Consensus for criteria of running a pediatric inflammatory bowel disease center using a modified Delphi approach.

BACKGROUND: Good quality of care for inflammatory bowel disease (IBD) depends on high-standard management and facility in the IBD center. Yet, there are no clear measures or criteria for evaluating pediatric IBD (PIBD) center in China. The aim of this study was to develop a comprehensive set of quality indicators (QIs) for evaluating PIBD center in China. METHODS: A modified Delphi consensus-based approach was used to identify a set of QIs of structure, process, and outcomes for defining the criteria. The process included an exhaustive search using complementary approaches to identify potential QIs, and two web-based voting rounds to select the QIs defining the criteria for PIBD center. RESULTS: A total of 101 QIs (35 structures, 48 processes and 18 outcomes) were included in this consensus. Structure QIs focused on the composition of multidisciplinary team, facilities and services that PIBD center should provide. Process QIs highlight core requirements in diagnosing, evaluating, treating PIBD, and disease follow-up. Outcome QIs mainly included criteria evaluating effectiveness of various interventions in PIBD centers. CONCLUSION: The present Delphi consensus developed a set of main QIs that may be useful for managing a PIBD center. Video Abstract.

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty-six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two-thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late-onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone-based or antisense oligonucleotide strategies for this particular type of myopathy.

Efficacy of thalidomide therapy in pediatric Crohn's disease with evidence of tuberculosis.

AIM: To evaluate the efficacy of thalidomide for treating troublesome cases of pediatric Crohn's disease (CD) with tuberculosis infection. METHODS: A retrospective study of clinical outcome among children treated with thalidomide was conducted. All patients had evidence of tuberculosis infection with a failure of anti-tuberculosis treatment for more than one year, and were subsequently diagnosed with CD. All the patients received thalidomide treatment with a starting dose of 1.2-2.5 mg/kg per day. Remission was defined as pediatric CD activity index less than or equal to 10. RESULTS: Ten patients with CD were treated with thalidomide at an average age of 7.2 years and followed up for a median of 22.2 mo. Clinical remission rate was 60% after 9-12 mo of thalidomide treatment. One patient with no response had an interleukin-10 receptor alpha gene mutation. Erythrocyte sedimentation rate, C-reactive protein and platelet count showed a dramatic decrease; hemoglobin level and weight improved significantly after thalidomide treatment when compared with the baseline values. CONCLUSION: Thalidomide is an effective and safe drug for remission of CD in pediatric patients who have been treated for tuberculosis.

Hemolytic anemia in alcoholic liver disease: Zieve syndrome: A case report and literature review.

RATIONALE: Zieve syndrome, a rarely reported disease resulting from alcohol abuse, consists of a triad of symptoms: hemolytic anemia, cholestatic jaundice, and transient hyperlipidemia. It is largely under-recognized and under-reported, possibly because of unawareness of the condition by physicians. Here, we report a case of Zieve syndrome managed at the Jilin University First Bethune Hospital. PATIENT CONCERNS: A 30-year-old Chinese woman presented with a 4-month history of fatigue, yellowish discoloration of the eyes, and tea-colored urine. She had been a heavy drinker for 2 years prior to onset of the disease with an average daily alcohol intake of 60 g/d and more than 80 g/d for the previous 6 months. DIAGNOSIS: The diagnosis of Zieve syndrome was confirmed based on hemolysis and cholestatic jaundice secondary to alcoholic liver disease and heavy drinking. Bone marrow biopsy and liver biopsy both supported the diagnosis. INTERVENTIONS: We treated her with abstinence from alcohol and supportive therapy. OUTCOMES: The patient was discharged 14 days after admission with an improvement in symptoms, which continued to subside during the 2-month follow-up period. LESSONS: Doctors confronted with hemolysis in a patient with alcoholic liver disease should be aware of the under-reported Zieve syndrome. Recognition of this syndrome could help doctors avoid unnecessary invasive procedures and emphasize the importance of alcohol abstinence as the mainstay of management. Glucocorticoids may not be useful in treating hemolytic anemia in Zieve syndrome.

Selective endoscopic ligation for treatment of upper gastrointestinal protuberant lesions.

