Gunay Ekberli

Ochoa Syndrome Associated with a Novel HPSE2 Deletion: A Case Report - The Journal of Pediatric Research

Objectives: To evaluate the effects of age, body mass index, and treatment duration on treatment response in children with primary monosymptomatic nocturnal enuresis and to determine the contribution of these variables to clinical outcomes. Methods: Data from 560 pediatric patients treated with desmopressin due to primary monosymptomatic nocturnal enuresis were retrospectively analyzed. Patient demographics, body mass index classifications, early treatment response, and dryness rates at 3 and 6 months were evaluated. Categorical variables were analyzed using the chi-square or Fisher’s exact test, and continuous variables were evaluated using Spearman correlation analysis. Significant factors predicting treatment success were investigated using multivariable analyses. Results: Treatment success was significantly higher in younger age groups, with increased early response rates and shorter treatment duration (p < 0.001). Higher body mass index was associated with a delay in early treatment response and the need for longer treatment (p < 0.0001). While the likelihood of treatment success decreased with increasing age, higher body mass index demonstrated a modest positive association with treatment response after multivariable adjustment. Conclusions: The findings indicate that age and body mass index are important determinants of treatment response in pediatric monosymptomatic nocturnal enuresis. These results suggest that treatment strategies should be individualized by considering both age and body mass index.

Aims: The complete removal of the ureter minimises the risk of future morbidity associated with the distal ureteral stump (DUS), including febrile urinary tract infections (UTIs), lower quadrant pain and haematuria – the so-called ureteral stump syndrome (USS). This research evaluated the mid-term outcome of DUS after (hemi)nephroureterectomy ((H)NU).Methods: Between July 2008 and April 2019, 29 patients, with a mean age of 4.7 years, underwent (H)NU for poorly functioning dysplastic, scarred, atrophic or hydronephrotic kidneys. Twenty-two patients received total NU, and seven patients received HNU. In all patients, with or without vesicoureteral reflux (VUR), the ureteral stump was ligated.Results: Heminephroureterectomy was applied to three patients for upper pole moieties (one with an ectopic ureter and two with ureteroceles) and to four patients for lower pole moieties with high-grade VUR. Total NU procedures were performed for nephrolithiasis, ureteropelvic junction obstruction, xanthogranulomatous pyelonephritis, multicystic dysplastic kidneys (MCDKs) and high-grade VUR. Distal ureteral stump resection was required in two patients for USS during the mean 1.5-year follow-up period. Both patients had undergone total NU operations because of high-grade VUR and poorly functioning, dysplastic, scarred kidneys.Conclusion: In this series, USS was seen in only two patients (28.6%) with high-grade VUR in the total NU group. The authors, therefore, believe that high-grade VUR is more important than ureteral stump length and stump ligation for USS development. Therefore, the residual ureter should not be left during NU, especially in cases with VUR.

BACKGROUND Surgery for Hirschsprung’s disease (HD) generally results in a satisfactory outcome, but some patients continue to have bowel dysfunction. There are very few studies in the literature that compare the early and late clinical outcomes. AIM To evaluate changes in anorectal function and clinical outcome with age in patients who underwent Duhamel operation (DO) for HD. METHODS Twenty-eight patients who had previously undergone DO to treat HD were invited to an outpatient clinic upon reaching adulthood to participate in follow-ups. The patients’ clinical data from the early and mid-term follow-ups were evaluated retrospectively based upon the hospital records and datasets from previous studies. The functional outcome tests in adulthood included anorectal manometry, rectoanal inhibitory reflex, maximum anal resting pressure, and a questionnaire. RESULTS Among the patients that reached adulthood and underwent early and mid-term evaluations, only 10 responded to the invitation and attended. That study population was comprised of 8 males and 2 females, ranging in age from 19 years to 25 years, with an average of 21.57 years. The anorectal inhibitory reflex was abnormal in 6 of the patients (66.7%). While the rate of patients who were deemed clinically “good” at the early postoperative evaluation was 53%, that rate reached to 90% in the adult evaluation. CONCLUSION Improvement correlated with age, while other anorectal manometric parameters were unchanged. Long-term adult follow-up is essential for objectively evaluating surgical outcomes and overall success.

Background/Aims: Neuroblastoma (NB) is an embryonal neuroendocrine tumor of the peripheral nervous system. It is the most common extracranial solid tumor of childhood and the most common in the first year of life.It has a variable course ranging from a benign course to a fatal disease Methods: Forty patients under the age of 18 who underwent surgical resection in our center due to neuroblastoma between January 2012 and December 2021 were included in to the study. Demographic data of the patients, preoperative cross-sectional and functional imaging, surgical procedures, surgical complications and pathological staging were analyzed retrospectively. Results: In this retrospective study, 48 patients were analyzed. Of 48 patients 52.5% were male and 47.5% were female. palpable abdominal mass detected in 82.5% of the patients. 0 patients were neuroblastoma, 10 patients were ganglioneuroblastoma, and 8 patients were ganglioneuromas. Eight patients with ganglioneuroma were excluded from the study. Analysis was performed among 40 patients. Conclusions: NB is heterogeneous in clinical behavior. It is treated by the pediatric surgeon with minimal complications, taking into account the stage of the disease, the age of the patient, and risk factors. Since the tumor originates from the sympathetic nervous system and invades surrounding large vessels and surrounding tissues, aggressive chemotherapy and local regional radiotherapy may be required after surgery. It may be possible to avoid serious complications by customizing the surgery.

