Factores de riesgo asociados a anomalías congénitas renales y de vías urinarias / Risk factors associated with congenital renal and urinary tract anomalies

Introducción: Las anomalías congénitas renales y de las vías urinarias constituyen la principal causa de enfermedad renal crónica en la edad pediátrica. Su etiología es multifactorial. Intervienen factores maternos, genéticos y ambientales. En Cuba, las afecciones congénitas del riñón y las vías urinarias constituyen una latente preocupación y aunque se ha incrementado el diagnóstico prenatal de las mismas, el número de pacientes diagnosticados es alto. Objetivo: Contribuir al conocimiento de la comunidad científica en relación con los factores de riesgo asociados a las anomalías del desarrollo renal. Métodos: Se realizó una revisión sistemática de la literatura médica disponible en las bases de datos Ebsco, SciELO, Scopus, Pubmed, revistas de nefrología pediátrica, pediatría, genética y teratología; y en la red social académica: Researchgate. Se accedió, durante los últimos cinco años, a varios artículos publicados en español y en inglés. Se utilizaron los descriptores Congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis, congenital abnormalities. Conclusiones: La presencia de la diabetes, desde la etapa preconcepcional y durante las primeras semanas del embarazo, la obesidad, las dietas maternas bajas en proteínas, y las alteraciones de la fertilidad, se asocian a las anomalías del desarrollo renal. Existen factores de riesgo específicos para determinados tipos de defectos congénitos renales y de las vías urinarias. No se considera, que el consumo del ácido fólico tenga un papel protector sobre las alteraciones de la embriogénesis renal, por lo que se recomienda ser cauteloso con la dosis que se administra a las embarazadas.

Introduction: congenital renal and urinary tract anomalies are the main cause of chronic kidney disease in children. Its etiology is multifactorial. Maternal, genetic and environmental factors are involved. In Cuba, congenital renal and urinary tract affections constitute a latent concern, and although their prenatal diagnoses have increased, the number of diagnosed patients is high. Objective: to contribute to the knowledge of the scientific community in relation to the risk factors associated with renal developmental anomalies. Methods: a systematic review of the available medical literature was carried out in Ebsco, SciELO, Scopus and Pubmed databases, in pediatric nephrology, pediatrics, genetics, and teratology journals as well as in the academic social network: Researchgate. Several articles published in Spanish and English languages were accessed during the last five years. The used descriptors were congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis and congenital abnormalities. Conclusions: the presence of diabetes, from the preconceptional stage and during the first weeks of pregnancy, obesity, maternal diets low in protein, and fertility disorders, are associated with renal developmental anomalies. There are specific risk factors for certain types of kidney and urinary tract birth defects. It is not considered that the consumption of folic acid has a protective role on the alterations of renal embryogenesis, so it is recommended to be cautious with the dose administered to pregnant women.

Guía colombiana de tuberculosis genitourinaria / Colombian clinical practice guideline for urogenital tuberculosis

Objetivo: Brindar recomendaciones actualizadas en el diagnóstico, así como en el tratamiento médico y quirúrgico, para urólogos y profesionales de la salud atendiendo pacientes con tuberculosis genitourinaria. Método: Revisión sistemática de la literatura sobre tuberculosis urogenital definiendo preguntas de trabajo con esquema PICO para temas como epidemiología, fisiopatología, diagnóstico, manejo médico y quirúrgico de la enfermedad, y secuelas. Resultados: La tuberculosis genitourinaria presenta una incidencia aproximada del 20%, aunque se estima que hay subregistro importante. En Colombia, la tuberculosis es endémica, pero no hay guías para el diagnóstico y el manejo de este compromiso urogenital, por lo que son una necesidad. La tuberculosis genitourinaria debe sospecharse en pacientes con cuadros inflamatorios o infecciosos urinarios recurrentes, con o sin alteración estructural del tracto genitourinario, sin respuesta al tratamiento farmacológico convencional, sin causa clara o con nexo y factor de riesgo epidemiológico identificado. Puede diagnosticarse por medio de pruebas bacteriológicas, serológicas, moleculares o histopatológicas. En cada caso se requiere una evaluación imagenológica adecuada para determinar el compromiso orgánico o las secuelas, así como la estrategia para el manejo quirúrgico. Conclusiones: La tuberculosis genitourinaria es una condición infectocontagiosa, problema de salud pública, que concierne con gran interés a Colombia. Puede afectar cualquier órgano del tracto genitourinario femenino y masculino. El tratamiento médico oportuno tiene los mejores resultados y las menores tasas de necesidad quirúrgica y de secuelas. El abordaje diagnóstico y terapéutico estandarizado busca mejorar los resultados clínicos, la calidad de vida y la oportunidad del paciente con sospecha de esta enfermedad.

