2,040 results match your criteria Protein C Deficiency


Genetic risk factors for venous thromboembolism.

Expert Rev Hematol 2020 Jul 30. Epub 2020 Jul 30.

Center for Thrombosis and Haemostasis, Lund university, Skåne University Hospital , Malmö, Sweden.

Introduction: Venous thromboembolism (VTE) is a complex disease that aggregates in families. Both acquired and genetic risk factors are important. Proper recognition and management of high-risk individuals are important. Read More

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http://dx.doi.org/10.1080/17474086.2020.1804354DOI Listing

Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.

Thromb Haemost 2020 Jul 27. Epub 2020 Jul 27.

Hématologie Biologique, AP-HP Hôpital Européen G Pompidou, QUP Centre Université de Paris, Paris, France.

Inherited protein C (PC) deficiency caused by mutations in the gene is a well-known risk factor for venous thromboembolism. Few studies have investigated the relationship between genotype and plasma or clinical phenotypes. We addressed this issue in a large retrospective cohort of 1,115 heterozygous carriers of 226 pathogenic or likely pathogenic mutations. Read More

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http://dx.doi.org/10.1055/s-0040-1714100DOI Listing

Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review.

BMC Ophthalmol 2020 Jul 13;20(1):282. Epub 2020 Jul 13.

Eye research center, Farabi Eye Hospital, Tehran University of Medical Sciences, Qazvin Square, Tehran, IR, Iran.

Background: Homozygous protein C (PC) deficiency is a potentially fatal disease with ocular blinding presentation or sequela.

Case Presentation: A 5 month-old boy was presented for evaluation of leukocoria. He had a history of frequent bruises and PC deficiency, treated with warfarin. Read More

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http://dx.doi.org/10.1186/s12886-020-01424-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358193PMC

Cardioembolic stroke in a young male with cor triatriatum sinister: a case report.

Eur Heart J Case Rep 2020 Jun 3;4(3):1-6. Epub 2020 May 3.

Department of Cardiology, University of Maryland Medical Center, 22 South Greene Street, Baltimore, MD 21201, USA.

Background: Cor triatriatum sinister (CTS) is a rare congenital cardiac anomaly defined by a fibromuscular membrane which bisects the left atrium. Cor triatriatum sinister has been associated with cardioembolic stroke through mechanisms including stagnation of blood flow within the left atrium, an association with atrial fibrillation (AF), and/or an accompanying atrial septal defect (ASD) or patent foramen ovale. We describe a case highlighting the role that CTS may play in cardioembolic stroke, provide high-quality computed tomography angiography and two- and three-dimensional echocardiography of the CTS membrane, and outline management strategies for this uncommon clinical scenario. Read More

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http://dx.doi.org/10.1093/ehjcr/ytaa096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7319846PMC

PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population.

Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620935206

Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Protein C (PC) deficiency, caused by mutations of the gene, is a common inherited risk factor of thromboembolism (TE) among Thai people. This study aimed to investigate the association of 3 single nucleotide polymorphisms (SNPs; -1654 C/T, -1641 A/G, -1461A/T) at the promoter region with PC activity and the risk of developing TE. A total of 216 patient s with TE, diagnosed at aged 0 to 20 years, and 102 healthy adults were enrolled. Read More

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http://dx.doi.org/10.1177/1076029620935206DOI Listing

Protein C deficiency presenting as an acute infero-posterior ST elevation myocardial infarction in a young man; A case report and focused literature review.

Thromb Res 2020 08 20;192:109-112. Epub 2020 May 20.

Cardiology Unit, Department of Medicine, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.05.026DOI Listing

What could be the most advantageous therapeutic approach to avoid both arterial and venous thrombosis in hyperhomocysteinemia?

Curr Cardiol Rev 2020 May 10. Epub 2020 May 10.

Department of Internal Medicine,"L. Vanvitelli" Campania University-Naples. Italy.

Dear Editor, Thrombophilia is the tendency to form blood clots both in arteries and veins [1]. Inherited and acquired high plasma homocysteine (HHcy) levels are judged as thrombophilic agents because can induce both arterial and venous thrombosis [2-5]. But, the association of hHHcy with Venous Thromboembolism (VTE) has been studied less extensively than that with arterial thrombosis. Read More

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http://dx.doi.org/10.2174/1573403X16666200511085701DOI Listing

Protein C Deficiency as a Risk Factor for Stroke in Young Adults: A Review.

