The Evaluation of Gastric Emptying Using the 13 C-Acetate Breath Test in Neurologically Impaired Patients - A Focus on the Stomach Function and Morphology.

PURPOSE: We explored factors affecting gastric emptying in neurologically impaired (NI) patients using the 13C-acetate breath test. METHODS: Twenty-four NI patients were classified by the presence of gastroesophageal reflux disease (GERD), which was treated by fundoplication plus gastrostomy, or the absence of GERD, which was treated by gastrostomy alone, along with gastric malposition involving cascade stomach and organoaxial gastric volvulus (OGV). Gastric emptying parameters (GEPs), which were the emptying half time (T 1/2 , minute), the lag phase time (T lag , minute), and the gastric emptying coefficient (GEC), were measured before and after surgery. We evaluated the relationship between GEPs and GERD, gastric malposition, and surgical intervention. All data were expressed as the median (interquartile range). RESULTS: The T1/2 and GEC of patients with OGV were significantly worse than in those without OGV before surgery (T1/2 with OGV: 241.3 [154.9, 314.3] vs. T1/2 without OGV: 113.7 [105.2, 151.4], p = 0.01, GEC with OGV: 3.19 [2.46, 3.28] vs. GEC without OGV: 3.65 [3.24, 3.90], p = 0.02). GERD and cascade stomach were not associ ated with GEPs. The GEPs of all NI patients showed no significant difference between before and after surgery. The surgical change in T1/2 (ΔT 1/2 ) in the patients with OGV was significantly lower than in those without OGV (ΔT1/2 with OGV: -47.1 [-142.7, -22.1] vs. ΔT1/2 without OGV: -3.78 [-26.6, 12.0], p = 0.03). CONCLUSION: Stomach malposition, such as OGV, seems to affect gastric emptying and may be improved by surgi cal intervention.

Tubular intestinal duplication extending from the stomach to the ileum associated with multiple intestinal atresia and situs inversus: a case report.

BACKGROUND: Duplication of the alimentary tract can occur in any of its parts. For duodenal duplication, complete resection is particularly difficult when the ampulla of Vater is on the duplicated lumen and a deliberate management is necessary. CASE PRESENTATION: A 0-day female baby was referred to our department due to abdominal distention. The X-ray examination showed dextrocardia and opacity of the liver on the left side and abdominal ultrasonogram revealed remarkable intestinal dilatation. Therefore, urgent laparotomy was performed on the day of birth. Complete situs inversus of the abdominal organs was revealed, and the origin of the jejunum was on the left side and was accompanied by tubular intestinal duplication. The origin of the duplicated intestine was at the pancreatic head's dorsal area. There were two points of type Шa atresia on the ileum. Therefore, we spared the duplicated intestine with a length of 3 cm to secure the passage of the biliary and pancreatic juices by a functional-side-to-side anastomosis with a 45-mm Endo-GIA™ camel load (Medtronic, Minneapolis, MN, USA). The ileum was transected at the distal side of the atresia point, and end-to-end jejunoileostomy was performed. Postoperative gastrointestinal series revealed remnants of the duplicated alimentary tract on the dorsal area of the stomach. CONCLUSIONS: Identifying the position of the ampulla of Vater is crucial in the surgery of alimentary tract duplication with duodenal involvement. However, in the present case, it was difficult to identify whether the ampulla of Vater was on the true or duplicated lumen, and we had to spare the duplicated duodenum. Stapler anastomosis could be performed safely even in neonatal cases.

Proctoring System of Pediatric Laparoscopic Surgery for Choledochal Cyst.

