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Introduction: Caring for individuals with rare diseases can be challenging and represent a burden. Nevertheless, this has been scarcely explored in Prader-Willi syndrome (PWS). Therefore, we sought to explore the psychological impact of caregiving, as well as the differences between main caregivers and other family members., Methods: Different evaluation tools and scales were used taking into consideration the impact on caregivers. The scales were administered to those relatives who are immersed in the usual dynamics of the patient, differentiating between the main caregiver and other relatives living in the family home., Results: A total of 33 families of patients with genetic confirmation of PWS were included. In this survey, 32% of primary caregivers reported a high probability of anxiety, compared with 19% of non-primary caregivers (p = 0.27). Concerning depression, 40% of primary caregivers related possible or probable cases of depression compared with non-primary caregivers 13% (p = 0.04). Regarding caregiver burden evaluated using the Zarit scale, 61% of the main caregivers presented high levels of overload, compared with 29% of the other relatives (p = 0.005). Family functioning evaluated using the APGAR scale showed a total lower response from primary caregivers, but no statistically relevant results were found [25.4 ± 6.7 vs. 26.0 ± 8.2 (p = 0.72)]., Conclusion: In this study, we observed that caring for people with PWS can have a significant effect on the mental health, burden and quality of life of caregivers, with a greater impact among primary caregivers compared with the other living relatives., (© 2023 John Wiley & Sons Ltd.)

Objective: The objective of this work was to compare excision with primary closure according to Karydakis technique (KT) with en bloc resection with secondary healing (EB) in the treatment of pilonidal sinus in adolescents., Material and Methods: An observational, retrospective, multi-center study was carried out in adolescent patients (11-18 years old) diagnosed with pilonidal sinus and undergoing surgery from 2011 to 2017. Patients were divided into 2 groups: KT (pediatric surgeons) and EB (general surgeons)., Results: Our sample consisted of 61 patients (KT: 26 patients; EB: 35 patients). Mean total recovery time (days) was significantly shorter in the KT group (37.77 KT vs. 107.76 EB, p< 0.001). In terms of postoperative complications, no differences were noted regarding overall complication rate (53.8% KT vs. 40% EB). However, differences were found in postoperative bleeding (0% KT vs. 25.7% EB, p=0.005), seroma occurrence (23.1% KT vs. 0% EB, p=0.003), and surgical wound dehiscence (42.3% KT vs. 8.6% EB, p=0.002). Recurrence rate was lower in the Karydakis group than in the en bloc resection group (4% vs. 28.6%, p=0.015)., Conclusions: Both surgical techniques (KT and EB) are acceptable and safe, but in our study, Karydakis technique demonstrated to be more effective than en bloc resection with secondary closure, since it allowed for shorter recovery times and lower recurrence rates. Therefore, Karydakis surgical technique can be an excellent alternative in the treatment of pilonidal sinus in the adolescent population.

Objective: Evaluate ultrasound (US) sensitivity and specificity in suspected thyroglossal duct cysts (TGDC) undergoing surgery in our hospital, and their correlation with surgical findings., Material and Methods: Retrospective study of 150 patients undergoing surgery for midline neck mass suggestive of TGDC (2008-2018). We analyzed epidemiological variables and compared the correlation between diagnostic ultrasound imaging and surgical findings, considering previous episodes of local infection., Results: Mean age at surgery was 3.96 years (0.75-12.58 years). Of the 150 patients, 81 were male and 69 were female. Following ultrasound examination, 110 were suspected to have TGDC, and diagnosis was confirmed after surgery in 80 cases. Of the remaining 40 cases without TGDC-compatible US examination, TGDC was confirmed in 15 cases. The rest were diagnosed with dermoid cyst (49), lymphadenopathy (4), and vascular malformation (2). US sensitivity was 84%, while specificity was 45%, with a positive predictive value of 73%, and a negative predictive value of 62%. In 62.1% (59) of TGDCs, a previous infection episode had been described, with 16.7% of cases requiring surgical drainage. 13.6% had recurrence after Sistrunk technique. There was no statistically significant relationship between previous infection episodes and postsurgical recurrence, or between surgical or spontaneous drainage and cyst recurrence., Conclusions: Even though US role in eutopic thyroid gland identification cannot be doubted, it provides with low specificity in the study of midline neck masses. Therefore, the physician's opinion should be prioritized.