Cureus 2020 Mar 30;12(3):e7472. Epub 2020 Mar 30.

Neurology, Baylor University Medical Center, Dallas, USA.

Protein C (PC) is a 62-kD vitamin K dependent glycoprotein produced by the liver as a zymogen and is activated by binding to the thrombin-thrombomodulin complex, with protein S (PS) acting as a cofactor. Among its various functions, PC acts as a naturally occurring anticoagulant and its deficiency, either homozygous or heterozygous, predisposes the individual to a state of thrombosis, particularly venous thromboembolism, and mainfests as myocardial infarction (MI), deep venous thrombosis, pulmonary embolism, or stroke. This review discusses the pathophysiology of the anticoagulatory effect of PC, mode of inheritance of its deficiency, the arterial and venous involvement in patients with stroke, and its risk factors. Read More

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http://dx.doi.org/10.7759/cureus.7472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7188017PMC

Thrombophilia prevalence in patients seeking laparoscopic sleeve gastrectomy: extended chemoprophylaxis may decrease portal vein thrombosis rate.

Surg Obes Relat Dis 2020 Jul 18;16(7):839-843. Epub 2020 Mar 18.

Department of Surgery, NYU Langone Medical Center, Bellevue Hospital Center, New York, New York.

Background: Portomesenteric vein thrombosis (PMVT) may occur after laparoscopic sleeve gastrectomy (LSG). Previous studies have shown that PMVT patients may have undiagnosed thrombophilia. We recently changed our practice to check thrombophilia panel in every LSG patient preoperatively. Read More

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http://dx.doi.org/10.1016/j.soard.2020.03.008DOI Listing

Laboratory Limitations of Excluding Hereditary Protein C Deficiency by Chromogenic Assay: Discrepancies of Phenotype and Genotype.

Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620912028

Centrum für Blutgerinnungsstörungen und Transfusionsmedizin, Bonn, Germany.

Protein C (PC) deficiency is associated with an increased risk for venous thromboembolism (VTE). In daily practice, exclusion of a hereditary PC deficiency is often based on a single determination of PC activity, by either clotting time-based or mostly chromogenic assay. However, diagnosis of hereditary PC deficiency is challenging due to several laboratory and clinical limitations. Read More

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http://dx.doi.org/10.1177/1076029620912028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288809PMC

Congenital protein C deficiency and thrombosis in a dog.

J Vet Intern Med 2020 May 11;34(3):1300-1303. Epub 2020 Apr 11.

Viapath, London, UK.

Congenital protein C deficiency is an important cause of thrombosis in humans but is not described in dogs. A 4-year-old Hungarian Vizsla was presented for investigation of acute onset of ascites. Computed tomography of the chest and abdomen and echocardiography confirmed a large thrombus within the right ventricle. Read More

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http://dx.doi.org/10.1111/jvim.15766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255666PMC

Chronic Non-cirrhotic Portal Vein Thrombosis with Cavernous Transformation Secondary to Protein C and S Deficiency.

Cureus 2020 Feb 29;12(2):e7142. Epub 2020 Feb 29.

Internal Medicine, Dow University of Health Sciences, Karachi, PAK.

Hereditary thrombophilia (HT), including the mutation of factor V gene and the deficiency of proteins C, protein S, or antithrombin, is a risk factor for portal vein thrombosis (PVT). PVT in acute cases is usually asymptomatic, whereas chronic cases mostly present as variceal bleeding and splenomegaly. However, cavernous transformation of the portal vein secondary to a long-standing PVT is very rare. Read More

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http://dx.doi.org/10.7759/cureus.7142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105261PMC
February 2020

Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC.

Thromb Res 2020 04 10;188:115-118. Epub 2020 Mar 10.

Department of Clinical Laboratory Science, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan; Department of Hematology, Kanazawa University Hospital, Kanazawa, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.03.009DOI Listing

A Case of Ischemic Stroke With Congenital Protein C Deficiency and Carotid Web Successfully Treated by Anticoagulant and Carotid Stenting.

Front Neurol 2020 18;11:99. Epub 2020 Feb 18.

Department of Neurosurgery, Stroke Center, Kokura Memorial Hospital, Fukuoka, Japan.

