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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-247687

RESUMO

<p><b>OBJECTIVE</b>To identify potential mutation underlying coagulation factor X (FX) deficiency in a consanguineous Chinese pedigree.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FX activity (FX:C) and other coagulant parameters were determined with a one-stage clotting assay. The FX antigen (FX:Ag) was determined with an ELISA assay. All coding exons and exon-intron boundaries of the F10 gene were amplified with PCR and subjected to direct sequencing. Suspected mutation was confirmed by reverse sequencing and analyzed with CLC Genomics Workbench 7.5 software.</p><p><b>RESULTS</b>The PT and APTT in the proband were prolonged to 67.2 s and 102.9 s, respectively. Further study showed that her FX:C and FX:Ag were reduced by 1% and 8%, respectively. The PT of her father, mother, and little brother were slightly prolonged to 14.5 s, 14.4 s and 14.4 s, respectively. The FX:C and FX:Ag in her father, mother and little brother were all slightly reduced. Genetic analysis of the proband has revealed a homozygous G>A change at nucleotide 27881 in exon 8 of the F10 gene, which predicted a p.Val298Met substitution. The proband's father, mother, and little brother were all heterozygous for the p.Val298Met mutation. The proband has inherited the homozygous mutation from her parents by consanguineous marriage. Other family members were all normal. Bioinformatics analysis has indicated that this mutation may result in changes in the secondary structure of the FX protein.</p><p><b>CONCLUSION</b>A homozygous mutation g.27881G>A(p.Val298Met) of the F10 gene has been identified, which probably accounts for the low FX concentrations in this pedigree.</p>


Assuntos
Adulto , Sequência de Aminoácidos , Consanguinidade , Fator X , Genética , Deficiência do Fator X , Genética , Feminino , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Tempo de Protrombina
2.
Rev. méd. Chile ; 143(11): 1490-1493, nov. 2015. tab
Artigo em Espanhol | LILACS (Américas) | ID: lil-771738

RESUMO

Bleeding disorders are commonly associated with hemato-oncologic diseases. We report a 68 years old male with a chronic myelomonocytic leukemia derived from a long lasting mielodysplastic syndrome that did not respond to treatment with Azacitidine. The patient was hospitalized due to tonic clonic seizures. A CAT scan showed a hematoma in the frontal lobe. A new assessment of hemostasis revealed an isolated deficiency of Factor X. We speculate that this deficit could be secondary to consumption due to the chronic Myelomonocytic Leukemia.


Assuntos
Idoso , Humanos , Masculino , Deficiência do Fator X/etiologia , Lobo Frontal/lesões , Leucemia Mielomonocítica Crônica/complicações , Antimetabólitos Antineoplásicos/uso terapêutico , Azacitidina/uso terapêutico , Deficiência do Fator X/diagnóstico , Hematoma/diagnóstico , Leucócitos , Leucemia Mielomonocítica Crônica/tratamento farmacológico , Monócitos , Convulsões/complicações
3.
Rev. ADM ; 71(1): 19-22, ene.-feb. 2014. ilus, tab
Artigo em Espanhol | LILACS (Américas) | ID: lil-776088

RESUMO

Se detalla y fundamenta la técnica de extracción atraumática de dientestemporales unirradiculares en pacientes pediátricos con trastornos de lacoagulación utilizando separadores elastoméricos. Se expone el caso deun paciente pediátrico con diagnóstico de defi ciencia de factor X de lacoagulación, quien requirió de la extracción atraumática de los órganosdentarios centrales superiores temporales debido a la gingivorragiapropia de la exfoliación natural.


We describe the technique of atraumatic tooth extraction for single-rooted temporary and permanent teeth in pediatric patients with bleed-ing disorders using elastomeric separators and discuss its benefi ts. We present the case of a pediatric patient diagnosed with coagulation factor X defi ciency who required the atraumatic extraction of his temporary upper central teeth due to gingival bleeding caused by natural exfoliation.


Assuntos
Humanos , Masculino , Criança , Assistência Odontológica para Crianças/métodos , Extração Dentária/métodos , Transtornos Herdados da Coagulação Sanguínea/cirurgia , Transtornos Herdados da Coagulação Sanguínea/diagnóstico , Deficiência do Fator X/complicações , Dente Decíduo/cirurgia , México , Procedimentos Cirúrgicos Bucais/métodos , Elastômeros de Silicone , Esfoliação de Dente
4.
Chinese Journal of Hematology ; (12): 633-636, 2014.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-242099

