Wheat consumption is increasing worldwide and also increasing is the frequency of celiac disease (CeD), a pathological response to wheat protein (gluten) in genetically susceptible individuals. Non-celiac gluten sensitivity (NCGS) is another, less studied wheat-induced pathology. The treatment for both is a gluten-free diet (GFD). More individuals choose the diet than predicted by the epidemiological 1-2% prevalence. A preliminary survey by questionnaire asked members and attendees of the local gluten information group (GIG) meetings and functions about their diagnostic experiences and symptom levels in order understand the increased demand for gluten-free foods. Same-aged and -sex friends participated as a comparative “control”. Mixed methods were used including content analyses of prose narratives and independent and paired t tests of symptom levels measured with Likert scales. This convenience sample, surveyed in 2011-2012, is mostly female (54 F, 5 M) with an average age of 54.6 ± 2.0 years. Most participants consulted medical professionals with mean time to diagnosis of 7 years determined mostly from “classic” presenting symptoms. Negative biopsies or blood tests and atypical symptoms that overlap other conditions delayed diagnosis. There were 43 and 16 participants with CeD and NCGS, respectively differing little in symptom levels. Self-diagnosis and use of naturopaths account for some of the “excess” individuals. General practitioners should be encouraged to get additional nutrition training and to discuss with patients dietary choices that support wellness and minimize the risk for pathological immune responses. Patients with CeD particularly need support and follow-up in the transition to a GFD.

• Keywords
• neceliakální glutenová senzitivita, atypické symptomy,
• MeSH
• Wheat Hypersensitivity MeSH
• Thyroiditis, Autoimmune MeSH
• Diet, Gluten-Free MeSH
• Celiac Disease diagnosis   diet therapy   prevention & control   MeSH
• Chronic Disease MeSH
• Diagnosis, Differential MeSH
• Adult MeSH
• Immune System physiopathology   MeSH
• Menu Planning methods   standards   MeSH
• Middle Aged MeSH
• Humans MeSH
• Delayed Diagnosis MeSH
• Pilot Projects MeSH
• Signs and Symptoms MeSH
• Surveys and Questionnaires classification   utilization   MeSH
• Fatigue MeSH
• Treatment Outcome MeSH
• Patient Education as Topic MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH

The glycosylation of cell surface proteins plays a crucial role in a multitude of biological processes, such as cell adhesion and recognition. To understand the process of protein glycosylation, the reaction mechanisms of the participating enzymes need to be known. However, the reaction mechanism of retaining glycosyltransferases has not yet been sufficiently explained. Here we investigated the catalytic mechanism of human isoform 2 of the retaining glycosyltransferase polypeptide UDP-GalNAc transferase by coupling two different QM/MM-based approaches, namely a potential energy surface scan in two distance difference dimensions and a minimum energy reaction path optimisation using the Nudged Elastic Band method. Potential energy scan studies often suffer from inadequate sampling of reactive processes due to a predefined scan coordinate system. At the same time, path optimisation methods enable the sampling of a virtually unlimited number of dimensions, but their results cannot be unambiguously interpreted without knowledge of the potential energy surface. By combining these methods, we have been able to eliminate the most significant sources of potential errors inherent to each of these approaches. The structural model is based on the crystal structure of human isoform 2. In the QM/MM method, the QM region consists of 275 atoms, the remaining 5776 atoms were in the MM region. We found that ppGalNAcT2 catalyzes a same-face nucleophilic substitution with internal return (SNi). The optimized transition state for the reaction is 13.8 kcal/mol higher in energy than the reactant while the energy of the product complex is 6.7 kcal/mol lower. During the process of nucleophilic attack, a proton is synchronously transferred to the leaving phosphate. The presence of a short-lived metastable oxocarbenium intermediate is likely, as indicated by the reaction energy profiles obtained using high-level density functionals.

• MeSH
• Algorithms MeSH
• Models, Chemical * MeSH
• Glycosylation MeSH
• Glycosyltransferases chemistry   ultrastructure   MeSH
• Catalysis MeSH
• Kinetics MeSH
• Protein Conformation MeSH
• Models, Molecular * MeSH
• Computer Simulation MeSH
• Polysaccharides chemistry   ultrastructure   MeSH
• Protein Binding MeSH
• Binding Sites MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Sledovaný soubor tvořilo 75 pacientů s retinovaným premolárem a kontrolní soubor tvořilo 80 pacientů s fyziologickou výměnou chrupu. Cílem stuúe byla analýza znaků vyskytujících se v chrupu pacientů s retencí/impaktací premolárů. Na ortopantomogramech pacientů jsme sledovaly odchylky erupční dráhy premoláru a pořadí prořezávání laterálních stálých zubů během druhé fáze výměny chrupu. Na sádrových modelech jsme sledovaly ztrátu místa v opěrné zóně. Dalšími znaky sledovanými v souvislosti s retencí premoláru byla ageneze jednoho z premolárů, přítomnost nadpočetných zubů v oblasti premoláru a reinkluze dočasných molárů. Snažily jsme se určit nejčastější kombinace sledovaných znaků, které se u retinovaných/impaktovaných premoláru vyskytovaly a z jejichž manifestace by případně bylo možné včas usuzovat na poruchy erupce premolárů. Nejčastěji retinovaným zubem byl levý dolní druhý premolár, a nejčastější kombinací znaků, která se vyskytovala v chrupu pacientů s retencí/impaktací premoláru, byla ztráta místa v opěrné zóně a odchylka úhlu sklonu erupční dráhy premoláru. Velmi pravděpodobně je tedy retence nebo impaktace premoláru výsledkem více potenciálně patologických jevů a teprve jejich současným výskytem v dané oblasti dochází k retenci nebo impaktaci premoláru.

The sample involved 75 patients with an unerupted premolar, the control sample included 80 patients with physiological transition of dentition. The aim was to make the analysis of characteristic features in the dentition of patients with unerupted/impacted premolars. In panoramic X-ray pictures we observed deviations of the eruption paths of premolars, and sequence of eruption of lateral permanent teeth during the second phase of transition of dentition. In casts we observed the loss of space in the area. Further we observed agenesis of premolar, supernumerary teeth in the premolar area, submerged deciduous molars. We tried to establish the most frequent combinations of features obsen/ed in unerupted premolars, which may help in the early diagnosis of premolar enjption problems. 7he lower second premolar was the most frequent impacted tooth; the loss of space in the area together with deviation in the inclination of eruption path of premolar was the most frequent combination of characteristic features. It is highly probable, that unerupted or impacted premolars are the result of several potentially pathological phenomena, and that the uneruption and/or impaction occur only if these phenomena co-occur.

• MeSH
• Humans MeSH
• Bicuspid pathology   MeSH
• Radiography, Panoramic utilization   MeSH
• Tooth, Impacted physiopathology   pathology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Comparative Study MeSH

• MeSH
• Information Systems MeSH
• Medical Informatics MeSH
• Medicine MeSH
• Publication type
• Congress MeSH
• Collected Work MeSH

• Conspectus
• Lékařské vědy. Lékařství
• NML Fields
• lékařská informatika