1,749 results match your criteria Protein S Deficiency


Use of hyperbaric oxygen therapy of purpura fulminans in an extremely low birth weight preterm: A case report.

J Neonatal Perinatal Med 2020 Jul 29. Epub 2020 Jul 29.

Department of Neonatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.

Purpura fulminans (PF) is a rare and fatal complication of septic shock or diffuse intravascular coagulation (DIC) resulting in skin and soft tissue necrosis. PF can be caused by congenital or acquired protein C (PC) or protein S (PS) deficiency. The most common cause of PF in a neonate is sepsis. Read More

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http://dx.doi.org/10.3233/NPM-200428DOI Listing

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

Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia.

Acta Haematol 2020 Jul 10:1-4. Epub 2020 Jul 10.

Institute of Clinical Chemistry, University Hospital of Schleswig-Holstein, Lübeck/Kiel, Germany.

Protein S (PS) is an important anticoagulant. Its main function is to act as a non-enzymatical cofactor of activated protein C. PS deficiency is defined as low plasma levels of PS and/or loss of function associated with variable risk of venous thromboembolism (VTE). Read More

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http://dx.doi.org/10.1159/000508525DOI Listing

Open abdomen management for massive intestinal infarction due to acute splanchnic venous thrombosis in a patient with protein S deficiency. A case report.

Int J Surg Case Rep 2020 6;72:122-126. Epub 2020 Jun 6.

Emergency Surgery Unit, Careggi University Hospital, Largo Brambilla 3, 50134, Florence, Italy. Electronic address:

Introduction: Acute mesenteric ischemia (AMI) refers to the sudden onset of intestinal hypoperfusion that can also result from splanchnic venous occlusion. The portomesenteric venous system (PMVS) is an unusual site of thrombosis in patients with protein S deficiency and its obstruction is a rare cause of AMI. Aim of this report is to illustrate a successful strategy in a case of massive small bowel infarction managed with an open abdomen (OA) approach. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.05.076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298329PMC

Pregnancy and Its Outcome in a Rare Case of Combined Protein C and Protein S Deficiency with Severe Adenomyosis.

J Obstet Gynaecol India 2020 Jun 8;70(3):234-236. Epub 2019 Oct 8.

2Bombay Hospital and Medical Research Centre, New Marine Lines, Mumbai, Maharashtra India.

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http://dx.doi.org/10.1007/s13224-019-01276-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239980PMC

A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.

Clin Sci (Lond) 2020 05;134(10):1181-1190

INSERM UMR 1219, Bordeaux Population Health Research Center, University of Bordeaux, Bordeaux, France.

Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c. Read More

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http://dx.doi.org/10.1042/CS20200403DOI Listing

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.

Mol Genet Genomic Med 2020 Jul 28;8(7):e1273. Epub 2020 Apr 28.

Department of Ophthalmology, Columbia University, New York, NY, USA.

Background: The C677T variant of the MTHFR (5,10-Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S deficiency is also associated with an increased risk of thromboembolism from reduced thrombin generation. In this report, we describe the case of a patient who presented with multiple retinal vein occlusions likely caused by an underlying combination of a homozygous MTHFR C677T variant and protein S deficiency. Read More

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http://dx.doi.org/10.1002/mgg3.1273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336745PMC

A descriptive monocentric study in Algeria of adults with cerebral venous thrombosis.

Rev Neurol (Paris) 2020 Apr 22. Epub 2020 Apr 22.

Laboratoire de recherche sur le diabète, Department of Internal Medicine, University Aboubek-Belkaid, Tlemcen, Algeria.

Introduction: Patients with cerebral venous thrombosis (CVT) often present with slowly progressive symptoms, leading to delay in diagnosis. The aim of our single-center study was to highlight the clinical patterns and etiological features of CVT, and to show the impact of diagnostic delay on prognosis in Algerian adults.

