1,988 results match your criteria Protein C Deficiency


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

J Pediatr Hematol Oncol 2019 Mar 15. Epub 2019 Mar 15.

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

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

Pediatr Blood Cancer 2019 Mar 5: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
March 2019
4 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
8 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
11 Reads

Protein C Deficiency.

Arch Pathol Lab Med 2019 Jan 31. Epub 2019 Jan 31.

From the Department of Pathology, Saint Louis University School of Medicine, St Louis, Missouri. Dr Moser is now with the Department of Pathology, University of Utah/ARUP Laboratories, Salt Lake City.

Protein C (PC) deficiency is a heritable or acquired risk factor for thrombophilia, with presentations varying from asymptomatic to venous thromboembolism to neonatal purpura fulminans, a life-threatening disorder. Hereditary PC deficiency is caused by mutation in the PC ( PROC) gene located on chromosome 2q14.3. Read More

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http://dx.doi.org/10.5858/arpa.2017-0403-RSDOI Listing
January 2019
3 Reads

Recurrent superficial venous thrombophlebitis because of mutations in the protein C and fibrinogen genes in a young Argentinian female.

Blood Coagul Fibrinolysis 2019 Mar;30(2):80-84

Laboratorio de Hematología, Sanatorio Allende.

: Hypodysfibrinogenemia and protein C deficiency are coagulopathies and in this report, we describe a young patient with both defects confirmed by molecular genetic tests. The patient was a 24-year-old woman referred for recurrent thrombophlebitis and finally deep venous thrombosis. Routine coagulation studies revealed mild decrease of protein C (0. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000790DOI Listing
March 2019
5 Reads

[A case of recurrent cerebral vein thrombosis with protein C gene mutation identified].

Rinsho Shinkeigaku 2018 Dec 29;58(12):764-766. Epub 2018 Nov 29.

Department of Neurology, Saga-ken Medical Centre Koseikan.

We reported a 31-year-old man with recurrent cerebral venous thrombosis caused by congenital protein C deficiency. He was diagnosed with cerebral venous thrombosis before 7 months. He was transferred to our hospital with numbness of right hand and right side of face, and dysarthria. Read More

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https://www.jstage.jst.go.jp/article/clinicalneurol/advpub/0
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http://dx.doi.org/10.5692/clinicalneurol.cn-001221DOI Listing
December 2018
13 Reads

American Society of Hematology 2018 Guidelines for management of venous thromboembolism: treatment of pediatric venous thromboembolism.

Blood Adv 2018 Nov;2(22):3292-3316

Department of Biostatistics and Epidemiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK.

Background: Despite an increasing incidence of venous thromboembolism (VTE) in pediatric patients in tertiary care settings, relatively few pediatric physicians have experience with antithrombotic interventions.

Objective: These guidelines of the American Society of Hematology (ASH), based on the best available evidence, are intended to support patients, clinicians, and other health care professionals in their decisions about management of pediatric VTE.

Methods: ASH formed a multidisciplinary guideline panel that included 2 patient representatives and was balanced to minimize potential bias from conflicts of interest. Read More

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http://www.bloodadvances.org/lookup/doi/10.1182/bloodadvance
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http://dx.doi.org/10.1182/bloodadvances.2018024786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258911PMC
November 2018
21 Reads

A study of clinical, radiological and etiological profile of cerebral venous sinus thrombosis at a tertiary care center.

Med J Armed Forces India 2018 Oct 16;74(4):326-332. Epub 2017 Dec 16.

Resident (Medicine), INHS Asvini, Mumbai, India.

Background: A prospective, observational study was done at a tertiary care hospital in Western Maharashtra to describe the etiologies, clinical features, diagnosis and prognosis of cerebral venous sinus thrombosis in an Indian population.

Methods: 54 patients with clinical and MRI features suggestive of cerebral venous sinus thrombosis (CVST), were studied with detailed clinical evaluation and pro-thrombotic work up. All were followed up monthly for 6 months, to assess the response to therapy and clinical outcomes. Read More

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http://dx.doi.org/10.1016/j.mjafi.2017.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224650PMC
October 2018
10 Reads

Protein C deficiency (a novel mutation: ala291Thr) with systemic lupus erythematosus leads to the deep vein thrombosis.

