RESUMEN
OBJECTIVE: This study aimed to compare the effects of bladder diverticula smaller than 30 (SD) mm and larger than 30 mm (LD) on bladder functions and urodynamics. MATERIALS AND METHODS: Our retrospective analysis involved a cohort of 40 pediatric patients diagnosed with primary bladder diverticula. RESULTS: The predicted mean bladder capacity (MBC) was 197.7 ± 95.8 mL, whereas the observed MBC was lower at an average of 170.1 ± 79.6 mL. This indicates that the observed MBC was 88.2 ± 12.9% of the predicted value (percentage). The mean diverticula diameter recorded was 33 ± 19.5 mm, and the diverticula to MBC ratio were calculated to be 0.25 ± 0.18. The distribution of urinary tract infections (UTIs) differed significantly between the groups (p < 0.001). Upper UT dilatation was significantly more common in the LD group (60%, n = 12) than in the SD group (15%, n = 3) (p = 0.003). The mean detrusor pressure (P[detrusor]) was significantly higher in the LD group (137.2 ± 24.1 cm H2O) than in the SD group (63.9 ± 5.8 cm H2O) (p = 0.001). In addition, the mean peak flow rate (Qmax) was significantly higher in the SD group (20.7 ± 7.9 mL/s) compared to the LD group (12.7 ± 3.8 mL/s) (p < 0.001). CONCLUSION: Bladder diverticula size is a significant factor in the clinical presentation and management of primary bladder diverticula in pediatric patients.
OBJETIVO: Este estudio tuvo como objetivo comparar los efectos de los divertículos vesicales menores 30 mm (SD), mayores 30 mm (LD) en las funciones y urodinámica de vejiga. MATERIALES Y MÉTODOS: Nuestro análisis retrospectivo involucró una cohorte de 40 pacientes pediátricos diagnosticados con divertículos vesicales primarios. RESULTADOS: Capacidad vesical media predicha (MBC) fue de 197.7 ± 95.8 mL, mientras que MBC observada fue menor con promedio de 170.1 ± 79.6 mL. Esto indica que MBC observada fue del 88.2 ± 12.9% del valor predicho (porcentaje). Diámetro medio de divertículos registrados fue de 33 ± 19.5 mm, y se calculó que relación entre los divertículos y la MBC era de 0.25 ± 0.18. Distribución de infecciones del tracto urinario (ITU) difirió significativamente entre grupos (p < 0.001). Dilatación del tracto urinario superior (UT) fue significativamente más común en grupo LD (60%, n = 12) que en grupo SD (15%, n = 3) (p = 0.003). Presión media del detrusor (P[detrusor]) fue significativamente mayor en grupo LD (137.2 ± 24.1 cm H2O) que en grupo SD (63.9 ± 5.8 cm H2O) (p = 0.001). Además, tasa de flujo máximo promedio (Qmax) fue significativamente mayor en grupo SD (20.7 ± 7.9 mL/seg) en comparación con grupo LD (12.7±3.8 mL/seg) (p < 0.001). CONCLUSIONES: Tamaño de divertículos vesicales es factor significativo en presentación clínica, manejo de divertículos vesicales primarios en pacientes pediátricos.
Asunto(s)
Divertículo , Vejiga Urinaria/anomalías , Humanos , Niño , Estudios Retrospectivos , Urodinámica , Divertículo/complicaciones , Divertículo/diagnósticoRESUMEN
Partial or complete bladder eversion is a rare condition of poor prognosis in cows, commonly associated with intense tenesmus observed in the peripartum period. A 14-year-old obese Nellore cow at 280 days of gestation was referred with 24-hour bladder prolapse. The bladder was complete eversion through the vulvar vestibule showing a thick congested wall and small residual urine volume. After clinical examination, the cow received scopolamine butylbromide and intercoccygeal epidural anesthesia, and the externalized bladder segment was partially reduced, remaining only 10 cm externalized. The cow was maintained with an intravesical human gastric tube number 16 and constant monitoring. The eversion was fully reduced after 12 hours of local treatment, and as the cow presented subclinical ketosis, hypocalcemia and cystitis, antibiotic, glucose, calcium and propylene glycol therapy were performed. We opted for induction of parturition, and after 24 hours, a healthy 52kg calf was born and the placenta was delivered 16 hours after calving. The cow and calf were discharged on the sixth day of hospitalization, with no recurrences or secondary complications after treatment.
