Genshiro Esumi

Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan

PURPOSE To identify the clinical features in diagnosis and treatment of Hirschsprungs disease (HD) associated with Down syndrome (DS), the authors retrospectively analyzed data for patients with DS from the past 3 nationwide surveys in Japan. This survey was already approved by the Japanese Society of Pediatric Surgeons. METHODS Patient data were collected in 3 phases-phase I (1978-1982), n = 47; phase II (1988-1992), n = 79; and phase III (1998-2002), n = 90. In total, data on 216 patients (5.6%) of 3852 were collected and analyzed. RESULTS The incidence of DS in patients with HD was 2.9%, 7.1%, and 8.2% in phases I, II, and III, respectively, with a corresponding male/female ratio of 5:1, 2.4:1, and 5:1. The ratio of the extent of aganglionosis was nearly consistent across all phases. In phases I, II, and III, the incidence of total colonic aganglionosis was 2.1%, 0%, and 2.2%; and that of cardiovascular anomalies, 36.1%, 45.6%, and 55.6%; and that of preoperative enterocolitis, 31.0%, 26.6%, and 24.4%. The 2 most common surgical procedures were the Soave procedure, including transanal endorectal pull-through, and Duhamel procedure including Z-shaped anastomosis. The mortality rate decreased over time, from 26.1% in phase I to 11.4% in phase II and 7.8% in phase III. Almost all mortality cases were associated with cardiovascular anomalies: 54.5%, 62.5%, and 85.7% in phases I, II, and III, respectively. CONCLUSIONS The incidence of HD with DS has increased over time. The number of male patients and cardiac anomalies has also increased in the last 10 years. Total colonic aganglionosis was rare. A marked decrease in the overall mortality rate was observed.

Therapeutic potential of mesenchymal stem cell transplantation in a nitrofen-induced congenital diaphragmatic hernia rat model

PurposeThe aim of this study was to evaluate the efficacy of mesenchymal stem cells (MSCs) in a nitrofen-induced congenital diaphragmatic hernia (CDH) rat model.MethodsPregnant rats were exposed to nitrofen on embryonic day 9.5 (E9.5). MSCs were isolated from the enhanced green fluorescent protein (eGFP) transgenic rat lungs. The MSCs were transplanted into the nitrofen-induced E12.5 rats via the uterine vein, and the E21 lung explants were harvested. The study animals were divided into three: the control group, the nitrofen-induced left CDH (CDH group), and the MSC-treated nitrofen-induced left CDH (MSC-treated CDH group). The specimens were morphologically analyzed using HE and immunohistochemical staining with proliferating cell nuclear antigen (PCNA), surfactant protein-C (SP-C), and α-smooth muscle actin.ResultsThe alveolar and medial walls of the pulmonary arteries were significantly thinner in the MSC-treated CDH group than in the CDH group. The alveolar air space areas were larger, while PCNA and the SP-C positive cells were significantly higher in the MSC-treated CDH group, than in the CDH group. MSC engraftment was identified on immunohistochemical staining of the GFP in the MSC-treated CDH group.ConclusionsMSC transplantation potentially promotes alveolar and pulmonary artery development, thereby reducing the severity of pulmonary hypoplasia.

Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array

PurposeCongenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm associated with pulmonary hypoplasia. Although genetic factors have been suggested to play a role, the etiology of CDH is still largely unknown. In this study, we analyzed copy number variants (CNVs) using a single-nucleotide polymorphism (SNP) array to examine whether microdeletions contribute to the pathogenesis of this disease.MethodsA total of 28 CDH patients, including 24 isolated and 4 non-isolated cases, were available. We performed CNV analysis using high-resolution SNP arrays (370K, 550K, 660K; Illumina Inc.) and CNstream software. Deletions in loci that have been suggested in previous studies to contain candidate genes affecting CDH were analyzed.ResultsWe detected 335, 6 and 133 deletions specific for patients in 14 (350K array), 3 (550K) and 11 (660K) cases, respectively. Among these deletions, no segments included the previously suggested candidate genes with the exception of an 18-kb deletion observed in the candidate locus 6q27 in two non-isolated patients. This deleted region contains exon 4 of the t-complex-associated-testis-expressed 3 (TCTE3) gene.ConclusionBecause TCTE3 encodes a putative light chain of the outer dynein arm of cilia and human diseases caused by ciliary dysfunction show various phenotypes including skeletal defect, TCTE3 may be a genetic candidate influencing CDH.

