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We present a long-term follow-up in a 17-year-old girl with DGAT1-related diarrhea, an autosomal recessive disorder characterized by impaired triglyceride absorption. Neonatal presentation included severe congenital diarrhea, protein-losing enteropathy, and failure to thrive requiring total parenteral nutrition. Duodenal biopsies revealed apoptotic enteropathy and acute inflammation with the presence of macrophages and Touton giant cells, related to the intake of fat. She was able to switch to enteral nutrition on a fat-free diet. However, at age 10, she developed gluten-induced enteropathy and then IBD-like inflammation 5 years later. Immunohistochemistry was able to confirm the diagnosis, while DGAT1 sequencing remained inconclusive. This highlights the role of histopathology and immunohistochemistry, despite the increasing importance of genetic analysis in the diagnostic work-up. This report also illustrates that parenteral nutrition weaning is possible in DGAT1-related diarrhea, but gut barrier dysfunction might increase the risk of autoimmune intestinal disease.

Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease worldwide and is strongly associated with obesity, dyslipidemia and insulin resistance. NAFLD often presents as simple steatosis (NAFL) but can progress to non-alcoholic steatohepatitis (NASH) and fibrosis. Current non-invasive biomarkers are not tailored to identify significant (⩾F2) fibrosis, although recent guidelines recommend a stringent follow-up of this patient population. We and others have reported on the role of pathological angiogenesis in the pathogenesis of NAFLD, highlighting pro-angiogenic factors as potential diagnostic markers.To investigate the applicability of angiogenic and endothelial dysfunction markers as non-invasive diagnostic tools for NASH or NASH-associated fibrosis in obese patients.In a prospective cross-sectional study, male patients undergoing bariatric surgery (n=61) and control patients (n=35) were recruited. Serum protein levels and visceral adipose tissue gene expression of endothelial dysfunction and angiogenic markers were analyzed by multiplex bead-based assay and quantitative RT-PCR, respectively. For validation, we recruited a second cohort of patients undergoing bariatric surgery (n=40) and a cohort of NAFLD patients from our outpatient clinic (n=30).We identified serum vascular cell adhesion molecule-1 (VCAM-1) as an independent predictor for ⩾F2 fibrosis (median 14.0 vs 8.7 ng mlVCAM-1 levels are able to accurately predict significant (⩾F2) fibrosis in NAFLD patients.

BACKGROUND: Feasibility and long-term safety of laparoscopic removal of gastric gastrointestinal stromal tumors (GISTs) of the stomach is well established for lesions smaller than 2 cm. Our specific aim was to explore whether laparoscopic treatment is equally applicable for gastric GISTs larger than 2 cm. METHODS: Between 1997 and 2010, 31 consecutive patients presenting with a primary gastric GIST were scheduled for laparoscopic resection, irrespective of tumor size. Prerequisites for laparoscopic approach were the absence of metastases and the presence of a well-defined tumor on CT scanning without involvement of adjacent organs, the esophagogastric junction, or the pylorus of the stomach. Data were retrieved retrospectively from a prospectively collected database, including information on patient demographics, surgical procedure, complications, hospital stay, and recurrence. Diagnosis of GIST was based on microscopic analysis, including immunohistochemistry with a panel of antibodies: CD117, CD34, DOG1, S100, desmin, and smooth muscle actin. RESULTS: All 31 laparoscopic resections were carried out successfully. The most common symptoms were melena, anemia, and abdominal pain. In one case we performed a laparoscopic approach for a GIST with acute bleeding. Tumor size was smaller than 2 cm in 5 patients and larger than 2 cm in 26 patients. The median tumor size was 4.4 cm (range = 0.4-11.0 cm). Median blood loss was identical in both groups (20 ml), but duration of operation (60 vs. 103 min) and duration of hospital stay (6 vs. 8 days) were lower when tumor size was less than 2 cm. Only one patient (with tumor size CONCLUSION: The low morbidity rates and the long-term disease-free interval of 100% observed in our cohort indicate that laparoscopic resection is safe and effective in treating gastric GISTs, even for tumors larger than 2 cm. Comment in Combined laparoscopic and endoscopic excision of a gastric gist. [Surg Endosc. 2013]

Water policymaking strongly depends on expert knowledge, and yet there is a gap between policy makers and research professionals. This article addresses this issue by presenting a conceptual framework and method for identification of information needs in a particular policymaking context. The framework deduces information needs not only from pertaining laws and regulations, but also from strategic stakeholder behavior that can be anticipated in this context. The outcome is then matched with empirically observed information needs and available knowledge. Framework and method have been applied to the Dutch groundwater protection policy situation, establishing their effectiveness in exploring strategies to stimulate knowledge development to match stakeholder information needs.

