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Patient satisfaction is viewed as essential for a successful outcome of bariatric surgery. Few studies have explored long-term satisfaction prospectively. This study aimed to examine pre- and post-surgery predictors for satisfaction with follow-up care, and change in outcome satisfaction from one to 5 years after bariatric surgery.A sample of 210 participants was recruited from a single treatment center. Self-reported and medical record data regarding mental and somatic health, body image, follow-up attendance, and weight loss were obtained before, 1 year, and 5 years after surgery.Over 90% of the participants were satisfied with the results and treatment 1 year after surgery, while 69% had their outcome expectations fulfilled and 62% were satisfied with the follow-up 5 years after surgery. A shift from initial satisfaction to unfulfillment of expectations was predicted by baseline body dissatisfaction, greater percentage of weight regain after initial weight loss, and more discomfort from somatic symptoms 5 years after surgery. In addition to symptom discomfort, worry about surgery predicted satisfaction with follow-up care.At 5 years, one-fifth of those initially satisfied reported that bariatric surgery had failed to meet their expectations. This suggests that outcome expectations related to weight loss, somatic symptoms, and body image need to be addressed both before and after bariatric surgery.

Background Primary sclerosing cholangitis (PSC) is a chronic cholestatic disease affecting the intra- and/or extrahepatic biliary tree with inflammation and progressive stricture formation that can lead to cirrhosis, end stage liver failure and liver transplantation. Known risk factors include inflammatory bowel diseases (IBD), mainly ulcerative colitis (UC). Highest reported incidence in an adult population is 1.2-1.3/100.000 in Norway and Sweden, where 60-76% have IBD. The aim of this study was to investigate epidemiology of PSC in Iceland in the years 1992 to 2012 and the patients outcomes. Methods A search for the diagnosis "cholangitis" (ICD-10, K83.0) was performed in the database for hospital records in Landspitali (The National University Hospital of Iceland, LSH) and Akureyri Hospital from 1992 to 2012. We also looked through all ERCP and MRCP imaging done in LSH in the same period along with a text search in both the hospital records and the pathology database for liver biopsies. Data on these patients was collected until the end of 2016. Results A total of 42 patient got the diagnosis PSC within the period. Median age at diagnosis was 34 years, 67% were male and 90% adults (≥18 years old). Mean incidence per year was 0.69/100.000. Overall 88% of patients had IBD, thereof 89% UC. Seven patients have been diagnosed with cancer, four with cancer in the bile ducts and one in the gallbladder. Within the study period a total of five patients died (12%), 51 months (median) from diagnosis and three from cholangiocarcinoma, 51 months (median) from diagnosis. Three patients (7%) underwent liver transplantation, one required a transplant two times. Conclusions The incidence of PSC in Iceland turned out to be lower than in our neighbouring countries in Scandinavia. It is unclear if this is due to underdiagnosis or, more likely, that PSC is simply more uncommon in Iceland. Overall 7% underwent liver transplantation and 12% died within the study period, main cause of mortality being cholangiocarcinoma.

Limited data exist on the changes in the epidemiology of pancreatic cancer and outcomes over the last decades in population-based cohorts. We aimed to compare the incidence of pancreatic cancer, diagnostic, treatment and survival among patients diagnosed over the period 1986-2009.A retrospective, nationwide, population-based study. All patients diagnosed with pancreatic cancer in Iceland in two periods, 1986-1997 (P1) and 1998-2009 (P2) were identified through the Icelandic Cancer Registry and relevant clinical information obtained from medical records.A total of 645 patients were identified, 296 in P1 and 349 in P2 (NS). The incidence during P1 was 6.8 per 100,000 inhabitants and 6.2 during P2 (NS). Among biopsy-proven cancers, adenocarcinoma was diagnosed in 89% of the cases in P1 and in P2 in 93% of the cases. Overall 38 (14%) in P1 underwent resection and 22 (7%) in P2 (p .0004). Patients diagnosed in P2 had longer survival at 6 months (p = .015, log-rank test) and one year (p = .0206) after diagnosis. A total of 4/296 (1.4%) in P1 survived more than 5 years and 3/349 (0.9%) in P2 (NS).The incidence among patients with pancreatic cancer in Iceland did not show major changes during the last 20 years. Diagnostic approach has changed considerably demonstrating more patients that are not 'resectable'. Survival rate at 6 months and one year has improved over the last two decades whereas the 5-year prognosis has not improved.