RESUMO

<p><b>OBJECTIVE</b>To deepen the understanding of acquired coagulation factor X (F X) deficiency.</p><p><b>METHODS</b>The clinical data of 3 patients were analyzed and related literature were reviewed.</p><p><b>RESULTS</b>Case 1, a 57-year-old male, secondary to multiple myeloma and amyloidosis, was presented with spontaneous mucous hemorrhage with the level of FX:C 1.8%, which kept unchanged after chemotherapy with melphalan, glucocorticoid, and thalidomide, and died of primary disease progression. Case 2, a 41-year-old male with psoriasis, was presented with cerebral and retinal hemorrhage with the level of FX:C 26.8%. The signs of hemorrhage were alleviated after the supplement of folic acid, vitamin B12, and vitamin K, and transfusion with red blood cells, platelets, and fresh frozen plasma. Case 3, a 63-year-old female, associated with high level of lupus anticoagulant, was presented with repeated ecchymosis and haemarthrosis with the level of FX:C 6.1%, which was refractory to prothrombin complex concentrate, methyprednisolone, azathioprine, and rituximab.</p><p><b>CONCLUSION</b>Acquired FX deficiency is a rare disorder with variable symptoms. The diagnosis relies on history of disease and laboratory test. Currently, there is no standardized treatment. The prognosis of acquired FX deficiency is mainly related to the underlying disease.</p>


Assuntos
Adulto , Deficiência do Fator X , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-254518

RESUMO

<p><b>OBJECTIVE</b>To identify potential mutations and explore the molecular mechanism underlying combined inherited coagulation factors VII(FVII) and X(FX) deficiency for a family featuring consanguineous marriage between maternal cousins.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII activity (FVII:C), FX activity (FX:C), FVII antigen (FVII:Ag), FX antigen (FX:Ag) and other coagulant parameters of the proband and 5 family members were measured. Potential mutations in exons, exon-intron boundaries and 5', 3' untranslated sequences of F7 and F10 genes were screened by polymerase chain reaction and direct sequencing. Suspected mutations were confirmed by sequencing the opposite strand.</p><p><b>RESULTS</b>PT and APTT of the proband were obviously prolonged to become 76.4 s and 60.2 s, respectively. FVII:C, FVII:Ag,FX:C and FX:Ag of the proband were obviously reduced to become 4%, 6%, 6% and 33%, respectively. Both PT and APTT of her grandmother, father, mother and daughter were slightly prolonged, which have measured 16.4 s, 15.8 s,16.9 s, 16.5 s, and 44.0 s, 42.1 s, 41.1 s, 43.5 s, respectively. And their FVII:C (34%, 39%, 31%, 40%, respectively), FX:C (50%, 58%, 47%, 42%, respectively) and FX:Ag (51%, 54%, 58%, 47%, respectively) were slightly reduced, while FVII:Ag was in the normal range. The coagulant parameters of her younger brother were within normal range. Two homozygous mutations, g.11267C to T in exon 8 of F7 gene, which resulted in an Arg277Cys substitution, and g.28139G to T in exon 8 of F10 gene which led to a Val384Phe substitution, were identified in the proband. The proband's grandmother, parents and daughter were heterozygous for both Arg277Cys and Val384Phe mutationss. Wild-type alleles of both F7 and F10 genes were also found in the younger brother.</p><p><b>CONCLUSION</b>A homozygous Arg277Cys mutation and a Val384Phe mutation have been respectively identified in the F7 and F10 genes, which can explain the low levels of FVII and FX in this family. The former has been inherited from the consanguineous parents.</p>


Assuntos
Adulto , Idoso , Consanguinidade , Deficiência do Fator VII , Genética , Deficiência do Fator X , Genética , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo
6.
PAFMJ-Pakistan Armed Forces Medical Journal. 2011; 61 (3): 387-390
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-122844

RESUMO

To determine the frequency of bleeding disorders diagnosed at Armed Forces Institute of Pathology, Rawalpindi [AFIP Rwp]. Descriptive study. Department of Hematology, AFIP Rwp from January 2006 to June 2009. A total of 1836 patients of bleeding diathesis were included in the study. Hess test was done to investigate the vascular defects. Bleeding Time [BT] was done to screen platelet function defects. The 'clotting screen' and mixing studies were done to detect coagulation protein defects. Clot solubility test was performed to screen factor XIII deficiency. Out of 1836 patietns of bleeding diathesis 435 [23.7%] were diagnosed as having haemostatic defects. Out of these 435 patients 273 [62.8%] had coagulation factor deficiency, 81 [18.6%] had platelet function defects and 81 [18.6%] had vWF deficiency. Among the 273 coagulation factor deficiency patients, factor VIII deficiency was in 121 [44.3%], factor IX deficiency in 32 [11.7%], factor V deficiency in 18 [6.6%], factor XIII deficiency in 15 [5.5%], factor VII deficiency in 12 [4.4%], factor X deficiency in 9 [3.3%], factor I deficiency in 8 [2.9%] and factor II deficiency was in 3 [1.1%]. Multiple factor deficiency was 55 [20.1%]. No defects of vasculature were identified. Coagulation factor deficiencies, with factor VII deficiency being the commonest are the most frequent bleeding disorders. Platelet function defects and vWF deficiency also comprise significant proportion of the bleeding disorders