Objective: To compare the outcomes and complications between laparoscopic gastrostomies (LG) and percutaneous endoscopic gastrostomies (PEG)., Methods: Retrospective review of 79 patients who had their gastrostomies inserted in our hospital (2010-2017). We compared surgical techniques, minor and major complications., Results: A total of 24 LG (14 males) and 55 PEG (29 males) were performed. The mean age was 4.77 [0.15-15.56] years for LG and 5.37 [0.12-16.58] years for PEG. The median time of presentation of complications was 59 [2-975] days. No statistical differences were found in minor complications between both techniques; however, minor complications were more frequent in LG (54.16% in LG versus 34.55% in PEG), mainly, overgranulation and peristomal leakage. A statistically significant association was found between patients with oncological comorbidity and minor complications (p<0.05).A statistically significant association was found between major complications and PEG (4.17% in LG versus 21.82% in PEG), p=0.045. The major complications were one tube dislodgement in the LG group, and 9 Buried-Bumper syndrome, one colon interposition without perforation, one colon perforation, one omentum interposition, two tube dislodgements and one small bowel perforation in PEG group., Conclusions: Given the statistically significant association between major complications and the PEG group, being the higher frequency and severity of these complications with this technique evident; we consider the LG a safer technique. However, studies with larger number of patients and multicentric are necessary.

Schwannomas are tumours originating in the Schwann cells of the peripheral nerves. The appearance in the colon is extremely rare, and there are no known cases in the literature of schwannomas of the colon and rectum described in children. These tumours are usually asymptomatic, but can produce non-specific and gastrointestinal symptoms. The clinical presentation as intestinal intussusception is infrequent. We present a case of an 11-year-old girl with sigmoid swchannoma presented clinically as a colonic intussusception with abdominal pain, rectal bleeding and constipation of 10 days. An intestinal resection with free surgical margins was performed., (Sociedad Argentina de Pediatría.)

Objective: To compare postoperative follow up in patients older and younger than 12 months who underwent surgical treatment of ureteropelvic junction obstruction (UJO)., Material and Methods: Retrospective study of 77 patients, 78 kidney units, intervened from UJO (2007-2014). We analyzed epidemiological, clinical, echographic, and pre and postoperative renogram variables, outcomes and complications. We divided the patients into 2 groups according to age: group A ≤ 12 months and group B > 12 months, comparing the results by statistical analysis, considering p < 0.05 statistically significant., Results: Group A: 38 patients, 26 males (68.4%), one bilateral UJO and 22 rights (57.9%), 36 prenatal diagnoses (92.3%) and mean age of intervention 5.28 months [range 0.24 -11,28]. We performed 9 minilumbotomies, 29 assisted by retroperitoneoscopy (ARP) and 1 pneumatic dilation (PD). Group B: 39 patients, 26 males (66.7%), 10 rights (25.64%), 19 prenatal diagnoses (48.7%) and mean age 6.13 years [range 1.13-14.52]. 15 minilumbotomies, 20 ARP, 3 laparoscopic and 1 PD. Preoperative mean renal function (MRF) of group A: 35.9 ± 13.4 [range 8-57] vs. 39.74 ± 13.91 [range 9-57] in group B (p = 0.347). Postoperative MRF 43.29 ± 18.2 [range 12-100] group A and 39.41 ± 12.89 [range 11-54] group B (p = 0.464). Group A and B: 11 and 8 complications, respectively (p = 0.429). We did not find statistically significant differences in the mean preoperative anteroposterior diameter (DAP) between both groups (p = 0.313). We compared DAP at 3, 6, 12, 24 and 48 postoperative months, observing a greater reduction of DAP from group A compared to B; however, we found only statistically significant differences in DAP at 3 months postoperatively (p = 0.047)., Conclusion: Renal DAP is reduced postoperatively more in patients younger than 1 year. Moreover, an improvement of the DRF after pieloplasty can be observed despite not being statistically significant.

Objetive: To analyze changes in the therapeutic approach at a tertiary care hospital following the implementation of a clinical guideline for the treatment of primary vesicoureteral reflux (VUR) in children., Population and Methods: Retrospective study conducted in a cohort of patients with primary VUR (1989-2015) aged 0-15 years at a tertiary care hospital. The therapeutic approach before and after the development of the clinical guideline (2008) was compared., Results: A total of 297 patients (49.8% boys, 50.2% girls) were included; their mean age at the time of diagnosis was 21.71 months. VUR grading was: VUR I-III 45.1%, VUR IV-V 54,9%; 124 were treated after the implementation of the clinical guideline (group 1), and 173, before (group 2). The mean follow-up period was 124.32 months. A conservative approach was the initial treatment in 70.3% of group 1 patients and 67.9% of group 2 patients. The number of surgeries remains constant (31.45% versus 31.79%), with an increase in the number of endoscopic surgeries (p < 0.005). The profile of patients has changed based on the application of the algorithm proposed by the guideline. Fewer surgeries were done in patients with VUR IV-V (82.32% versus 59.9%, p= 0.000) and there were fewer cases of kidney damage at diagnosis (49.4% versus 9.8%, p= 0.000)., Conclusions: The implementation of the clinical guideline has favored an initially conservative approach in patients with severe grade VUR and nephropathy, for whom surgery was traditionally indicated initially. Using clinical guidelines favors a unanimous, evidencebased approach that reduces the performance of unnecessary invasive procedures., (Sociedad Argentina de Pediatría)