Background: Endoscopic surgery also has been becoming widespread in the field of pediatric surgery. However, most disease treated by pediatric surgery in a single institution are small number of cases. Besides, the variety of operative procedures that need to be performed in this field is quite wide. For these reasons, pediatric surgeons have limited opportunities to perform endoscopic surgery. Therefore, it is difficult to introduce advanced endoscopic surgery at a single local hospital. To educate pediatric surgeons in local hospitals, for widespread advanced pediatric endoscopic surgery safely, and to eliminate the need for patient centralization, we have introduced a proctoring system. We compared the surgical results of our institution, a center hospital, with other local institutions, to investigate the feasibility of our proctoring system. Methods: The experienced pediatric surgeon of our institution visits local hospitals to provide onsite coaching and supervises pediatric surgeons on the learning curve. All patients who underwent laparoscopic cyst excision and hepaticojejunostomy for choledochal cysts, one of the advanced pediatric endoscopic surgeries was retrospectively reviewed. Results: Thirty-four cases were evaluated (14 cases in our institution, 20 cases in 9 other institutions). The procedures of all 34 cases were performed by surgeons with 0-2 cases of experience in the procedure. There were no open conversion cases. There was no significant difference in the operative date. There was 1 case (6.7%) of postoperative complications during hospitalization at our institution and 3 cases (14.3%) at other institutions (P = .47). Two cases of late complications (13.3%) occurred at our institution, whereas 6 cases (28.6%) occurred at other institutions (P = .28). Conclusion: With the proctoring system, the performance and completion of advanced pediatric endoscopic surgery at local institutions was feasible. This has important implications given the ever-growing demand for pediatric endoscopic surgery and the increasing need for competent pediatric endoscopic surgeons.

Negative-Pressure Pulmonary Edema After Difficult Endotracheal Intubation in a Patient with Juvenile Rheumatoid Arthritis Undergoing Spigelian Hernia Surgery: A Case Report.

BACKGROUND Difficult tracheal intubation (DTI) is common in patients with rheumatoid arthritis (RA) because of the subluxation of atlas and axis, the fusion of the cervical spine as a result of arthritis. We report a case of negative-pressure pulmonary edema (NPPE) caused by DTI in a patient with juvenile RA (JRA) who underwent surgery for spigelian hernia. CASE REPORT A 35-year-old man was referred to our department for repeated abdominal pain and a left-lower quadrant mass. Spigelian hernia was diagnosed with abdominal computed tomography (CT), and surgery was scheduled. Despite careful preoperative preparation and intubation strategy, fiber-optic intubation and laryngeal mask ventilation failed; nasal fiber-optic tracheal intubation was subsequently successfully performed. During induction, upper airway obstruction caused NPPE. CT findings showed bilateral infiltration and diffuse ground-glass opacity suggestive of pulmonary edema. Surgery for the spigelian hernia was canceled as the patient required intensive care as a result of NPPE. After 48 h of initiating treatment, the patient's respiratory condition gradually improved. Seven days after DTI, he underwent laparoscopy-assisted surgery for the spigelian hernia. The patient was discharged after 2 weeks of hospitalization. Four years have passed since the surgical procedure; the outcome has remained favorable and there has been no recurrence. CONCLUSIONS Normal ventilation may be the most important factor for preventing NPPE. It is vital that patients with RA receive treatment in an environment with advanced airway equipment and staff fully trained in its use. Similarly, the necessary staff and equipment for emergency cricothyroidotomies should also be readily available.

Influence of laparoscopy-aided gastrostomy on gastroesophageal reflux in neurologically impaired patients using multichannel intraluminal impedance pH measurements.

BACKGROUND: Development of gastroesophageal reflux disease (GERD) after gastrostomy remains debatable. Therefore, this study aimed to evaluate whether laparoscopy-aided gastrostomy (LAG) influence on the occurrence of GERD in neurologically impaired (NI) patients. Furthermore, we investigated whether preoperatively excluding NI patients with GERD can reduce the number of patients requiring subsequent anti-reflux surgery (ARS) after LAG. METHODS: This retrospective study included 35 NI patients (median age: 11.0; interquartile range 5.0-23.5 years) who underwent LAG according to our criterion from October 2012 to June 2020 and MII-pH before and after LAG. MII-pH parameters were compared in all patients and among three age groups between before and after LAG. RESULTS: There were no significant differences in MII-pH parameters before and 1 year after LAG in all patients, and no patient underwent subsequent ARS. Only one paediatric patient with 64 number of reflux episodes before LAG required subsequent ARS 3 years after LAG. CONCLUSIONS: Generally, LAG did not influence the postoperative GERD at 1 year after LAG, and our criteria could reduce the number of patients requiring subsequent ARS. However, paediatric NI patients with higher number of reflux episodes in preoperative MII-pH study may need careful long-term follow-up after LAG.

