Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients.

We developed treatment guidelines (TGs) for appropriate transitional care of the genitourinary system in patients with persistent cloaca (PC), cloacal exstrophy (CE), or Mayer-Rokitansky-Küster-Häuser syndrome (MRKH). These TGs are in accordance with the Medical Information Network Distribution Service (Minds), published in 2014 in Japan. Clinical questions (CQs) concerning treatment outcomes of the genitourinary system, pregnancy and delivery, and quality of life in adulthood were prepared as six themes for PC and CE and five themes for MRKH. We were able to publish statements on chronic renal dysfunction, hydrometrocolpos, and pregnancy, based on four CQs about PC, four about CE, and two about MRKH, respectively. However, due to the paucity of proper manuscripts, we were unable to make conclusions about the correct timing and method of vaginoplasty for patients with PC, CE, and MRKH or the usefulness of early bladder closure for patients with CE. These TGs may help clarify the current treatments for PC, CE, and MRKH in childhood, which have been carried out on an institutional basis. To improve clinical outcomes, systematic clinical trials revealing comprehensive clinical data of the urinary and reproductive systems, especially the length of the common channel in PC, are essential.

Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.

BACKGROUND AND AIMS: In two Japanese infants with neonatal cholestasis, 3-oxo-Δ(4)-steroid 5ß-reductase deficiency was diagnosed based on mutations of the SRD5B1 gene. Unusual bile acids such as elevated 3-oxo-Δ(4) bile acids were detected in their serum and urine by gas chromatography-mass spectrometry. We studied effects of oral chenodeoxycholic acid treatment. PATIENTS AND METHODS: SRD5B1 gene analysis used peripheral lymphocyte genomic DNA. Diagnosis and treatment of these two patients were investigated retrospectively and prospectively investigated. RESULTS: With respect to SRD5B1, one patient was heterozygous (R266Q, a novel mutation) while the other was a compound heterozygote (G223E/R261C). Chenodeoxycholic acid treatment was effective in improving liver function and decreasing unusual bile acids such as 7α-hydroxy- and 7α,12α-dihydroxy-3-oxo-4-cholen-24-oic acids in serum and urine. CONCLUSION: Primary bile acid treatment using chenodeoxycholic acid was effective for these patients treated in early infancy before the late stage of chronic cholestatic liver dysfunction.

Transumbilical laparoscopically assisted appendectomy in children: the results of a single-port, single-channel procedure.

BACKGROUND: Even for pediatric patients, the use of laparoscopic appendectomy has been widely accepted, and three trocars usually are necessary to perform a laparoscopic appendectomy. However, single-port appendectomy for children represents an attractive alternative. To reduce the number of incisions and trocars, the authors have adopted a transumbilical laparoscopically assisted single-port appendectomy (TULAA) approach. This study aimed to evaluate the results of their single-channel, single-port appendectomy. METHODS: A retrospective study of TULAA was performed during 12 years with 500 children ages 2-16 years (median, 10.2 years). The TULAA approach is a single-channel surgery using a 12 mm conventional single-port. The vertical incision through the umbilicus is used for laparoscopic access. Two laparoscopic instruments, a 5 mm telescope and a 5 mm grasper, are inserted simultaneously into the single-channel. The grasper holds the base of the appendix, and the appendix is exteriorized through the umbilical incision. Thereafter, a conventional appendectomy is performed extracorporeally. RESULTS: The TULAA procedure was successful for 416 patients (83.2%). These successful TULAA procedures required a mean surgery time of 44.5 min. The pathologic diagnosis of the appendix was acute for 59 patients, phlegmonous for 203 patients, gangrenous for 152 patients, and not detected for two patients. Complications occurred for 47 of these patients (11.3%). Most of the complications were associated with severe intraabdominal inflammation. Two patients needed reoperation under general anesthesia. Conversion to multitrocar surgery or open appendectomy was performed for 84 of the patients (16.8%). CONCLUSIONS: The TULAA procedure is a preferable operation for acute appendicitis in children because it is simple and provides good cosmetic results.