Assuntos
Humanos , Masculino , Feminino , Fragilidade Capilar , Tempo de Sangramento , Retração do Coágulo , Deficiência do Fator V , Deficiência do Fator VII , Deficiência do Fator X , Deficiência do Fator XI , Deficiência do Fator XII , Deficiência do Fator XIII , Doenças de von Willebrand
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-131142

RESUMO

Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.


Assuntos
Idoso , Amiloidose/complicações , Fator X/metabolismo , Deficiência do Fator X/diagnóstico , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Cadeias Leves de Imunoglobulina/metabolismo , Masculino , Pessoa de Meia-Idade , República da Coreia , Transplante Autólogo
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-131140

RESUMO

Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.


Assuntos
Idoso , Amiloidose/complicações , Fator X/metabolismo , Deficiência do Fator X/diagnóstico , Feminino , Transplante de Células-Tronco Hematopoéticas , Humanos , Cadeias Leves de Imunoglobulina/metabolismo , Masculino , Pessoa de Meia-Idade , República da Coreia , Transplante Autólogo
9.
Chinese Journal of Hematology ; (12): 854-857, 2011.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-345972

RESUMO

<p><b>OBJECTIVE</b>To perform gene analysis and family survey of a patient with combined inherited FVII and FX deficiency, and to identify the gene mutation of this patient.</p><p><b>METHODS</b>The phenotype diagnosis was validated by coagulant parameter assay on prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII and FX activity (FVII:C, FX:C) and FVII and FX antigen (FVII:Ag, FX:Ag). FVII and FX gene mutations were analyzed in the proband and other family members by DNA direct sequencing of all exons, exon-intron boundaries and 5', 3' untranslated sequences. One hundred and six health examination participants were selected as control.</p><p><b>RESULTS</b>The values of PT and APTT of the proband showed significantly prolonged, which were 84.5s and 63.4s, respectively. The levels of FVII:C, FVII:Ag, FX:C and FX:Ag were 6%, 7%, 4% and 30%, respectively. The PT of his father, mother and sister was prolonged slightly while both APTT and FVII:Ag were in the normal range. Two homozygous mutations, g.11267C→T in exon 8 of FVII gene resulting in the substitution of Arg277Cys and g.28139G→T in exon 8 of FX gene leading to the substitution of Val384Phe, were identified in the proband. The proband's parents and sister were heterozygous for Arg277Cys and Val384Phe mutations.</p><p><b>CONCLUSION</b>Homozygous mutation Arg277Cys in FVII gene and Val384Phe in FX gene were the molecular mechanism causing combined inherited FVII and FX deficiency. The Val384Phe substitution was a novel mutation, which may affect the synthesis or secretion of FX protein.</p>


Assuntos
Adolescente , Adulto , Sequência de Bases , Análise Mutacional de DNA , Fator VII , Genética , Deficiência do Fator VII , Genética , Deficiência do Fator X , Genética , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Adulto Jovem
10.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-76844

RESUMO

PURPOSE: Clotting factor X deficiency is one of the least common coagulation disorders. The authors describe a case of cleft palate in a patient with a congenital clotting factor X deficiency. METHODS: In pediatric patients with a cleft palate, the coagulation problem is more worrisome, because they are more sensitive to blood than adults, and because postoperative bleeding can cause blood ingestion with subsequent vomiting, aspiration, and airway obstruction. To prevent hemorrhagic complications in the described case, fresh frozen plasma (FFP) was administered every 24 hours from the day before surgery to the second postoperative day. RESULTS: Good hemostasis, normal healing, and no complications was shown postoperatively. CONCLUSION: The replacement of fresh frozen plasma was useful in the case of congenital clotting factor deficiency for bleeding prophylaxis in cleft palate operation.


Assuntos
Adulto , Obstrução das Vias Respiratórias , Fissura Palatina , Ingestão de Alimentos , Fator X , Deficiência do Fator X , Hemorragia , Hemostasia , Humanos , Plasma , Vômito
11.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-157345

RESUMO

We report a case of nephrotic syndrome and factor X deficiency secondary to primary amyloidosis. A 58-year-old man was referred to our hospital for evaluation of nephrotic syndrome and bleeding tendency. He was confirmed to have primary amyloidosis by renal biopsy, immunofixation electrophoresis and bone marrow findings. His bleeding tendency was due to prothrombin time prolongation caused by isolated factor X deficiency. If any patient with nephrotic syndrome has bleeding tendency due to coagulation abnormalities, that patient should be considered to have factor X deficiency secondary to primary amyloidosis.