Blood Coagul Fibrinolysis 2018 Dec;29(8):714-719

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

: The current study aims to explore the phenotype and genotype of a mutation Ala291Thr, which responsible for type I protein C (PC) deficiency in a Chinese woman. The PROC antigen was tested with chromogenic substrate method. PROC gene were amplified by PCR with direct sequencing. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000778DOI Listing
December 2018
13 Reads

Diagnostic challenge of the newborn patients with heritable protein C deficiency.

J Perinatol 2019 Feb 23;39(2):212-219. Epub 2018 Oct 23.

Comprehensive Maternity and Perinatal Care Center, Kyushu University Hospital, Fukuoka, Japan.

Abstarct: OBJECTIVE: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan.

Study Design: We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry. Read More

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http://www.nature.com/articles/s41372-018-0262-0
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http://dx.doi.org/10.1038/s41372-018-0262-0DOI Listing
February 2019
12 Reads

Qualitative protein C deficiency due to PROC c.577_579delAAG mutation not detected by chromogenic assays: A case of intractable cerebral sinovenous thrombosis.

Pediatr Blood Cancer 2019 Jan 25;66(1):e27443. Epub 2018 Sep 25.

CHOC Children's Specialists, Division of Hematology, Orange, California.

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http://doi.wiley.com/10.1002/pbc.27443
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http://dx.doi.org/10.1002/pbc.27443DOI Listing
January 2019
5 Reads

Intracranial Atherosclerosis Versus Primary Angiitis of the Central Nervous System: a Case Report.

Cureus 2018 Jul 23;10(7):e3031. Epub 2018 Jul 23.

Ross University School of Medicine, California Hospital Medical Center, Los Angeles, USA.

Primary angiitis of the central nervous system (PACNS) is a rare disease with various clinical presentations. It is the preferred name for vasculitis that is confined to the central nervous system (CNS) and is often considered a diagnosis of exclusion in vascular or inflammatory CNS diseases. This case describes a 46-year-old right-handed female with a past medical history of hypertension (HTN), hyperlipidemia (HLD), diabetes mellitus type two (DM2), obesity, and hemorrhagic stroke who was transferred from an outside facility after a one-month hospitalization to be evaluated for CNS vasculitis. Read More

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http://dx.doi.org/10.7759/cureus.3031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150750PMC
July 2018
3 Reads

Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35-year-old woman: A case report and genetic study on the pedigree.

Exp Ther Med 2018 Sep 25;16(3):2677-2681. Epub 2018 Jul 25.

Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, P.R. China.

Deficiency of protein C may cause deep venous thrombosis and pulmonary embolism, leading to ischemic stroke. The present study reports on a case of a young adult with recurrent cerebellar infarction due to hereditary heterozygous protein C deficiency and performs a literature review. A 35-year-old Asian woman was admitted t o the Department of Neurology of The First Affiliated Hospital of Guangxi Medical University (Nanning, China) due to right limb paralysis and vomiting. Read More

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http://www.spandidos-publications.com/10.3892/etm.2018.6518
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http://dx.doi.org/10.3892/etm.2018.6518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122579PMC
September 2018
11 Reads

Aortic Mural Thrombus in the Non-atherosclerotic Aorta of Patients with Multiple Hypercoagulable Factors.

Intern Med 2019 Feb 12;58(3):381-385. Epub 2018 Sep 12.

Department of Cardiology, Toyonaka Municipal Hospital, Japan.

An aortic mural thrombus (AMT) on a non-atherosclerotic wall is a rare but important cause of arterial thromboembolism. We herein report two cases of AMT in the thoracic aorta. Both showed multiple hypercoagulable factors (case 1: protein S deficiency and positive finding of anti-cardiolipin antibody; case 2: protein C deficiency, gastric cancer, and cisplatin-based chemotherapy) and were successfully treated with anticoagulation. Read More

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http://dx.doi.org/10.2169/internalmedicine.0691-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395124PMC
February 2019
4 Reads

An Infant with Tachypnea and Failure to Thrive.

J Pediatr 2018 12 31;203:459-459.e1. Epub 2018 Aug 31.

Division of Hospital Medicine Department of Pediatrics Cincinnati Children's Hospital Medical Center; Department of Pediatrics University of Cincinnati College of Medicine Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jpeds.2018.07.064DOI Listing
December 2018
12 Reads

In-stent thrombosis after carotid artery stenting in a patient with protein C deficiency.

