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A 7-year-6-month-old female was diagnosed with a pelvic malignant peripheral nerve sheath tumor and lymph node metastases. Tumorectomy was performed after four cycles of chemotherapy. A 33-mm cystic lesion was observed around the left iliac muscle after three cycles of postoperative chemotherapy, and proton beam therapy (PBT) was recommended. She was referred for absorbable spacer (AS) placement. The left ovarian appendage (OA) was resected due to the direct tumor infiltration. The right OA was fixed to the uterosacral ligament. The AS was fixed to the lateral pelvis. The PBT (70.3 Gy relative biological effectiveness) was performed successfully with the AS, and she also had the reproducing possibility due to prevention of severe irradiation damage of the right OA. AS eliminated the surgical removal of spacers and enabled us high-dose PBT for residual tumor without severe irradiation damage including infertility.

Pleuropulmonary blastoma (PPB) is a rare tumor that arises from mesenchymal cells of the lung or pleura. PPB is classified as type I (cystic), type Ir (regressed), type II (cystic and solid), or type III (solid). Here, we report the case of a 2-year-old boy with type II PPB. The patient was treated with neoadjuvant chemotherapy, and the tumor was completely surgically resected. A DICER1 mutation was detected in the tumor specimen. The risk of recurrence is high, and long–term follow–up is required.

Pseudo-Meigs syndrome (PMS) and gliomatosis peritonei (GP) are rare conditions associated with ovarian teratomas. We report the case of an 11-year-old female patient suffering from immature ovarian teratoma with PMS and GP. Enhanced computed tomography (CT) revealed a tumor measuring 240 × 150 × 100 mm in the lower abdomen, ascites, and right pleural effusion. Before the operation, the right pleural effusion increased and required chest tube drainage. Right adnexectomy was performed, and peritoneal nodules were detected during surgery. A biopsy was performed and pathological examination revealed a right immature ovarian teratoma (Grade 3) and glial tissue (Grade 0), thus confirming the diagnosis of GP. Postoperatively, ascites and pleural effusion disappeared, confirming the diagnosis of PMS. Eight months after the operation, a metachronous contralateral mature ovarian teratoma developed, for which fertility-sparing surgery was performed. Therefore, long-term follow-up is required in this patient.

Abstract Aims/Introduction As the extensor digitorum brevis muscle is a small muscle in the most distal part of the legs, its atrophy (EDBA) might reflect symmetric polyneuropathy (SPN). We aimed to clarify the EDBA‐related factors and the usefulness of bilateral EDBA detection for diagnosing SPN, especially diabetic SPN (DSPN). Materials and Methods In 1,893 participants from the Japanese general population (investigation I) and 133 established diabetes patients (investigation II), relationships between EDBA and various factors including the traditional sitting style called “seiza’” (kneeling and sitting on one’s heels) were investigated. Analyses were carried out by univariate and multivariate analysis, and SPN or DSPN was diagnosed by the criteria of “Probable DSPN” of the Toronto Consensus. The validity of EDBA detection for diagnosing SPN/DSPN was also evaluated. Results Investigation I: EDBA was more prevalent in women than men (44% vs 20%). Significant EDBA‐related factors were aging and seiza habit regardless of sex. Male‐specific EDBA‐related factors were SPN and known diabetes. In men without seiza habit, EDBA was significantly associated with SPN regardless of diabetes, so EDBA seemed to be a useful sign for diagnosing SPN/DSPN. Investigation II: In men, DSPN was more prevalent in the EDBA group than the non‐EDBA group (71% vs 33%). Sensitivity, specificity, positive predictive value and kappa coefficient of EDBA detection for diagnosing DSPN were 44, 87, 67% and 0.323, showing fair agreement. Conclusions EDBA detection might be a useful method to screen for distal symmetric polyneuropathy, such as DSPN in men, although the exclusion of individuals with seiza habit is necessary to improve accuracy.

