Phenotypic implications of a co-existent haemorrhagic and thrombotic genotype.

Blood Coagul Fibrinolysis

Department of Haematology, Roald Dahl Haemostasis and Thrombosis Centre, Royal Liverpool University Hospital, UK.

Published: April 2012

Inherited bleeding disorders such as Von Willebrands disease (VWD) present with varying bleeding tendencies in different individuals. There have been several attempts to identify the determinants for this varying severity of the haemorrhagic manifestations, especially in those with milder forms or type 1 VWD. Genetic mutations have been noted in persons with haemophilia to be contributing to a milder bleeding phenotype. This report describes the clinical implications of a similar mixed haemorrhagic-thrombotic genotype.

Download full-text PDF

Source
http://dx.doi.org/10.1097/MBC.0b013e32834fb523DOI Listing

Publication Analysis

Top Keywords

phenotypic implications
4
implications co-existent
4
co-existent haemorrhagic
4
haemorrhagic thrombotic
4
thrombotic genotype
4
genotype inherited
4
inherited bleeding
4
bleeding disorders
4
disorders von
4
von willebrands
4

Similar Publications

The Role of Innate Priming in Modifying Tumor-associated Macrophage Phenotype.

Front Biosci (Landmark Ed)

December 2024

Mackenzie Cancer Research Group, Department of Pathology and Biomedical Science, University of Otago Christchurch, 8011 Christchurch, Aotearoa New Zealand.

Tumor-associated macrophages (TAMs) are innate immune cells that exert far reaching influence over the tumor microenvironment (TME). Depending on cues within the local environment, TAMs may promote tumor angiogenesis, cancer cell invasion and immunosuppression, or, alternatively, inhibit tumor progression via neoantigen presentation, tumoricidal reactive oxygen species generation and pro-inflammatory cytokine secretion. Therefore, TAMs have a pivotal role in determining tumor progression and response to therapy.

View Article and Find Full Text PDF

Excess Ub-K48 Induces Neuronal Apoptosis in Alzheimer's Disease.

J Integr Neurosci

December 2024

Department of Human Anatomy, School of Basic Medical Sciences, Wannan Medical College, 241002 Wuhu, Anhui, China.

Background: K48-linked ubiquitin chain (Ub-K48) is a crucial ubiquitin chain implicated in protein degradation within the ubiquitin-proteasome system. However, the precise function and molecular mechanism underlying the role of Ub-K48 in the pathogenesis of Alzheimer's disease (AD) and neuronal cell abnormalities remain unclear. The objective of this study was to examine the function of K48 ubiquitination in the etiology of AD, and its associated mechanism of neuronal apoptosis.

View Article and Find Full Text PDF

Time-varying changes in whole-brain connectivity patterns, or connectome state dynamics, hold significant implications for cognition. However, connectome dynamics at fast (>1 Hz) timescales highly relevant to cognition are poorly understood due to the dominance of inherently slow fMRI in connectome studies. Here, we investigated the behavioral significance of rapid electrophysiological connectome dynamics using source-localized EEG connectomes during resting state ( = 926, 473 females).

View Article and Find Full Text PDF

Time-varying changes in whole-brain connectivity patterns, or connectome state dynamics, are a prominent feature of brain activity with broad functional implications. While infraslow (<0.1 Hz) connectome dynamics have been extensively studied with fMRI, rapid dynamics highly relevant for cognition are poorly understood.

View Article and Find Full Text PDF

Disseminated tumor cells in bone marrow as predictive classifiers for small cell lung cancer patients.

J Natl Cancer Cent

December 2024

Department of Medical Oncology, Beijing Chest Hospital, Capital Medical University, Beijing Tuberculosis and Thoracic Tumor Research Institute, Beijing, China.

Background: Small cell lung cancer (SCLC) is a highly aggressive disease characterized by early metastasis. Aneuploid CD31 disseminated tumor cells (DTCs) and CD31 disseminated tumor endothelial cells (DTECs) residing in the bone marrow are generally considered as the initiators of metastatic process. However, the clinical significance of DTCs and DTECs in SCLC remains poorly understood.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!