Encouraging Young Pediatric Surgeons and Evaluation of the Effectiveness of a Pediatric Endosurgery Workshop by Self-Assessment and an Objective Skill Validation System.

Background: Japanese pediatric endosurgery experts conducted a workshop for young pediatric surgeons in Russia in collaboration with Russian expert pediatric surgeons. This study was aimed to develop a contributive workshop program and evaluate its impact on young pediatric surgeons. Methods: A 2-day pediatric endosurgery workshop was held in Moscow in February 2020. After conducting a needs assessment survey, Japanese and Russian faculties developed the workshop contents, including pre- and postworkshop skills assessments, lectures, and hands-on training. Skills assessments were performed using the objective skill validation system, the "A-Lap Mini," mimicking intestinal anastomosis. The trainees self-evaluated their knowledge and skills using a five-point scale. Results: Fifteen novice trainee participated and 14 (93.3%) completed the workshop program. The completion rate for the suturing task before and after the workshop was 40.0% (6/15) and 85.7% (12/14), respectively. The following five skill evaluation criteria, which were objectively evaluated: performance time changed from 751.6 ± 247.1 seconds to 780.0 ± 313.3 seconds (P > .05), number of full-thickness sutures improved from 1.0 ± 1.41 to 2.64 ± 0.84 (P = .003), area of wound-opening changed from 0.42 ± 0.83 mm2 to 0.53 ± 1.13 mm2 (P > .05), suture tension improved from 55.48% ± 19.51% to 61.95% ± 23.91% (P > .05), and maximum air leakage pressure improved from 3.76 ± 2.11 kPa to 8.42 ± 7.68 kPa (P > .05). Regarding the self-assessed questionnaire administered before and after the workshop, the confidence in endosurgery skills significantly improved as follows: forceps manipulation ability improved from 2.7 to 3.7 (P < .05), and suturing performance improved from 2.5 to 3.6 (P < .05). The usefulness of the workshop for clinical surgery was scored at 4.3. Conclusions: Quantitative skill evaluation with an automatic feedback function was useful for endosurgery training. Delivering feedback concerning the assessment results to the trainee helps them to determine the specific training requirements needed for clinical endosurgery.

Label-free detection of human enteric nerve system using Raman spectroscopy: A pilot study for diagnosis of Hirschsprung disease.

BACKGROUND: Hirschsprung disease (HSCR) is characterized by the absence of an enteric nerve system (ENS). To remove aganglionosis, bowel reconstruction is only a curative treatment. It is mandatory to identify the extent of aganglionosis during surgery. Raman spectroscopy is a nondestructive chemical analysis technique that provides detailed information regarding molecular vibrations. The purpose of this study is to detect the ENS using Raman spectroscopy in the human intestine for diagnosis of HSCR. METHODS: The Raman spectra of each layer of the gastrointestinal wall were collected from surgical specimens of the human rectum. Based on collected spectral data, principal component analysis was performed to determine the ENS. Subsequently, the Raman spectra of HSCR sections were analyzed. RESULTS: Molecular structures of the gastrointestinal wall were characterized by Raman spectroscopy. Raman spectroscopy could discriminate between ganglion and muscle layers, and the spectra of the border between muscle layers in the aganglionosis were collagen-associated peaks. Either absence on presence of ENS was also confirmed in HSCR material. CONCLUSIONS: Label-free detection of the ENS was successfully demonstrated using Raman spectroscopy. Since this is a preliminary study, the strategy which may contribute to differentiate between ganglionic and aganglionic segments using noninvasive techniques in HSCR should be evaluated by prospective studies in near future.

A New Era in Diagnostic Ultrasound, Superb Microvascular Imaging: Preliminary Results in Pediatric Hepato-Gastrointestinal Disorders.

