Initial case series experience with robotic-assisted transanal minimally invasive surgery performed with da Vinci single-port system for the excision of rectal cancer.

BACKGROUND: Transanal minimally invasive surgery (TAMIS) is widely used for rectal lesion excision. Robot-assisted TA TAMIS (R-TAMIS) may improve surgical ergonomics. The introduction of the da Vinci Single-Port (SP) robot, designed for endoluminal surgery, has brought new possibilities. Our primary objective herein was to assess the technical and oncological feasibility and efficacy of Single-port robotic TAMIS (SPR-TAMIS) in rectal cancer excision. The secondary objective was to analyze the perioperative outcomes. MATERIALS AND METHODS: We included 14 consecutive patients with rectal cancer who underwent SPR-TAMIS between April 2021 and February 2023. Patient data, surgical details, and clinical outcome data were collected to assess the safety and feasibility of SPR-TAMIS. RESULTS: The median participant age was 72 years, and full-thickness excision was performed without specimen fragmentation in all cases. The median tumor diameter was 2.7 cm, positioned between 10 cm proximally and 7 cm distally from the anal verge. Negative margins were achieved in 93% of cases, with one case requiring further resection. The median operative time was 175 min, and the median hospital stay was 5 days. No intraoperative conversion from SPR-TAMIS to laparoscopic or conventional transanal excision was required. No mortalities or major postoperative complications occurred; however, one patient (7.1%) experienced minor morbidity manifesting as wound dehiscence (Clavien-Dindo grade I). No recurrence was observed during the 24-month follow-up. CONCLUSIONS: In our early experience, SPR-TAMIS is a safe and feasible surgery for selected early stage rectal cancers, offering enhanced visualization and stable maneuverability transanally. This platform may have potential advantages for the excision of larger or more proximal lesions.

Successful outcome with oral sirolimus treatment for complicated lymphatic malformations: a retrospective multicenter cohort study.

Purpose: Sirolimus has emerged as a safe and effective treatment for complicated lymphatic malformations (LMs). We aim to prove the effectiveness and safety of sirolimus as a therapeutic option for patients with complicated LMs. Methods: Fifty-eight patients with complicated LMs treated with sirolimus for at least 6 months at multicenter between July 2018 and January 2023 were enrolled. All patients were administered oral sirolimus starting at 0.8 mg/m2 every 12 hours, with target serum concentration levels of 8-15 ng/mL. Evaluation for clinical symptoms and LMs volume on MRI were reviewed to assess treatment response and toxicities. Evaluation of disease response was divided into 3 values: complete response, partial response (significant, moderate, and modest), and progressive disease. Results: The median age at the initiation of sirolimus treatment was 6.0 years (range, 1 month-26.7 years). The median duration of treatment was 2.0 years (range, 6 months-4.4 years). The most common lesions were head and neck (25 of 58, 43.1%). Forty-six patients (79.3%) demonstrated a reduction in LMs volume on MRI or improvement of clinical symptoms including 2 complete responses. The young age group and the patients who underwent few prior therapies showed better responses. None of the patients had toxicities attributable to sirolimus with a Common Terminology Criteria for Adverse Events grade of ≥3. Conclusion: Oral sirolimus treatment brought a successful outcome without severe adverse effects. It could be the first-line therapy, especially for the young age group of complicated LMs, and an additional option for refractory lesions that did not respond to conventional treatment.

Clinical characteristics and treatment outcomes of symptomatic Meckel diverticulum: a comparative study among children, adolescent, and adult patients.

Purpose: We investigated the clinical characteristics and treatment outcomes of symptomatic Meckel diverticulum (MD) in adolescents by comparison with children and adults. Methods: We retrospectively reviewed the medical records of patients who underwent symptomatic MD surgery from January 2002 to December 2019. Demographic information, clinical presentations, preoperative evaluations, operative variables, postoperative outcomes, and pathologic findings were collected. We performed analyses by dividing all patients into three groups according to age at surgery: child group (<10 years), adolescent group (10-19 years), and adult group (≥20 years). Results: Forty-three patients underwent symptomatic MD surgery (the child group, 14; the adolescent group, 17; and the adult group, 12). Vomiting and intestinal obstruction decreased significantly with age (P = 0.042 and 0.001), whereas hematochezia and gastrointestinal bleeding showed an increasing trend with age, although not statistically significant (P = 0.064 and 0.064). Ultrasound performance decreased significantly with age (P = 0.002), whereas CT performance showed an increasing trend with age, although not statistically significant (P = 0.193). Preoperative diagnosis rate increased significantly with age (P = 0.029). Laparoscopic surgery was performed significantly more in the adult group than in other groups (P = 0.001). The sizes of MD were significantly greater in the adolescent group than in other groups (P = 0.006 and 0.002). Conclusion: The clinical characteristics and treatment outcomes of symptomatic MD in adolescents exhibit a transitional pattern between children and adults. Therefore, it is important for clinicians to recognize that adolescent patients with symptomatic MD have the characteristics of both children and adult patients to ensure optimal care.