A rare case of thromboembolic cerebral infarction due to carotid web in a patient with congenital protein C deficiency is reported. A patient in her 40's with left-side hemiparesis was transferred to our hospital under continuous intravenous injection of heparin. Magnetic resonance angiography demonstrated occlusion of the right middle cerebral artery (MCA). Read More

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http://dx.doi.org/10.3389/fneur.2020.00099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040358PMC
February 2020

An gene mutation causes childhood interstitial lung disease: first report in the Arab region.

JRSM Open 2020 Feb 10;11(2):2054270419894821. Epub 2020 Feb 10.

Pathology Department, King Fahad Medical City, Saudi Arabia.

Background: Surfactant protein C dysfunction is one of the causes of childhood interstitial lung disease but has not previously been reported in Arabian countries.

Case Presentation: A six-year-old girl had presented at the age of eight months old with bronchiolitis followed by a persistent cough, dyspnea and hypoxaemia. She was found to have gastroesophageal reflux disease, but her symptoms did not resolve despite her therapy being optimised. Read More

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http://dx.doi.org/10.1177/2054270419894821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011330PMC
February 2020

Cerebral Infarction Followed by Myocardial Infarction in a Young Adult with Protein C and S Deficiency.

Cureus 2020 Jan 15;12(1):e6665. Epub 2020 Jan 15.

Internal Medicine, Dow University of Health Sciences, Karachi, PAK.

Protein C (PC) and protein S (PS) are natural anticoagulants that protect the body against thrombosis, and their deficiency, either inherited or acquired, renders the body to a hypercoagulable state. This leads to venous thromboembolism manifesting as thrombosis, pulmonary embolism and superficial thrombophlebitis among other causes. The involvement of arteries is rare and has been explained by only a few studies. Read More

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http://dx.doi.org/10.7759/cureus.6665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021239PMC
January 2020

Recommendations for clinical laboratory testing for protein C deficiency, for the subcommittee on plasma coagulation inhibitors of the ISTH.

J Thromb Haemost 2020 02;18(2):271-277

Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.

Inherited protein C (PC) deficiency increases risk of venous thromboembolism (VTE) by 5 to 10-fold in thrombosis-prone families; however, heterozygous PC deficiency alone does not determine that a subject has thrombophilia. Protein C deficient subjects, who lack additional inherited risk factors such as factor V Leiden or have no major acquired risk factors, may not suffer from VTE. In addition, PC deficiency may be acquired, often due to vitamin K antagonist treatment or liver disease. Read More

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http://dx.doi.org/10.1111/jth.14667DOI Listing
February 2020

Mesenteric Ischemia due to Thrombosis Involving the Aorta, Celiac Artery, and Superior Mesenteric Artery in a Young Female with Protein C Deficiency.

Cureus 2019 Nov 14;11(11):e6151. Epub 2019 Nov 14.

Surgical Unit II, Benazir Bhutto Hospital, Rawalpindi Medical University, Rawalpindi, PAK.

An arterial thrombus affecting the descending aorta, celiac artery, and superior mesenteric artery at the same time, resulting in mesenteric ischemia and splenic infarction, is a very rare phenomenon. We report a case of a 35-year-old, unmarried female, gravida 0 para 0, who presented with abdominal pain, vomiting, and constipation for two days. Computed tomography (CT) scan showed thrombi in the descending aorta to the celiac axis and superior mesenteric artery with splenic infarction, bowel ischemia, hepatic portal venous air, and uterine fibroid. Read More

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http://dx.doi.org/10.7759/cureus.6151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913912PMC
November 2019

Colonic Perforation in a Term Newborn with Hereditary Protein C Deficiency.

Indian Pediatr 2019 12;56(12):1057-1059

Department of Pediatrics, Kitano Hospital, Tazuke Kofukai Medical Research Institute, Osaka, Japan.

We describe a term infant who experienced recurrent apnea associated with intracranial hemorrhage and later, developed colonic perforation. Plasma protein C activity was below detectable limits and a heterozygous PROC mutation was identified. Neonatal colonic perforation is rare, and this case report highlights the importance of considering congenital Protein C deficiency. Read More

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December 2019

Pregnancy-related thrombosis risk in patients with protein C deficiency and comparison with pregnant women with heterozygous factor V Leiden mutation.