This study explored the clinical value of endoscopic ligation for the treatment of upper gastrointestinal (GI) protuberant lesions in children. According to the appearance and size of lesions, we used different ligation techniques for the treatment of the lesions. Endoscopic ultrasonography was used for preliminary characterization of the lesions. One case diagnosed with Peutz-Jeghers syndrome was successfully treated by a detachable snare. Two cases with semi-pedunculated or broad-base lesions originating from the submucosal layer of the upper GI were treated with endoscopic variceal ligation; endoscopic examination showed that one case had complete healing 11 wk after ligation, while an ulcer scar was observed at the ligation site after 6 wk in the other case. All lesions were successfully ligated at the first attempt. No significant complications occurred either during or after the procedure. Selective endoscopic ligation of upper GI lesions is an effective and safe treatment for upper GI protuberant lesions in children.

Coordination and nursing care of pediatric patients undergoing double balloon enteroscopy.

AIM: To review safety, efficacy, and proper nursing care of double-balloon enteroscopy (DBE) in pediatric patients with small intestinal disease. METHODS: Our study included 37 patients with abdominal pain, diarrhea, passage of blood in the stools, and other symptoms, who underwent DBE from December 2006 to July 2010. DBE was retrograde in 36 procedures, antegrade in six, and from both ends in five. The diagnostic significance and salient points in nursing care are discussed in this article. RESULTS: At least one lesion was discovered in 28 out of 37 patients, which yielded a positive diagnosis in 75.7% of cases. Good bowel preparation and skilled nursing care not only shortened the procedure time, but could also alleviate patient discomfort and enhance the quality of examination. No serious procedure-related complications were observed in any cases. CONCLUSION: DBE is a new modality of endoscopic procedure that improves the standard of diagnosis and treatment of small bowel diseases in children. Good nursing care is essential to the successful execution of the procedure.

Treatment of pediatric refractory Crohn's disease with thalidomide.

AIM: To assess the efficacy and tolerability of thalidomide in pediatric Crohn's disease (CD). METHODS: Six patients with refractory CD received thalidomide at an initial dose of 2 mg/kg per day for one month, then increased to 3 mg/kg per day or decreased to 1 mg/kg per day, and again further reduced to 0.5 mg/kg per day, according to the individual patient's response to the drug. RESULTS: Remission was achieved within three months. Dramatic clinical improvement was demonstrated after thalidomide treatment. Endoscopic and pathological improvements were also observed after thalidomide treatment, which was well tolerated by all patients. CONCLUSION: Thalidomide is a useful drug for pediatric refractory CD.

[Application of double balloon enteroscopy in pediatric patients].

OBJECTIVE: Double balloon enteroscopy (DBE) is already an established modality of investigation in adults though its use in children has not yet been widely practiced. This study aimed to explore the method and safety of pediatric DBE and to evaluate its clinical value and applicability in the pediatric age group. METHOD: During the period from December, 2006 to October, 2009 DBE was performed on a total of 22 patients (age 4 to 16 years) at the hospital. The indications included: gastrointestinal bleeding, chronic abdominal pain, suspected Crohn's disease and hypoalbuminemia. With the aid of a specially designed overtube, and the alternate inflation and deflation of the balloons at the tip of the endoscope and overtube, the enteroscope was advanced in the small intestine either antegrade or retrograde by telescoping the small intestine along its way. The range of intestine covered, pathology encountered, and tolerability of the examination by the subjects were recorded during the procedure. RESULT: A total of 25 DBE's were performed: antegrade in 3 and retrograde in 22. In 3 patients, both antegrade and retrograde enteroscopy was performed. All the procedures were performed under anesthesia. Inclusive of anesthesia and post-procedure recovery, each procedure took approximately 90 to 120 minutes. The pathology was identified in 18 out of 22 patients (81.82%), including: 7 cases of Crohn's disease, 3 of Meckel's diverticulum, combined ileal and colonic polyp in one, intestinal lymphangiectasis in one, amebiasis in one, small intestinal hemorrhage in 3 and non-specific ileitis in 2. No serious complications such as aspiration pneumonia, perforation or hemorrhage occurred and all patients tolerated the procedures well. CONCLUSION: DBE is a useful and feasible procedure in the pediatric patients. Young patients can tolerate the procedure well.