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To implement personalized medicine, we established a large-scale patient cohort, BioBank Japan, in 2003. BioBank Japan contains DNA, serum, and clinical information derived from approximately 200,000 patients with 47 diseases. Serum and clinical information were collected annually until 2012. We analyzed clinical information of participants at enrollment, including age, sex, body mass index, hypertension, and smoking and drinking status, across 47 diseases, and compared the results with the Japanese database on Patient Survey and National Health and Nutrition Survey. We conducted multivariate logistic regression analysis, adjusting for sex and age, to assess the association between family history and disease development. Distribution of age at enrollment reflected the typical age of disease onset. Analysis of the clinical information revealed strong associations between smoking and chronic obstructive pulmonary disease, drinking and esophageal cancer, high body mass index and metabolic disease, and hypertension and cardiovascular disease. Logistic regression analysis showed that individuals with a family history of keloid exhibited a higher odds ratio than those without a family history, highlighting the strong impact of host genetic factor(s) on disease onset. Cross-sectional analysis of the clinical information of participants at enrollment revealed characteristics of the present cohort. Analysis of family history revealed the impact of host genetic factors on each disease. BioBank Japan, by publicly distributing DNA, serum, and clinical information, could be a fundamental infrastructure for the implementation of personalized medicine. •The BioBank Japan Project (BBJ) annually collected clinical information.•Analysis of the clinical information at enrollment characterized the BBJ cohort.•Analysis of family history revealed impacts of host genetic factors on the diseases.

Pancreatitis is the most common and serious complication of diagnostic and therapeutic ERCP. The aim of this study is to examine the potential patient- and procedure-related risk factors for post-ERCP pancreatitis in a prospective multicenter study. A 160-variable database was prospectively collected by a defined protocol on patients undergoing diagnostic or therapeutic ERCP at 15 centers in the Midwest Pancreaticobiliary Group and participating in a randomized controlled study evaluating whether prophylactic corticosteroids will reduce the incidence of post-ERCP pancreatitis. Data were collected prior to the procedure, at the time of procedure, and 24-72 h after discharge. Post-ERCP pancreatitis was diagnosed and its severity graded according to consensus criteria. Of the 1,115 patients enrolled, diagnostic ERCP with or without sphincter of Oddi manometry (SOM) was performed in 536 (48.1%) and therapeutic ERCP in 579 (51.9%). Suspected sphincter of Oddi dysfunction (SOD) was the indication for the ERCP in 378 patients (33.9%). Pancreatitis developed in 168 patients (15.1%) and was graded mild in 112 (10%), moderate in 45 (4%), and severe in 11(1%). There was no difference in the incidence of pancreatitis or the frequency of investigated potential pancreatitis risk factors between the corticosteroid and placebo groups. By univariate analysis, the incidence of post-ERCP pancreatitis was significantly higher in 19 of 30 investigated variables. In the multivariate risk model, significant risk factors with adjusted odds ratios (OR) were: minor papilla sphincterotomy (OR: 3.8), suspected SOD (OR: 2.6), history of post-ERCP pancreatitis (OR: 2.0), age <60 yr (OR: 1.6), > or =2 contrast injections into the pancreatic duct (OR: 1.5), and trainee involvement (OR: 1.5). Female gender, history of recurrent idiopathic pancreatitis, pancreas divisum, SOM, difficult cannulation, and major papilla sphincterotomy (either biliary or pancreatic) were not multivariate risk factors for post-ERCP pancreatitis. This study emphasizes the role of patient factors (age, SOD, prior history of post-ERCP pancreatitis) and technical factors (number of PD injections, minor papilla sphincterotomy, and operator experience) as the determining high-risk predictors for post-ERCP pancreatitis.

To evaluate if using a soft-tipped guidewire to cannulate the common bile duct may ameliorate development of post-ERCP pancreatitis and facilitate cannulation of the CBD. A single-center, blinded, randomized trial of conventional cannulation technique using sphinctertome and contrast injection versus guidewire cannulation technique. We prospectively randomized 300 patients to conventional cannulation (group I) or guidewire cannulation (group II) technique. Primary outcome measure was incidence of acute pancreatitis and secondary outcome measures were ease of cannulation of common bile duct (assessed by attempts required for common bile duct cannulation & rates of precut sphincterotomy) and overall complication rates. Guidewire cannulation was associated with significantly lower likelihood of post-ERCP pancreatitis (adjusted OR 0.43, 95% CI 0.21-0.89, P= 0.02). Twenty-five patients (16.6%) in group I and thirteen patients (8.6%) in group II developed acute pancreatitis, P= 0.037. All instances of pancreatitis were mild. There were more women in group II; 41 in group I and 59 in group II, P= 0.028. Otherwise the two groups were comparable for age, age under 35 yr, indication for ERCP, diagnosis, and number of patients with SOD. The number of patients requiring 0-3, 4-6, and 7-10 attempts for successful cannulation of the common bile duct were 87, 48, and 15 in group I and 117, 24, and 9 in group II, respectively, P= 0.001. A total of 33 patients in group I and 13 patients in group II required precut sphincterotomy, P= 0.007. Rates of accidental pancreatic duct cannulation were 21 in group I and 27 in group II, P= 0.34. Rates of overall complication were not significantly different in the two groups. Guidewire technique for bile duct cannulation lowers likelihood of post-ERCP pancreatitis by facilitating cannulation and reducing need for precut sphincterotomy.