Blood Coagul Fibrinolysis 2020 Jan;31(1):55-59

Clinical Haemostasis Unit, Louis Pradel Cardiological University Hospital.

: The risk of pregnancy-related venous thromboembolism is high in patients with inherited thrombophilia. The aim of this study was to compare the risk of pregnancy related-venous thromboembolism of women with protein C (PC) deficiency to patients with heterozygous factor V Leiden mutation. 145 consecutive pregnant women with confirmed PC deficiency or heterozygous factor V Leiden mutation were prospectively enrolled in the study. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000878DOI Listing
January 2020

Protein C deficiency; PROC gene variants in a Danish population.

Thromb Res 2020 01 30;185:153-159. Epub 2019 Nov 30.

Department of Clinical Biochemistry, Aarhus University Hospital, Denmark.

Introduction: Protein C deficiency is a heritable thrombophilia caused by numerous different genetic alterations in the protein C (PROC) gene. We aimed to identify variants causing protein C deficiency in a Danish population.

Material And Methods: Sanger sequencing of the PROC gene was performed in 20 probands and 26 relatives. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.11.027DOI Listing
January 2020
4 Reads

Arterial Thrombus in a Protein C Deficient Patient.

Cureus 2019 Nov 12;11(11):e6130. Epub 2019 Nov 12.

Cardiology, Lebanese Geitaoui Hospital, Beirut, LBN.

Protein C is a Vitamin K derivative that plays an essential role in anticoagulation. Protein C deactivates clotting factors Va and VIIIa; therefore, a deficiency in this protein leads to over expression and activation of these factors and essentially a hypercoagulable, prothrombotic state. Although studies have shown that the cardinal manifestation of protein C deficiency is venous thromboembolism, we present a case of a patient in his third decade with a myocardial infarction on a background of protein C deficiency and minimal cardiovascular risk factors. Read More

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http://dx.doi.org/10.7759/cureus.6130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850748PMC
November 2019

Cavernous Transformation of Portal Vein in the Setting of Protein C and Anti-thrombin III Deficiency.

Cureus 2019 Sep 27;11(9):e5779. Epub 2019 Sep 27.

Pediatrics, Dow University of Health Sciences, Karachi, PAK.

Cavernous transformation of the portal vein (CTPV), also known as portal cavernoma, is a sequelae of thrombosis in the portal vein causing its occlusion and portal hypertension. The etiology, however, remains unknown. Gastroesophageal variceal bleeding, splenomegaly, portosystemic collaterals, and ultimate hematologic abnormalities are among the prominent clinical features. Read More

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http://dx.doi.org/10.7759/cureus.5779DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825486PMC
September 2019

Thrombosis and hemostasis health in pregnancy: Registries from the International Society on Thrombosis and Haemostasis.

Res Pract Thromb Haemost 2019 Oct 1;3(4):607-614. Epub 2019 Aug 1.

Katharine Dormandy Haemophilia and Thrombosis Centre and Department of Obstetrics and Gynaecology The Royal Free NHS Foundation hospital London UK.

Online patient registries are used to collect data on clinical conditions with rare occurrence or unclear diagnostic and management practices. The success of these registries depends on clear definition of goals, correct identification of patient population/inclusion criteria, availability of appropriate setup and maintenance tools, and the quality of dissemination. The Scientific and Standardization Committee (SSC) for Women's Health Issues in Thrombosis and Hemostasis, one of 20 committees of the International Society on Thrombosis and Haemostasis (ISTH) has developed 6 registries for women's bleeding and thrombotic conditions over the past 2 years and are currently in various stages of progress. Read More

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http://dx.doi.org/10.1002/rth2.12243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6782017PMC
October 2019
6 Reads

Is This Working "Well" for Pediatrics? The Diagnosis and Treatment of Thromboembolic Disease in a Patient With Protein C Deficiency.

Clin Pediatr (Phila) 2020 01 11;59(1):95-98. Epub 2019 Oct 11.

Ochsner Children's Hospital, New Orleans, LA, USA.

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http://dx.doi.org/10.1177/0009922819881208DOI Listing
January 2020
1 Read

Genotypic and phenotypic character of Chinese neonates with congenital protein C deficiency: a case report and literature review.

Thromb J 2019 2;17:19. Epub 2019 Oct 2.

3Qilu Hospital of Shandong University, No107, Cultural west Road, Lixia District, Jinan, Shandong China.