Neurol Sci 2018 Dec 25;39(12):2229-2230. Epub 2018 Aug 25.

Department of Stroke Medicine, Kawasaki Medical School, 577, Matsushima, Kurashiki, Okayama, 701-0192, Japan.

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http://dx.doi.org/10.1007/s10072-018-3544-6DOI Listing
December 2018
3 Reads

An Audit of Thrombophilia Testing in Patients with Ischemic Stroke or Transient Ischemic Attack: The Futility of Testing.

J Stroke Cerebrovasc Dis 2018 Nov 22;27(11):3301-3305. Epub 2018 Aug 22.

Department of Pathology, Division of Transfusion Medicine and Hemostasis, University of Texas Southwestern Medical Center, Dallas, Texas. Electronic address:

Objectives: Many patients admitted with an ischemic stroke or transient ischemic attack (TIA) undergo thrombophilia testing. There is limited evidence to support this practice. We examined the effect of thrombophilia testing on management of patients admitted with an ischemic stroke or TIA. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.07.032DOI Listing
November 2018
15 Reads

Protein C Deficiency Causing Recurrent Myocardial Infarction in a Young Male.

Mymensingh Med J 2018 Jul;27(3):658-664

Dr Abdul Wadud Chowdhury, Professor & Head, Department of Cardiology, Dhaka Medical College & Hospital (DMCH), Dhaka, Bangladesh; E-mail:

Protein C is one of the most important factors that prevent blood from clotting. Protein C deficiency usually leads to venous thrombosis. We intend to report a male of 38 years admitted in coronary care unit of Dhaka Medical College Hospital, who suffered recurrent episodes of myocardial infarction, whose traditional risk factors were well controlled. Read More

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July 2018
3 Reads

Prothrombotic markers in Thalassemia major patients: A paradigm shift.

Med J Malaysia 2018 Aug;73(4):185-189

Liaquat National Hospital and Medical College, Department of Biostatics, Karachi, Pakistan.

Background: It is being increasingly recognised that thalassemia major patients, like intermedia, have increased propensity for thromboembolism. Deficiency of natural anticoagulants is more recently defined finding contributing to the hypercoagulable state. The aim this study is to determine natural anticoagulants levels and their correlation with maternal characteristics, haematological and biochemical markers. Read More

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August 2018
17 Reads

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Respir Med Case Rep 2018 19;25:91-95. Epub 2018 Jul 19.

Department of Medicine, Columbia University Medical Center, USA.

Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable prognosis and severity that usually presents in infancy. We present the case of a patient with diffuse lung disease who was successfully treated with hydroxychloroquine and steroids in infancy, who presented again as a young adult with respiratory symptoms. Exome sequencing identified a novel mutation (c. Read More

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http://dx.doi.org/10.1016/j.rmcr.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080219PMC
July 2018
5 Reads

Non-genetic and genetic risk factors for adult cerebral venous thrombosis.

Thromb Res 2018 09 6;169:15-22. Epub 2018 Jul 6.

Institute of Cardiovascular Research, Royal Holloway, University of London (ICR2UL), Egham, United Kingdom. Electronic address:

Introduction: A wide variety of non-genetic and genetic factors have been shown to associate with increased risk for cerebral venous thrombosis (CVT). However, there is a paucity of risk factor data and conclusions about their impact are often conflicting. Herein, we quantified the associations of non-genetic and genetic risk factors for CVT in adults. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00493848183041
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http://dx.doi.org/10.1016/j.thromres.2018.07.005DOI Listing
September 2018
23 Reads

Streptococcus pyogenes-purpura fulminans as an invasive form of group A streptococcal infection.

Ann Clin Microbiol Antimicrob 2018 Jul 9;17(1):31. Epub 2018 Jul 9.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Background: Streptococcus pyogenes is an uncommon pathogen of purpura fulminans, and the pathogenesis of S. pyogenes-purpura fulminans remains unclear because of paucity of cases. We reported a pediatric case of S. Read More

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http://dx.doi.org/10.1186/s12941-018-0282-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036671PMC
July 2018
9 Reads

A case of portal vein thrombosis caused by blunt abdominal trauma in a patient with low protein C activity.

Clin J Gastroenterol 2018 Dec 19;11(6):507-513. Epub 2018 Jun 19.

