Ryuichi Shimono

HDlive imaging of meconium peritonitis.

Prenatal two-dimensional (2D) sonographic diagnostic criteria for meconium peritonitis include polyhydramnios, bowel dilatation, abdominal calcification or echogenic mass and fetal ascites1. However, its diagnosis is still challenging, not only because these findings observed on ultrasound do not present simultaneously2, but also because the clinical picture varies according to the underlying etiology, the interval between intestinal perforation and its finding on ultrasound, and subsequent inflammatory reaction3. A 33-year-old Japanese primigravida was referred to our hospital at 32 + 2 weeks’ gestation because of polyhydramnios and fetal bowel dilatation. 2D sonography (Voluson E8, GE Medical Systems, Zipf, Austria) revealed a single breech fetus with biometry consistent with gestational age and an amniotic fluid index of 9.04 cm. Cystic dilatation of the intestine with thick hyperechogenic wall denoting calcification and fine hypoechoic granular contents were observed in the fetal abdomen (Figure 1).

Histomorphometry of ectopic mineralization using undecalcified frozen bone sections

To investigate the correlation between mineral formation and enhanced expressions of some proteins using undecalcified frozen bone sections. Histological studies have revealed that some proteins, such as BMP2, BMPR1A, and Connexin 43, are expressed in and around sites of ectopic ossification. However, the relationship between the expressed proteins considered to be associated with the ossification and mineral formation in vivo is not clear. Ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1)‐mutant spinal hyperostotic TWY mice and ICR mice as controls were euthanized after calcein labeling, and undecalcified frozen sections were obtained from the middle thoracic spine. Intervertebral disc areas were examined histologically and by measuring calcein‐labeled areas and areas showing immunoreactivity for BMP2, BMPR1A, and Connexin 43. Calcein‐labeled areas, indicating mineralization in the ectopic mineralization sites, were significantly larger in the mutant mice than in controls. The expression of Connexin 43 was elevated in the annulus fibrosus. Increases in the calcein‐labeled areas was not correlated with increases in the areas showing immunoreactivity for Connexin 43 in the annulus fibrosus. There was no statistical correlation between enhanced immunohistochemical expression and elevated calcein‐labeled areas. By applying the morphometrical analysis method using undecalcified frozen sections to ENPP1‐mutant mice, quantitative evaluation of the mineralization and proteins expressed in the surrounding area in the same animal became possible.

Case of pediatric traditional serrated adenoma resected via endoscopic submucosal dissection

Traditional serrated adenoma (TSA) is a type of serrated polyp of the colorectum and is thought to be a precancerous lesion. There are three types of serrated polyps, namely, hyperplastic polyps, sessile serrated adenomas/polyps, and TSAs. TSA is the least common of the three types and accounts for about 5% of serrated polyps. Here we report a pediatric case of TSA that was successfully resected by endoscopic submucosal dissection (ESD). This rare case report describes a pediatric patient with no family history of colonic polyp who was admitted to our hospital with hematochezia. On colonoscopy, we found a polypoid lesion measuring 10 mm in diameter in the lower rectum. We selected ESD as a surgical option for en bloc resection, and histopathological examination revealed TSA. The findings in this case suggest that TSA with precancerous potential can occur in children, and that ESD is useful for treating this lesion.

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung’s disease

AbstractPurposeHirschsprung’s disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach’s and Meissner’s plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. MethodsA Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer.ResultsAfter exome sequencing and the annotation of mutations, we identified co-segregated mutations with sequential filtering steps via a standard protocol. Eight mutations were identified: two on chromosome 10 and six on chromosome 11. We used pathogenicity prediction tools such as Genomic Evolutionary Rate Profiling, SIFT, and PolyPhen2 to predict the impact of mutations on the protein activity. S922Y, a novel mutation of RET, was identified as a likely causal mutation. In addition, a mutation of rs2435357T, known as enhancer of RET located in intron 1 of RET, was detected in this family.ConclusionThe coexistence of RET mutations in both the exon (S922Y) and intron1 (rs2435357T) indicated a risk of HSCR in this family.