Primary sclerosing cholangitis (PSC) is a chronic cholestatic disease affecting the intra- and/or extrahepatic biliary tree with inflammation and progressive stricture formation that can lead to cirrhosis, end stage liver failure and liver transplantation. Known risk factors include inflammatory bowel diseases (IBD), mainly ulcerative colitis (UC). Highest reported incidence in an adult population is 1.2-1.3/100.000 in Norway and Sweden, where 60-76% have IBD. The aim of this study was to investigate epidemiology of PSC in Iceland in the years 1992 to 2012 and the patients outcomes.A search for the diagnosis "cholangitis" (ICD-10, K83.0) was performed in the database for hospital records in Landspítali (The National University Hospital of Iceland, LSH) and Akureyri Hospital from 1992 to 2012. We also looked through all ERCP and MRCP imaging done in LSH in the same period along with a text search in both the hospital records and the pathology database for liver biopsies. Data on these patients was collected until the end of 2016.A total of 42 patient got the diagnosis PSC within the period. Median age at diagnosis was 34 years, 67% were male and 90% adults (≥18 years old). Mean incidence per year was 0.69/100.000. Overall 88% of patients had IBD, thereof 89% UC. Seven patients have been diagnosed with cancer, four with cancer in the bile ducts and one in the gallbladder. Within the study period a total of five patients died (12%), 51 months (median) from diagnosis and three from cholangiocarcinoma, 51 months (median) from diagnosis. Three patients (7%) underwent liver transplantation, one required a transplant two times.The incidence of PSC in Iceland turned out to be lower than in our neighbouring countries in Scandinavia. It is unclear if this is due to underdiagnosis or, more likely, that PSC is simply more uncommon in Iceland. Overall 7% underwent liver transplantation and 12% died within the study period, main cause of mortality being cholangiocarcinoma.

Bariatric surgery has been performed at Oslo University Hospital since 2004. We wished to describe patient characteristics, use of surgical methods and perioperative complications in the period 2004-14.We performed a retrospective analysis of prospective data collected for the period 2004-14. Complications include events during hospitalisation and up to 6-8 weeks postoperatively.Altogether 2 127 patients underwent surgery for morbid obesity, whereof 1 468 were women. Average age and body mass index were 42 years (range 17-73) and 46.2 kg/m2 (range 26-92). A total of 512 had a body mass index ≥ 50 kg/m2. Obesity-related sequelae were registered in 1 196 patients before surgery. Gastric bypass was performed in 1 966 patients, gastric sleeve resection in 122 (17 of these later underwent duodenal switch) and duodenal switch in 56 patients. All patients were operated laparoscopically, and four procedures were converted to laparotomy. Median hospitalisation time was two days (range 1-78). Complications were registered in 209 patients, 75 of whom had severe complications (grade ≥ IIIb on the Clavien-Dindo classification system). Patients with a body mass index ≥ 50 kg/m2 had a higher incidence of complications (12.5 % vs 8.9 %). Altogether 67 patients underwent further surgery. Six patients died, two of whom more than 30 days after the operation. The incidence of complications was reduced during the period.Bariatric surgery may be performed laparoscopically with a low incidence of complications and short hospitalisation times. A large proportion of the patients who underwent surgery had obesity-related sequalae.

Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case presentation: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population. We assessed all coding and splicing variants, prioritizing variants in genes known to cause interstitial lung disease. We detected a heterozygous missense mutation, p.Glu241Lys, in the COPA gene, private to the affected family members. The mutation occurred de novo in the paternal germline of the index case and was absent from 30,067 Icelandic genomes and 141,353 individuals from the genome Aggregation Database (gnomAD). The mutation occurs within the conserved and functionally important WD40 domain of the COPA protein. Conclusions: This is the second report of the p.Glu241Lys mutation in COPA, indicating the recurrent nature of the mutation. The mutation was reported to co-segregate with COPA syndrome in a large family from the USA with five affected members, and classified as pathogenic. The two separate occurrences of the p.Glu241Lys mutation in cases and its absence from a large number of sequenced genomes confirms its role in the pathogenesis of the COPA syndrome. Keywords: COPA syndrome, Lung disease, Arthritis, Immune dysregulation, Case report