Objective: To provide updated recommendations in diagnosis, as well as for medical and surgical treatment focused on urologists and health-care professionals participating actively in care for urogenital tuberculosis. Method: Systematic review of literature on urogenital tuberculosis, previously defining working clinical questions with PICO scheme for topics such as epidemiology, pathophysiology, diagnosis, medical and surgical therapeutics for the disease. Results: Genitourinary tuberculosis has an incidence of approximately 20%, although a significant underreporting is estimated. In Colombia, tuberculosis infection is endemic, but there are no guidelines focused on this urogenital involvement, so there is a necessity. Urogenital tuberculosis should be suspected in patients with recurrent urinary inflammatory or infectious conditions, with or without structural alterations of genitourinary tract, who do not respond to conventional pharmacological treatment, with no apparent cause or have identified epidemiological link and risk factors. Diagnosis can be made by serological, bacteriological, molecular tests or histopathology. In each case, adequate imaging evaluation is mandatory to determine organ involvement, sequelae, and as strategy for surgical treatment. Conclusions: Genitourinary tuberculosis is an infectious disease, a public health issue, which concerns Colombia. It can affects any female and male urogenital tract organic tissue. Timely pharmacological management offers and has the best clinical results and lowest rates of surgical need or sequelae. The standardized diagnostic and therapeutic approach seeks to improve clinical outcomes, quality of life and opportunity for patients with suspected disease.

Síndrome De Herlyn ­ Werner ­ Wünderlich. A proposito de un caso / Herlyn ­ Werner ­ Wünderlich Syndrome. About a case

Presentamos el caso de una paciente de 11 años que presento un cuadro clínico de oligomenorrea, leucorrea y dolor pélvico tipo cólico. Se ha pensado por el dolor abdominal en la posibilidad de apendicitis modificada por lo que se realizó ecografía pélvica con los hallazgos de útero didelfo, quiste anexial derecho y agenesia renal izquierda, datos compatibles con síndrome de Herlyn ­ Werner ­ Wünderlich

We present the case of an 11-year-old patient who presented a clinical picture of oligomenorrhea, leucorrhoea and pelvic pain type colic. It has been thought for abdominal pain in the possibility of modified appendicitis so pelvic ultrasound was performed with the findings of didelphic uterus, right adnexal cyst and left renal agenesis, data compatible with Herlyn ­ Werner ­ Wünderlich syndrome.

Creation of a Pilot Surgical Program for the Comprehensive Management of Patients with Congenital Urological Malformations / Creación de un programa quirúrgico piloto para el manejo integral de pacientes con malformaciones urológicas congénitas

Objectives Congenital malformations constitute the first cause of morbidity and mortality in childhood in Latin America. That is why, since 2001, a surveillance system for congenital malformations has been implemented in Bogota - Colombia. However, despite the increase in detection, an impact on treatment has not been achieved. The present study describes our experience with a novel social program focused on congenital urologic disorders. Methods The present manuscript is a retrospective observational study. We reviewed two national databases containing patients with congenital malformations. Patients were actively contacted to verify the status of the malformations. Children in whom the malformation was confirmed were offered a free consultation with a multidisciplinary group. After screening for surgical indications, patients were scheduled for surgery. Results Between November 2018 and December 2019, 60 patients were identified. In total 44, attended the consultation; the remaining did not attend due to financial or travel limitations. The most common condition assessed was hypospadias. In total, 29 patients underwent surgery. The total cost of care was of US$ 5,800. Conclusions Active search improves attention times and reduces the burden of disease. The limitations to be resolved include optimizing the transportation of patients and their families, which is a frequent limitation to access health care.

Objetivos Las malformaciones congénitas corresponden a la principal causa de morbimortalidad en la infancia en América Latina, motivo por el cual desde el 2001 se viene implementando un sistema de vigilancia epidemiológica de malformaciones congénitas en Bogotá, Colombia. Sin embargo, a pesar del aumento en la cobertura del reporte obligatorio, no se ha logrado un impacto sobre su tratamiento. Este estudio busca mostrar nuestra experiencia con un programa integral de pacientes con malformaciones urológicas congénitas. Métodos El presente es un estudio observacional retrospectivo. Los menores con malformaciones congénitas fueron identificados en dos bases de datos nacionales que incluyen pacientes con malformaciones congénitas. Los pacientes reportados fueron contactados telefónicamente para verificar el estado actual de la malformación. A aquellos niños en quienes se les confirmó la malformación, se les ofreció de manera gratuita una consulta con un grupo multidisciplinario. Una vez confirmadas las indicaciones quirúrgicas, fueron llevados a cirugía. Resultados Se identificaron 60 pacientes entre noviembre del 2018 y diciembre de 2019. De los pacientes identificados, 44 acudieron a consulta. Los demás no asistieron por limitaciones económicas. La principal condición valorada fue hipospadias. En total, 29 pacientes fueron llevados a cirugía. El costo total de la atención de estos pacientes fue de 22 millones de pesos colombianos. Conclusiones La búsqueda activa mejora los tiempos de atención y reduce la carga de la enfermedad. Una de las limitaciones aun por resolver es optimizar el transporte de los pacientes y sus familias, que resulta una limitación frecuente para el acceso a la salud.

Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.@*METHODS@#The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.@*RESULTS@#The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.@*CONCLUSION@#The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.

Diagnosing Septate Uterus Using Three-Dimensional Ultrasound Using Three Different Classifications: An Interobserver and Intraobserver Agreement Study / Diagnóstico de útero septado com ecografia tridimensional usando três classificações diferentes: Um estudo de concordância interobservador e intraobservador

Abstract Objective Currently, there are up to three different classifications for diagnosing septate uterus. The interobserver agreement among them has been poorly assessed. To assess the interobserver agreement of nonexpert sonographers for classifying septate uterus using the European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE/ESGE), American Society for Reproductive Medicine (ASRM), and Congenital Uterine Malformations by Experts (CUME) classifications. Methods A total of 50 three-dimensional (3D) volumes of a nonconsecutive series of women with suspected uterine malformation were used. Two nonexpert examiners evaluated a single 3D volume of the uterus of each woman, blinded to each other. The following measurements were performed: indentation depth, indentation angle, uterine fundal wall thickness, external fundal indentation, and indentation-to-wall-thickness (I:WT) ratio. Each observer had to assign a diagnosis in each case, according to the three classification systems (ESHRE/ESGE, ASRM, and CUME). The interobserver agreement regarding the ESHRE/ESGE, ASRM, and CUME classifications was assessed using the Cohen weighted kappa index (k). Agreement regarding the three classifications (ASRM versus ESHRE/ESGE, ASRM versus CUME, ESHRE/ESGE versus CUME) was also assessed. Results The interobserver agreement between the 2 nonexpert examiners was good for the ESHRE/ESGE (k = 0.74; 95% confidence interval [CI]: 0.55-0.92) and very good for the ASRM and CUME classification systems (k = 0.95; 95%CI: 0.86-1.00; and k = 0.91; 95%CI: 0.79-1.00, respectively). Agreement between the ESHRE/ESGE and ASRM classifications was moderate for both examiners. Agreement between the ESHRE/ESGE and CUME classifications was moderate for examiner 1 and good for examiner 2. Agreement between the ASRM and CUME classifications was good for both examiners. Conclusion The three classifications have good (ESHRE/ESGE) or very good (ASRM and CUME) interobserver agreement. Agreement between the ASRM and CUME classifications was higher than that for the ESHRE/ESGE and ASRM and ESHRE/ESGE and CUME classifications.

Resumo Objetivo Atualmente, existem até três classificações diferentes para o diagnóstico de útero septado. A concordância interobservador entre eles tem sido pouco avaliada. Avaliar a concordância interobservador de ecografistas não especialistas para classificar úteros septados usando as classificações European Society of Human Reproduction and Embryology/European Society for Gynaecological Endoscopy (ESHRE/ESGE, na sigla em inglês), American Society for Reproductive Medicine (ASRM, na sigla em inglês) e Congenital Uterine Malformations by Experts (CUME, na sigla em inglês). Métodos Foram utilizados50volumes tridimensionais (3D)deuma série não consecutiva de mulheres com suspeita de malformação uterina. Dois examinadores não especialistas avaliaram um único volume 3D do útero de cada mulher, mutuamente cegos. As seguintes medidas foram aferidas: profundidade de indentação, ângulo de indentação, espessura da parede do fundo uterino, indentação externa do fundo e relação entre indentação e a espessura da parede (I:WT, na sigla em inglês). Cada observador teve que atribuir um diagnóstico em cada caso, de acordo com os três sistemas de classificação (ESHRE/ESGE, ASRM e CUME). A concordância interobservador em relação às classificações ESHRE/ESGE, ASRM e CUME foi avaliada usando o índice kappa ponderado de Cohen (k). A concordância em relação às três classificações (ASRM versus ESHRE/ESGE, ASRM versus CUME e ESHRE/ ESGE versus CUME) também foi avaliada. Resultados A concordância interobservador entre os 2 examinadores não especialistas foi boa para a classificação ESHRE/ESGE (k = 0,74, intervalo de confiança [IC] 95%: 0,55-0,92) e muito boa para os sistemas de classificação ASRM e CUME (k = 0,95; IC 95%: 0,86-1,00; e k = 0,91; IC95%: 0,79-1,00, respectivamente). A concordância entre as classificações ESHRE/ESGE e ASRM foi moderada para ambos os examinadores. A concordância entre as classificações ESHRE/ESGE e CUME foi moderada para o examinador 1 e boa para o examinador 2. A concordância entre as classificações ASRM e CUME foi boa para ambos os examinadores. Conclusão As três classificações apresentam concordância interobservador boa (ESHRE/ESGE) ou muito boa (ASRM e CUME). A concordância entre as classificações ASRM e CUME foi maior do que entre as classificações ESHRE/ESGE e ASRM e ESHRE/ESGE e CUME.