Creatinine-to-cystatin C ratio estimates muscle mass correlating the markers of the patients with severe motor and intellectual disabilities.

AIM: The creatinine-to-cystatin C ratio (CCR) has been acknowledged as a potential marker of muscle mass. The purpose of the present study was to evaluate the relationship between CCR and nutritional status in a bioelectrical impedance analysis (BIA) of patients with severe motor and intellectual disabilities (SMID). METHODS: This study included 39 patients with SMID (17 males, 22 females) over 16 years of age were included retrospectively. CCR was calculated as serum creatinine (mg/dL)/cystatin C (mg/L) × 10. The BIA parameters such as the phase angle (PhA), fat free mass (FFM), appendicular skeletal muscle mass (ASM) and appendicular skeletal muscle mass index (ASMI) values were measured using BIA. Correlation analyses between CCR and the BIA parameters were conducted. RESULTS: The mean CCR is 4.47 ±â€¯1.34. Significant positive relationships between CCR and FFM, PhA, ASM, ASMI were identified (r = 0.3373, p = 0.0357. r = 0.4273, p = 0.0093. r = 0.5008, p = 0.0012. r = 0.4706, p = 0.0025 and r = 0.4751, p = 0.0022, respectively). CONCLUSIONS: The study indicated that CCR in the patients with SMID is a useful parameter that allows for the muscle mass to be estimated easily and accurately. This means that evaluating CCR could be used as a simple and important screening tool for PhA, FFM and muscle mass.

Ambidextrous needle driving and knot tying helps perform secure laparoscopic hepaticojejunostomy of choledochal cyst (with video).

Ieiri and colleagues report an ingenious technique for performing ambidextrous suturing in laparoscopic hepaticojejunostomy for cases with small hepatic ducts. Surgeons who devote professional attention to minimally invasive surgery should take care to practice extensively with their non-dominant as well as dominant hand to improve the quality of laparoscopic surgery.

DNA-Aptamer Raised against Receptor for Advanced Glycation End Products Improves Survival Rate in Septic Mice.

Despite remarkable scientific advances in the understanding of molecular mechanisms for sepsis, therapeutic options are far from satisfactory. High mobility group box 1 (HMGB1), one of the ligands of receptor for advanced glycation end products (RAGE), is a late mediator of lethality in septic mice. We have recently found that the DNA-aptamer raised against RAGE (RAGE-aptamer) significantly blocks experimental diabetic nephropathy and melanoma growth and metastasis. We examined the effects of RAGE-aptamer on sepsis score, survival rate, and inflammatory and oxidative stress responses in serum, peripheral monocytes, kidneys and livers of lipopolysaccharide- (LPS-) injected mice, and on LPS-exposed THP-1 cells. RAGE-aptamer inhibited the binding of HMGB1 to RAGE in vitro. RAGE-aptamer significantly (P = 0.002) improved sepsis score at 8 hours after LPS injection and survival rate at 24 hours (P < 0.01, 70%) in septic mice compared with LPS+vehicle- or LPS+control-aptamer-treated mice. RAGE-aptamer treatment significantly decreased expression of p-NF-κB p65, an active form of redox-sensitive transcriptional factor, NF-κB and gene or protein expression of TNF-α, IL-1ß, IL-6, and HMGB1 in serum, peripheral monocytes, and kidneys of septic mice in association with the reduction of oxidative stress and improvement of metabolic acidosis, renal and liver damage. LPS-induced oxidative stress, inflammatory reactions, and growth suppression in THP-1 cells were significantly blocked by RAGE-aptamer. Our present study suggests that RAGE-aptamer could attenuate multiple organ damage in LPS-injected septic mice partly by inhibiting the inflammatory reactions via suppression of HMGB1-RAGE interaction.

