ObjectivesExamine the role of single nucleotide polymorphisms (SNPs) in the oestrogen receptor (ER) genes: rs9340799, rs2234693, rs2228480 (in the ESR1 gene) and rs4986938 (in the ESR2 gene) as a risk factor for amnesic mild cognitive impairment (MCIa) and Alzheimer's disease (AD) and its possible association with the apolipoprotein E (APOE) gene.DesignWe have investigated the independent and combined association of different alleles of the oestrogen receptor genes and APOE*ɛ4 allele with cognitive impairment using a case–control design.SettingParticipants were prospectively recruited from the neurology departments of several Basque Country hospitals.ParticipantsThis study comprised 816 Caucasian participants who were aged 50 years and older: 204 MCIa, 350 sporadic patients with AD and 262 healthy controls.Primary and secondary outcome measuresClinical criteria and neuropsychological tests were used to establish the diagnostic groups (MCIa, AD and healthy controls). A dichotomous variable was used for each allele and genotype and the association with MCIa and AD was established using Logistic Regression Models.ResultsNeither alleles nor genotypes of SNPs rs9340799, rs2234693, rs2228480 and rs4986938 of oestrogen receptor genes (ESR1 and ESR2) are independently associated with the risk of MCIa or AD. However, the genetic profile created with the combination of the less represented alleles of these SNPs (expressed as XPAA) was associated with an increased risk for MCIa (OR=3.30, 95% CI 1.28 to 8.54, p=0.014) and AD (OR=5.16, 95% CI 2.19 to 12.14, p<0.001) in women APOE*ɛ4 allele carriers.ConclusionsThe less represented alleles of SNPs studied are associated with MCIa and AD in APOE*E4 carriers. In particular, the genetic profile created with the less represented alleles of ESR1 and ESR2 SNPs are associated with an increased risk for MCIa and AD in women APOEɛ4 allele carriers.

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We present 3 cases of cardiac papillary fibroelastoma (PFE) revealed by acute ischemic stroke (table). Case 1 is a 38-year-old man who presented with sudden expressive language disorder and right hemiparesis. CT angiography showed a left middle cerebral artery (MCA) occlusion. Acute reperfusion therapy with endovascular thrombectomy (EVT) was achieved successfully. He was monitored in a stroke unit. The aspirated tissue was macroscopically congruent with a fibrin clot but the material was insufficient for pathologic analysis. A brain MRI performed a few days after admission showed a subacute ischemic stroke (figure, A). Blood tests, including hypercoagulability and autoimmunity assays, were normal or negative. Serial EKG and EKG Holter showed sinus rhythm. Transthoracic echocardiography (TTE) revealed an intracardiac mobile mass, with no history of fever or general malaise and negative blood cultures, suggestive of a primary cardiac tumor. Transesophageal echocardiography (TEE) (figure, B) confirmed the presence of an 11-mm pediculate mass bulging from the auricular surface of the mitral valve, with no valve or cardiac dysfunction. The suspicion of a primary cardiac tumor was supported. Case 2 is a 64-year-old man who presented with sudden left hemiparesis and dysarthria. CT angiography showed a right MCA occlusion. Endovascular acute reperfusion was attempted, but when the arteriography was performed, there had been a distal migration of the thrombus. He was monitored in a stroke unit. A brain MRI showed an established stroke (figure, A). Blood tests and EKG Holter were normal. TTE showed a pediculate mobile mass on the mitral valve. TEE (figure, B) confirmed its presence, 14 mm, in absence of valve dysfunction. There was no history of fever, raising the suspicion of a primary cardiac tumor. Case 3 is a 73-year-old man who presented with sudden expressive language disorder and right hemiparesis. There was no established stroke or arterial occlusion on CT scan/CT angiography. IV alteplase (recombinant tissue plasminogen activator [rtPA]) was administered in a stroke unit, with a good response. The brain MRI demonstrated a left temporoparietal stroke (figure, A). Blood tests were normal. Serial EKG and EKG Holter showed sinus rhythm. TTE revealed an auricular mass. TEE (figure, B) defined a 9-mm pediculate mass with frayed edges bulging from the left atrial appendage, suggestive of a primary cardiac tumor. There was no cardiac dysfunction.