Optimal timing for inguinal hernia repair in premature infants: surgical issues for inguinal hernia in premature infants.

Purpose: We analyzed the timing of inguinal hernia repair in premature infants in the neonatal intensive care unit (NICU) considering recurrence, incarceration, and other complications. Methods: In this multicenter retrospective review, premature infants (<37 weeks) in the NICU diagnosed with inguinal hernia between 2017 and 2021 were segregated into 2 groups based on the timing of inguinal hernia repair. Results: Of 149 patients, 109 (73.2%) underwent inguinal hernia repair in the NICU and 40 (26.8%) after discharge. Preoperative incarceration did not differ, but complications with recurrence and postoperative respiratory insufficiency were higher in the NICU group (11.0% vs. 0%, P = 0.029; 22.0% vs. 5.0%, P = 0.01). Multivariate analysis showed that the significant factors affecting recurrence were preoperative ventilator dependence and body weight of <3,000 g at the time of surgery (odds ratio [OR], 16.89; 95% confidence interval [CI], 3.45-82.69; P < 0.01 and OR, 9.97; 95% CI, 1.03-95.92; P = 0.04). Conclusion: Our results suggest that when premature infants are diagnosed with inguinal hernia in the NICU, inguinal hernia repair after discharge may decrease the odds of recurrence and postoperative respiratory insufficiency. In patients who have difficulty delaying surgery, it is thought that surgery should be performed carefully in a ventilator preoperatively or weighed <3,000 g at the time of surgery.

Clinical Characteristics and Treatment Outcomes Among Patients With Gastrointestinal Phytobezoars: A Single-Institution Retrospective Cohort Study in Korea.

Purpose: To describe our experience with phytobezoars, evaluate risk factors on treatment, and analyze whether previous gastric surgery affects treatment outcomes. Methods: Medical records of 51 patients with phytobezoars between 2000 and 2019 were retrospectively evaluated. We compared endoscopic and surgical treatment groups and evaluated risk factors using multivariate logistic regression analysis. And we compared patients with and without previous gastric surgery in the surgical treatment group. Results: The median patient age was 62.9 (range: 27-89) years. The endoscopic and surgical treatment groups included 26 (51%) and 25 (49%) patients, respectively. Patients aged ≥65 years, diabetes, and small intestinal phytobezoars were more frequent in the surgical treatment group. Previous gastric surgery (n = 16, 31.4%) was the most common predisposing risk factor, but without a significant difference between the groups. Enterotomy was performed for 20 patients (80%), segmental resection was performed for five patients (20%). Five patients (20%) had postoperative complications; there was one death. There were no significant differences in age, preoperative diagnosis, operation method, operative time, or postoperative stay between patients with and without previous gastric surgery, but postoperative complications were significantly more common in patients with previous gastric surgery. Conclusions: Phytobezoar should be suspected early in patients with previous gastric surgery or a specific food intake history. Early diagnosis and treatment are important for avoiding surgical intervention and complications, especially in elderly patients. Surgery is required in most patients with small intestinal phytobezoars, safe removal can be achieved mainly via enterotomy.

Unpowered Scooter Injury in Children at a Korea Level I Trauma Center.

Purpose: Unpowered scooters for recreation and transportation are popular among children. However, to date, there have been no studies on scooter-related injuries in Korea. This study aimed to assess the frequency and injury pattern with unpowered scooters and to propose prevention strategies. Methods: Medical records of children aged <16 years with unpowered scooter-related injuries who visited the emergency department (ED) from 2007 to 2018 were retrospectively reviewed. Results: A total of 109 children were included. The majority (78.9%) of injuries occurred during the last 3 years of the study. The mean age was 5.2 years, and 88% of children were <8 years of age. Most injuries (80.7%) occurred from a fall off a scooter. A total of 65.1% (n = 71) of injuries were to the head and face, followed by upper limb, lower limb, and torso injuries. Eight patients had an intracranial injury and skull fracture. Twenty children had limb fractures, and the most common site of fracture was the elbow. None of the patients wore any protective gear. Conclusions: Unpowered scooter-related injuries are on the increase and represent a serious problem among younger children. The head and face, where serious injuries can occur, are the most vulnerable. Public and parental awareness and education regarding protective gear and safety guidelines are essential to prevent injuries.