Racial differences in susceptibility and progression of pancreatitis have been reported in epidemiologic studies using administrative or retrospective data. There has been little study, however, on the clinical profile, causes, and outcome of chronic pancreatitis (CP) in black patients. We analyzed data on black patients with CP prospectively enrolled in the multicenter North American Pancreatitis Studies from 26 US centers during the years 2000-2014. CP was defined by definitive evidence on imaging studies or histology. Information on demographics, etiology, risk factors, disease phenotype, treatment, and perceived effectiveness was obtained from responses to detailed questionnaires completed by both patients and physicians. Of the 1,159 patients enrolled, 248 (21%) were black. When compared with whites, blacks were significantly more likely to be male (60.9 vs. 53%), ever (88.2 vs. 71.8%), or current smokers (64.2 vs. 45.9%), or have a physician-defined alcohol etiology (77 vs. 41.9%). There was no overall difference in the duration of CP although for alcoholic CP, blacks had a longer duration of disease (8.6 vs. 6.97 years; P=0.02). Blacks were also significantly more likely to have advanced changes on pancreatic morphology (calcifications (63.3 vs. 55.2%), atrophy (43.2 vs. 34.6%), pancreatic ductal stricture or dilatation (72.6 vs. 65.5%) or common bile duct stricture (18.6 vs. 8.2%)) and function (endocrine insufficiency 39.9 vs. 30.2%). Moreover, the prevalence of any (94.7 vs. 83%), constant (62.6 vs. 51%), and severe (78.4 vs. 65.8%) pain and disability (35.1 vs. 21.4%) were significantly higher in blacks. Observed differences were in part related to variances in etiology and duration of disease. No differences in medical or endoscopic treatments were seen between races although prior cholecystectomy (31.1 vs. 19%) was more common in white patients. Differences were observed between blacks and whites in the underlying cause, morphologic expression, and pain characteristics of CP, which in part are explained by the underlying risk factor(s) with alcohol and tobacco being much more frequent in black patients as well as disease duration.

Moderately elevated blood levels of homocysteine are weakly correlated with coronary heart disease (CHD) risk, but causality remains uncertain. When folate levels are low, the TT genotype of the common C677T polymorphism (rs1801133) of the methylene tetrahydrofolate reductase gene (MTHFR) appreciably increases homocysteine levels, so \"Mendelian randomization\" studies using this variant as an instrumental variable could help test causality. Nineteen unpublished datasets were obtained (total 48,175 CHD cases and 67,961 controls) in which multiple genetic variants had been measured, including MTHFR C677T. These datasets did not include measurements of blood homocysteine, but homocysteine levels would be expected to be about 20% higher with TT than with CC genotype in the populations studied. In meta-analyses of these unpublished datasets, the case-control CHD odds ratio (OR) and 95% CI comparing TT versus CC homozygotes was 1.02 (0.98-1.07; p = 0.28) overall, and 1.01 (0.95-1.07) in unsupplemented low-folate populations. By contrast, in a slightly updated meta-analysis of the 86 published studies (28,617 CHD cases and 41,857 controls), the OR was 1.15 (1.09-1.21), significantly discrepant (p = 0.001) with the OR in the unpublished datasets. Within the meta-analysis of published studies, the OR was 1.12 (1.04-1.21) in the 14 larger studies (those with variance of log OR<0.05; total 13,119 cases) and 1.18 (1.09-1.28) in the 72 smaller ones (total 15,498 cases). The CI for the overall result from large unpublished datasets shows lifelong moderate homocysteine elevation has little or no effect on CHD. The discrepant overall result from previously published studies reflects publication bias or methodological problems.

Recent advances in genetic testing technology have made chromosome microarray analysis (CMA) a first-tier clinical diagnostic test for Autism Spectrum Disorders (ASDs). Two main types of microarrays are available, single nucleotide polymorphism (SNP) arrays and array comparative genomic hybridization (aCGH), each with its own advantages and disadvantages in ASDs testing. Rare genetic variants, and copy number variants (CNVs) in particular, have been shown to play a major role in ASDs. More than 200 autism susceptibility genes have been identified to date, and complex patterns of inheritance, such as oligogenic heterozygosity, appear to contribute to the etiopathogenesis of ASDs. Incomplete penetrance and variable expressivity represent particular challenges in the interpretation of CMA testing of autistic individuals. This review aims to provide an overview of autism genetics for the practicing physician and gives hands-on advice on how to follow-up on abnormal CMA findings in individuals with neuropsychiatric disorders.