Objectives The purpose of this trial was to evaluate the efficacy and safety of recently developed suppositories containing free fatty acids as a bowel-cleansing agent prior to flexible sigmoidoscopy and compare them with Klyx (docusate sodium/sorbitol). Design A controlled, non-inferiority, single-blind, randomised study on outpatients undergoing flexible sigmoidoscopy. Setting Department of Gastroenterology, Landspitali-University Hospital and endoscopic clinic. Patients 53 outpatients undergoing flexible sigmoidoscopy. Intervention Participants were randomised to receive either free fatty acid suppositories (28) or a standard bowel preparation with Klyx enema (25). In the study group, two suppositories were administered the evening before as well as 2 h prior to the sigmoidoscopy. In the control group, Klyx enema (120 mL) was administered the evening before and repeated 2 h prior to the procedure. Main outcome measurements Quality of the bowel cleansing, height of scope insertion and safety. Results The mean height of scope insertion and bowel cleansing was 43 cm (SD=13.4) in the study group and 48 cm (SD=10.4) in the control group (NS). The investigating physicians were less satisfied with the bowel preparation in the study group compared with the control group with a difference of 20% (p

Sexual violence against children is a hidden problem. Medical examination and evaluation is needed to search for possible injuries, exclude infections, procure legal evidence and ensure the child´s welfare. We assessed medical evaluations done at Landspitali University Hospital and in the Reykjavik Children's House, a specialized clinic for childhood abuse cases.Retrospective descriptive analysis was performed on the standardized medical examinations. Age, sex, waiting time from reported violence until examination and recorded aberrant external genitalia findings were noted, and classified by the medically--oriented Adams system. Offence severity stages were assigned.Medical examination cases numbered 224 for 220 girls aged 1-17 years. Records were available on 218 standarized examinations among girls; 201 were adequate (92%). Most were conducted within a month (medium waiting-time 28 days; range 1-166). Hymenal changes were in 24 cases possibly associated with sexual violence, including 21 in a girl not sexually active. Two girls had human papillomavirus warts (1%) and one chlamydial infection (0.5%). Medical examination was normal in 85% (165/193) of girls who were not sexually active; 24 had possibly experienced sexual violence and four results were uncertain/controversial. For 71 offence severity was serious.Most examinations were conducted on prepubertal girls, were not a matter of urgency and showed normal results. Possible relation to sexual violence was described for one in eight. Infections were rare. When child sexual abuse is suspected, care with methodology and procedures is needed, both for elective and acute medical examinations. Key words: Violence, child sexual abuse, children, external genitalia, injuries, severity grading. Correspondence: Ebba Margret Magnusdottir, ebbamag@landspitali.is.

Barrett's esophagus, with gastroesophageal reflux disease and obesity as risk factors, predisposes to esophageal adenocarcinoma (EAC). Recently a British genome wide association study identified two Barrett's esophagus susceptibility loci mapping within the major histocompatibility complex (MHC; rs9257809) and closely to the Forkhead-F1 (FOXF1; rs9936833) coding gene. An interesting issue is whether polymorphisms associated with Barrett's esophagus, are also implicated in esophageal carcinoma (EC), and more specifically EAC genesis. Assessing the individual genetic susceptibility can help identify high risk patients more prone to benefit from surveillance programs. Our hypothesis: Barrett associated MHC and FOXF1 variants modify EC risk in Caucasians. In a Dutch case-control study, 431 patients with EC and 605 healthy controls were included. Polymorphisms at chromosomes 6p21 (MHC) and 16q24 (FOXF1) were determined by means of real-time polymerase chain reaction (RT-PCR). Logistic regression analysis was used to calculate odds ratios with 95% confidence intervals. The FOXF1 rs9936833 variant C allele was associated with an increased EAC susceptibility; OR, [95% CI]; 1.21, [0.99-1.47]. A sex-stratified analysis revealed a similar association in males; 1.24 [1.00-1.55]. The variant MHC rs9257809 G allele as well as the MHC heterozygous AG genotype significantly increased ESCC risk; 1.76 [1.16-2.66] and 1.74 [1.08-2.80], respectively. Sex-stratification showed that the variant G allele was especially present in female patients; 2.32 [1.04-5.20]. In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians. FOX proteins are transcription factors involved in organogenesis of the GI tract, while MHC haplotypes are strongly associated with smoking behavior, a crucial risk factor for ESCC. Assessing the individual genetic susceptibility can help identify high risk patients more prone to benefit from (Barrett) surveillance programs.