Objective: With advancements in endourological equipment and the routine use of the Holmium:YAG laser, endoscopic treatment has become the first-line approach for managing ureteral stones in children. Although ureteroscopy is widely performed, the literature reports varying outcomes regarding its efficacy in pediatric cases. This study aimed to evaluate the impact of increasing endourological experience on stone-free rates and procedure-related complications in children undergoing ureteroscopy with Holmium: YAG laser for ureteral stones Material and Methods: A comparative analysis was conducted on 32 cases treated with URS for ureteral stones between 2009-2011, the initial three years of our endourological interventions in children, and 78 cases treated with URS for ureteral stones between 2020-2022, the final three years of our 15-year endourological experience, utilising hospital records as the primary data source. Demographic data, stone-free rates, and recorded complications were evaluated in both groups. Results: In our initial cohort of 32 cases, the stone-free rate at first attempt was 57%, with a complication rate of 15.6% and a conversion rate to open surgery of 18.75%. In contrast, during the last three years, 73 patients (93.5%) achieved stone-free status with a single URS session. Only one case (1.3%) required conversion to open surgery. Complications were observed in 10.2% of cases. Notably, the use of passive dilation with preoperative JJ stent placement became more prevalent during the latter period. Conclusion: Increasing surgical experience is associated with higher stone-free rates following a single intervention. There were no significant differences in the overall or major complication rates between the two periods. Postoperative fever remains a common complication, underscoring the importance of careful management of JJ stent placement. The most notable parameter that showed a significant improvement with increased experience was the reduced rate of conversion to open surgery.

Background and Objectives: Penile tissue loss, which can be an acquired condition due to trauma or infection, but is also seen in congenital anomalies, is a rare condition in children. A standard surgical approach is often not possible due to the different degrees and etiologies of penile tissue loss. The continuing growth and the presence of various congenital anomalies in children require a different penile reconstruction approach than in adults. We aimed to share our experience and surgical results with children in whom we performed penile reconstruction with different techniques due to penile tissue loss. Materials and Methods: Ten cases that underwent penile reconstruction between 2018 and 2023 were evaluated retrospectively. Age at initial operation, associated anomalies, surgical technique, and other related surgical attempts, as well as functional and cosmetic results, were recorded. Results: Ten boys aged between 6 months and 17 years underwent phalloplasty due to penile tissue absence. In six cases, penile tissue loss was due to acquired causes, and in four cases, congenital anomalies were the reason. The most common cause of penile tissue loss was circumcision complications. In four cases, penile reconstruction was achieved by mobilization of the remaining corpus cavernosum tissues, in two cases, the cavernous tissue was adequate and repaired with glansplasty and penile skin graft. Phalloplasty was performed by tubularization of a skin and subcutaneous fat flap, removed from the pubic region and scrotal region, in two cases. A microvascular radial forearm flap was performed in a 17-year-old patient with penile tissue loss because of trauma, and a free skin flap taken from the forearm was used for penile reconstruction. Thirty percent of patients required a second surgery. Urinary continence was present in eight of the cases. Although four cases were classified as cosmetically unsatisfactory in our evaluation, all patients and their families reported being satisfied with the cosmetic results. Conclusions: Penile reconstruction for penile tissue loss in children should be performed in clinics where different scenarios can be applied. With maximum preservation and mobilization of existing cavernous tissues, temporary penile reconstruction with local flaps should be performed in young children at an early stage to minimize the psychological effects of penile absence. Although an esthetically perfect result cannot be guaranteed, patients and families are generally satisfied with the outcome.

Ventral curvature (VC), and penile straightening is a key step in severe proximal hypospadias surgery. One of the most important variables in selecting the appropriate technique for primary severe hypospadias repair seems to be the urethral plate transection to achieve penile straightening. In some cases, cutting the urethral plate is not sufficient and VC is corrected with ventral corporotomies. In the presented study, it was aimed to evaluate the early results of patients who underwent urethral plate transsection (UPT). Thirty-two cases with severe proximal hypospadias who underwent chordee correction by transsection of the urethral plate between 2019 and 2022 years were evaluated retrospectively. The patients’ ages varied between 8 months and 16 years, with a mean age of 4.61 ± 4.10 years. Ventral curvature was below 90 degrees in 6 patients and above 90 degrees in 26 patients. Penile curvature was corrected by plate transection in 9 children (28.2%) and plate transection combined with ventral corporotomies in 23 children (71.8%). Bracka operation was performed on 8 cases, Duckett operation on 1 case, STAG operation on 8 cases, and STAC operation on 15 cases. We noted recurrence of curvature in 7 children (Bracka 3, STAG 2, STAC 2) which required dorsal plication during the urethroplasty. Second/third stage was completed in all children. Success, hematoma, fistula, meatal stricture, glanuler dehisence, graft stricture rates determined to be 53.2%, 6.25%, 12.5%, 12.5%, 6.25% and 9.37% respectively. Staged procedures give the oppurtunity to correct the residuel or recurrence curvature before urethroplasty. Follow up is important to address long term functional results of ventral corporotomies.