The disease can be easily recognized by looking into the mouth: most patients have a split uvula. The disease can be severe and affect the heart, the muscles, the liver and many other organs. Further research revealed a novel therapy: galactose can successfully be applied to treat patients. The main source of galactose is lactose, better known as milk sugar.
As "uvula bifida" physician denote the longitudinal splitting of the uvula. It can be an indication of a PGM1 deficiency
A group of patients was identified with defects in this enzyme leading to a multitude of clinical symptoms. Project leader Thorsten Marquardt, University’s Children Hospital Münster: "Patients present with muscle pain or red urine after exercise, liver disease with low blood sugar levels, heart failure and other symptoms. This reflects the multitude of pathways that is linked to PGM1. But most importantly, patients can be readily identified by the presence of a split uvula which can easily be found by inspection of the mouth.” Dirk Lefeber, Radboud University Medical Center and co-leader of the project: “Innovative technology allowed us to analyze the precise glycan structures on blood proteins. This resulted in a specific biomarker that can now be applied to quickly diagnose patients with a simple blood test. The research not only linked energy metabolism with protein glycosylation via PGM1, but also highlighted important features of disease pathology.”
Radboud university medical center is an institute for patient care, research and education & training, located in Nijmegen. Our mission is to have a significant impact on healthcare. We aim to be a frontrunner in the development of innovative, sustainable and affordable healthcare. By offering excellent quality, participatory and personalised healthcare, operational excellence and sustainable networks. Our almost 10,000 employees and over 3,000 students do their utmost every day to make a positive contribution to the future of healthcare and medical sciences.
Here in the University Medicine Münster the manifold specialized competences of the University Hospital Münster (UKM) and the University Münster (WWU) meet. The UKM as a maximum care hospital with a capacity of 1,457 beds and more than 30 clinics delivers best-in-class medicine and high performance medical care to round about 56,000 ambulant patients as well as to 464,000 in-patient cases. Excellent research is conducted here by 2,000 scientists and the medical training of round about 3,000 future medical doctors is carried out at the Medical Faculty of the University Münster. Thanks to the close cooperation of both institutes the results gained from the research at the Medical Faculty are directly passed on to the health care of the University Hospital Münster.
Thomas Bauer | idw
Antioxidants cause malignant melanoma to metastasize faster
09.10.2015 | University of Gothenburg
Finding cannabinoids in hair does not prove cannabis consumption
07.10.2015 | Universitätsklinikum Freiburg
Nondestructive material testing (NDT) is a fast and effective way to analyze the quality of a product during the manufacturing process. Because defective materials can lead to malfunctioning finished products, NDT is an essential quality assurance measure, especially in the manufacture of safety-critical components such as automotive B-pillars. NDT examines the quality without damaging the component or modifying the surface of the material. At this year's Blechexpo trade fair in Stuttgart, Fraunhofer IZFP will have an exhibit that demonstrates the nondestructive testing of high-strength automotive body parts using 3MA. The measurement results are available in a matter of seconds.
To minimize vehicle weight and fuel consumption while providing the highest level of crash safety, automotive bodies are reinforced with elements made from...
The MICADO camera, a first light instrument for the European Extremely Large Telescope (E-ELT), has entered a new phase in the project: by agreeing to a Memorandum of Understanding, the partners in Germany, France, the Netherlands, Austria, and Italy, have all confirmed their participation. Following this milestone, the project's transition into its preliminary design phase was approved at a kick-off meeting held in Vienna. Two weeks earlier, on September 18, the consortium and the European Southern Observatory (ESO), which is building the telescope, have signed the corresponding collaboration agreement.
As the first dedicated camera for the E-ELT, MICADO will equip the giant telescope with a capability for diffraction-limited imaging at near-infrared...
Self-driving cars will be on our streets in the foreseeable future. In Graz, research is currently dedicated to an innovative driver assistance system that takes over control if there is a danger of collision. It was nature that inspired Dr Manfred Hartbauer from the Institute of Zoology at the University of Graz: in dangerous traffic situations, migratory locusts react around ten times faster than humans. Working together with an interdisciplinary team, Hartbauer is investigating an affordable collision detector that is equipped with artificial locust eyes and can recognise potential crashes in time, during both day and night.
Inspired by insects
An interdisciplinary team of researchers has built the first prototype of a miniature particle accelerator that uses terahertz radiation instead of radio...
At present, tiny magnetic whirls – so called skyrmions – are discussed as promising candidates for bits in future robust and compact data storage devices. At...
01.10.2015 | Event News
30.09.2015 | Event News
17.09.2015 | Event News
09.10.2015 | Earth Sciences
09.10.2015 | Life Sciences
09.10.2015 | Life Sciences