Background: Our objective was to study the phenotype of and molecular genetic mechanisms underlying congenital protein C (PC) deficiency in Chinese neonates. We report the case of a neonate who presented 4 h after birth with purpura fulminans of the skin and thrombosis in the kidney. We also carried out a through literature review to study the genotype and phenotype, relevance, diagnosis, management, and prognosis of neonates with congenital PC deficiency in China. Read More

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http://dx.doi.org/10.1186/s12959-019-0208-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774216PMC
October 2019
1 Read

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis.

J Am Heart Assoc 2019 10 24;8(19):e012877. Epub 2019 Sep 24.

Department of Medicine Perelman School of Medicine University of Pennsylvania Philadelphia PA.

Background Inherited thrombophilias are well-established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain. We aimed to evaluate the association between inherited thrombophilia (factor V Leiden, prothrombin G20210A mutation, protein C deficiency, protein S deficiency, and antithrombin deficiency) and risk of arterial ischemic stroke in adults. Methods and Results We searched PubMed, EMBASE, and Cochrane Library Databases from inception to December 31, 2018. Read More

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http://dx.doi.org/10.1161/JAHA.119.012877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806047PMC
October 2019
6 Reads
2.882 Impact Factor

Thrombophilic risk factors in hemodialysis: Association with early vascular access occlusion and patient survival in long-term follow-up.

PLoS One 2019 20;14(9):e0222102. Epub 2019 Sep 20.

Department of Nephrology and Rheumatology, Georg-August University, Goettingen, Germany.

Objective: Thrombophilic risk factors (TRFs) occur rather frequently in hemodialysis (HD) patients. However, little is known about their significance in HD patients, besides their potential impact on arteriovenous (AV) access failure, with varying results. We examined the effects of a wide variety of TRFs on both early AV fistula occlusion and survival among HD patients in long-term follow-up. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0222102PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754127PMC
March 2020
3 Reads

Infant with protein C deficiency and stroke in the setting of iron deficiency anemia.

Clin Case Rep 2019 Sep 23;7(9):1655-1659. Epub 2019 Jul 23.

McGovern Medical School Houston Texas.

We report an 18-month-old infant with ischemic stroke, neurocognitive impairment, and psychomotor retardation in the setting of severe iron deficiency anemia. Although an uncommon outcome in anemic children, stroke is important to consider as a cause for developmental delay in children with iron deficiency anemia. Read More

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http://dx.doi.org/10.1002/ccr3.2271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745445PMC
September 2019
1 Read

Early fasciotomies and plastic-surgical reconstruction may enhance preservation of functional extremity length in purpura fulminans.

Clin Hemorheol Microcirc 2019 Sep 13. Epub 2019 Sep 13.

Department of Plastic, Hand, and Reconstructive Surgery, University Hospital Regensburg, Regensburg, Germany.

Background: Purpura fulminans (PF) is a distinct form of rare meningococcal septicaemia mostly in childhood which is characterized by high lethality, extensive necroses and mutilations of extremities. Other ethiologies are idiopathic forms or purpura neonatorum, which is marked by deficiency of Protein-C. PF is caused by micro-embolism of the vascular system, followed by quickly spreading necroses of skin and different organs. Read More

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http://dx.doi.org/10.3233/CH-190588DOI Listing
September 2019
3 Reads

Hereditary protein C deficiency caused by novel compound heterozygous mutants in a Chinese pedigree: A case report.

Transfus Apher Sci 2019 Oct 5;58(5):685-687. Epub 2019 Sep 5.

Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.

Purpura fulminans (PF) is a neonatal presentation of homozygous or compound heterozygous protein C (PC) deficiency; infants who are diagnosed with it are determined to have a major defect in coagulation regulation which is associated with undetectable levels of PC. We report a pedigree who suffered from the hereditary PC deficiency with compound heterozygous mutants; genetic analysis revealed compound heterozygous mutations of 262 G > T(Asp88Tyr) and 400 + 5G > A that were identified in the proband; moreover, Asp88Tyr and 400 + 5G > A were also detected in the father and the mother, respectively. A bioinformatics analysis revealed 262 G > T is probably damaging, and structural analysis indicated a possible mechanism for the functional impairment of PC in this pedigree. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14730502193017
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http://dx.doi.org/10.1016/j.transci.2019.08.017DOI Listing
October 2019
2 Reads

Purpura in the Emergency Room: Two Cases of Sepsis with Cutaneous Manifestations.

