Analysis of the Predictive Capacity of the Clinical Variables That Indicate the Performance of Voiding Urosonography in the Study of Vesicoureteral Reflux in Children.

INTRODUCTION: Voiding urosonography (VUS) is a dynamic imaging technique which evaluates the lower urinary tract by introducing sonographic contrast into the bladder, preferably used in the diagnosis of vesicoureteral reflux (VUR). Our goals were to describe the clinical indications for performing a VUS for VUR's diagnosis and analyse its diagnostic reliability. MATERIAL AND METHODS: Cross-sectional study carried on patients under 15 years old with a VUS taken between November 2013-2020. Sex, age, indications (lower urinary tract infection-LUTI; dilatated lower urinary tract-DLUT; duplex collecting system-DCS), results (presence/absence of VUR, score and side) and complications were analysed. U Mann-Whitney and Chi-squared tests were used and 2 predictive capacity models for the indications used to detect VUR were employed (logistic binomial regression and multilayer perceptron neural network). Statistical significance p < 0.05. RESULTS: 415 VUS were completed correctly (male 51.8%, median age 7.3 (3.1-15.3) months). Indications were: LUTI (67.5%), DLUT (33.5%) and DCS (10.2%); presenting 1, 2 and 3 indications in 86.5%, 12.8% and 0.7% respectively. VUR was diagnosed in 34.7% cases. A tendency towards statistically significance was showed related to male sex (p = 0.052) and the only significative clinical indication for VUR was DCS (p = 0.007). Patients with 2 simultaneous indications had higher probability of VUR (p = 0.012). DCS presence or male sex were the only predictive variables of VUR: DCS = OR 1.89 (1.54-6.52) (p = 0.006) and male sex = OR 1.56 (1.03-2.35) (p = 0.035). CONCLUSIONS: VUS is a thriving technique, radiation free and with a low complications rate. Presence of DCS, male sex or 2 simultaneous indications for VUS increase the probability of presenting VUR.

Analysis of the Predictive Capacity of the Clinical Variables That Indicate the Performance of Voiding Urosonography in the Study of Vesicoureteral Reflux in Children

Introduction: Voiding urosonography (VUS) is a dynamic imaging technique which evaluates the lower urinary tract by introducing sonographic contrast into the bladder, preferably used in the diagnosis of vesicoureteral reflux (VUR). Our goals were to describe the clinical indications for performing a VUS for VUR’s diagnosis and analyse its diagnostic reliability. Material and Methods: Cross-sectional study carried on patients under 15 years old with a VUS taken between November 2013-2020. Sex, age, indications (lower urinary tract infection—LUTI; dilatated lower urinary tract—DLUT; duplex collecting system—DCS), results (presence/absence of VUR, score and side) and complications were analysed. U Mann-Whitney and Chi-squared tests were used and 2 predictive capacity models for the indications used to detect VUR were employed (logistic binomial regression and multilayer perceptron neural network). Statistical significance p < 0.05. Results: 415 VUS were completed correctly (male 51.8%, median age 7.3 (3.1-15.3) months). Indications were: LUTI (67.5%), DLUT (33.5%) and DCS (10.2%); presenting 1, 2 and 3 indications in 86.5%, 12.8% and 0.7% respectively. VUR was diagnosed in 34.7% cases. A tendency towards statistically significance was showed related to male sex (p = 0.052) and the only significative clinical indication for VUR was DCS (p = 0.007). Patients with 2 simultaneous indications had higher probability of VUR (p = 0.012). DCS presence or male sex were the only predictive variables of VUR: DCS = OR 1.89 (1.54-6.52) (p = 0.006) and male sex = OR 1.56 (1.03-2.35) (p = 0.035). Conclusions: VUS is a thriving technique, radiation free and with a low complications rate. Presence of DCS, male sex or 2 simultaneous indications for VUS increase the probability of presenting VUR (AU)

X-linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment.

X-linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.

Enuresis: clinical evolution of patients attended at specialized unit of paediatric urology.