A eversão vesical parcial ou completa é uma condição rara de mau prognóstico em vacas, comumente associada a tenesmo intenso observado no período periparto. Uma vaca Nelore obesa de 14 anos de idade, com 280 dias de gestação, foi encaminhada com prolapso de bexiga de 24 horas. A bexiga apresentava eversão completa por meio do vestíbulo vulvar apresentando parede espessa e congestionada e pequeno volume residual de urina. Após exame clínico, a vaca recebeu butilbrometo de escopolamina e anestesia peridural intercoccígea, e o segmento vesical exteriorizado foi parcialmente reduzido, permanecendo apenas 10cm exteriorizado. A vaca foi mantida com sonda gástrica humana número 16 por via intravesical e monitorada constantemente. A eversão foi totalmente reduzida após 12 horas de tratamento local, e, como a vaca apresentava cetose subclínica, hipocalcemia e cistite, foi realizada antibioticoterapia, glicose, cálcio e propilenoglicol. Optou-se pela indução do parto. Após 24 horas, nasceu um bezerro saudável de 52kg e a placenta foi expelida 16 horas após o parto. A vaca e o bezerro receberam alta no sexto dia de internação, sem recidivas ou complicações secundárias após o tratamento.
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Animales , Bovinos , Vejiga Urinaria/anomalías , Enfermedades de los Bovinos , Cistitis/veterinaria , Complicaciones del Trabajo de Parto/veterinariaRESUMEN
O linfoma é uma neoplasia de alta recorrência na rotina oncológica de medicina veterinária. Pode ser classificado em linfoma Hodgking-liked, com raros casos descritos somente em felinos,e não Hodgking, sendo este segundo o mais comum, subdividido em linfomas B ou T. O objetivo deste trabalho foi relatar a conduta clínica, diagnóstica e terapêutica do caso de uma cadela, de 12 anos, sem raça definida, que manifestava disúria, prostração, dor abdominal e ao exame físico a presença de uma massa na região hipogástrica. Esta foi diagnosticada com linfoma de grandes células por meio de exames de citologia e biópsia, com solicitação do exame de imunoistoquímica que confirmou linfoma difuso de grandes células de imunofenótipo B. Sem o envolvimento de nenhum outro sistema, classificou-se como linfoma primário de bexiga extranodal. O animal passou pelo tratamento quimioterápico realizando nove sessões de quimioterapia pelo protocolo de CHOP, contudo devido ao agravamento do caso a paciente veio a óbito cerca de sete meses após o diagnóstico da doença. O caso estudado foi de extrema importância para a compreensão de linfomas primários de bexiga em razão da escassez de informações relacionadas na literatura. Ainda, o cão é um excelente modelo experimental de linfomas não Hodgking em humanos, consequentemente compreender essa doença em cães promove a evolução conjunta da medicina humana.
Lymphoma is a highly recurrent rate neoplasm in the oncology routine of veterinary medicine. It can be classified into Hodgking-like, rarely described just in felines, and non-Hodgking lymphoma, the latter being the most commun, subdivided into B-cell lymphoma and T-cell lymphoma. The objective of this study was to report the clinical and therapeutic conduct within the diagnosis procedures of a 12-years-old female dog, mixed breed, who manifested dysuria, prostation, abdominal pain and on the physical examination a mass in the hypogastric region was noticed. This was diagnosed as a large cell lymphoma by means cytology and biopsy, also immunohistochemistry was required which confirmed the diffuse large cell lymphoma of immunophenotyping B. Without any other sistem envolved, the neoplasm was classified as primary urinary bladder lymphoma extranodal. The animal underwent chemotherapy, performing nine sessions according to the Madison protocol, however, due to the worsening of the case, the patient died about seven months after the diagnosis of the disease. This case was extremely importante for the understanding of primary urinary bladder lymphomas due to the scarcity of informations in the literature. Also, dog is an excellent experi,emtal model of non Hodgking lymphomas in humans, thus understandig this disease in dogs promotes the joint evolution of human medicine.
