OBJECTIVETo explore the clinical features and molecular mutation of early-onset familial adenomatous polyposis(FAP) in childhood.

METHODThe clinical features, endoscopic findings, pathology and therapeutic effect of sulindac during 11 years follow-up in a child with FAP were retrospectively reviewed . Adenomatous polyposis coli (APC) gene mutation analysis was performed by PCR and first generation sequencing.

RESULTThis 6-year-old girl was admitted for intermittent bloody stool during the last one and a half years. Colonoscopy showed hundreds of polyps in the rectum and colon. Pathological examination revealed tubular adenomas with high grade dysplasia. During the follow-up period of 11 years, the child presented intermittent mucous bloody stool. Endoscopy showed the number of polyps in colon and rectum increased to thousands, and found multiple polyps in gastric fundus and body.She was treated with sulindac at the age of 13. Then the number of polyps and the grade of pathology showed a slight improvement and no carcinoma was seen on biopsy. She has not accepted surgery until now. Gene sequencing of this child revealed 5 bp deletion at codon 1,309 of exon 15 (c.3927_3931delAAAGA) of tumor suppressor gene, whereas none of her parents had the same mutation. And no polyps were found on her parents colonoscopy.

CONCLUSIONThis child with FAP had an early onset of this disease, and clinical conditions were exacerbated with age. Sulindac was partially effective in controlling size and number of polyps. The site of mutation in this case was consistent with classic FAP, and without family history, the mutation may be a sporadic one.

Adenomatous Polyposis Coli ; Biopsy ; Child ; Colonoscopy ; Female ; Gastrointestinal Hemorrhage ; Genes, APC ; Humans ; Mutation ; Polymerase Chain Reaction ; Rectum ; Retrospective Studies

PurposeTo investigate the relationship between left atrial volume index (LAVI) and severity of coronary lesions in patients with stable angina pectoris, so as to provide information for the evaluation of the severity of coronary artery disease (CAD). Materials and MethodsAccording to the results of coronary angiography, 279 patients with stable angina pectoris and 92 healthy people were as control group, all subjects were divided into four groups: control group (n=92), single-vessel CAD group (n=116), double-vessel CAD group (n=93) and triple-vessel group (n=70). Each group was compared in the aspects of demographic characteristics, history of illness, liver and kidney functions and parameter's difference in echocardiogram; the correlation between LAVI and Gensini score was analyzed; and the receiver operating characteristic (ROC) curve was used to identify the predictive value of LAVI in severity of coronary lesions.ResultsCompared with the control group, the double-vessel and triple-vessel CAD groups had significantly larger left atrial diameter (P<0.05). In triple-vessel CAD group, the left atrial diameter was significantly larger than that in the single-vessel CAD group (P<0.05), and the left ventricular end-diastolic diameter was significantly larger than that in the control group and in the single-vessel CAD group (P<0.05), and the E/Em and LVMI were significantly higher than those in other groups (P<0.05). The LAVI was higher in patients with CAD compared with those in the control group and the LAVI in the triple-vessel CAD group was significantly higher than that in single-vessel CAD group and double-vessel CAD group (P<0.05); the LAVI was correlated positively with Gensini score (r=0.499,P<0.01). LAVI had certain value in predicting triple-vessel CAD (AUC=0.782,P<0.01). The results of multi-factor Logistic regression analysis showed that male patients with hypertension, mitral reflux, and multi-vessel CAD were more likely to had high LAVI.Conclusion The worsening LV diastolic function is associated with the increasing severity of coronary artery lesions, and LAVI may have predictive value for severity of CAD.

Objective To evaluate the feasibility of diagnostic and therapeutic peroral direct cholan-gioscopy (PDCS)using an ultra-slim upper endoscopy assisted by a snare.Methods Between November 2014 and January 2015,8 patients underwent PDCS with assistance of an ultra-slim endoscopy.After endo-scopic papillary balloon dilation,the duodenoscopy was withdrew,an ultra-slim endoscopy was inserted di-rectly into the biliary tract assisted by a snare,and biopsy or laser lithotripsy was performed.The snare was closed tightly in the bent portion of the scope,and the snare was pulled while scope shaft had to become the form of U loop by counterclockwise rotation,in order to advance the scope into common bile duct.Results PDCS succeeded in all eight cases,one common hepatic duct adenoma was diagnosed by biopsy,and con-firmed by surgery;one benign biliary stricture was diagnosed by PDCS;laser lithotripsy was successfully per-formed in 4 patients with large CBD stones;bile duct clearance was verified by PDCS in two patients who was suspected of residual CBD stones.No perforation,bleeding or post-operative pancreatitis was found.Con-clusion PDCS using an ultra-slim gastroscopy assisted by a snare is a safe,simple and practical procedure in the diagnosis and treatment of biliary tract diseases.