Introduction Superb microvascular imaging is a new ultrasound image processing technique that uses advanced clutter suppression to extract flow signals from vessels and which helps us visualize very small vascular structures that were not previously visible without the use of a contrast agent. We herein analyzed the usefulness of superb microvascular imaging in the diagnosis of hepato-gastrointestinal disorders in pediatric patients. Materials and Methods Fifty-six pediatric patients who underwent a total of 81 superb microvascular imaging examinations with an Aplio 300 ultrasound system (Toshiba Medical Systems, Tokyo, Japan) were enrolled in this study. The subjects underwent conventional ultrasound examinations, including Doppler imaging followed by superb microvascular imaging. The superb microvascular imaging findings and standard imaging were compared. All of the examinations were performed without sedation. Results The average age of the patients (male, n = 38; female, n = 18) was 4 years. The clinical diagnoses included hepatobiliary disorders (n = 29), acute appendicitis (n = 10), and other intestinal disorders (n = 17). The target organs for superb microvascular imaging were the liver, appendix, rectum, intestine, gallbladder, and lymph node. In most of the patients, superb microvascular imaging achieved the excellent visualization of microvascular structures, revealing abnormal vasculature in 21 out of 46 (45.7%) examinations of the liver, 9/9 (100%) examinations of the appendix, 0/11 (0%) examinations of the rectum, 9/11 (81.8%) examinations of the intestine, 0/1 (0%) examinations of the gallbladder, and 3/3 (100%) examinations of the lymph nodes. Superb microvascular imaging was superior to Doppler imaging for depicting the microvascular structures. Conclusions Superb microvascular imaging is especially useful for depicting the microvascular flow and can aid in the diagnosis and treatment planning for pediatric patients with hepato-gastrointestinal disorders.

Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome.

BACKGROUND: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS. OBJECTIVE: A 6-month-old girl presented with café-au-lait spots, short stature, central obesity, a moon face, and hypertension. Endocrinological tests and imaging studies led to the diagnosis of ACTH-independent Cushing syndrome due to bilateral adrenal hyperplasia induced by MAS. "Three-quarters adrenalectomy", namely right-sided total adrenalectomy and left-sided half adrenalectomy, was carried out. An activating mutation of the GNAS1 gene (p.Arg201Cys) was identified in the adrenal tissues. Since the operation, our patient has been in a state of clinical remission for more than 2 years. CONCLUSION: Our original surgical intervention, three-quarters adrenalectomy, may be a new treatment option for Cushing syndrome associated with MAS.

Remission of primary low-grade gastric lymphomas of the mucosa-associated lymphoid tissue type in immunocompromised pediatric patients.

We report the remission of primary gastric lymphoma of the mucosa-associated lymphoid tissue (MALT) type in two immunocompromised pediatric patients. Patient 1, a 14-year-old boy in an immunocompromised state of unknown cause, complained of repeated abdominal pain. Examinations revealed gastric MALT with local invasion and lymph node involvement. Serum anti-Helicobacter pylori (H pylori) antibody was positive. H pylori eradication was abandoned due to its adverse effects. The MALT lesion spontaneously regressed over the next 24 months without any treatment for lymphoma. Patient 2, a 6-year-old boy, underwent cord blood transplantation for the treatment of adrenoleukodystrophy. He was administered immunosuppressants for graft-versus-host disease after transplantation. Nausea and hematochezia appeared and further examinations revealed gastric MALT with H pylori gastritis. Treatment consisting of medication for the H pylori infection alone eradicated the H pylori and completely resolved the patient's MALT lesion, as well. Patients 1 and 2 were followed up over periods of 10 years and 3 years, respectively, without any signs of relapse. In conclusion, gastric lymphoma of the MALT type can be cured by conservative treatment even in immunocompromised pediatric patients.

Destructive granuloma derived from a liver cyst: a case report.