Methods: Retrospective and prospective data of patients with radiologically confirmed CVT were collected over a 10-year period at the neurovascular emergency unit of the Salim Zemirli hospital in Algiers. Read More

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http://dx.doi.org/10.1016/j.neurol.2020.02.006DOI Listing

Protein S for Portal Vein Thrombosis in Cirrhotic Patients Waiting for Liver Transplantation.

J Clin Med 2020 Apr 20;9(4). Epub 2020 Apr 20.

Division of Liver and Transplantation Surgery, Department of General Surgery, Chang-Gung Memorial Hospital, 5, Fu-Hsing Street, Kwei-Shan, Taoyuan 333, Taiwan.

Portal vein thrombus (PVT) is a challenge in liver transplantation. How PVT develops in cirrhotic patients who already have coagulopathy is unclear. This study aimed to investigate possible contributing factors to PVT in cirrhotic patients. Read More

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http://dx.doi.org/10.3390/jcm9041181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230503PMC

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

Protein S Deficiency and Arterial Thromboembolism: A Case Report and Review of the Literature.

J Hematol 2019 Mar 30;8(1):37-39. Epub 2019 Mar 30.

Little Company of Mary Hospital, 2800 W. 95th St., Evergreen Park, IL, USA.

Protein S (PS) deficiency is associated with a well documented risk of venous thromboembolism. However, the relation between PS deficiency itself to arterial thrombotic events (ATEs) is not clearly established. In our case, we report an ATE in a patient with a documented novel mutation and a family history of PS deficiency. Read More

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http://dx.doi.org/10.14740/jh478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153672PMC

Childhood Nephrotic Syndrome Complicated by Catastrophic Multiple Arterial Thrombosis Requiring Bilateral Above-Knee Amputation.

Front Pediatr 2020 19;8:107. Epub 2020 Mar 19.

Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Thromboembolic events are rare but critical complications in childhood nephrotic syndrome. The veins are more commonly affected, while arterial thrombosis is extremely rare but often life-threatening. Herein, we describe the clinical course of a 10-years-old girl with catastrophic multiple arterial thrombosis at the primary onset of nephrotic syndrome who underwent bilateral above-knee amputation. Read More

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http://dx.doi.org/10.3389/fped.2020.00107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7096371PMC

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

A novel splicing mutation in the PROS1 gene causes hereditary protein S deficiency in a Chinese family with thrombotic disease.

Thromb Res 2020 05 17;189:93-95. Epub 2020 Mar 17.

Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing 102206, China. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.03.006DOI Listing
May 2020
2.447 Impact Factor

Hypofibrinogenaemia: A Case of Spontaneous Bleeding and Central Venous Thrombosis in the Same Lifetime.

Eur J Case Rep Intern Med 2020 28;7(2):001424. Epub 2020 Jan 28.

Immunohemotherapy Department, Hospital Santa Maria, Lisbon, Portugal.

The authors present the case of a 27-year-old patient who suffered from spontaneous bleeding during infancy and from a severe and central venous thrombosis in adult years. The patient underwent a thorough laboratory work-up on both occasions and was diagnosed with hypofibrinogenaemia as well as protein S deficiency, 2 diseases that contrast in their intrinsic bleeding/thrombotic risk. The patient's high-risk pregnancy was carried out up to a successful full-term eutocic delivery which required fibrinogen concentrate to reduce life-threatening bleeding. Read More

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http://dx.doi.org/10.12890/2020_001424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050973PMC
January 2020

An exceptional case of severe combined inherited thrombophilia successfully treated with rivaroxaban.

Blood Coagul Fibrinolysis 2020 Jun;31(4):279-282

Hemostasis and Thrombosis Unit, Division of Hematology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

: We herein report the case of a young patient who presented with premature thromboembolic venous disease secondary to combined heterozygous G20210A prothrombin mutation, dual homozygosity for Factor V Leiden, and severe protein S deficiency. This association has never been reported to date and is likely to be exceptional, even in populations wherein these thrombophilia traits are more common. Long-term antithrombotic prophylaxis with rivaroxaban has proven successful in preventing clinical recurrence under prolonged treatment. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000904DOI Listing

Apixaban Does Not Interfere With Protein S or Activated Protein C Resistance (Factor V Leiden) Testing Using aPTT-Based Methods.

