Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y.

Testosterone changes in patients with liver cirrhosis before and after orthotopic liver transplantation and its correlation with MELD.

Context: Hypogonadism is a common clinical situation in male patients with liver cirrhosis.

Objectives: The aim of the present study was to evaluate the effects of orthotopic liver transplantation on testosterone, free testosterone and sex hormone-binding globulin in male with advanced liver disease and also to determine the relationship of these changes with Model for End-stage Liver Disease (MELD) score.

Methods: In a prospective study, serum levels of testosterone, free testosterone and sex hormone-binding globulin of 30 male adult patients with end-stage liver disease were measured 2 to 4 hours before and 6 months after orthotopic liver transplantation.

Change in platelet count in patients with hypersplenism subjected to liver transplantation.

Context: Most patients subjected to liver transplantation presents hypersplenism, which is reversed after the operation. However, some patients remain with moderate to intense hypersplenism.

Objectives: To study the effect of liver transplantation on platelet count in patients with hypersplenism.

[Optimizing systems of care for patients with acute myocardial infarction. STEMI networks, telemetry ECG, and standardized quality improvement with systematic data feedback].

Rapid revascularization of the infarct-related artery importantly affects prognosis in the treatment of acute ST elevation myocardial infarction (STEMI). Treatment results can be improved significantly when a STEMI-specific structure of care is created and when systematic quality improvement measures are implemented. The necessary structural measures include establishing or participating in myocardial infarction networks.

Contact-to-balloon time and door-to-balloon time after initiation of a formalized data feedback in patients with acute ST-elevation myocardial infarction.

For many patients with ST-segment elevation myocardial infarctions (STEMIs), the time from presentation to percutaneous coronary intervention exceeds established goals. This study was conducted to examine the effects of formalized data assessment and systematic feedback on treatment times. All patients with STEMIs treated with percutaneous coronary intervention in a semi-rural 3-hospital network from January 1, 2006, to December 31, 2006, were prospectively analyzed (n = 114).

Formation of solid-state excitons in ultrathin crystalline films of PTCDA: from single molecules to molecular stacks.

We directly follow the evolution of the absorption spectrum from a single molecule to a dimer and further to a one-dimensional molecular stack: We determine the optical absorption properties of ordered monolayer to multilayer films of PTCDA (3,4,9,10-perylenetetracarboxylic dianhydride) on muscovite mica(0001) surfaces by in situ differential reflectance spectroscopy. The data clearly show the transition from the single molecule to a dimer spectrum, followed by the exciton delocalization to a molecular crystal exciton. The accompanying spectral shifts compare favorably with recent model concepts.

Precise determination of the complex optical constant of mica.

We present a general method for extracting optical constants n and k plus film thickness t of weakly absorbing materials that exhibit film thicknesses in the micrometer range. This method utilizes the simultaneous fit of multiple transmission measurements of different film thicknesses and employs the constraint that the frequencies of the corresponding measured interference patterns in the nonabsorbing wavelength region have to be matched by means of n, its derivative n' at a certain value E0, and t. Applying this method in practice, we calculate, in two different, independent ways, the optical constants of muscovite mica at 330-800 nm for thicknesses that range from approximately 5 to approximately 160 microns.

Correct interpretation of spectral interference measurements of weakly absorbing films of micrometer thickness.

We present analytical equations based on thin-film optics with which to extract the thickness of weakly absorbing films from spectral interference measurements, using only the observed constant interference frequency. It is shown that the assumption of a constant index of refraction n for the analysis of interference frequency omega 0 introduces significant errors into the thickness calculation. Instead, the first derivative of n with respect to the energy, n', has to be included as well to yield the correct film thickness, even for small values of n'.

On the pathogenesis and clinical course of mesenteric lymph node cavitation and hyposplenism in coeliac disease.

Background: Coeliac disease is a disorder characterised by malabsorption related to abnormal small bowel structure and intolerance to gluten. There are several reports of an increased risk for malignancy in coeliac disease and its relation to gluten-free, reduced gluten, or normal diet. While a normal diet is associated with an excess of cancer of the mouth, pharynx, oesophagus, and also of lymphoma, treatment with a gluten-free diet restores the cancer risk back to normal.

Yersinia enterocolitica infection with multiple liver abscesses uncovering a primary hemochromatosis.

A 60-year-old man, although treated with antibiotics, suffered from a severe pyrexial illness of unknown origin, weight loss and intermittent abdominal pain. There was no history of diarrhea or common infections. Computed tomography and ultrasound imaging showed uncharacteristic multiple small lesions of the entire liver parenchyma.

Role of ERCP and endoscopic sphincterotomy in acute pancreatitis.

When assessing the indications for interventional endoscopy, obstructive and non-obstructive causes of acute pancreatitis should be distinguished. In non-obstructive (e.g.

High complication rate of bile duct stents in patients with chronic alcoholic pancreatitis due to noncompliance.

Background And Study Aims: Biliary obstruction in chronic pancreatitis is frequently treated by endoscopic insertion of a plastic stent into the common bile duct, a therapy regarded as having a low complication rate. The aim of this study is to analyze the frequency and severity of complications caused by biliary stents in patients with chronic alcoholic pancreatitis.

