keyword
MENU ▼
Read by QxMD icon Read
search

Fvii deficiency

keyword
https://www.readbyqxmd.com/read/29916836/homozygous-congenital-factor-vii-deficiency-with-a-novel-mutation-associated-with-severe-spontaneous-intracranial-bleeding-in-a-neonate
#1
Sebnem Kader, Mehmet Mutlu, Filiz Akturk Acar, Yakup Aslan, Aysenur Bahadır
OBJECTIVE: Herein, a neonate with congenital FVII deficiency is presented. BASIC METHOD: Diagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina). RESULT: Our patient was found to have a novel homozygous mutation. CONCLUSION: Early diagnosis and treatment of congenital FVII deficiency can be crucial.
June 18, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29876229/molecular-characterization-of-iranian-patients-with-inherited-coagulation-factor-vii-deficiency
#2
Shahbazi S, Mahdian R, Karimi K, Mashayekhi A
Coagulation factor VII (FVII) is a key enzyme of the extrinsic coagulation cascade that is predominantly produced by hepatocytes. The F7 gene mutations cause FVII deficiency with considerable molecular and phenotypic heterogeneity. We characterized the molecular alterations of the F7 gene and their corresponding mRNA transcripts in Iranian patients from eight unrelated families. The mutations were detected by polymerase chain reaction (PCR)-sequencing of all F7 gene exons, their flanking intronic sequences, as well as their corresponding cDNA fragments...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29868144/serendipitous-discovery-of-factor-vii-deficiency-and-the-ensuing-dilemma
#3
Nicoleta Aurelia Popescu, Jayadev M Umakanthan, Prajwal Dhakal, Krishna Gundabolu, Scott A Koepsell, Muhamed Baljevic
Congenital factor VII deficiency is a challenging disorder to manage, as it is associated with varied genotypes that do not clinically correlate with a bleeding phenotype. Individuals with severe factor VII deficiency (FVII: c <1%) might be asymptomatic, while patients with moderate deficiency (FVII: c level >5%) may experience severe hemorrhages. In modern medicine, due to extensive routine pre-operative laboratory testing, clinically asymptomatic patients without any bleeding history might be incidentally discovered, raising clinical dilemmas...
March 2018: Mædica
https://www.readbyqxmd.com/read/29765293/recurrent-bleedings-in-newborn-a-factor-vii-deficiency-case-report
#4
Kim Cattivelli, Cristina Distefano, Lorenza Bonetti, Sophie Testa, Simona Maria Siboni, Alessandro Plebani, Carlo Poggiani
Background: Major hemorrhages in newborns can be caused by several conditions, and knowledge of the differential diagnosis is essential in order to ensure prompt recognition and appropriate treatment. Case Report: We describe the case of a male newborn experiencing recurrent hemorrhages from the first days of life. Laboratory findings showed normal platelet count, hepatic function, and C-reactive protein. Coagulation tests detected an isolated prothrombin time (PT) prolongation and severe factor VII (FVII) deficiency...
April 2018: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/29665924/-analysis-of-phenotype-and-l12r-mutation-in-signal-peptide-and-3-non-translation-region-c11814-insaa-mutation-of-f7-gene-in-a-family-with-hereditary-coagulation-factor-vii-deficiency
#5
Shan Liu, Jing-Yu Zhang, Zheng-Rong Li, Yan Wang, Zhi-Yun Niu, Feng-Ru Lin
OBJECTIVE: To examine one young female patient with hereditary FVII deficiency and her family members, to observe the gene mutation and clinical phenotype, and to investigate the molecular mechanism of the dysfunction. METHODS: Prothrombin time (PT), activated partial thromoploastin time (APTT), fibrinogen (Fg) and FVII activity (FVII:C) and FVII antigen (FVII:Ag) were tested. The gene mutations were sought by DNA sequencing for all of the exons and flanks, 5' and 3' non-translation region of F7 gene...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29618153/activation-of-endoplasmic-reticulum-stress-and-unfolded-protein-response-in-congenital-factor-vii-deficiency
#6
Elisabeth Andersen, Maria Eugenia Chollet, Christiane Filion Myklebust, Mirko Pinotti, Francesco Bernardi, Ampaiwan Chuansumrit, Ellen Skarpen, Per Morten Sandset, Grethe Skretting
Congenital factor (F) VII deficiency is a bleeding disorder caused by a heterogeneous pattern of mutations in the F7 gene. Protein misfolding due to mutations is a strong candidate mechanism to produce the highly represented type I FVII deficiency forms, characterized by a concomitant deficiency of FVII antigen and activity. Misfolded proteins can accumulate within the endoplasmic reticulum (ER) causing ER stress with subsequent activation of the unfolded protein response (UPR). So far, there are limited data on this important issue in FVII deficiency...
