Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 283
Filtrar
1.
Arch. Soc. Esp. Oftalmol ; 94(8): 409-412, ago. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-185629

RESUMO

Mujer de 20 años de edad con disminución brusca de visión en el ojo izquierdo. En la exploración de fondo de ojo, se observó una hemorragia prerretiniana focal en la arcada temporal superior con hemovítreo acompañante. La evolución espontánea fue favorable. A los 18 meses presentó una nueva pérdida visual en ese ojo, objetivándose una hemorragia premacular subhialoidea que fue drenada satisfactoriamente mediante una hialoidotomía con láser Nd-YAG. La paciente había presentado además, una hemorragia digestiva alta y menorragia. Se le realizó un estudio de la hemostasia que demostró un déficit del factor VII de la coagulación. Se trata de un trastorno muy infrecuente que, con anterioridad, no se había descrito en asociación a la aparición de hemorragias prerretinianas


The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages


Assuntos
Humanos , Feminino , Adulto Jovem , Cegueira/etiologia , Deficiência do Fator VII/complicações , Hemorragia Retiniana/etiologia , Hemorragia Vítrea/etiologia , Deficiência do Fator VII/diagnóstico , Fundo de Olho , Lasers de Estado Sólido/uso terapêutico , Recidiva , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/cirurgia , Hemorragia Vítrea/diagnóstico por imagem
2.
Arch Soc Esp Oftalmol ; 94(8): 409-412, 2019 Aug.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31153657

RESUMO

The case concerns a 20 year-old woman with a sudden visual loss in her left eye. In the fundus examination, a focal pre-retinal haemorrhage was observed in the superior temporal vascular branch with accompanying vitreous haemorrhage. There was a favourable spontaneous outcome. Eighteen months later, she presented with a new visual loss in the same eye, showing a sub-hyaloid pre-macular haemorrhage that was satisfactorily drained by hyaloidotomy using a Nd-YAG laser. The patient had also presented with an upper digestive tract haemorrhage and menorrhagia. A haemostasis study was performed that showed a coagulation factor VII deficiency. This is a very uncommon disorder that has not been previously described in association with the appearance of pre-retinal haemorrhages.


Assuntos
Cegueira/etiologia , Deficiência do Fator VII/complicações , Hemorragia Retiniana/etiologia , Hemorragia Vítrea/etiologia , Deficiência do Fator VII/diagnóstico , Feminino , Fundo de Olho , Humanos , Lasers de Estado Sólido/uso terapêutico , Recidiva , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/cirurgia , Hemorragia Vítrea/diagnóstico por imagem , Adulto Jovem
3.
Eur J Haematol ; 103(1): 67-69, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31069850

RESUMO

The management of anticoagulant therapy (OAT) in patients with factor VII (FVII) deficiency is a very challenging clinical issue, as warfarin further reduces FVII levels, thus potentially increasing bleeding risk. On the other hand, the International Normalized Ratio test is misleading in such patients, as they do not reflect the actual level of global inhibition of the coagulation system. We report here three cases of patients with a moderate FVII deficiency and receiving direct oral anticoagulants (DOAC) for prevention of cardioembolism in atrial fibrillation. Of note, two of them experienced a treatment failure while on warfarin, while DOAC treatment was not associated with thrombotic or hemorrhagic adverse events. DOAC are very attractive for the management of OAT in FVII deficient patients, because they do not require monitoring by tests affected by the inherited defect, and their mechanism of action is FVII-independent.


