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Cureus 2022 Jul 10;14(7):e26722. Epub 2022 Jul 10.

Department of Internal Medicine, Grand Strand Medical Center, Myrtle Beach, USA.

Patent foramen ovale (PFO) occurs in about 25% of the population. PFO closure has been shown to decrease the risk of stroke in patients with recurrent strokes as compared to those treated with medical therapy alone, with more benefit in those with larger PFO sizes. Percutaneous PFO closure, although minimally invasive, does carry surgical risks, which must also be taken into account. Read More

PLoS One 2022 13;17(7):e0268481. Epub 2022 Jul 13.

Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Background: Very few comparative studies have focused on the differences in the causes of ischemic stroke between young adults and non-young adults. This study was performed to determine what causes of ischemic stroke are more important in young adults than in non-young adults using a large-scale multicenter hospital-based stroke registry in Fukuoka, Japan.

Methods And Results: We investigated data on 15,860 consecutive patients aged ≥18 years with acute ischemic stroke (mean age: 73. Read More

Front Cardiovasc Med 2021 23;8:796755. Epub 2022 Jun 23.

Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Plasma levels of the anticoagulant cofactor protein S and PROS1 mutation are reported to impart increased risk of thromboembolism in European and south east Asian populations, but the relationship is not yet documented in Han Chinese in population-based study. Therefore, we undertook a case-control study of this relationship among patients with venous thromboembolism, and probed the genetic factors contributing to low protein S deficiency. Among the 603 consecutively recruited venous thromboembolism patients, 51 (8. Read More

Eur J Case Rep Intern Med 2022 5;9(5):003355. Epub 2022 May 5.

St. Barnabas Hospital Health System, Bronx, NY, USA.

Clot in transit (CIT) is a rare condition in which a venous thromboembolism becomes lodged in the right heart. It is seen in up to 18% of patients with massive pulmonary embolism, and if left untreated, mortality rates are between 80% and 100%. The identification and management of CIT are crucial. Read More

Indian J Hematol Blood Transfus 2022 Jul 14;38(3):522-528. Epub 2021 Aug 14.

Internal Medicine, INHS Asvini, Mumbai, India.

In patients with Cerebral Venous Thrombosis (CVT), inherited and acquired thrombophilic conditions have been studied either individually or as subset of a comprehensive evaluation. None of the studies have included a comprehensive evaluation of all the known associations. The associations for various conditions have been found to differ significantly between the Indian and the Western population. Read More

J Pediatr Hematol Oncol 2022 Jun 8. Epub 2022 Jun 8.

Department of Hematology and Oncology Laval University Hospital, Quebec, QC.

Idiopathic purpura fulminans (PF) is rare but has been reported in pediatric patients, commonly following infections. We present a case of a 5-year-old boy, heterozygous for factor V Leiden, with no history of recent infections, who presented with PF secondary to acquired protein S deficiency. Despite initial supportive treatment, the patient required surgical fasciotomy and extensive skin grafts. Read More

World J Clin Cases 2022 May;10(14):4640-4647

Institute of Basic Theory for Chinese Medicine, China Academy of Chinese Medical Sciences, Beijing 100700, China.

Background: The contradictory process of coagulation and anticoagulation maintains normal physiological function, and platelets (PLTs) play a key role in hemostasis and bleeding. When severe thrombocytopenia and deep vein thrombosis (DVT) occur simultaneously, the physician will be confronted with a great challenge, especially when interventional thrombectomy fails.

Case Summary: We describe a 52-year-old woman who suffered from myelodysplastic syndrome with severe thrombocytopenia and protein S deficiency with right lower extremity DVT. Read More

Ann Med Surg (Lond) 2022 May 3;77:103719. Epub 2022 May 3.

Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal.

Introduction: Mesenteric venous thrombosis is due to blood clot in veins that drain blood from the intestine. It may lead to mesenteric ischemia. Protein S deficiency is one of the causes of superior mesenteric vein thrombosis. Read More

Diagnostics (Basel) 2022 Apr 23;12(5). Epub 2022 Apr 23.

