Shigetsugu Tsuji

High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease

Abstract Objective. Although many mutations of the Wilsons disease (WD) gene (ATP7B) have been reported, few data exist regarding the occurrence of fulminant hepatic failure (FHF). We sought to determine if genotypic assignment according to type of protein-product could be related to the prevalence of FHF among patients with WD. Material and methods. We performed gene analysis in Japanese patients with WD as well as genotype–phenotype analysis in 51 patients. We divided genotypes into two groups according to type of ATP7B product: truncated group [T] consisted of two truncated alleles including nonsense, insertion, deletion, or splice site mutation, and missense group [M] consisted of one or two missense alleles. We also divided phenotypes into two groups: [FHF] group and [non-FHF] group. Results. We were able to determine genotype in 42 patients. Genotypically, 11 patients were assigned to [T] group and 31 to [M] group. Phenotypically, 4 patients were [FHF] and 38 were [non-FHF]. All patients in [FHF] group belonged to [T] group. The prevalence of [FHF] in [T] group was 36.4% and was significantly higher than in [M] group (p < 0.003). Conclusions. These results demonstrated that genotypes for truncation of ATP7B are associated with high prevalence of FHF.

Detection of pharyngeal cancer in the overall population undergoing upper GI endoscopy by using narrow-band imaging: a single-center experience, 2009–2012

BACKGROUND Nonmagnifying observation by using narrow-band imaging (NBI) is useful for detecting pharyngeal lesions. Magnifying observation by using NBI can distinguish between cancerous and noncancerous lesions and is therefore useful for the early detection of pharyngeal cancer. OBJECTIVE To evaluate the usefulness of observation of the pharynx by using NBI in the overall population undergoing upper GI endoscopy. DESIGN Retrospective study. SETTING Single tertiary referral center. PATIENTS A total of 11,050 upper GI endoscopies between January 2009 and December 2012. INTERVENTIONS Observation of the pharynx by using NBI. MAIN OUTCOME MEASURES The rate of detection of pharyngeal cancer, the rates of detection according to the reason for endoscopy, and the types of cancers detected. RESULTS Thirty-eight cancerous lesions were detected in 29 patients (0.26%, 29/11,050). The rate of detection of pharyngeal cancer was significantly higher in patients with a history of head and neck cancer (9.7%, 3/31) or a history of esophageal cancer (3.5%, 10/282). In patients undergoing endoscopy for screening, pharyngeal discomfort, and a history of gastric cancer, the rates of detection of pharyngeal cancer were 0.11% (10/8872), 1.1% (3/265), and 0.19% (3/1600), respectively. Two patients (6.9%) were female. One had a history of esophageal cancer, and the other had pharyngeal discomfort. LIMITATIONS Single-center, retrospective study. CONCLUSIONS Observation of the pharynx by using NBI in patients with previous head and neck cancer or esophageal cancer or who have pharyngeal discomfort is very important. Moreover, pharyngeal cancer was certainly found in the male patients undergoing screening endoscopy, although the rate was lower.

Does Laparoscopic and Endoscopic Cooperative Surgery for Gastric Submucosal Tumors Preserve Residual Gastric Motility? Results of a Retrospective Single-Center Study

Background Laparoscopic and endoscopic cooperative surgery (LECS) is a minimally invasive surgical technique used to resect gastric submucosal tumors with intraluminal growth. Endoscopic submucosal dissection is used to determine the appropriate resection line from within the stomach lumen as it minimizes the stomach wall resection area and prevents postoperative stomach deformity. Although LECS is intended to preserve gastric function, few reports have evaluated postoperative residual gastric motility. Therefore, we conducted a retrospective analysis of patients who underwent LECS to determine the effects of LECS on residual gastric motility. Methods Twenty-two patients underwent endoscopy 3 to 12 months after LECS. Patients were evaluated for endoscopic evidence of gastric motility disorder, namely food residue and occurrence/exacerbation of reflux esophagitis. We considered patients with new onset of gastric symptoms and endoscopic evidence of gastric motility disorder to have clinically relevant gastric motility disorder. We described patient characteristics, tumor location, and surgical findings. Results Two of 22 patients developed clinically relevant gastric motility disorder after LECS. In one of these patients, the symptoms were not severe; only one had reduced dietary intake and had lost weight. We identified clinically relevant gastric motility disorder in two patients with gastrointestinal stromal tumors located in the lesser curvature of the stomach. The major axis of these two tumors was 34 mm and 38 mm. Conclusions Many patients did not have clinically relevant gastric motility disorder after LECS. Further investigation is required to identify predisposing factors for gastric motility disorder.

Preoperative endoscopic diagnosis of superficial non-ampullary duodenal epithelial tumors, including magnifying endoscopy.