Abstract Diagnosis of biliary atresia (BA) can involve uncertainties. In the present prospective multicenter study, we considered whether urinary oxysterols represent a useful marker for diagnosis of BA in Japanese children. Subjects under 6 months old at 7 pediatric centers in Japan were prospectively enrolled, including patients with cholestasis and healthy controls (HC) without liver disease. Patients with cholestasis constituted 2 groups representing BA patients and others with cholestasis from other causes (non-BA). We quantitatively analyzed 7 oxysterols including 4β-, 20(S)-, 22(S)-, 22(R)-, 24(S)-, 25-, and 27-hydroxycholesterol by liquid chromatography/electrospray ionization-tandem mass spectrometry. Enrolled subjects included 14 with BA (median age 68 days; range 26–170) and 10 non-BA cholestatic controls (59; 14–162), as well as 10 HC (57; 25–120). Total urinary oxysterols were significantly greater in BA (median, 153.0 μmol/mol creatinine; range 24.1–486.7; P

There are discrepancies regarding the clinical impact of age at Kasai portoenterostomy (KP) on surgical outcomes. Hence, we re‐assessed the clinical significance of age at KP. We analyzed 224 patients with type III (atresia of bile duct at the porta hepatis) biliary atresia at Tohoku University Hospital. We classified patients into two groups: KP at ≤60 days of age (group TE) and >60 days of age (group TL). Group TE was subdivided into three groups (TE1, TE2, and TE3) according to age at time of surgery. Subsequently, 2,643 patients in the Japanese Biliary Atresia Registry were classified similarly. Background and surgical outcomes were compared. Of the 2,643 cases, 323 patients who underwent revision KP were analyzed separately. The jaundice clearance rates (JCRs) were 81.4%, 100%, 64.7%, 83.0%, and 65.2% of patients in the TE, TE1, TE2, TE3, and TL groups, respectively. The 15‐year native liver survival rates of patients in the TE, TE1, TE2, TE3, and TL groups were 62.2%, 88.9%, 33.9%, 64.4%, and 42.9%, respectively. The 30‐year native liver survival rates of patients in the TE, TE1, TE2, TE3, and TL groups were 38.6%, 74.1%, 25.4%, 35.8%, and 31.7%, respectively. The JCRs were 66.2%, 69.4%, 64.1%, 66.7%, and 59.7% for patients in groups JE, JE1, JE2, JE3, and JL, respectively. The 15‐year native liver survival rates were 48.1%, 56.7%, 43.9%, 48.9%, and 37.2% for patients in groups JE, JE1, JE2, JE3, and JL, respectively. The JCRs following revision KP were higher in the JE1 group than in the other groups. Conclusion: Early KP was associated with favorable outcomes except in patients aged 31‐45 days.

Abstract Background Although cancer occurrence following surgery for biliary atresia has gradually increased, the development of cholangiocarcinoma in a native liver survivor of biliary atresia is extremely rare. Case presentation A 3-month-old female patient with the correctable type of biliary atresia underwent a cystoduodenostomy. At 16 years of age, she underwent multiple surgeries including lysis of intestinal adhesions, ileostomy, and gastrojejunostomy at another hospital. At 54 years of age, she underwent lithotomy at the porta hepatis, resection of the residual cystic bile duct with gallbladder, and hepaticojejunostomy in Roux-en-Y fashion. As she approached the age of 63, her computed tomography scan showed no liver tumors. In the following year, she developed cholangiocarcinoma at the porta hepatis and underwent chemotherapy. However, the cancer progressed, and she died before she reached the age of 64 years. Conclusions Cholangiocarcinoma is extremely rare in patients with biliary atresia. However, physicians should follow up patients with biliary atresia as closely as possible, as malignant tumors secondary to biliary atresia may increase in number in the near future because of the growing number of long-term survivors with biliary atresia.