Department of Medical Genetics, University Hospital Olomouc, 77900 Olomouc, Czech Republic.

The deficiency of natural anticoagulants-antithrombin (AT), protein C (PC), and protein S (PS)-is a highly predisposing factor for thrombosis, which is still underdiagnosed at the genetic level. We aimed to establish and evaluate an optimal diagnostic approach based on a high-throughput sequencing platform suitable for testing a small number of genes. A fast, flexible, and efficient method involving automated amplicon library preparation and target sequencing on the Ion Torrent platform was optimized. Read More

Int J Hematol 2022 May 12. Epub 2022 May 12.

Department of Laboratory Sciences, College of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.

This study investigated patients with thrombophilia and current peripartum management practices based on national surveillance in Japan. Between 2014 and 2018, antithrombin (AT), protein C (PC) and protein S (PS) deficiency were observed in 84, 67, and 443 pregnancies, respectively, with incidence rates among total deliveries at 0.012%, 0. Read More

BMC Neurol 2022 May 2;22(1):164. Epub 2022 May 2.

The National Clinical Research Center for Mental Disorders & Beijing Key Laboratory of Mental Disorders, Beijing Anding Hospital, Capital Medical University, Beijing, China.

Objective: To describe the characteristics of patients with cerebral venous sinus thrombosis (CVST) and dural arteriovenous fistula (AVF) associated with protein S (PS) deficiency.

Methods: We conducted a search of medical records in Hainan General Hospital from January 2000 to December 2020 for coexistence of CVST and dural AVF associated with PS deficiency and searched PubMed、Embase and Chinese biomedical databases (CBM) for all literature describing CVST and dural AVF with PS. We analyzed clinical characteristics, location, sequence of CVST and dural AVF, level of PS, therapeutic methods and prognosis. Read More

Res Pract Thromb Haemost 2022 Feb 7;6(2):e12678. Epub 2022 Mar 7.

Departments of Biochemistry and Internal Medicine CARIM Maastricht University Medical Centre Maastricht The Netherlands.

Background: Low plasma levels of protein C or protein S are associated with venous thromboembolism rather than myocardial infarction. The high coagulant activity in patients with thrombophilia with a (familial) defect in protein C or S is explained by defective protein C activation, involving thrombomodulin and protein S. This causes increased plasmatic thrombin generation. Read More

J Blood Med 2022 3;13:105-111. Epub 2022 Mar 3.

Pharmaceutical Care Department, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Background: Historically, warfarin was the mainstay anticoagulant agent to manage patients presenting with thrombotic disorders caused by Protein C or S deficiency. Several direct oral anticoagulants (DOACs) were introduced over the past decade. They showed superiority over warfarin in patients with venous thromboembolism in many landmark trials. Read More

Zhonghua Xue Ye Xue Za Zhi 2022 Jan;43(1):48-53

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

To analyze the clinical manifestations and molecular pathogenesis of 18 patients with inherited protein S (PS) deficiency. Eighteen patients with inherited PS deficiency who were admitted to the Institute of Hematology & Blood Diseases Hospital from June 2016 to February 2019 were analyzed: activity of protein C (PC) and antithrombin (AT) , PS activity were measured for phenotype diagnosis; high throughput sequencing (HTS) was used for screening of coagulation disease-related genes; Sanger sequencing was used to confirm candidate variants; Swiss-model was used for three-dimensional structure analysis. The PS:C of 18 patients ranged from 12. Read More

Leg Med (Tokyo) 2022 Mar 29;55:102029. Epub 2022 Jan 29.

Department of Legal Medicine, Hyogo College of Medicine, Hyogo, Japan.

A Japanese man in his 30s died suddenly. Postmortem computed tomography and autopsy revealed a pulmonary embolism from an organizing thrombus in the inferior vena cava as the cause of death. Genomic analysis of congenital thrombophilia-related genes (i. Read More

Int J Lab Hematol 2022 Jun 2;44(3):626-634. Epub 2022 Feb 2.

