RESUMO
Loss-of-function mutations in CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations (CCMs). However, genomic DNA sequencing combined to large rearrangement screening fails to detect a mutation in 5% of those cases. We report a family in which CCM lesions were discovered fortuitously because of the investigation of a developmental delay in a boy. Three members of the family on three generations had typical multiple CCM lesions and no clinical signs related to CCM. No mutation was detected using genomic DNA sequencing and quantitative multiplex PCR of short fluorescent fragments (QMPSF). cDNA sequencing showed a 99-nucleotide insertion between exons 5 and 6 of CCM1, resulting from a mutation located deep into intron 5 (c.262+132_262+133del) that activates a cryptic splice site. This pseudoexon leads to a premature stop codon. These data highly suggest that deep intronic mutations explain part of the incomplete mutation detection rate in CCM patients and underline the importance of analyzing the cDNA to provide comprehensive CCM diagnostic tests. This kind of mutation may be responsible for apparent sporadic presentations due to a reduced penetrance.
Assuntos
Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação , Proteínas Proto-Oncogênicas/genética , DNA Complementar , Feminino , Humanos , Íntrons , Proteína KRIT1 , Masculino , LinhagemRESUMO
Five cases of intramedullary cavernous malformations were retrospectively reviewed. There were 4 women and one man ranging in age from 30 to 67 years. Thoracic spinal cord was involved twice and cervical cord in three cases. Four of them underwent surgery: two improved, one remained stable and symptoms worsened in one. Clinical, radiological features and surgical management are discussed in the light of the follow-up and literature analysis. The role of T2* weighted sequence in MR diagnosis of intramedullary cavernomas is emphasised.
Assuntos
Hemangioma Cavernoso/diagnóstico , Neoplasias da Medula Espinal/diagnóstico , Adulto , Idoso , Meios de Contraste , Feminino , Seguimentos , Gadolínio DTPA , Hemangioma Cavernoso/cirurgia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias da Medula Espinal/cirurgia , Resultado do TratamentoRESUMO
Cardiovascular administrators are being asked to focus on quality, cost-efficient operations of their service lines, to market that service, to secure business through managed-care contracting and to increase direct referral volume.
Assuntos
Serviço Hospitalar de Cardiologia/economia , Sistemas de Gerenciamento de Base de Dados , Preços Hospitalares/estatística & dados numéricos , Infarto do Miocárdio/terapia , Serviço Hospitalar de Cardiologia/normas , Serviço Hospitalar de Cardiologia/estatística & dados numéricos , Controle de Custos/métodos , Controle de Custos/estatística & dados numéricos , Revisão de Uso de Medicamentos , Fibrinolíticos/economia , Fibrinolíticos/normas , Humanos , Tempo de Internação/estatística & dados numéricos , Pessoa de Meia-Idade , Infarto do Miocárdio/tratamento farmacológico , Oklahoma , Ativador de Plasminogênio Tecidual/economia , Ativador de Plasminogênio Tecidual/normas , Resultado do Tratamento , Grau de Desobstrução VascularRESUMO
We evaluated the antiarrhythmic response to magnesium given intravenously to 40 patients who had had elective cardiopulmonary bypass for the surgical treatment of acquired cardiac disease. All 40 patients were found to have hypomagnesemia postoperatively as defined by a serum magnesium level of less than 1.8 mg/dL. The ventricular arrhythmias of these patients were categorized by a modified Lown grade classification. Magnesium sulfate (16 mEq, [2000 mg]) was administered, and the patients were reclassified according to their rate of ventricular ectopia. All arrhythmias of a higher grade responded to the treatment with a marked reduction in ventricular ectopia and were reclassified to a lower grade. This study supports the routine administration of magnesium sulfate, at a dose of 16 mEq, in postoperative cardiac patients who are hypomagnesemic.