Department of Surgery, The Jikei University School of Medicine, 3-19-18 Nishi-shinbashi, Minato-ku, Tokyo, 105-8471, Japan.

Portal vein thrombosis (PVT) is caused by several conditions including infection, malignancies, surgery, medications, and coagulation disorders. However, PVT caused by low-energy injury is very rare. A 51-year-old man visited a clinic with a 2-day history of abdominal pain following blunt abdominal trauma. Read More

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http://link.springer.com/10.1007/s12328-018-0879-8
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http://dx.doi.org/10.1007/s12328-018-0879-8DOI Listing
December 2018
3 Reads

Pattern of Vascular Involvement in Egyptian Patients with Budd-Chiari Syndrome: Relation to Etiology and Impact on Clinical Presentation.

Ann Hepatol 2018 July - August ,;17(4):638-644

Department of Radiodiagnosis and Interventional Radiology, Ain Shams University, Cairo, Abbasia, Egypt.

Introduction And Aim: Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction. This work aims to analyze the pattern of vascular involvement in Egyptian patients with BCS, demonstrates its relation to etiology and shows its impact on clinical presentation.

Material And Methods: The current retrospective study was conducted at The Tropical Medicine Department, Ain Shams University on one hundred Egyptian patients with confirmed diagnosis of primary BCS who were presented to the Budd-Chiari Study Group (BCSG) from April 2014 to May 2016 by collecting clinical, laboratory and radiological data from their medical records. Read More

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http://dx.doi.org/10.5604/01.3001.0012.0933DOI Listing
June 2018
9 Reads

Postpartum spontaneous renal blood vessel rupture followed by pulmonary artery thromboembolism associated with protein C deficiency.

J Obstet Gynaecol 2018 Jun 8:1-3. Epub 2018 Jun 8.

a Department of Obstetrics and Gynecology, School of Medicine , Catholic University of Daegu , Gyeongsan , South Korea.

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http://dx.doi.org/10.1080/01443615.2018.1460745DOI Listing
June 2018
1 Read

The relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome.

Eur Rev Med Pharmacol Sci 2018 May;22(9):2742-2750

Department of Vascular Surgery, First Affiliated Hospital of Bengbu Medical College, Bengbu, China.

Objective: Budd-Chiari syndrome (BCS) is a life-threatening hepatic disease characterized by hepatic venous obstruction at the level of hepatic vein, hepatic venules, or inferior vena cava. No evidence reported the relationship between the endothelial progenitor cells and the deficiency of factor V Leiden and protein C in patients with primary Budd-Chiari syndrome.

Patients And Methods: We recruited participants between June 2014 and July 2015. Read More

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http://dx.doi.org/10.26355/eurrev_201805_14971DOI Listing
May 2018
9 Reads

What About Having a Hydropneumothorax Every Month?

Rev Port Cir Cardiotorac Vasc 2017 Jul-Dec;24(3-4):145

Centro Hospitalar São João, Portugal.

Introduction: Endometriosis is a pathological, benign, inflammatory condition characterized by the presence of endometrial glands and stroma outside the uterine cavity, typically in the pelvis. In rare conditions, this estrogen-dependent disease may be extrapelvic, presenting with a variety of symptoms, including Thoracic Endometriosis.

Methods: A 37 year-old woman presented with her third right hydropneumothorax in three months. Read More

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July 2017
6 Reads

Cerebral Sinus Venous Thrombosis and Prothrombotic Risk Factors in Children: A Single-Center Experience From Turkey.

J Pediatr Hematol Oncol 2018 08;40(6):e369-e372

Department of Pediatrics, Division of Pediatric Hematology Oncology.

Background: Cerebral sinus venous thrombosis (CSVT) is a rare cerebrovascular disease that may be life-threatening, especially in children.

Objective: The purpose of this study was to assess the clinical presentation, radiologic imaging, underlying conditions, treatment, and outcomes of children with CSVT.

Patients And Methods: In total, 23 consecutive children aged between 1 month to 18 years with CSVT, who were followed-up in Erciyes University Children's Hospital, were retrospectively enrolled in the study from January 2000 to December 2016. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001149DOI Listing
August 2018
6 Reads

Slow Elevation in Protein C Activity without a Mutation in a Neonate with Intracranial Hemorrhage.