Superficial non-ampullary duodenal epithelial tumor (SNADET) is defined as a sporadic tumor that is confined to the mucosa or submucosa that does not arise from Vaters papilla, and it includes adenoma and adenocarcinoma. Recent developments in endoscopic technology, such as high-resolution endoscopy and image-enhanced endoscopy, may increase the chances of detecting SNADET lesions. However, because SNADET is rare, little is known about its preoperative endoscopic diagnosis. The use of endoscopic resection for SNADET, which has no risk of metastasis, is increasing, but the incidence of complications, such as perforation, is significantly higher than in any other part of the digestive tract. A preoperative diagnosis is required to distinguish between lesions that should be followed up and those that require treatment. Retrospective studies have revealed certain endoscopic findings that suggest malignancy. In recent years, several new imaging modalities have been developed and explored for real-time diagnosis of these lesion types. Establishing an endoscopic diagnostic tool to differentiate between adenoma and adenocarcinoma in SNADET lesions is required to select the most appropriate treatment. This review describes the current state of knowledge about preoperative endoscopic diagnosis of SNADETs, such as duodenal adenoma and duodenal adenocarcinoma. Newer endoscopic techniques, including magnifying endoscopy, may help to guide these diagnostics, but their additional advantages remain unclear, and further studies are required to clarify these issues.

Impact of the clip and snare method using the prelooping technique for colorectal endoscopic submucosal dissection.

BACKGROUND AND STUDY AIM Endoscopic submucosal dissection (ESD) is more difficult to perform for colorectal tumors, but the use of traction to facilitate direct submucosal layer visualization is a promising method to reduce procedure times and complication rates. This study aimed to evaluate the efficacy and safety of the clip and snare method (CSM) with a prelooping technique (PLT) for colorectal tumors. PATIENTS AND METHODS A total of 140 colorectal tumors were treated: 17 using the CSM with PLT; 123, used as controls, by standard ESD without these techniques. Therapeutic efficacy and safety were retrospectively assessed. RESULTS All tumors were successfully resected en bloc using the CSM with PLT. Multisegment resection was found in four tumors in the control group.  There was a significant difference in the procedure time between the patients in the CSM with PLT group and the control group (45.6 vs. 70.1 minutes; P = 0.047). There were no significant differences in the complication rates (5.9 % vs. 8.1 %; P = 1.00). CONCLUSIONS The CSM with PLT was effective and safe in this study.

White globe appearance is a novel specific endoscopic marker for gastric cancer: A prospective study

White globe appearance (WGA) is a small white lesion with a globular shape that can be identified by magnifying endoscopy with narrow‐band imaging (M‐NBI). WGA was recently reported as a novel endoscopic marker that can differentiate between gastric cancer (GC) and low‐grade adenoma. However, the usefulness of WGA for differentiating GC from non‐cancerous lesions (NC), including those of gastritis, is unknown.

Use of transoral endoscopy for pharyngeal examination: Cross‐sectional analysis

Transoral endoscopy with narrow band imaging (NBI) is useful for identifying early‐stage head and neck cancer. However, the screening capability of transoral upper gastrointestinal endoscopy has not yet been systematically evaluated. We evaluated the usefulness of transoral upper gastrointestinal endoscopy for pharyngeal examination.

Endoscopic submucosal dissection of a squamous cell carcinoma in situ in the anal canal diagnosed by magnifying endoscopy with narrow-band imaging

A 60-year-old female underwent screening colonoscopy. Narrow-band imaging (NBI) without magnification showed a 20-mm, well-demarcated brownish area located close to the dentate line of the anal canal. Conventional white-light imaging revealed an ill-defined, flat lesion with scattered reddish spots at the same site. Magnifying endoscopy with NBI (M-NBI) revealed abnormal microvessels with dilatation, tortuosity, caliber change and various shapes that were similar to the intrapapillary capillary loop patterns seen in esophageal squamous cell carcinoma in situ. Endoscopic submucosal dissection (ESD) was performed, and on histological examination, the resected specimen showed squamous cell carcinoma (SCC) in situ and clear surgical margins. Thus, NBI is an efficient method for detecting superficial SCC in the anal canal and M-NBI may be useful for determining the extent of the lesion. During screening colonoscopy, the anal region should be carefully observed using NBI, as early detection offers a greater opportunity for ESD which is a less invasive procedure.

Impact of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation on the Occurrence of Chronic Pancreatitis in Japanese Patients

DNA analyses of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Japanese patients with idiopathic chronic pancreatitis (ICP) were performed to determine the relationship between the CFTR mutation and ICP. The study included patients with alcoholic pancreatitis (n = 20), patients with ICP (n = 20) and healthy volunteers (controls; n = 110). The poly-T region in intron 8 of the CFTR gene was analysed by direct sequencing. The CFTR coding region was screened using single-strand conformational polymorphism and direct sequencing. In the controls, frequencies of the 5T genotype and 5T allele were 4.5% and 3.6%, respectively. The frequency of the 5T genotype was significantly higher in the ICP group (20%) versus controls, but was not significantly different in alcoholic chronic pancreatitis patients (5%). Thus, the CFTR gene mutation, especially the 5T genotype, appears to have some relationship to ICP prevalence in Japanese patients independent of cystic fibrosis.

Can flat-type brownish microlesions in the orohypopharynx be followed up without biopsy or endoscopic resection?

Narrow‐band imaging (NBI) is useful for detecting superficial oropharyngeal lesions. However, the diagnostic and treatment guidelines for NBI are not established. The aim of the present study was to evaluate the treatment strategy for these microlesions.