Pigment epithelium-derived factor inhibits advanced glycation end product-induced proliferation, VEGF and MMP-9 expression in breast cancer cells via interaction with laminin receptor.

Pigment epithelium-derived factor (PEDF) is one of the adipocytokines with multifaceted functions, which may serve a role in the development of various types of cardiometabolic disorders. Advanced glycation end products (AGEs) have been shown to contribute to numerous aging-associated disorders, such as cancer. However, it remains unclear whether and how PEDF exerts antitumor effects in AGE-exposed human breast cancer MCF-7 cells, and therefore this was explored in the present study. NADPH oxidase activity was measured with luciferase assay, while gene and protein expression levels were evaluated with quantitative PCR and western blot analysis, respectively. AGEs significantly increased NADPH oxidase-driven superoxide generation, cytochrome b-245 ß chain (gp91phox) and receptor for AGE (RAGE) mRNA expression, proliferation, mRNA and protein expression levels of vascular endothelial growth factor (VEGF), and matrix metalloproteinase (MMP)-9 mRNA expression in MCF-7 cells, all of which were dose-dependently inhibited by PEDF. Neutralizing antibody against laminin receptor (LR-Ab) significantly blocked these beneficial effects of PEDF in AGE-exposed MCF-7 cells. Furthermore, as in AGE-treated cells, PEDF dose-dependently inhibited the NADPH oxidase-driven superoxide generation, gp91phox, RAGE and MMP-9 mRNA expression, proliferation, mRNA and protein expression levels of VEGF in non-treated control MCF-7 cells, and these effects were also reversed by LR-Ab. LR levels were not affected by the treatment with AGEs, PEDF or LR-Ab. The present study suggested that PEDF may exert antitumor effects in AGE-exposed breast cancer cells by suppressing NADPH oxidase-induced ROS generation and VEGF and MMP-9 expression via interaction with LR. Since PEDF expression is decreased in breast cancer tissues, pharmacological upregulation or restoration of PEDF may inhibit the growth and metastasis of breast cancer.

De novo gastric cancer developing after liver transplantation from deceased donor for biliary atresia: a case report.

BACKGROUND: Apart from Kasai's procedure, liver transplantation (LTx) has dramatically improved the outcome of children with biliary atresia (BA). However, de novo malignancy has been reported to be one of the major causes of late mortality after LTx among adults. We report a rare case of de novo gastric cancer developing after LTx for BA received during childhood. CASE PRESENTATION: A 21-year-old male patient who had undergone LTx for BA at age 2 years occasionally visited our outpatient clinic due to symptoms of epigastric pain and dysphagia. Endoscopic examination and computed tomography revealed advanced gastric cancer at the gastroesophageal junction with multiple liver metastases. Despite systemic chemotherapy, the disease progressed, resulting in patient's death 2 years after the diagnosis. CONCLUSIONS: De novo malignancy in the absence of post-transplant lymphoproliferative disease is rare in pediatric patients who received LTx. To the best of our knowledge, no report has been available on the development of gastric cancer after LTx for BA during childhood. Primary physicians should therefore establish a follow-up plan for patients receiving LTx for BA considering the potential for the development of de novo malignancy, including gastric cancer, despite its rarity.

The herbal medicines Inchinkoto and Saireito improved hepatic fibrosis via aquaporin 9 in the liver of a rat bile duct ligation model.