AJP Rep 2018 Apr 12;8(2):e68-e70. Epub 2018 Apr 12.

Department of Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.

Severe protein C (PC) deficiency leads to purpura fulminans and stroke in newborns. However, the clinical impact of plasma PC activity on the development of neonatal cerebral disease remains elusive. We report a case of hemorrhagic stroke associated with neonatal asphyxia and severe PC deficiency. Read More

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http://dx.doi.org/10.1055/s-0038-1639614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897120PMC
April 2018
8 Reads

Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome.

Ann Biol Clin (Paris) 2018 Apr;76(2):217-223

Service d'hématologie biologique, Hôpital Lariboisière, AP-HP, Paris, France.

Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins. We report here the case of a 28-year-old patient with CDG syndrome type Ia, who presented with a deep venous thrombosis in the left suro-popliteal vein with no known triggers or antecedents. The patient was treated with rivaroxaban for six months. Read More

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http://dx.doi.org/10.1684/abc.2018.1324DOI Listing
April 2018
10 Reads

Neonatal Purpura Fulminans, a rare genetic disorder due to protein C deficiency: A case report.

J Pak Med Assoc 2018 Mar;68(3):463-465

The Aga Khan University Hospital.

Neonatal Purpura Fulminans is a rare and fatal disorder associated with perivascular haemorrhage and disseminated intravascular coagulation. Early clinical recognition, timely investigation and treatment is utmost important. A 6 days old baby boy was brought to emergency with blackish ulcers all over the body. Read More

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March 2018
8 Reads

Asymptomatic Isolated Calf Deep Vein Thrombosis: Does It Worsen after Varicose Vein Surgery?

Ann Vasc Dis 2017 Dec;10(4):364-370

The Vein & Vascular Center, Aisei Hospital, Tokyo, Japan.

In our varicose vein center, on a trial basis, among the patients with asymptomatic calf deep vein thrombosis (CDVT) we carefully selected the patients for varicose vein surgery using the requirements as follows; 1) the patients had varicose veins with incompetent saphenous veins, 2) sequential examination including DUS confirmed stability and clinical insignificance of asymptomatic CDVT, 3) the patients do not have any risk factors for DVT such as a coagulation profile disorder (antithrombin deficiency, protein C deficiency, protein S deficiency, or antiphospholipid syndrome) or malignancies, 4) surgery is possible under local anesthesia alone, and 5) the patients can understand the concept of asymptomatic CDVT and undergo the surgery on their own will and informed consent. The patients who fulfilled these conditions underwent the varicose vein surgery. Twenty-eight patients with 30 limbs with varicose veins had asymptomatic CDVT, found by preoperative duplex ultrasonography (DUS). Read More

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http://dx.doi.org/10.3400/avd.oa.17-00104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835441PMC
December 2017
6 Reads

Protein C deficiency resulting from two mutations in presenting with recurrent venous thromboembolism.

J Vasc Surg Cases Innov Tech 2017 Dec 18;3(4):254-256. Epub 2017 Dec 18.

Department of Vascular Surgery, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in (c. Read More

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http://dx.doi.org/10.1016/j.jvscit.2017.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765183PMC
December 2017
3 Reads

Homozygous protein C deficiency presenting as neonatal purpura fulminans: management with fresh frozen plasma, low molecular weight heparin and protein C concentrate.

J Thromb Thrombolysis 2018 Feb;45(2):315-318

Division of Pediatric Hematology-Oncology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Purpura fulminans in neonates is a rapidly progressive thrombotic disorder manifesting as hemorrhagic skin infarction and disseminated intravascular coagulation. Being inherited in an autosomal dominant manner, it is a medical emergency. Clinical presentations of patients may vary depending on the genetic mutations. Read More

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http://dx.doi.org/10.1007/s11239-017-1606-xDOI Listing
February 2018
12 Reads

Myocardial infarction and thrombophilia: Do not miss the right diagnosis!

Rev Port Cardiol 2018 Jan 15;37(1):89.e1-89.e4. Epub 2017 Dec 15.

Centre Hospitalier Universitaire (CHU) de Rennes, Service de Cardiologie et Maladies Vasculaires, Rennes, France; Université de Rennes 1, Laboratoire Traitement du Signal et de l'Image (LTSI), Rennes, France; Institut National de la Santé et de la Recherche Médicale (Inserm), Rennes, France.