Clinical Characteristics According to Age and Duration of Symptoms to Be Considered for Rapid Diagnosis of Pediatric Intussusception.

Purpose: The purpose of this study was to evaluate whether clinical findings in children with ileocolic intussusception differ based on age and duration of symptoms and to assess the clinical characteristics of diagnosed and undiagnosed patients to determine which symptoms make diagnosis more difficult. Methods: We reviewed 536 medical records of <15-year-old children diagnosed with ileocolic intussusception between 2008 and 2019. We divided the children into three categories according to age (<1 year, 1-2 years, and ≥2 years). The children were also divided into two groups based on whether symptoms lasted for more or <6 h. Diagnosed and undiagnosed children were assessed separately during for the initial evaluation. Results: Following analysis of the three age groups, bloody stool, post-enema bloody stool, diarrhea, vomiting, poor oral intake, and lethargy were more frequent in children aged <1 year. In children aged ≥2 years, non-specific abdominal pain was more frequent and the undiagnosed rate was higher. Following analysis of the duration of symptoms, paroxysmal pain was significantly more frequent in the early group (<6 h), and bloody stool and fever were significantly more frequent in the late group (≥6 h). Nonspecific abdominal pain was more frequent and the door-to-diagnosis time was significantly longer in the undiagnosed group than in the diagnosed group. Conclusions: Clinical findings of ileocolic intussusception vary depending on the age and duration of symptoms. Younger children with paroxysmal pain, vomiting, bloody stool, poor oral intake, or lethargy should be suspected of having intussusception. In older children, non-specific abdominal pain without bloody stool may be a symptom of intussusception. Glycerin enema is helpful in diagnosing intussusception in children with no typical symptoms.

Management of recurrent ileocolic intussusception.

PURPOSE: The aims of this study were to evaluate the need for surgical intervention for patients with recurrent ileocolic intussusception (RICI), especially for multiple recurrences, and to investigate whether early and late recurrence patterns were associated with surgery. METHODS: Patients with ileocolic intussusception (ICI) during the years 2007-2019 were included. Demographic data, recurrences, and outcomes were analyzed. Early RICI was defined as recurrence within 48 h. RESULTS: Overall, 604 episodes of ICI were confirmed in 491 patients. The recurrence rate was 13.8%, with 113 episodes in 68 patients. There were no statistically significant differences in age, reduction success rate, operation, or pathological lead points (PLPs) between the recurrence and non-recurrence groups. There was no significant association between the number of recurrences and the presence of a PLP or between the number of recurrences and whether the recurrences were early or late. The presence of PLPs was not significantly associated with age or recurrence, but the reduction success rate was significantly lower (P < 0.001). CONCLUSIONS: Each recurrence should be managed as a first episode, regardless of early or late recurrence. Operative reduction should be considered when nonoperative reduction fails, a PLP is suspected, or there are signs of peritonitis. TYPE OF STUDY: Treatment Study. LEVEL OF EVIDENCE: Level III.

Corrigendum to "Total Intravenous Anaesthesia with High-Dose Remifentanil Does Not Aggravate Postoperative Nausea and Vomiting and Pain, Compared with Low-Dose Remifentanil: A Double-Blind and Randomized Trial".

[This corrects the article DOI: 10.1155/2014/724753.].

Rapidly growing pediatric trampoline-related injuries in Korea: a 10-year single center retrospective study.

