Search Results - "Dias, Daniel Aguiar"

Vertebrobasilar Hypoplasia Associated with Loss of Consciousness Induced by Laughter by Barreto, Esther Grangeiro, Dias, Daniel Aguiar, de Lucena, Adson Freitas, Magalhães, Samir Câmara

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Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment by Nóbrega, Paulo Ribeiro, Bernardes, Anderson Moura, Ribeiro, Rodrigo Mariano, Vasconcelos, Sophia Costa, Araújo, David Augusto Batista Sá, Gama, Vitor Carneiro de Vasconcelos, Fussiger, Helena, Santos, Carolina de Figueiredo, Dias, Daniel Aguiar, Pessoa, André Luíz Santos, Pinto, Wladimir Bocca Vieira de Rezende, Saute, Jonas Alex Morales, de Souza, Paulo Victor Sgobbi, Braga-Neto, Pedro

“…Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants…”
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Intracranial mass lesions and skin discoloration in the armpits as unusual clues to Erdheim-Chester disease: a case report by Rodrigues, Pedro Gustavo Barros, Pereira, Isabelle de Sousa, Lima Filho, Valter Barbalho, Dias, Daniel Aguiar, Nóbrega, Paulo Ribeiro, Braga-Neto, Pedro

“…Erdheim-Chester disease (ECD) is a non-Langerhans histiocytosis that results in multi-organ disease involving the skin, bones, lungs and kidneys. Central…”
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Hemorrhagic PRES: an unusual neurologic manifestation in two COVID-19 patients by Dias, Daniel Aguiar, de Brito, Lara Albuquerque, Neves, Luciana de Oliveira, Paiva, Roberto Guido Santos, Barbosa Júnior, Octávio Alencar, Tavares-Júnior, José Wagner Leonel

“…Two patients with confirmed COVID-19 infection both manifesting with typical computerized tomography (CT) lung findings (less than 50% of lung parenchyma…”
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Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report by Nóbrega, Paulo Ribeiro, da Costa, Francisco Bruno Santana, Rodrigues, Pedro Gustavo Barros, de Maria Frota Vasconcelos, Thais, Soares, Danyela Martins Bezerra, Araújo, Jéssica Silveira, Dias, Daniel Aguiar, Sobreira-Neto, Manoel Alves, de Paiva, Anderson Rodrigues Brandão, Braga-Neto, Pedro, Kok, Fernando, Fontenele, Eveline Gadelha Pereira

“…Abstract Background Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. TS…”
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Peculiar aetiology for orbital apex syndrome: Wyburn-Mason syndrome as orbital apex lesion by Barros, Lívio Leite, Lima, Pedro Lucas Grangeiro de Sá Barreto, de Oliveira Júnior, Pedro Helder, Dias, Daniel Aguiar, Santos, Carolina de Figueiredo, Braga-Neto, Pedro, Nóbrega, Paulo Ribeiro

“…BackgroundWyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes with fewer than 100 cases…”
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Multinodular and vacuolating neuronal tumor of the cerebrum: three case reports by Lessa, Antônio Gláuber Uchôa, Albuquerque, Lucas Alverne Freitas de, Morais, Norma Martins de Menezes, Dias, Daniel Aguiar, Nóbrega, Paulo Ribeiro

“…Multinodular and vacuolating neuronal tumor (MVNT) of the cerebrum is a seizure-associated rare lesion that currently appears to be a malformative lesion or…”
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Diagnostic approach in a patient with Creutzfeldt-Jakob disease by Tavares-Júnior, José Wagner Leonel, Carvalho, Renata de Oliveira, Feitosa, Raul Raposo Pereira, Rolim, Flávia de Paiva Santos, Rocha, Felipe Araújo, Pitombeira, Milena Sales, Malveira, George Linard Silva, de Carvalho, João José Freitas, Frota, Norberto Anizio Ferreira, Dias, Daniel Aguiar

“…Prion diseases are an important cause of rapidly progressive dementias. Among them, the most common is sporadic Creutzfeldt-Jakob disease (CJD). It is a rare…”
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Presumed Zika virus-related congenital brain malformations: the spectrum of CT and MRI findings in fetuses and newborns by Castro, José Daniel Vieira de, Pereira, Licia Pacheco, Dias, Daniel Aguiar, Aguiar, Lindenberg Barbosa, Maia, Joanira Costa Nogueira, Costa, Jesus Irajacy Fernandes da, Castro, Eveline Campos Monteiro de, Feitosa, Francisco Edson de Lucena, Carvalho, Francisco Herlânio Costa