Cureus 2019 Jun 23;11(6):e4976. Epub 2019 Jun 23.

Emergency Medicine, AdventHealth East Orlando, Orlando, USA.

Purpura fulminans is a seldom seen manifestation of sepsis in the emergency department (ED). The morbidity and mortality of sepsis have been widely studied and reported; the hallmark of treatment is early recognition and intervention. In extreme cases, sepsis can cause widespread activation of the coagulation cascade further complicating the treatment and recovery from the causative pathogen. Read More

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http://dx.doi.org/10.7759/cureus.4976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706265PMC
June 2019
1 Read

Acute Bioprosthetic Mitral Valve Thrombosis: An Unfortunate Collision of Prothrombotic Risk Factors.

Heart Surg Forum 2019 07 25;22(4):E298-E300. Epub 2019 Jul 25.

Department of Cardiovascular and Thoracic Surgery, Lenox Hill Hospital/Northwell Health, New York, New York, USA.

Subclinical and clinical thrombosis of bioprosthetic cardiac valves is more common than has been previously recognized. We present a unique case of acute thrombosis of a bioprosthetic mitral valve in a 40-year-old female patient undergoing hormonal stimulation as part of in vitro fertilization therapy, who also had concomitant protein C deficiency that was undiagnosed at the time. To the best of our knowledge, this is the first reported case of acute bioprosthetic valve thrombosis in this complex thrombophilic milieu, and suggests the need for increased screening for prothrombotic risk factors in female patients with bioprosthetic valves before they commence gonadotropin stimulation therapy. Read More

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http://dx.doi.org/10.1532/hsf.2389DOI Listing
July 2019
4 Reads

Congenital protein C deficiency causing major arterial thrombosis in a neonate.

BMJ Case Rep 2019 Jul 27;12(7). Epub 2019 Jul 27.

Pediatrics, Calcutta Medical Research Institute, Kolkata, West Bengal, India.

A 9-day-old female baby presented with complaints of progressively worsening respiratory distress and lethargy. The parents were first cousins with history of multiple fetal losses in previous pregnancies. On examination, the baby was noted to be tachypnoeic, tachycardic with poor peripheral perfusion of the lower extremities. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2019-23003
Publisher Site
http://dx.doi.org/10.1136/bcr-2019-230034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663237PMC
July 2019
2 Reads

Successful endovascular recanalization of massive cerebral venous sinus thrombosis in a patient with tuberous sclerosis and protein S deficiency: a case report.

Oxf Med Case Reports 2019 Jul 12;2019(7):omz060. Epub 2019 Jul 12.

Department of Neurology, Nippon Medical School, Tokyo, Japan.

Here, we report the case of a 27-year-old woman with tuberous sclerosis complex who underwent successful endovascular intervention for cerebral venous thrombosis at the superior sagittal sinus. She had protein S deficiency and a long-term history of anemia caused by menorrhagia from uterine fibroids, possibly leading to a hypercoagulable state. Cerebral venous sinus thrombosis accounts for ~0. Read More

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http://dx.doi.org/10.1093/omcr/omz060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624995PMC
July 2019
6 Reads

Acute Myocardial Infarction as an Initial Presentation of Protein C and Protein S Deficiency Followed by Dilated Cardiomyopathy in a Young Male.

Cureus 2019 Apr 17;11(4):e4492. Epub 2019 Apr 17.

Surgery, Dow University of Health Sciences, Karachi, PAK.

Protein C and protein S are vitamin K dependent anti-coagulant proteins required for the inhibition of activated protein V and VIII. In an inherited thrombophilia, hypercoagulability caused by the deficiency of protein C and protein S predisposes an individual to increased risk of thromboembolism (TE) that could herald as a venous thromboemboilsm (VTE) in the leg, pulmonary embolism (PE), stroke, or Budd-Chiari syndrome. However, very rarely does inherited thrombophilia cause coronary artery thrombosis leading to the development of myocardial infarction (MI). Read More

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http://dx.doi.org/10.7759/cureus.4492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581329PMC
April 2019
8 Reads

Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.

Thromb Haemost 2019 Sep 29;119(9):1409-1418. Epub 2019 Jun 29.