OBJECTIVE: To determine if the administration of the Japanese herbal medicines Inchinkoto (ICKT) and Saireito (SRT) ameliorate hepatic fibrosis and derangement of hepatocyte aquaporins (AQPs) following bile duct ligation (BDL) in a rat model of obstructive cholestasis. MATERIALS AND METHODS: Five groups of Wistar rats were used, and the groups included sham surgery (Sham group), BDL with no treatment (NT group), BDL plus ICKT (ICKT group), BDL plus SRT (SRT group), and BDL plus ICKT and SRT (SRT/ICKT group). Each herbal medicine was administered at 1 g/kg/day on the first postoperative day. The serum levels and various clinical markers were measured with real-time polymerase chain reaction. Staining was used to evaluate the degree of fibrosis and the inflammatory responses. RESULTS: Serum aspartate aminotransferase and alanine aminotransferase in the ICKT and SRT/ICKT groups were significantly lower than those in the NT group. NF-κB mRNA expression was significantly decreased in the ICKT group and the SRT/ICKT group compared with the NT group. AQP9 mRNA expression was significantly increased in the ICKT group and the SRT/ICKT group compared with the NT group. The degree of Masson's trichrome staining in the SRT/ICKT group was significantly lower than that in the NT group. The degree of NF-κB staining in the SRT/ICKT group was significantly lower than that in the NT, ICKT, or SRT group. CONCLUSIONS: The postoperative administration of ICKT and SRT induced synergistic beneficial effects, resulting in the reduction of hepatic fibrosis via mechanisms involving the inhibition of NF-κB expression and the improvement of AQP9 downregulation.

DNA aptamer raised against receptor for advanced glycation end products suppresses renal tubular damage and improves insulin resistance in diabetic mice.

OBJECTIVE: Interaction of advanced glycation end products (AGEs) with the receptor RAGE plays a role in diabetic nephropathy. However, effects of RAGE-aptamer on tubular damage remain unknown. We examined whether RAGE-aptamer inhibited tubular damage in KKAy/Ta mice, obese type 2 diabetic mice with insulin resistance. MATERIALS AND METHODS: Male 8-week-old KKAy/Ta mice received continuous intraperitoneal infusion of either control-aptamer or RAGE-aptamer for 8 weeks. Blood biochemistry and blood pressure, and urinary N-acetyl-ß-D-glucosaminidase (NAG) activity and albumin excretion levels were monitored. Kidney and adipose tissue samples were obtained for immunohistochemical analyses. RESULTS: Although RAGE-aptamer did not affect blood glucose, blood pressure, body weight, or serum creatinine values, it significantly inhibited the increase in urinary NAG activity and HOMA-IR in diabetic mice at 12 and 16 and at 16 weeks old, respectively. Furthermore, compared with control-aptamer-treated mice, renal carboxymethyllysine, RAGE, and NADPH oxidase-driven superoxide generation were significantly decreased in RAGE-aptamer-treated mice at 12 weeks old with subsequent amelioration of histological alterations in glomerular and interstitial area, while adipose tissue adiponectin expression was increased. CONCLUSION: Our present results suggest that RAGE-aptamer could inhibit tubular injury in obese type 2 diabetic mice partly by suppressing the AGE-RAGE-oxidative stress axis and improving insulin resistance.

Laparoscopic identification of combined pediatric femoral hernia and ruptured abdominal cyst of the canal of Nuck: A report of an extremely rare case.

A 7-year-old girl was referred to our hospital with a suspected right-sided indirect inguinal hernia. An egg-sized elastic, non-painful mass was palpated in the right inguinal region. Preoperative CT demonstrated a 30-mm simple cystic mass in the right internal inguinal canal, which we diagnosed as an abdominal cyst of the canal of Nuck. Laparoscopy revealed that the abdominal cystic component was ruptured, so we performed Pott's procedure. However, the patient's right groin swelled on postoperative day 3, necessitating re-operation. The patient's symptoms recurred again after 3 months, despite having had two surgical repairs. In the third operation, a right-sided femoral hernia was confirmed and repaired via external and laparoscopic approaches. To the best of our knowledge, there have been no reports on the combination of femoral hernia and cyst of the canal of Nuck in children. A laparoscopic approach was useful for obtaining a definitive diagnosis and conducting a safe and secure surgical repair.

Gastrointestinal stromal tumor in perforated Meckel's diverticulum: a case report and literature review.