We herein report the case of an idiopathic liver cystic mass which aggressively infiltrated the thoraco-abdominal wall. A 74-year-old woman who had a huge cystic lesion in her right hepatic lobe was transferred to our hospital for further examinations. Imaging studies revealed a simple liver cyst, and the cytological findings of intracystic fluid were negative. She was followed up periodically by computed tomography (CT) scans. Seven years later, she complained of a prominence and dull pain in her right thoraco-abdominal region. CT revealed an enlargement of the cystic lesion and infiltration into the intercostal subcutaneous tissue. We suspected the development of a malignancy inside the liver cyst such as cystadenocarcinoma, and she therefore underwent surgery. A tumor extirpation was performed, including the chest wall, from the 7th to the 10th rib, as well as a right hepatic lobectomy. Pathologically, the lesion consisted of severe inflammatory change with epithelioid cell granuloma and bone destruction without any malignant neoplasm. No specific pathogens were evident based on further histological and molecular examinations. Therefore the lesion was diagnosed to be a destructive granuloma associated with a long-standing hepatic cyst. Since undergoing surgery, the patient has been doing well without any signs of recurrence.

The mean transit time and functional image in asialoglycoprotein receptor scintigraphy: a novel modality for evaluating the regional dynamic function of hepatocytes.

UNLABELLED: In this study, we attempted to evaluate the regional dynamic function of hepatocytes by introducing unique parameters in (99m)Tc-diethylenetriaminepentaacetic acid-galactosyl-human serum albumin (99m)Tc-GSA) scintigraphy. (99m)Tc-GSA scintigraphy provides valuable information for the receptor population density. However, the conventional indices are the results of the analyses of 2 fixed points and, as a result, it is not possible to accurately estimate the regional dynamic function. METHODS: We performed (99m)Tc-GSA scintigraphy 100 times on a total of 54 pediatric patients. The average age at examination was 7.4 +/- 5.8 y. Ninety-one of the 100 scintigraphy cases were available for this study. We converted the time-activity curve for the liver of (99m)Tc-GSA to a horizontal mirror image curve, and, on the basis of the height-over-area method, calculated the mean transit time (MTT) in each pixel and depicted the functional image as unique parameters, which were thus compared with the conventional indices. For these parameters, we used the time-activity curve for only the liver. RESULTS: The whole liver MTT showed a significant correlation with both the clearance (y = 590.3x + 10.3; r = 0.51; P < 0.0001) and the receptor (y = -1,836.2x + 2,038.8; r = -0.66; P < 0.0001) indices. On the basis of the MTT in each pixel, we could depict the functional image of the liver. In actual clinical situations, the functional image was quite useful for making a visual evaluation of the dynamic distribution of (99m)Tc-GSA. The functional image indicated that, even at an extremely early stage of biliary atresia, the hepatic functional reserve might be exacerbated earlier in the right lobe than in the left lobe. CONCLUSION: The MTT and the functional image enable us to elucidate the regional dynamic function of hepatocytes both quantitatively and visually. In addition, this diagnostic modality can be used at virtually all medical institutions using a modified analytic program already in public use.

Persistent hepatitis associated with chronic active Epstein-Barr virus infection.

A previously healthy boy developed persistent hepatitis without fever or lymphoproliferative disorder. Although serologic tests were not indicative, Epstein-Barr virus (EBV) genome and transcripts were detected from the liver tissue, and real time PCR detected extremely high levels of EBV viremia. EBV infection should be included in the differential diagnoses of hepatitis of unknown etiology, even with unremarkable serologic data.

Early development of cavernomatous vasculatures in portal venous thrombosis: morphometric kinetics in rabbit model.

We tried to establish an animal model of portal venous thrombosis in order to analyze the ensuing pathological changes of the liver. An emulsion with Escherichia coli endotoxin and Lipiodol-Ultra-Fluide was injected into the portal vein of the left anterior lobe of the rabbit liver. The target lobe and portal vein were time-sequentially examined. In the experimental groups, it was found that fibrin thrombi were formed in the portal vein within 48 h after the injection and thrombi persisted for over 7 days. In an association with thrombus formation, numerous tortuously dilated vasculatures developed in the portal tract (cavernomatous vasculature) within 48 h. Both the number and the total area of the cavernomatous vasculatures increased from 2- to 3-fold more than in the control group at 72 h. The majority of proliferated vasculatures were positive for alpha-smooth muscle actin, thus suggesting that they derived from the portal venous branches. In conclusion, portal endotoxemia may be one of the pathogenetic factors of portal venous thrombosis and, in this model, the cavernomatous vasculatures rapidly developed from the portal venous branches.