Stent clogging is the major limitation of palliative treatment for malignant biliary obstruction. Metal stents have much better patency than plastic stents, but are more expensive. Preliminary data suggest that the recently designed plastic (Tannenbaum) stent has better duration of patency than the polyethylene stent. This study aimed to compare the efficacy and cost effectiveness between the Tannenbaum stent without side holes and the uncovered metal stent for patients with malignant distal common bile duct obstruction. In this study, 47 patients (median age, 73 years, range, 56-86 years) with inoperable malignant distal common bile duct strictures were prospectively randomized to receive either a Tannenbaum stent (n = 24) or an uncovered self-expandable metal stent (n = 23). The patients were clinically evaluated, and biochemical tests were analyzed if necessary until their death or surgery for gastric outlet obstruction. Cumulative first stent patency and patient survival were compared between the two groups. Cost-effectiveness analysis also was performed for the two study groups. The two groups were comparable in terms of age, gender, and diagnosis. The median first stent patency was longer in the metal group than in the Tannenbaum stent group (255 vs 123.5 days; p = 0.002). There was no significant difference in survival between the two groups. The total cost associated with the Tannenbaum stents was lower than for the metal stents (17,700 vs 30,100 euros; p = 0.001), especially for patients with liver metastases (3,000 vs 6,900 euros; p < 0.001). Metal stent placement is an effective treatment for inoperable malignant distal common bile duct obstruction, but Tannenbaum stent placement is a cost-saving strategy, as compared with metal stent placement, especially for patients with liver metastases and expected short survival time.

Objective. Common bile duct stone (CBDS) recurrence is associated with bile microbial structure. This study explored the structure of bile microbiome in patients with recurrent CBDS, and its relationship with the recurrence of CBDS. Methods. Patients with recurrent CBDS (recurrence group) and controls without CBDS (control group) requiring endoscopic retrograde cholangiopancreatography (ERCP) were prospectively included. The control group was noncholelithiasis patients, mainly including benign and malignant biliary stenosis. Bile samples were collected, and bile microbiome structure was analyzed by the 16S rRNA encoding gene (V3–V4). Results. A total of 27 patients in the recurrence group and 19 patients in the control group were included. The diversity of bile microbiome in the recurrence group was significantly lower than that in the control group (Shannon index: 2.285 vs. 5.612, P=0.001). In terms of bile microbial distribution, patients with recurrent CBDS had significantly higher Proteobacteria (86.72% vs. 64.92%, P=0.037), while Bacteroidetes (3.16% vs. 8.53%, P=0.001) and Actinobacteria (0.29% vs. 6.74%, P=0.001) are significantly lower compared with the control group at the phylum level. At the genus level, the recurrence group was mainly the Escherichia, and there was a variety of more evenly distributed microbiome in the control group, with significant differences between the two groups. Conclusion. The diversity of bile microbiome in patients with recurrent CBDS is lower. Patients with recurrent CBDS may have bile microbial imbalance, which may be related to the repeated formation of CBDS.

Background Mirizzi syndrome and cholecystoenteric fistula with or without gallstone ileus are late complications of gallstone disease. We previously suggested that the natural history of Mirizzi syndrome may not end with just a cholecystobiliary fistula and that the continuous inflammation in the triangle of Calot area may result in a complex fistula involving the biliary tract and the adjacent viscera. The purpose of this study was to establish the relationship of Mirizzi syndrome with cholecystoenteric fistulas. Methods We retrospectively reviewed the records of all patients older than aged 18 years submitted to emergency or elective cholecystectomy from 1995 to 2006. Of 5,673 cholecystectomies performed during that period, we found 327 (5.7%) patients with Mirizzi syndrome and 105 (1.8%) patients with cholecystoenteric fistula. Ninety-four (89.5%) patients with cholecystoenteric fistula also had an associated Mirizzi syndrome. Results Cholecystoenteric fistula was associated with Mirizzi syndrome ( p  < 0.0001), increased age was associated with Mirizzi syndrome and cholecystoenteric fistula ( p  < 0.0001), and female gender was associated with Mirizzi syndrome ( p  < 0.0001). Conclusion When during surgery for gallstone disease a cholecystoenteric fistula is encountered, the possibility of an associated Mirizzi syndrome must be considered. The findings of this study confirm the association of Mirizzi syndrome with cholecystoenteric fistula.