Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

Autor: Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen

Publikováno v: International Journal of Neonatal Screening, Vol 7, Iss 3, p 50 (2021)

Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and

Externí odkaz: https://doaj.org/article/e2d3d02166b1482183928729f9ccf7df

Myopathy as a cause of Long COVID fatigue:Evidence from quantitative and single fiber EMG and muscle histopathology

Autor: Jane Agergaard, Benjamin Yamin Ali Khan, Thomas Engell-Sørensen, Berit Schiøttz-Christensen, Lars Østergaard, Eva K. Hejbøl, Henrik D. Schrøder, Henning Andersen, Jakob Udby Blicher, Thomas Holm Pedersen, Thomas Harbo, Hatice Tankisi, Anders Lehmann Dahl Pedersen, Andreas Fløe Hvass, Cagla Cömert, Christoffer Laustsen, Elisabeth Bendstrup, Gregory Wood, Hans Erik Bøtker, Johan Palmfeldt, Kristoffer Skaalum, Lars Jørgen Østergaard, Line Vibholm, Martin Mølhave, Rikke Katrine Jentoft Olsen, Sofie Eg Jørgensen, Steen Hvitfeldt Poulsen, Steffen Leth, Søren Sperling Haugen, Trine H. Mogensen, William Ullahammer, Won-Yong Kim

Publikováno v: Agergaard, J, Yamin Ali Khan, B, Engell-Sørensen, T, Schiøttz-Christensen, B, Østergaard, L, Hejbøl, E K, Schrøder, H D, Andersen, H, Blicher, J U, Holm Pedersen, T, Harbo, T, Tankisi, H & MULTICOV Consortium 2023, ' Myopathy as a cause of Long COVID fatigue : Evidence from quantitative and single fiber EMG and muscle histopathology ', Clinical Neurophysiology, vol. 148, pp. 65-75 . https://doi.org/10.1016/j.clinph.2023.01.010
MULTICOV Consortium 2023, ' Myopathy as a cause of Long COVID fatigue : Evidence from quantitative and single fiber EMG and muscle histopathology ', Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, vol. 148, pp. 65-75 . https://doi.org/10.1016/j.clinph.2023.01.010
Agergaard, J, Yamin Ali Khan, B, Engell-Sørensen, T, Schiøttz-Christensen, B, Jørgen Østergaard, L, Hejbøl, E K, Schrøder, H D, Andersen, H, Blicher, J U, Holm Pedersen, T, Harbo, T, Tankisi, H & MULTICOV Consortium 2023, ' Myopathy as a cause of Long COVID fatigue : Evidence from quantitative and single fiber EMG and muscle histopathology ', Clinical Neurophysiology, vol. 148, pp. 65-75 . https://doi.org/10.1016/j.clinph.2023.01.010

ObjectiveTo describe neurophysiological abnormalities in Long COVID and correlate quantitative electromyography (qEMG) and single fiber EMG (sfEMG) results to clinical scores and histopathology.Methods84 patients with non-improving musculoskeletal Lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d24d6dc9fbbe811be63c9d75c347c7b
https://vbn.aau.dk/da/publications/ab3d1258-616a-438e-96be-f1f08a865ff4

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD:A single-center retrospective study

Autor: Chuanzhu Yan, Dandan Zhao, Jingwen Xu, Rikke Katrine Jentoft Olsen, Xiaoqing Lv, Tan Wang, Yuying Zhao, Kai Shao, Bing Wen, Duoling Li, Wei Li, Shuyao Tang

Publikováno v: Wen, B, Tang, S, Lv, X, Li, D, Xu, J, Olsen, R K J, Zhao, Y, Li, W, Wang, T, Shao, K, Zhao, D & Yan, C 2022, ' Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD : A single-center retrospective study ', Human Molecular Genetics, vol. 31, no. 7, pp. 1115-1129 . https://doi.org/10.1093/hmg/ddab308

To observe a long-term prognosis in late-onset multiple acyl-coenzyme-A dehydrogenation deficiency (MADD) patients and to determine whether riboflavin should be administrated in the long-term and high-dosage manner, we studied the clinical, pathologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4550ca9d70be90ad0fa0b2cb5d24e213
https://pure.au.dk/portal/da/publications/clinical-pathological-and-genetic-features-and-followup-of-110-patients-with-lateonset-madd(1981232c-995f-40a9-82a4-fd240cdc369a).html

Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study

Autor: Susanne E. Boonen, Louise Brinth, Paula Fernandez-Guerra, Johan Palmfeldt, Niels Gregersen, Julie Courraud, Jesper Mehlsen, Ana C. Gonzalez-Ebsen, Rikke Katrine Jentoft Olsen

Publikováno v: Biomolecules, Vol 11, Iss 961, p 961 (2021)
Fernandez-Guerra, P, Gonzalez-Ebsen, A C, Boonen, S E, Courraud, J, Gregersen, N, Mehlsen, J, Palmfeldt, J, Olsen, R K J & Brinth, L S 2021, ' Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients : An Exploratory Study ', Biomolecules, vol. 11, no. 7, 961 . https://doi.org/10.3390/biom11070961
Biomolecules
Volume 11
Issue 7
Fernandez-Guerra, P, Gonzalez-Ebsen, A C, Boonen, S E, Courraud, J, Gregersen, N, Mehlsen, J, Palmfeldt, J, Olsen, R K J & Brinth, L S 2021, ' Bioenergetic and proteomic profiling of immune cells in myalgic encephalomyelitis/chronic fatigue syndrome patients : An exploratory study ', Biomolecules, vol. 11, no. 7, 961 . https://doi.org/10.3390/biom11070961

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a heterogeneous, debilitating, and complex disease. Along with disabling fatigue, ME/CFS presents an array of other core symptoms, including autonomic nervous system (ANS) dysfunction, su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0506f02208d08da754021211a6c63d88
https://www.mdpi.com/2218-273X/11/7/961

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Autor: Christian Staufner, Slama A, Agnieszka Nadel, von Kleist-Retzow J, Mayr H, Thomas Meitinger, Ines F. Scheller, Loipfinger S, Peter Freisinger, Christina Ludwig, Kei Murayama, Smirnov D, Bucher M, Felix Distelmaier, Nasca A, Chen Meng, René Santer, Kulterer L, Sarah L. Stenton, Yepez, Jürgen Behr, Akira Ohtake, Maja Hempel, T. M. Strom, Metodi D. Metodiev, Saskia B. Wortmann, Christian Mertes, Mirjana Gusic, Holger Prokisch, Baski R, Dorota Piekutowska-Abramczuk, Verloo P, Riccardo Berutti, Rikke Katrine Jentoft Olsen, Robert Kopajtich, Daniele Ghezzi, Costanza Lamperti, Detlev Schindler, Julien Gagneur, Yasushi Okazaki, Roetig A

By lack of functional evidence, genome-based diagnostic rates cap at approximately 50% across diverse Mendelian diseases. Here, we demonstrate the effectiveness of combining genomics, transcriptomics, and, for the first time, proteomics and phenotypi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ebb00b9f36f99cf158fd26b59438d08d
https://doi.org/10.1101/2021.03.09.21253187