11 research outputs found
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with glycogenin-1 deficiency.
OBJECTIVE:
The objective of this article is to investigate the importance of glycogenin-1 and glycogenin-2 for glycogen synthesis in skeletal and cardiac muscle.
DESIGN, SETTING, AND PATIENTS:
Glycogenin-1 and glycogenin-2 expression was analyzed by Western blot, mass spectrometry, and immunohistochemistry in liver, heart, and skeletal muscle from controls and in skeletal and cardiac muscle from patients with glycogenin-1 deficiency.
RESULTS:
Glycogenin-1 and glycogenin-2 both were found to be expressed in the liver, but only glycogenin-1 was identified in heart and skeletal muscle from controls. In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. By immunohistochemistry, the mutated glycogenin-1 colocalized with the storage of glycogen and polyglucosan in cardiomyocytes.
CONCLUSIONS:
Glycogen can be synthesized in the absence of glycogenin, and glycogenin-1 deficiency is not compensated for by upregulation of functional glycogenin-2. Absence of glycogenin-1 leads to the focal accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy
3D video quality of experience - influence of scale and crosstalk
This paper gives an overview of three recent studies by the authors on the topic of 3D video Quality of Experience (QoE). Two of studies [1,2] investigated different psychological dimension that may be needed for describing 3D video QoE and the third the visibility and annoyance of crosstalk[3]. The results shows that the video quality scale could be sufficient for evaluating S3D video experience for coding and spatial resolution reduction distortions. It was also confirmed that with a more complex mixture of degradations more than one scale should be used to capture the QoE in these cases. The study found a linear relationship between the perceived crosstalk and the amount of crosstalk
Analys av 3D-visningsupplevelse viasubjektiva utvärderingsmetoder
3D video technology has in recent years become immensely popular given the success 3D movies have had at the cinemas. More and more people have therefore requested to be able to experience this 3D sensation beyond the cinematic screens, and at the comfort of one’s home in front of the TV. Leading television manufacturers have responded by producing modern television sets capable of rendering 3D video, and several TV channels around the world have started to broadcast programs and movies in 3D. Since it is not yet clear what constitutes the overall visual experience of 3DTV, the purpose of this master ’s thesis project is to explore through subjective testing methods the relevance that some aspects might have concerning the 3DTV viewing experience. Another aim is to advance the standardization work regarding subjective evaluation methods for stereoscopic 3D videos. Key 3D terminology and concepts are presented, as well as subjective evaluation methodologies. Stereoscopic 3D video sequences were produced; a customization of a rating-capable video player was made; 3D viewing-and-voting experiments with test subjects were carried out; different attributes were incorporated into the experiments and evaluated such as video quality, visual discomfort, sense of presence and viewing distance; experiment data were collected and analyzed. The experiment results indicated that viewers in general showed an inclination to vote similarly for the different attributes that were examined. This in turn showed that video sequences with the characteristics presented in the experiments, mostly coding related distortions, could be assessed with subjective evaluation methods focusing solely on one rating scale concerning the general video quality, which would give a good understanding of the 3D video quality experience.3D-videoteknologi har de senaste åren blivit oerhört populärt i och med framgångarna som 3D-filmer har rönt på biograferna. Fler och fler människor har därmed efterfrågat att kunna erfara denna 3Dupplevelse bortom bioduken, och inne i hemmets lugna vrå framför TV:n. Ledande TV-tillverkare har i sin tur svarat med att producera moderna TV-apparater kapabla att kunna återge video i 3D, och flera TV-kanaler runt om i världen har även börjat sända program och filmer i 3D. Eftersom det ännu inte är helt klarlagt vad som utgör den samlade visuella upplevelsen av 3DTV, är syftet med detta examensarbete att genom subjektiva testmetoder utforska relevansen som vissa aspekter kan ha när det gäller 3DTV-upplevelsen. Ett annat syfte är att främja standardiseringsarbetet med avseende på subjektiva utvärderingsmetoder för stereoskopiska 3D-sekvenser. Nyckelterminologi och begrepp inom 3D presenteras, liksom subjektiva utvärderingsmetoder. Stereoskopiska 3D-videosekvenser producerades; en modifikation av en röstningskapabel videospelare gjordes; 3D visnings- och röstningsexperiment med testpersoner genomfördes; olika attribut infördes i experimenten och evaluerades såsom videokvalitet, visuellt obehag, närvarokänsla och visningsavstånd; data insamlades och analyserades. Resultaten av experimenten indikerade att tittarna i allmänhet visade en benägenhet att rösta på samma sätt för de olika attribut som granskats. Detta visade i sin tur att videosekvenser med de egenskaper som presenterades i experimenten, mestadels kodningsrelaterade distorsioner, kunde evalueras via subjektiva utvärderingsmetoder som enbart fokuserar på en skala gällande den allmänna videokvaliteten, som därmed skulle ge en god förståelse för 3Dvideoupplevelsen