Abstract Aims/Introduction The prevalence of clinical polyneuropathies (ClinPNs) or nerve conduction abnormality (NCA) in the groups stratified by glucose tolerance, individual components of metabolic syndrome (metabolic syndrome [MetS] components: hypertension, dyslipidemia, obesity) and MetS defined by the International Diabetes Federation consensus was investigated in the Japanese general population. Factors associated with ClinPN and NCA were also identified. Materials and Methods A total of 625 examinees of regional medical checkup programs were recruited to this cross‐sectional study. ClinPNs were diagnosed by the Toronto Consensus. NCA was judged by at least one bilateral abnormality of sural nerve action potential amplitude or conduction velocity measured by a point‐of‐care nerve conduction device (DPNCheck). Clinical factors associated with ClinPNs or NCA were examined by multiple logistic regression analysis. Deteriorating factors of sural nerve action potential amplitude or conduction velocity values were also investigated in participants without diabetes (n = 550). Results As for glucose tolerance, ClinPNs or NCA significantly increased only in known diabetes patients compared with other groups. There was no difference between prediabetes and the normal group. The prevalence of ClinPNs and NCA was not significantly related to MetS or MetS’ components, except for frequent NCA in obesity. The factors significantly associated with both NCA and ClinPNs were smoking and known diabetes. In non‐diabetic participants, aging, tall height and hypertension were significant deteriorating factors of nerve conduction functions. Conclusions In Japan, ClinPNs and NCA were increased in known diabetes patients, but did not increase in participants with prediabetes, MetS and MetS’ components. Smoking and known diabetes were factors significantly associated with ClinPNs or NCA. Hypertension might be a modifiable deteriorating factor of nerve function.

Pheochromocytoma (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors that arise from chromaffin cells. We report the case of an 11-year-old boy with no history of hypertension who presented with an abdominal mass arising from the retroperitoneum. During laparoscopic surgery, the patient developed a hypertensive crisis with a peak systolic blood pressure of over 270 mmHg, although we were able to continue to perform laparoscopic resection. Even if no concomitant symptoms due to catecholamine production are observed before surgery, as in this case, blood pressure may fluctuate during surgery. Intraoperative and postoperative management should be considered in cooperation with anesthesiologists.

A 10-month-old girl who had previously undergone Kasai portoenterostomy (KP) for biliary atresia was admitted because of recurrent jaundice. Intrahepatic bile duct (IHBD) dilation was observed in the lateral segment close to the umbilical portion of the portal vein on ultrasonography and computed tomography. Although percutaneous transhepatic biliary drainage by a radiologist alleviated jaundice, internal fistula formation, which was subsequently attempted, was unsuccessful due to the narrow and complicated IHBD morphology. Therefore, side-to-side cholangiojejunostomy between the dilated IHBD and jejunum of the Roux-en-Y limb was performed using intraoperative interventional radiology techniques. The patient's postoperative course was uneventful. In patients with recurrent jaundice after KP, especially that associated with solitary IHBD dilatation, a high success rate of achieving good bile flow can be expected using current techniques.

A two-year-old girl presented with an abdominal mass, abdominal pain, and fever. A quail egg-sized elastic-hard mass was palpable in the upper left abdomen. The patient's growth was impaired. Laboratory data showed an inflammatory response and elevated pancreatic enzymes. The mass showed a cystic structure adjacent to the caudal side of the bifid tail of the pancreas. A fluid collection was observed around the spleen. Surgery was planned under the diagnosis of pancreatic foregut cystic malformation (FCM) associated with a bifid pancreatic tail. However, as the inflammation worsened, parenteral nutrition (PN) was introduced and cyst drainage was performed first, obtaining 10–14 mL/day, and her symptoms subsided. Cyst drainage continued for six weeks at home. Laparoscopic surgery was performed 47 days after the initiation of drainage. Cystography showed communication between the cyst and the slightly dilated pancreatic duct of the bifid tail during surgery. A partial pancreatectomy with cystectomy was performed. The diagnosis of FCM originating from the pancreas, associated with the bifid tail, was confirmed. The postoperative course was uneventful, and the patient was discharged eight days post-surgery. Pancreatic FCM with a bifid pancreatic tail is rare, and we successfully treated it using minimally invasive surgery.

Benign retroperitoneal teratomas are relatively rare tumors that usually progress slowly and are found in newborns and young adults. Here, we report a case in which a prenatally diagnosed retroperitoneal tumor rapidly increased in diameter from 55 mm to 90 mm during the neonatal period. The tumor was removed while preserving the surrounding organs. Moreover, the patient's postoperative course was uneventful. Pathological examination revealed an immature teratoma with no malignant findings. Notably, even benign neonatal teratomas may exhibit rapid growth of their cystic components after birth.