Objective We retrospectively analyzed the causes,diagnosis,clinical characteristics,treatment and prognosis of 17 patients with rhabdomyolysis.Methods Rhabdomyolysis cases diagnosed from January 2005 to March 2014 in our department were included.Results A total of 17 rhabdomyolysis patients (male 13,mean age (60.4 ± 15.7)years) were analyzed.Four cases had coronary heart disease combined with hypertension,hyperlipaemia,atrial fibrillation,10 cases had dilated cardiomyopathy combined with coronary heart disease,hyperlipaemia,atrial fibrillation,8 cases had atrial fibrillation combined with hypertension,coronary heart disease,hyperlipaemia,1 patient had pulmonary embolism combined with hyperlipaemia,1 patient had aortic dissection combined with hypertension,10 hypertension patients were combined with coronary heart disease,hyperlipaemia,atrial fibrillation,aortic dissection and 1 patient with ventricular tachycardia was combined with depression.Various degrees of liver and kidney dysfunction,reduced hemoglobin and myoglobinuria were found in all patients.Fever was found in 7 cases,relevant neurological signs in 5 cases.Digestive tract discomfort and muscle weakness or muscle pain symptoms were seen in all patients during hospitalization.All cases underwent renal replacement therapy and respirator was used in 14 patients to support breathing.Post therapy,10 cases improved but 7 cases died.All 17 patients had history of statin use.Conclusion Statin may be the major cause of rhabdomyolysis in these patients,and the mortality of rhabdomyolysis is high despite various therapy stratigies.

BACKGROUNDHelicobacter pylori (Hp) is a common and potentially curable cause of gastric mucosa lesion. This study investigated the relationship of Hp infection with histological changes in gastric mucosa and gastric cancer in Hp-positive patients compared with Hp-eradication patients followed up for ten years.

METHODSFrom an initial group of 1 006 adults, 552 Hp-positive subjects were randomly assigned to a treatment group (T; n = 276) or a placebo group (P; n = 276). In the randomized, double-blind, placebo-controlled, parallel trial, T group subjects received oral doses of omeprazole, amoxicillin and clarithromycin for 1 week; those in the P group received a placebo. One month after treatment ended, a 13C urea breath test was performed, and Hp was undetectable in 88.89% of the T group. All subjects were followed at 1, 5, 8, and 10 years after treatment, with endoscopy and biopsies for histological examination.

RESULTSGastric mucosa inflammation was significantly milder in the T group than that in the P group one year after Hp eradication and this persisted for 10 years. Glandular atrophy and intestinal metaplasia (IM) had deteriorated in both groups during ten years. However, the increased score of glandular atrophy at both the gastric antrum and corpus, and IM only at the gastric antrum, in the P group was more obvious than that in the T group. During the 10 years, 9 patients were diagnosed with gastric cancer (2 in the T group; 7 in the P group; P = 0.176). When mucosal atrophy was absent at the gastric antrum and corpus when entering the study, the incidence of gastric cancer in the P group (n = 6) was much higher than that in the T group (n = 0, P = 0.013).

CONCLUSIONSHp eradication may significantly diminish and help halt progression of gastric mucosal inflammation and delay the development of IM and atrophy gastritis. Hp eradication is helpful for reducing the risk for gastric cancer, especially in the early stage of Hp infection.

Adult ; Aged ; Amoxicillin ; therapeutic use ; Anti-Bacterial Agents ; therapeutic use ; Clarithromycin ; therapeutic use ; Double-Blind Method ; Female ; Follow-Up Studies ; Gastric Mucosa ; drug effects ; pathology ; Gastritis, Atrophic ; diagnosis ; drug therapy ; Helicobacter Infections ; drug therapy ; Helicobacter pylori ; pathogenicity ; Humans ; Male ; Middle Aged ; Omeprazole ; therapeutic use ; Stomach Neoplasms ; diagnosis ; prevention & control

BACKGROUNDAutoimmune pancreatitis (AIP) is a chronic inflammatory disease of pancreas. We evaluated the clinical manifestations, imaging, and histological presentations of AIP in Chinese patients, and investigated the roles of immunoglobulin E (IgE) and allergic diseases in the diagnosis and pathogenesis of AIP.

METHODSThe clinical records of 22 patients diagnosed with AIP were reviewed and analyzed. All patients with AIP fulfilled the 2006 revised diagnostic criteria proposed by Japan Pancreas Society or the Korean Criteria for AIP.

RESULTSHalf (11/22) of AIP patients had allergic diseases. Twenty-one patients had elevated serum IgE levels, and 14 patients had IgE levels more than 3 times that of normal. There were no significant differences between the patients with higher or lower IgE, with or without allergic disease, in clinical features, laboratory tests, diffuse or focal lesions, or the choice of treatment methods; however, more complaints of body weight loss were observed in patients with higher IgE levels. Patients with higher IgE levels and with allergic diseases were more likely to have onset in March, April, May, August, September, or October. IgE levels decreased after therapy, but increased again during recurrence. Increased number of mast cells was found in the pancreatic tissue in AIP.

CONCLUSIONSIgE maybe a useful marker for monitoring therapeutic response and recurrence of AIP. Allergic processes may play an important role in the pathogenesis of AIP.