“…The new epidemic of Zika virus infection raises grave concerns, especially with the increasingly-recognized link between emerging cases of microcephaly and…”
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Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report by Belém, Abel Dantas, Vasconcelos, Thaís de Maria Frota, Paula, Rafael César dos Anjos de, Costa, Francisco Bruno Santana da, Rodrigues, Pedro Gustavo Barros, Pereira, Isabelle de Sousa, Tavares, Paulo Roberto de Arruda, Galdino, Gabriela Studart, Dias, Daniel Aguiar, Santos, Carolina de Figueiredo, Sobreira-Neto, Manoel Alves, Braga-Neto, Pedro, Nobrega, Paulo Ribeiro

“…Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with…”
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Osteogenesis imperfecta and cerebrospinal fluid leak: a unique presentation and treatment challenge by Pompeu, Clara Mota Randal, Matos, Anna Caroline Rodrigues de Souza, Pompeu, Mirian Mota Randal, Meireles, Luis Fernando Falcão de Castro, Dias, Daniel Aguiar, Gomes, Erika Ferreira

“…Introduction: Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue that mainly manifests as bone fragility. Other signs and symptoms…”
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Síndrome Gorham-Stout - um desafio diagnóstico e terapêutico by Ponte Neto, Fernando Lopes, Dias, Daniel Aguiar, Aguiar, Lucas Mustafa, Sena, Karine Sampaio, Galdino, Gabriela Studart

“…A linfangiomatose difusa, também conhecida como síndrome Gorham-Stout, é uma doença rara. A patologia causa alterações morfológicas devido a infiltração de…”
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Pyle disease (metaphyseal dysplasia) presenting in two adult sisters by Soares, Diego Ximenes, MD, Almeida, Amália Mapurunga, MD, Barreto, André Rodrigues Façanha, MD, Alencar e Silva, Ilze Jucá, MD, de Castro, José Daniel Vieira, MD, PhD, Magalhães Pinto, Francisco José, MD, Dias, Daniel Aguiar, MD, Aguiar, Lindenberg Barbosa, MD

“…Abstract Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its…”
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Fetal goiter conservatively monitored during the prenatal period associated with maternal and neonatal euthyroid status by Neto, José Ferreira Gomes, Araujo Júnior, Edward, Costa, Jesus Irajacy Fernandes, Dias, Daniel Aguiar, Aguiar, Lindemberg Barbosa, Carvalho, Francisco Herlânio Costa

“…Congenital goiter is considered a rare occurrence, and may be related to hypothyroidism, hyperthyroidism, or euthyroidism. In this report, we describe a case…”
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Achados de imagem na doença de Tay-Sachs: um relato de caso by Franco, Suyane Benevides, Pontes, Pedro Henrique Sales, Teixeira, Elaine Fernandes Andrade, Morais, Norma Martins de Menezes, Dias, Daniel Aguiar

“…Objetivos: Revisar os achados de imagem característicos na doença de Tay-Sachs, um distúrbio autossômico recessivo raro. Metodologia: Relato de caso de um…”
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"Glass Eel" Sign in Chikungunya Myelopathy by Nobrega, Paulo Ribeiro, Junior, Pedro Helder, Galdino, Gabriela Studart, Dias, Daniel Aguiar, Vieira Castro, José Daniel

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“Glass Eel” Sign in Chikungunya Myelopathy by Nobrega, Paulo Ribeiro, Junior, Pedro Helder, Galdino, Gabriela Studart, Dias, Daniel Aguiar, Castro, José Daniel Vieira

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New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment by Brito, Lara Albuquerque, Nóbrega, Paulo Ribeiro, Dias, Daniel Aguiar, Barreto, André Rodrigues Façanha, Freitas, Hermany Capistrano, Kok, Fernando, Rodrigues, Cleonisio Leite

“…Background Gonadal dysgenesis with minifascicular neuropathy (GDMN) is a rare autosomal recessive condition associated with biallelic DHH pathogenic variants…”
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Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy by Nóbrega, Paulo Ribeiro, de Brito de Souza, Jorge Luiz, Maurício, Rebeca Bessa, de Paiva, Anderson Rodrigues Brandão, Dias, Daniel Aguiar, Camelo, Clara Gontijo, Zanotelli, Edmar, Schlesinger, David, Braga-Neto, Pedro, Moreno, Cristiane Araujo Martins

“…Background Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of…”
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Anatomical implications of posterior cephaloceles in the dural venous sinuses by Teixeira, Anderson Alexsander Rodrigues, de Melo Neto, Fernando Furtado, de Abreu, Nina Maia Pinheiro, Dias, Daniel Aguiar, Souza, Moyses Loiola Ponte

“…Objective To analyze the venous anatomy of the dural sinuses of patients with posterior encephaloceles, in order to formulate anatomical patterns which can…”
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