Assuntos
Anticoagulantes/administração & dosagem , Fibrilação Atrial/complicações , Embolia/etiologia , Embolia/prevenção & controle , Deficiência do Fator VII/complicações , Idoso , Idoso de 80 Anos ou mais , Fibrilação Atrial/diagnóstico , Coagulação Sanguínea/efeitos dos fármacos , Embolia/sangue , Embolia/diagnóstico , Deficiência do Fator VII/diagnóstico , Evolução Fatal , Feminino , Humanos , Masculino , Inibidores da Agregação de Plaquetas/administração & dosagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
4.
Asian Cardiovasc Thorac Ann ; 27(1): 42-44, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30789010

RESUMO

In cardiac surgery, supplementation with recombinant factor VIIa is the treatment of choice for patients with factor VII deficiency, but overzealous administration can be associated with thromboembolic side-effects. A 53-year-old man with factor VII activity 15.2%, international normalized ratio 2.9, and acute thrombotic critical coronary anatomy, underwent coronary artery bypass surgery and a thoracotomy with decortication 5 months later. He was managed successfully without recombinant factor VIIa supplementation. This case demonstrates that current bedside and laboratory tests such as thromboelastography, prothrombin time or international normalized ratio, and factor VII activity may not predict replacement therapy in these patients.


Assuntos
Coagulação Sanguínea/efeitos dos fármacos , Ponte de Artéria Coronária , Doença das Coronárias/cirurgia , Deficiência do Fator VII/tratamento farmacológico , Fator VIIa/administração & dosagem , Hemostáticos/administração & dosagem , Espondilite Anquilosante/cirurgia , Toracotomia , Tomada de Decisão Clínica , Ponte de Artéria Coronária/efeitos adversos , Doença das Coronárias/complicações , Doença das Coronárias/diagnóstico , Esquema de Medicação , Monitoramento de Medicamentos/métodos , Deficiência do Fator VII/sangue , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Fator VIIa/efeitos adversos , Hemostáticos/efeitos adversos , Humanos , Coeficiente Internacional Normatizado , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Valor Preditivo dos Testes , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/efeitos adversos , Espondilite Anquilosante/complicações , Espondilite Anquilosante/diagnóstico , Toracotomia/efeitos adversos , Tromboelastografia , Resultado do Tratamento
5.
Exp Clin Transplant ; 17(Suppl 1): 142-144, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30777540

RESUMO

Organ transplant in patients with congenital bleeding disorders is a challenge requiring an integrated approach of various specialists. Inherited factor VII deficiency is the most common of the rare bleeding disorders, with a wide set of hemorrhagic features. Although a kidney allograft is the most frequent type of solid-organ transplant, it is rarely performed in individuals with congenital hemorrhagic disorders. Here, we highlight the course of a patient with coagulation factor VII deficiency who underwent successful kidney transplant without significant coagulopathy. Our patient was a 19-year-old man with end-stage kidney disease and congenital coagulation factor VII deficiency. Perioperative bleeding was successfully prevented by administration of recombinant factor VII, confirming its safety in solid-organ transplants. Success requires evaluation of doses and therapeutic schedules, as well as a multidisciplinary approach.


Assuntos
Perda Sanguínea Cirúrgica/prevenção & controle , Coagulantes/administração & dosagem , Deficiência do Fator VII/tratamento farmacológico , Fator VIIa/administração & dosagem , Falência Renal Crônica/terapia , Transplante de Rim , Coagulação Sanguínea/efeitos dos fármacos , Monitoramento de Medicamentos/métodos , Deficiência do Fator VII/sangue , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Sobrevivência de Enxerto/efeitos dos fármacos , Humanos , Imunossupressores/administração & dosagem , Coeficiente Internacional Normatizado , Falência Renal Crônica/complicações , Falência Renal Crônica/diagnóstico , Masculino , Proteínas Recombinantes/administração & dosagem , Resultado do Tratamento , Adulto Jovem
7.
Blood Coagul Fibrinolysis ; 29(5): 476-480, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29916836

RESUMO

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.


