Ewing-like sarcoma bladder primary tumour: A case report and literature review.

Bladder primitive neuroectodermal tumors are extremely rare but are most frequent in older adult. 59-year-old man that complained of hematuria for the previous 24 h, urethral syndrome, and pain in the right renal fossa over the previous two weeks. No definitive management or treatment guidelines have been established. Hematuria is the most frequent symptom. Advanced age, metastasis, and incomplete tumor resection are determinants of a poor prognosis. Ewing-like bladder primary tumor is a rare entity with a poor prognosis, hence an aggressive treatment combining surgery and chemotherapy must be considered from the beginning.

Priapismo de alto flujo en población pediátrica: serie de casos y revisión de la literatura / High-flow Priapism in Pediatric Population: Case Series and Review of the Literature

Introducción: El priapismo consiste en una erección mantenida durante más de cuatro horas. Es una patología infrecuente en la población pediátrica, estimada en 0,3 a 1,5 por cada 100.000 niños al año. La secuencia diagnóstica incluye anamnesis, exploración física y ecografía doppler peneana (EcoDP). No siempre es necesaria la punción de cuerpos cavernosos para establecer el diagnóstico diferencial entre priapismo de alto y bajo flujo. El tratamiento de elección en la edad pediátrica no está bien definido.Material y métodosEstudio multicéntrico, retrospectivo, descriptivo de pacientes menores de 14 años con priapismo de alto flujo, entre los años 2010 y 2020. Revisión de la literatura.ResultadosUn total de siete pacientes fueron diagnosticados de priapismo de alto flujo. Ninguno requirió punción de cuerpos cavernosos. Se realizó un manejo conservador en todos ellos, dos pacientes necesitaron embolización arterial superselectiva por persistencia de la clínica.ConclusionesEl priapismo de alto flujo es una entidad muy infrecuente en la edad pediátrica por lo que es importante conocer el diagnóstico y manejo adecuados. Actualmente, la ecografía doppler suele ser suficiente para el diagnóstico, obviando el uso de la gasometría. El manejo inicial en niños es conservador, reservando la embolización para los casos refractarios. (AU)

Introduction: Priapism is a prolonged erection that lasts longer than four hours. It is a rare pathology in the pediatric population, with an estimation of 0.3-1.5 per 100,000 children per year. The diagnostic sequence includes clinical history, physical examination and penile Doppler ultrasound (PDUS). Puncture of corpora cavernosa is not always necessary to establish the differential diagnosis between high-flow and low-flow priapism. The treatment of choice in pediatric age is not well defined.Patients and methodsMulticentric, retrospective and descriptive study including patients under 14 years with high-flow priapism between 2010 and 2020. Literature review.ResultsA total of seven patients were diagnosed with high-flow priapism. None of them required puncture of the corpora cavernosa. Patients were treated with a conservative management, two patients required superselective arterial embolization due to persistent symptoms.ConclusionsHigh-flow priapism is a very rare entity in pediatric age; therefore, knowing the proper diagnosis and management is crucial. Currently, penile doppler ultrasound is enough for diagnosis in most cases and allows obviating the use of blood gas analysis. Children should be initially treated with a conservative management, reserving embolization for refractory cases. (AU)

High-flow priapism in pediatric population: Case series and review of the literature.

INTRODUCTION: Priapism is a prolonged erection that lasts longer than four hours. It is a rare pathology in the pediatric population, with an estimation of 0.3-1.5 per 100,000 children per year. The diagnostic sequence includes clinical history, physical examination and penile Doppler ultrasound (PDUS). Puncture of corpora cavernosa is not always necessary to establish the differential diagnosis between high-flow and low-flow priapism. The treatment of choice in pediatric age is not well defined. PATIENTS AND METHODS: Multicentric, retrospective and descriptive study including patients under 14 years with high-flow priapism between 2010 and 2020. RESULTS: A total of seven patients were diagnosed with high-flow priapism. None of them required puncture of the corpora cavernosa. Patients were treated with a conservative management, two patients required superselective arterial embolization due to persistent symptoms. CONCLUSIONS: High-flow priapism is a very rare entity in pediatric age; therefore, knowing the proper diagnosis and management is crucial. Currently, penile doppler ultrasound is enough for diagnosis in most cases and allows obviating the use of blood gas analysis. Children should be initially treated with a conservative management, reserving embolization for refractory cases.

High-flow Priapism in Pediatric Population: Case Series and Review of the Literature. / Priapismo de alto flujo en población pediátrica: serie de casos y revisión de la literatura.

INTRODUCTION: Priapism is a prolonged erection that lasts longer than four hours. It is a rare pathology in the pediatric population, with an estimation of 0.3-1.5 per 100,000 children per year. The diagnostic sequence includes clinical history, physical examination and penile Doppler ultrasound (PDUS). Puncture of corpora cavernosa is not always necessary to establish the differential diagnosis between high-flow and low-flow priapism. The treatment of choice in pediatric age is not well defined. PATIENTS AND METHODS: Multicentric, retrospective and descriptive study including patients under 14 years with high-flow priapism between 2010 and 2020. RESULTS: A total of seven patients were diagnosed with high-flow priapism. None of them required puncture of the corpora cavernosa. Patients were treated with a conservative management, two patients required superselective arterial embolization due to persistent symptoms. CONCLUSIONS: High-flow priapism is a very rare entity in pediatric age; therefore, knowing the proper diagnosis and management is crucial. Currently, penile doppler ultrasound is enough for diagnosis in most cases and allows obviating the use of blood gas analysis. Children should be initially treated with a conservative management, reserving embolization for refractory cases.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I biogenesis has not been studied in patient fibroblasts. So far, a single patient carrying an NDUFA9 variant with a severe neonatally fatal phenotype has been reported. Via exome sequencing, we identified a novel homozygous NDUFA9 missense variant in another patient with a milder phenotype including childhood-onset progressive generalized dystonia and axonal peripheral neuropathy. We performed complex I assembly analysis using primary skin fibroblasts of both patients. Reduced complex I abundance and an accumulation of Q-module subassemblies were present in both patients but more pronounced in the severe clinical phenotype patient. The latter displayed additional accumulation of P-module subassemblies, which was not present in the milder-phenotype patient. Lentiviral complementation of both patient fibroblast cell lines with wild-type NDUFA9 rescued complex I deficiency and the assembly defects. Our report further characterizes the phenotypic spectrum of NDUFA9 deficiency and demonstrates that the severity of the clinical phenotype correlates with the severity of the effects of the different NDUFA9 variants on complex I assembly.