Ena-DATASET-IHGUB-03-08-2015-14:22:25:952-12 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001001456 | EGA |
REPOSITORIES: EGA
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Project description:The study comprises 1000Genomes imputed data for 581 MPB cases and 416 male controls. Cases are selected for age<40 and Hamilton-Norwood grade V-VII. Control include 270 males >60 years no signs of AGA (Hamilton-Norwood grade I).
| EGAS00001001354 | EGA
Project description:The title compound, digoxigenone, C(23)H(30)O(5)·H(2)O, was biotransformed from digoxigenin. In the crystal, inter-molecular O-H?O hydrogen bonds contribute to the formation of a three-dimensional supra-molecular structure. The title compound has three fused six-membered rings (A,B,C) and two non-fused five-membered rings (D,E). As in other structures, compound nucleus has a cis-trans-cis conformation for the A-B,B-C,C-D ring junctions with rings A, B and C exhibiting chair conformations.
| S-EPMC3009025 | biostudies-literature
Project description: Not available
| S-EPMC4632850 | biostudies-literature
Project description:Injury to peripheral nerves is not uncommon, and spinal injury with fracture dislocation of the vertebrae can damage roots as well as the cord. Both types of trauma leave the corresponding muscles denervated, resulting in a flaccid paralysis and catastrophic loss of muscle mass. When this occurs in the lower limbs, a loss of cushioning over bony prominences, combined with a deterioration in skin condition, greatly increases the risk of developing pressure sores. Furthermore, bones become osteoporotic and the wasted appearance of the affected limbs can be a source of great distress to patients. Although there has been a longstanding interest in the potential therapeutic value of electrical stimulation of denervated muscles in humans it was always regarded as impractical. In the absence of the nerve or intramuscular nerve branches the muscles must be excited directly. The charge delivery needed for this is so high that the approach has been frustrated by regulatory restrictions and a lack of suitable equipment. More recently, however, these problems were addressed, and the value of stimulation was clearly demonstrated, in a remarkable research programme pursued with the support of the EU Commission Shared Cost Project “RISE”. It is hard to explore the benefits and limitations of the technique in patient groups, which are small and inhomogeneous in age, nature and duration of injury, and compliance. Moreover, the intense surface stimulation elicits co-contraction of antagonistic muscle groups, which interferes with the measurement of force or torque. In Project “RISE”, the important clinical work1 was therefore complemented by Laboratory studies. The usual model, total sciatic section in the rat, is unsatisfactory on two counts. First, denervated rat muscles show evidence of extensive degeneration in a few months,2 differing in this respect from the muscles of other species. Denervated human muscles, in particular, do not undergo significant necrosis for at least a year post-injury (U. Carraro, personal communication), and we could confirm that this was also true of the rabbit.3 Second, most published studies of stimulation in the denervated rat start at, or soon after, the moment of lesion, which does not correspond to the clinical situation. The “RISE” experimental studies to be discussed were conducted by the Muscle Research Group, University of Liverpool, UK, in a long-term model of established selective denervation in the rabbit. The Department for Biomedical Engineering and Physics, University of Vienna, designed the implantable stimulator,4 ultrastructural studies were performed at the Interuniversity Institute of Myology, Chieti, and valuable input was provided by clinical colleagues at the Ludwig Boltzmann Institute of Electrostimulation and Physical Rehabilitation, Wilhelminenspital, Vienna, Austria. Through this joint programme we were able to assemble comprehensive physiological, histological, biochemical, and ultrastructural data on muscles subjected to selective denervation alone for up to 1 year, and muscles subjected to denervation and stimulation for up to 3 months.3,5,6 Although this data settled several issues, and may serve to take some of the guesswork out of the design of stimulation protocols for clinical use, it raised some tantalizing questions. These will be worth addressing in future studies.