Arch Pathol Lab Med 2020 Feb 26. Epub 2020 Feb 26.

From the Department of Pathology, Massachusetts General Hospital, Boston.

Context.—: Apixaban causes a false increase in activated protein C resistance (APCR) ratios and possibly protein S activity.

Objective. Read More

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http://dx.doi.org/10.5858/arpa.2019-0497-OADOI Listing
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

Ischemic Stroke with Protein S Deficiency Treated by Apixaban.

J Stroke Cerebrovasc Dis 2020 Apr 13;29(4):104608. Epub 2020 Jan 13.

Division of Cerebrovascular Medicine and Neurology, National Hospitalization Organization, Kyushu Medical Centre, Japan.

A 57-year-old man with atherosclerosis obliterans was admitted with sudden-onset sensory aphasia and right hemiparesis. Brain MRI revealed acute cerebral infarctions in the left temporal lobe and magnetic resonance angiography showed occlusion of the posterior branch of the left middle cerebral artery. Transesophageal echocardiography and ultrasonography respectively confirmed a patent foramen ovale and deep vein thrombosis in the bilateral femoral veins. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.104608DOI Listing

Spiny keratoderma: Report of three cases.

J Cosmet Dermatol 2020 Aug 20;19(8):2006-2010. Epub 2019 Dec 20.

Sector of Dermatology and Post Graduation Course in Dermatology, University Hospital and School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Background: Spiny keratoderma shows "music box spine" keratotic papules limited to the palms and soles and these lesions do not cause any trouble besides the cosmetic impairment and the sensation of roughness of hands and soles.

Aim: To present cases and review the literature on spiny keratoderma.

Patients/methods, Results: Three cases of spiny keratoderma are presented. Read More

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http://dx.doi.org/10.1111/jocd.13248DOI Listing

Peripartum myocardial infarction associated with coronary spasm and acquired protein S deficiency: A case report.

Medicine (Baltimore) 2019 Nov;98(48):e18108

Division of Anesthesiology and Critical Care Medicine, Department of Surgery, Tottori University Faculty of Medicine, Tottori, Japan.

Rationale: Coronary angiography (CAG) findings of acute myocardial infarction (AMI) in pregnant women are characterized by a high incidence of normal coronary arteries. This is the first report of AMI with normal coronary arteries during pregnancy, showing coronary spasm and pregnancy-related acquired protein S (PS) deficiency.

Patient Concerns: A 30-year-old Japanese woman was admitted to an emergency department. Read More

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http://dx.doi.org/10.1097/MD.0000000000018108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6890345PMC
November 2019

Myocardial infarction in a pregnant woman revealing a transitional deficit in protein S: a rare case report.

Pan Afr Med J 2019 12;34:27. Epub 2019 Sep 12.

Departement of Cardiology B, CHU Ibn Sina, Mohamed V University Rabat, Rabat, Morocco.

The occurrence of myocardial ischemia and myocardial infarction in pregnancy is relatively rare, the occurrence of myocardial infarction in pregnancy is associated with cardiovascular risk factors. The deficiency of coagulation regulatory systems in the occurrence of venous thrombosis is well established; however, their role in arterial thrombosis is controversial. Here, we present an interesting case of a 34-year-old of acute myocardial syndrome without persistent ST segment elevation, which revealed transient protein S deficiency. Read More

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http://dx.doi.org/10.11604/pamj.2019.34.27.18614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859020PMC
December 2019

A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.

J Clin Lab Anal 2020 Apr 19;34(4):e23111. Epub 2019 Nov 19.

Department of Respiratory, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

Background: Thrombophilia is becoming a more frequently reported disorder these years. Hereditary protein S deficiency is one of the anticoagulant deficiencies that eventually results in thrombophilia.

Case Presentation: A 24-year-old male patient was suffering from unexplained thrombosis for the second time with a family history of deep venous thrombosis. Read More

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http://dx.doi.org/10.1002/jcla.23111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171343PMC
April 2020
4 Reads

Cerebral Venous Thrombosis and Acute Pulmonary Embolism following Varicella Infection.

