Results 91 to 100 of about 13,808 (210)

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
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Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report [PDF]

, 2015
INTRODUCTION: Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction.
Abdulkadir Unsal, Cuneyt Akgol, David Kavanagh, Ekrem Kara, Elbis Ahbap, Mustafa Sevinc, Tamer Sakaci, Taner Basturk, Tim HJ Goodship, Tuncay Sahutoglu, Vicky Brocklebank, Yener Koc   +11 more
core   +1 more source

Presentation of HIV‐Associated Thrombotic Microangiopathy and Response to Therapeutic Plasma Exchange: A 10‐year Retrospective Single‐Centre Cohort Study

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background HIV is a significant aetiological factor in thrombotic microangiopathy (TMA) in regions of high seroprevalence, but description of HIV‐associated TMA (HIV‐TMA) remains limited to small case series. We sought to describe the presentation, complications of TPE, and mortality and renal outcomes of HIV‐TMA.
Malcolm Davies, Sheetal Chiba, Sayuri Harishun, Chandni Dayal, Zaheera Cassimjee   +4 more
wiley   +1 more source

Determination of ADAMTS13 and Its Clinical Significance for ADAMTS13 Supplementation Therapy to Improve the Survival of Patients with Decompensated Liver Cirrhosis

International Journal of Hepatology, 2011
The liver plays a central role in hemostasis by synthesizing clotting factors, coagulation inhibitors, and fibrinolytic proteins. Liver cirrhosis (LC), therefore, impacts on both primary and secondary hemostatic mechanisms.
Masahito Uemura, Yoshihiro Fujimura, Saiho Ko, Masanori Matsumoto, Yoshiyuki Nakajima, Hiroshi Fukui   +5 more
doaj   +1 more source

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, Marc O. Warmoes, Maria Lorena Cordero‐Maldonado, Ursula Heins‐Marroquin, Carole L. Linster   +6 more
wiley   +1 more source

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis [PDF]

, 2012
Shwachman-Diamond Syndrome (SDS; On-line Mendelian Inheritance in Man database number 260400) is an autosomal recessive disorder caused by mutations in the SBDS gene in at least 90% of cases (Boocock et al, 2003).
Lo Curto F, Mare L, Marletta C, Maserati E, Montalbano G, Pasquali F, Pressato B, Valli R   +7 more
core   +1 more source

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.
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Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

Heyde Syndrome: A Literature Review

Health Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims Heyde syndrome, a triad of anemia from gastrointestinal (GI) bleeding, aortic valve stenosis, and acquired von Willebrand syndrome, primarily affects individuals over 65. Management requires a multidisciplinary approach, including medical therapy, endoscopic intervention, and valve replacement.
Yashika Gupta, Abdul Rehman Shahid Khan, Viraj Shetty, Yeshwini Murali Krishna, Ayisha Maqsood, Muhammad Husnain Ahmad, Masab Ali, Betsy Samuel, Ali Gohar, Abdul Waheed, Muhammad Bilal Afzal, Rehan Naseer Ahmad, Saqib Maqsood   +12 more
wiley   +1 more source

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source