| S-EPMC4748996 | biostudies-literature
Project description:Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes, and most contain a normal centromeric region with an alphoid sequence from a single chromosome. The majority of human chromosomes have a unique centromeric DNA-sequence enabling their indubitable characterization. However, chromosomes 14 and 22 share a common centromeric sequence D14/22Z1, and sSMCs with this DNA-stretch can derive from either chromosome. Euchromatin-carrying sSMCs(14 or 22) may be further characterized by molecular cytogenetics. However, in most diagnostic laboratories, heterochromatic sSMCs cannot be differentiated between chromosomes 14 or 22 derivation and are often reported as der(14 or 22). Still, heterochromatic sSMC(14 or 22) can be distinguished from each other using the D22Z4 probe (non-commercial) localized to 22p11.2. Herein, 355 sSMC(14 or 22) analyzed in the authors' laboratory during the last ~ 20 years are summarized to address the questions: (1) What are the true frequencies of chromosome 14- and chromosome 22- derived sSMCs within D14/22Z1-positive cases? (2) Does sub-characterization of sSMC(14) and sSMC(22) make a difference in routine diagnostics? These questions could be answered as follows: (ad 1) within the studied group of sSMCs ~ 40% are derived from chromosome 14 and ~ 60% from chromosome 22; (ad 2) the knowledge on exact sSMC origin can help to save costs in routine diagnostics; i.e. in a clinically abnormal person with sSMC(14) a test for uniparental disomy is indicated, which is not necessary if a chromosome 22 origin for the sSMC was determined.
| S-EPMC7908736 | biostudies-literature
Project description:In the crystal of the title compound, C(24)H(33)NO(9), inter-molecular C-H⋯O hydrogen bonds link the mol-ecules.
| S-EPMC2971007 | biostudies-literature
Project description:In the mol-ecule of the title compound {systematic name: 3-[2-(6-hydr-oxy-5-hydroxy-methyl-5,8a-dimethyl-2-methyl-ene-per-hydro-1-napth-yl)-1-(nitro-meth-yl)eth-yl]-2(4H)-furan-one}, C(21)H(31)NO(6), the cyclo-hexane rings have chair conformations. Intra-molecular O-H⋯O hydrogen bonding results in the formation of a six-membered non-planar ring with a twist conformation. In the crystal structure, inter-molecular O-H⋯O hydrogen bonds link the mol-ecules into infinite chains along the c axis.
| S-EPMC2961773 | biostudies-literature
Project description: Not available
| S-EPMC2494884 | biostudies-literature
Project description:BackgroundWhile drinking alcohol, one must choose between the immediate rewarding effects and the delayed reward of a healthier lifestyle. Individuals differ in their devaluation of a delayed reward based on the time required to receive it, i.e., delay discounting (DD). Previous studies have shown that adolescents discount more steeply than adults and that steeper DD is associated with heavier alcohol use in both groups.MethodsIn a large-scale longitudinal study, we investigated whether higher rates of DD are an antecedent or a consequence of alcohol use during adolescent development. As part of the IMAGEN project, 2220 adolescents completed the Monetary Choice Questionnaire as a DD measure, the Alcohol Use Disorders Identification Test, and the Timeline Follow Back interview at ages 14, 16, 18, and 22. Bivariate latent growth curve models were applied to investigate the relationship between DD and drinking. To explore the consequences of drinking, we computed the cumulative alcohol consumption and correlated it with the development of discounting. A subsample of 221 participants completed an intertemporal choice task (iTeCh) during functional magnetic resonance imaging at ages 14, 16, and 18. Repeated-measures ANOVA was used to differentiate between high-risk and low-risk drinkers on the development of neural processing during intertemporal choices.ResultsOverall, high rates of DD at age 14 predicted a greater increase in drinking over 8 years. In contrast, on average, moderate alcohol use did not affect DD from ages 14 to 22. Of note, we found indicators for less brain activity in top-down control areas during intertemporal choices in the participants who drank more.ConclusionsSteep DD was shown to be a predictor rather than a consequence of alcohol use in low-level drinking adolescents. Important considerations for future longitudinal studies are the sampling strategies to be used and the reliability of the assessments.
| S-EPMC9018624 | biostudies-literature
Project description:In the title compound C(27)H(19)ClO(6), the coumarin ring system is not exactly planar, with a dihedral angle of 4.12?(7)° between its benzene and lactone rings. The cis-fused pyran rings adopt half-chair conformations. The carbometh-oxy and chloro-phenyl groups are in a trans configuration. The crystal packing is stabilized by inter-molecular C-H?O interactions, which produce a centrosymmetric R(2) (2)(14) dimer and two centrosymmetric R(2) (2)(18) dimers connecting the mol-ecules in a two-dimensional fashion.
| S-EPMC3201225 | biostudies-literature