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Animales , Perros , Vejiga Urinaria/anomalías , Inmunohistoquímica/veterinaria , Linfoma de Células B Grandes Difuso/veterinaria , Perros/anomalías , Quimioterapia/veterinaria , Extensión Extranodal/diagnósticoRESUMEN
The presence of fetal megacystis in a renal ultrasound may suggest a mechanical or functional bladder outlet obstruction, an uncommon condition with a poor outcome. OBJECTIVE: To determine prog nostic factors in fetuses with prenatal diagnosis of megacystis. PATIENTS AND METHOD: Retrospective study carried out between 2003 and 2018 in the Orient Perinatal Reference Center (CERPO), Uni versity of Chile. Prenatal and postnatal data were analyzed, as well as etiology, pulmonary hypoplasia, medical and surgical treatment, mortality, renal function, and need for renal replacement therapy. The primary variable analyzed was survival at one year, and the secondary ones were renal function and predictors of survival. Statistical analysis was performed using the Mann-Whitney U tests or Fisher test, and a p < 0.05 was considered statistically significant. RESULTS: Twenty-five fetuses with prenatal diagnosis of megacystis were included. 52% of them presented oligohydramnios and 84% showed renal anomalies. Vesicocentesis was performed in 15 fetuses and vesicoamniotic shunt was performed in 5 cases. There were 6 intrauterine fetal deaths (24%) and, among the 19 live births, 9 died soon after birth (36%) and 1 died in the post-neonatal period due to a non-nephron-urological cause. Nine newborns survived by one year of age (36%), seven of them with associated nephron- urological anomaly, and two were healthy patients. Two patients developed chronic kidney disease. The presence of pulmonary hypoplasia was the only factor associated with increased perinatal mor tality (p<0.05) secondary to oligohydramnios in all cases. Oligohydramnios was not identified as a prognostic factor in this study. CONCLUSIONS: The prenatal diagnosis of megacystis comprises a wide spectrum of pathologies including conditions with a high perinatal mortality rate to healthy fetuses with transient enlarged bladder without nephron-urological pathology. The only factor associated with increased perinatal mortality was pulmonary hypoplasia.
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Oligohidramnios , Muerte Perinatal , Anomalías Urogenitales , Duodeno/anomalías , Femenino , Enfermedades Fetales , Feto , Humanos , Recién Nacido , Masculino , Oligohidramnios/diagnóstico por imagen , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Vejiga Urinaria/anomalíasRESUMEN
OBJECTIVE: To describe 5 cases with complete urinary bladder duplication, their associated conditions, and their respective treatment. Urinary bladder duplication is an extremely rare congenital anomaly of the urinary system. So far about 70 cases have been published in the English literature, most of them as case reports and a few case series. METHODS AND RESULTS: All consecutive patients with bladder duplication treated at our institution between 2000 and 2015 were included. Patient records were retrospectively analyzed, and 5 patients with urinary bladder duplication were identified (see Summary Figure). Two patients were male. All duplications were recognized by health care providers. In 1 case recognition was prenatal (MRI in utero at 22 weeks of gestation), the latest recognition was at 12 months of age. A voiding cystourethrography was performed in 4 patients to confirm the diagnosis. In 4 patients the bladder duplication could be classified according to Abrahamson with 3 complete reduplications and one complete sagittal septum. All patients suffered from associated congenital diseases, but only one patient had urinary tract infections. Surgical treatment was only performed in one patient. Median follow-up was 34 months. DISCUSSION: Urinary bladder duplications reflect extremely seldom disorders that are almost always associated with other congenital anomalies. Treatment depends on patients' symptoms and associated conditions and hence needs to be individualized to each patient.
