RESUMO
OBJECTIVE/BACKGROUND: In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management. METHODS: A previously healthy woman without dysmorphic features presented with pregnancy associated vascular dissections and aneurysms. Next generation clinical exome sequencing was performed. RESULTS: The differential diagnosis of spontaneous arterial dissection is outlined. The patient's diagnosis became evident after clinical exome sequencing detected a novel missense mutation in the evolutionary conserved region of SMAD3, confirming the diagnosis of Loeys-Dietz syndrome (LDS) type 3. A brief overview of the various types of LDS and their management is presented. CONCLUSION: Clinical exome sequencing proved useful in diagnosing LDS type 3 where detailed vascular surveillance and timely intervention with a low threshold is recommended.
Assuntos
Análise Mutacional de DNA , Exoma , Testes Genéticos/métodos , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/genética , Mutação de Sentido Incorreto , Proteína Smad3/genética , Angiografia Coronária , Diagnóstico Diferencial , Feminino , Predisposição Genética para Doença , Humanos , Síndrome de Loeys-Dietz/complicações , Síndrome de Loeys-Dietz/terapia , Angiografia por Ressonância Magnética , Fenótipo , Valor Preditivo dos Testes , Gravidez , PrognósticoRESUMO
OBJECTIVE - Cerebral infarction preferentially affects the posterior cerebral artery distribution in migraine patients. The results obtained from the few known studies that have compared the anterior and posterior cerebral endothelial function are contradictory. To the best of our knowledge, cerebrovascular reactivity to L-arginine (CVR), measured by transcranial Doppler sonography (TCD), has not been previously used to determine the posterior cerebral endothelial function in migraine patients with (MwA) and without aura (MwoA). MATERIALS AND METHODS - Forty migraine patients without comorbidities (20 MwA, 20 MwoA) and 20 healthy subjects were included. By employing strict inclusion criteria, we avoided the possible vascular risk factors. Mean arterial velocity in the middle cerebral artery (MCA) and the posterior cerebral artery (PCA) was measured by TCD before and after infusion of L-arginine, and CVR to L-arginine was then calculated. RESULTS - All migraine patients had lower CVR to L-arginine in PCA (P = 0.002) and similar in MCA (P = 0.29) compared to healthy subjects. This difference was also present in MwA and MwoA compared to healthy subjects (P = 0.003). CONCLUSIONS - Lower CVR to L-arginine in PCA in migraine patients could associate migraine and cerebral infarcts that are more common in the posterior cerebral artery distribution.
Assuntos
Artéria Cerebral Anterior/efeitos dos fármacos , Arginina/farmacologia , Circulação Cerebrovascular/efeitos dos fármacos , Endotélio Vascular/efeitos dos fármacos , Transtornos de Enxaqueca/complicações , Artéria Cerebral Posterior/efeitos dos fármacos , Adulto , Artéria Cerebral Anterior/diagnóstico por imagem , Artéria Cerebral Anterior/fisiopatologia , Arginina/administração & dosagem , Velocidade do Fluxo Sanguíneo , Feminino , Humanos , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/diagnóstico por imagem , Transtornos de Enxaqueca/fisiopatologia , Artéria Cerebral Posterior/diagnóstico por imagem , Artéria Cerebral Posterior/fisiopatologia , Fatores de Risco , Ultrassonografia Doppler Transcraniana , Resistência Vascular/efeitos dos fármacosRESUMO
Increased morbidity and mortality rates as well as some other manifestations in Alzheimer's disease can be explained by subcortical degeneration. Pathological evidence is scarce but confirmative. We report a 77-year-old patient who presented with a 6-year history of dyspnoea, stridor and dysphagia. Unexpectedly, histopathological examination disclosed extensive degeneration of the medulla by tau pathology. The majority of symptoms and signs could be explained by the medullary tau pathology. Whether the medullary tau pathology in this case was a rare aberrant progression of Alzheimer's disease or a new presentation of tauopathy concomitant with subclinical Alzheimer's disease should be elucidated by additional studies.
Assuntos
Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Encefalopatias/patologia , Paralisia Bulbar Progressiva/etiologia , Bulbo/patologia , Tauopatias/patologia , Proteínas tau/genética , Idoso , Transtornos de Deglutição/etiologia , Dispneia/etiologia , Eletrocardiografia , Evolução Fatal , Feminino , Humanos , Emaranhados Neurofibrilares/patologia , Transtornos Respiratórios/etiologia , Respiração Artificial , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/terapia , Tauopatias/genética , Tauopatias/metabolismo , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVES: To evaluate systemic endothelial function and atherosclerotic changes in patients with lacunar infarctions (LI) we examined flow-mediated dilatation (FMD) and intima-media thickness (IMT) and compared them to patients with similar risk factors (SR) and healthy controls. METHODS: FMD and IMT were investigated in patients with LI (20 patients, aged 60.9 +/- 7.3 years), 21 age- and gender-matched patients with SR and 21 healthy controls. RESULTS: FMD was more impaired in patients with LI (0.4% +/- 5.0%) compared to patients with SR (3.8% +/- 4.8%) and healthy controls (7.9% +/- 6.0%) (P < or = 0.01), whereas IMT was similarly thickened in both groups of patients. CONCLUSIONS: We found that patients with LI have a diminished FMD, but a similar IMT, compared to patients with SR. Our results reveal that for a given level of atherosclerosis patients with LI have additional endothelial impairment.
