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Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
As described in the section on AD. With suspicion for VaD, consider addition of the following: Lipid panel.Hemoglobin A1c.Antinuclear antibodies.Serum protein electrophoresis.Coagulation studies (younger patients).Antiphospholipid antibodies.Proteins C and S.Antithrombin III.Factor V Leiden mutation.
Long-Term Results in Patients Treated with Thrombolysis, Thoracic Inlet Decompression, and Subclavian Vein Stenting for Paget-Schroetter Syndrome
Published in Juan Carlos Jimenez, Samuel Eric Wilson, 50 Landmark Papers Every Vascular and Endovascular Surgeon Should Know, 2020
Juan Carlos Jimenez, Samuel Eric Wilson
Results In the veins treated with stents, 14 veins remained patent with a mean follow-up of 3–1/2 years. Two veins had early occlusions at 2 days; two veins occluded at 1 year; and seven veins occluded at 3 years. Of note, three of the patients including those who experienced early failures had factor V Leiden. Early failure was also demonstrated when clot extended into the brachial vein.
Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Deficiency of the same lysosomal acid lipase that is defective in Wolman disease is found in cholesteryl ester storage disease [26]. Patients with this disorder have a much more indolent disorder which may present with otherwise asymptomatic hepatomegaly or hepatosplenomegaly in childhood or adulthood [27–33]. Massive splenomegaly and a splenic abscess were reported in one patient [32]. Recurrent abdominal pain has occurred in some patients, and some have had recurrent epistaxis or intestinal bleeding. There may be evidence of cirrhosis on biopsy. Esophageal varices have occasionally been observed [31, 34, 35]. Acute or chronic hepatic failure has been reported in a few patients [35, 36]. Some are icteric. Clotting factors, including prothrombin and factor V, may be reduced. Some patients have hyperlipemia and elevation of the plasma concentration of cholesterol. Pulmonary hypertension has been reported as a complication, leading to death at 18 years [36]. Hyperlipoproteinemia type IIb is commonly encountered, and some patients have xanthelasma. There may be impressive premature atherosclerosis.
The association between thrombophilic genes alterations and poor ovarian response in infertile women: a retrospective case-control study
Published in Journal of Obstetrics and Gynaecology, 2022
Parnaz Borjian Boroujeni, Mohammad Reza Zamanian, Javad Roodgar Saffari, Anahita Mohseni Meybodi
As it was mentioned previously, specific mutation in the factor V gene causes factor V Leiden thrombophilia (G1691A). The FVL gene product plays a critical role in the coagulation system. The coagulation system is controlled by several proteins, including APC. APC normally inactivates coagulation factor V consequently slows down the clotting process and prevents clots from growing too large. However, in people with factor V Leiden thrombophilia, coagulation factor V cannot be inactivated normally by APC. As a result, the clotting process remains actively extended than usual, increasing the chance of developing abnormal blood clots (Dudding and Attia 2012). In 2005 Tempfer et al. studied 728 white women of Middle European origin and stated that the presence of at least one mutant allele of FVL was significantly associated with reduced age at natural menopause (p value= .03) (Tempfer et al. 2005). Their results revealed that genetically changed venous and arterial vascular support has long-lasting impacts on ovarian function.
Isolated ovarian vein thrombosis in COVID-19 infection
Published in Baylor University Medical Center Proceedings, 2021
Udhayvir Singh Grewal, Sreecharan Mavuram, Nancy Bai, Poornima Ramadas
Five days after discharge, she developed severe right-sided throbbing abdominal pain. Computed tomography (CT) of the abdomen and pelvis showed right-sided partial OVT (Figure 1). Ovarian Doppler ultrasound showed normal flow. She was a nonsmoker with no prior history of thromboembolism, even during seven previous pregnancies. Testing was normal for antiphospholipid antibodies with lupus anticoagulant, protein C, protein S, and antithrombin III levels. Factor V Leiden and prothrombin gene mutation tests were negative. Testing for JAK2 V617 mutation, JAK2 exon 12 mutation, and flow cytometry for paroxysmal nocturnal hemoglobinuria were also unremarkable. The patient’s unprovoked isolated gonadal vein thrombosis was assumed to have resulted from COVID-19–associated coagulopathy.
Protamine stimulates platelet aggregation in vitro with activation of the fibrinogen receptor and alpha-granule release, but impairs secondary activation via ADP and thrombin receptors
Published in Platelets, 2021
Mattias Törnudd, Sofia Ramström, John-Peder Escobar Kvitting, Joakim Alfredsson, Richard Pihl, Sören Berg
The discrepancy between the binding of annexin V, as a marker of procoagulant phosphatidylserine exposing state, and DilC1(5), as a marker of mitochondrial membrane disruption, indicated that annexin V may have interacted directly with protamine and we could demonstrate that annexin V binds directly to protamine. As shown in the Supplemental Figures, there was no direct binding between protamine and any of our other markers of platelet activation; thus, the binding to protamine was not via the fluorophore part of the marker in the other analyses. To further rule out a procoagulant effect of protamine we tested how protamine affects thrombin generation. We observed a slight concentration-dependent increase in lag time of thrombin generation in platelet-rich plasma when protamine was added. This supports previous findings of a decrease in thrombin generation by inhibition of coagulation Factor V in the presence of protamine [23]. Since Factor V exercises its role in coagulation at the platelet surface, it is in accordance with a mechanism where protamine binds to the platelet and blocks the access of other factors to the platelet surface. The absence of any other effect on thrombin generation shows that protamine lacks a significant activating effect on pro-coagulative structure changes in platelets.