The FMF phenotype is known to be more severe in patients carrying the p.M694V mutation. This report describes 2 molecules secreted by unconventional secretory pathways, S100A12 and IL-18, whose concentrations correlated with clinical disease activity and genotype in patients with FMF. In this clinically and genetically heterogeneous disease, management of these surrogate markers might help to improve patient care and outcomes.

Patients with pancreatic diseases should be screened for diabetes by means of an oral glucose tolerance test. There is a close inverse relationship between pancreatic β-cell loss and postchallenge hyperglycemia. The risk of hypoglycemia may be increased in patients with pancreaticogenic diabetes. Newly diagnosed diabetes may be a harbinger of pancreatic cancer. There is increasing evidence suggesting an increased risk for (pancreatic) cancer and pancreatitis in patients with diabetes mellitus. Further studies on the ideal glucose-lowering treatment of patients with pancreaticogenic diabetes will be required.

We assessed quality of life (QOL) and disease activity in patients with Familial Mediterranean fever (FMF) of Turkish ancestry living in Germany or Turkey and conducted a correlation with FMF disease activity. 40 FMF patients in Turkey (TR), 40 FMF patients in Germany (G) and 40 healthy controls in Germany (C) were included. QOL was evaluated with the short form of the World Health Organisation Quality of Life scale (WHOQOL-BREF). FMF disease activity was examined with the Pras score. Mean age was TR 30.5 ± 10.6, G 35.2 ± 10.2, C 34.6 ± 10.7. Of the 120 participants, 77 were female. FMF patients in TR and G had a significantly decreased QOL physical health domain compared to controls (TR 59.7 ± 18.8, G 60.4 ± 19.4, C 76.5 ± 14.6). Turkish FMF patients had a lower QOL environment domain compared to controls (TR 62.3 ± 17.5, G 69.7 ± 16.5, C 72.3 ± 13.5). In the other QOL domains, no significant differences were found. The differences in QOL were robust to a regression analysis. No significant correlation between QOL and FMF disease activity was found. German FMF patients had longer duration of disease, younger age at onset and longer delay from disease onset to colchicine treatment. A total of 5 of 40 German FMF patients were not taking colchicine (TR:0). Erythrocyte sedimentation rate was lowest in TR with significant difference between TR and G as well as G and C (TR 13.2 ± 10.3, G 27.8 ± 19.4, C 16.3 ± 12.8 mm/h). C-reactive protein did not differ between TR and G. FMF has an important impact on QOL physical health domain. No correlation between FMF disease activity and the WHOQOL-BREF could be found.

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Familial Mediterranean fever (FMF) is the most inherited common autoinflammatory disease (AID) with mutations in the MEFV (MEditerraneanFeVer) gene.The Mor- and Pras-Score modified for children and C-reactive protein (CRP) were used to assess FMF disease severity in Germany. We evaluate the applicability of the 2 severity scores and the correlations between ethnic origin, phenotype, and genotype.Among 242 children (median 5 age at diagnosis), we detected 431 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The 5 most -frequent alterations were p.Met694Val (55.2%), p.Met680lle (11.8%), p.Val726Ala (10%), p.Glu148Gln (7.9%) and p.Met694IIe (2.3%). The prevailing ancestries of 223 cases were Turkish (82.5%) and Lebanese (8.1%). Homozygous p.Met694Val substitution (30.2%) was associated with a more severe disease activity by Mor-Score, as well as with a higher mean CRP (74 mg/l) compared to patients with other mutations. Indeed, Mor- and Pras-Score were inconsistent with each other. A typical distribution of mutations in different ethnic populations was obvious, but not statistically verifiable due to the low number of cases.The homozygous p.Met694Val substitution was associated with a more severe disease activity in our German cohort. The common severity scores were inconsistent in -children.