Department of Hematology and Blood Banking, Faculty of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Background: Antithrombin (AT), protein C (PC), and protein S (PS) are natural anticoagulant proteins that deficiency in each of them is associated with an increased risk of venous thromboembolism.The overlapping of plasma levels of AT, PC, and PS between healthy individuals and heterozygote carriers poses significant challenges in precise diagnosis. This study aimed to evaluate the effect of most influencing variables on plasma levels of these proteins and propose specific reference intervals to improve the interpretation of the laboratory results. Read More

Zhonghua Er Ke Za Zhi 2022 Feb;60(2):134-138

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To explore the clinical characteristics and genotype of PROS1 gene related hereditary protein S deficiency (PSD) with the onset of pulmonary embolism in children. A family with pulmonary embolism was diagnosed as hereditary PSD in the Department of Pediatrics of Peking University First Hospital in November 2020, and the clinical data, including clinical manifestations, laboratory tests, imaging and genetic results, were collected for a retrospective research. The family members were also screened for protein S activity and PROS1 gene mutations. Read More

Case Rep Neurol 2021 Sep-Dec;13(3):744-748. Epub 2021 Nov 18.

Jupiter Hospital, Pune, India.

This case represents a unique example of stroke in a young patient involving major venous sinuses as well as major artery in a span of 6 months. After evaluation, he was found to have an abnormal thrombophilia profile. In young patients with recurrent stroke, investigating for an abnormal thrombophilia profile is crucial. Read More

J Reprod Immunol 2022 Mar 11;150:103476. Epub 2022 Jan 11.

Faculty of Pharmaceutical Sciences, Nagasaki International University, Nagasaki, Japan.

Background: Protein S (PS) deficiency and autoantibodies that bind to PS (anti-PS) have been described in patients with adverse pregnancy outcomes, including pregnancy loss. PS Tokushima is a congenital abnormality of the second epidermal growth factor (EGF)-like domain, and anti-PS has been reported to recognize EGF-like domains.

Objectives: We evaluated the role of PS Tokushima and anti-PS in patients with pregnancy loss. Read More

J Obstet Gynaecol 2022 Jan 20:1-6. Epub 2022 Jan 20.

Center of Prenatal Diagnosis, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.

The aim of this study was to analyse the risk factors of pregnancy loss of patients with recurrent spontaneous abortion (RSA) and develop a scoring system to predict RSA. Clinical data of 242 cases, with RSA who were treated at Fujian Provincial Maternity and Children's Hospital, were selected. The factors of pregnancy loss for RSA patients were evaluated by univariate and multivariate analyses. Read More

J Thromb Thrombolysis 2022 Jul 15;54(1):156-161. Epub 2022 Jan 15.

Department of Hematology, Institute of Hematology, West China Hospital, Sichuan University, No 37 Guoxue Alley, District Wuhou, Chengdu, 610041, Sichuan, China.

Protein S deficiency is associated with an increased risk of thromboembolism, which may be caused by hereditary deficiency and several physiological and pathologic conditions, such as pregnancy, contraceptive use, liver diseases, inflammatory disease, and certain viruses infections. However, monoclonal immunoglobulin-mediated Protein S deficiency is rarely reported. Here we described a 49-year-old woman with a history of recurrent painful swelling in both lower extremities due to venous thrombosis for 7 years, accompanied by recurrent gross hematuria and multiple painful necrotic purpuras for 5 years, who was then diagnosed with acquired Protein S deficiency induced by the monoclonal immunoglobulin. Read More

Thromb Res 2022 Feb 21;210:26-32. Epub 2021 Dec 21.

Division of Cellular and Genetic Sciences, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Introduction: Protein S is a vitamin K-dependent glycoprotein with important anticoagulant, fibrinolytic, anti-inflammatory, anti-apoptotic, and cytoprotective functions. Congenital protein S deficiency is an autosomal dominant thrombophilia due to protein S gene (PROS1) variations. Our group identified a variation in PROS1 that translates into protein S deficiency: c. Read More

Medicine (Baltimore) 2021 Dec;100(52):e28436

Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.