Síndrome de Herlyn-Werner-Wunderlich: reporte de caso y revisión de la literatura / Herlyn-Werner-Wunderlich syndromne: case review and report of the literatura

RESUMEN Objetivo: Presentar un reporte de caso de síndrome de Herlyn Werner Wunderlich (SHWW) y hacer una revisión de la literatura para determinar los hallazgos clínicos e imagenológicos en estas pacientes. Materiales y métodos: Se presenta el caso de una mujer de 16 años que consultó, en un hospital de las fuerzas militares en Bogotá, por dolor pélvico recurrente, su diagnostico final fue SHWW. Se realizó una búsqueda sistemática de la literatura en las diferentes bases de datos, revisiones sistemáticas, cohortes, series de casos y reportes de casos en pacientes con diagnóstico de SHWW en cualquier edad, se obtuvo información sobre las características de presentación clínica, y las tecnologías diagnósticas más frecuentemente utilizadas. Se hace resumen narrativo de los hallazgos. Resultados: Se incluyeron 77 publicaciones, un total de 676 pacientes. Los síntomas más frecuentes fueron dismenorrea (63,9 %), seguido de dolor pélvico (35,2%). Las tecnologías diagnósticas más utilizadas fueron el ultrasonido pélvico en un 92,1% y la resonancia magnética nuclear en un 74,6% de los casos. La histeroscopia y laparoscopia son poco utilizados en el diagnóstico. Conclusión: El SHWW es una entidad poco frecuente, debe hacer parte del estudio complementario de la agenesia renal del paciente pediátrico y del diagnóstico diferencial de la dismenorrea primaria en pacientes en la adolescencia. Se requiere evaluar con estudios de cohorte más grandes la utilidad de la histeroscopia en estas pacientes.

ABSTRACT Objective: To report a case of Herlyn-Werner-Wunderlich syndrome (HWWS) and conduct a review of the literature to determine clinical and imaging findings in these patients. Material and methods: A 16-year-old female patient who presented to a military hospital in Bogota complaining of recurrent pelvic pain, receiving a final diagnosis of HWWS. A systematic search was conducted in the different databases of systematic reviews, cohort studies, case series and case reports of patients of any age diagnosed with HWWS. Clinical presentation characteristics and the most frequent diagnostic technologies used were obtained. A narrative summary of the findings is presented. Results: Overall, 77 publications with a total of 676 patients were included. The most frequent symptom was dysmenorrhea (63.9%), followed by pelvic pain (35.2%). The most frequently used diagnostic technologies were pelvic ultrasound in 92.1% of cases and nuclear magnetic resonance in 74.6%. Hysteroscopy and laparoscopy are seldom used for diagnosing this condition. Conclusion: HWWS is an infrequent disease condition. It must be part of the work-up for renal agenesis in pediatric patients and of the differential diagnosis in primary dysmenorrhea in adolescence. The role of hysteroscopy in this condition must be further assessed in larger cohort studies.

Diagnóstico prenatal de anomalías nefrourológicas en el Centro de Referencia Perinatal Oriente, Santiago, Chile / Prenatal diagnosis of nefrourological anomalies at the Eastern Perinatal Referral Center, Santiago, Chile

INTRODUCCIÓN: Las anomalías congénitas de los riñones y las vías urinarias (CAKUT, Congenital Anomalies of the Kidney and Urinary Tract) representan un 20-30% de las anomalías detectadas en el periodo prenatal. Si bien la mayoría son de buen pronóstico, un 25% se asocian a enfermedad renal crónica en la infancia y en los casos graves a mortalidad perinatal. OBJETIVO: Describir los casos ingresados al Centro de Referencia Perinatal Oriente (CERPO) y determinar los resultados perinatales y la sobrevida al año. MÉTODO: Estudio descriptivo y retrospectivo. Se incluyeron pacientes ingresadas en la base de datos CERPO, entre los años 2003 y 2019, con diagnóstico de anomalía nefrourológica. Se incluyeron antecedentes prenatales, perinatales y de seguimiento posnatal al año. RESULTADOS: Se evaluaron 273 pacientes. La edad gestacional promedio de derivación fue de 29 semanas + 2 días. El diagnóstico más frecuente fueron las anomalías del tracto de salida (69%). Un 40% de los casos se asociaron a otras anomalías congénitas, siendo las cardiopatías las más frecuentes (19%). Aceptaron la realización de estudio genético invasivo 38 pacientes, de las cuales un 34% presentaron aneuploidías, siendo las trisomías 18 y 13 las más frecuentes (17% y 6%, respectivamente). Se instalaron cinco shunts derivativos vesicoamnióticos en fetos diagnosticados con megavejiga. La sobrevida global para la patología nefrourológica fue del 63% al año, y la mortalidad fetal y neonatal fue del 7% y el 16%, respectivamente. La sobrevida al año según el grupo de clasificación CAKUT fue del 22% para las anomalías de número de riñones, del 46% para las anomalías de tamaño y de morfología renal, del 60% para las anomalías de la posición renal y del 72% para las anomalías del tracto de salida. En este último grupo, la sobrevida alcanza el 81% al excluir los pacientes con diagnóstico prenatal de megavejiga, que presentaron una sobrevida al año del 28%. Los casos de patología nefrourológica asociada a oligohidramnios (índice de líquido amniótico < 5 cm) sin evidencias de uropatía obstructiva asociada presentaron una sobrevida al año del 3%. CONCLUSIONES: Las anomalías del sistema nefrourológico son un diagnóstico prenatal frecuente. La sobrevida al año fue del 63%, pero es necesario prolongar el seguimiento a largo plazo para determinar la evolución de la función renal en cada diagnóstico. La asociación de patología nefrourológica y oligohidramnios conlleva una sobrevida menor.