Eur J Case Rep Intern Med 2019 20;6(10):001171. Epub 2019 Sep 20.

Department of Cardiology, Belhoul Speciality Hospital, Dubai, UAE.

Varicella infection is caused by varicella-zoster virus (VZV) and commonly presents as a self-limiting skin manifestation in children. VZV also causes cerebral arterial vasculopathy and antibody-mediated hypercoagulable states leading to thrombotic complications in children, although there are very few such reports in adults. Postulated causal factors include vasculitis, direct endothelial damage, or acquired protein S deficiency secondary to molecular mimicry. Read More

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http://dx.doi.org/10.12890/2019_001171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822667PMC
September 2019

Predictive value of protein S-specific activity and ELISA testing in patients with the protein S K196E mutation.

Thromb Res 2020 01 31;185:1-4. Epub 2019 Oct 31.

Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.

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http://dx.doi.org/10.1016/j.thromres.2019.10.026DOI Listing
January 2020

Reconstructive complications of thrombophilia and keloid scarring: free flap surgery in a patient with mild protein S deficiency.

Authors:
A Regan J McMahon

Br J Oral Maxillofac Surg 2019 12 16;57(10):1173. Epub 2019 Oct 16.

Queen Elizabeth University Hospital, Glasgow. Electronic address:

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http://dx.doi.org/10.1016/j.bjoms.2019.08.031DOI Listing
December 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

Cerebral venous sinus thrombosis associated with protein S deficiency during pregnancy: a case report.

J Obstet Gynaecol 2020 Jan 1;40(1):135-136. Epub 2019 Sep 1.

Department of Medicine, Division of Neurology, Jichi Medical University School of Medicine, Tochigi, Japan.

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http://dx.doi.org/10.1080/01443615.2019.1606789DOI Listing
January 2020

Validation and standardization of the ETP-based activated protein C resistance test for the clinical investigation of steroid contraceptives in women: an unmet clinical and regulatory need.

Clin Chem Lab Med 2020 Jan;58(2):294-305

University of Namur, Department of Pharmacy, Namur Thrombosis and Hemostasis Center, NAmur Research Institute for LIfe Sciences, Namur, Belgium.

Background Regulatory bodies recommend the use of an assay based on the assessment of the endogenous thrombin potential (ETP) for the investigation of the activated protein C resistance (APCr) in the development of steroid contraceptives in women. However, the assays described in the literature are home-made and not standardized regarding the method, the reagents, the reference plasma and the quality controls. In the absence of any commercially available method, we aimed at validating the ETP-based APCr assay. Read More

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http://dx.doi.org/10.1515/cclm-2019-0471DOI Listing
January 2020
1 Read

Compound heterozygous mutations identified in severe type I protein S deficiency impaired the secretion of protein S.

J Clin Pathol 2020 Jan 17;73(1):7-13. Epub 2019 Aug 17.

Department of Laboratory Medicine, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China

Aims: Hereditary protein S (PS) deficiency is one of the natural anticoagulant deficiencies causing thrombophilia. We herein described a young male with recurrent deep venous thrombosis, who was diagnosed as type I PS deficiency with compound heterozygous mutations of gene. We aimed to analyse the relationship between the genotype and phenotype detection and investigate the pathological mechanisms of mutations causing PS deficiency. Read More

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http://dx.doi.org/10.1136/jclinpath-2019-205956DOI Listing
January 2020
3 Reads

Risk Factors and Outcomes of Recurrent Pregnancy Loss in Japan.

J Obstet Gynaecol Res 2019 Oct 9;45(10):1997-2006. Epub 2019 Aug 9.

Department of Obstetrics and Gynecology, University of Toyama, Toyama, Japan.

Aim: To clarify the risk factors and pregnancy outcomes for each risk factor of recurrent pregnancy loss (RPL) in Japan.

