Browsing by Author "Herrero Valverde, A"
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- Alterações mesiotemporais em doentes com neurossífilisPublication . Bousende, M; Cravo, I; Lopes, L; Gonçalves, C; Herrero Valverde, A; Palma, TObjectivos: Avaliar e descrever os achados clínico-imagiológicos de dois doentes com alterações mesiotemporais num contexto de neurossífilis. Métodos: Foram revistos dois casos de neurossífilis com lesões mesiotemporais. Os dados clínicos foram recolhidos dos proces - sos dos doentes, incluindo sexo, idade, apresentação clínica, alterações laboratoriais, electroencefalograma, tratamento e evolução clínica. Foram reavaliadas as ressonâncias magnéticas iniciais e de seguimento dos pacientes. Resultados: Apresentamos dois doentes do sexo masculino, 45 e 43 anos, imunocompetentes e sem história de sífilis conhecida. Ambos apresentavam história de alterações do comportamento, desorientação e alterações mnésicas com semanas de evolução. Laboratorialmente os resultados foram compatíveis com neurossífilis (TPHA e VDRL no sangue e líquor), sendo as serologias para HSV negativas. Na ressonância magnética identificaram-se lesões da substância branca temporal, amígdalas, hipocampos, gyri para - hipocampi e ínsulas. Foi realizada terapêutica com penicilina G durante 14 dias, com evolução clínico-imagiológica favorável. Conclusões: A variabilidade da apresentação clínica e imagiológica na neurossífilis dificulta o seu diagnóstico. O início precoce do tratamento melhora significativamente o prognóstico dos doentes, pelo que um diagnóstico atempado é determinante. Do ponto de vista imagiológico, a neurossífilis deverá ser considerada como diagnóstico diferencial nos casos de lesões mesiotemporais, alertando os clínicos para a importância da sua investigação laboratorial.
- Apoio estatístico à investigação clínicaPublication . Herrero Valverde, A; Soares, P
- AVC e alterações cutâneasPublication . Neves, P; Martins, R; Peres, J; Machado, S; Campillo, J; Herrero Valverde, A
- A Case Report of Nonvasculitic Autoimmune Inflammatory Meningoencephalitis with Sensory Ganglionopathy: A Rare Presentation of Sjögren SyndromePublication . Peres, J; Cruz, S; Oliveira, R; Santos, L; Herrero Valverde, AA 68-year-old Caucasian female was admitted to the emergency department with a progressive history of behavioural symptoms and anxiety followed by visual and auditory hallucinations, forgetfulness, and impaired gait in the previous 3 months. On examination she was psychotic and had a postural and rest tremor of the upper limbs, cogwheel rigidity of the four limbs, retropulsion on standing position, and inability to walk. During the following 2 weeks she developed xerostomia and unilateral parotiditis that improved with steroids. A simultaneous improvement of the cognitive abilities allowed for the detection of sensory ataxia of the lower limbs. Sensory ganglionopathy was then detected with electrophysiological studies. A diagnosis of Sjögren syndrome was suspected and confirmed by salivary gland scintigraphy, Schirmer's test, and submaxillary gland biopsy. We report a case of Sjögren syndrome associated with central and peripheral nervous system involvement, without sicca symptoms preceding the neurological clinical picture. The coexistence of ganglionopathy and a favourable response to immunosuppression are key features that can lead to the correct diagnosis in cases with atypical CNS symptoms, mimicking a rapidly progressive dementia.
- Cefalea en paciente con neurofibromatosis tipo 1Publication . Herrero Valverde, A; Moiron Simões, R; Mera Campillo, J; Palma, TINTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome due to a mutation in chromosome 17 (at 17q11.2). The association of NF-1 with Arnold-Chiari I malformation has been previously described. CASE REPORT: A 23 year-old woman diagnosed of NF-1 based on the presence of cutaneous lesions and a familiar background consistent with this was referred to the neurologist due to oppressive frontooccipital bilateral headache that irradiated to both shoulders. It worsened on physical effort and Valsalva maneuver and had more than one year of evolution. Physical examination showed multiple café au lait spots in the trunk and cutaneous neurofibromas in the cervico-dorsal region, as well as short height and mild dorsal scoliosis. Neurological examination showed hyperreflexia in both legs and slight light touch and pinprick hyposthesia in the left arm. The magnetic resonance findings suggested Arnold - Chiari I malformation with associated cervical syrinx, without any other abnormalities in the central nervous system. She underwent surgery, with partial improvement of the symptoms. CONCLUSION: The association between NF-1 and Arnold- Chiari I malformation seems to be more than coincidental. The abnormalities of the embrionary development secondary to NF-1 would be responsible for the posterior fossa hypoplasia found in Arnold-Chiari malformation. Our case focuses on the idea that Arnold- Chiari malformation should be included in the list of abnormalities reported in NF-1.