Assuntos
Deficiência do Fator VII/complicações , Hemorragias Intracranianas/etiologia , Adulto , Deficiência do Fator VII/genética , Feminino , Humanos , Recém-Nascido , Hemorragias Intracranianas/patologia , Masculino , Mutação
8.
JBJS Case Connect ; 8(1): e4, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29369058

RESUMO

CASE: We describe a case of delayed presentation of compartment syndrome in the anterior aspect of the thigh in a high school athlete. The patient had sustained a blow to the thigh 8 days prior to presentation, and had continued to practice football in the setting of undiagnosed coagulopathy. He presented with severe thigh pain and the inability to contract the thigh muscles. CONCLUSION: A high index of suspicion for compartment syndrome is indicated for patients with disproportionate pain, especially in the setting of relatively minor trauma. Underlying coagulopathy should be investigated in patients with compartment syndrome because there is a high incidence of bleeding disorders in this population.


Assuntos
Traumatismos em Atletas , Síndromes Compartimentais , Deficiência do Fator VII , Futebol Americano , Coxa da Perna , Adolescente , Traumatismos em Atletas/complicações , Traumatismos em Atletas/diagnóstico por imagem , Traumatismos em Atletas/cirurgia , Síndromes Compartimentais/complicações , Síndromes Compartimentais/diagnóstico por imagem , Síndromes Compartimentais/cirurgia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Humanos , Masculino , Músculo Esquelético/lesões , Músculo Esquelético/cirurgia , Coxa da Perna/diagnóstico por imagem , Coxa da Perna/lesões , Coxa da Perna/cirurgia
9.
Ter Arkh ; 90(7): 86-90, 2018 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-30701928

RESUMO

Constrictive pericarditis (CP) is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. We present a clinical case of CP in a patient with rare inherited bleeding disorder - factor VII deficiency. Heart failure due to CP was suspected based on clinical symptoms, results of ultrasonic and radiological investigations. The diagnosis was verified by the results of cardiac magnetic resonance imaging. Pericardectomy was performed resulting in significant improvement in the patient's condition.


Assuntos
Deficiência do Fator VII/cirurgia , Pericardiectomia , Pericardite Constritiva/cirurgia , Adulto , Eletrocardiografia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Humanos , Imagem por Ressonância Magnética , Masculino , Pericardite Constritiva/complicações , Pericardite Constritiva/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
10.
Turk J Pediatr ; 60(5): 562-565, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30968639

RESUMO

Ince Z, Bulut Ö, Tugrul-Aksakal M, Ünüvar A, Devecioglu Ö, Çoban A. Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII. Turk J Pediatr 2018; 60: 562-565. Intracranial hemorrhage is considered the most common cause of death in newborns with congenital factor VII (FVII) deficiency. Recombinant activated FVII (rFVIIa) provides specific replacement therapy, however there is limited experience with its neonatal use. We describe our experience about the treatment of intracranial hemorrhage in a newborn with congenital FVII deficiency and emphasize the importance of imaging in asymptomatic patients. She presented with ecchymoses on her skin, no other pathological clinical signs, prolonged PT, normal PTT and FVII activity of 2%. Intracranial hemorrhage was diagnosed while screening for internal bleedings. Treatment with rFVIIa resulted in stabilization and regression of the hematoma.


Assuntos
Deficiência do Fator VII/tratamento farmacológico , Fator VIIa/uso terapêutico , Hemorragias Intracranianas/tratamento farmacológico , Testes de Coagulação Sanguínea/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Deficiência do Fator VII/complicações , Deficiência do Fator VII/diagnóstico , Feminino , Humanos , Recém-Nascido , Hemorragias Intracranianas/etiologia , Proteínas Recombinantes/uso terapêutico , Tomografia Computadorizada por Raios X
11.
Transfus Apher Sci ; 56(6): 867-869, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29102389

RESUMO

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. We also briefly reviewed available data on the treatment of arterial thrombosis in FVII deficiency.