Methods: Using a prospective RPL database collected from 16 facilities in Japan, the prevalence of risk factors for RPL, their treatments and pregnancy outcomes were examined.

Results: Of 6663 patients registered in our database, 5708 patients had RPL. Read More

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http://dx.doi.org/10.1111/jog.14083DOI Listing
October 2019
2 Reads

Arterial Ischemic Stroke in a Child with Internal Carotid Artery Hypoplasia and Protein S Deficiency.

J Pediatr Neurosci 2019 Jan-Mar;14(1):52-54

Consultant Pediatrician, Jain Medicity, Bikaner, Rajasthan, India.

Congenital heart diseases, hemolytic anemia, collagen vascular diseases, and neurometabolic disorders are known to be associated with the development of arterial ischemic stroke (AIS) in children. However, not all the children with the aforementioned conditions develop AIS. Hence, the possibility of interplay of various predisposing factors in children with inherent underlying medical conditions seems likely. Read More

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http://dx.doi.org/10.4103/jpn.JPN_80_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601121PMC
July 2019
4 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

Direct Oral Anticoagulants in Patients Affected by Major Congenital Thrombophilia.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019044. Epub 2019 Jul 1.

Hematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.

Background: Thrombophilia is a condition that predisposes to a higher incidence of venous thromboembolisms (VTE), some also in atypical sites. Direct oral anticoagulants (DOACs) have proven to be effective in the treatment of deep vein thrombosis (DVT). However, their use can be sometimes challenging in particular settings of patients such as those with major thrombophilia - antithrombin, protein C and protein S deficiency, homozygous mutation of Factor V Leiden, homozygous mutation of Factor II G20210A, combined heterozygous mutation of factor V Leiden and Factor II G20210A - carrying a high thrombotic risk. Read More

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http://dx.doi.org/10.4084/MJHID.2019.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613626PMC
July 2019
4 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

Spontaneous skin necrosis revealing protein S deficiency in Crohn's disease.

J Med Vasc 2019 Jun 18;44(4):291-294. Epub 2019 May 18.

Department of anatomical pathology university hospital, Sousse, Tunisia.

Inflammatory bowel diseases are associated with a state of hypercoagulability secondary to several mechanisms, protein S deficiency being one of these. It can be revealed by spontaneous skin necrosis in children. This condition is rare in adults with Crohn's disease. Read More

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http://dx.doi.org/10.1016/j.jdmv.2019.04.007DOI Listing
June 2019
6 Reads

[Exhaustive analysis of genetic mutations associated with protein S deficiency utilizing next-generation sequencing analysis].

Rinsho Ketsueki 2019 ;60(3):171-183

Department of Laboratory Medicine, Tokyo Medical University.

Protein S (PS) gene (PROS1) is found on chromosome 3 (3q11.1). To date, the reported detection rate of causative gene mutations in patients suspected of PS deficiency is only approximately 50%. Read More

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https://www.jstage.jst.go.jp/article/rinketsu/60/3/60_171/_a
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http://dx.doi.org/10.11406/rinketsu.60.171DOI Listing
August 2019
18 Reads

Recurrent venous thrombosis during direct oral anticoagulant therapy in a patient with protein S deficiency.

J Med Invest 2019 ;66(1.2):182-184

Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Protein S (PS) deficiency is an inherited thrombophilia associated with an increased risk of venous thromboembolism (VTE). In Japan, unfractionated heparin followed by warfarin has been historically applied for the treatment of VTE. Recent evidence showed that direct oral anticoagulants (DOACs) were non-inferior to standard therapy with warfarin, with significantly less bleeding in patients with VTE. Read More

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http://dx.doi.org/10.2152/jmi.66.182DOI Listing
December 2019
7 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

Protein S deficiency revealed by skin necrosis in a patient with lupus.

Lupus 2019 Jun 24;28(7):903-905. Epub 2019 Apr 24.

Department of Dermatology, Hospital Universitari Germans Trias i Pujol, Spain.