We studied the degree and scale of patchiness of vegetation and selected soil variables along a gradient of herbivore impact. The gradient consisted of a radial pattern of ‘high’, ‘intermediate’ and ‘low’ herbivore impact around a watering point in a semi-arid environment in Burkina Faso (West Africa). We hypothesised that, at a certain range of herbivore impact, vegetated patches alternating with patches of bare soil would occur as a consequence of plant-soil feedbacks and run-off-run-on patterns. Indeed, our transect data collected along the gradient showed that vegetated patches with a scale of about 5‐10 m, alternating with bare soil, occurred at intermediate herbivore impact. When analysing the data from the experimental sites along the gradient, however, we also found a high degree of patchiness of vegetation and soil variables in case of low and high herbivore impact. For low herbivore impact, most variation was spatially explained, up to 100% for vegetation biomass and soil temperature, with a patch scale of about 0.50 m. This was due to the presence of perennial grass tufts of Cymbopogon schoenanthus . Patterns of soil organic matter and NH4-N were highly correlated with these patterns of biomass and soil temperature, up to r D 0: 7( P< 0:05) for the in situ correlation between biomass and NH4-N. For high herbivore impact, we also found that most variation was spatially explained, up to 100% for biomass and soil temperature, and 84% for soil moisture, with three distinct scales of patchiness (about 0.50 m, 1.80 m and 2.80 m). Here, microrelief had a corresponding patchy structure. For intermediate herbivore impact, again most variation was spatially explained, up to 100% for biomass and soil temperature, and 84% for soil moisture, with a patch scale of about 0.95 m. Here, we found evidence that vegetated patches positively affected soil moisture through less run-off and higher infiltration of rainwater that could not infiltrate into the bare soil elsewhere, which was not due to microrelief. Thus, we conclude that our findings are in line with our initial hypothesis that, at intermediate herbivore impact, vegetated patches alternating with patches of bare soil persist in time due to positive plant-soil feedbacks.

The pathological findings are described of a female patient with persistent Cushing's disease after two unsuccessful transsphenoidal operations: a left transsphenoidal hemihypophysectomy followed by a total hypophysectomy 1 month later. The patient was finally cured by bilateral adrenalectomy but suddenly died of heart failure 4 months later. Postmortem examination did not show invasive ACTH-secreting tissue in the pituitary region or an ectopic ACTH-secreting tumor, as initially presumed. Instead, a very small corticotroph adenoma was located immediately under the diaphragm sellae at the left side. The reasons for surgical failure in Cushing's disease are discussed. As in our patient, a missed small intrasellar adenoma must not be excluded when "total" hypophysectomy fails to cure Cushing's disease.

beta-Adrenoceptors were identified and characterized by [3H]dihydroalprenolol ([ 3H]DHA) binding experiments in muscle membrane preparations from piglets. The [3H]DHA binding was rapid, reversible and stereoselective. Catecholamines competed for specific binding with a rank order of potency (-)-isopropylnoradrenaline greater than (-)-epinephrine much greater than (-)-norepinephrine, indicating a beta 2-subtype of adrenoceptor. Saturation binding experiments with [3H]DHA showed no significant difference for either the number of binding sites or the equilibrium dissociation constants in normal and splayleg pigs. Adenylate cyclase assays indicated that the basal adenylate cyclase activity and the prostaglandin E1 (PGE1)-, (-)-isopropylnoradrenaline (ISO)-, 5'-guanylyl-imidodiphosphate (GppNHp)- and sodium fluoride (NaF)-stimulated values were not significantly different in normal and splayleg pigs. In both groups, PGE1 did not affect basal activity, whereas ISO and GppNHp stimulated adenylate cyclase activity significantly (p less than 0.001) to about 40% above basal level. NaF induced a significant (p less than 0.001) increase of cAMP in normal and splayleg pigs amounting to 48% and 61% respectively. Significant correlations between absolute adenylate cyclase responses to ISO (r = 0.83***), NaF (r = 0.72**) and GppNHp (r = 0.61*) and basal activity in the splayleg pigs were the most striking findings. In contrast, these correlations could not be detected in the normal pigs. Whether or not this observation reflects an alteration in the signal transduction system needs to be further investigated. To the best of our knowledge this is the first biochemical study which relates an altered beta-adrenoceptor function and porcine splayleg.