April 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29476647/prenatal-diagnosis-in-rare-bleeding-disorders-an-unresolved-issue
#7
REVIEW
S Tabibian, M Shams, M Naderi, A Dorgalaleh
Intracranial haemorrhage (ICH) is the most dreadful complication, and the main cause of death among patients with rare bleeding disorders (RBD) and prenatal diagnosis (PND) is a preventative lifesaving program. A total of 39 PNDs were reported in the literature through a search on PubMed, EMBASE, SCOPUS and Web of Science databases, most often for congenital factor (F) XIII and FVII deficiencies and rarely in FX, FV deficiencies and afibrinogenemia. The main cause to request a PND is ICH and related morbidity and mortality...
February 24, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29368589/expanded-carrier-screening-and-preimplantation-genetic-diagnosis-in-a-couple-who-delivered-a-baby-affected-with-congenital-factor-vii-deficiency
#8
Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. METHODS: After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes...
January 24, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29251640/a-novel-factor-x-mutation-cys81-by-arg-and-a-reported-factor-vii-polymorphism-arg353-replaced-by-gln-co-occured-in-a-patient
#9
Yanhui Jin, Xiaoli Cheng, Jiayong Zheng, Hong Xia, Lihong Yang, Mingshan Wang
: Coagulation factor X and factor VII (FVII) are both very important components in blood coagulation. To study the molecular pathogenic mechanism of the inherited factor X and FVII deficiency, the factor X activity (FX:C) and FVII activity were tested with one-stage clotting methods. The factor X antigen and factor FVII antigen were tested with ELISA. All the exons, intron-exon boundaries and 5',3'-flanking regions of F10 and F7 genes were amplified by PCR with direct sequencing. The ClustalX software was used to analyze the conservative property of the mutation sites...
January 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29246447/factor-vii-deficiency-unveiling-the-cellular-and-molecular-mechanisms-underlying-three-model-alterations-of-the-enzyme-catalytic-domain
#10
Maria Eugenia Chollet, Elisabeth Andersen, Ellen Skarpen, Christiane F Myklebust, Christian Koehler, Jens Preben Morth, Ampaiwan Chuansumrit, Mirko Pinotti, Francesco Bernardi, Bernd Thiede, Per Morten Sandset, Grethe Skretting
Activated factor (F) VII is a vitamin K-dependent glycoprotein that initiates blood coagulation upon interaction with tissue factor. FVII deficiency is the most common of the rare congenital bleeding disorders. While the mutational pattern has been extensively characterized, the pathogenic molecular mechanisms of mutations, particularly at the intracellular level, have been poorly defined. Here, we aimed at elucidating the mechanisms underlying altered FVII biosynthesis in the presence of three mutation types in the catalytic domain: a missense change, a microdeletion and a frameshift/elongation, associated with severe or moderate to severe phenotypes...
March 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29235093/role-of-clinical-and-laboratory-parameters-for-treatment-choice-in-patients-with-inherited-fvii-deficiency-undergoing-surgical-procedures-evidence-from-the-ster-registry
#11
Matteo N D Di Minno, Mariasanta Napolitano, Alberto Dolce, Guglielmo Mariani
Perioperative bleeding is a major concern in patients with factor VII (FVII) deficiency. Evaluating data of 95 FVII-deficient patients undergoing 110 surgical procedures (61 major, 49 minor), we assessed the impact of type of surgery, bleeding phenotype and FVII coagulant activity (FVII:C) levels on perioperative replacement therapy (RT). Compared to those with higher FVII:C levels, patients with <3% FVII:C received a higher number of RT doses (8 vs. 2, P = 0·003) for a longer RT duration (3 days vs...
February 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29207137/in-vitro-expression-of-mutant-factor-vii-proteins-and-characterization-of-their-clinical-significance
#12
Amir Mashayekhi, Shirin Shahbazi, Mirdavood Omrani, Reza Mahdian
Factor VII (FVII) serves an essential role in the initiation of blood coagulation. Mutations in conserved residues within its serine protease domain may lead to dysregulated coagulation activity. The objective of the present study was to elucidate the impact of altering two conserved residues, H348R and S282R, on the functional properties of the FVII protein. The mutation‑harboring fragments were derived from genomic DNA of a FVII deficient patient. The fragments were integrated into a pcDNA vector containing FVII cDNA of HepG2 cells...
February 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#13
REVIEW
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29102389/coronary-artery-stenosis-treatment-in-aging-patients-with-inherited-factor-vii-deficiency-where-do-we-stand
#14
Mariasanta Napolitano, Sergio Siragusa
Aging with rare bleeding disorders such as factor VII (FVII) deficiency poses several challenges to treatment because of the occurrence of cerebral and cardiovascular age-related comorbidities and high bleeding risks. We report a case of long-term treatment with antiplatelet agents and contemporary prophylaxis of bleeding in a woman affected by severe FVII deficiency diagnosed with symptomatic coronary artery stenosis. Information on the management of antithrombotic treatment in rare bleeding disorders is lacking and mainly limited to anecdotal reports or side effects secondary to replacement therapy...