Assuntos
Estenose Coronária/etiologia , Deficiência do Fator VII/complicações , Adulto , Idoso , Criança , Estenose Coronária/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
J Am Vet Med Assoc ; 251(9): 1053-1058, 2017 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-29035661

RESUMO

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. RESULTS Median expression of von Willebrand factor was 19% (interquartile range, 18% to 30%). All 16 dogs with VWD were Doberman Pinschers, and all were pretreated with desmopressin; 4 also received cryoprecipitate. One of 4 dogs with FVII deficiency received plasma preoperatively, and 1 was treated with desmopressin; 2 dogs received no preoperative treatment. Laparoscopic ovariectomy was performed in 9 dogs with VWD and 2 dogs with FVII deficiency, laparoscopic ovariectomy with gastropexy was performed in 6 dogs with VWD and 1 dog with FVII deficiency, and laparoscopic-assisted ovariohysterectomy was performed in 1 dog with VWD and 1 dog with FVII deficiency. Iatrogenic splenic laceration requiring conversion to laparotomy occurred during trocar insertion in 1 dog with VWD. No postoperative complications, including signs of hemorrhage, were reported for any dogs. CONCLUSIONS AND CLINICAL RELEVANCE Laparoscopic ovariohysterectomy or ovariectomy in dogs with VWD or FVII deficiency pretreated with desmopressin, cryoprecipitate, or plasma transfusions were not associated with clinical signs of hemorrhage, suggesting that minimally invasive ovariohysterectomy or ovariectomy may be considered in female dogs affected with these coagulopathies.


Assuntos
Doenças do Cão , Deficiência do Fator VII/veterinária , Laparoscopia/veterinária , Ovariectomia/veterinária , Doenças de von Willebrand/veterinária , Animais , Perda Sanguínea Cirúrgica/prevenção & controle , Cães , Deficiência do Fator VII/complicações , Feminino , Laparoscopia/efeitos adversos , Ovariectomia/efeitos adversos , Ovariectomia/métodos , Doenças de von Willebrand/complicações
13.
J Coll Physicians Surg Pak ; 27(9): S86-S88, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28969734

RESUMO

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.


Assuntos
Fatores de Coagulação Sanguínea/administração & dosagem , Anticoncepcionais Orais/efeitos adversos , Deficiência do Fator VII/complicações , Heparina de Baixo Peso Molecular/administração & dosagem , Trombose dos Seios Intracranianos/induzido quimicamente , Trombose Venosa/induzido quimicamente , Adulto , Fatores de Coagulação Sanguínea/uso terapêutico , Encéfalo/diagnóstico por imagem , Coagulantes , Anticoncepcionais Orais/administração & dosagem , Deficiência do Fator VII/sangue , Deficiência do Fator VII/tratamento farmacológico , Feminino , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Trombose dos Seios Intracranianos/complicações , Trombose dos Seios Intracranianos/tratamento farmacológico , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Trombose Venosa/complicações , Trombose Venosa/tratamento farmacológico
14.
Medicine (Baltimore) ; 96(41): e8197, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29019885

RESUMO

RATIONALE: The main complication of patients with severe hemophilia is recurrent bleeding events that usually affected musculoskeletal contractures. And replacement therapy methods were continuously improved to minimize adverse impacts brought by those complications. However, only several cases reported about the appendectomy for hemophilia A. We report a case of acute appendicitis treated by two-incision laparoscopy in a boy with hemophilia A and coagulation factor VII deficiency for the first time. PATIENT CONCERNS: An 8y7m-old Chinese boy presented with half a day of right sided abdominal pain, fever, nausea, and vomiting. DIAGNOSES: He received a computed tomography (CT) scan which revealed an enlarged appendix, thickened wall and appendiceal fecalith, and had received a conservative anti-bacterial treatment for his acute appendicitis but failed. He was diagnosed with hemophilia A and coagulation factor VII deficiency. INTERVENTIONS: Two-incision laparoscopic appendectomy was made in success with a careful management of perioperative period. We monitored the clotting factor FVIII level and gave him a replacement therapy. OUTCOMES: The patient had an uneventful recovery. LESSONS: It is important to exclude intraabdominal or retroperitoneal hemorrhage in patients suffering from hemophilia and acute abdominal pain. Pre-operative evaluation of validity of the FVIII replacement therapy is another effective strategy to assess the safety and feasibility of applying an operation procedure. The two-incision laparoscopic appendectomy is an effective treatment for this kind of patients for its minimal trauma and fast recovery characteristics. Our report shows that laparoscopic appendectomy is feasible in a child suffering from hemophilia after adequate blood clotting factor replacement treatment.