OBJECTIVE: To analyse the clinical evolution, the therapeutic strategies and the characteristics of the patients presenting enuresis attended at our outpatient clinic. MATERIAL AND METHODS: Retrospective study of patients <14 years old(yo) diagnosed of enuresis attended at our outpatient clinic (2011-2019) and completed their follow-up (remission or aged 15). Urotherapy was offered to all patients as initial management. The therapeutic strategies were classified as: first line (desmopressin or clock alarm), second line (desmo-pressin+alarm) and third line(anticholinergics). The remission rate during follow-up, the number of consultations needed until remission and the treatments used were calculated. Statistical tests used:Kaplan-Meier, actuarial survival. Multivariate analysis:Cox regression.Statistical significance:p<0.05. RESULTS: Data were collected from 125 patients (mean age: 8.6±2.45yo). Family history of enuresis was present in 38.9%. The mean follow-up was 2.37±1.55yo and the average number of consultations was 7.54±5.06. The remission rate (RE) was 84%(n=105), with a median remission interval:2.66 years (2.34-2.991[95%CI]). The average number of treatments required for remission was 2.74±1.27. RE with urotherapy alone was 20%(n=25); RE with first line:19.3%(n=17) and second line:16.7(n=11). In the remaining patients, a RE of 78.18%(n=43) was achieved by adding an anticholinergic. Patients aged > 8.7 years at the beginning of the follow-up required less time to achieve remission (p=.025). These patients had a higher RE (hazard ratio 1.15 (1.05-1.25))(p=.004). No other variables were significant. CONCLUSION: Staged therapeutic strategies are necessary to achieve remission. Only 25% remitted with urotherapy as single treatment. RE are higher when patients are >8.7 yo once they initiate their follow up.

Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by abnormal susceptibility to infection with b-genotype human papillomavirus (HPV) and a particular propensity to develop cutaneous malignancies. Clinical manifestations include flat, scaly, reddish hypo- and hyperpigmented macules, verruca-like papillomatous lesions, seborrheic keratosis- like lesions, and pink-red pityriasis versicolor-like lesions1.

[Impact of COVID-19 during de-escalation in pediatric urology.] / El impacto del COVID-19 en la epoca de transición o "desescalada" en la urología pediátrica.

Medical and surgical priorities have changed dramatically following the COVID-19 pandemic declaration. The rapid spread of the virus and the high number of cases has saturated the health system in our country and has forced many hospitals to redistribute resources to care for infected patients. This has led to asignificant reduction in surgical activity, in some cases reaching the point of delaying all elective interventions by performing only urgent interventions. The decrease in the number of infections with the progressive desaturation of hospitals has currently allowed us to enter a new phase of "de-escalation" or transition in order to recover our surgical activity in pediatric urology, which was practically canceled. It is proposed how surgical care activities such as outpatient care should be deal twith, in addition to the different circuits that patients must maintain and, above all, their and professional safety.

Las prioridades médicas y quirúrgicas han cambiado drásticamente tras la declaración de pandemia de COVID-19. La rápida propagación del virus y el elevado número de casos ha saturado el sistema sanitario de nuestro país y obligado a muchos hospitales a redistribuir sus recursos para atender a los pacientes infectados. Esto ha llevado a una reducción significativa de la actividad quirúrgica llegando al extremo de demorar todas las intervenciones electivas, realizándose únicamente las intervenciones urgentes. La disminución del número de contagios con la progresiva desaturación de los hospitales nos ha permitido en la actualidad entrar en una nueva fase de "desescalada" o de transición para poder recuperar nuestra actividad quirúrgica dentro de la urología pediátrica que fue prácticamente cancelada. Se propone cómo se debe afrontar la actividad asistencial quirúrgica así como la actividad de consultas externas, además de establecer los distintos circuitos que deben mantener los pacientes para su seguridad y la de los profesionales que los atienden.