Contains fulltext : 108111.pdf (Publisher’s version ) (Open Access) Esophageal cancer (EC) has a globally increasing incidence with poor curative treatment options and survival rates. Environmental and dietary factors have crucial roles in esophageal carcinogenesis. Polymorphisms in the UGT genes, a superfamily of enzymes essential for the detoxification of carcinogens, may alter enzyme activity and subsequently may play a role in EC etiology. Rather than solely establishing differences in genotype distribution, we investigated whether functional polymorphisms in UGT genes that can predict enzyme activity in vivo, may influence EC risk. A case-control study including 351 Caucasian EC patients and 592 Caucasian controls was conducted and polymorphisms in seven UGT genes were determined, using the polymerase chain reaction. On the basis of allelic in vitro enzyme activity measurements, genotypes were categorized according to their predicted in vivo enzyme activity into high, medium and low categories. Predicted enzyme activity groups were combined and compared between patients and controls. The UGT1A1 and UGT1A8 predicted high enzyme activity genotypes were significantly more (OR=1.62; 95% CI, 1.02-2.56) and less frequent (OR=0.36; 95% CI, 0.15-0.84) among patients with esophageal squamous cell carcinoma (ESCC), respectively. High (OR=0.42; 95% CI, 0.22-0.84) and medium (OR=0.25; 95% CI, 0.12-0.52) activity UGT2B4 genotypes were significantly less often present in ESCC patients. No association was detected between UGT genotypes and esophageal adenocarcinoma (EAC) risk. Polymorphisms in UGT genes, resulting in altered enzyme activity genotypes, do not seem modifiers of EAC risk. However, the predicted high activity UGT1A1 genotype, associated with low serum levels of the antioxidant bilirubin, was associated with an increased ESCC risk. The UGT1A8 and UGT2B4 genotypes associated with decreased predicted enzyme activities, were significantly associated with an increased risk of ESCC, probably by a decreased detoxification of carcinogens. 01 juni 2012

Dumping syndrome is the term used to describe a common set of symptoms following gastric surgery, and is characterised by postprandial discomfort which can entail nutritional problems. The condition was well known when surgery was the usual treatment for peptic ulcer disease. The increasing number of operations for morbid obesity means that the condition is once again of relevance, and health personnel will encounter these patients in different contexts. This article discusses the prevalence, symptomatology and treatment of dumping syndrome.This review article is based on a selection of articles identified in PubMed and assessed as having particular relevance for elucidating this issue, as well as on the authors' own clinical experience.Early dumping syndrome generally occurs within 15 minutes of ingesting a meal and is attributable to the rapid transit of food into the small intestine. Nausea, abdominal pain, diarrhoea, a sensation of heat, dizziness, reduced blood pressure and palpitations are typical symptoms. Lethargy and sleepiness after meals are common. Late dumping syndrome occurs later and may be attributed to hypoglycaemia with tremors, cold sweats, difficulty in concentrating, and loss of consciousness. Dumping-related symptoms occur in between 20 and 50% of patients following gastric surgery. Early dumping syndrome is more frequent than late dumping syndrome. It is estimated that 10-20% of patients have pronounced symptoms and 1-5% have severe symptoms. The diagnosis is usually made on the basis of typical symptoms. Most patients experience alleviation of the symptoms over time and with changes in diet and eating habits. Further patient evaluation and drug or surgical intervention may be relevant for some individuals.Dumping-related symptoms are common after gastric surgery. The extent of obesity surgery in particular means that health personnel should be familiar with this condition.

Contains fulltext : 125778.pdf (Publisher’s version ) (Closed access) Esophageal cancer (EC), mainly consisting of squamous cell carcinoma (ESCC) in the Eastern world and adenocarcinoma (EAC) in the Western world, is strongly associated with dietary factors such as alcohol use. We aimed to clarify the modifying role in EC etiology in Caucasians of functional genotypes in alcohol-metabolizing enzymes. In all, 351 Caucasian patients with EC and 430 matched controls were included and polymorphisms in CYP2E1, ADH and near ALDH2 genes were determined. In contrast to the results on ESCC in mainly Asian studies, we found that functional genotypes of alcohol-metabolizing enzymes were not significantly associated with EAC or ESCC in an European population.