The utility of muscle sparing axillar skin crease incision for pediatric thoracic surgery

AbstractBackgroundPosterolateral or standard axillar incisions for the pediatric thoracic surgery are occasionally associated with poor motor as well as cosmetic results, including chest deformities and large surgical scars. A muscle sparing axillar skin crease incision (MSASCI) was initially proposed by Bianchi et al. (in J Pediatr Surg 33:1798–1800, 1998) followed by Kalman and Verebely (in Eur J Pediatr Surg 12:226–229, 2002) resulting in satisfactory cosmetics. However, they performed operations through the third or fourth intercostals space (ICS), therefore the target organs were restricted in the upper two-thirds of the thoracic cavity.Patients and methodsThoracic surgeries were performed using MSASCI in 27 patients (1-day to 9-year old). There were ten patients with esophageal atresia, seven with congenital cystic adenomatoid malformation, five with pulmonary sequestration, two with mediastinal neuroblastoma, two with right diaphragmatic hernia, and one with pulmonary hypertension. A thoracotomy was performed through the appropriate ICS (from third to eighth).ResultsIn all patients, the expected procedures, including pulmonary lower lobectomy, were successfully performed by MSASCI throughout the thoracic cavity. A good operational field was easily obtained in neonates and infants. Most of the patients achieved excellent motor and aesthetic outcomes.ConclusionsMSASCI may become the standard approach for the thoracic surgery for small children.

Usefulness of exchanging a tunneled central venous catheter using a subcutaneous fibrous sheath

OBJECTIVES The reserve of the venous route to the central veins is important for long-term parenteral nutrition (PN). Frequent catheter-related bloodstream infection (CRBSI) induces occlusion of the venous routes. Therefore, a modified exchange procedure using a tunneled central venous catheter (CVC) with a fibrous sheath was developed to preserve the route to the central veins. METHODS Seven patients who required long-term PN received the modified exchange procedure and the outcome of exchanged CVC was retrospectively reviewed. RESULTS The procedure was performed 10 times in seven patients. The venous routes were either the subclavicular or the internal jugular vein in all patients. The exchange of the catheter was due to CRBSI or occlusion in almost all patients. The mean duration of new catheter use was 296.2 days following the exchange. Four catheters continued to be used, and the remaining ones were removed. The reasons for removal were severe CRBSI and occlusion, each of which occurred in two catheterized patients, while the reason for removing the remaining catheters was because the patients no longer needed the catheters. CONCLUSION The modified catheter exchange using fibrous sheath, even in patients with CRBSI, appears to be an effective procedure for reserving the venous route to the central veins in patients who require either long-term PN or other treatments.

Need for thiamine in peripheral parenteral nutrition after abdominal surgery in children.

BACKGROUND Thiamine blood concentrations of pediatric patients receiving peripheral parenteral nutrition change during the postoperative period. In addition, the need to administer thiamine after surgery has not yet been fully studied in children receiving peripheral parenteral nutrition. OBJECTIVE The objective of this prospective study is to clarify whether pediatric patients require the administration of thiamine while receiving peripheral parenteral nutrition after abdominal surgery. PATIENTS Fifteen children were divided into 2 groups; 1 group received peripheral parenteral nutrition without thiamine after surgery (n = 7), whereas the other group received peripheral parenteral nutrition with thiamine after surgery (n = 8). In both groups, thiamine blood concentrations were measured on the preoperative day, and changes in thiamine concentration over time were measured during the starvation period from the first to the fifth postoperative day. RESULTS Preoperative thiamine blood concentrations were within the normal range in both groups. In the group receiving peripheral parenteral nutrition without thiamine, the thiamine concentration gradually decreased with time after the operation, whereas the concentration remained within the normal range in the group receiving peripheral parenteral nutrition with thiamine. Among the 7 patients receiving peripheral parenteral nutrition without thiamine, the thiamine concentration in 3 patients was below the normal range on the fifth postoperative day. CONCLUSION During the starvation period after abdominal surgery, thiamine blood concentrations decreased in pediatric patients receiving peripheral parenteral nutrition without thiamine. Therefore, clinicians treating pediatric patients should add thiamine to the peripheral parenteral nutrition solution during the short starvation period after abdominal surgery.