Assuntos
Apendicectomia/métodos , Apendicite , Deficiência do Fator VII/complicações , Hemofilia A , Hemorragia/diagnóstico , Apendicite/complicações , Apendicite/diagnóstico , Apendicite/cirurgia , Criança , Diagnóstico Diferencial , Hemofilia A/complicações , Hemofilia A/diagnóstico , Hemofilia A/fisiopatologia , Humanos , Laparoscopia/métodos , Masculino , Assistência Perioperatória/métodos , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
15.
G Chir ; 38(2): 66-70, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28691669

RESUMO

AIM: Chronic subdural hematoma (CSDH) is typically in elderly and rarely in young people. To prevent complications and re-bleeding after surgical treatment of CSDH it is important to assess the risk factors as coagulation disorders especially in young patients (below 65 years) with no history of head trauma, alcohol abuse or anticoagulant therapy. PATIENTS AND METHODS: This study consists of 16 patients (12 males, 4 females) with age ranging from 27 to 59 years (median 48,25 years) operated for CSDH. All patients are submitted to routine coagulation parameters pre-operatively and complete screening for unknown coagulation deficit in the follow-up. RESULTS: Factor VII was altered in 6 out of 16 patients and one patient had the alteration of the Von Willebrand factor. Recurrence occurred in 4 out of 16 patients and all of these patients were positive for factor VII deficiency. Three pts were in therapy with ASA. No patients were alcoholists or suffered from hematological disease. CONCLUSION: In this study we documented that the decreased activity of VII factor may play a role in the pathophysiology and recurrence of spontaneous CSDH in young adults. We suggest that for young patients aged under 65 y.o. suffered from CSDH the screening of coagulation factors is useful to planning a safely and correct surgical therapy.


Assuntos
Transtornos de Proteínas de Coagulação/complicações , Hematoma Subdural Crônico/etiologia , Adulto , Deficiência do Fator VII/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
16.
J Oral Maxillofac Surg ; 75(10): 2070.e1-2070.e4, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28672139

RESUMO

PURPOSE: The purpose of the present study was to analyze the management of surgical third molar extraction and postoperative progress in patients with a diagnosis of factor VII deficiency. Close collaboration between the oral-maxillofacial surgeon and hematologist will allow the team to categorize the risk and operate safely, thereby minimizing the incidence and severity of intraoperative and postoperative complications. MATERIALS AND METHODS: The present retrospective study included 7 patients with factor VII deficiency who had undergone third lower molar surgery. Their factor VII deficiency ranged from 10.5 to 21.0%. Recombinant activated factor VII (rFVIIa) (coagulation factor VIIa [recombinant]; NovoSeven RT; Novo Nordisk, Bagsvaerd, Denmark) was transfused intravenously in a single dose of 25 µg/kg body weight, 30 minutes before surgical extractions. After the surgery, betamethasone, an analgesic, and an ice pack were administered. RESULTS: Pretreatment with recombinant activated factor VII resulted in excellent hemostasis. No hemorrhagic complications and no postoperative major bleeding were observed. CONCLUSIONS: The extraction of the third lower molar appears to be a safe procedure for patients with factor VII deficiency when appropriate prophylaxis with rFVIIa is used.


