A Diagnostic view of the Genetics of CASADIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL, OMIM #125310) is an inherited vascular disease. The main symptoms include migraineous headache, recurrent strokes and progressive cognitive impairment. CADASIL is caused by mutations in the NOTCH3 gene which result in degeneration of vascular smooth muscle cells, arteriolar stenosis and impaired cerebral blood flow. The aims of this study were assessment of the genetic background of Finnish and Swedish CADASIL patients, analysis of genetic and environmental factors that may influence the phenotype, and identification of the optimal diagnostic strategy. The majority of Finnish CADASIL patients carry the p.Arg133Cys mutation. Haplotype analysis of 18 families revealed a region of linkage disequilibrium around the NOTCH3 locus, which is evidence for a founder effect and a common ancestral mutation. Despite the same mutational background, the clinical course of CADASIL is highly variable between and even within families. The association of several genetic factors with the phenotypic variation was investigated in 120 CADASIL patients. Apolipoprotein E allele 4 was associated with earlier occurrence of strokes, especially in younger patients. Study of a pair of monozygotic twins with CADASIL revealed environmental factors which may influence the phenotype, i.e. smoking, statin medication and physical activity. Knowledge of these factors is useful, since life-style choices may influence the disease progression. The clinical CADASIL diagnosis can be confirmed by detection of either the NOTCH3 mutation or granular osmiophilic material by electron microscopy in skin biopsy, although the sensitivity estimates have been contradictory. Comparison of these two methods in a group of 131 diagnostic cases from Finland, Sweden and France demonstrated that both methods are highly sensitive and reliable.Siirretty Doriast

Distinct Characteristics of Rye and Wheat Breads Impact on Their in Vitro Gastric Disintegration and in Vivo Glucose and Insulin Responses

Disintegration of rye and wheat breads during in vitro gastric digestion and its relation to the postprandial glucose and insulin responses of the breads was studied. Breads with distinct composition and texture characteristics were prepared with refined or wholegrain wheat and rye flour by using either straight dough or sourdough process. After chewing and gastric digestion in vitro, 100% wholemeal and refined rye breads prepared by sourdough method were disintegrated to a much lower extent than the wheat breads, having more bread digesta particles with size over 2 or 3 mm. Microstructure of the digesta particles of rye sourdough bread revealed more aggregated and less degraded starch granules when compared to refined wheat bread. The postprandial insulin responses, but not those of glucose, to the 100% rye breads made with sourdough method were lower than the responses to the refined wheat bread. Addition of gluten or bran in rye sourdough bread increased insulin response. PCA (Principal Component Analysis) analysis confirmed that the insulin response had a negative correlation with the number of larger particles after in vitro digestion as well as amount of soluble fiber and sourdough process. Since the high relative proportion of large sized particles after chewing and in vitro gastric digestion was associated with low postprandial insulin responses, the analysis of structural disintegration in vitro is proposed as a complementary tool in predicting postprandial physiology.Peer reviewe

Risk factors for bit-related lesions in Finnish trotting horses

Background Bit-related lesions in competition horses have been documented, but little evidence exists concerning their potential risk factors. Objectives To explore potential risk factors for oral lesions in Finnish trotters. Study design Cross-sectional study. Methods The rostral part of the mouth of 261 horses (151 Standardbreds, 78 Finnhorses and 32 ponies) was examined after a harness race. Information on bit type, equipment and race performance was collected. Results A multivariable logistic regression model of Standardbreds and Finnhorses showed a higher risk of moderate or severe oral lesion status associated with horses wearing a Crescendo bit (n = 38, OR 3.6, CI 1.4–8.9), a mullen mouth regulator bit (n = 25, OR 9.9, CI 2.2-45) or a straight plastic bit (n = 14, OR 13.7, CI 1.75-110) compared with horses wearing a snaffle trotting bit (n = 98, P = .002). Bar lesions (67 horses) were more common in horses wearing unjointed bits than in horses wearing jointed bits (Fisher's exact test P < .001). Lesions in the buccal area and the inner lip commissures were not associated with bit type. Using a tongue-tie or an overcheck, galloping, placement in the top three or money earned in the race were not associated with lesion risk. Main limitations The sample size for certain bit types was insufficient for statistical analysis. Conclusions Moderate and severe oral lesion status was more common in horses wearing a Crescendo bit, a mullen mouth regulator bit or a straight plastic bit than in horses wearing a single-jointed snaffle trotting bit. However, lesions were observed regardless of bit type. Further studies on rein tension, the interaction between bit type and rein tension and prevention of mouth lesions in trotters are warranted.Peer reviewe

Equine herpesvirus 1 – Review

Peer reviewe

Asiakas- ja potilastietojen käsittelyssä syntyvien lokitietojen hallinnan kansalliset vaatimusmäärittelyt : v 1.2

Lokitietojen hallinnan kansalliset vaatimusmäärittelyt -julkaisu kuvaa käyttö- ja luovutuslokien sisältöön ja hallintaan liittyvät vaatimukset asiakas- ja potilastietojärjestelmissä sekä apteekkitietojärjestelmissä. Arkaluonteisten asiakas- ja potilastietojen käytön seurannassa ja valvonnassa lokimerkinnät ja lokiraportit ovat keskeinen väline. Säädösten mukaisesti kaikesta sosiaali- ja terveydenhuollon tietojen käytöstä ja luovutuksista on synnyttävä lokimerkinnät, joiden perusteella käyttöä ja luovutusta voidaan seurata ja valvoa. Tämä asettaa vaatimuksia sekä käytettäville tietojärjestelmäratkaisuille että palvelunantajien toimintatavoille. Asiakas- ja potilastietojen käsittelyyn käytettävissä tietojärjestelmissä on oltava tietojen käytön seurantaa tukevia ominaisuuksia.Julkaisun sähköinen versio:https://yhteistyotilat.fi/wiki08/display/LOTVJULK1.