PURPOSE: Several published policy statements have warned against the risks associated with trampoline use and recommended safety guidelines. However, few studies have focused on trampoline-related injuries in Korea. This study aimed to assess the incidence and characteristics of pediatric trampoline-related injuries presented to Ulsan University Hospital. METHODS: We retrospectively reviewed the medical records of children aged <16 years with trampoline-related injuries who visited our Emergency Department between 2008 and 2017. RESULTS: Over the 10-year period, 178 trampoline-related injuries were reported, which represented a significant increase (P=0.016). Most (87.6%) of the injuries occurred during the last 5 study years, and a rapid increase in injuries was observed in children aged <6 years. Lower extremity injuries (62.4%) were the most common, followed by injuries of the upper extremities, head and face, and trunk, including injuries to the neck and spine. Sixty-seven children (37.6%) had fractures, and proximal tibia fractures were the most common. Fractures were significantly more common in younger children (<6 years old) than in older children (P=0.026). CONCLUSION: In Korea, the mechanism of trampoline injury is similar to that of injuries incurred in indoor trampoline parks but is characterized by smaller spaces and multiple users. Trampoline use and the incidence of trampoline-related injuries in children aged <6 years are increasing rapidly. Prohibiting the use of trampolines for children aged <6 years, restricting simultaneous use by multiple children, and ensuring adult supervision should be strictly emphasized. Public awareness and policy guidelines are needed to reduce the incidence of trampoline-related injuries.

Half-life of alpha-fetoprotein in neonatal sacrococcygeal teratoma.

BACKGROUND: Alpha-fetoprotein (AFP) is useful as a tumor marker for sacrococcygeal teratoma (SCT). We investigated the half-life of AFP in SCT. METHODS: Neonates who underwent surgical treatment for SCT between 1997 and 2016 were included in the study, whereas patients who died before or after surgery or had malignant germ cell tumors were excluded. RESULTS: Fifty-five non-recurrent SCT patients (M:F = 18:37) were enrolled. They underwent surgery on average 7.4 ±â€¯4.1 days after birth. Serum AFP was measured an average 4.25 ±â€¯2.07 times per patient. We obtained 165 half-lives following the formula (M = Mo * (1/2) Δt/T). A positive correlation was observed between half-life and patient age using the formula T1/2 = 0.0597 × days +6.1643 (p < 0.001). It was different from recurrent SCT (T1/2 = 0.1196 × days -0.0633) (p < 0.05). Half-life was different between mature SCT (T1/2 = 0.0671 × days +4.3912) and immature SCT (T1/2 = 0.0433 × days +8.9339) (p < 0.05). CONCLUSION: The half-life of AFP in neonatal patients with SCT was prolonged in proportion to the age, and it was getting longer in recurrent tumor than non-recurrent tumor. The half-life of AFP was longer in immature teratoma than in mature teratoma. LEVEL OF EVIDENCE: IV.

Transition from Laparotomy to Laparoscopic Repair of Congenital Duodenal Obstruction in Neonates: Our Early Experience.

BACKGROUND: The aim of this report was to review our early experience of the last 7 years with repairs of congenital duodenal obstruction (CDO) to determine the efficacy and outcomes of laparoscopic repairs compared to laparotomy. METHODS: A retrospective review was conducted on all neonate (<30 days) with CDO between 2009 and 2015. Patients with duodenal atresia, stenosis, web, and annular pancreas were included. Patients with only malrotation or delayed presentation were excluded. RESULTS: Twenty-six neonates underwent laparoscopy and 30 underwent traditional laparotomy. The operative time was longer in the laparoscopic group (P = 0.001), but time to initiation of feeds and time to full feeds were similar for the laparoscopic and open groups. There was no mortality, anastomosis leakage, or stenosis in the laparoscopic group. Six laparoscopic cases required conversion to an open procedure (23%). In the earlier cases, the open conversion rate was high, but it decreased over time (P = 0.003). CONCLUSION: Laparoscopic repair is safe and effective for repair of CDO in neonates. Despite operative time was slightly longer in the laparoscopic group, clinical outcomes remained similar to the open group. For pediatric surgeon with experience in laparoscopic techniques, laparoscopic duodenoduodenostomy is a sufficient available procedure.

Clinical Analysis of Stercoral Perforation without Mortality.

AIMS: This study was designed to review the clinical features of stercoral colonic perforation and to evaluate the appropriate intraoperative procedures and postoperative management to achieve the best surgical outcomes. METHODS: Between January 2009 and December 2015, 12 patients with stercoral perforation confirmed surgically and pathologically were included in this study, and their medical records were reviewed retrospectively. RESULTS: The enrolled patients included 2 men and 10 women; their mean age was 73.8 years. Abdomino-pelvic CT was an important diagnostic tool, which revealed fecalomas, extraluminal air and pericolic fat stranding in all patients. Hartmann's operation was performed in all patients, with a mean operation time of 239.3 min. Perforation site was in the left colon, mainly in the sigmoid colon. Intraoperative hypotension developed in 8 cases (66.7%). Postoperatively, all patients needed intensive care for 6.5 days and 6 patients needed the administration of inotropic agents for 3.0 days postoperatively. Disseminated intravascular coagulation developed in 10 cases (83.3%). There was no surgical mortality. CONCLUSION: Colorectal surgeons should be aware of the possibility of stercoral perforation, despite its rare incidence. Deep understanding of this potentially fatal disease by surgeons could reduce surgical mortality and improve postoperative outcomes.

