Navegando por Autor "Correia, Carlos Eduardo Rocha"

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Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)
(Journal Of The Neurological Sciences, 2015-10) Afonso, C.O.M.; Campos, M.L.S.; Mendes, V.L.; Campêlo, C.L.C.; Camilo, A.F.C.; Correia, Carlos Eduardo Rocha; Figueiredo, Marcelo Marinho de; Kok, F.; G. Junior, C.O.
Background: Ceramides and their sphingolipid have a wide range of biological functions. Ceramide synthase 1 (CERS1) catalyzes the synthesis of C18 ceramide and is mainly expressed in the brain. Alterations of sphingolipid metabolism are involved in the patho genesis of many neurodegenerative disorders. Objective: Report a case of myoclonic epilepsy and ataxia associated with homozygous variant in the gene CERS1, described in only one family previously). Patients and methods: male, 22 years old with history of appendic ular ataxia since 01 years old, followed by slight myoclonic jerks that progressively worsened despite treatment instituted and delayed psychomotor development. He had a previous episode of generalized tonic-clinic seizures (CTCSs). The electroencephalography (EEG) showed bursts of generalized polyspikes and slow wave discharges and Magnetic Ressonance imaging of the brain showed signs of pontine atrophy, cerebellum and cerebellar peduncle medium and higher, associated with the pontine cross sign. Genomix exonme’s analysis demonstrated a homozygous variant of CERS1. Results: It was found a homozygous variant of CERS1 gene in a patient with epilepsy, ataxia and progressive myoclonic epilepsy, a rare condition currently described as myoclonic epilepsy type 8. Conclusion: Our case demonstrates that reduced levels of CERS1 could be associated with progressive myoclonic epilepsy and must be considered as a differential diagnosis, supporting that impairment of ceramide biosynthesis underlies neurodegeneration in humans. Futher studies may help to define the phenotypes more appropriately.
Desenvolvimento de uma ferramenta digital para auxílio na educação de profissionais da saúde sobre a determinação de morte encefálica
(2018-12-13) Correia, Carlos Eduardo Rocha; Godeiro Júnior, Clécio de Oliveira; ; ; Medeiros, Paulo José de; ; Braga Neto, Pedro; ; Diniz, Rosiane Viana Zuza;
Com o avanço tecnológico da Medicina, pacientes passaram a ser mantidos através de ventilação mecânica e drogas vasoativas apesar da lesão completa e irreversível do encéfalo. O diagnóstico preciso da Morte Encefálica (ME) reduz custos, abrevia o sofrimento da família, aumenta a disponibilidade de leitos em terapia intensiva e a oferta de órgãos para transplante. Diretrizes foram criadas para uniformizar os parâmetros diagnósticos, mas o conhecimento dos estudante de medicina e profissionais médicos tem se mostrado insuficiente. Com objetivo de fornecer uma ferramenta de ensino pra auxiliar na capacitação de profissionais da saúde, foi desenvolvido um aplicativo para computadores e dispositivos móveis com as orientações necessárias para determinação de ME, utilizando imagens, vídeos e conteúdo interativo. Foram utilizados software para criação e animação de modelos 3D (MakeHuman e Blender) e uma plataforma de criação de jogos digitais (Unity). Versões para os diversos sistemas operacionais (iOS, Android, macOS, Windows e Linux) serão disponibilizadas em repositórios na internet e lojas de aplicativos móveis.
Development of a digital Tool to assist the training of health professionals in the determination of brain death
(Studies in Health Technology and Informatics, 2019) Correia, Carlos Eduardo Rocha; Godeiro Junior, Clécio de Oliveira
Due to technological advancement of medicine, patients have been maintained through mechanical ventilation and vasoactive drugs despite complete and irreversible brain injuries. Accurate diagnosis of brain death (BD) reduces costs, shortens family's suffering, and increases availability of intensive care beds and organs for transplantation. Guidelines were created to standardize BD diagnostic parameters, but knowledge of medical students and medical professionals has been demonstrated to be insufficient. To assist health professionals’ in BD determination, a digital training tool that contained images, videos and interactive content was developed for desktops and mobile devices. Software to create and animate 3D models (MakeHuman™ and Blender™) and a game development platform (Unity) were used. Versions for all the major operating systems (iOS™, Android™, macOS™, Windows™ and Linux™) are being made available through online repositories and mobile application stores.