Käyttölokipalvelun konsepti

Julkaisun sähköinen versio:https://yhteistyotilat.fi/wiki08/display/JULKPKTKäyttölokipalvelun konsepti kuvaa käyttölokitietojen hallintaan liittyviä nykytilan haasteita ja esittää tavoitetilan sekä tarvittavat toimenpiteet tavoitetilan saavuttamiseksi. Kustannus-hyöty -analyysin avulla arvioidaan tavoitetilasta saavutettavia hyötyjä suhteessa kustannuksiin. Toimenpiteiden mahdollinen aikataulutus ja tehtävien järjestys esitetään kehittämisen tiekartan muodossa.Konseptoinnissa hyödynnettiin aiempia THL:n tekemiä esiselvityksiä sekä asiakas- ja potilastietojen käsittelyssä syntyvien lokitietojen hallinnan kansallisia vaatimusmäärittelyjä. Lisäksi tietoa koottiin sosiaali- ja terveydenhuollon toimijoilta sekä julkaistuista raporteista ja tilastoista. Konseptin työstämiseen osallistui THL:n, Kelan sekä sosiaali- ja terveydenhuollon asiantuntijoita. Konsepti tuotettiin Sosiaali- ja terveysministeriön ohjauksessa. Konseptin pohjalta voidaan tehdä linjaus kansallisen käyttölokipalvelun suunnittelun ja toteutuksen käynnistämisestä ja jatkotoimenpiteistä

Impact of Dietary Polyphenols on Carbohydrate Metabolism

Polyphenols, including flavonoids, phenolic acids, proanthocyanidins and resveratrol, are a large and heterogeneous group of phytochemicals in plant-based foods, such as tea, coffee, wine, cocoa, cereal grains, soy, fruits and berries. Growing evidence indicates that various dietary polyphenols may influence carbohydrate metabolism at many levels. In animal models and a limited number of human studies carried out so far, polyphenols and foods or beverages rich in polyphenols have attenuated postprandial glycemic responses and fasting hyperglycemia, and improved acute insulin secretion and insulin sensitivity. The possible mechanisms include inhibition of carbohydrate digestion and glucose absorption in the intestine, stimulation of insulin secretion from the pancreatic β–cells, modulation of glucose release from the liver, activation of insulin receptors and glucose uptake in the insulin-sensitive tissues, and modulation of intracellular signalling pathways and gene expression. The positive effects of polyphenols on glucose homeostasis observed in a large number of in vitro and animal models are supported by epidemiological evidence on polyphenol-rich diets. To confirm the implications of polyphenol consumption for prevention of insulin resistance, metabolic syndrome and eventually type 2 diabetes, human trials with well-defined diets, controlled study designs and clinically relevant end-points together with holistic approaches e.g., systems biology profiling technologies are needed

Behavioral Signs Associated With Equine Cheek Tooth Findings

Equine dental diseases are often underdiagnosed and their signs inadequately reported. Many horse owners have difficulties in recognizing pain-related behavioral signs and in associating them with dental pain. Our objective was to determine what type and degree of dental findings may cause behavioral signs associated with dental pain. In this cross-sectional study, dental examination was performed on 183 adult horses and cheek tooth findings were scored. Owners filled in an internet-based questionnaire including 35 questions concerning eating behavior, bit behavior, and general behavior of the horse. Descriptive statistics and logistic regression analyses were performed. Broadened or darkened fissures [odds ratio (OR) 2.4, 95% confidence interval (CI) 1.04–5.7), complicated fractures (OR 2.3, CI 1.01–5.2) and secondary dentine defects of at least the second degree (OR 3.1, CI 1.2–7.7) were associated with the expression of at least five behavioral signs in the univariable binomial logistic regression analyses. Horses with at least one of these potentially painful cheek tooth findings expressed more signs related to eating behavior, bit behavior, and general behavior than did the other horses. The results suggest that cheek tooth findings indicated by this study as being potentially painful, i.e. broadened or darkened fissures, complicated fractures and secondary dentine defects of at least the second degree, may require intervention, particularly if the horse expresses any behavioral signs that might be related to dental pain.Peer reviewe

<em>In vitro</em> microbiotic fermentation causes an extensive metabolite turnover of rye bran phytochemicals

The human gut hosts a microbial community which actively contributes to the host metabolism and has thus remarkable effect on our health. Intestinal microbiota is known to interact remarkably with the dietary constituents entering the colon, causing major metabolic conversions prior to absorption. To investigate the effect of microbial metabolism on the phytochemical pool of rye bran, we applied an in vitro simulated colonic fermentation where samples were collected with intervals and analyzed by LC-MS based non-targeted metabolite profiling. The analyses revealed extensive metabolic turnover on the phytochemical composition of the bran samples, and showed effects on all the metabolite classes detected. Furthermore, the majority of the metabolites, both the precursors and the conversion products, remained unidentified indicating that there are numerous yet unknown phytochemicals, which can potentially affect on our health. This underlines the importance of comprehensive profiling assays and subsequent detailed molecular investigations in order to clarify the effect of microbiota on phytochemicals present in our everyday diet

Ravihevosten suuvaurioista kuolaimen alueella

Ravikilpailun jälkeen tutkittiin systemaattisesti 261 ravihevosen suun etuosa. Tutkimusaineisto kerättiin Suomen Hippos ry:n ravihevosten hyvinvointiprojektissa. Ennen tätä tutkimusta ei ole ollut tietoa verta ulospäin vuotamattomien suiden terveydentilasta