ASEPTIC: primary antibiotic prophylaxis using co-trimoxazole to prevent SpontanEous bacterial PeritoniTIs in Cirrhosis—study protocol for an interventional randomised controlled trial

Autor: Dominic Crocombe, Norin Ahmed, Indran Balakrishnan, Ekaterina Bordea, Marisa Chau, Louise China, Lynsey Corless, Victoria Danquah, Hakim-Moulay Dehbi, John F. Dillon, Ewan H. Forrest, Nick Freemantle, David Peter Gear, Coral Hollywood, Rachael Hunter, Tasheeka Jeyapalan, Yiannis Kallis, Stuart McPherson, Iulia Munteanu, Jim Portal, Paul Richardson, Stephen D. Ryder, Amandeep Virk, Gavin Wright, Alastair O’Brien

Publikováno v: Trials, Vol 23, Iss 1, Pp 1-14 (2022)

Abstract Background Bacterial infection is a major cause of mortality in patients with cirrhosis. Spontaneous bacterial peritonitis (SBP) is a serious and common infection in patients with cirrhosis and ascites. Secondary prophylactic antibiotic ther

Externí odkaz: https://doaj.org/article/70972166f2b641b0839902f230119dca

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Autor: Marjolein Kriek, Gijs W. E. Santen, Colin A. Johnson, Karen Pysden, Eamonn Sheridan, Matthew E. Hurles, Helen Roper, Anna Raffaello, Subaashini Natarajan, Joanne E. Morgan, Zakia Abdelhamed, Ieke B. Ginjaar, Michael R. Duchen, Johan T. den Dunnen, Rosario Rizzuto, Nicola Roberts, Gabrielle Wheway, Katarzyna Szymanska, Diego De Stefani, A. Reghan Foley, Silvia Torelli, Erik H. Niks, Francesco Muntoni, Yu Sun, David A. Parry, Tamieka Whyte, Dick Lindhout, Iulia Munteanu, David T. Bonthron, Clare V. Logan, Caroline Sewry, Jenny Sharpe, Rahul Phadke, Gyorgy Szabadkai, Anne-Marie Childs, W. Ludo van der Pol

Publikováno v: Nature Genetics; Vol 46
Neuromuscular Disorders
Nature Genetics, 46(2), 188

Mitochondrial Ca(2+) uptake has key roles in cell life and death. Physiological Ca(2+) signaling regulates aerobic metabolism, whereas pathological Ca(2+) overload triggers cell death. Mitochondrial Ca(2+) uptake is mediated by the Ca(2+) uniporter c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dead860a59ae29b5141891512a4a095

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

Autor: Guja Astrea, Rosanna Trovato, Roberta Battini, Iulia Munteanu, Francesco Muntoni, Eugenio Mercuri, Denise Cassandrini, S. Lillis, Elena Pegoraro, Giovanni Cioni

Publikováno v: Pediatric neurology. 52(5)

Background Congenital myopathies are inherited primary disorders of the muscle caused by mutations affecting structural, contractile, or regulatory proteins. In the more than 20 genes associated to these conditions, ryanodine receptor type 1 gene ( R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8215751b00fb699507c92a06cd8762
https://pubmed.ncbi.nlm.nih.gov/25882082

Malignant tumors of digestive organs and liver metastases at the time of diagnosis

Autor: Elena, Toader, V L, Drug, Iulia, Munteanu, Diana, Petroius, Irina, Ciortescu, Oana, Barboi, A, Mohammad

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 116(4)

Malignant tumors localized in the digestive tract have a tendency to local growth and invasion with lymph node metastasis. Distant metastases through blood with prevalent liver location are detected late in disease progression, in an advanced stage,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1b220770838b5913b9ef664549e6ea62
https://pubmed.ncbi.nlm.nih.gov/23700875

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Autor: Ulrike Schara, Janbernd Kirschner, Hanns Lochmüller, Mariacristina Scoto, Haiyan Zhou, Stephanie Robb, Anna Sarkozy, Andrea Klein, Iulia Munteanu, Uffe Birk Jensen, Wojtek Rakowicz, Helen Kingston, Pierre-Yves Jeannet, David P.H. Jones, Maxwell S. Damian, S. Lillis, Cheryl Longman, Volker Straub, Mark Roberts, Elizabeth Wraige, Adnan Y. Manzur, Michaela Auer-Grumbach, Caroline Sewry, Helen Roper, Ros Quinlivan, Imelda Hughes, Natalie Trump, Stephen Abbs, Kate Bushby, Heinz Jungbluth, Fiona Norwood, Francesco Muntoni

Publikováno v: Klein, A, Lillis, S, Munteanu, I, Scoto, M, Zhou, H, Quinlivan, R, Straub, V, Manzur, A Y, Roper, H, Jeannet, P-Y, Rakowicz, W, Jones, D H, Jensen, U B, Wraige, E, Trump, N, Schara, U, Lochmuller, H, Sarkozy, A, Kingston, H, Norwood, F, Damian, M, Kirschner, J, Longman, C, Roberts, M, Auer-Grumbach, M, Hughes, I, Bushby, K, Sewry, C, Robb, S, Abbs, S, Jungbluth, H & Muntoni, F 2012, ' Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies ', Human Mutation, vol. 33, no. 6, pp. 981-8 . https://doi.org/10.1002/humu.22056

Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological findings frequently feature central cores or multi-minicores, more rarely, type 1 predominanc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48c72a3c00cdd1a07941d22b6068bdc
https://www.zora.uzh.ch/id/eprint/74756/