Validity of breast-specific gamma imaging for Breast Imaging Reporting and Data System 4 lesions on mammography and/or ultrasound.

PURPOSE: The purpose of this study was to assess the breast-specific gamma imaging (BSGI) in Breast Imaging Reporting and Data System (BI-RADS) 4 lesions on mammography and/or ultrasound. METHODS: We performed a retrospective review of 162 patients who underwent BSGI in BI-RADS 4 lesions on mammography and/or ultrasound. RESULTS: Of the 162 breast lesions, 66 were malignant tumors and 96 were benign tumors. Sensitivity and specificity of BSGI were 90.9% and 78.1%, and positive predictive value and negative predictive value were 74.1% and 92.6%. The sensitivity or specificity of mammography and ultrasound were 74.2% and 56.3% and 87.9% and 19.8%, respectively. The sensitivity and specificity of BSGI for breast lesions ≤1 cm were 88.0% and 86.8%, while the values of beast lesions >1 cm were 92.7% and 61.5%. The sensitivity or specificity of BSGI and mammography for patients with dense breasts were 92.0% and 81.3% and 72.0% and 50.0%, respectively. 26 patients showed neither a nodule nor microcalcification on ultrasound, but showed suspicious calcification on mammography. The sensitivity and specificity of BSGI with microcalcification only lesion were 75.0% and 94.4%. CONCLUSION: This study demonstrated that BSGI had shown high sensitivity and specificity, as well as positive and negative predictive values in BI-RADS 4 lesions on ultrasound and/or mammography. BSGI showed excellent results in dense breasts, in lesions that are less than 1 cm in size and lesions with suspicious microcalcification only.

Use of Omega-3 Polyunsaturated Fatty Acids to Treat Inspissated Bile Syndrome: A Case Report.

Inspissated bile syndrome (IBS) is a rare condition in which thick intraluminal bile, including bile plugs, sludge, or stones, blocks the extrahepatic bile ducts in an infant. A 5-week-old female infant was admitted for evaluation of jaundice and acholic stool. Diagnostic tests, including ultrasound sonography, magnetic resonance cholangiopancreatography, and a hepatobiliary scan, were not conclusive. Although the diagnosis was unclear, the clinical and laboratory findings improved gradually on administration of urodeoxycholic acid and lipid emulsion containing omega-3 polyunsaturated fatty acids (PUFAs) for 3 weeks. However, a liver biopsy was suggestive of biliary atresia. This finding forced us to perform intraoperative cholangiography, which revealed a patent common bile duct with impacted thick bile. We performed normal saline irrigation and the symptom was improved, the final diagnosis was IBS. Thus, we herein report that IBS can be treated with omega-3 PUFAs as an alternative to surgical intervention.

Ovarian Cyst Aspiration in the Neonate: Minimally Invasive Surgery.

STUDY OBJECTIVE: To review our experience with laparoscopic aspirations and minimally invasive surgeries for neonatal ovarian cysts and report the outcome of their follow-up. DESIGN: Twenty-one neonates diagnosed as having ovarian cysts were retrospectively reviewed at our hospital from 2006 through 2013. RESULTS: Of 21 neonates, 8 showed simple cysts and 13 showed complex cysts in their ultrasound scan. Laparoscopic aspiration was performed for all neonates with simple cysts. Torsion was found in 7 of 13 neonates with complex cysts. Three neonates underwent detorsion, while 2 neonates underwent oophorectomy. Two neonates already showed autoligation, showing a cystic mass, which was removed. The remaining 6 neonates with a complex cyst underwent only aspiration because no torsion was found. Of 14 neonates who underwent only aspiration, 11 showed no cyst, while 3 neonates, having a cyst with a size of less than 2 cm, underwent follow-up. Of 3 neonates who underwent detorsion, 1 showed an ovary without cyst, while 2 showed neither cyst nor ovary. CONCLUSION: Laparoscopically, neonatal ovarian cysts may be diagnosed and aspirated simultaneously, simply, and safely.

