Haemophilia
Mostrando 1-12 de 119 artigos, teses e dissertações.
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1. Causes of death and mortality trends related to hemophilia in Brazil, 1999 to 2016
ABSTRACT Introduction Multiple cause of death methodology enhances mortality studies beyond the traditional underlying cause of death approach. Aim: This study aims to describe causes of death and mortality issues related to haemophilia with the use of multiple-cause-of-death methodology. Methods: Annual male haemophilia mortality data was extracted from
Hematol., Transfus. Cell Ther.. Publicado em: 2021-06
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2. The existing scenario of haemophilia care in Canada and China - A review
ABSTRACT Hemophilia is an X-linked recessive genetic disorder which affects approximately 400,000 people globally. Differing healthcare reimbursement systems, budgetary constraints and geographical and cultural factors make it difficult for any country to fully deliver ideal care. Although developed countries have sufficient treatment products available, the
Hematol., Transfus. Cell Ther.. Publicado em: 2020-10
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3. Iontophoresis experimental model as a choice of drug delivery during the acute treatment and chronic hemophilic arthropathy / Estudo experimental da iontoforese como via de administração de farmacos no quadro agudo de hemartrose e no modelo de artropatia cronica hemofilica
A iontoforese é uma técnica de transferência de drogas mediadas por um fluxo elétrico. Os benefícios terapêuticos da introdução de medicamentos pela iontoforese incluem a diminuição de efeitos colaterais sistêmicos aos quais o paciente apresenta intolerância e a ação localizada do medicamento podendo este estar em maior concentração na área
Publicado em: 2006
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4. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
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5. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
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6. Simultaneous inheritance and expression of classical haemophilia A and type IIA von Willebrand's disease.
A family is described in which the mother is a haemophilia carrier, the father has asymptomatic type IIA von Willebrand's disease, and their second son has simultaneously inherited both severe haemophilia and type IIA von Willebrand's disease. This is the first report of both diseases occurring simultaneously. The inheritance patterns and laboratory data on
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7. Cross-reacting material in genetic variants of haemophilia B
Cross-reacting factor IX material (CRM) was immunologically detected in the plasma of 38 normal individuals and 21 out of 22 haemophilia B patients using a rabbit antibody to factor IX. The same reacting material was detected in only nine of these patients using a human antibody. These results indicate that the plasma of the majority of haemophilia B patient
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8. Coronary artery disease in severe haemophilia.
It has been suggested that the coagulation defect in haemophilia A protects these patients from coronary artery disease. We report two patients with severe haemophilia, who each had severe atheroma localised to the coronary arteries. Both patients had received only small amounts of factor VIII concentrates in their lifetime because of various social reasons.
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9. Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.
The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1380 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on factor I
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10. Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.
Haemophilia A is an X linked bleeding disorder caused by a heterogeneous spectrum of mutations in the factor VIII gene. It has recently been reported that about 50% of severe haemophilia A cases are the result of an iversion in the factor VIII gene. The inversion results from homologous recombination between the A gene located in intron 22 of the FVIII gene
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11. Haemophilia B: database of point mutations and short additions and deletions, 7th edition.
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1535 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: facto
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12. Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp) identified in haemophilia B patients. The 1,142 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor