adultos con espina bífida y sugerencias de su manejo.The patients with spina bifida may have multisistemic defects, mainly the urinary system. Population of adult patients with spina bifida has increased in last decades by the improved survival from pediatric age, emerging the need to know the management of these patients by clinicians, patients and their caregivers. This review was made with scientific articles available in PubMed database from 1977-2018 using search MeSH terms “spina bifida” and “urinary”, and the Chilean experience. Herein we discuss the main complications of urinary system of adult patients with spina bifida and their suggestive management

Selective embolization of the internal iliac arteries for the treatment of intractable hemorrhage in children with malignancies

PurposeAcute internal hemorrhage is an occasionally life-threatening complication in pediatric cancer patients. Many therapeutic approaches have been used to control bleeding with various degrees of success. In this study, we evaluated the efficacy of selective internal iliac artery embolization for controlling acute intractable bleeding in children with malignancies.MethodsWe retrospectively evaluated the cases of 6 children with various malignancies (acute lymphoblastic leukemia, acute myelogenous leukemia, chronic myelogenous leukemia, T-cell prolymphocytic leukemia, Langerhans cell histiocytosis, and rhabdomyosarcoma), who had undergone selective arterial embolization (SAE) of the internal iliac artery at the Chonnam National University Hwasun Hospital between January 2004 and December 2009. SAE was performed by an interventional radiologist using Gelfoam® and/or Tornado® coils.ResultsThe patients were 5 boys and 1 girl with median age of 6.9 years (range, 0.7-14.8 years) at the time of SAE. SAE was performed once in 4 patients and twice in 2, and the procedure was unilateral in 2 and bilateral in 4. The causes of hemorrhage were as follows: hemorrhagic cystitis (HC) in 3 patients, procedure-related internal iliac artery injuries in 2 patients, and tumor rupture in 1 patient. Initial attempt at conservative management was unsuccessful. Of the 6 patients, 5 (83.3%) showed improvement after SAE without complications.ConclusionSAE may be a safe and effective procedure for controlling acute intractable hemorrhage in pediatric malignancy patients. This procedure may obviate the need for surgery, which carries an attendant risk of morbidity and mortality in cancer patients with critical conditions

Y chromosome microdeletion prevalence in infertile Chilean men

Objective: The aim of this study is to determine the prevalence of Y chromosome microdeletions in infertile Chilean men. Material and methods: A group of 102 infertile men with azoospermia or severe oligozoospermia were screened while attending a fertility clinic for microdeletions in the azoospermia factor (AZF) region of Y chromosome by multiplex polymerase chain reaction. Genomic DNA was extracted from peripheral blood samples. Each patient was analysed for the presence of sequence tagged sites in the AZFa, AZFb, and AZFc regions. Results: Azoospermia and severe oligozoospermia was found in 67 and 35 patients, respectively. Microdeletions were found in 9.8% of patients. The most prevalent mutation was AZFc, affecting 3.9% of the sample. This was followed by AZFbc with 2.9%, AZFa with 2.0%, and AZFb with 1.0%. Only azoospermic men were found to have these genetic alterations. Conclusions: Prevalence of Y chromosome microdeletions in infertile Chilean men is similar to the prevalence presented in international studies. As AZFa and AZFb mutations are associated with complete absence of viable gametes, and AZFc has important consequences in the fertility potential of the offspring, these mutations have to be searched when presented with an infertile patient with severe sperm alterations

Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with sertoli cell-only syndrome

