Untreated Celiac Disease in a Patient with Dermatitis Herpetiformis Leading to a Small Bowel Carcinoma

Usually, celiac disease has a benign course, though the overall morbidity and mortality have increased. Treatment with a gluten-free diet restores the damaged intestinal mucosa. In rare cases a small bowel adenocarcinoma develops. Unfortunately, the clinical presentation is not always recognized and prognosis is bad. We present a 69-year-old man with a history of dermatitis herpetiformis who presented to our tertiary center for a second opinion for a suspected gastric motility disorder. This diagnosis was based on the combination of upper abdominal pain for over 2 years and repetitive episodes of vomiting. Immediately after referral, celiac disease was diagnosed and a gluten-free diet was started. In the next half year of follow-up, additional anemia and weight loss developed and eventually a small bowel adenocarcinoma was diagnosed. Revision of a small bowel follow-through, which had been performed 2 years earlier, showed that the tube had been positioned just distal from the process. Therefore, this diagnosis had not been made at that time. Unfortunately, curative therapy was not possible and the patient died a few months later. In conclusion, all patients with dermatitis herpetiformis have a gluten-sensitive enteropathy and should be treated with a gluten-free diet. Next to this it is important to notice that patients with celiac disease have an increased risk of developing a small bowel malignancy. Unexplained upper abdominal pain, weight loss and anemia should lead to additional investigations to exclude a small bowel malignancy in these patients. At last, the diagnosis of a small bowel carcinoma is difficult. Together with the radiologist, the optimal techniques for visualization of this malignancy should be considered

A Common Variant of PNPLA3 (p.I148M) Is Not Associated with Alcoholic Chronic Pancreatitis

Contains fulltext : 110441.pdf (publisher's version ) (Open Access)BACKGROUND: Chronic pancreatitis (CP) is an inflammatory disease that in some patients leads to exocrine and endocrine dysfunction. In industrialized countries the most common aetiology is chronic alcohol abuse. Descriptions of associated genetic alterations in alcoholic CP are rare. However, a common PNPLA3 variant (p.I148M) is associated with the development of alcoholic liver cirrhosis (ALC). Since, alcoholic CP and ALC share the same aetiology PNPLA3 variant (p.I148M) possibly influences the development of alcoholic CP. METHODS: Using melting curve analysis we genotyped the variant in 1510 patients with pancreatitis or liver disease (961 German and Dutch alcoholic CP patients, 414 German patients with idiopathic or hereditary CP, and 135 patients with ALC). In addition, we included in total 2781 healthy controls in the study. RESULTS: The previously published overrepresentation of GG-genotype was replicated in our cohort of ALC (p-value <0.0001, OR 2.3, 95% CI 1.6-3.3). Distributions of genotype and allele frequencies of the p.I148M variant were comparable in patients with alcoholic CP, idiopathic and hereditary CP and in healthy controls. CONCLUSIONS: The absence of an association of PNPLA3 p.I148M with alcoholic CP seems not to point to a common pathway in the development of alcoholic CP and alcoholic liver cirrhosis

Prognostic accuracy of factors associated with poor outcome in prenatally diagnosed sacrococcygeal teratoma:A systematic review and meta-analysis

Several factors associated with poor outcome in patients with prenatally diagnosed sacrococcygeal teratoma (SCT) have been found. However, the prognostic accuracy of these factors has not been well established. Therefore, we aimed to systematically review the prognostic accuracy of factors associated with poor outcome in these patients. We queried Search Premier, COCHRANE Library, EMCARE, EMBASE, PubMed, ScienceDirect, and Web of Science databases to identify studies regarding patients with prenatally diagnosed SCT. Poor outcome was defined as termination of pregnancy (TOP), intrauterine fetal death (IUFD), or perinatal death. We estimated the odds ratio of factors associated with poor outcome. Eleven studies (447 patients) were included. Overall mortality, including TOP, was 34.9%. Factors associated with poor outcome in fetuses with prenatally diagnosed SCT were cardiomegaly, hypervascular tumor, solid tumor morphology, fetal hydrops, and placentomegaly. A tumor volume to fetal weight ratio (TFR) of &gt;0.12 before a gestational age of 24 weeks is predictive of poor outcome. The prognostic accuracy of factors associated with poor outcome in fetuses prenatally diagnosed with SCT seems promising. Factors associated with cardiac failure such as cardiomegaly, hypervascular tumor, solid tumor morphology, fetal hydrops, placentomegaly, and TFR &gt;0.12 were found to be predictive of poor outcome

Genotype data of <i>PNPLA3</i> variant rs738409 in German and Dutch patients with alcoholic CP and in German and Dutch controls.

<p>Percentages are given in brackets. <i>P</i>-values were calculated for these groups in a dominant (CC vs. GC+GG) and recessive model (CC+GC vs. GG). Abbreviations: ACP = alcoholic CP, n.s. = not significant.</p