Assuntos
Amiloidose , Biópsia , Medula Óssea , Eletroforese , Fator X , Deficiência do Fator X , Hemorragia , Humanos , Pessoa de Meia-Idade , Síndrome Nefrótica , Tempo de Protrombina
13.
Indian Pediatr ; 2005 Dec; 42(12): 1240-2
Artigo em Inglês | IMSEAR (Sudeste Asiático), GHL | ID: sea-11059

RESUMO

Stuart Prower factor (Factor X) deficiency is a rare hereditary autosomal recessive coagulation disorder. We have come across three cases in the course of last 20 years at our institute. These patients presented with prolonged bleeding after minor trauma, epistaxis, subcutaneous bluish black nodules and two of them presented with history of consanguinity in parents. Hematological findings in correlation with clinical manifestations revealed severe factor X deficiency.


Assuntos
Adolescente , Testes de Coagulação Sanguínea , Pré-Escolar , Deficiência do Fator X/diagnóstico , Humanos , Índia , Lactente , Masculino
14.
Indian J Pathol Microbiol ; 2004 Apr; 47(2): 223-4
Artigo em Inglês | IMSEAR (Sudeste Asiático), GHL | ID: sea-74194

RESUMO

Congenital factor X deficiency is a very rare inherited coagulation disorder. The clinical phenotype is of varying bleeding manifestations depending upon the level of factor activity. We describe a one and a half year old patient with severe deficiency (factor level less than 1%) who manifested with only easy bruisability and epistaxis that does not correlate with level of deficiency.


Assuntos
Testes de Coagulação Sanguínea , Deficiência do Fator X/sangue , Humanos , Lactente , Masculino , Fenótipo
15.
Indian J Pathol Microbiol ; 2004 Apr; 47(2): 259-61
Artigo em Inglês | IMSEAR (Sudeste Asiático), GHL | ID: sea-73694

RESUMO

Hereditary factor X deficiency is one of the rarest inherited coagulation factor deficiency. We are presenting here clinico-haematological profile and diagnostic approach of five such cases seen by us over a period of eleven years (year 1991-2001).


Assuntos
Adolescente , Adulto , Testes de Coagulação Sanguínea , Pré-Escolar , Deficiência do Fator X/sangue , Humanos , Masculino
16.
Chinese Journal of Hematology ; (12): 519-522, 2004.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-291388

RESUMO

<p><b>OBJECTIVE</b>To explore the molecular mechanisms involved in a pedigree with inherited coagulation factor X (FX) deficiency.</p><p><b>METHODS</b>The activated partial thromboplastin time (APTT), prothrombin time (PT), FX activity (FX:C) and FX antigen (FX:Ag) test were adopted for phenotype diagnosis. All the 8 exons, intron/exon boundaries and the 5'untranslated regions (UTR) of the FX gene were amplified by polymerase chain reaction (PCR) from the genomic DNA extracted from the peripheral blood of the propositus. The PCR products were screened by direct sequencing. The mutation was confirmed by allele specific PCR (ASPCR).</p><p><b>RESULTS</b>The phenotype of the propositus was identified as FX deficiency (type II). Two novel FX gene mutations were detected in the propositus: one was a donor site splice mutation in intron 1 (IVS1 + 1G-->A), another was a missense mutation 1185G-->A in exon 8 (Arg347His).</p><p><b>CONCLUSION</b>The FX deficiency of the propositus is caused by double heterozygous mutations IVS1 + 1G-->A and Arg347His.</p>


Assuntos
Antígenos , Genética , Sequência de Bases , Análise Mutacional de DNA , Fator X , Genética , Deficiência do Fator X , Genética , Feminino , Heterozigoto , Humanos , Masculino , Mutação , Linhagem , Adulto Jovem
17.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2003; 13 (11): 658-60
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-62469

RESUMO

A combination of duodenal telangiectasia with factor X deficiency presenting as recurrent malena is rarely reported. Pylorus preserving pancreaticoduodenectomy done under cover of prothrombin complex resulted in complete recovery. Histopathology was consistent with angiomatosis. It is suggested that in managing a case of upper gastrointestinal bleeding, besides establishing the source of bleeding, it is important to detect underlying coagulopathy


Assuntos
Humanos , Masculino , Angiodisplasia/complicações , Transtornos da Coagulação Sanguínea , Fator X , Gastroenteropatias/diagnóstico , Hemorragia Gastrointestinal/diagnóstico , Resultado do Tratamento , Deficiência do Fator X
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