Rationale: Venous thrombosis remains a significant problem in modern days. Genetic factors contribute to a subset of patients with venous thrombosis. It is sometimes challenging to identify the underlying culprit in thrombophilic individuals based on traditional laboratory testing and Sanger sequencing. Read More

Transfus Apher Sci 2022 Jun 16;61(3):103345. Epub 2021 Dec 16.

Department of Medicine, McMaster University, Hamilton, Ontario, Canada; Department of Pathology & Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. Electronic address:

Background: Protein S deficiency is associated with increased risk of venous thromboembolism, complicating the perioperative management of such patients. We present a patient with sickle cell disease (Hb SC genotype) and inherited protein S deficiency who underwent a living-donor renal transplant. To minimize thrombotic risk and sickle cell complications, both plasma exchange and red blood cell (RBC) exchange transfusion were performed pre-operatively. Read More

Blood Coagul Fibrinolysis 2022 Jun 22;33(4):224-227. Epub 2021 Dec 22.

Department of Transfusion Medicine and Haemostaseology, University Hospital of Erlangen, Friedrich-Alexander University Erlangen-Nurnberg (FAU), Erlangen, Germany.

The members of a Caucasian family were genetically analyzed on suspicion of hereditary protein S deficiency. A novel mutation, c.1904T>C, associated with severe quantitative protein S deficiency was found. Read More

Indian J Sex Transm Dis AIDS 2021 Jul-Dec;42(2):175-176. Epub 2021 Nov 9.

Pediatric HIV Clinic, Department of Pediatric Infectious Diseases, B J Wadia Hospital for Children, Mumbai, Maharashtra, India.

HIV infection can lead to venous thrombosis due to protein C deficiency, protein S deficiency, or antiphospholipid syndrome. Most patients present with deep vein thrombosis or pulmonary embolism. We report a 10-years-old HIV-infected girl who presented with life-threatening hematemesis. Read More

Case Rep Cardiol 2021 28;2021:2232057. Epub 2021 Nov 28.

Department of Cardiology, Creighton University School of Medicine, Omaha, NE, USA.

Background: Chylopericardium is the accumulation of lymphatic fluid in the pericardial cavity. It can be idiopathic or secondary to trauma, cardiothoracic surgery, neoplasm, radiation, tuberculosis, lymphatic duct dysfunction, thrombosis, or other causes. We present a case of chylopericardium due to subclavian vein thrombosis in a patient with protein S deficiency. Read More

Pediatr Neonatol 2022 01 28;63(1):86-88. Epub 2021 Oct 28.

Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan; Department of Microbiology and Immunology, National Defense Medical Center, Taipei, Taiwan. Electronic address:

Neurology 2022 02 19;98(5):e555-e560. Epub 2021 Nov 19.

From the Maxine Mesinger Multiple Sclerosis Comprehensive Care Center (S.A., G.J.H., F.X.C.) and Departments of Neurology and Neurosurgery (O.T.), Baylor College of Medicine, Houston, TX.

We present the case of a 57-year-old man with protein S deficiency and left leg deep vein thrombosis (DVT) 5 years earlier, who developed stepwise progressive bilateral lower limb weakness, numbness/paresthesia, gait imbalance, hesitancy of micturition, and constipation in the setting of recurrent left common femoral DVT treated with apixaban. Symptoms amplified with Valsalva, corticosteroids, and postlumbar puncture, with longitudinally extensive midthoracic T2-hyperintense lesion extending to the conus associated with hazy holocord enhancement on magnetic resonance imaging (MRI), raising suspicion for spinal dural arteriovenous fistula (sDAVF). Initial digital subtraction angiography (DSA) was negative for sDAVF. Read More

BMJ Case Rep 2021 Nov 18;14(11). Epub 2021 Nov 18.

Department of Pharmacy, Virginia Commonwealth University Health System, Richmond, Virginia, USA

Current literature suggests an increased risk of venous thromboembolism (VTE) in people living with HIV (PLWH) with poorly controlled viraemia and immunodeficiency. VTE treatment guidelines do not specifically address anticoagulation management in PLWH. We report a case of a 33-year-old woman diagnosed with an unprovoked pulmonary embolism (PE) and deemed protein S deficient. Read More