December 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29035661/outcome-of-laparoscopic-ovariohysterectomy-or-ovariectomy-in-dogs-with-von-willebrand-disease-or-factor-vii-deficiency-20-cases-2012-2014
#15
Thomas P Keeshen, J Brad Case, Jeffrey J Runge, Ameet Singh, Philipp D Mayhew, Michele A Steffey, William T N Culp
OBJECTIVE To describe surgical techniques and perioperative management of dogs with von Willebrand disease (VWD) or factor VII (FVII) deficiency undergoing laparoscopic ovariohysterectomy or ovariectomy and evaluate outcomes. DESIGN Retrospective case series. ANIMALS 20 client-owned dogs with VWD (n = 16) or FVII deficiency (4). PROCEDURES Dogs with VWD or FVII deficiency that underwent laparoscopic ovariohysterectomy or ovariectomy between 2012 and 2014 were retrospectively identified via a multi-institutional review of medical records...
November 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28969734/cerebral-venous-sinus-thrombosis-in-a-patient-with-undiagnosed-factor-vii-deficiency
#16
Hira Qadir, Anila Rashid, Salman Naseem Adil
Factor VII (FVII) deficiency is one of the rare inherited bleeding disorders. Thrombosis has been occasionally described in inherited FVII deficiency. Here, we report a young female with undiagnosed FVII deficiency who presented with cerebral venous sinus thrombosis (CVST). Oral contraceptive pill was found to be prothrombotic risk factor. The CVSToccurred in spite of the congenital FVII deficiency indicating that no definitive antithrombotic protection is assured by this defect. Low molecular weight heparin and anti-Xa assay were found to be safe choice of anticoagulation and monitoring, respectively, in this patient...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28969316/perioperative-management-of-rare-coagulation-factor-deficiency-states-in-cardiac-surgery
#17
E R Strauss, M A Mazzeffi, B Williams, N S Key, K A Tanaka
Rare bleeding disorders (RBDs) include the hereditary deficiency of fibrinogen, factor (F)II, FV, FV + FVIII, FVII, FX, FXI or FXIII. RBDs do not confer a protective effect against atheromatous plaque formation, and thus the need for cardiovascular (CV) surgery in RBD patients is expected to increase with improved healthcare access (diagnosis and management) and longevity of the population. Clinical data regarding the management of RBDs in this setting are sparse, but the perioperative care team is obliged to gain a better understanding on available biological and pharmacological hemostatic agents...
September 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28684918/genotype-and-phenotype-correlation-in-intracranial-hemorrhage-in-neonatal-factor-vii-deficiency-among-thai-children
#18
Chanchai Traivaree, Chalinee Monsereenusorn, Arunotai Meekaewkunchorn, Premsak Laoyookhong, Saranya Suwansingh, Boonchai Boonyawat
Congenital factor VII (FVII) deficiency is a rare inherited coagulopathy. The clinical manifestations and clinical findings vary widely, ranging from asymptomatic to life-threatening bleeding, including intracranial hemorrhage (ICH), with prolonged prothrombin time, normal partial thromboplastin time and normal platelet counts, which are confirmed by the low level of FVII assay. Treatment consists of fresh frozen plasma (FFP), prothrombin complex concentrates (PCCs), and recombinant activated FVII to treat bleeding and prophylactic therapy...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28496540/recombinant-factor-viia-use-for-endoscopic-retrograde-cholangiopancreatography-with-sphincterotomy-in-a-patient-with-choledocholithiasis-and-unusual-coagulopathy
#19
Molham Abdulsamad, Pavithra Reddy, Suvarna Guvvala, Anil Dev
Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that combines the use of endoscopy and fluoroscopy to diagnose and treat pancreaticobiliary disorders. The risks of ERCP include pancreatitis, infection, bleeding and perforation. Bleeding during ERCP typically develops after sphincterotomy, hence patients should be screened and tested for coagulopathy before undergoing ERCP. Coagulopathy is a major risk factor for ERCP-related bleeding. Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder that can lead to significant coagulopathy and severe bleeding if not appropriately recognized and treated preoperatively...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28462681/warfarin-management-in-the-setting-of-fvii-deficiency-and-mechanical-circulatory-support
#20
Christin DeStefano, Katelyn Sylvester, Jean Connors, Farooq Sheikh, Joseph Catlett
No abstract text is available yet for this article.
April 1, 2017: Vascular Medicine
keyword
keyword
41097
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"