Results 11 to 20 of about 54,753 (257)

Clinical and regional distribution of TTN variants in toe walking: A descriptive cohort study [PDF]

Global Medical Genetics
Background: The TTN gene encodes titin, a key structural protein of the sarcomere. Variants in TTN are frequently identified in genetic testing, but their clinical interpretation remains challenging due to their high prevalence in the general population ...
David Pomarino, Amel Sidi Athmane, Bastian Fregien, Alexander Nazarkin, Kevin M. Rostásy   +4 more
doaj   +2 more sources

Praxis

Rethinking Marxism, 2022
Joel Wainwright
exaly   +2 more sources

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Вопросы современной педиатрии, 2021
Baclground. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein-Taybi and Menke-Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description.
David Pomarino, Anneke Thren, Johanna R. Thren, Kevin Rostasy, Anna A. Emelina   +4 more
doaj   +1 more source

Idiopathic toe walking and heterozygous mutation in the NDGR1 gene: 2 clinical cases

Лечащий Врач, 2021
This article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare ...
D. Pomarino, J. R. Tren, A. A. Emelina
doaj   +1 more source

Genetic Factors Associated with Toe Walking in Children

Вопросы современной педиатрии, 2020
The article describes genetic factors associated with toe walking in children. Association of gait abnormality with variants in genes listed below is shown: PMP22 (peripheral myelin protein 22), EGR2 (early growth response protein 2), AIFM1 (apoptosis ...
David Pomarino, Anneke Thren, Stefaine Morigeau, Johanna R. Thren, Anna A. Emelina   +4 more
doaj   +1 more source

Erratum and republication: Identification of a new Salmonella serovar – Salmonella Weitmar (8:z41:1,5) [PDF]

GMS Infectious Diseases
Carlos José Téllez-Castillo, Ann-Katrin Rekendt, Susanne Kollberg-Dix, Laura Pra-Mio, Claas Scharmann   +4 more
doaj   +2 more sources

Patients with indolent lymphomas are at high risk of infections: experience from a German outpatient clinic

BMC Immunology, 2023
Background Patients with indolent B-cell non-Hodgkin lymphomas (B-NHLs) have an increased risk of infections which is caused by pathomechanisms of the diseases itself but also as a result of anti-tumor therapy.
Christoph Lutz, Stefan Feiten, Geothy Chakupurakal, Jochen Heymanns, Jörg Thomalla, Christoph van Roye, Rudolf Weide   +6 more
doaj   +1 more source

Conceptualising quality early childhood education: Learning from young children in Brazil and South Africa through creative and play‐based methods

British Educational Research Journal, EarlyView., 2023
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright, Irene Rizzini, Malibongwe Gwele, Lynn McNair, Cristina Laclette Porto, Marsha Orgill, E. Kay M. Tisdall, Malcolm Bush, Linda Biersteker   +8 more
wiley   +1 more source

Use, Persistence, Efficacy, and Safety of Apixaban in Patients with Non-Valvular Atrial Fibrillation in Unselected Patients in Germany. Results of the Prospective Apixaban in Atrial Fibrillation (APAF) Registry

Cardiology and Therapy, 2020
Introduction Apixaban has been shown to be superior to warfarin in patients with non-valvular atrial fibrillation in the randomized ARISTOTLE trial and its use is recommended in current guidelines.
Uwe Zeymer, Christiane Lober, Andreas Wolf, Frank Richard, Heinrich Schäfer, Jens Taggeselle, Hans-Joachim Kabitz, Roland Prondzinsky, Tim Süselbeck, the APAF-Investigators   +9 more
doaj   +1 more source

Use of plasma ctDNA as a potential biomarker for longitudinal monitoring of a patient with metastatic high-risk upper tract urothelial carcinoma receiving pembrolizumab and personalized neoepitope-derived multipeptide vaccinations: a case report

Journal for ImmunoTherapy of Cancer, 2021
Upper tract urothelial carcinoma (UTUC) is often diagnosed late and exhibits poor prognosis. Only limited data are available concerning therapeutic regimes and potential biomarkers for disease monitoring.
Arnulf Stenzl, Florian Battke, Martin Schulze, Maria Kopp, Maximilian Frick, Saskia Biskup, Carolin Blumendeller, Julius Boehme, Antje Rinckleb, Christina Kyzirakos, Simone Kayser, Sabine Kelkenberg, Natalia Pieper, Oliver Bartsch, Dirk Hadaschick   +14 more
doaj   +1 more source