Objectives: To identify the factors that lead to postoperative morbidity in acute appendicitis patients treated using a TULAA (Transumbilical laparoscopic assisted appendectomy) approach., Material and Methods: Retrospective review of patients treated through a TULAA approach between 2007 and 2014. Data concerning the location of the appendix, need for conversion, appendiceal abscess or perforation, surgical time and other complications were collected. Student's T test and Chi-squared test were used for statistical analysis., Results: A total of 111 appendectomies underwent TULAA. The average operating time was 79 minutes (45-150). Nonperforated appendicitis was found in 90% of patients with 10% having perforated appendicitis or appendiceal abscess. In 35,13% of cases, additional trocars were used, usually when the appendix was in a retrocecal position (89,5%). When the appendix was found in a pelvic or ileal position, a need for extra trocars decreased to 25.9% (p< 0.05). The surgery was converted to open surgery in 6,3% of the cases. The appendix in a retrocecal position had a conversion rate of 20,8% compared to 2,3% of cases with an appendix in a pelvic location (p< 0.05). A total of 3,6% reported postoperative wound infection, possibly caused by perforation of the appendix during extraction (p< 0.05). All the perforated appendixes were considered complicated appendixes., Conclusions: The retrocecal location of the appendix is associated with the need to install additional trocars or conversion to open surgery. The TULAA approach is ideal for patients with nonperforated acute appendicitis in a pelvic or ileal location.

Objectives: To analyze the correlation between pyloric size and evolution of patients surgically treated for infantile hypertrophic pyloric stenosis (IHPS)., Patients and Methods: We realized a retrospective study of 109 patients undergoing IHPS in 5 years. We analyzed by χ2 test if a correlation between evolution time, age and postoperative vomiting and gastroesophageal reflux disease (GERD), and pyloric muscle thickness (group A > 4.5 mm and group B ≤ 4.5 mm) and pyloric channel length (group A ≥ 20 mm and group B < 20 mm) exists., Results: There is a statistically significant correlation between longer evolution history (>48 h) and pyloric length ≥ 20 mm and between age (> 30 days) and muscle thickness > 4.5 mm (p= 0.022 and p= 0.009, respectively). Also, 38.5% of 109 patients had postoperative emesis 2 days after surgery and 13.8% had GERD for a median time of 8.27 months (1-12 months), showing that there is a statistically significant correlation (p= 0.007) between pyloric channel length ≥ 20 mm and postoperative emesis. It was not observed correlation between pyloric thickness and length and GERD., Conclusions: It has been observed that there is correlation between pyloric length ≥ 20 mm and postoperative emesis. However, it has not been observed regarding the pyloric muscle thickness. A longer preoperative evolution and age > 30 days are correlated to channel length ≥ 20 mm and muscle thickness > 4.5 mm, respectively.

Objective: To describe our experience with pilomatrixomas, clinical presentation, clinical accuracy, associated diseases, and surgical treatment., Methods: A retrospective review of patients with a pathology report of an excised pilomatrixoma between 2011 and 2014. Data regarding gender, age of intervention, number of masses, size, location, and preoperative clinical diagnosis, pathology report, recurrences, and associated diseases were collected. Statistical analysis was performed using EPIinfo 7.1.5., Results: A total of 151 tumors in 138 patients were removed, 25 were excluded for having a clinical diagnosis of pilomatrixoma without confirmation of the pathology report. The remaining 126 cases have an average age of 8.26 years (range 1-14 years) and 50.72% are males. The tumors were located above the umbilicus in 97% of the cases, with a higher concentration of 50.72% in the head and neck. The clinical diagnosis corresponds with the pathology report in 69.05% of cases. Out of these confirmed cases the most frequent differential diagnosis is cystic lesion (11.90%) and dermoid cyst (10.22%). There were no cases of malignant degeneration. The average diameter is 1.13 cm, there were no recurrences, but there were 11 cases of a new lesion in a different location. There is no statistical association with other pathologies. The most frequent diseases found were obesity (3.62%) and attention deficit syndrome (3.62%)., Conclusion: The pilomatrixoma is a tumor that appears predominantly in the head and neck, and has a difficult clinical diagnosis. Complete removal is curative, although it does not prevent the appearance of new lesions.