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Vejiga Urinaria/anomalías , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/terapia , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios RetrospectivosRESUMEN
Estenose de Junção Ureteropélvica (JUP) é uma doença caracterizada pelo bloqueio do fluxo de urina da pelve renal (porção proximal do ureter no rim) ao ureter, tubo que liga o rim à bexiga. Essa formação congênita é uma das maiores causas de dilatação do rim (hidronefrose) em recém-nascidos e, em alguns casos, pode causar danos mais severos ao órgão. A hidronefrose causada pela estenose de JUP pode desaparecer espontaneamente sem perda da função renal, entretanto, é preciso um acompanhamento clínico. Por outro lado, em casos mais severos, onde a dilatação pode causar danos maiores ao rim, um tratamento cirúrgico se faz necessário. Embora existam métodos para o diagnóstico da estenose de JUP, como ultrassonografia, tomografia computadorizada, ressonância e cintilografia, é um grande desafio diferenciar os pacientes que requerem um tratamento cirúrgico e os que necessitam apenas de um acompanhamento convencional. A metabolômica global, que investiga de modo comparativo o conjunto de metabólitos de baixa massa molecular expressos em indivíduos em condições pré-selecionadas, tem o potencial de servir como ferramenta diagnóstica para os pacientes com estenose de JUP e, consequentemente, auxiliar na tomada de decisão entre um acompanhamento clínico ou tratamento cirúrgico. Assim sendo, no presente trabalho, três grupos de pacientes com estenose de JUP, pré-diagnosticados por métodos convencionais, foram investigados sob a perspectiva da metabolômica global, por meio de análises de urina, utilizando cromatografia gasosa e cromatografia líquida, ambas acoplada à espectrometria de massas (GC-MS e RPLC10 MS, respectivamente): pacientes que requerem tratamento cirúrgico (CIR), pacientes que requerem acompanhamento clínico (CLI), e indivíduos sãos (CON). Os resultados mostram que é possível encontrar metabólitos discriminantes entre todas as comparações (CON x CLI, CON x CIR e CLI x CIR); os metabólitos encontrados nas análises multivariada e univariada foram utilizados para construção da curva ROC, para confirmar a possibilidade de utilização desses compostos como biomarcadores. Foram observadas alterações em rotas metabólicas importantes para o bom funcionamento das funções renais, principalmente entre a comparação mais desafiadora (CLI x CIR), como o metabolismo da fenilalanina, da tirosina, da beta-alanina, dos aminoaçúcares e dos nucleotídeos. Há indícios de que o ciclo de Krebs também sofre alteração. Os resultados obtidos podem servir como ponto de partida para uma futura análise alvo e validação biológica
Ureteropelvic junction (UPJ) stenosis is a disease characterized by the interruption of the flow of urine from the renal pelvis (proximal part of ureter in the kidney) to the ureter, tube that links the kidney to bladder. That congenital formation is one of the main causes of kidney dilation (hydronephrosis) in newborns and, sometimes, can cause more serious damage to the organ. The hydronephrosis caused by UPJ stenosis can disappear spontaneously without compromising renal function, although a clinical follow-up is required. On the other hand, in more serious cases, when dilation can induce larger damage to the kidney, surgery intervention is necessary. Although there are methods to diagnose UPJ stenosis, such as ultrasound, computed tomography, resonance and scintigraphy, it is still a great challenge to distinguish patients that require surgery from those whose a clinical follow-up suffices. Global metabolomics, a method that investigates in a comparative manner the set of low molecular mass metabolites expressed by an individual in pre-selected conditions, has the potential to function as a diagnostic tool for patients with UPJ stenosis to support decisions about patient treatment, i.e., surgery versus clinical follow-up. In this work, three groups of UPJ stenosis patients were investigated with the aid of global metabolomics using urine analysis by gas chromatography and liquid chromatography coupled to mass spectrometry (GC-MS and RPLC-MS, respectively): one group consisted of UPJ stenosis patients requiring clinical follow-up (CLI), other group UPJ stenosis patients requiring surgery intervention (CIR) and a third group comprising healthy individuals, the control group (CON).12 The results show that it was possible to find discriminant metabolites among all pairwise comparisons (CON versus CLI, CON versus CIR and CLI versus CIR). The metabolites found by multivariate and univariate analyses were used to build ROC curves, to confirm whether it is possible to use them as biomarkers. Alterations in metabolic pathways that are important for the good maintenance of kidney functions were found, especially in the most challenged comparison (CLI versus CIR), such as the metabolism of phenylalanine, tyrosine, beta-alanine, amino acids and nucleotides. There are evidences that Krebs cycle was also impacted. The results obtained here can serve as a starting point to future targeted analysis and biological validation
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Humanos , Masculino , Femenino , Niño , Niño , Constricción Patológica/patología , Metabolómica/clasificación , Fenilalanina/agonistas , Espectrometría de Masas/métodos , Vejiga Urinaria/anomalías , Biomarcadores/química , Tomografía Computarizada por Rayos X/instrumentación , Cromatografía de Gases/métodos , Cromatografía Liquida/métodosAsunto(s)
Divertículo/cirugía , Procedimientos Quirúrgicos Robotizados/métodos , Vejiga Urinaria/anomalías , Humanos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Tempo Operativo , Imagen Óptica/instrumentación , Reproducibilidad de los Resultados , Resultado del Tratamiento , Vejiga Urinaria/cirugíaRESUMEN
This case report describes the clinical findings of a 22-year-old pregnant woman with confirmed Zika virus infection, at 16 weeks of gestation, in Sucre, Colombia. Her ultrasound revealed severe oligohydramnios, intrauterine growth restriction, and a complete absence of the urinary bladder of the fetus. The poor prognosis led to the decision to terminate the pregnancy. Autopsy of the fetus revealed severe bilateral renal hypoplasia.