Protein S deficiency is rare in systemic lupus erythematosus (SLE) and is generally associated with the presence of antiphospholipid (APL) antibodies. Lack of protein S can cause skin necrosis, but when it does it is generally in response to warfarin exposure. In this article, we describe the case of a patient who had not received warfarin and without APL antibodies who developed extensive skin necrosis due to protein S deficiency. Read More

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http://dx.doi.org/10.1177/0961203319843345DOI Listing
June 2019
9 Reads

Bilateral Abducens Nerve Palsy Due to Extensive Cerebral Venous Sinus Thrombosis.

Medicina (Kaunas) 2019 Apr 23;55(4). Epub 2019 Apr 23.

Department of Neurology, Osijek University Hospital, Faculty of Medicine, University of Osijek, 31000 Osijek, Croatia.

Cerebral venous sinus thrombosis (CVST) is a relatively rare condition. We present a case of an acute aseptic thrombosis of the sagittal, transverse and sigmoid sinus in a puerperium patient with protein S deficiency. The specifics of the case include high intracranial pressure (ICP) caused by sinus thrombosis with typical symptomatology and bilateral papilloedema, which also manifested in transient bilateral abducens nerve palsy and, consequently, bilateral horizontal diplopia. Read More

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http://dx.doi.org/10.3390/medicina55040115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524023PMC
April 2019
8 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

Clinical Reasoning: A teenager with persistent headache.

Neurology 2019 03;92(13):e1526-e1531

From the Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan Hubei, China.

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http://dx.doi.org/10.1212/WNL.0000000000007184DOI Listing
March 2019
2 Reads

Acquired Protein S Deficiency in a Patient with Lupus Nephritis.

Saudi J Med Med Sci 2019 Jan-Apr;7(1):51-52. Epub 2018 Dec 14.

Department of Nephrology, La Rabta Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.4103/sjmms.sjmms_22_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381849PMC
December 2018
7 Reads

Mixed cerebrovascular disease in an elderly patient with mixed vascular risk factors: a case report.

BMC Neurol 2019 Feb 12;19(1):26. Epub 2019 Feb 12.

Department of Neurology, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou Province, China.

Background: Mixed cerebrovascular disease is a diagnostic entity that presents with hemorrhagic and ischemic stroke clinically and/or subclinically. Here, we report a patient with mixed vascular risk factors, who presented with multiple intracerebral hemorrhages and a simultaneously occurring cerebral infarction with hemorrhagic transformation.

Case Presentation: A 63-year-old male with no history of trauma or prior neurological disease presented with a sudden onset of weakness in his right limbs, followed by an episode of focal seizure without impaired awareness. Read More

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http://dx.doi.org/10.1186/s12883-019-1248-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371517PMC
February 2019
29 Reads

New functional test for the TFPIα cofactor activity of Protein S working in synergy with FV-Short.

J Thromb Haemost 2019 04 11;17(4):585-595. Epub 2019 Mar 11.

Department of Translational Medicine, Lund University, Skåne University Hospital, Malmö, Sweden.

Essentials Protein S and FV-Short are synergistic cofactors to Tissue Factor Pathway Inhibitor α (TFPIα). An assay for the TFPIα synergistic cofactor activity of protein S with FV-Short was developed. The assay was specific for the synergistic TFPIα-cofactor activity of free protein S. Read More

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http://dx.doi.org/10.1111/jth.14405DOI Listing
April 2019
10 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

Revascularization for Cerebral Ischemia, Step-by-Step Demonstration of Bonnet Bypass: 3-Dimensional Operative Video.

Oper Neurosurg (Hagerstown) 2019 Sep;17(3):E113

Department of Neurological Surgery, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin.

The superficial temporal artery (STA) to the middle cerebral artery (MCA) bypass is the most common bypass type for revascularization to treat cerebral ischemia. If the ipsilateral STA is not available for anastomosis, various options for bypass conduits can be exercised. When the entire ipsilateral external carotid and its branches are not available, the contralateral STA may be used as a donor artery through an interposition graft. Read More

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http://dx.doi.org/10.1093/ons/opy400DOI Listing
September 2019
7 Reads