Opsoclonus-myoclonus syndrome associated with herpes simplex encephalitis
(Journal Of The Neurological Sciences, 2015-10-15) Afonso, C.O.M.; Campos, M.L.S.; Maia, Ferdinand Gilbert Saraiva da Silva; Campêlo, C.L.C.; Camilo, A.F.C.; Correia, Carlos Eduardo Rocha; Fernandes, José Veríssimo; Figueiredo, Marcelo Marinho de; Silva, R.A.
Background: Opsoclonus-myoclonus ataxia is a rare neurologic syn drome, often paraneoplastic in origin, but reported in association with various infections. Little is known about adult-onset opsoclonus myoclonus syndrome (OMS) outside of individual case reports Objective: Describe a case of herpes-simplex virus 1 encephalitis presenting as opsoclonus-myoclonus ataxia Patients and methods: A 35 year-old woman, with no known comorbidities, developed a headache with nausea and vomiting, without fever or nuchal rigidity. In the following 48-hours, she presented an altered mental status, opsoclonus and myoclonus and was admitted to hospital. Lumbar puncture: 40 cells (60% mononu clear), protein 140 mg/dL and a normal glucose. Gram stain and culture for bacteria and fungi were negative. A PCR for herpes simplex virus was positive. Brain MRI: normal. Chest, Abdomen and Pelvis CT: no signs of neoplasia. Results: The patient received intra-venous acyclovir for 21 days, with resolution of symptoms Conclusion: OMS is an uncommon presentation of infections of central nervous system. Its fame extends further to the fact that OMS can be a harbinger of occult malignancy. The Adult-onset presentation is rare. Paraneoplastic and parainfectious causes (particularly virus) are common; however, more often OMS in adults occurs after systemic infection. After this report, HSV1 infection should be considered in OMS cases. We described the first case of OMS secondary to Herpes-Simplex Virus 1 infection.
Reversible cerebral vasoconstriction syndrome as a cause of simultaneously ischemic and hemorrhagic stroke
(Journal of the Neurological Sciences, 2015) Correia, Carlos Eduardo Rocha; Godeiro, Clécio de Oliveira; Loureiro, C.; Loureiro, A.; Linard, V.; José, J.; Laurentino, M.; Santiago, P.; Dourado, M.E.; Melo, C.; Marinho, M.
Introduction: Reversible cerebral vasoconstriction syndrome(RCVS) is characterized by multifocal segmental vasoconstriction of cerebral arteries, which resolve spontaneously within 3 months, typically heralded by a sudden, severe headache with or without neurologic deficit. The main complications are intracranial hemorrhage, ischemic disturbance of the cerebral circulation, hypertensive encephalopathy (PRES) or epileptic seizures. Case: Female, 47 years old, hypertensive and no history of previous migraine, suddenly developed headache associated with paresis of the right upper limb. After a few hours of the onset of symptoms, a CT scan was performed and showed intraparenchymal hemorrhage in left temporal and parietal lobes. The patient evolved with partial and progressive improvement of the symptoms. A week later, a CT scan revealed ischemic area at the right parietal lobe. Magnetic Resonance Angiography was performed, which found narrowing of the right posterior and middle cerebral artery. The patient was treated with prednisone and nimodipine for 3 months. A 90 days later MRA revealed no vascular irregularity anymore. Discussion: Stroke, either hemorrhagic or ischemic is a relatively frequent presentation in RCVS, but simultaneously manifestations of intracerebral hemorrhage, and cerebral infarction was not described. More than half the cases (60%) are secondary to exposure to vasoactive substances or occur in the postpartum period. Cortical subarachnoid hemorrhage (22%), intracerebral hemorrhage (6%), seizures (3%), and reversible posterior leukoencephalopathy (9%) are early complication. Ischemic events, including TIAs (16%) and cerebral infarction (4%), occur later than hemorrhagic strokes. Several case series have reported success with calcium channel blockers or short term glucocorticoids medications.

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Navegando por Autor "Correia, Carlos Eduardo Rocha"