INTRODUCTION: Congenital anomalies of the kidneys and urinary tract (CAKUT) represent 20 to 30% of the anomalies detected prenatally. Although most are of good prognosis, 25% are associated with chronic kidney disease in childhood and severe cases with perinatal mortality. OBJECTIVE: To describe the cases studied in the Eastern Perinatal Referral Center (CERPO) and to determine the perinatal outcome and survival at one year. METHOD: Descriptive and retrospective study. Patients registered on the CERPO database, between 2003 to 2019, with diagnosis of nephrourological anomaly were included. Antenatal, perinatal and postnatal follow-up information was collected. RESULTS: 273 patients were evaluated. The average gestational age at referral was 29 + 2 weeks. The main diagnosis was urinary tract outlet disorders (69%). Thirty nine percent of the cases were associated with other congenital anomalies, with heart disease being the most frequent (19%). Thirty-eight patients accepted an invasive procedure for genetic study, 34% presented aneuploidy, trisomy 18 and 13 were the most frequent (17% and 6% respectively). Five vesico-amniotic derivative shunts were installed in fetuses diagnosed with megabladder. Overall survival at one year was 63% and fetal and neonatal mortality were 7% and 16% respectively. One-year survival per group according to CAKUT classification was 22% in kidney number abnormalities, 46% in kidney size and morphology abnormalities, 60% in renal position abnormalities and 72% in outflow tract abnormalities. In the latter, survival reaches 81% excluding the patients with prenatal diagnosis of megabladder who had a one-year survival of 28%. The cases of nephrourological pathology associated with oligohydramnios (amniotic fluid index < 5 cm) without evidence of associated obstructive uropathy presented a survival of 3% at one year. CONCLUSIONS: The anomalies of the nephrourological system correspond to a frequent prenatal diagnosis. Overall, the one-year survival was 63%; however, follow-up must continue to determine the evolution of renal function in relation to each diagnosis.

Surgical correction of bilateral ectopic ureter using the neoureterocystostomy technique / Correção cirúrgica de ureter ectópico bilateral utilizando a técnica de neoureterocistostomia

Ureteral ectopy is a rare disorder in the small animals' clinic. It is characterized as a congenital anomaly, resulting from the ducts differentiation failure during embryogenesis. In this scenario, the ureters present themselves outside the anatomical site, being inserted into the uterus, urethra, urinary vesicle neck, or vagina. The clinical signs are urinary incontinence and perivulvar dermatitis. Surgery is the accepted treatment to correct the anomaly. The surgical procedure is based on relocating the ectopic ureter and treating associated modifications. This report describes a case of intramural bilateral ureteral ectopy, corrected surgically through the neoureterocystostomy technique, making it possible to control the animal's urinary incontinence.(AU)

A ectopia ureteral é uma afecção de incidência rara na clínica de pequenos animais, sendo caracterizada como anomalia congênita resultante de falha na diferenciação dos ductos durante a embriogênese. Neste cenário, os ureteres se apresentam fora do seu local anatômico, sendo inseridos no útero, no colo da vesícula urinária, na uretra ou na vagina. Os sinais clínicos comumente apresentados são a incontinência urinária bem como a dermatite perivulvar. O tratamento de eleição para correção da anomalia é o procedimento cirúrgico, no qual a técnica de escolha é baseada na relocação do ureter ectópico e tratamento das alterações associadas. Neste contexto, o presente relato descreve um caso de ectopia ureteral bilateral intramural, corrigido cirurgicamente por meio da técnica neoureterocistostomia, o que possibilitou controle da incontinência urinária do paciente.(AU)