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Retardo del Crecimiento Fetal/virología , Riñón/anomalías , Complicaciones Infecciosas del Embarazo/virología , Vejiga Urinaria/anomalías , Infección por el Virus Zika/virología , Adulto , Colombia , Femenino , Retardo del Crecimiento Fetal/diagnóstico , Humanos , Riñón/virología , Embarazo , Vejiga Urinaria/virología , Adulto Joven , Virus Zika/fisiologíaRESUMEN
ABSTRACT Introduction: The urinary bladder diverticula (BD) secondary to benign prostatic hyperplasia (BPH) is a complication that can lead to urinary stasis, stone, urinary tract infection (UTI) and tumors. It's role in acute urinary retention (AUR) is not totally understood. Objectives: To determine the effect of BD size on AUR rates in patients with BPH candidates to surgery. Subjects and Methods: We performed a retrospective cohort study of 47 patients with BPH and BD who underwent BPH surgery associated to complete bladder diverticulectomy from 2006 to 2016. We analyzed risk factors for AUR in patients with BD using univariate, multivariate and correlation analysis. Results: There was a difference in the size of the diverticula, with 6.8 cm vs. 4.5 cm among patients with and without AUR respectively (p=0.005). The ROC curve showed a correlation between the size of BD and the risk of AUR. The value of 5.15 cm presented a sensitivity of 73% and a specificity of 72%. The area under the curve was 0.75 (p=0.01). Comparing groups with BD >5.0 cm vs. ≤5.0 cm, the AUR incidence was 74% and 27.8% respectively with an OR of 2.65 (1.20-5.85) (p=0.005). In the multivariate analysis, only the size of the diverticula reached statistical significance (p=0.012). Conclusions: The diameter of BD is an independent risk factor for AUR in patients with BPH and BD who are candidates to surgery. A diameter greater than 5.15 cm increases the risk of AUR.
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Humanos , Masculino , Anciano , Hiperplasia Prostática/cirugía , Hiperplasia Prostática/complicaciones , Vejiga Urinaria/anomalías , Retención Urinaria/etiología , Divertículo/complicaciones , Divertículo/patología , Valores de Referencia , Vejiga Urinaria/patología , Vejiga Urinaria/diagnóstico por imagen , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Enfermedad Aguda , Estudios Retrospectivos , Factores de Riesgo , Curva ROC , Divertículo/diagnóstico por imagen , Medición de Riesgo , Persona de Mediana EdadRESUMEN
INTRODUCTION: The urinary bladder diverticula (BD) secondary to benign prostatic hyperplasia (BPH) is a complication that can lead to urinary stasis, stone, urinary tract infection (UTI) and tumors. It's role in acute urinary retention (AUR) is not totally understood. OBJECTIVES: To determine the effect of BD size on AUR rates in patients with BPH candidates to surgery. SUBJECTS AND METHODS: We performed a retrospective cohort study of 47 patients with BPH and BD who underwent BPH surgery associated to complete bladder diverticulectomy from 2006 to 2016. We analyzed risk factors for AUR in patients with BD using univariate, multivariate and correlation analysis. RESULTS: There was a difference in the size of the diverticula, with 6.8 cm vs. 4.5 cm among patients with and without AUR respectively (p=0.005). The ROC curve showed a correlation between the size of BD and the risk of AUR. The value of 5.15 cm presented a sensitivity of 73% and a specificity of 72%. The area under the curve was 0.75 (p=0.01). Comparing groups with BD >5.0 cm vs. ≤5.0 cm, the AUR incidence was 74% and 27.8% respectively with an OR of 2.65 (1.20-5.85) (p=0.005). In the multivariate analysis, only the size of the diverticula reached statistical significance (p=0.012). CONCLUSIONS: The diameter of BD is an independent risk factor for AUR in patients with BPH and BD who are candidates to surgery. A diameter greater than 5.15 cm increases the risk of AUR.
