Search results for "GENETICS"
showing 10 items of 12494 documents
The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Pl…
2021
Background: The ISTH Bleeding Assessment Tool (ISTH-BAT) has been validated for clinical screening of suspected von Willebrand disease (VWD) and for bleeding prediction. Recently it has been validated for subjects with inherited platelet disorders (IPD) (BAT-VAL study). Objectives: To determine whether the ISTH-BAT bleeding score (BS) predicts subsequent bleeding events requiring treatment in IPD patients. Methods: Patients with IPD, type 1 VWD (VWD-1) and age- and sex-matched healthy controls enrolled in the BAT-VAL study were prospectively followed-up for 2 years and bleeding episodes requiring treatment were recorded. Results: Of the 1098 subjects initially enrolled, 955 were followed-up…
Involvement of Different networks in mammary gland involution after the pregnancy/lactation cycle: Implications in breast cancer
2015
Early pregnancy is associated with a reduction in a woman's lifetime risk for breast cancer. However, different studies have demonstrated an increase in breast cancer risk in the years immediately following pregnancy. Early and long-term risk is even higher if the mother age is above 35 years at the time of first parity. The proinflammatory microenvironment within the mammary gland after pregnancy renders an "ideal niche" for oncogenic events. Signaling pathways involved in programmed cell death and tissue remodeling during involution are also activated in breast cancer. Herein, the major signaling pathways involved in mammary gland involution, signal transducer and activator of transcripti…
Intra-populational and intra-individual mosaicisms of Uranoscopus scaber L. (Perciformes, Uranoscopidae)
1991
Intra-populational and intra-individual mosaicisms of Uranoscopus scaber L. (Perciformes, Uranoscopidae)
Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy …
2015
Data on the effect of combined genetic polymorphisms, involved in folate metabolism, on the concentration of serum folate after folic acid supplementation are scarce. Therefore, we investigated the impact of seven gene polymorphisms on the concentration of serum folate and p-tHcy in healthy subjects after short-term folic acid supplementation. In a randomized, double blind, crossover study, apparently healthy subjects were given either 0.8 mg folic acid per day (n = 46) or placebo (n = 45) for 14 days. The washout period was 14 days. Fasting blood samples were collected on day 1, 15, 30 and 45. Data on subjects on folic acid supplementation (n = 91) and on placebo (n = 45) were used for the…
Preliminary identification and quantification of steroid hormones in the red palm weevil, Rhynchophorus ferrugineus
2012
In the present preliminary study, we used a gas chromatography–mass spectroscopy (GC-MS) method to identify and quantify steroid hormones, their precursors and metabolites in whole body of red palm weevil (RPW) R. ferrugineus adults. We identified a total of seven steroids by single ion monitoring mode (SIM) analysis and compared them to the National Institute of Standards and Technology (NIST) library. The steroids include: dehydroepiandrosterone (DHEA), estrone, estradiol-17β, testosterone, progesterone, cortisol and cholesterol, whereas pregnenolone, pregnan-20-one-17-hydroxy and corticosterone were not detected. This study shows that some invertebrate groups seem to use partially or tot…
THU0413 New Formulation with Potential for the Prevention and Treatment of Osteoporosis and Osteoarthritis
2013
Background Osteoarthritis (OA) is a multidimensional disease that affects all anatomical joint structures, particularly cartilage, synovium and subchondral bone. In turn, osteoporosis (OP) is a skeletal disorder characterized by a compromised bone strength which substantially increases the risk of fracture. Both are common disorders which affect quality of life in elderly. Despite this, there is not any drug at the moment for the simultaneous prevention and treatment of osteoporosis and osteoarthritis. Objectives The aim of this study was to investigate the effect of a new formulation in a combined rat model of OP and OA. The formulation (BIS076) contains Vitamin D3, Hydroxyapatite as a sou…
The WFH Haemophilia Centre Twinning Programme: 10 years of growth, 1993-2003
2003
The World Federation of Haemophilia (WFH) Twinning Programme celebrates its tenth anniversary this year. Twinning is one of several international WFH programmes designed to improve haemophilia care at a global level. There are two types of twinning, and the haemophilia treatment centre twinning programme should be distinguished from the WFH haemophilia organization twinning involving national member organizations. The WFH Haemophilia Treatment Centre Twinning Programme helps emerging haemophilia treatment centres develop partnerships with well-established and experienced centres. Twinning can improve diagnosis and clinical care through coaching, training and transfer of expertise, ultimatel…
Porphyria cutanea tarda und Farbenblindheit
1966
Die Untersuchung von 15 Kranken mit Porphyria cutanea tarda auf das Vorliegen von Farbsinnstorungen ergab eine uberzufallige Korrelation von Porphyria cutanea tarda und angeborener Deuteranomalie.