Transient hyperphosphatasemia after pediatric liver transplantation: TH after liver transplantation

Transient hyperphosphatasemia (TH), the incidence of which in healthy children is 1.5–2.8%, is associated with a temporary elevation of serum alkaline phosphatase (ALP) without any other liver function test (LFT) abnormalities. Fast α2 band, detected on agarose gel electrophoresis, is known to be a highly sensitive phenomenon in TH. The aim of this study was to elucidate the characteristics of TH after liver transplantation (LT).

Bowel obstruction without history of laparotomy: Clinical analysis of 70 patients

Determining the cause of bowel obstruction without a history of laparotomy (BO without HL) is difficult and can result in delay of treatment and development of a potentially life‐threatening situation. We herein investigated the clinical characteristics of pediatric patients who underwent laparotomy due to BO without HL.

Significance of abnormalities in systems proximal and distal to the obstructed site of duodenal atresia.

Background: Duodenal atresia (DA) is a well-known neonatal intestinal disease. Even after surgery, the proximal segment can continue to be severely dilated with hypoperistalsis, resulting in intestinal dysmotility problems in later life. No data have been published regarding the morphologic differences between the proximal and distal regions of obstructed sites of the intramural components in DA. Methods: Operative duodenal samples (N = 12) from cases with DA (age 1–3 days) were used. Age-matched controls (N = 2) were used. All of the specimens were immunohistochemically stained with antibodies to S-100 protein, &agr;-smooth muscle actin, and c-kit protein. Results: At the proximal segments of the obstructed site in DA, the number of neuronal cells decreased in size and number. The circular musculature was moderately to severely hypertrophic. Unusual ectopic smooth muscle bundles were also identified. The innermost layer of the circular musculature was thinner. Interstitial cells of Cajal are decreased, even around the myenteric plexus. All of the staining in the distal segments in DA was similar to the control tissues. Conclusions: Proximal and distal segments in DA differ in the neural cells, musculature, and distributions of the interstitial cells of Cajal. Based on the present study, these morphologic changes may contribute to the onset of postoperative duodenal dysmotility.

Insufficient Portal Vein Inflow in Children without Major Shunt Vessels During Living Donor Liver Transplantation

BACKGROUND Liver cirrhosis is frequently accompanied by insufficient portal vein inflow (IPVF) with large portosystemic shunts. However, pediatric cases often manifested IPVF without any apparent major portosystemic shunts. Although IPVF is a very critical issue, the intraoperative assessment has not been well established. In this study, we reviewed the intraoperative approach and the outcome of the IPVF cases at our department. MATERIAL AND METHODS Eighty-three living donor liver transplantations (LDLT) were performed from 1996 to 2014. The IPVF occurred in 5 cases and necessitated some additional assessments and intraoperative PV flow modulations. We retrospectively reviewed the operative records and analyzed the risk factors and the outcome of the IPVF. RESULTS All 5 IPVF cases were biliary atresia and the mean age at LDLT was 0.74±0.19 years old. The mean recipient PV diameter was 4.3±0.8 mm and the donor IMV patch grafts were applied. To increase the PV inflow, the collaterals around the spleen were ligated in all cases. Intraoperative portal venography was performed in 1 case for selective shunt vessel ligation. In 1 case, the graft was removed and returned to the back table to prevent graft loss during the IPVF. As a result, the final PVF/GV increased to 66.4±20.0 ml/min/100 g. CONCLUSIONS IPVF is a very critical problem. Intraoperative portal venography is helpful and collateral veins ligation is crucial. In some cases, returning the graft to the back table during the PV inflow modulation can prevent graft loss.