Search results for " Genetics"

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

2015

Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining n…

Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotoni…

2018

ABSTRACT Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats. Pathogenic DMPK RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations in metabolism of various RNAs. Cardiac dysfunction represents the second most common cause of death in DM type 1 (DM1) patients. However, the contribution of MBNL sequestration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), the Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resem…

Evaluation of the risk factors of asymptomatic vertebral fractures in postmenopausal women with osteopenia at the femoral neck

2016

To identify risk factors of asymptomatic vertebral fracture (aVF) in postmenopausal women with osteopenia at the femoral neck and to evaluate the association between the number of aVFs and the risk of major and hip osteoporotic fracture calculated with the FRAX(®) algorithm.Epidemiological case-series study with data collected transversally.728 postmenopausal women with osteopenia were included: 284 (39.0%) had aVF, of whom 200 (70.4%) had prior fragility fractures (FF). The likelihood of having an osteoporotic fracture in the next 10 years increased significantly with the number of aVF. The percentage of women with height loss, which was assessed as the difference between the greatest heig…

Genetische Hämochromatose und das HFE-Gen: von der Molekulargenetik zur klinischen Diagnostik

2000

More than 90% of patients with genetic hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y). HFE modulates the iron uptake by the transferrin receptor. Duodenal crypt cells of HFE-knockout mice show low intracellular iron concentrations which lead to an upregulation of the divalent metal transporter and enhanced iron uptake by duodenal enterocytes. Heterozygosity for the C282Y mutation appears to alter the course of other liver diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.

Interactions and patterns between species diversity and genetic diversity

2015

Predator mimicry, not conspicuousness, explains the efficacy of butterfly eyespots

2015

Large conspicuous eyespots on butterfly wings have been shown to deter predators. This has been traditionally explained by mimicry of vertebrate eyes, but recently the classic eye-mimicry hypothesis has been challenged. It is proposed that the conspicuousness of the eyespot, not mimicry, is what causes aversion due to sensory biases, neophobia or sensory overloads. We conducted an experiment to directly test whether the eye-mimicry or the conspicuousness hypothesis better explain eyespot efficacy. We used great tits ( Parus major ) as model predator, and tested their reaction towards animated images on a computer display. Birds were tested against images of butterflies without eyespots, wi…

Effect of Pulp Pigmentation Intensity on Consumer Acceptance of New Blood Mandarins: A Cross-Cultural Study in Spain and Italy

2022

One of the current objectives of different citrus breeding programmes is obtaining new pigmented mandarins. This study investigates to what extent consumer preferences, expectations and purchase intention are affected by the appearance of new mandarins, specifically pulp pigmentation intensity. Four hundred consumers from both Italy and Spain (800 in all) participated in the study. In each country, half were informed about the healthy properties of the anthocyanins responsible for red pulp colouration, while the other half were not. Italians more readily accepted new mandarin varieties than Spaniards, which was linked to them being more familiar with blood oranges. In Italy, both slight- an…

ACKERMANS et al.

2019

One reason for the mammalian clade’s success is the evolutionary diversity of their teeth. In herbivores, this is represented by high‐crowned teeth evolved to compensate for wear caused by dietary abrasives like phytoliths and grit. Exactly how dietary abrasives wear teeth is still not understood completely. We fed four different pelleted diets of increasing abrasiveness (L: Lucerne; G: grass; GR: grass and rice husks; GRS: grass, rice husks, and sand) to four groups of a total of 28 adult goats, all with completely erupted third molars, over a six‐month period. Tooth morphology was captured by medical computed tomography scans at the beginning and end of the controlled feeding experi…

(Ré)concilier éclairage urbain et environnement nocturne : les enjeux d’une controverse sociotechnique

2014

International audience; Our paper explains the birth of an environmental problem, i.e. light pollution, viewed as a socio-technical controversy. Supported by the actor-network approach, it traces over forty years the conditions of its emergence, transformation and dissemination to local, national and transnational levels and through various professional disciplines. Schematically, “environmentalists” uphold a holistic approach of “nocturnality” and define artificial light as a pollutant. Facing them, the “technicist” defends a segmented approach and defines artificial light as a nuisance. The introduction of this controversy into the political agenda leads to institutional decisions that gr…

COVID-19 and the Pancreas: A Narrative Review.

2022

The outbreak of COVID-19, initially developed in China in early December 2019, has rapidly spread to other countries and represents a public health emergency of international concern. COVID-19 has caused great concern about respiratory symptoms, but it is worth noting that it can also affect the gastrointestinal tract. However, the data on pancreatic involvement during SARS-CoV-2 infection are limited. The prevalence and severity of pancreatic damage and acute pancreatitis, as well as its pathophysiology, are still under debate. Moreover, the possible implication of pancreatic damage as an apparent adverse effect of COVID-19 therapies or vaccines are issues that need to be addressed. Finall…