El impacto del COVID-19 en la epoca de transición o "desescalada" en la urología pediátrica / Impact of COVID-19 during de-escalation in pediatric urology

Las prioridades médicas y quirúrgicas han cambiado drásticamente tras la declaración de pandemia de COVID-19. La rápida propagación del virus y el elevado número de casos ha saturado el sistema sanitario de nuestro país y obligado a muchos hospitales a redistribuir sus recursos para atender a los pacientes infectados. Esto ha llevado a una reducción significativa de la actividad quirúrgica llegando al extremo de demorar todas las intervenciones electivas, realizándose únicamente las intervenciones urgentes. La disminución del número de contagios con la progresiva desaturación de los hospitales nos ha permitido en la actualidad entrar en una nueva fase de "desescalada" o de transición para poder recuperar nuestra actividad quirúrgica dentro de la urología pediátrica que fue prácticamente cancelada. Se propone cómo se debe afrontar la actividad asistencial quirúrgica así como la actividad de consultas externas, además de establecer los distintos circuitos que deben mantener los pacientes para su seguridad y la de los profesionales que los atienden

Medical and surgical priorities have changed dramatically following the COVID-19 pandemic declaration. The rapid spread of the virus and the high number of cases has saturated the health system in our country and has forced many hospitals to redistribute resources to care for infected patients. This has led to a significant reduction in surgical activity, in some cases reaching the point of delaying all elective interventions by performing only urgent interventions. The decrease in the number of infections with the progressive desaturation of hospitals has currently allowed us to enter a new phase of "de-escalation" or transition in order to recover our surgical activity in pediatric urology, which was practically canceled. It is proposed how surgical care activities such as outpatient care should be dealt with, in addition to the different circuits that patients must maintain and, above all, their and professional safety

Testicular tumours in children: an approach to diagnosis and management with pathologic correlation.

Testicular tumours are rare in children. Painless scrotal mass is the most frequent clinical presentation. Tumoural markers (alpha-fetoprotein, beta-human gonadotropin chorionic) and hormone levels (testosterone) contribute to the diagnosis and management of a testicular mass in boys. Ultrasonography is the best imaging modality to study testicular tumours. A benign tumour is suggested when ultrasonography shows a mainly cystic component, well-defined borders, echogenic rim or normal to increased echogenicity lesion when compared to the healthy testicular parenchyma. Malignant tumour is suspected when ultrasonography shows inhomogeneous, hypoechoic, not well-circumscribed or diffuse infiltration lesion. However, these ultrasonographic findings may overlap. Colour Doppler, power Doppler, elastography and contrast-enhanced ultrasonography are useful complementary methods to characterise the focal testicular lesions. Chest computerised tomography and abdominopelvic magnetic resonance are necessary to establish the extension in case of malignant proved tumours.Benign tumours are more frequent in prepuberal boys and malignant tumours in pubertal boys. Mature teratoma prepubertal-type is the most common histologic type. Testicular sparing surgery is the choice in benign tumours. Radical inguinal orchiectomy is indicated in malignant tumours. Prognostic is excellent.The purpose of our study is to show an approach to the diagnosis and management of the most frequent testicular tumours in children according to clinical manifestations, imaging findings and tumour markers levels based on histologically confirmed tumours in our hospital.

Eighteen years of experience with pediatric nutcracker syndrome: the importance of the conservative approach.

INTRODUCTION: Nutcracker syndrome (NS) defines an entity generated by the compression of the left renal vein resulting in venous hypertension, which transmitted in a retrograde direction may cause hematuria, proteinuria, and varicocele. The literature concerning exclusively pediatric patients is very rare. OBJECTIVE: To report the authors' experience with pediatric NS in the last 18 years. STUDY DESIGN: This is a retrospective review of the patients followed up in the authors' center with diagnosis of NS based on clinical and imaging tests (ultrasound, computed tomography/magnetic resonance imaging, and phlebography). The primary outcome was the success of the conservative approach in the study patients. RESULTS AND DISCUSSION: A total of 21 patients were diagnosed with NS and followed up for a mean period of 52.3 months (37.1-67.5). The mean age at diagnosis was 11.7 years (9.9-13.4). The most frequent symptom of presentation was hematuria in 16 patients (76.2%), being macroscopic in 75% patients and related to physical exercise in 42.9% patients. Other symptoms were left varicocele in 7 patients (33%) and proteinuria in 6 patients (28.6%). Mild to moderate cases received conservative treatment (change of physical activity, postural hygiene), which achieved resolution of symptoms in 16 patients (76.2%). Five cases (23.8%) finally needed a more aggressive approach. Two (9.5%) of them required endovascular procedures (intravascular stent in the renal vein in 1 case and embolization of the spermatic vein in 1 case); in one (4.8%) of the patients, transposition of the left renal vein and kidney autotransplantation were performed, and 2 (9.5%) of the patients with mild cases required surgical correction of the varicocele. CONCLUSIONS: Hematuria, usually macroscopic and related to physical exercise, is the most frequent symptom in pediatric patients with NS. The authors advocate studying the aortomesenteric junction by abdominal ultrasound in patients with varicocele or with intermittent macroscopic hematuria. Diagnosis is based on non-invasive tests; phlebography should be reserved for severe cases that require an interventionist attitude. A long period of conservative treatment is the first approach for pediatric patients with NS.