Protein C deficiency is a coagulation cascade disorder often resulting in venous thromboembolic events but is also a possible contributor to arterial thrombosis. To date, approximately ten cases of myocardial infarction (MI) due to protein C deficiency have been reported in the literature. However, affirming this mechanism requires ruling out the most common causes of MI, i. Read More

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http://dx.doi.org/10.1016/j.repc.2016.12.018DOI Listing
January 2018
6 Reads

Association Between Hypercoagulable Conditions and Calciphylaxis in Patients With Renal Disease: A Case-Control Study.

JAMA Dermatol 2018 Feb;154(2):182-187

Department of Dermatology, Massachusetts General Hospital, and Harvard Medical School, Boston.

Importance: Calciphylaxis is a rare skin disease with high morbidity and mortality that frequently affects patients with renal disease. Hypercoagulable conditions are frequently observed in both patients with calciphylaxis and those with chronic kidney disease (CKD), complicating our understanding of which hypercoagulable conditions are specific to calciphylaxis.

Objective: To identify hypercoagulable conditions that are risk factors for developing calciphylaxis while controlling for CKD. Read More

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamadermatol.2017.4920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839276PMC
February 2018
16 Reads

Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor.

Am J Hematol 2018 03 25;93(3):462-466. Epub 2018 Jan 25.

Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center and the University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajh.24998DOI Listing
March 2018
9 Reads

Purpura Fulminans: Mechanism and Management of Dysregulated Hemostasis.

Transfus Med Rev 2018 04 16;32(2):69-76. Epub 2017 Oct 16.

Harvard Medical School, Boston, MA; Division of Hematology, Massachusetts General Hospital, Boston, MA; Blood Transfusion Service, Massachusetts General Hospital, Boston, MA. Electronic address:

Purpura fulminans (PF) is a highly thrombotic subtype of disseminated intravascular coagulation that can accompany severe bacterial, and more rarely, viral infections. PF is associated with an extremely high mortality rate, and patients often die of overwhelming multisystemic thrombosis rather than septic shock. Survivors typically experience amputation of involved extremities and significant scarring in affected areas. Read More

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http://dx.doi.org/10.1016/j.tmrv.2017.10.001DOI Listing
April 2018
18 Reads

Protein C Deficiency Caused by a Novel Mutation in the Gene in an Infant with Delayed Onset Purpura Fulminans.

Case Rep Dermatol Med 2017 26;2017:8915608. Epub 2017 Sep 26.

Division of Clinical Genetic and Metabolic Disorders, Tawam Hospital, P.O. Box 15258, Al-Ain, UAE.

Protein C is an anticoagulant that is encoded by the gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern. Autosomal dominant PCD is caused by monoallelic mutations in and often presents with venous thromboembolism. Read More

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http://dx.doi.org/10.1155/2017/8915608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634577PMC
September 2017
9 Reads

Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis.

BMJ 2017 Oct 26;359:j4452. Epub 2017 Oct 26.

Department of Hematology, Erasmus University Medical Centre, Postbus 2040, 3000 CA, Rotterdam, Netherlands.

 To provide evidence to support updated guidelines for the management of pregnant women with hereditary thrombophilia in order to reduce the risk of a first venous thromboembolism (VTE) in pregnancy. Systematic review and bayesian meta-analysis. Embase, Medline, Web of Science, Cochrane Library, and Google Scholar from inception through 14 November 2016. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657463PMC
http://dx.doi.org/10.1136/bmj.j4452DOI Listing
October 2017
20 Reads

[A Case Report of Congenital Protein C Deficiency with Cerebral Venous Sinus Thrombosis during Early Pregnancy Period].

No Shinkei Geka 2017 Oct;45(10):913-918

Department of Neurosurgery, Tokushima Red Cross Hospital.

A 35-year-old woman at eight weeks of gestation in her second pregnancy presented with generalized seizures. Magnetic resonance images revealed a small hemorrhagic infarction in the left frontal lobe, and magnetic resonance venography indicated cerebral venous sinus thrombosis. After hospitalization, anticoagulant therapy was continued, and a low protein C level was confirmed, which was also confirmed in both her mother and her sister. Read More

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https://webview.isho.jp/journal/detail/abs/10.11477/mf.14362
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http://dx.doi.org/10.11477/mf.1436203617DOI Listing
October 2017
8 Reads

The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms.

