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Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation.
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BACKGROUND
Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1
Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.
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We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on
Dom Pedro I of Brazil and IV of Portugal: epilepsy and peculiar behavior.
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We present medical issues related to Dom Pedro de Alcântara Bragança e Bourbon (1798-1834), first Emperor of Brazil. This is made by means of narrative revision on historical facts starting from primary and secondary sources. Dom Pedro presented familiar incidence of epilepsy. His seizures were
Frequency measurement of vowel formants produced by Brazilian children aged between 4 and 8 years.
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OBJECTIVE
To investigate frequency measurement of the first three formants of the seven oral Brazilian Portuguese vowels of healthy children aged 4-8 years.
METHODS
Two hundred seven children of both genders were selected by oral expression screening and perceptive-auditory analysis. They were
Characteristics of the acquisition of sonorant consonants orthography in Brazilian children from a São Paulo municipality.
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OBJECTIVE
To describe the spelling performance of children with regard to the record of sonorant consonants in Brazilian Portuguese language, to verify if the errors in their records were influenced by the accent in the word, and to categorize the kinds of errors found.
METHODS
For this current
Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.
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The genetic analysis of simple Mendelian epilepsies remains a key strategy in advancing our understanding of epilepsy. In this article, we describe a new family epilepsy syndrome, partial epilepsy with pericentral spikes, which we map to chromosome 4p15. We distinguish it clinically,
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.
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Öncü-Öner T, Ünalp A, Porsuk-Doru İ, Ağılkaya S, Güleryüz H, Saraç A, Ergüner B, Yüksel B, Hız-Kurul S, Cingöz S. GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria. Turk J Pediatr 2018; 60: 229-237. Polymicrogyria is a
Tears of joy, aesthetic chills and heartwarming feelings: Physiological correlates of Kama Muta
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Situations involving increased closeness or exceptional kindness are often labeled as moving or touching and individuals often report bodily symptoms, including tears, goosebumps, and warmth in the body. Recently, the kama muta framework has been proposed as a cross-cultural conceptualization of
Reproductive toxicology and clastogenic evaluation in mice of a phytotherapeutic formulation obtained from Cinchona calisaya Weddel (Rubiaceae) used in Brazilian folk medicine as female fertility stimulant.
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BACKGROUND
In Brazil, a phytotherapeutic preparation produced from a standardized tincture of Cinchona calisaya Weddel such that each mL of product contains 400µg of quinine, known in Portuguese as Água Inglesa(®) (English water), is indicated by the manufacturer as a tonic, appetite stimulant, and
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