Patients And Methods: We retrospectively analyzed all our patients with chronic pancreatitis (n = 14) who were provided with a plastic stent for biliary stenosis between June 1993 and December 1997.

[Primary osteosarcoma of the liver. Case report and literature review].

Primary sarcomas of the liver are rare. Most of them are angiosarcomas often related to exposure to thorotrast or polyvinyl chloride. We report a case of primary osteosarcoma of the liver in a 72-year-old man and compare it with the seven cases from the literature

Crohn's disease mimicking sarcoidosis in bronchoalveolar lavage.

Granulomatous disorders like sarcoidosis or Crohn's disease are commonly associated with extrapulmonary or extraintestinal manifestations which occasionally may represent the only symptoms. We describe a 28-year-old female patient suffering from atypical erythema nodosum and arthritis. Although the chest x-ray was unremarkable bronchoalveolar lavage revealed lymphocytic alveolitis with an elevated CD4/CD8 ratio of 8 and 11.

Ethanolamine ammonia-lyase has a "base-on" binding mode for coenzyme B(12).

Ethanolamine ammonia-lyase (EAL, EC 4.3.1.

Association of lymphocytic colitis with linear IgA dermatosis.

The case of a 66-year-old female patient is presented, who suffered from chronic watery diarrhea. In addition, she developed linear IgA dermatosis after oral treatment of a presumed yeast infection with nystatin. To evaluate the reason for her diarrhea, colonoscopy was performed.

Linear IgA disease associated with lymphocytic colitis.

A 66-year-old woman presented with a bullous skin eruption and chronic diarrhoea. Lesional skin showed subepidermal blistering, and direct immunofluorescence of perilesional skin revealed linear deposits of IgA at the dermoepidermal junction, establishing a diagnosis of linear IgA disease (LAD). Chronic watery diarrhoea complicated by substantial loss of body weight preceded the skin eruption for several months.

Evidence for an anion exchange mechanism for uptake of conjugated bile acid from the rat jejunum.

Absorption of conjugated bile acids from the small intestine is very efficient. The mechanisms of jejunal absorption are not very well understood. The aim of this study was to clarify the mechanism of absorption of conjugated bile acid at the apical membrane of jejunal epithelial cells.

Binding of Cob(II)alamin to the adenosylcobalamin-dependent ribonucleotide reductase from Lactobacillus leichmannii. Identification of dimethylbenzimidazole as the axial ligand.

The ribonucleoside triphosphate reductase (RTPR) from Lactobacillus leichmannii catalyzes the reduction of nucleoside 5'-triphosphates to 2'-deoxynucleoside 5'-triphosphates and uses coenzyme B12, adenosylcobalamin (AdoCbl), as a cofactor. Use of a mechanism-based inhibitor, 2'-deoxy-2'-methylenecytidine 5'-triphosphate, and isotopically labeled RTPR and AdoCbl in conjunction with EPR spectroscopy has allowed identification of the lower axial ligand of cob(II)alamin when bound to RTPR. In common with the AdoCbl-dependent enzymes catalyzing irreversible heteroatom migrations and in contrast to the enzymes catalyzing reversible carbon skeleton rearrangements, the dimethylbenzimidazole moiety of the cofactor is not displaced by a protein histidine upon binding to RTPR.

Endoscopic sphincterotomy for acute pancreatitis: arguments against.

ERCP and sphincterotomy (EPT) are well accepted as the procedure of choice for diagnostic and therapeutic purposes of extrahepatic biliary obstructions. In case of obstructive jaundice and biliary sepsis urgent sphincterotomy is the method of choice, also during acute pancreatitis. The question has been debated whether endoscopic sphincterotomy improves the prognosis of acute (e.

Evaluation of a cacao drink as a simple oral stimulus to assess gallbladder contraction.

Unlabelled: Gallbladder contractility plays an important role in the pathogenesis of gallstones and in the course of cholelithiasis. Furthermore, a functioning gallbladder is an important condition for performing a successful disolution of gallstones by bile acids. Therefore, a reliable simple physiological test is desired to assess gallbladder contractility.

Dioldehydratase Binds Coenzyme B in the "Base-On" Mode: ESR Investigations on Cob(II)alamin.

Even in the enzyme-bound state the dimethylbenzimidazole ligand in the dioldehydratase from Salmonella typhimurium remains bound to the cobalt ion in contrast to some coenzyme B -dependent enzymes. Direct, ESR spectroscopic proof for this "base-on" binding mode was obtained by using a coenzyme in which one of the nitrogen atoms of the dimethylbenzimidazole ligand was N labeled (see schematic representation on the right).

Early ERCP and papillotomy compared with conservative treatment for acute biliary pancreatitis. The German Study Group on Acute Biliary Pancreatitis.

Background: The role of early endoscopic retrograde cholangiopancreatography (ERCP) and papillotomy in the treatment of patients who have acute biliary pancreatitis without obstructive jaundice is uncertain.

Methods: We conducted a prospective, multicenter study in which 126 patients were randomly assigned to early ERCP (within 72 hours after the onset of symptoms) and endoscopic papillotomy for the removal of stones in the common bile duct, when appropriate, and 112 patients were assigned to conservative treatment. In the conservative-treatment group, ERCP was performed within three weeks if signs of biliary obstruction or sepsis developed.