PLoS One 2017 17;12(10):e0185785. Epub 2017 Oct 17.

Division of Cardiology, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Background: Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We investigated the incidence and clinical characteristics of HT in Korean patients with unprovoked venous thromboembolism (VTE). Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0185785PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645010PMC
October 2017
30 Reads

Acute Anorectal Thrombophlebitis Caused by a Protein C Deficiency.

Intern Med 2018 Jan 16;57(2):209-212. Epub 2017 Oct 16.

Department of Gastroenterology and Hepatology, Graduate School of Medicine, Kyoto University, Japan.

A 46-year-old man visited the emergency department of our hospital with a 3-day history of anal pain, hemorrhaging, and a slight fever. He had previously been diagnosed with protein C deficiency and was prescribed dabigatran, a direct oral anticoagulant. Contrast-enhanced computed tomography showed severe rectal wall thickening with partial defect of enhancement. Read More

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http://dx.doi.org/10.2169/internalmedicine.9131-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820038PMC
January 2018
4 Reads

The importance of bilateral monitoring of cerebral oxygenation (NIRS): Clinical case of asymmetry during cardiopulmonary bypass secondary to previous cerebral infarction.

Rev Esp Anestesiol Reanim 2018 Mar 27;65(3):165-169. Epub 2017 Sep 27.

Departamento de Anestesiología, Reanimación y Cuidados Críticos, Hospital Universitario Infantil La Paz, Madrid, España.

Cerebral oximetry based on near infrared spectroscopy (NIRS) technology is used to determine cerebral tissue oxygenation. We hereby present the clinical case of a 12-month old child with right hemiparesis secondary to prior left middle cerebral artery stroke 8 months ago. The child underwent surgical enlargement of the right ventricular outflow tract (RVOT) with cardiopulmonary bypass. Read More

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http://dx.doi.org/10.1016/j.redar.2017.06.008DOI Listing
March 2018
1 Read

Identification of target gene of venous thromboembolism in patients with lymphoma via microarray analysis.

Oncol Lett 2017 Sep 20;14(3):3313-3318. Epub 2017 Jul 20.

Department of Lymphoma, Sino-US Center of Lymphoma and Leukemia, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, P.R. China.

Patients with lymphoma are at high risk of developing venous thromboembolism (VTE). The purpose of the present study was to identify the target gene associated with VTE for patients with lymphoma. Microarray data was downloaded from the gene expression omnibus database (GSE17078), which comprised the control group, 27 normal blood outgrowth endothelial cell (BOEC) samples, and the case group, 3 BOEC samples of venous thrombosis with protein C deficiency. Read More

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http://dx.doi.org/10.3892/ol.2017.6625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588007PMC
September 2017
17 Reads

[Vitamin K antagonist-induced necrotic leg ulcer, without protein C and S deficiencies].

Rev Med Interne 2018 Jan 1;39(1):50-53. Epub 2017 Sep 1.

Service de dermatologie, centre hospitalier Victor-Dupouy, 69, rue du Lieutenant-Colonel-Prudhon, 95100 Argenteuil, France.

Introduction: Patients treated by vitamin K antagonists (VKA) represent 1% of the population in France. We report a case of atypical necrotic leg ulcers induced by VKA.

Case Report: A 84-year-old woman was referred to our dermatology department because of necrotic leg ulcers that developed for the past 5weeks, and appeared spontaneously after the introduction of a VKA, fluindione. Read More

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http://dx.doi.org/10.1016/j.revmed.2017.08.001DOI Listing
January 2018
6 Reads

Adverse pregnancy outcomes and inherited thrombophilia.

J Perinat Med 2018 May;46(4):411-417

Chair and Department of Obstetrics and Perinatology, Medical University of Lublin, Lublin, Poland.

Aim: (1) To evaluate the prevalence of inherited thrombophilia in pregnant women with adverse pregnancy outcomes: intrauterine growth retardation (IUGR), preeclampsia (PE) and placental abruption. (2) To assess the impact of inherited thrombophilia on the nature of obstetric complications. (3) To assess levels of protein S, protein C, antithrombin III and homocysteine in pregnant women with adverse pregnancy outcomes. Read More

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http://dx.doi.org/10.1515/jpm-2017-0059DOI Listing
May 2018
43 Reads