INTRODUCTION: Gastrointestinal stromal tumor (GIST) is rare neoplasms of the gastrointestinal tract associated with high rates of malignant transformation. GIST has been found largely in the stomach, small bowel, colon and rectum, and esophagus, but about 5% are found in other locations. We herein report a 56-year-old woman with a GIST in perforated Meckel's diverticulum. After encountering this patient, a review of the literature found reports of 18 similar patients. CASE PRESENTATION: A 56-year-old woman diagnosed with galactosialidosis (ß-galactosidase-neuraminidase deficiency) presented with vomiting. On contrast-enhanced computed tomography, peritonitis due to perforation of the intestine was diagnosed based on the free air and dilated loop of the small bowel. Laparotomy revealed perforation of Meckel's diverticulitis located 50 cm from the ileocecal valve. Partial resection of the ileum, including the diverticulum, and end-to-end anastomosis of the small intestine were performed. Regarding the pathological findings, the edge of the diverticulum wall consisted of a solid mass measuring 1.0 cm in size, and the tumor cells were spindle-shaped with 1 mitosis present per 50 high-power fields. The diagnosis was established as GIST of the Meckel's diverticulum. The postoperative period was uneventful. Follow-up at two years revealed no evidence of recurrence. CONCLUSION: GIST in perforated Meckel's diverticulum is very rare. The potential for the coexistence of GIST or other tumor should be considered in the treatment of perforated Meckel's diverticulum.

Benign mesenteric lipomatous tumor in a child: a case report and literature review.

BACKGROUND: Lipomatous tumors are the most common type of soft-tissue tumors. Benign lipomatous tumors are lipomas and lipoblastoma. We herein report a case of benign mesenteric lipomatous tumor and the largest collection of known benign mesenteric lipomatous tumors in children in the literature. CASE PRESENTATION: A 3-year-old girl presented with repeated dull abdominal pain and left abdominal mass swelling. On a physical examination, the child had a soft, moderately distended left abdomen that was not tender when palpated. Computed tomography and magnetic resonance imaging demonstrated a large fatty mass within the mesentery, measuring approximately 8 × 6 cm. The mass extended from the right upper quadrant to the lower pole of the kidneys. Laparotomy with resection of the mesenteric tumor was performed under general anesthesia. A well-capsuled tumor was a soft, yellow mass and found loosely attached to the mesenterium of the ileum. A histopathological examination demonstrated the lobular proliferation of mature adipocytes. Atypical lipoblasts were not seen. These features are compatible with benign lipomatous tumor, such as lipoma or lipoblastoma with maturation. CONCLUSION: In conclusion, benign mesenteric lipomatous tumors tend to be large in size over 10 cm in longitudinal length. However, resection is well tolerated in the vast majority of cases with benign post-operative courses.

Adherences to oral nutritional supplementation among hospital outpatients: An online cross-sectional survey in Japan.

Oral nutritional supplements (ONS) are multi-nutrient products used to increase the energy and nutrient intakes of patients. The aim of this study was to examine whether or not the adherence of patients varies according to their receiving prescription or over-the-counter ONS. Data were obtained from an online cross-sectional survey conducted with patients in Japan. A total of 107 patients who matched the inclusion criteria for the prescription ONS group and 148 who matched the criteria for the over-the-counter ONS group were further analyzed. In the prescription and over-the-counter ONS groups, the main medical reason for ONS consumption were "malnutrition" (48 patients [44.9%] vs. 63 patients [42.6%] p = 0.798], "frailty" (29 patients [27.1%] vs. 36 patients [24.3%] p = 0.663) and "aging" (25 patients [23.4%] vs. 30 patients [20.3%] p = 0.644). The proportion of "No particular disease" for prescription ONS consumption was significantly lower than that for over-the-counter ONS (6 patients [5.6%] vs. 24 patients [16.2%] p = 0.001). The body mass index of the prescription ONS group was significantly higher than that of the over-the-counter ONS group (21.1±4.38 kg/m2 vs. 19.9±3.75 kg/m2, p = 0.0161). In the prescription ONS group, all patients were given medical advice by doctors or registered dietitians. In contrast, in the over-the-counter ONS group, only 46 patients (31.1%) were given advice by doctors or registered dietitians (p<0.001). In the prescription ONS group, ONS was taken significantly more times and for a longer duration than in the over-the-counter ONS group (p<0.0001). However, among patients given advice by doctors or registered dietitians, there were no significant differences between the groups. Greater support by the medical team is still needed in order to maximize adherence to supplementation, especially concerning the calories, timing and period, so that benefits can be achieved and sustained.

