The primary antiphospholipid syndrome and protein S deficiency are known hypercoagulable states predisposing to ischemic strokes. The pathogenesis of those hypercoagulable states has been independently studied and, recently, interaction between them has been proposed. A 48-year-old Hispanic man had generalized seizures 5 months after the acute onset of a left middle cerebral artery infarct. He had a strong family history of strokes. After evaluation for cardiologic, rheumatologic, hematologic and metabolic etiologies for stroke, anticardiolipin antibodies and protein S deficiency were detected. Cerebral angiography was normal. First degree relatives were evaluated and screened for these conditions. Lupus anticoagulant was detected in a sister who reported a transient hemisensory deficit. None of the relatives studied had clinical or laboratory criteria for collagen vascular diseases. Coexistence of the primary antiphospholipid syndrome and protein S deficiency, two known prothrombotic states, has rarely been reported in Hispanic adults in association with ischemic stroke.

Download full-text PDF

Source
http://dx.doi.org/10.1097/00007611-199803000-00020DOI Listing

Publication Analysis

Top Keywords

protein deficiency
16
primary antiphospholipid
12
antiphospholipid syndrome
12
syndrome protein
12
coexistence primary
8
hispanic man
8
ischemic stroke
8
hypercoagulable states
8
protein
4
deficiency
4

Similar Publications

Muscarinic acetylcholine receptor 3 localized to primary endothelial cilia regulates blood pressure and cognition.

Sci Rep

January 2025

Department of Pharmacology and Experimental Therapeutics; MS 1015, College of Pharmacy and Pharmaceutical Sciences, The University of Toledo, Health Education Building; Room 282E, 3000 Arlington Ave, Toledo, OH, 43614, USA.

We previously demonstrated that the inability of primary endothelial cilia to sense fluid shear stress can lead to nitric oxide (NO) deficiency and cause hypertension (HTN). Decreased biosynthesis of NO contributes to cerebral amyloid angiopathy in Alzheimer's disease (AD) patients through increased deposition of amyloid beta (Aβ). However, the molecular mechanisms underlying the pathogenesis of HTN and AD are incompletely understood.

View Article and Find Full Text PDF

Besides the important pathogenic mechanisms of melanoma, including BRAF-driven and immunosuppressive microenvironment, genomic instability and abnormal DNA double-strand breaks (DSB) repair are significant driving forces for its occurrence and development. This suggests investigating novel therapeutic strategies from the synthetic lethality perspective. Poly (ADP-ribose) polymerase 4 (PARP4) is known to be a member of the PARP protein family.

View Article and Find Full Text PDF

GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.

Blood Cancer J

January 2025

Université de Toulouse 3 Paul Sabatier, Cancer Research Centre of Toulouse, UMR1037 Inserm, UMR5077 CNRS, Equipe Labellisée Ligue Nationale Contre le Cancer 2023, Equipe labélisée Institut Carnot Opale, 31037, Toulouse, France.

GATA2 germline mutations lead to a syndrome characterized by immunodeficiency, vascular disorders and myeloid malignancies. To elucidate how these mutations affect hematopoietic homeostasis, we created a knock-in mouse model expressing the recurrent Gata2 R396Q missense mutation. Employing molecular and functional approaches, we investigated the mutation's impact on hematopoiesis, revealing significant alterations in the hematopoietic stem and progenitor (HSPC) compartment in young age.

View Article and Find Full Text PDF

Objectives: Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy associated with severe deficiency in ADAMTS13. ADAMTS13 deficiency may be secondary to absent or dysfunctional protein production due to mutations in the ADAMTS13 gene (congenital TTP) or autoantibody-mediated clearance and/or inhibition (immune-mediated TTP). This autoimmunity may, albeit rarely, occur secondary to certain medications (eg, ticlopidine).

View Article and Find Full Text PDF

I'm Not Dead Yet (INDY) functions as a transporter for citrate, a key metabolite in the citric acid cycle, across the plasma membrane. Partial deficiency of INDY extends lifespan, akin to the effects of caloric restriction. In this work, we use cryo-electron microscopy to determine structures of INDY in the presence and absence of citrate and in complex with the well-known inhibitor 4,4'-diisothiocyano-2,2'-disulfonic acid stilbene (DIDS) at resolutions ranging from 2.

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!