Contains fulltext : 118871.pdf (Publisher’s version ) (Open Access) BACKGROUND: Identifying and monitoring high-risk patients can aid the prevention of esophageal cancer (EC). The interaction of environmental risk factor exposure and genetic susceptibility may contribute to the etiology of EC. Biotransformation enzymes such as Glutathione S-Transferases (GSTs ) detoxify mutagenic and genotoxic compounds and therefore control the rate of detoxification of carcinogens. Functional polymorphisms in the genes coding for GSTs alter their enzyme activity in vitro, and were reported to modify EC risk in Asians. We hypothesized that altered enzyme activity GST genotypes influence the susceptibility for esophageal adeno- (EAC) and squamous cell carcinoma (ESCC) in Caucasians. METHODS: We performed a case-control study including 440 Caucasian patients with EC and 592 healthy Caucasian controls matched for age and sex. Functional polymorphisms were selected and genotypes were determined in GST classes Alpha, Mu, Theta and Pi by means of polymerase chain reaction. Genotypes were classified into predicted high, intermediate and low enzyme activity categories based on in vitro activity data. The distribution of the activity genotypes were compared between patients with EAC or ESCC, and controls. Odds ratios (OR) with 95% confidence intervals (CI) were calculated by logistic regression analyses. Gene-gene interactions were tested and for comparison purposes, the predicted low and intermediate activity genotypes were combined. Genotypes with similar risks for EAC or ESCC were combined and analyzed for multiplicative effects. RESULTS: Our analyses includes 327 patients with EAC and 106 patients with ESCC. Low or intermediate activity enzyme genotypes for GSTM1, GSTA1, GSTP1 I105V and A114V as well as for GSTT1, did not significantly modify the risk for ESCC or EAC in our Dutch population. CONCLUSION: Functional genotypes in GST genes are not involved in EAC or ESCC susceptibility in Caucasians, in contrast to results on ESCC from Asia or Africa.

Barrett's esophagus, with gastroesophageal reflux disease and obesity as risk factors, predisposes to esophageal adenocarcinoma (EAC). Recently a British genome wide association study identified two Barrett's esophagus susceptibility loci mapping within the major histocompatibility complex (MHC; rs9257809) and closely to the Forkhead-F1 (FOXF1; rs9936833) coding gene. An interesting issue is whether polymorphisms associated with Barrett's esophagus, are also implicated in esophageal carcinoma (EC), and more specifically EAC genesis. Assessing the individual genetic susceptibility can help identify high risk patients more prone to benefit from surveillance programs. Our hypothesis: Barrett associated MHC and FOXF1 variants modify EC risk in Caucasians. In a Dutch case-control study, 431 patients with EC and 605 healthy controls were included. Polymorphisms at chromosomes 6p21 (MHC) and 16q24 (FOXF1) were determined by means of real-time polymerase chain reaction (RT-PCR). Logistic regression analysis was used to calculate odds ratios with 95% confidence intervals. The FOXF1 rs9936833 variant C allele was associated with an increased EAC susceptibility; OR, [95% CI]; 1.21, [0.99-1.47]. A sex-stratified analysis revealed a similar association in males; 1.24 [1.00-1.55]. The variant MHC rs9257809 G allele as well as the MHC heterozygous AG genotype significantly increased ESCC risk; 1.76 [1.16-2.66] and 1.74 [1.08-2.80], respectively. Sex-stratification showed that the variant G allele was especially present in female patients; 2.32 [1.04-5.20]. In conclusion, this study provides evidence that MHC rs9257809 and FOXF1 rs9936833 variants, associated with Barrett's esophagus, also increase ESCC and EAC susceptibility in Caucasians. FOX proteins are transcription factors involved in organogenesis of the GI tract, while MHC haplotypes are strongly associated with smoking behavior, a crucial risk factor for ESCC. Assessing the individual genetic susceptibility can help identify high risk patients more prone to benefit from (Barrett) surveillance programs.