STUDY QUESTION: Is the expression of steroidogenic enzyme 17 alpha-Hydroxylase/17,20-Lyase (CYP17A1) down-regulated in Leydig cells (LCs) of men with spermatogenic failure and compensated impairment of LC function, i.e. a low testosterone to LH (T/LH) ratio? SUMMARY ANSWER: Although the transcriptional expression of CYP17A1 is increased, its protein expression is decreased, in isolated LCs of men with spermatogenic failure and reduced serum T/LH. WHAT IS KNOWN ALREADY: Primary spermatogenic defects have been associated with functional and morphological abnormalities of LCs, characterized by decreased serum testosterone (T) levels, decreased T/LH, increased 17 beta-estradiol (E2) and E2/T ratio, and larger clusters of LCs (LC hyperplasia). CYP17A1 is a key enzyme in the testosterone pathway and has been implicated in the steroidogenic lesion produced by E2 stimulation. STUDY DESIGN, SIZE, DURATION: We studied 18 azoospermic patients with Sertoli cell-only syndrome (SCOS) and signs of LC dysfunction (cases) and 10 obstructive azoospermic/oligozoospermic men with normal spermatogenesis (controls). The SCOS patients were sub-grouped into 9 cases with T/LH = 2. All of the men underwent testicular biopsy for sperm retrieval at the Reproductive Unit of a University Hospital. PARTICIPANTS/MATERIALS, SETTING, METHODS: The transcriptional expression of CYP17A1 and SF-1 (steroidogenic factor 1) was quantified by SYBR (R) Green-based qPCR in LCs isolated by laser capture microdissection (LCM), and relative expression to the control pool was assessed. CYP17A1 protein expression was semi-quantified by indirect immunofluorescence (IFI) using Image-Pro Plus v7.0 (Media Cybernetics) in testicular tissue. FSH and LH serum concentrations, and serum and intratesticular T (ITT) and E2 (ITE2) were measured by IRMA and RIA, respectively. MAIN RESULTS AND THE ROLE OF CHANCE: Relative CYP17A1 mRNA expression was increased in cases with T/LH = 2, by a mean of 3.3-fold (P = 0.002). No corresponding increase in protein expression was found; in fact, CYP17A1 immunostaining intensity assessed by the Integrated Optical Density (IOD) parameter was lower in the cases with T/LH <2 compared to controls (P = 0.008). Relative SF-1 mRNA expression was similar in both case subgroups. CYP17A1 mRNA expression correlated with ITE2 and intratesticular E2/T (r = 0.536; P = 0.026 and r = 0.542; P = 0.016, respectively), while an inverse association was observed for ITE2 and protein level expression (r = -0.421; P = 0.05). LARGE SCALE DATA: Not applicable. LIMITATIONS REASONS FOR CAUTION: We should interpret the results of the semi-quantification of immunofluorescent staining by Image-Pro Plus software with caution, because it is a semi-quantitative method that may have certain difficulties regarding the disposition of protein in the cells. However, it is not influenced by variations in the number of cells that express the protein, as could be the case of western blot analysis in testicular tissue. WIDER IMPLICATIONS OF THE FINDINGS: Dysfunctional LCs of men with SCOS show post-transcriptional deregulation of CYP17A1, with increased mRNA and decreased protein expression, which may be modulated by increased ITE2 levels. In addition, transcriptional expression of CYP17A1 was not associated with changes in SF-1 mRNA expression.National Fund for Scientific and Technological Development (FONDECYT) of Chile 112017

No-scalpel vasectomy

Artículo de publicación ScieloIntroducción: La vasectomía es una técnica segura y efectiva para el control de la fertilidad masculina. A pesar de esto, en el mundo se realizan el doble de esterilizaciones femeninas respecto a vasectomías, lo cual es más acentuado en países en vías de desarrollo. Objetivos: El objetivo de este trabajo es presentar nuestra experiencia y resultados en pacientes sometidos a una vasectomía sin bisturí. Materiales y Métodos: Se incluyó un total de 309 pacientes sometidos a una vasectomía sin bisturí entre junio de 2009 y mayo de 2010. En cada caso se evaluó la edad, tiempo operatorio, espermiograma a los 3 y 6 meses (en caso de ser necesario) y la morbilidad perioperatoria. Resultados: 281 pacientes (91%) se controlaron con al menos un espermiograma. En 189 pacientes (67%) se evidenció azoospermia en el espermiograma a los 3 meses. En 81 pacientes (29%) se evidenció un recuento con ≤ 100.000 espermatozoides 100% inmóviles. En 9 pacientes (3,2%) se necesitó un segundo espermiograma para obtener menos de 100.000 espermatozoides 100% in-móviles. Seis pacientes (2%) consultaron por complicaciones menores: orquialgia, epididimitos o hematoma del sitio operatorio. A 2 años de seguimiento, no se registraron embarazos. Conclusiones: La vasectomía sin bisturí es un método seguro y reproducible de anticoncepción masculina, presentando tasas de efectividad superiores al resto de los métodos anticonceptivos. Un espermiograma de control debe ser realizado a los 3 meses de realizado el procedimiento. La tasa de falla temprana se estima en 0,3% de los pacientes

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,