Role of the transumbilical laparoscopic-assisted single-channel, single-port procedure in an interval appendectomy for pediatric mass-forming appendicitis: a preliminary retrospective analysis.

INTRODUCTION: A transumbilical laparoscopic-assisted single-channel, single-port procedure was introduced during laparoscopic interval appendectomy for mass-forming appendicitis in children. The aim of this study was to evaluate the results of the original laparoscopic interval appendectomy. METHODS: This study analyzed 31 children who underwent laparoscopic interval appendectomy using a single-channel, single-port procedure. The appendectomy was usually planned 8-12 weeks following initial conservative treatment. The procedure was a single-channel surgery using a 12-mm single port. Both a 5-mm telescope and grasper were inserted simultaneously into the single channel. The grasper held the appendix, and an extracorporeal appendectomy was performed. RESULTS: Appendectomy was planned for 29 patients, as 2 patients deviated from the protocol. The procedure was successful in 21 patients (72.4%). An accessory port was necessary in eight patients, two of whom successfully underwent laparoscopic surgery; the remaining six were converted to open appendectomy. The average length of surgery was 43 min in the single-channel, single-port procedure. No postoperative complications occurred in any patient. CONCLUSION: The single-channel, single-port procedure was successfully performed in over 70% of the patients. This preliminary retrospective analysis indicates that the procedure is safe and potentially beneficial in children with mass-forming appendicitis who require laparoscopic interval appendectomy.

Acute scrotum caused by vasitis with abscess formation in children with lower urological anomalies.

OBJECTIVES: The major causes of acute scrotum include testicular torsion, torsion of an appendix testis, and epididymo-orchitis. Recently, we experienced rare cases of acute scrotum caused by vasitis. Such a condition has not been previously reported in the literature so we summarize our patients with acute scrotum and discuss the pathogenesis of these rare cases. METHODS: Thirty-two pediatric patients were admitted to our institutions with a diagnosis of acute scrotum between 1997 and 2008. The average age of the patients was 7.1 years. We summarize and review the clinical and pathologic features of 2 patients with vasitis with abscess formation. RESULTS: The causes of acute scrotum included epididymitis, testicular torsion, and vasitis, among others. Testicular torsion was initially suspected in 23 of the patients. Twenty-three patients underwent emergency surgery, among whom 9 received orchidectomies. The initial diagnosis differed from the final diagnosis in 20 patients (62.5%). Two patients were diagnosed with vasitis. Both underwent emergency operations under a putative diagnosis of testicular torsion, and both were found to have hard tumorlike lesions in the scrotal portion during the surgery. These same 2 cases also suffered from lower urological anomalies, namely, hypospadias, posterior urethral valve, and Müllerian duct remnant. CONCLUSIONS: Based on our experience, we propose that lower urological anomalies predispose children to vasitis and subsequent abscess formation. Pathologic conditions of this type have to be considered as potential causes of acute scrotum.

Annular pancreas causing localized recurrent pancreatitis in a child: report of a case.

Annular pancreas is a rare congenital anomaly. We report a case of relapsing acute pancreatitis localized in the annulus of an annular pancreas in a young child. A 6-year-old boy complained of abdominal pain and we made a diagnosis of acute pancreatitis based on blood biochemistry results. Over the subsequent 12 months, he experienced two more pancreatitis-like attacks. Endoscopy revealed a duodenal stenosis in the second portion of the duodenum. Ultrasound, computed tomography, and magnetic resonance imaging depicted a ring of pancreatic tissue encircling the duodenum with a duct in the tissue, manifesting dilatation with a characteristic circular pattern around the duodenum. No dilatation of the dorsal pancreatic duct or pancreatic divisum was found. Based on these findings, we diagnosed acute pancreatitis localized in an annulus in an annular pancreas. This case report suggests that an annular pancreas may predispose to localized relapsing acute pancreatitis even in a child.

Congenital occurrence of solitary infantile myofibromatosis of the spleen.