Contains fulltext : 111001.pdf (Publisher’s version ) (Closed access) Esophageal cancer (EC) has a globally increasing incidence with poor curative treatment options and survival rates. Crucial risk factors are exposure to toxins or carcinogens. Microsomal epoxide hydrolase (mEH) is a biotransformation enzyme essential for the detoxification of xenobiotics. Polymorphisms in exon 3 and exon 4 of the microsomal epoxide hydrolase gene (EPHX1) modify catalytic activity of this enzyme and subsequently may play a role in EC etiology. This case-control study investigated whether these polymorphisms in the EPHX1 gene influence esophageal cancer susceptibility in a Dutch Caucasian population. A case-control study including 349 Caucasian EC patients and 581 Caucasian healthy controls was conducted and the polymorphisms Tyr113His (exon 3) and His139Arg (exon 4) in the EPHX1 gene were determined, using polymerase chain reaction. The distribution of exon 3 and exon 4 genotypes were compared between cases and controls. Analyses included a stratification according to tumor histology; esophageal adenocarcinoma (EAC) or squamous cell carcinoma (ESCC). Furthermore, on the basis of allelic in vitro enzyme activity assays, exon 3 and 4 genotypes were combined and categorized according to their predicted high, medium or low enzyme activity. Homozygosity and heterozygosity for both exon 3 and 4 polymorphisms were correlated with a decreased esophageal squamous cell carcinoma risk. Heterozygosity and homozygosity for both polymorphisms correlated with an increased and a decreased esophageal adenocarcinoma risk, respectively. Predicted intermediate and high activity genotypes were risk and protective factors for esophageal squamous cell carcinoma and esophageal adenocarcinoma, respectively. However, none of these associations were statistically significant. In conclusion, the polymorphisms in exon 3 and exon 4 of the EPHX1 gene do not seem to be modifiers of esophageal squamous cell carcinoma or esophageal adenocarcinoma risk in Dutch Caucasians. 01 juni 2012

Systemic lupus erythematosus (SLE) is an uncommon disease in children and adolescents but far from being unknown. The disease's symptoms are often non-specific and vague at first and clinicians must suspect SLE without the more specific symptoms. Treatment should be initiated as soon as possible to delay or prevent serious complications. This case demonstrates the history of a young boy who needed medical attention at the Children's Hospital of Iceland because of joint pain, swollen lymph nodes and fatigue. The epidemiology, diagnostic criteria, treatment and prognosis of children diagnosed with SLE are reviewed.

Childhood cancer is the second most common cause of death in children. The aim of this study was to gather epidemiological information on childhood cancer in Iceland.The study was population based and included all children younger than 18 years of age, diagnosed with cancer in Iceland from 1981 to 2006. Information was extracted from the Icelandic Cancer Registry and patient hospital records.During the study period 288 cancer cases were diagnosed in 279 children, 10 cases were secondary neoplasms. Age standardized incidence was 16.1 per 100.000 (95% CI 13,6-18,6) for boys and 12.8 per 100.000 (95% CI 10,5-15,0) for girls. There was no significant difference in the incidence rate between the first and second half of the study period. For children aged 0-14 years, the age standardized incidence was 13.6 per 100.000. The incidence was highest in the 0-4 year age group (17.3 per 100.000) and in the 15-17 year age group (19.6 per 100.000). Brain tumors (27.1%) and leukemia (25.0%) were the most common cancer groups diagnosed. Lymphoid leukemia was the most common cancer type (17.9%) and astrocytoma (13.1%) came second.The incidence of childhood cancer in Iceland is similar to other Western countries. Long-term follow-up is very important in childhood cancer survivors.

Contains fulltext : 79521.pdf (Publisher’s version ) (Open Access) AIM: To determine whether -1195 A-->G and/or -765 G-->C polymorphisms in Cyclooxygenase-2 (COX-2) may have a risk modifying effect on the development of esophageal carcinoma in a Dutch Caucasian population. METHODS: Two study groups were recruited, 252 patients with esophageal carcinoma and 240 healthy controls, matched for race, age, gender and recruiting area. DNA was isolated from whole blood and used for genotyping. PCR products were digested with restriction enzymes and products were analyzed by agarose gel electrophoresis. Odds ratios (OR) and 95% confidence intervals (CI) were estimated. RESULTS: The distribution of the -1195 A-->G polymorphism was significantly different in esophageal cancer patients compared to controls. The -1195 GG genotype resulted in a higher risk of developing esophageal adenocarcinoma (OR = 3.85, 95% CI: 1.45-10.3) compared with the -1195 AA genotype as a reference. The -765 G-->C genotype distribution was not different between the two groups. The GG/GG haplotype was present more often in esophageal adenocarcinoma patients than in controls (OR = 3.45, 95% CI: 1.24-9.58; with AG/AG as a reference). The same trends were observed in patients with squamous cell carcinomas, however, the results did not reach statistical significance. CONCLUSION: Presence of the COX-2 -1195 GG genotype and of the GG/GG haplotype may result in a higher risk of developing esophageal carcinoma.