Carbon footprint impact of the choice of inhalers for asthma and COPD
In the 1990s, metered dose inhalers (MDIs) containing chlorofluorocarbons were replaced with dry-powder inhalers (DPIs) and MDIs containing hydrofluorocarbons (HFCs). While HFCs are not ozone depleting, they are potent greenhouse gases. Annual carbon footprint (CO(2)e), per patient were 17 kg for Relvar-Ellipta/Ventolin-Accuhaler; and 439 kg for Seretide-Evohaler/Ventolin-Evohaler. In 2017, 70% of all inhalers sold in England were MDI, versus 13% in Sweden. Applying the Swedish DPI and MDI distribution to England would result in an annual reduction of 550 kt CO(2)e. The lower carbon footprint of DPIs should be considered alongside other factors when choosing inhalation devices
Effects of switching from a metered dose inhaler to a dry powder inhaler on climate emissions and asthma control : post-hoc analysis
OBJECTIVE: To compare the effects of switching from a pressurised metered dose inhaler (pMDI)-based to a dry powder inhaler (DPI)-based maintenance therapy versus continued usual care on greenhouse gas emissions (carbon dioxide equivalents, CO2e) and asthma control. METHODS: This post-hoc analysis was based on a subset of 2236 (53%) patients from the Salford Lung Study in Asthma who at baseline were using a pMDI-based controller therapy. During the study patients were randomised to fluticasone furoate/vilanterol (FF/VI) via the ELLIPTA DPI (switched from pMDI to DPI) (n=1081) or continued their usual care treatment (n=1155), and were managed in conditions close to everyday clinical practice. Annual CO2e (kg) was calculated for the total number of maintenance and rescue inhalers prescribed. Asthma control was assessed by the proportion of ACT responders (composite of ACT total score ≥20 and/or increase from baseline ≥3). RESULTS: The groups were well matched for demographic characteristics and baseline Asthma Control Test (ACT) total score (mean age: 49 years; mean ACT score: usual care, 16.6; FF/VI, 16.5). Annual CO2e kg per patient (maintenance plus rescue therapy) was significantly lower with FF/VI DPI treatment ('switch' group) than usual care (least squares geometric mean 108 kg (95% CI 102 to 114) vs 240 kg (95% CI 229 to 252), p<0.001). Asthma control was consistently superior over the 12 months in the FF/VI DPI group compared with usual care. CONCLUSIONS: Patients switching from a pMDI-based to a DPI-based maintenance therapy more than halved their inhaler carbon footprint without loss of asthma control. The remaining inhaler carbon footprint could be reduced through switches from pMDI to DPI rescue medications or alternative lower-carbon footprint rescue inhalers if available. Asthma control improved in both groups, with greater control demonstrated in those initiated on FF/VI DPI. TRIAL REGISTRATION NUMBER: NCT01706198
Plasma proteomics and lung function in four community-based cohorts
BACKGROUND: Underlying mechanism leading to impaired lung function are incompletely understood. OBJECTIVES: To investigate whether protein profiling can provide novel insights into mechanisms leading to impaired lung function. METHODS: We used four community-based studies (n = 2552) to investigate associations between 79 cardiovascular/inflammatory proteins and forced expiratory volume in 1 s percent predicted (FEV1%) assessed by spirometry. We divided the cohorts into discovery and replication samples and used risk factor-adjusted linear regression corrected for multiple comparison (false discovery rate of 5%). We performed Mendelian randomization analyses using genetic and spirometry data from the UK Biobank (n = 421,986) to assess causality. MEASUREMENTS AND MAIN RESULTS: In cross-sectional analysis, 22 proteins were associated with lower FEV1% in both the discovery and replication sample, regardless of stratification by smoking status. The combined proteomic data cumulatively explained 5% of the variation in FEV1%. In longitudinal analyses (n = 681), higher plasma levels of growth differentiation factor 15 (GDF-15) and interleukin 6 (IL-6) predicted a more rapid 5-year decline in lung function (change in FEV1% per standard deviation of protein level -1.4, (95% CI, -2.5 to -0.3) for GDF-15, and -0.8, (95% CI, -1.5 to -0.2) for IL-6. Mendelian randomization analysis in UK-biobank provided support for a causal effect of increased GDF-15 levels and reduced FEV1%. CONCLUSIONS: Our combined approach identified GDF-15 as a potential causal factor in the development of impaired lung function in the general population. These findings encourage additional studies evaluating the role of GDF-15 as a causal factor for impaired lung function