Assuntos
Perda Sanguínea Cirúrgica/prevenção & controle , Deficiência do Fator VII/complicações , Fator VIIa/uso terapêutico , Dente Serotino/cirurgia , Hemorragia Pós-Operatória/etiologia , Hemorragia Pós-Operatória/prevenção & controle , Extração Dentária , Adulto , Protocolos Clínicos , Feminino , Humanos , Masculino , Proteínas Recombinantes/uso terapêutico , Estudos Retrospectivos , Adulto Jovem
18.
Hematology ; 22(6): 375-379, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28176610

RESUMO

OBJECTIVES: To determine whether heterozygotes with FVII deficiency have a bleeding tendency or not. PATIENTS AND METHODS: Eighty-four patients (OK) heterozygous for FVII deficiency, at the onset of the study, were paired with unaffected family members and followed for a long period of time (mean 22.6 years) for the occurrence of bleeding. Diagnosis of heterozygosis had to be based on family studies, clotting, immunological assays and genetic analysis. RESULTS: The mean FVII activity level was 0.51 IU/dl (range 35-65) and 94 IU/dl (range 88-118) in the heterozygotes and in the normal counterparts, respectively. Documented bleeding manifestations occurred in eight heterozygotes and in seven normal subjects. Statistical analysis of the difference was not significant. Bleeding manifestations were easy bruising, bleeding after tooth extractions, menorrhagia, epistaxis with no difference among the two groups. There was no strict correlation between bleeding and FVII activity levels. CONCLUSIONS: The study indicates that heterozygotes for FVII deficiency show rare bleeding manifestations which are also present in the unaffected family members with normal FVII levels. This indicates that Factor VII activity levels played no role in the occurrence of the bleeding symptoms. Furthermore, FVII levels of around 0.40 IU/dl are capable of assuring a normal hemostasis.


Assuntos
Deficiência do Fator VII/complicações , Deficiência do Fator VII/genética , Fator VII/genética , Hemorragia/diagnóstico , Hemorragia/etiologia , Heterozigoto , Mutação , Adolescente , Adulto , Testes de Coagulação Sanguínea , Ativação Enzimática , Deficiência do Fator VII/terapia , Família , Feminino , Humanos , Masculino , Fenótipo , Valores de Referência , Adulto Jovem
19.
Blood Cells Mol Dis ; 67: 86-90, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28038846

RESUMO

Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30µg/kg/dose, given 2-3 times weekly since infancy, are discussed. Clinical follow up and monitoring laboratory assays, including thrombin generation, measured at various time points after prophylactic rFVIIa administration are presented. Among our treated patients neither FVII activity nor thrombin generation parameters (both already declined 24h post rFVIIa administration) were able to predict the impact of prophylaxis, and could not be used as surrogate markers in order to assess the most beneficial treatment frequency. However, the long clinical follow-up and comprehensive laboratory assessment performed, have shown that early primary prophylaxis as administered in our cohort was safe and effective.


Assuntos
Deficiência do Fator VII/prevenção & controle , Fator VIIa/uso terapêutico , Criança , Pré-Escolar , Deficiência do Fator VII/sangue , Deficiência do Fator VII/complicações , Deficiência do Fator VII/metabolismo , Fator VIIa/administração & dosagem , Feminino , Hemorragia/sangue , Hemorragia/etiologia , Hemorragia/metabolismo , Hemorragia/prevenção & controle , Humanos , Masculino , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/uso terapêutico , Trombina/metabolismo
20.
Ophthalmic Plast Reconstr Surg ; 33(2): e33-e36, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27046037

RESUMO

Orbital extension of subgaleal hematoma is rare. This report describes the case of an otherwise healthy 10-year-old girl who developed delayed contralateral proptosis and external ophthalmoplegia after relatively minor right-sided forehead trauma. She was found to have bilateral subgaleal hematomas communicating with a left superior subperiostial orbital hematoma. Over the course of 2 days, she developed an orbital compartment syndrome requiring emergent canthotomy and cantholysis, followed by surgical incision and drainage of her scalp hematoma without orbitotomy. Hematologic work-up revealed heterozygous factor VII deficiency.


Assuntos
Síndromes Compartimentais/etiologia , Traumatismos Craniocerebrais/complicações , Hematoma/etiologia , Doenças Orbitárias/diagnóstico , Criança , Deficiência do Fator VII/complicações , Feminino , Humanos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA