RESUMO
We report a case of transient complete heart block following occlusion of the first septal perforator branch after stent deployment in the left anterior descending coronary artery. The patient was treated with temporary transvenous pacing and reverted spontaneously to normal atrioventricular conduction after 3 days.
Assuntos
Oclusão com Balão/efeitos adversos , Estimulação Cardíaca Artificial , Bloqueio Cardíaco/etiologia , Bloqueio Cardíaco/terapia , Idoso , Angina Instável/diagnóstico por imagem , Angina Instável/terapia , Angioplastia Coronária com Balão/métodos , Oclusão com Balão/métodos , Angiografia Coronária , Eletrocardiografia , Feminino , Seguimentos , Bloqueio Cardíaco/diagnóstico , Humanos , Pós-Menopausa , Recuperação de Função Fisiológica , Medição de Risco , Stents , Resultado do TratamentoRESUMO
Modern medicine is directed towards the prevention, detection and cure of individual diseases. Yet, current medical models inadequately describe aging-associated diseases. We now know that failure in longevity pathways including oxidative stress, multisystem dysregulation, inflammation, sarcopenia, protein deposition and atherosclerosis are associated with age-related diseases. Such longevity pathways are potential targets for therapeutic intervention. Interventions in specific pathways have been shown to ameliorate and postpone the aging phenotype by activation of multiple genes. The strategy that we propose in this paper is to apply interventions simultaneously on complementary longevity pathways to achieve a synergistic result. For instance, aging is known to attenuate the HSF1 pathway leading to production of very toxic beta-amyloid fibrils. Consequently, the FoxO pathway is activated, resulting in the formation of less toxic high molecular weight aggregates as a defense mechanism. Thus the simultaneous upregulation of the HSF1 and FoxO pathways could potentially decrease protein deposition and proteotoxicity, thereby retarding or possibly preventing the onset of neurodegenerative diseases. Modulating these two pathways may also delay the onset of other age-related pathologies including cognitive decline, cancer, diabetes and cardiovascular disease due to its multi-gene effect. In this paper, we will discuss the role of several agents on the simultaneous modulation of these two central longevity pathways. The aging of western societies makes prevention of age-related diseases a pressing priority.
Assuntos
Proteínas de Ligação a DNA/metabolismo , Fatores de Transcrição Forkhead/metabolismo , Longevidade , Doenças Neurodegenerativas/prevenção & controle , Transdução de Sinais , Fatores de Transcrição/metabolismo , Fatores Etários , Animais , Restrição Calórica , Doenças Cardiovasculares/genética , Doenças Cardiovasculares/metabolismo , Doenças Cardiovasculares/prevenção & controle , Proteínas de Ligação a DNA/genética , Fatores de Transcrição Forkhead/genética , Fatores de Transcrição de Choque Térmico , Humanos , Longevidade/genética , Neoplasias/genética , Neoplasias/metabolismo , Neoplasias/prevenção & controle , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/metabolismo , Fenótipo , Fatores de Risco , Transdução de Sinais/efeitos dos fármacos , Transdução de Sinais/genética , Fatores de Transcrição/genéticaRESUMO
CONTEXT: Osteopathia striata with cranial sclerosis is an X-linked dominant condition caused by mutations in the WTX gene, resulting in linear striations in long bones in combination with cranial sclerosis. This condition is usually lethal in males. OBJECTIVE/PATIENT: Our aim was to determine the underlying genetic cause in a 37-yr-old male with this condition. DESIGN: DNA sequencing of peripheral blood and hair was performed to identify mutations in WTX. Quantitative PCR was performed to determine gene copy number variation. RESULTS: DNA sequenced from peripheral blood revealed the presence of two alleles at the 1108th position of the WTX gene. Subsequent DNA sequencing of hair follicles and quantitative PCR confirmed the presence of mosaicism. CONCLUSION: A novel mutation (c.1108G>T) found in our patient results in a truncated protein (E370X). Our patient represents the first confirmed case of mosaicism in osteopathia striata with cranial sclerosis.