Results 171 to 180 of about 120,195 (312)

Genomic Medicine Sweden: Advancing precision medicine at the national level

Journal of Internal Medicine, EarlyView.
Abstract High‐throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease‐causing genetic alterations and facilitating individualised treatment and care.
Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, David Gisselsson, Paula Mölling, Mia Wadelius, Åsa Johansson, Hannes Olauson, Hans Ehrencrona, Lovisa Lovmar, Christian G. Giske, Henrik Green, Ann Nordgren, Fulya Taylan, Martin Hallbeck, Erika Tång Hallbäck, Anna Green, Markus Heidenblad, Kina Höglund, Anders Jemt, Carl Mårten Lindqvist, Maria Johansson Soller, Magnus Sabel, Colum Walsh, Hartmut Vogt, Craig E. Wheelock, Martin Bergö, Jens Enoksson, Ann Ekberg Jansson, Cecilia Fagerström, Jan Holgersson, Stephanie Anja Juran, Mats G. Karlsson, Frida Lundmark, Eva Tiensuu Janson, Andreas Muranyi Scheutz, Malin Sund, Päivi Östling, Sofia Gruvberger‐Saal, Marene Landström, Malin Melin, Lars Palmqvist, Richard Palmqvist, Bianca Stenmark, Anna Wedell, Malin Karnå, Katarina Nyström, Tobias Strid, Per Sikora, Maria Johansson, Therese Fagerqvist, Mirja Carlsson Möller, Oskar Frisell, Mats Ulfendahl, Mikaela Friedman, Lucia Cavelier, Valtteri Wirta, Thoas Fioretos, Richard Rosenquist   +58 more
wiley   +1 more source

Early-Onset Myocardial Infarction in a 13-Year-Old With Homozygous Familial Hypercholesterolemia Managed by PCI. [PDF]

JACC Case Rep
Siddiqui FI, Ghaffar A, Rehman IU, Zaffar MZ, Hassan A, Mehmood Y, Adhikari S, Noor S.   +7 more
europepmc   +1 more source

Risk of Malignant Transformation in Patients With Oral Lichen Planus or Lichenoid Lesions: A Retrospective Study of 323 Patients With a Minimum of 5‐Year Follow‐Up

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Objective To estimate the risk for oral squamous cell carcinoma (OSCC) among patients with oral lichen planus (OLP) or lichenoid lesions (OLL) and the possible risk factors. Material and Methods Two hundred thirty‐nine OLP and 84 OLL patients diagnosed between years 1982 and 2017 were followed up to December 2023, diagnosis of an OSCC, or ...
Mari Vehviläinen, Tuomas Selander, Tuula Salo, Maria Siponen   +3 more
wiley   +1 more source

Corrigendum to: ApoB100 remodeling and stiffened cholesteryl ester core raise LDL aggregation in familial hypercholesterolemia patients [Journal of Lipid Research 66/1 (2025) 100703]. [PDF]

J Lipid Res
La Chica Lhoëst MT, Martínez A, Garcia E, Dandurand J, Polishchuk A, Benitez-Amaro A, Cenarro A, Civeira F, Bernabé A, Vilades D, Escolà-Gil JC, Samouillan V, Llorente-Cortes V.   +12 more
europepmc   +1 more source

Co‐Design of Strategies to Support the Implementation of a Paediatric Risk‐Reduction Pathway for Familial Hypercholesterolaemia

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Objectives Familial hypercholesterolaemia (FH) affects 1 in 311 people. Left untreated, it elevates LDL‐cholesterol from early life and drives premature atherosclerotic cardiovascular disease. Despite paediatric guidelines for early lipid‐lowering, detection and management in Australia remain suboptimal.
Mitchell Sarkies, Shubha Srinivasan, Ari Horton, Jacquie Garton‐Smith, Gerald F. Watts, Christine Tawtel, Jenny Della‐Vedova, Kristen J. Nowak, Jing Pang, Andrew Martin   +9 more
wiley   +1 more source

Editorial: Molecular informatics in personalized medicine, volume II. [PDF]

Front Med (Lausanne)
Borgio JF, Sharma HS, Almandil NB, AbdulAzeez S, van der Spek PJ.   +4 more
europepmc   +1 more source

A Framework for Ethical and Clinical Governance Evaluation of Innovative Medicines in Children: A Mixed Methods Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim The aim of this project was to develop and implement a working definition and ethical framework for use of innovative medicine in contemporary Australian paediatric practice. Methods A mixed methods research methodology was undertaken using a Delphi process to establish a definition of innovative medicines in paediatric patients.
Sonya Stacey, Jamie Lam, Fiona Gregory, Shakira Wild, Steven McTaggart, Helen Irving   +5 more
wiley   +1 more source

Lifestyle intervention in familial hypercholesterolemia [PDF]

, 2017
Tan, KCB
core  

Familial hypercholesterolemia

Clinica Chimica Acta, 1971
Kehayoglou, K.A., Karli, N.J., Kiriazidis, K.J., Theodossiou, A.   +3 more
openaire   +3 more sources

Osteoporosis and Periodontitis: Two‐Way Epidemiological and Mechanistic Evidence

Journal of Periodontal Research, EarlyView.
This review investigates the main mechanistic pathways connecting local periodontitis to systemic osteoporosis. Seven interconnected mechanisms are identified. ABSTRACT Osteoporosis and periodontitis are highly prevalent, chronic inflammatory diseases that constitute a major global health burden.
Jia Chang, Geeta Madhuri Bhuvanagiri, Megan Dulkanchainun, Cunyu Wang   +3 more
wiley   +1 more source