Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

Objectives: Causes of early-onset refractory diarrhea include exudative diarrhea associated with very early-onset inflammatory bowel diseases, osmotic or secretory diarrhea, and protein-losing enteropathy. Monogenic disorders are included in these diseases, yet a comprehensive genetic analysis has not been fully established.

Methods: We established targeted gene panels covering all responsible genes for early-onset diarrhea.

Gastric Focal Neutrophil Infiltration and Wide Duodenal Gastric Foveolar Metaplasia Are Histologic Discriminative Markers for Crohn's Disease and Behçet's Disease.

Background/aims: Behçet's disease (BD) with intestinal lesions and Crohn's disease (CD) share clinical features. However, no report has compared the 2 diseases with regard to lesions of the upper gastrointestinal tract (UGT). We aimed to evaluate endoscopic and histologic findings of UGT in CD and BD.

Targeted Sequencing and Immunological Analysis Reveal the Involvement of Primary Immunodeficiency Genes in Pediatric IBD: a Japanese Multicenter Study.

Purpose: Pediatric inflammatory bowel disease (IBD) is a heterogeneous disorder caused by multiple factors. Although genetic and immunological analyses are required for a definitive diagnosis, no reports of a comprehensive genetic study of a Japanese population are available.

Methods: In total, 35 Japanese patients <16 years of age suffering from IBD, including 27 patients aged <6 years with very early-onset IBD, were enrolled in this multicenter study.

Mesalazine allergy in a boy with ulcerative colitis: clinical usefulness of mucosal biopsy criteria.

5-Aminosalicylic acid preparations have been used as first-line drugs for treatment of ulcerative colitis (UC). However, some patients with UC present with exacerbation of symptoms because of allergy to mesalazine. Diagnosis of mesalazine allergy in active UC may be challenging because its symptoms mimic those of UC.

Endoscopic and clinical evaluation of treatment and prognosis of Cronkhite-Canada syndrome: a Japanese nationwide survey.

Background: First reported in 1955, Cronkhite-Canada syndrome (CCS), a rare syndrome characterized by ectodermal abnormalities and inflammatory changes of the gastrointestinal tract mucosa, has been associated with a poor prognosis and life-threatening malignant complications. In a large population survey, we endeavored to characterize the course and treatment outcome of CCS through clinical and endoscopic assessment, and to explore its optimal treatment and surveillance strategy.

Methods: A retrospective analysis of 210 patients with CCS was conducted via a questionnaire-based nationwide survey of 983 teaching hospitals located throughout Japan.

[Disappearance of a gastric lesion following modified FOLFOX6 chemotherapy in a patient with metastatic colorectal cancer: a case report and literature review].

A 48-year-old man with colorectal cancer and right inguinal lymph node metastasis had previously undergone radiotherapy and chemotherapy (uracil/tegafur/leucovorin) after a colostomy in another hospital before being referred to us. Esophagogastroduodenoscopy (EGD) revealed the presence of a gastric metastatic lesion. After three courses of treatment with a modified regimen of leucovorin plus 5-fluorouracil plus oxaliplatin-6 (mFOLFOX6), EGD revealed that the gastric lesion had disappeared; computed tomography revealed that the size of the primary tumor and inguinal lymph node metastasis were markedly reduced.

[Ten cases of acute superior mesenteric artery occlusion].

This report deals with the perioperative management of ten patients with acute superior mesenteric artery occlusion. All ten patients survived after the surgery. Anesthesia in six patients were maintained with isoflurane, and in four patients with propofol, fentanyl and ketamine (PFK).

Bleeding Meckel diverticulum associated with a vitellointestinal artery aneurysm found on preoperative angiography: report of a case.

An 18-year-old man was admitted to a local hospital with abdominal pain and bloody stool. Upper and lower gastrointestinal endoscopy failed to show any bleeding sites; however, an angiography of the superior mesenteric artery done on hospital day 4 showed an abnormal artery with an aneurysm, branching from the ileal artery. This artery was thought to be the vitellointestinal artery, a feeding artery of Meckel diverticulum.

[Mediastinal emphysema after a punch on the back; report of a case].

A 19-year-old man was punched on the back, and anterior chest pain appeared about 3 hours after injury. The patient was consulted a physician complaining of anterior chest pain. On chest X-ray, mediastinal emphysema was suspected, and transferred to our hospital.