Therapeutic Potential of Pigment Epithelium-derived Factor in Cancer.

Pigment epithelium-derived factor (PEDF) is one of the serine protease inhibitors with multifunctional properties, which is produced by various types of organs and tissues. There is an accumulating body of evidence that PEDF plays an important role in the maintenance of tissue homeostasis. Indeed, PEDF not only works as an endogenous inhibitor of angiogenesis, but also suppresses oxidative stress, inflammatory and thrombotic reactions in cell culture systems, animal models, and humans. Furthermore, we, along with others, have found that PEDF inhibits proliferation of, and induces apoptotic cell death in, numerous kinds of tumors. In addition, circulating as well as tumor expression levels of PEDF have been inversely associated with tumor growth and metastasis. These observations suggest that supplementation of PEDF proteins and/or enhancement of endogenous PEDF expression could be a novel therapeutic strategy for the treatment of cancer. Therefore, in this paper, we review the effects of PEDF on diverse types of cancer, and discuss its therapeutic perspectives.

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.

Hypertrophic cardiomyopathy is a heterogeneous disease caused by gene mutations. Most of the disease-causing mutations were found in the genes for sarcomeric proteins, but there are several cases carrying mutations in genes for extra-sarcomeric cytoskeletons. Desmin is a member of extra-sarcomeric cytoskeletons and plays an important role in muscle contraction. Mutations in the desmin gene cause various type of general myopathy and/or cardiomyopathy, known as desmin-related myopathies. We identified a novel desmin missense mutation, Thr219Pro, in the homozygous state in a patient, who first manifested with hypertrophic cardiomyopathy and later progressed to general myopathy. His parents were heterozygous for the mutation, but showed no clinical abnormality, suggesting the recessive inheritance of the mutation. We here report a severe phenotype of hypertrophic cardiomyopathy preceded the onset of general myopathy caused by a novel homozygous missense mutation in the 1B α-helix domain of desmin.

[Kampo medicine in the pediatric surgical field].

Kampo medicine has been used for over 4,000 years. Recently, some Kampo formulas have been prescribed for postoperative pediatric patients with gastrointestinal anomalies and disease. However, it has been only 30 years since Kampo medicine has been widely used in the pediatric surgical field. Some of the principal Kampo formulas used for daily treatment in the pediatric surgical field are: Rikkunshito and Bukuryouin-Gou-Hangekoubokuto for patients after upper gastrointestinal surgery; Daikenchuto for patients after colorectal surgery; Inchinkoto for postoperative patients with biliary atresia; and Hainosankyuto for periproctal abscess. Kampo formulas according to the postoperative condition are reviewed from the viewpoint of evidence-based medicine, our experience, and experiments. The results of the Kampo treatments listed above were superior to the results when a Kampo formula was not administered in pediatric patients postoperatively.

Infantile neuroblastoma of the urinary bladder detected by hematuria.

Malignant tumors of the urinary bladder in infants are extremely rare. Rhabdomyosarcoma is the most likely tumor in this site, whereas neuroblastoma of the urinary bladder is exceedingly uncommon and is not listed as a differential diagnosis for tumors of this site. We present a case of neuroblastoma arising from the dome of the bladder wall, detected by hematuria. Only six cases of neuroblastoma originating from the bladder, including the present case have been reported. Of the cases, five arose from the dome of the bladder wall. In this report, the differential diagnosis of bladder tumors in children is discussed. A diagnosis of neuroblastoma should be taken into consideration, especially in the case of tumors arising from the dome of the bladder wall despite an uncommon location.