Grupo de Investigación en Hemostasia, Trombosis, Arteriosclerosis y Biología Vascular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Hospital Universitario y Politécnico La Fe, Valencia, Spain.

Presently, no data on the molecular basis of hereditary protein C (PC) deficiency in Spain is available. We analyzed the PC gene () in 109 patients with symptomatic PC deficiency and in 342 relatives by sequencing the 9 exons and their flanking intron regions. In 93 probands, we found 58 different mutations (26 novel). Read More

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http://dx.doi.org/10.1055/s-0039-1692440DOI Listing
September 2019
8 Reads

Aortic Mural Thrombus Associated with Congenital Protein C Deficiency in an Elderly Patient.

J Atheroscler Thromb 2020 Jan 15;27(1):100-103. Epub 2019 May 15.

Department of Laboratory Medicine, Uji-Tokushukai Medical Center.

Thrombophilia increases the risk of venous thrombosis, but is rarely responsible for aortic thrombosis. Aortic mural thrombus (AMT) may be associated with a protein C deficiency. However, it is necessary to determine whether the protein C deficiency is congenital/hereditary or secondary/acquired (consumption of protein C during the process of thrombus formation). Read More

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https://www.jstage.jst.go.jp/article/jat/advpub/0/advpub_488
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http://dx.doi.org/10.5551/jat.48819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976720PMC
January 2020
27 Reads

Searching for genetic variants associated with thrombophilia.

Cas Lek Cesk 2019 ;158(1):28-32

Thrombotic states are inherited or acquired predisposition for thrombosis in the human vascular system. Nowadays Leiden mutation and mutation in prothrombin G20210A contributing to congenital thrombophilia are routinely tested. These mutations have a high prevalence in the population. Read More

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June 2019
8 Reads

Clinical factors associated with pregnancy outcome in women with recurrent pregnancy loss.

Gynecol Endocrinol 2019 Oct 23;35(10):913-918. Epub 2019 Apr 23.

Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan.

The aim of this prospective cohort study was to evaluate clinical factors associated with pregnancy outcomes in women with recurrent pregnancy loss (RPL). Women with a history of two or more pregnancy losses underwent workups for clinical factors of RPL and their pregnancies were followed-up with informed consent. Two hundred eleven (81. Read More

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http://dx.doi.org/10.1080/09513590.2019.1604657DOI Listing
October 2019
9 Reads

Hemostatic assessment of combined anticoagulant therapy using warfarin and prothrombin complex concentrates in a case of severe protein C deficiency.

Int J Hematol 2019 Jun 8;109(6):650-656. Epub 2019 Apr 8.

Department of Pediatrics, Nara Medical University, 840 Shijo-cho, Kashihara, Nara, 634-8522, Japan.

Patients with severe congenital protein (P)C deficiency require long-term anticoagulant management. Recombinant PC concentrates for prophylactic use are not available in Japan; prothrombin complex concentrates (PCC), containing factors (F)II, VII, IX, X, and PC (PPSB-HT), have been used 'off-label' in a few patients. We investigated the combined use of prophylactic PCC and Warfarin (VKA; PT-INR 2. Read More

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http://link.springer.com/10.1007/s12185-019-02645-7
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http://dx.doi.org/10.1007/s12185-019-02645-7DOI Listing
June 2019
22 Reads

Natural anticoagulant deficiencies in Thais: A population-based study.

Thromb Res 2019 Jun 21;178:7-11. Epub 2019 Mar 21.

Research Collaborations in Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Division of Hematology, Department of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Introduction: In contrast to Caucasians, hereditary anticoagulant deficiencies are more common in Asians and mutations are heterogeneous among different countries. This study aimed to determine the prevalence and genetic basis of protein C and protein S deficiencies in Thai population.

Methods: Healthy volunteers were tested for protein C activity and free protein S antigen. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.03.013DOI Listing
June 2019
7 Reads

Warfarin-Induced Skin Necrosis in the Presence of Acute Hepatic Injury and May-Thurner Syndrome.

Hosp Pharm 2019 Apr 18;54(2):130-134. Epub 2018 May 18.

Novant Health Forsyth Medical Center, Winston-Salem, NC, USA.