“Antipodal asymmetry” – The undiagnosed twin in the opposite uteri: A case report of dicavitary twin pregnancy in uterine didelphys / Philippine Journal of Obstetrics and Gynecology

@#Muüllerian duct anomalies (MDAs) are congenital defects arising from probable teratogenic assault at 6–22 weeks of gestation.Uterine didelphys arises from complete lack of fusion of Muüllerian ducts, resulting in two entirely separate hemiuteri, cervices and vaginas.The incidence of MDA is <5% and the frequency of uterine didelphys is 1 in 1000–30,000 women and twin pregnancy in uterus didelphys is only 1 in a million. This is a case of a gravida 1 para 0, with uterine didelphys and unilateral renal agenesis diagnosed of single live intrauterine pregnancy in the left half of uterine didelphys who had a spontaneous passage of meaty material from the right hemiuterus which were histopathologically consistent with degenerating products of conception, hence confirming a dicavitary twin pregnancy. Management should be wholistic encompassing preconception, prenatal, intrapartum, and postpartum period as any complications may arise at any point.

Nefrectomia en la edad pediátrica con técnica de cirugia minimamente invasiva: abordaje retroperitoneal como estándar de oro para el paciente sin o con enfermedad renal crónica (premio dr. efrain vargas año 2014) / Nephrectomy in pediatric age with minimally invasive surgery technique: retroperitoneal approach as a gold standard for patients without or with chronic kidney disease (Dr. Efrain Vargas Award 2014)

Existen múltiples patologías del tracto urinario, ya sea congénitas o adquiridas, que requieren de tratamiento quirúrgico de Nefrectomía total o parcial. En el siguiente estudio longitudinal prospectivo se incluyen 21 nefroureterectomías en pacientes pediátricos con patología del tracto urinario con o sin enfermedad renal crónica y algún tipo de terapia de reemplazo renal, realizados con la técnica de Cirugía Minimamente Invasiva (CMI) abordaje retroperitoneal o retroperitoneoscopía. (AU)

There are several urinary tract diseases, such as congenital or adquired, that require total or partial nephrectomy. This prospective longitudinal study included 21 total nephrectomies in pediatric patients with or without end stage renal disease and some kind of renal replacement therapy. All surgeries were done with retroperitoneal approach using minimally invasive surgery (MIS), retroperitoneoscopy. (AU)

Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical manifestations and gene variants of patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).@*METHODS@#Clinical data of 7 pedigrees affected with BPES were collected, and genomic DNA was extracted from peripheral blood samples of the probands and their relatives. All exons of the FOXL2 gene were subjected to Sanger sequencing. Those with negative findings were further screened by targeted capture and next generation sequencing (NGS) and microarray analysis. Pathogenicity of candidate variants were predicted by search of PubMed and related databases, and the impact of the variants was interpreted by protein prediction software. Diagnosis was confirmed by clinical phenotype, medical history and mutation analysis.@*RESULTS@#A pathogenic variant was identified in six of the 7 pedigrees, which included four known pathogenic variants and one novel FOXL2 c.299dupA variant. A heterozygous 3q22.3q23 deletion, which encompassed the FOXL2 gene, was identified in another pedigree.As predicted, the c.299dupA frameshift mutation of FOXL2 gene can lead to the premature termination of protein translation, which is pathogenic.@*CONCLUSION@#A novel and 5 known pathogenic variants have been identified in six pedigrees affected with BPES by the combined Sanger sequencing, target capture NGS and microarray analysis. Above findings have enabled genetic counseling and prenatal diagnosis for these pedigrees.

Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis / Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

RESUMEN Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

ABSTRACT Objective: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. Materials and methods: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is made on ways to improve the specialty. Conclusion: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.

Caracterización clínica epidemiológica de los defectos congénitos del tracto genitourinario / Clinical-epidemiological Characterization of Congenital Defects of the Urinary Tract

Introducción: La malformación congénita es una alteración estructural de un órgano o parte de este, que sucede como consecuencia de una alteración durante la morfogénesis y que puede corresponder a defectos menores o mayores, únicos, múltiples o asilados. Objetivo: Caracterizar clínica y epidemiológicamente los defectos congénitos del tracto genitourinario. Métodos: Se realizó un estudio observacional retrospectivo en 453 fetos con diagnóstico por ecografía bidimensional de defecto congénito del tracto genitourinario. Para ello se tomó en cuenta la edad materna y gestacional al diagnóstico, antecedentes personales y familiares de interés clínico genético y la conducta terapéutica según criterio médico. Los datos fueron procesados mediante el Programa Microsoft Excel 2010, aplicándoles el método porcentual y los resultados expuestos en forma de tablas. Resultados: El 75,27 por ciento de las anomalías se presentaron en gestantes con edad materna entre 20 y 34 años. El 62,6 por ciento de los defectos fueron diagnosticados en el segundo trimestre del embarazo, con predominio del sexo masculino en los fetos estudiados. La pielocaliectacia (27,3 por ciento) resultó la principal causa de evaluación inicial seguida de la hidronefrosis (26,2 por ciento). Hubo correlación entre el diagnóstico definitivo por ultrasonido y el resultado de la necropsia. Los casos en seguimiento no presentaron ninguna complicación y solo en nueve gestantes se registró interrupción anterior por defectos genitourinarios. Conclusiones: Se constató aumento progresivo del diagnóstico de anomalías congénitas del tracto genitourinario por años de estudio, las pielocaliectacias bilaterales resultaron la principal causa de evaluación inicial(AU)