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

BACKGROUND: Retinal dystrophies (RDs) are one of the most genetically heterogeneous monogenic disorders with ~270 associated loci identified by early 2019. The recent application of next-generation sequencing (NGS) has greatly improved the molecular diagnosis of RD patients. Genetic characterization of RD cohorts from different ethnic groups is justified, as it would improve the knowledge of molecular basis of the disease. Here, we present the results of genetic analysis in a large cohort of 143 unrelated Mexican subjects with a variety of RDs. METHODS: A targeted NGS approach covering 199 RD genes was employed for molecular screening of 143 unrelated patients. In addition to probands, 258 relatives were genotyped by Sanger sequencing for familial segregation of pathogenic variants. RESULTS: A solving rate of 66% (95/143) was achieved, with evidence of extensive loci (44 genes) and allelic (110 pathogenic variants) heterogeneity. Forty-eight percent of the identified pathogenic variants were novel while ABCA4, CRB1, USH2A, and RPE65 carried the greatest number of alterations. Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD. Familial segregation of causal variants allowed the recognition of 124 autosomal or X-linked carriers. CONCLUSION: Our results illustrate the utility of NGS for genetic diagnosis of RDs of different populations for a better knowledge of the mutational landscape associated with the disease.

Pediatric renal adenocarcinoma: a review of our series.

OBJECTIVES: To report our experience with pediatric renal adenocarcinoma. METHODS: We conducted a retrospective review of renal adenocarcinoma cases from 1971 to 2006. RESULTS: We treated 154 patients with renal tumor, 4 (2.6%) of whom had adenocarcinoma. The mean age of presentation was 8.5 years (range, 2-15 years). Three patients were female and 1 was male. The most common histologic subtype was clear cell carcinoma. Three patients were diagnosed as stage IIIB and one as stage II, according to Robson's classification. All patients were treated with radical nephroureterectomy. One patient died of disease and the other 3 are currently disease-free. CONCLUSIONS: Adenocarcinoma is an uncommon histopathologic type of pediatric renal tumor. In patients with hematuria and abdominal or flank pain, we should consider this tumor as a possible diagnosis.

Renal transplantation in children with posterior urethral valves.

The objective of this study was to analyze whether renal transplantation (RT) in children with posterior urethral valves (PUV) constitutes a special group with respect to groups with different etiologies of end-stage renal disease (ESRD). Between 1979 and 2004, 22 RT were performed in 19 children with PUV. The median age at RT was 10 years (range: 1.3-17). Immunosuppression was provided by triple therapy and polyclonal/monoclonal antibodies. This group was compared with the two control groups: (1) glomerulopathy (n=62) and (2) pyelonephritis/dysplasia (n=42) without lower urinary tract disease, transplanted in the same period. Ten graft losses occurred in 22 transplants: thrombosis (2), acute rejection (3), chronic graft nephropathy (2), and death of patients (3) with a functioning graft in the 1st postoperative month. We did not find significant differences versus the control group in renal function or probability of graft or patient survival at 1, 5, and 10 years. We observed a greater risk of urological complication in patients with PUV. RT with PUV constitutes a special group due to the compulsory young age and the need for careful and complex medicosurgical management; nevertheless, the results achieved were similar to those obtained in our general RT population.