IntroductionCases of gallstone ileus account for 1% to 4% of all instances of mechanical bowel obstruction. The majority of obstructing gallstones are located in the terminal ileum. Less than 10% of impacted gallstones are located in the duodenum. A gastric outlet obstruction secondary to a gallstone ileus is known as Bouveret syndrome. Gallstones usually enter the bowel through a biliary enteral fistula. Little is known about the formation of such fistulae in the course of gallstone disease.Case presentationWe report the case of a 72-year-old Caucasian woman born in Germany with a gastric outlet obstruction due to a gallstone ileus (Bouveret syndrome), with a large gallstone impacted in the third part of the duodenum. Diagnostic investigations of our patient included plain abdominal films, gastroscopy and abdominal computed tomography, which showed a biliary enteric fistula between the gallbladder and the duodenal bulb. Our patient was successfully treated by laparotomy, duodenotomy, extraction of the stone, cholecystectomy, and resection of the fistula in a one-stage surgical approach. Histopathological examination showed chronic and acute cholecystitis, with perforated ulceration of the duodenal wall and acute purulent inflammation of the surrounding fatty tissue. Four months prior to developing a gallstone ileus our patient had been hospitalized for cholecystitis, a large gallstone in the gallbladder, cholangitis and a small obstructing gallstone in the common biliary duct. She had been treated with endoscopic retrograde cholangiopancreatography, endoscopic biliary sphincterotomy, balloon extraction of the common biliary duct gallstone, and intravenous antibiotics. At the time of her first presentation, abdominal ultrasound and endoscopic examination (including esophagogastroduodenoscopy and endoscopic retrograde cholangiopancreatography) had not shown any evidence of a biliary enteral fistula. In the four months preceding the gallstone ileus our patient had been asymptomatic.ConclusionIn patients known to have gallstone disease presenting with symptoms of ileus, the differential diagnosis of a gallstone ileus should be considered even in the absence of preceding symptoms related to the gallbladder disease. Gallstones large enough to cause intestinal obstruction usually enter the bowel by a biliary enteral fistula. During the formation of such a fistula, patients can be asymptomatic.

BACKGROUND Hyperuricemia is very common after renal transplantation. It is associated with an increased risk of cardiovascular events and graft loss. To date, however, treatment is only recommended in symptomatic disease. MATERIAL AND METHODS We included 503 adult patients who underwent kidney transplantation at the Charité-Universitätsmedizin Berlin in this retrospective study. Patients were followed up for up to 120 months. All-cause mortality, graft survival, changes in level of serum uric acid (SUA), and estimated glomerular filtration rate (eGFR) were analyzed. RESULTS At 12 months post-transplantation, 225 patients had a serum uric acid (SUA) level >7 mg/dl: 52 patients were treated with allopurinol, 37 with benzbromarone, and 136 patients received no medication for hyperuricemia (control). At 12 months, eGFR did not differ between groups (p=0.15) but treated patients had higher SUA levels (p<0.001) compared to the control group. SUA-lowering treatment was associated with a lower risk of all-cause mortality (p=0.013) and graft loss (p=0.014) compared to controls. At 120 months, patients in the treatment group had lower SUA levels (p=0.001) and higher eGFR (p<0.001) compared to the control group. CONCLUSIONS Treatment of asymptomatic hyperuricemia was associated with a substantial benefit in patient and graft survival.

BackgroundToday more than two million people with Turkish migration background live in Germany making them the largest ethnic minority in the country. Data concerning language skills and the perception of medical information in hospitalised patients with Turkish migration background (T) are scarce. Our study is the first to gather quantitative information on this important subject.MethodsT and hospitalised German patients without migration background (G) of our university hospital were prospectively included into a cross-sectional study and completed a questionnaire - each group in the appropriate language (T: Turkish, G: German).Results121 T and 121 G were included. Groups significantly differed in age (T: 44.9 ± 17.8, G: 56.9 ± 16.7y) and proportion of males (T: 37.2, G: 54.5%) but not regarding the proportion of college graduates (T: 19.3, G: 15.7%). The majority of T was born in Turkey (71%) and is of Turkish nationality (66%). 74% of T speak mainly Turkish at home; however, 73% speak German at work. 74.4% of T self-rated their German linguistic proficiency as “average” or better while 25.6% reported it as “very bad” or “bad”. 10.7% of T need translation in order to pursue everyday activities. T were significantly less satisfied with the physician’s information on disease and estimated to understand significantly less of what the physician told them: 46.3% of T estimated their reception of the physician’s information to be “average” or worse. 43.3% of T had the impression that it would have helped them “much” or “very much” to be aided by an interpreter at the hospital. The information transmitted while giving informed consent to invasive medical procedure was judged to be “mostly” or “completely” sufficient by the majority of T (76%) and G (89.8%). In this setting 37 of 96 T (38.5%) reported being helped by an interpreter – in most cases (64.9%) a family member.ConclusionAlthough the majority of patients with Turkish migration background have spent most of their lives in Germany (28.94 ± 10.41y) a large part of this population has limited German language skills and difficulties obtaining medical information when hospitalised.