Introduction: A congenital malformation is a structural alteration of an organ or part of it, which happens as a consequence of an alteration during morphogenesis and may correspond to minor or major, unique, multiple or isolated defects. Objective: To characterize, clinically and epidemiologically, the congenital defects of the genitourinary tract. Methods: A retrospective observational study was carried out in 453 fetuses diagnosed with a congenital defect of the genitourinary tract by using two-dimensional ultrasound. For this, we considered the maternal and gestational ages at diagnosis, personal and family history of clinical genetic interest, and therapeutic behavior according to medical criteria. The data was processed using the program Microsoft Excel 2010, applying the percentage method and the results presented in tables. Results: 75.27 percent of the anomalies occurred in pregnant women with maternal ages between 20 and 34 years. 62.6 percent of the defects were diagnosed at second trimester of pregnancy, with a predominance of the male sex in the studied fetuses. Pyelocaliectasis (27.3 percent) was the main cause of initial evaluation, followed by hydronephrosis (26.2 percent). There was a correlation between the definitive ultrasound diagnosis and the outcome of the autopsy. The follow-up cases did not present any complications and only nine pregnant women presented a previous interruption due to genitourinary defects. Conclusions: A progressive increase in the diagnosis of congenital anomalies of the genitourinary tract was verified for years of study. Bilateral pyelocaliectasis was the main cause of initial evaluation(AU)

Síndrome de OHVIRA, a propósito de un caso / A case of OHVIRA syndrome

Resumen Introducción: El síndrome de obstrucción hemivaginal y anomalía renal ipsilateral (OHVIRA, por sus siglas en inglés) o también llamado síndrome de Herlyn-Werner-Wunderlich es una rara malformación mulleriana que consiste en la presencia de útero didelfo, obstrucción hemivaginal y anomalía renal ipsilateral. La incidencia de malformaciones mullerianas son del 2 al 3%, y la menos común es el síndrome de OHVIRA. Objetivo: Descripción de un caso excepcional de alteraciones mullerianas poco conocido. Presentación del caso: Adolescente de 14 años con historia de dolor pélvico, dismenorrea e infecciones urinarias a repetición. Se estudió con gammagrafía renal que reveló agenesia renal derecha y resonancia magnética pélvica que mostró útero didelfo con hematocolpos derechos. Se confirmaron los hallazgos por laparoscopia diagnóstica. Conclusiones: Este síndrome es poco conocido. Debe sospecharse en casos de agenesia renal, dolor pélvico crónico y alteraciones menstruales en pacientes postpuberes. El abordaje es multidisciplinario.

Abstract Introduction: The obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome, also known as the Herlyn-Werner-Wunderlich syndrome, is a rare müllerian anomaly characterized by didelphic uterus, hemivaginal obstruction, and ipsilateral renal anomaly. The incidence of müllerian malformations is 2% - 3%, OHVIRA being the least common of these cases. Objective: To describe an exceptional case of a müllerian disorder. Case presentation: A 14-year-old adolescent with a history of pelvic pain, dysmenorrhea, and recurrent urinary infections. Renal gammagraphy analysis revealed right renal agenesis, and pelvic magnetic resonance imaging showed a didelphic uterus with right hematocolpos. These findings were confirmed by diagnostic laparoscopy. Conclusions: This syndrome is not well known. Renal anegesis, chronic pelvic pain, and menstrual abnormalities in post-pubertal patients must be presumed as indicators of OHVIRA, whose treatment requires a multidisciplinary approach.