Bronchogenic cysts are congenital malformations caused by abnormal lung buds. Almost all bronchogenic cysts are found in the thoracic cavity but rarely in the neck. We report a rare case of a cervical bronchogenic cyst diagnosed in the fetal stage. A male baby with a cervical cyst detected at 20 weeks of gestation was suspected of having a 4-cm cystic lymphatic malformation and was subsequently delivered via normal vaginal delivery at 37 weeks. At birth, no symptoms, apart from the palpable elastic tumor mass (3 cm in diameter) on the left side of the neck, were observed. He was followed-up for observation. The cyst contracted at 4 months of age. However, at one year and 4 months of age, the cyst started to grow again without symptomatic manifestations. Cystectomy was performed at 1 year and 11 months of age, and the cyst was diagnosed histologically as a bronchogenic cyst. The postoperative course was uneventful, except for transient recurrent nerve paralysis, which improved 4 months after surgery. No signs of cyst recurrence were observed at the 1-year follow-up. Our case shows that bronchogenic cysts should be considered as a differential diagnosis of cervical cystic disease found before birth. Keywords: Bronchogenic cysts, Prenatal, Cervical

We report the case of a 10-day old boy with biliary atresia (BA) who was delivered by caesarean section at 33 weeks 4 days of gestation (birth weight, 2135 g). At birth, his direct bilirubin level was high, and stools were light yellow. Abdominal ultrasonography showed no triangular cord sign, and duodenal fluid examination showed no bile. We performed a Kasai procedure (KP) 27 days after birth. His liver biopsy showed intrahepatic bile duct reduction. No bile excretion occurred postoperatively. We performed a redo KP 83 days after birth. Postoperative bile excretion was good, and his jaundice promptly resolved. The patient's liver biopsy showed bile duct development. Jaundice recurred at 8 months of age, and brain-dead-donor liver transplantation was required. The patient died of liver failure at 23 months of age.Surgery for BA during the neonatal period is usually effective, and the results of re-operation in cases with poor postoperative biliary excretion are poor. Here, we present a novel case that illustrates the progression and timing of the pathological hepatic changes in BA and consider the indications for and timing of re-operation in preterm infants. Keywords: Biliary atresia, Kasai procedure, Bile duct diseases, Premature, Reoperation

Congenital hyperinsulinism is a rare condition and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians and pediatric surgeons. These guidelines cover a range of aspects, including general features of congenital hyperinsulinism, diagnostic criteria and tools for diagnosis, first-and second-line medical treatment, criteria for and details of surgical treatment, and future perspectives. These guidelines were generated as a collaborative effort between The Japanese Society for Pediatric Endocrinology and The Japanese Society of Pediatric Surgeons and followed the official procedures of guideline generation to identify important clinical questions, perform a systematic literature review (April 2016), assess the evidence level of each paper, formulate the guidelines and obtain public comments. [ABSTRACT FROM AUTHOR]

Objective To evaluate the sensitivity and specificity of a stool color card used for a mass screening of biliary atresia conducted over 19 years. In addition, the age at Kasai procedure and the long-term probabilities of native liver survival were investigated. Study design From 1994 to 2011, the stool color card was distributed to all pregnant women in Tochigi Prefecture, Japan. Before or during the postnatal 1-month health checkup, the mothers returned the completed stool color card to the attending pediatrician or obstetrician. All suspected cases of biliary atresia were referred for further examination. Diagnosis was confirmed by laparotomy or operative cholangiography for high-risk cases before the Kasai procedure. Patients with biliary atresia were followed from the date of their Kasai procedure until liver transplantation, death, or October 31, 2013, whichever comes sooner. Results A total of 313?230 live born infants were screened; 34 patients with biliary atresia were diagnosed. The sensitivity and specificity of stool color card screening at the 1-month check-up was 76.5% (95% CI 62.2-90.7) and 99.9% (95% CI 99.9-100.0), respectively. Mean age at the time of Kasai procedure was 59.7 days. According to Kaplan-Meier analysis, the native liver survival probability at 5, 10, and 15 years was 87.6%, 76.9%, and 48.5%, respectively. Conclusions The sensitivity and specificity of the stool color card have been demonstrated by our 19-year cohort study. We found that the timing of Kasai procedure and long-term native liver survival probabilities were improved, suggesting the beneficial effect of stool color card screening. [ABSTRACT FROM AUTHOR]

