2,125 results match your criteria Protein C Deficiency

A Rare Case of Acute Infectious Purpura Fulminans Caused by and Human Herpesvirus Type 5.

J Inflamm Res 2022 26;15:4251-4260. Epub 2022 Jul 26.

Laboratory Bacteria Room, The Second Affiliated Hospital of Kunming Medical University, Kunming, 650101, People's Republic of China.

Background: Purpura fulminans (PF), a rare, life-threatening disorder, is a hematological emergency in which there is skin necrosis, disseminated intravascular coagulation (DIC), and protein C deficiency. In PF, the skin necrosis and DIC are secondary to protein C deficiency. This may progress rapidly to multiorgan failure caused by the thrombotic occlusion of small- and medium-sized blood vessels. Read More

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[Analysis of the molecular pathogenesis of hereditary protein C deficiency due to a p.Gly86Asp variant of the PROC gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Jul;39(7):685-688

Department of Clinical Laboratory, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, China.

Objective: To explore the molecular pathogenesis of hereditary protein C (PC) deficiency due to a p.Gly86Asp variant of the PROC gene through in vitro expression experiment.

Methods: Wild type and Gly86Asp mutant expression plasmids of PC were constructed and respectively transfected into HEK 293FT cells. Read More

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Hepatic Necrosis Mimicking Infiltrative Masses in Acute Budd-Chiari Syndrome With Hereditary Protein C Deficiency.

ACG Case Rep J 2022 Jun 24;9(6):e00802. Epub 2022 Jun 24.

Division of Gastroenterology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

We report the case of a patient with an unusual acute Budd-Chiari syndrome (BCS). The patient presented with high-grade fever and right upper quadrant pain. Infiltrative lesions at the right hepatic lobe and segment IVB with intrahepatic inferior vena cava and right hepatic vein thrombus appeared on abdominal imaging. Read More

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Comprehensive Thrombophilia Evaluation in Cerebral Venous Thrombosis: A Single Center Cross Sectional Study.

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

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N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts the Endothelial Barrier Integrity.

Thromb Haemost 2022 Jun 19. Epub 2022 Jun 19.

HITh, UMR_S 1176, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

Phosphomannomutase 2 (PMM2) deficiency is the most prevalent congenital disorder of glycosylation. It is associated with coagulopathy, including protein C deficiency. Since all components of the anticoagulant and cytoprotective protein C system are glycosylated, we sought to investigate the impact of an -glycosylation deficiency on this system as a whole. Read More

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Paracentral Acute Middle Maculopathy and Nonischemic Central Retinal Vein Obstruction in a Young Patient with Protein C Deficiency.

Case Rep Ophthalmol Med 2022 6;2022:1237148. Epub 2022 Jun 6.

Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Purpose: To report a case of protein C deficiency with paracentral acute middle maculopathy (PAMM) and nonischemic central retinal vein obstruction (NI-CRVO). . A previously healthy twenty-one-year-old male was referred with sudden-onset, painless, unilateral paracentral scotomata in the right eye for a week. Read More

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A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A Gene Splice Site Mutation in a Patient with Aneurysms.

Genes (Basel) 2022 Apr 22;13(5). Epub 2022 Apr 22.

Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Krakow, Poland.

Objectives: Protein C (PC) deficiency is an inherited thrombophilia with a prevalence of 0.5% in the general population and 3% in subjects with a first-time deep vein thrombosis (DVT). Here we report a series of 14 PC-deficient Polish patients with comprehensive clinical and molecular characteristics, including long-term follow-up data and a deep mutational analysis of the gene. Read More

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Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

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

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Pediatric Retinal Detachment in Homozygous Protein C Deficiency: Genetic and Phenotypic Description of a Single Family.

Ophthalmic Surg Lasers Imaging Retina 2022 05 1;53(5):293-296. Epub 2022 May 1.

Homozygous protein C deficiency is a rare hypercoagulability disorder. This study describes the ocular manifestations and the genetic background in a family with two affected children. This is a retrospective review of ophthalmic examinations, investigations, genetic testing, and blood work-up of two children with homozygous protein C deficiency from a single family. Read More

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Diagnosis and management of severe congenital protein C deficiency (SCPCD): Communication from the SSC of the ISTH.

J Thromb Haemost 2022 Jul 15;20(7):1735-1743. Epub 2022 May 15.

Departments of Pathology & Immunology, Pediatrics, and Medicine, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.

Severe congenital protein C deficiency (SCPCD) is rare and there is currently substantial variation in the management of this condition. A joint project by three Scientific and Standardization Committees of the ISTH: Plasma Coagulation Inhibitors, Pediatric/Neonatal Thrombosis and Hemostasis, and Women's Health Issues in Thrombosis and Hemostasis, was developed to review the current evidence and help guide on diagnosis and management of SCPCD. We provide a summary of the clinical presentations, differential diagnoses, appropriate investigations to confirm the diagnosis, approaches for management of the acute situation, and options for long-term management including subsequent pregnancies. Read More

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Peripartum management of hereditary thrombophilia: results of primary surveillance in Japan.