Malformaciones urológicas en niños, en el Servicio de Cirugía Pediátrica del Hospital José Carrasco Arteaga. Enero 2014 ­ Diciembre 2018 / Urinary Tract Abnormalities, in Hospital José Carrasco Arteaga Pediatric Surgery Department. January 2014- December 2018

INTRODUCCIÓN: Las malformaciones congénitas urogenitales son diversas y pueden afectar las distintas estructuras que conforman el mencionado sistema. La importancia del diagnóstico oportuno de estas alteraciones radica en evitar un daño sobre el riñón pediátrico. El objetivo de este estudio fue identificar la frecuencia de las diferentes malformaciones urogenitales en pacientes pediátricos, en el Servicio de Pediatría del Hospital José Carrasco, durante el período enero 2014 ­ diciembre 2018. MÉTODOS: Estudio descriptivo transversal, con un universo de 230 casos de niños con diagnóstico confirmado de malformación congénita urogenital confirmada, del Servicio de Pediatría del Hospital José Carrasco del IESS ­ Cuenca, durante el período enero 2014 ­ diciembre 2018. Se excluyeron 47 niños con registro médico incompleto. Se estudiaron en total 183 pacientes. RESULTADOS: La frecuencia de malformaciones urológicas fue 2.73% (n=183), con predominio en lactantes con el 56%, en el sexo masculino con el 57%. 26.78% de los pacientes presentaron clínica relacionada con infección de las vías urinarias. Se realizó ecografía al 95% de niños, uretrocistografía 55% y gammagrafía renal 31%. El hallazgo prenatal se hizo en el 34.97% de los casos. La malformación más frecuente fue la hidronefrosis transitoria 70%, seguida de reflujo Vesico-Ureteral (RVU) 16.39% (n=30), estenosis pieloureteral 5.46% (n=10), megauréter 6.55% (n=12) y displasia renal 1.63% (n=3). CONCLUSIÓN: Las malformaciones urológicas son comunes entre las malformaciones genéticas, la mayoría son asintomáticas; en nuestro medio debido a un bajo diagnóstico prenatal se detectan en los primeros 24 meses de vida. La hidronefrosis transitoria es la malformación más frecuente. La infección urinaria es el punto de partida en este grupo de pacientes; ante la sospecha de la malformación, la ecografía está indicada siempre.(au)

BACKGROUND: Congenital urinary tract abnormalities are diverse, and can affect different structures of this system. The importance of early diagnosis is avoiding kidney damage in the children. The aim of this study was to identify the frequency of urinary tract abnormalities in pediatric patients, in Hospital José Carrasco Arteaga Pediatric Surgery Department, from January 2014 to December 2018. METHODS: Descriptive cross-sectional study. The universe were 230 pediatric patients with confirmed diagnosis of congenital urinary tract abnormalities, from Hospital José Carrasco Arteaga Pediatric Surgery Department, from January 2014 to December 2018. Incomplete medical charts were excluded (n=47 children). 183 children were part of the this study. . La malformación más frecuente fue la hidronefrosis transitoria 70%, seguida de reflujo Vesico-Ureteral (RVU) 16.39% (n=30), estenosis pieloureteral 5.46% (n=10), megauréter 6.55% (n=12) y displasia renal 1.63% (n=3). RESULTS: The frequency of urological abnormalities was 2.73% (n = 183), predominately infants with 56%, and 57% male. 26.78% presented with symptoms related to urinary tract infection. Ultrasound was performed in 95% of the children, urethrocistography in 55% and renal scintigraphy in 31%. Prenatal findings were found in 34.97%. The most frequent abnormality was transient hydronephrosis (70%), followed up by vesico-ureteral reflux (VUR) 16.39% (n = 30), pyeloureteral stenosis 5.46% (n = 10), megaureter 6.55% (n = 12) and renal dysplasia 1.63% (n = 3). CONCLUSION: Urological malformations are common between genetic abnormalities, most of them are asymptomatic; locally due to the low rate of prenatal diagnosis, they are diagnosed in between 24 months of age. Transient hydronephrosis is the most frequent abnormality. Urinary tract infections are commonly the starting line in this groups of patients; when malformations are suspected, ultrasound is always suitable.(au)

Maltreatment and non-infant maltreatment, relevance of forensic clinical anatomy, presentation of a case / Maltrato y no maltrato infantil: relevancia de la anatomía clínica forense: presentación de un caso

In a recently published article, Andrea Porzionato et al, they expose the relevance of Forensic Clinical Anatomy as a tool in judicial strata when there are medical-legal implications for suspected child abuse and the presence of anatomical variants and traumatic injuries that at any given time are difficult to differentiate. A case is reported where the careful dissection of a minor's body reveals a congenital malformation of the genital-urinary tract that causes repeated urinary tract infections resulting in sepsis and death, based on this description and the context of death is determined that death is associated with child abuse from lack of medical attention.

En un artículo de reciente publicación, Andrea Porzionato et al, exponen la relevancia de la Anatomía Clínica Forense como herramienta en estratos judiciales cuando existen implicaciones médico-legales por sospecha de maltrato infantil y la presencia de variantes anatómicas y lesiones traumáticas que en un momento dado son difíciles de diferenciar. Se reporta un caso donde la cuidadosa disección del cuerpo de un menor revela una malformación congénita del tracto genital-urinario que ocasiona infecciones repetidas del tracto urinario resultando en sepsis y muerte, con base en esta descripción y se determina el contexto de muerte la cual está asociada con abuso infantil por falta de atención médica.