Item does not contain fulltext This case report describes concurrent splenic peliosis and vascular Ehlers-Danlos syndrome (EDS) in a 59-year-old male patient. After splenic rupture due to peliosis, the complicated postoperative period hinted at the possibility of vascular EDS. This diagnosis was confirmed by genetic testing, which revealed a novel point mutation in the COL3A1 gene, c.2545G-->C, leading to a codon encoding for arginine instead of glycine (p.Gly849Arg). In addition, a histological diagnosis of splenic peliosis could be established.

Esophageal cancer (EC) has a globally increasing incidence with poor curative treatment options and survival rates. Environmental and dietary factors have crucial roles in esophageal carcinogenesis. Polymorphisms in the UGT genes, a superfamily of enzymes essential for the detoxification of carcinogens, may alter enzyme activity and subsequently may play a role in EC etiology. Rather than solely estab- lishing differences in genotype distribution, we investigated whether functional polymorphisms in UGT genes that can predict enzyme activity in vivo, may influence EC risk. A case-control study including 351 Caucasian EC patients and 592 Caucasian controls was conducted and polymorphisms in seven UGT genes were determined, using the polymerase chain reaction. On the basis of allelic in vitro enzyme activity measurements, genotypes were categorized according to their predicted in vivo enzyme activity into high, medium and low categories. Predicted enzyme activity groups were combined and compared between patients and controls. The UGT1A1 and UGT1A8 predicted high enzyme activity genotypes were significantly more (OR=1.62; 95% CI, 1.02-2.56) and less frequent (OR=0.36; 95% CI, 0.15-0.84) among patients with esophageal squamous cell carcinoma (ESCC), respectively. High (OR=0.42; 95% CI, 0.22-0.84) and medium (OR=0.25; 95% CI, 0.12-0.52) activity UGT2B4 genotypes were signifi - cantly less often present in ESCC patients. No association was detected between UGT genotypes and esophageal adenocar- cinoma (EAC) risk. Polymorphisms in UGT genes, resulting in altered enzyme activity genotypes, do not seem modifiers of EAC risk. However, the predicted high activity UGT1A1 genotype, associated with low serum levels of the antioxidant bilirubin, was associated with an increased ESCC risk. The UGT1A8 and UGT2B4 genotypes associated with decreased predicted enzyme activities, were significantly associated with an increased risk of ESCC, probably by a decreased detoxifi - cation of carcinogens.

En el presente caso clinico se describe una peliosis esplenica y un sindrome vascular de Ehlers-Danlos (SED) concurrentes en un paciente de 59 anos de edad. Tras la rotura esplenica debida a la peliosis, el periodo postoperatorio complicado sugirio la posibilidad de un SED vascular. Este diagnostico se confirmo con los examenes geneticos, que revelaron una nueva mutacion puntual en el gen COL3A1 , c.2545G → C, que daba lugar a un codon que codificaba para la arginina en lugar de glicina (p.Gly849Arg). Ademas, pudo establecerse un diagnostico histologico de peliosis esplenica.

Nous rapportons un cas de peliose splenique associee a un syndrome vasculaire d'Ehlers-Danlos (SED) chez un homme de 59 ans. Apres une rupture splenique liee a la peliose, des suites operatoires compliquees ont suggere la possibilite d'un SED vasculaire. Ce diagnostic a ete confirme par le depistage genetique, qui a montre l'existence d'une mutation ponctuelle originale du gene COL3A1, c.2545G→ C, menant a la formation d'un codon codant pour l'arginine plutot que pour la glycine (p.Gly849Arg). En outre, le diagnostic histologique de peliose splenique a ete confirme.