Objectives: To assess the long-term evolution of the testicles preserved after testicular torsion (TT)., Material and Methods: We realized a prospective study by ultrasound of patients diagnosed TT that underwent orchidopexy. We reviewed 85 patients treated for acute scrotum (2004-2014), finding 49TT. We excluded from the study 15 perinatal torsions, 14 orchiectomies and 5 patients who refused to participate. We analyzed 15 patients, comparing testicular volumes between affected and contralateral testes, and the difference in volume between the two testes of the 15 cases with 14 control patients (Mann-Whitney U test)., Results: 15 patients underwent surgery at a mean age of 10,7 years, with an average time of 6 hours evolution [0,7-24]. The control ultrasound was performed at a mean age of 14,7 years, after a mean time of 47 months after the episode, finding a medium volume of the affected and contralateral testicle of 9,3 cc and 12,6 cc, respectively (p = 0,683). The median of the difference between the volumes was 0'8 cc [0,1-12,80]. In the control group, ultrasounds were performed at a mean age of 16 years, with an average volume of 6,64 cc on right testicle and 6,26 cc on the left, and median volume difference of 0,34 cc [0,05-4,59]; with no statistically significant difference (p = 0,270) between testicular volume differences of cases and controls., Conclusion: Testicular orchidopexy in patients with TT with less than 6 hours of evolution does not affect the long-term testicular growth, compared with the contralateral testis growth and testes of the normal population.

Objectives: To examine the morbidity and mortality of the formation and closure of enterostomies., Methods: Retrospective study between 2000-2014 of patients younger than 14 years old who underwent an enterostomy. We evaluated: surgical technique, underlying pathology, general and stoma complications, sex, age and weight at the time of formation. At the closure we evaluated: surgical technique, age, weight, hemoglobin, hematocrit and albumin, as well as complications., Results: We performed 120 enterostomies in 114 patients: 69 (57.5%) colostomies, 43 (35.8%) ileostomies and 8 (6.7%) yeyunostomy. The most frequent causes were: anorectal malformation (45/69), necrotizing enterocolitis (24/43) and intestinal atresia (4/8) respectively. 39 (32.5%) complications related to the stoma (colostomy 21, Ileostomy 15, Yeyunostomy 3; p= 0.845), 11 (9.2%) required surgery (colostomy 8, Ileostomy 2, Yeyunostomy 1; p= 0.439), and 17 (14.2%) general complications (colostomy 9, Ileostomy 7, Yeyunostomy 1; p= 0.884). We found a higher rate of complications requiring surgery in loop enterostomy 8/38 (21.1%), separated 3/54 (5.3%) or double-barrel 0/25 (p= 0.007). We closed 96 (80%), presenting complications in 14; yeyunostomy 4/6 (66.7%), colostomies 5/59 (8.5%), ileostomies 5/31 (16.1%) (p= 0.001). Hematocrit and hemoglobin below age average, and albumin under normal values are associated with complications when closing enterostomies (p< 0.05). Six patients (25%) who didn't went to closure died as a result of the underlying pathology and 5 (20.8%) of other causes., Conclusion: The formation and closing of enterostomies remains a procedure with a high rate of complications. However, there are no clear risk factors, excepting the use of loop enterostomy and lower albumin, hemoglobin or hematocrit at the time of closure.

Objecive: Hypertrophy of labia minora in adolescence is a little known disease. However, the growing demand for the solution of this problem pushes us to include it in our clinical practice. We evaluated the aesthetic and functional results of labiaplasty using straight amputation of the protuberant tissue of the labial edges., Methods: Patients treated by hypertrophy of labia minora were reviewed. We evaluated the results of aesthetic, functional and surgical complications. A survey on the degree of satisfaction was also conducted., Results: We collected 16 patients with 28 labioplasty, indicated by discomfort with the clothing and exercise. They were performed at a median age of 13.43 years (range 11.25-14.31). Bilateral 11 (64.7%), left 4 (23.5%) and rights 2 (11.8%). The median hospital stay was 1 day (range 1-3). There was evidence of immediate complications (partial dehiscence of the scar) in 1 (3.57%) patient and late complications in 2 (7.14%) patients (granuloma in the scar and recurrence), in a median follow up time of 1.58 years (range 0.19-7.76). The survey was answered by 13 patients. All of them said that preoperative discomfort was resolved. Postoperative discomfort (pain or straps) were nothing or very few in 61.54% and the median time of inconvenience was 5 days (range 1-30). They felt an improvement in self-esteem 69.23% and the 30.77% remaining never presented a problem about that. Median overall satisfaction was 8 (range 7-10) over 10, and the 100% of patients would repeat surgery., Conclusion: The labiaplasty by straight amputation in adolescence is an effective technique with few complications, and with a high degree of satisfaction for patients.