Subject(s)
Factor VIII/genetics , Hemophilia A/genetics , MicroRNAs/metabolism , 3' Untranslated Regions , Alleles , Binding Sites , Brazil , Factor VIII/antagonists & inhibitors , Factor VIII/metabolism , Gene Frequency , Germ-Line Mutation , Hemophilia A/pathology , Humans , Male , MicroRNAs/genetics , Phenotype , Polymorphism, Single Nucleotide , Severity of Illness IndexABSTRACT
A total of 76 unrelated male patients with mild (n = 55) or moderate (n = 21) haemophilia A living in the southern Brazilian state of Rio Grande do Sul were studied by direct sequencing of all F8 26 exons, the 5' UTR and 3' UTR, intron-exon junctions and the promoter region. When no mutation was found, a multiplex ligation-dependent probe amplification analysis was performed. We identified the disease-causing mutations in 69 patients, who showed 33 different mutations: 27 missense, one small deletion, two small duplications and three splice site mutations. Seven missense and two splice site mutations were not previously reported in HAMSTeRS and were not identified in any current literature search. Nine recurrent mutations were found, one of them never described before (p.Tyr1786Phe). Haplotype analysis indicated that this mutation had originated in the Brazilian population as a single event in a common ancestor. The possible influence of these mutations in the determination of the disease was carefully considered, including bioinformatic tools. These data add to the general knowledge of the disease and can also be useful for HA diagnosis and detection of carriers in the southern Brazilian population.
Subject(s)
Factor VIII/genetics , Hemophilia A/genetics , Hemophilia A/pathology , Mutation , 3' Untranslated Regions , 5' Untranslated Regions , Adolescent , Adult , Aged , Brazil , Child , Child, Preschool , Exons , Genotype , Haplotypes , Hemophilia A/drug therapy , Humans , Infant , Introns , Male , Middle Aged , Pathology, Molecular , Phenotype , Young AdultSubject(s)
Factor VIII/antagonists & inhibitors , Hemophilia A/genetics , Immune System/metabolism , Polymorphism, Genetic , Alleles , Brazil , CTLA-4 Antigen/genetics , HLA-G Antigens/genetics , Hemophilia A/immunology , Humans , Interleukin-10/genetics , Interleukin-4/genetics , Odds Ratio , Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics , Receptors, Interleukin-4/genetics , Receptors, Tumor Necrosis Factor, Type I/genetics , Severity of Illness Index , Tumor Necrosis Factor-alpha/geneticsABSTRACT
Os autores apresentam 14 casos de torcao espermaticos, diagnosticados e tratados, com a idade oscilando desde os RN ao adulto, ressaltando dados semioticos importantes para o diagnostico diferencial, enfatizando os cuidados com o testiculo contralateral, ressaltam a importancia de um diagnostico precoce e acurado que permitem uma resolucao satisfatoria, evitando a necrose e comentam as complicacoes
Subject(s)
Adolescent , Adult , Humans , Male , Spermatic Cord TorsionABSTRACT
Studies were performed on adult mongrel dogs to evaluate the possibility of occluding saccular aneurysms with an intravascular injection of the tissue adhesive Bucrylat (isobutyl-2-cyanoacrylate). Fourteen surgically constructed carotid aneurysms were occluded by the injection of Bucrylat through a fluoroscopically positioned intra-arterial catheter. Angiography performed immediately before and after injection and up to 1 month following treatment revealed progressive and persistent occlusion of the aneurysms. The specimens examined histologically 1 month after the injection showed an endothelialized fibrous tissue bridge crossing the neck of the aneurysm what appear to indicate a permanent occlusion of the structures treated. A similar approach to treat intracranial aneurysms will depend on advances in the field of selective intracranial catheterization that will permit safe and accurate catheterization of the aneurysm sac.