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

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Acute respiratory failure due to infection with acute fibrinous and organazing pneumonia: A case report.

Respir Med Case Rep 2022 23;37:101641. Epub 2022 Mar 23.

Department of Respiratory Medicine, Nippon Medical School Hospital, Japan.

A 59-year-old woman complaining of wet cough, hemoptysis, slight fever, anorexia, and malaise was admitted to hospital with suspected lobar pneumonia. She received treatment for myocardial infarction and deep venous thrombosis caused by familial protein C deficiency. Rapid deterioration due to respiratory failure occurred despite intensive care with broad-spectrum antibiotics. Read More

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Protein C or Protein S deficiency associates with paradoxically impaired platelet-dependent thrombus and fibrin formation under flow.

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

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February 2022

[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].

Zhonghua Xue Ye Xue Za Zhi 2022 Jan;43(1):35-40

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

To investigate the molecular pathogenesis and clinical features of unrelated 12 patients with inherited coagulation protein C (PC) deficiency in Chinese population. The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and enzyme linked immunosorbent assay, respectively. The nine exons and flanking sequences of the protein C (PROC) gene were amplified by polymerase chain reaction with direct sequencing, and the suspected mutations were validated by reverse sequencing (clone sequencing for deletion mutations) . Read More

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January 2022

Reference interval of antithrombin, protein C, and protein S activities in healthy adults in Iran, the effect of age, sex, oral contraceptive intake, and menopause.

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

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Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review.

Thromb Res 2022 Feb 3;210:70-77. Epub 2022 Jan 3.

Department of Hematology and Oncology, Children's Hospital of Chongqing Medical University, Chongqing, China; National Clinical Research Center for Child Health and Disorders, Chongqing, China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China; Chongqing Key Laboratory of Pediatrics, Chongqing, China. Electronic address:

Introduction: Purpura fulminans (PF) is a hematological emergency that can be caused by severe congenital protein C (PC) deficiency. It has been rarely reported in the Chinese population. We aimed to characterize the clinical and genetic features of Chinese pediatric patients with severe congenital PC deficiency who first presented with PF. Read More

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February 2022

Interaction between Antiphospholipid Antibodies and Protein C Anticoagulant Pathway: A Narrative Review.

Vittorio Pengo

Semin Thromb Hemost 2022 Jan 12. Epub 2022 Jan 12.

Thrombosis Research Laboratory, University of Padova, Padova, Italy.

Thrombotic antiphospholipid syndrome (APS) is a condition in which thrombosis in venous, arterial, and/or small vessels is ascribed to the presence of antiphospholipid antibodies (aPL). Among the various proposed pathogenic theories to explain thrombotic APS, those involving the interaction between aPL and the protein C system have gained much consensus. Indeed, robust data show an acquired activated protein C resistance (APC-R) in these patients. Read More

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January 2022

Sagittal sinus thrombosis in a patient with familial Protein C deficiency: Highlighting the impact of thrombophilia testing.

Malays J Pathol 2021 Dec;43(3):449-452

Universiti Sains Malaysia, School of Medical Sciences, Department of Hematology.

Plasma protein-C is a natural anticoagulant that inactivates factors Va and VIIIa. Familial protein C deficiency is inherited as an autosomal dominant disorder. The homozygous or compound heterozygous type may present early as purpura fulminant, while the heterozygous type can present as thromboembolism later in life. Read More

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December 2021

Case Report: Recurrent Transient Monocular Vision Loss Secondary to Protein C Deficiency.

Optom Vis Sci 2022 03;99(3):315-318

Department of Neuro-Ophthalmic Disease, Pennsylvania College of Optometry, Salus University, Philadelphia, Pennsylvania.

Significance: Protein C deficiency is a thrombophilic condition that increases the risk of venous and arterial thrombi, the latter of which can cause transient monocular vision loss. In cases of recurrent transient monocular vision loss, in which the typical stroke workup has been unrevealing, investigation for hypercoagulable states is warranted.

Purpose: This study reports a case of transient monocular vision loss secondary to protein C deficiency in a patient with no known personal or family history of venous thromboembolism and highlights the eye care provider's role in helping with diagnosis of this condition. Read More

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[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree].

X Q Ma N Li R F Zhang

Zhonghua Jie He He Hu Xi Za Zhi 2021 Dec;44(12):1078-1084

Department of Respiratory and Critical Care Medicine, Zhongda Hospital Southeast University, Nanjing 210009, China.

A phenotypic and gene mutation study was carried out to investigate the molecular mechanism of inherited protein C deficiency in a family with the disorder. The proband was a 21-year-old male who was admitted to hospital due to swelling of the left lower limb for 3 months and hemoptysis with chest tightness for more than 1 week. The clinical diagnosis was pulmonary embolism and deep vein thrombosis of the left lower limb. Read More

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December 2021

Portal system thrombosis in an HIV-infected child.

Pawan Daga Ira Shah

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

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November 2021

Novel prenatal diagnosis of protein C deficiency and primary prophylaxis with protein C concentrate.

Thromb Res 2021 Dec 20;208:145-147. Epub 2021 Oct 20.

Children's Mercy Hospital, Kansas City, MO 64108, United States.

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December 2021

Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study.

Adv Hematol 2021 25;2021:8317605. Epub 2021 Oct 25.

Armed Forces Institute of Pathology, Rawalpindi, Pakistan.

Background: Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors. Where there are innumerable acquired causes, the possibility of inherited thrombophilia cannot be ignored. Read More

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October 2021

[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Nov;38(11):1101-1105

Department of Laboratory Medicine, the Second Affiliated Hospital of Wenzhou Medical University, Zhejiang 325088, China.

Objective: To analyze the phenotype and genetic variant in a pedigree affected with inherited protein C (PC) deficiency.

Methods: The proband and her family members (7 individuals from 3 generations) were tested for plasma protein C activity (PC:A), protein C antigen (PC:Ag) content and other coagulation indicators. All of the 9 exons and flanking sequences of the proband's PROC gene were amplified by PCR and sequenced. Read More

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November 2021

Surgical technique and the long-term outcomes of pediatric living donor domino liver transplantation from patients with maple syrup urine disease.

Pediatr Transplant 2022 Mar 23;26(2):e14174. Epub 2021 Oct 23.

Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.

Background: The native liver of patients with maple syrup urine disease (MSUD) (1st recipients) can be used as a graft for non-MSUD patients with end-stage liver disease (2nd recipients). This study aimed to demonstrate the optimal operational procedures and the long-term outcomes of 2nd recipients.

Methods: Six 2nd recipients of living donor domino liver transplantation (LD-DLT) (age: 42. Read More

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Inherited and acquired thrombophilia in women of Indian ethnicity with recurrent pregnancy loss: An observational study from North India.

Indian J Pathol Microbiol 2021 Oct-Dec;64(4):741-745

Department of Hematology, AIIMS, New Delhi, India.

Objectives: The spectrum of thrombophilia in women with recurrent pregnancy loss (RPL) is different in Indian ethnicity as reported by few studies. We aimed to study the prevalence of thrombophilia in RPL patients referred to hematology department of a tertiary centre.

Material And Methods: This is an observational study of 112 RPL patients with no apparent cause after extensive workup for non-hematological causes. Read More

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February 2022

Successful perioperative management using prothrombin complex concentrates in patients with severe congenital protein C deficiency.

Pediatr Blood Cancer 2022 01 19;69(1):e29380. Epub 2021 Oct 19.

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

Perioperative management of severe congenital protein C deficiency remains unestablished. This deficiency is often treated with anticoagulants, such as warfarin. Although anticoagulants need to be perioperatively discontinued, there are few methods for the management of such patients. Read More

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January 2022

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report.

BMC Pediatr 2021 10 16;21(1):453. Epub 2021 Oct 16.

Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.

Background: Severe protein C deficiency is a rare and inherited cause of thrombophilia in neonates. Protein C acts as an anticoagulant, and its deficiency results in vascular thrombosis. Herein, we report a case of protein C deficiency with a homozygous pathogenic variant in a term neonate, with good outcomes after proper treatment. Read More

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October 2021

Case Report: Successful Long-Term Management of a Low-Birth Weight Preterm Infant With Compound Heterozygous Protein C Deficiency With Subcutaneous Protein C Concentrate Up to Adolescence.

Front Pediatr 2021 28;9:591052. Epub 2021 Sep 28.

Department of Neonatology, Heidelberg University Children's Hospital, Heidelberg, Germany.

Homozygous/compound heterozygous forms of congenital protein C deficiency are often associated with severe antenatal and postnatal thrombotic or hemorrhagic complications. Protein C deficiency frequently leads to severe adverse outcomes like blindness and neurodevelopmental delay in children and may even lead to death. The most widely used long-term postnatal treatment consists of oral anticoagulation with vitamin K antagonists (e. Read More

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September 2021

Case Report: Cerebral venous thrombosis revealing celiac disease.

F1000Res 2021 28;10:680. Epub 2021 Jul 28.

Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital, Mahdia, 5100, Tunisia.

Celiac disease (CD) is an autoimmune enteropathy resulting from intolerance of an individual genetically predisposed to gluten. It has a large clinical polymorphism ranging from a classic digestive clinical presentation due to the malabsorption syndrome to extra-intestinal symptoms. Among the hematologic abnormalities, venous thromboembolic disease (VTE) has been reported, and they are most often located in the abdomen or lower limbs, but the cerebral localization was exceptionally described. Read More

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October 2021