RESUMO
BACKGROUND AND PURPOSE: Identification of patients with familial hypercholesterolaemia (FH) is a prerequisite for the appropriate management of their excess cardiovascular risk. It is currently unknown how many patients with acute ischaemic stroke or transient ischaemic attack (TIA) are affected by FH and whether systematic screening for FH is warranted in these patients. METHODS: The prevalence of a clinical diagnosis of FH was estimated in a large representative series of patients with acute ischaemic stroke or TIA (ABCD2 score ≥ 3) using the Dutch Lipid Clinic Network Algorithm (DLCNA; possible FH ≥3, probable/definite FH ≥6). RESULTS: Out of 1054 patients included in the present analysis, 14 had probable/definite FH (1.3%; 95% confidence interval 0.6-2.0) and 107 possible FH (10.2%; 8.4-12.0) corresponding to an overall prevalence of potential FH of 11.5%. Prevalences were even higher in patients with stroke/TIA manifestation before age 55 in men or 60 in women (3.1%, 0.6-5.6; and 13.1%, 8.3-17.9) and those with a prior history of cardiovascular disease (2.6%, 0.9-4.3; and 15.1%, 11.3-18.9). Of note, in two-thirds of our patients with probable/definite and possible FH, stroke or TIA was the initial clinical disease manifestation. CONCLUSIONS: The frequency of potential FH, based on clinical criteria, in patients with acute ischaemic stroke or TIA was 11.5% and that of probable/definite FH (1.3%) was similar to recently reported counts for patients with acute coronary syndrome (1.6%). FH screening using the DLCNA is feasible in clinical routine and should be considered as part of the usual diagnostic work-up.
Assuntos
Hiperlipoproteinemia Tipo II/epidemiologia , Ataque Isquêmico Transitório/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Idoso , Áustria/epidemiologia , Feminino , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Ataque Isquêmico Transitório/diagnóstico , Masculino , Pessoa de Meia-Idade , Prevalência , Acidente Vascular Cerebral/diagnósticoRESUMO
This study analyzed the topography of acute ischemic stroke in the posterior cerebral artery (PCA) territory. We studied 84 patients with unilateral ischemic PCA stroke. Patients were classified according to lesion levels as cortico-subcortical (superficial), combined (cortical and mesodiencephalic) or isolated thalamic. To receive a lesion map, data from acute MR and CT imaging were normalized and labelled automatically by mapping to stereotaxic anatomical atlases. Cortical lesions accounted for 41.7%, combined for 36.9%, and isolated thalamic lesions for 21.4%. The maximum overlay of ischemia and, thus, highest occurrence of PCA ischemic stroke was found in the ventral and medial occipito-temporal cortex and adjacent white matter association tracts. Dorsal and peripheral segments of the occipito-temporo-parietal region were only rarely lesioned. This configuration was similar in both hemispheres. Consistent with this lesion pattern, visual field defects (VFD) were the most frequent signs, followed by sensorimotor signs, dizziness and sopor, cognitive and oculomotor deficits, and ataxia. The three vascular subgroups differed not only by their anatomical lesion profile and lesion load, but also by their clinical manifestation; although patients with combined and thalamic lesions were sigificantly younger, they were more disabled than participants with cortical lesions. VFD were only found in cortical and combined, and oculomotor deficits only in mesodiencephalic lesions. White matter lesions were common in the cortico-subcortical and the combined group. Basal occipito-temporal and calcarine regions, and neighbouring white matter tracts have the highest risk of ischemia in acute PCA stroke.
Assuntos
Isquemia Encefálica , Infarto da Artéria Cerebral Posterior , Acidente Vascular Cerebral , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico por imagem , Humanos , Infarto da Artéria Cerebral Posterior/complicações , Infarto da Artéria Cerebral Posterior/diagnóstico por imagem , Artéria Cerebral Posterior , Acidente Vascular Cerebral/diagnóstico por imagem , TálamoAssuntos
Porfirias/patologia , Dermatopatias/patologia , Animais , Membrana Basal/ultraestrutura , Vasos Sanguíneos/patologia , Eritropoese , Humanos , Hepatopatias/patologia , Camundongos , Microscopia Eletrônica , Transtornos de Fotossensibilidade/patologia , Protoporfirinas/metabolismo , Pele/irrigação sanguínea , Pele/patologiaRESUMO
The multiple hamartoma syndrome is a genetic disorder of autosomal dominant inheritance. It is characterized by an impressive diversity and multitude of both mesodermal and epithelial hamartomas and tumors of all organ systems. The dermatological hallmarks of this probably not too rare syndrome are lichenoid centrofacial and akral papular lesions and a marked papillomatosis of the entire oral mucosa of a highly characteristic morphology which usually extends throughout the entire length of the gastrointestinal tract. The importance of this syndrome is its frequent association with malignant tumors, predominantly carcinomas of the mammary and thyroid glands. In this paper, we describe the first three cases of the German literature. No malignancies were detected; in one case, a meningeoma causing severe increase of intracranial pressure was discovered.