Hypoxic-Ischemic Encephalopathy-Associated Liver Fatty Degeneration and the Effects of Therapeutic Hypothermia in Newborn Piglets

Background: Although liver can be injured under the hypoxic-ischemic encephalopathy (HIE) condition, there is currently no histopathological evidence. Therapeutic hypothermia is used to protect the brain; however, the therapeutic potential for concomitant liver injury is unknown. Objectives: This study aimed to histopathologically prove HIE-associated liver injury and to investigate the influence of therapeutic hypothermia in a newborn piglet HIE model. Methods: Eighteen newborn piglets were divided into 3 groups: control (n = 4), HIE (n = 8), and therapeutic hypothermia (n = 6) groups. The hypoxic insult was induced by decreasing the fraction of inspiratory oxygen from 21 to 2-4% over 40 min while monitoring cerebral blood volume and cerebral hemoglobin oxygen saturation. For therapeutic hypothermia, whole-body cooling at 33-34°C was administered for 24 h after the hypoxic insult. We hematologically and histopathologically investigated the liver injury in all groups. Results: Alanine transaminase and lactate dehydrogenase levels in the HIE group were significantly elevated compared with those in the control group. Micro-lipid droplet accumulation in the periportal zone, but not in the perivenous zone, was significantly greater in the HIE group than in the control group and significantly smaller in the therapeutic hypothermia group than in the HIE group. Conclusions: We demonstrated that micro-lipid droplet accumulation in the cytoplasm of hepatocytes in the periportal zone occurs under the HIE condition and that this accumulation is suppressed by therapeutic hypothermia.

Nutritional Benefit of Recycling of Bowel Content in an Infant With Short Bowel Syndrome

Journal of Pediatric Gastroenterology and Nutrition Publish Ahead of Print DOI: 10.1097/MPG.0000000000001630 Nutritional Benefit of Recycling of Bowel Content in an Infant with Short Bowel Syndrome Aya Tanaka, M.D., Ph.D., Haruyuki Nakayama-Imaohji, Ph.D., Ryuichi Shimono, M.D., Ph.D., Motoo Suzuki, Ph.D., Takayuki Fujii, M.D., Hiroyuki Kubo, M.D., Saneyuki Yasuda, M.D., Ph.D., Kousuke Koyano, M.D., Ph.D., Shinji Nakamura, M.D., Ph.D., Naomi Katsuki, M.D., Ph.D., Tomomi Kuwahara, M.D., Ph.D. 1. Department of Pediatric Surgery, Faculty of Medicine, Kagawa University 2. Department of Microbiology, Faculty of Medicine, Kagawa University 3. Maternal Perinatal Center, Faculty of Medicine, Kagawa University 4. Department of Pediatrics, Faculty of Medicine, Kagawa University 5. Department of Diagnostic Pathology, Faculty of Medicine, Kagawa University

Surgery for gastroesophageal reflux disease with Gaucher disease type 2

Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). The present patient was a 136‐day‐old Japanese boy with Gaucher disease type 2. Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, joint contractures, hepatosplenomegaly and thrombocytopenia, but he also had GERD. Accordingly, a Nissen fundoplication with gastrostomy was performed. There was no vulnerability of organs, easy bleeding or difficulty of maintaining the visual field because of hepatosplenomegaly during operation. In the perioperative period, there was no prolonged wound healing or infection. GERD was improved. In the near future, the number of long‐term survivors of Gaucher disease will increase due to improvements in medical therapy. Therefore, it is expected that the number of patients requiring fundoplication will also increase. In patients with successful medical therapy, surgical fundoplication can be safely and effectively performed.

Is yolk sac tumor related to the pathophysiology of low birthweight

An 8‐year‐old Japanese girl was admitted with an ovarian yolk sac tumor. Regarding birth history, the patient had been delivered by cesarean section at 25 weeks of gestation with a birthweight of 711g. She had required neonatal intensive care including oxygenation, various medications, and tests. After surgery and chemotherapy, there was no recurrence for 2 years, at the time of writing. Yolk sac tumor, which is a malignant germ cell tumor, is rare in children. Although the cause and risk factors are unclear, it has been reported that malignant germ cell tumors in childhood have been associated with pathophysiology at birth. Given that premature infants are more likely to survive due to advances in perinatal care, it is expected that such cases will increase in the near future. We suggest that children born prematurely require careful follow up.

Paediatric splenic and rectovesical pouch abscesses caused by Eggerthella lenta

Paediatric splenic abscesses are rare, but can be fatal. An 8-year-old boy developed recurrent fever and abdominal pain 5 months after undergoing an appendectomy. A CT scan showed splenic and rectovesical pouch abscesses. The patient was successfully treated with antibiotics, and laparoscopic drainage and debridement of pus from the rectovesical pouch abscess. Eggerthella lenta was cultured from the latter lesion. Early diagnosis and treatment resulted in the satisfactory resolution of the infection.