Adult ; Aged ; Aged, 80 and over ; Autoimmune Diseases ; blood ; Female ; Humans ; Hypersensitivity ; blood ; Immunoglobulin E ; blood ; Male ; Middle Aged ; Pancreatitis ; blood ; Retrospective Studies

Objective To evaluate the therapeutic effect and safety of forward-viewing,doublechannel endoscope in the process of ERCP in patients with bile duct diseases after Billroth-Ⅱ gastroenterostomy.Methods ERCP was applied to 46 patients with bile duct diseases using forward-viewing,doublechannel endoscope.All patients had the history of Billroth-Ⅱ gastroenterostomy.The success rate of selective cannulation,complication rate and the outcome of all the patients were recorded.Results The procedure succeeded in 38 patients with a success rate of 82.6％,and failed in 8.Of all the failing cases,the afferent loop couldn't be accessed in 6,failure in biliary cannulation in 2.Of 38 successful cases,bile duct stones were successfully removed in 31,metal stents placed for malignant bile duct obstruction in 4,and endoscopic balloon dilation for benign common bile duct stricture in 3.All patients recovered without complications of perforation,delayed bleeding or pancreatitis.Conclusion For patients with history of Billroth-Ⅱgastroenterostomy,ERCP with forward-viewing,double-channel endoscope yields to a higher success rate and lower complication rate.

Objective To characterize the clinical features of patients with cardiac amyloidosis (CA).Methods Totally 42 patients with CA admitted to Guangdong General Hospital since 2008 were included and retrospectively analyzed in the present study.CA was confirmed by abdomen and endocardium biopsy examination.Clinical manifestations,electrocardiogram and echocardiography were collected for the evaluation.Results Several clinic features are common in CA.In the present study,37 cases (88.1％) presented with chest tightness,dyspnea,20 cases(47.6％) with chest pain,27 cases(64.3％) with right heart failure,27 cases (64.3％) with fatigue,and 30 cases (71.4％) with renal insufficiency and proteinuria.Electrocardiogram (ECG) showed that 32 of the patients (76.2％) were with low voltage in limb leads,29 cases (69％) of them were with poor R wave progression in precordial leads,17 cases (40.5％) with ST-T change,28 cases(66.7％) with pseudo-necrotic Q wave and 36 cases (85.7％) with various kinds of arrhythmia.Echocardiography indicated that all of the subjects (100％) were with different degrees of left ventricular posterior wall or ventricular septal thickness,and left atrial hypertrophy with different degree of myocardial grain appearance or ground-glass opacity.Thirty-six cases (85.7％) were with pericardial effusion,and 27 cases (64.3％) were with abnormal left ventricular eject function.Conclusion For those who were with unexplained clinical cardiac insufficiency,renal insufficiency,myocardial hypertrophy,but normal of ventricular size in echocardiography and low voltage on ECG limb leads,a tissue biopsy from abdomen,labial glands or endocardium should be considered in the diagnosis of CA.

Objective To compare the medical economics and safety of colonic metallic stent implantation as a bridge to elective resection with traditional emergency resection.Methods Data of colonic cancer obstruction cases in emergency room from 2008 to 2013 were retrospectively analyzed and divided into stent group(colonic stent as a bridge to surgery) and control group(emergency surgery).Main parameters between the two groups were compared,including surgery-associated mortality and morbidity,colostomy rate and re-anastomosis rate,ICU admitted rate,average days and costs in hospital,and colonic stent insertion associated clinical success rate and mortality.Results Ten and 11 patients were included in stent group and control group respectively.Surgery associated morbidity and colostomy rates were both 0 in stent group,and 18.2％ and 100.0％ in control group.Days of hospitalization and costs were 23 days and 67 742 Yuan in stent group,and 49 days and 92 553 Yuan in control group.The surgery associated mortality rates both were 0 in the two groups.ICU admitted rates were 20％ and 18％ respectively.Conclusion Colonic stenting as a bridge to surgery has a high clinical success rate and has a lower morbidity and colostomy rate,shorter hospitalization days,less cost compared with traditional emergency surgery.This strategy for colonic cancer obstruction is of safety and great health economic value.

Objective To explore the endoscopic managements for biliary and pancreatic diseases in patients with the history of complex gastrointestinal surgery.Methods Data of four patients who underwent balloon-assisted enteroscopy after complex digestive surgeries (2 patients underwent Roux-en-Y reconstruction,2 others Whipple reconstruction) were retrospectively collected.One patient with bilio-intestinal anastomosis was explored by double-balloon enteroscope (DBE),and balloon-assisted enteroscopy combined with ERCP was used for other 3 patients.Results Therapeutic ERCP was successfully performed on one patient,and the diagnosis of 3 others were confirmed.No operation-related complications such as bleeding or perforation was observed.Conclusion Balloon-assisted enteroscopy combined with ERCP is an important diagnostic and therapeutic method for biliary and pancreatic diseases in the patients after complex gastrointestinal surgery.