Results 81 to 90 of about 12,902 (159)

Integrating Next‐Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real‐World Data From Spanish Patients

Haemophilia, Volume 31, Issue 4, Page 734-742, July 2025.
ABSTRACT Introduction Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next‐generation sequencing (NGS) technology have enabled high‐throughput methods for molecular ICFD diagnosis.
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo‐Vizcaya, Cristina Marzo‐Alonso, Maria‐Fernanda López‐Fernández, Mariana Canaro, María Falcón‐Rodríguez, Ángela Cortes‐Vidal, Mario A. Rios de Paz, José Antonio Rodríguez‐García, Ana Moreto‐Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal   +17 more
wiley   +1 more source

Thrombotic microangiopathy and associated renal disorders [PDF]

, 2012
Thrombotic microangiopathy (TMA) is a pathological process involving thrombocytopenia, microangiopathic haemolytic anaemia and microvascular occlusion.
Barbour, T, Cohney, S, Hughes, P, Johnson, S   +3 more
core   +1 more source

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source

Reduced ADAMTS13 Activity in Correlation with Pathophysiology, Severity, and Outcome of COVID-19: A Retrospective Observational Study

International Journal of Infectious Diseases, 2022
Background: Low ADAMTS13 activity has been suggested to be an interplaying factor in the pathogenesis of COVID-19, considering that it is a thromboinflammatory disease with high risk of microthrombosis.
Wael Hafez, Mohamad Azzam Ziade, Arun Arya, Husam Saleh, Sara Ali, Srinivasa Raghu Rao, Osman Fdl Alla, Mohamed Ali, Mouhamad Al Zouhbi, Ahmed Abdelrahman   +9 more
doaj  

The effect of single nucleotide polymorphisms and mutations on congenital thrombotic thrombocytopenic purpura phenotype [PDF]

, 2017
Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disease with a reported incidence of 6 cases per million per year in the UK. It is characterised by episodes of microangiopathic haemolytic anaemia and thrombocytopenia, with the ...
Tate, H., Tate, H.
core  

Trends and Outcomes Following Percutaneous Coronary Intervention in Patients With Myeloproliferative Neoplasms: Insights From National Database

Catheterization and Cardiovascular Interventions, Volume 105, Issue 7, Page 1535-1544, June 1, 2025.
ABSTRACT Background Myeloproliferative neoplasms (MPN) are associated with an increased cardiovascular risk including acute coronary syndrome. However, there is a lack of comprehensive data regarding the rate of percutaneous coronary intervention (PCI), as well as the in‐hospital characteristics and outcomes for MPN patients.
Song Peng Ang, Jia Ee Chia, Chayakrit Krittanawong, Robert N. Piana, Kwan Lee, Chadi Ayoub, JR Exequiel Pineda, David Song, Debabrata Mukherjee   +8 more
wiley   +1 more source

ADAMTS13 gene deletion enhances plasma high-mobility group box1 elevation and neuroinflammation in brain ischemia-reperfusion injury [PDF]

, 2018
Highly adhesive glycoprotein von Willebrand factor (VWF) multimer induces platelet aggregation and leukocyte tethering or extravasation on the injured vascular wall, contributing to microvascular plugging and inflammation in brain ischemia-reperfusion. A
Akitake, Yoshiharu, Banno, Fumiaki, Fujioka, Masayuki, Fujiwara, Michihiro, Hayakawa, Kazuhide, Irie, Keiichi, Iwasaki, Katsunori, Kokame, Koichi, Mishima, Kenichi, Miyata, Toshiyuki, Muroi, Carl, Nakano, Takafumi, Nishio, Kenji, Okuchi, Kazuo, Sakamoto, Yuya, Siesjö, Bo, Yonekawa, Yasuhiro   +16 more
core  

Expert Statements on the Standard of Care in Critically Ill Adult Patients With Atypical Hemolytic Uremic Syndrome. [PDF]

, 2017
A typical hemolytic uremic syndrome (aHUS) presents similarly to thrombotic thrombocytopenic purpura (TTP) and other causes or conditions with thrombotic microangiopathy (TMA), such as disseminated intravascular coagulation or sepsis.
Abroug, F., Azoulay, E., Benoit, D., Eggimann, P., Galstian, G., Garnacho-Montero, J., Knoebl, P., Rusinova, K., Scully, M., von Bergwelt-Baildon, M., Wendon, J.   +10 more
core   +3 more sources

Síndrome Hemolítico Urémico Atípico en Cuidados Intensivos: Caso Clínico de un Adulto [PDF]

, 2016
info:eu-repo/semantics ...
Agudo, I, Azevedo, L, Bento, L, Cavaco, R, Germano, N, Souto-Moura, T   +5 more
core   +1 more source

A case of congenital TTP presenting with microganiopathy in adulthood [PDF]

, 2014
BACKGROUND: Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman Syndrome is a rare inherited deficiency of ADAMTS13. Unlike the more common acquired TTP which is characterized by an acquired inhibitor of ADAMTS13, patients
Andrea K Kew, Chris D Gallivan, David M Conrad   +2 more
core   +1 more source