Results 81 to 90 of about 17,949 (246)

Multifactorial inheritance in man.

Canadian family physician Medecin de famille canadien, 2013
The interaction of genetic and non-genetic factors, termed `multifactorial inheritance', contributes to a large proportion of medical disorders. Spina bifida and type-II diabetes mellitus are two common conditions considered to be multifactorial. Using clinical examples, the author of this paper explores the basis of this mode of inheritance and its ...
openaire   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Sex‐Specific Differences in Perinatal Risk Factors for Atopic Dermatitis: A Large Retrospective Population‐Based Cohort Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim This study was designed to determine whether gestational age at birth, the method of delivery, or birth weight were associated with the risk of developing atopic dermatitis (AD), and whether the association of risk factors differed between the sexes.
Roosa Moilanen, Eero Pohjola, Laura Huilaja, Jari Jokelainen, Suvi‐Päivikki Sinikumpu   +4 more
wiley   +1 more source

Thrombocytosis and the generation of platelet‐derived microparticles in the pathophysiology of sickle cell disease

British Journal of Haematology, EarlyView.
Thrombocytosis is associated with an increased production of platelet‐derived microparticles from activated platelets, which contribute to vaso‐occlusion in sickle cell disease by perpetuating the cycle of inflammation, procoagulant state and endothelial dysfunction.
Giao N. Lê, Anna Dillon, Owen P. Smith, Corrina McMahon   +3 more
wiley   +1 more source

Investigation of Chemokine Receptor CCR2V64Il Gene Polymorphism and Migraine without Aura in the Iranian Population

The Scientific World Journal, 2013
Background and Objectives. Migraine is a multifactorial common neurovascular disease with a polygenic inheritance. Inflammation plays an important part in migraine pathophysiology.
Alireza Zandifar, Maryam Taheriun, Samira Soleimani, Faraidoon Haghdoost, Mohamadhasan Tajaddini, Shaghayegh Haghjooy Javanmard   +5 more
doaj   +1 more source

Diagnosis and management of neutropenia in adults: Expert guidance

British Journal of Haematology, EarlyView.
Severe neutropenia can result from decreased production of neutrophil precursors in the bone marrow, as in the case of severe congenital neutropenia, or from increased utilization of neutrophils or their accelerated destruction as for drug‐induced neutropenia or autoimmune neutropenia. Severe chronic neutropenia increases susceptibility to bacterial or
Karl Welte, Cornelia Zeidler, Julia Skokowa, Sabine Mellor‐Heineke, Audrey Anna Bolyard, David Dale   +5 more
wiley   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Baseline Computed Tomography Coronary Angiography and Polygenic Risk Profiles in Adults With Type 2 Diabetes: A Cross‐Sectional Analysis From the VOLTAIRE Study

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To characterise baseline clinical, anatomical, and genetic cardiovascular risk profiles in participants enrolled in the VOLTAIRE (Evaluation of Polygenic Scores and CT Imaging in Risk Factor Modification in Patients with Type 2 Diabetes) study and examine concordance across these domains. Methods This analysis included adults with T2D who
Ruofei (Trophy) Chen, Adam J. Nelson, Sophia Zoungas, Robyn A. Clark, Sean Tan, Esther F. Davis, Melissa C. Southey, Andrew Lin, Giuseppe Di Giovanni, Masashi Fujino, Jennifer Wong, Robert L. O'Reilly, Jacqueline S. Dron, Stephen J. Nicholls   +13 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source