Infantile myofibromatosis (IM) is a rare soft tissue tumor of infancy and childhood. We report the case of a newborn girl with an abdominal tumor discovered at 32 weeks of gestation by fetal ultrasound. She underwent a laparotomy for an unexplained abdominal mass 20 days after birth. The tumor originated from the spleen and was removed by splenectomy. There were no other abnormal findings on diagnostic modalities. Based on the histological examinations, the tumor was diagnosed as an IM. Although extremely rare during the neonatal period, solitary type IM should be considered as a differential diagnosis of the splenic tumor.

Reconstruction of a pelvic floor defect using a pedicled tensor fascia lata flap: a new technique to prevent radiation injury for pediatric patients with advanced pelvic tumors.

BACKGROUND: In the treatment of pelvic tumors, pelvic floor defects owing to a wide excision tend to increase the occurrence of such morbidities as radiation injury. The reconstruction of these defects would minimize the risk of such morbidities. Authors introduce a new technique for repairing a pelvic floor defect using a tensor fascia lata flap. METHODS: Two boys, 4 years old and 10 months old, presenting with pelvic rhabdomyosarcoma underwent a tumor extirpation associated with a wide excision of the pelvic organs. After the removal of the tumor, a tensor fascia lata flap was designed on the right thigh. The pedicled rotation flap was subcutaneously elevated, guided to the intraperitoneal cavity, and was fixed to cover the superior aperture of the lesser pelvis. RESULTS: The flaps functioned well, and postoperative radiation therapies consisting of 45 and 41.4 Gy to the lesser pelvic cavity were carried out without any complications. As a result, the necessary postoperative protocol combination therapies could be successfully performed in a timely manner. CONCLUSION: The pedicled tensor fascia lata flap is considered to be an alternative option for the stable repair of pelvic floor defects to prevent radiation injury.

Situs ambiguous with gastric cancer: report of a case.

Situs ambiguous is an unpredictable anomaly characterized by disorder of the organ arrangement in the chest and abdomen. We report a case of situs ambiguous found incidentally in a 73-year-old man with gastric cancer. Preoperative imaging showed polysplenia, a bridging liver, a midline gall bladder, and pancreatic divisum. The vessels around the stomach were clearly shown by computed tomography with multiplanar reconstruction (MPR). Computed tomography with MPR proved a good diagnostic tool for identifying both the abdominal vessels and the location of the organs. Based on a precise evaluation of this unusual anatomy, we performed distal gastrectomy with dissection of the regional lymph nodes.

Possible protection of sinusoidal endothelial cells by endothelin B receptor during hepatic warm ischemia-reperfusion.

PURPOSE: Endothelins (ETs) are important regulators of the hepatic microcirculation. We investigated the pure biological roles of endothelin B receptors (ETB-Rs) on hepatic warm ischemia-reperfusion (I/R) injury using ETB-R deficient spotting lethal (sl) rats. METHODS: Homozygous (sl/sl) and wild-type (+/+) rats were exposed to 60 min of 92% partial hepatic ischemia and then were killed at 2, 6, and 24 h, and 3 and 7 days after reperfusion. We measured the serum alanine aminotransferase (ALT) levels to assess hepatocyte injury, and the serum hyaluronic acid (HA) levels and factor VIII-related antigen (FVIIIRAg) staining to assess sinusoidal endothelial cell (SEC) injury. We also measured the concentrations of ET-1 and nitrite (NO2-) and nitrate (NO3-) of liver tissue samples. RESULTS: Although no significant difference was observed in the ALT levels, the HA levels were significantly elevated at an early stage after reperfusion in the sl/sl rats. Regarding FVIIIRAg staining, positive SECs were enhanced in the sl/sl rats. The ET-1 levels were also significantly elevated at an early stage after reperfusion in the sl/sl rats. Regarding the NO2- and NO3- levels, no significant difference was observed. CONCLUSION: Endothelin B receptor was shown to have a protective effect on SECs through the inhibition of ET-1 during hepatic warm I/R injury.