The purpose of the report is to describe a patient with warfarin-induced skin necrosis in the presence of acute hepatic injury and significant risk factors for venous thromboembolism, including protein C deficiency and May-Thurner syndrome. A 44-year-old female with multiple comorbidities presented to the emergency department with a significantly elevated international normalized ratio (INR > 15.9) rapidly reversed with vitamin K and fresh frozen plasma. Read More

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http://dx.doi.org/10.1177/0018578718775322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431717PMC
April 2019
28 Reads

Significance of a Family-based Study of Hereditary Thrombosis: A Single-family Case Series of Protein C Deficiency.

Intern Med 2019 Jul 28;58(13):1923-1928. Epub 2019 Mar 28.

Faculty of Medical Sciences, Kyushu University, Japan.

Thrombophilia is a serious unpredictable complication caused by gene mutations, resulting in anticoagulant deficiencies. We herein report a single-family case series of protein C (PC) deficiency. Case 1 involved a Japanese man whose PC deficiency resulted in severe systemic thrombosis. Read More

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http://dx.doi.org/10.2169/internalmedicine.2308-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663546PMC
July 2019
27 Reads

A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby.

J Pediatr Hematol Oncol 2019 05;41(4):e210-e215

Departments of Hematology/Oncology.

Objective: The main objectives of this article were to study a severe congenital protein C deficiency (PCD) in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and analyze the cause of this case.

Materials And Methods: We had recorded clinical manifestations of the patient, laboratory tests, imaging studies, and gene sequencing of the PROC gene and NOTCH3 gene to study the disease in this family. We checked the change of NOTCH3 protein by immunohistochemistry. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6493701PMC
May 2019
8 Reads

Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban: A case report.

Pediatr Blood Cancer 2019 06 5;66(6):e27686. Epub 2019 Mar 5.

Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan.

A male patient diagnosed with severe congenital protein C (PC) deficiency during the neonatal period was treated with long-term warfarin but frequently developed purpura fulminans and bleeding. At four years of age, edoxaban was initiated (direct oral anticoagulant [DOAC]). His d-dimer and fibrin/fibrinogen degradation product levels were closely monitored. Read More

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http://dx.doi.org/10.1002/pbc.27686DOI Listing
June 2019
28 Reads

Escherichia coli Bacteremia-induced Purpura Fulminans: A Case Report.

Cureus 2018 Nov 26;10(11):e3638. Epub 2018 Nov 26.

Surgery, Riverside Community Hospital / University of California, Riverside, USA.

Purpura fulminans (PF) is a dermatologic manifestation of an underlying life-threatening condition associated with disseminated intravascular coagulation and skin necrosis. The known categories include protein C deficiency or abnormalities of other coagulation systems (inherited or acquired), acute infectious PF and idiopathic. We describe a case of PF induced by associated bacteremia. Read More

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http://dx.doi.org/10.7759/cureus.3638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351005PMC
November 2018
29 Reads

Deep venous thrombosis of lower limbs in adolescents: a study in a tertiary hospital.

Int J Adolesc Med Health 2019 Feb 1. Epub 2019 Feb 1.

Unit of Adolescent Medicine, Department of Pediatrics, Hospital of Braga, Braga, Portugal.

Background Venous thromboembolism (VTE) - which includes deep venous thrombosis (DVT) and pulmonary embolism (PE) - has been increasingly recognized in the pediatric population. The estimated incidence is 0.07-0. Read More

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http://www.degruyter.com/view/j/ijamh.ahead-of-print/ijamh-2
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http://dx.doi.org/10.1515/ijamh-2018-0137DOI Listing
February 2019
44 Reads

Laboratory Diagnostics in Thrombophilia.

Hamostaseologie 2019 Feb 31;39(1):49-61. Epub 2019 Jan 31.

Department of Hematology and Oncology, Internal Medicine III, University Hospital Regensburg, Regensburg, Germany.

A thrombophilic disorder is a hereditary or acquired condition that increases the risk of thrombosis. The most common hereditary thrombophilias that predispose to venous thrombosis in the Caucasian population are the heterozygous forms of the factor V Leiden and prothrombin G20210A mutation that are generally detected by direct DNA genotyping. Immunologic antigen assays and chromogenic or clot-based activity assays are used to identify deficiencies in the natural coagulation inhibitors antithrombin, protein C and protein S. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677840
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http://dx.doi.org/10.1055/s-0039-1677840DOI Listing
February 2019
20 Reads