- Crosstalk between genetics, gene expression and biochemical markers supports systemic iron homeostasis dysregulation in alzheimer diseasePublication . Crespo, A; Silva, B; Ferreira, C; Marquesa, L; Marcelino, E; Maruta, C; Costa, S; Timóteo, A; Vilares, A; Couto, F; Faustino, P; Correia, AP; Verdelho, A; Porto, G; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Costa, L; Martins, M
- Decrease in APP and CP mRNA expression supports impairment of iron export in Alzheimer's disease patientsPublication . Guerreiro, C; Silva, B; Crespo, A; Marques, L; Costa, S; Timóteo, A; Marcelino, E; Maruta, C; Vilares, A; Matos, M; Couto, F; Faustino, P; Verdelho, A; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Martins, M; Costa, LAlzheimer's disease (AD) is a neurodegenerative disorder of still unknown etiology and the leading cause of dementia worldwide. Besides its main neuropathological hallmarks, a dysfunctional homeostasis of transition metals has been reported to play a pivotal role in the pathogenesis of this disease. Dysregulation of iron (Fe) metabolism in AD has been suggested, particularly at the level of cellular iron efflux. Herein, we intended to further clarify the molecular mechanisms underlying Fe homeostasis in AD. In order to achieve this goal, the expression of specific Fe metabolism-related genes directly involved in Fe regulation and export was assessed in peripheral blood mononuclear cells (PBMCs) from 73AD patients and 74 controls by quantitative PCR. The results obtained showed a significant decrease in the expression of aconitase 1 (ACO1; P=0.007); ceruloplasmin (CP; P<0.001) and amyloid-beta precursor protein (APP; P=0.006) genes in AD patients compared with healthy volunteers. These observations point out to a significant downregulation in the expression of genes associated with ferroportin-mediated cellular Fe export in PBMCs from AD patients, when compared to controls. Taken together, these findings support previous studies suggesting impairment of Fe homeostasis in AD, which may lead to cellular Fe retention and oxidative stress, a typical feature of this disease.
- DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.Publication . Santos, M; Cruz, S; Peres, J; Santos, L; Tavares, P; Basto, JP; Salgado, V; Herrero Valverde, ADOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of steroids, intravenous human immunoglobulin (IVIG) and plasma exchange (PLEX) led to the presumptive diagnosis of a CMS. Initially, a slow-channel CMS was regarded as more probable due to prominent finger extension weakness. Accordingly, fluoxetine was started and a lengthy improvement was seen. Clinical deterioration occurred after fluoxetine withdrawal, when a c.1124_1127dup homozygous mutation was detected in DOK7 gene. Afterwards, salbutamol was started and the patient became asymptomatic. This case highlights the importance of considering CMS before an adult-onset myasthenic syndrome and suggests a benefit from fluoxetine not previously reported in DOK7-CMS.
- Encefalopatia e desequilíbrio da marcha de instalação subagudaPublication . Peres, J; Herrero Valverde, A
- Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulationPublication . Crespo, A; Silva, B; Marques, L; Marcelino, E; Maruta, C; Costa, S; Timóteo, A; Vilares, A; Couto, F; Faustino, P; Correia, AP; Verdelho, A; Porto, G; Guerreiro, M; Herrero Valverde, A; Costa, C; Mendonça, A; Costa, L; Martins, MAlzheimer's disease (AD) is the most common form of dementia in the elderly individuals, resulting from a complex interaction between environmental and genetic factors. Impaired brain iron homeostasis has been recognized as an important mechanism underlying the pathogenesis of this disease. Nevertheless, the knowledge gathered so far at the systemic level is clearly insufficient. Herein, we used an integrative approach to study iron metabolism in the periphery, at both genotypic and phenotypic levels, in a sample of 116 patients with AD and 89 healthy control subjects. To assess the potential impact of iron metabolism on the risk of developing AD, genetic analyses were performed along with the evaluation of the iron status profile in peripheral blood by biochemical and gene expression studies. The results obtained showed a significant decrease of serum iron, ferritin, and transferrin concentrations in patients compared with the control subjects. Also, a significant decrease of ferroportin (SLC40A1) and both transferrin receptors TFRC and TFR2 transcripts was found in peripheral blood mononuclear cells from patients. At the genetic level, significant associations with AD were found for single nucleotide polymorphisms in TF, TFR2, ACO1, and SLC40A1 genes. Apolipoprotein E gene, a well-known risk factor for AD, was also found significantly associated with the disease in this study. Taken together, we hypothesize that the alterations on systemic iron status observed in patients could reflect an iron homeostasis dysregulation, particularly in cellular iron efflux. The intracellular iron accumulation would lead to a rise in oxidative damage, contributing to AD pathophysiology.
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