Inhibition of cGMP-specific phosphodiesterase 5 (PDE5) ameliorates pathological cardiac remodeling and has been gaining attention as a potential therapy for heart failure. Despite promising results in males, the efficacy of the PDE5 inhibitor sildenafil in female cardiac pathologies has not been determined and might be affected by estrogen levels, given the hormone's involvement in cGMP synthesis. Here, we determined that the heart-protective effect of sildenafil in female mice depends on the presence of estrogen via a mechanism that involves myocyte Enos--dependent cGMP synthesis and the cGMP-dependent protein kinase Iα (PKGIα). Sildenafil treatment failed to exert antiremodeling properties in female pathological hearts from Gαq-overexpressing or pressure-overloaded mice after ovary removal; however, estrogen replacement restored the effectiveness of sildenafil in these animals. In females, sildenafil-elicited myocardial PKG activity required estrogen, which stimulated tonic cardiomyocyte cGMP synthesis via an eNOS/soluble guanylate cyclase pathway. In contrast, eNOS activation, cGMP synthesis, and sildenafil efficacy were not estrogen dependent in male hearts. Estrogen and sildenafil had no impact on pressure-overloaded hearts from animals expressing dysfunctional PKGIα, indicating that PKGIα mediates antiremodeling effects. These results support the importance of sex differences in the use of PDE5 inhibitors for treating heart disease and the critical role of estrogen status when these agents are used in females. [ABSTRACT FROM AUTHOR]

Reactive oxygen species (ROS) have been suggested to regulate receptor activator of nuclear factor-κB ligand (RANKL)-stimulated osteoclast differentiation. Stimulation of wild-type mouse bone marrow monocyte/macrophage lineage (BMM) cells by RANKL down-regulated NADPH oxidase 2 (Nox2) mRNA expression by half. RANKL reciprocally increased Nox1 mRNA levels and newly induced Nox4 transcript expression. BMM cells from Nox1 knockout (Nox1−/−) as well as Nox2−/− mice generated ROS in response to RANKL and differentiated into osteoclasts in the same way as wild-type BMM cells, which was assessed by the appearance of tartrate-resistant acid phosphatase-positive, multinucleated cells having the ability to form resorption pits and by the expression of osteoclast marker genes. A small interfering RNA (siRNA) targeting Nox1 or Nox2 failed to inhibit the RANKL-stimulated ROS generation and osteoclast formation in wild-type cells, whereas Nox1 and Nox2 siRNAs significantly suppressed the ROS generation and osteoclast formation in Nox2−/− and Nox1−/− cells, respectively. We also confirmed that Nox4 siRNA did not affect the RANKL-dependent events in Nox2−/− cells, whereas p22phox siRNA suppressed the events in both wild-type and Nox1−/− cells. Collectively, our results suggest that there may be a flexible compensatory mechanism between Nox1 and Nox2 for RANKL-stimulated ROS generation to facilitate osteoclast differentiation. [Copyright &y& Elsevier]

Helicobacter pylori infection has been suggested to stimulate expression of the NADPH oxidase 1 (Nox1)-based oxidase system in guinea pig gastric epithelium, whereas Nox1 mRNA expression has not yet been documented in the human stomach. PCR of human stomach cDNA libraries showed that Nox1 and Nox organizer 1 (NOXO1) messages were absent from normal stomachs, while they were specifically coexpressed in intestinal- and diffuse-type adenocarcinomas including signet-ring cell carcinoma. Immunohistochemistry showed that Nox1 and NOXO1 proteins were absent from chronic atrophic gastritis (15 cases), adenomas (4 cases), or surrounding tissues of adenocarcinomas (45 cases). In contrast, Nox1 and its partner proteins were expressed in intestinal-type adenocarcinomas (19/21 cases), diffuse-type adenocarcinomas (15/15 cases), and signet-ring cell carcinomas (9/9 cases). Confocal microscopy revealed that Nox1, NOXO1, Nox activator 1, and p22phox were predominantly associated with Golgi apparatus in these cancer cells, while diffuse-type adenocarcinomas also contained cancer cells having Nox1 and its partner proteins in their nuclei. Nox1-expressing cancer cells exhibited both gastric and intestinal phenotypes, as assessed by expression of mucin core polypeptides. Thus, the Nox1-base oxidase may be a potential marker of neoplastic transformation and play an important role in oxygen radical- and inflammation-dependent carcinogenesis in the human stomach. [Copyright &y& Elsevier]