An idiopathic gigantomastia.

Gigantomastia is a rare condition characterized by excessive breast growth. It has been reported that the majority of gigantomastia cases occur during either pregnancy or puberty. We were presented with a rare case of gigantomastia associated with neither pregnancy nor puberty, and successfully treated it with reduction mammaplasty and free nipple graft. This idiopathic gigantomastia is the very first case in Korea, and adds to the worldwide total of 9 reported cases.

A comparative analysis of endoscopic thyroidectomy versus conventional thyroidectomy in clinically lymph node negative thyroid cancer.

PURPOSE: Differentiated thyroid cancer has a good prognosis and high incidence in young women. Since endoscopic techniques were first recorded in 1996, surgical indications of endoscopic thyroidectomy have broadened. Therefore, the aim of this study is to investigate the usefulness of endoscopic thyroidectomy in clinically lymph node negative (cN0) thyroid cancer patients, based on oncologic completeness and safety, considering cosmetic outcomes. METHODS: From July 2009 to June 2011, a total of 166 cases had undergone endoscopic thyroidectomy using the BABA (bilateral axillo-breast approach) method or conventional open thyroidectomy by one surgeon. Finally, excluding 72 patients, 94 patients with cN0 thyroid cancer were divided into two groups according to operative methods and analyzed to compare differences between the two methods retrospectively (endoscopic group, n = 49; conventional open group, n = 45). RESULTS: We practiced comparative analysis for clinicopathologic characteristics, surgical outcomes including postoperative complications, and recurred cases during follow-up periods of each group. The results showed there was a tendency for patients, young, women rather than men, and having small size of thyroid cancer, to prefer endoscopic surgery to open surgery. Meanwhile, in postoperative complications, there were no statistically significant differences. During short follow-up periods, no recurrence or mortality case was observed. CONCLUSION: Endoscopic thyroidectomy is a feasible and safe method for the treatment of clinically lymph node negative (cN0) thyroid cancer.

Hirschsprung's disease in twin to twin transfusion syndrome: a case report.

Twin to twin transfusion syndrome (TTTS) is caused by aberrant vascular connections between infant twins and results in high morbidity and mortality in the perinatal period. In donor infants with TTTS and symptoms of intestinal obstruction, small-bowel lesions have been reported in most cases. We report on a 33(+6) gestational wk donor infant with TTTS who had intermittent obstructive episodes, including delayed meconium passage and colonic dilatation on abdominal X-ray. The diagnosis of Hirschsprung's disease was based on a lateral pelvic film with a reversed rectosigmoid ratio. A subsequent barium colon study and rectal suction biopsy indicated a short segment aganglionosis of the colon.

A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence of intramural nervous plexuses along variable lengths of the hindgut. Although RET is a well-established risk factor, a recent genome-wide association study (GWAS) of HSCR has identified NRG1 as an additional susceptibility locus. To discover additional risk loci, we performed a GWAS of 123 sporadic HSCR patients and 432 unaffected controls using a large-scale platform with coverage of over 1 million polymorphic markers. The result was that our study replicated the findings of RET-CSGALNACT2-RASGEF1A genomic region (rawP = 5.69×10(-19) before a Bonferroni correction; corrP = 4.31×10(-13) after a Bonferroni correction) and NRG1 as susceptibility loci. In addition, this study identified SLC6A20 (adjP = 2.71×10(-6)), RORA (adjP = 1.26×10(-5)), and ABCC9 (adjP = 1.86×10(-5)) as new potential susceptibility loci under adjusting the already known loci on the RET-CSGALNACT2-RASGEF1A and NRG1 regions, although none of the SNPs in these genes passed the Bonferroni correction. In further subgroup analysis, the RET-CSGALNACT2-RASGEF1A genomic region was observed to have different significance levels among subgroups: short-segment (S-HSCR, corrP = 1.71×10(-5)), long-segment (L-HSCR, corrP = 6.66×10(-4)), and total colonic aganglionosis (TCA, corrP>0.05). This differential pattern in the significance level suggests that other genomic loci or mechanisms may affect the length of aganglionosis in HSCR subgroups during enteric nervous system (ENS) development. Although functional evaluations are needed, our findings might facilitate improved understanding of the mechanisms of HSCR pathogenesis.