Asunto(s)
Divertículo/complicaciones , Divertículo/patología , Hiperplasia Prostática/complicaciones , Hiperplasia Prostática/cirugía , Vejiga Urinaria/anomalías , Retención Urinaria/etiología , Enfermedad Aguda , Anciano , Divertículo/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Curva ROC , Valores de Referencia , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Vejiga Urinaria/diagnóstico por imagen , Vejiga Urinaria/patologíaRESUMEN
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disease characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease. In the present article, we described a family with two affected siblings with MMIHS born to consanguineous parents and the molecular investigation performed to define the genetic etiology. Previous whole exome sequencing of the affected child and parents did not identify a candidate gene for the disease in this family, but now we present a reanalysis of the data that led to the identification of a homozygous deletion encompassing the last exon of MYL9 (myosin regulatory light chain 9) in the affected individual. MYL9 gene encodes a regulatory myosin MLC and the phosphorylation of this protein is a crucial step in the contraction process of smooth muscle cell. Despite the absence of human or animal phenotype related to MYL9, a cause-effect relationship between MYL9 and the MMIHS seems biologically plausible. The present study reveals a strong candidate gene for autosomal recessive forms of MMIHS, expanding the molecular basis of this disease and reinforces the myopathic basis of this condition.
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Anomalías Múltiples/genética , Colon/anomalías , Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Seudoobstrucción Intestinal/genética , Cadenas Ligeras de Miosina/genética , Vejiga Urinaria/anomalías , Anomalías Múltiples/fisiopatología , Autoantígenos/genética , Proteínas de Unión al Calcio/genética , Colon/fisiopatología , Consanguinidad , Proteínas del Citoesqueleto/genética , Femenino , Heterocigoto , Homocigoto , Humanos , Lactante , Seudoobstrucción Intestinal/fisiopatología , Masculino , Quinasa de Cadena Ligera de Miosina/genética , Linaje , Fenotipo , Eliminación de Secuencia , Hermanos , Vejiga Urinaria/fisiopatologíaRESUMEN
Bladder malignancy in patients with congenital bladder anomalies who have undergone bladder augmentation is a rare but well-recognized condition. These patients present with locally advanced or metastatic disease and have poor survival. We report a case of a patient with myelomeningocele who was incidentally found to have a high-grade intestinal type adenocarcinoma of her bladder augment at the time of cystolithotomy. This case highlights the need to continue to follow patients with congenital bladder anomalies and highlights the lack of adequate screening methods available.
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Adenocarcinoma/cirugía , Litotricia/métodos , Meningomielocele/cirugía , Cálculos de la Vejiga Urinaria/cirugía , Neoplasias de la Vejiga Urinaria/diagnóstico , Anomalías Urogenitales/cirugía , Adenocarcinoma/diagnóstico , Adulto , Femenino , Estudios de Seguimiento , Humanos , Hallazgos Incidentales , Cuidados Intraoperatorios/métodos , Meningomielocele/complicaciones , Meningomielocele/diagnóstico , Monitoreo Intraoperatorio/métodos , Medición de Riesgo , Resultado del Tratamiento , Vejiga Urinaria/anomalías , Vejiga Urinaria/cirugía , Cálculos de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/cirugía , Anomalías Urogenitales/diagnósticoRESUMEN
Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (CIPO, MIM609629), and multisystemic smooth muscle dysfunction syndrome (MSMDS, MIM613834). The genetic bases of these conditions recently begun to be clarified with the identification of pathogenic variants in ACTG2, ACTA2, and MYH11 in individuals with visceral motility dysfunction. The MMIHS was associated with the heterozygous variant in ACTG2 and homozygous variant in MYH11, while the heterozygous variant in ACTA2 was observed in patients with MSMDS. In this study, we describe the clinical data as well as the molecular investigation of seven individuals with visceral myopathy phenotypes. Five patients presented with MMIHS, including two siblings from consanguineous parents, one had CIPO, and the other had MSMDS. In three individuals with MMIHS and in one with CIPO we identified heterozygous variant in ACTG2, one being a novel variant (c.584C>T-p.Thr195Ile). In the individual with MSMDS we identified a heterozygous variant in ACTA2. We performed the whole-exome sequencing in one sibling with MMIHS and her parents; however, the pathogenic variant responsible for her phenotype could not be identified. These results reinforce the clinical and genetic heterogeneity of the visceral myopathies. Although many cases of MMIHS are associated with ACTG2 variants, we suggest that other genes, besides MYH11, could cause the MMIHS with autosomal recessive pattern. © 2016 Wiley Periodicals, Inc.