Browsing by Author "Cunha, C"
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- Anti-NMDA receptor encephalitis presenting with total insomnia--a case reportPublication . Marques, IB; Teotónio, R; Cunha, C; Bento, C; Sales, FFatal insomnia (FI) is the first diagnosis to be considered by most neurologists when approaching a patient presenting with total insomnia followed by personality and cognitive changes, disturbance of alertness, autonomic hyperactivation and movement abnormalities. We report the case of a 30 year-old male patient who presented with total insomnia followed by episodes of psychomotor restlessness resembling anxiety attacks. Twenty days later, he developed refractory convulsive status epilepticus with admission to Intensive Care Unit. He progressed to a state of reduced alertness and responsiveness, presenting periods of agitation with abnormal dyskinetic movements, periods of autonomic instability and central hypoventilation. Workup revealed antibodies against N-methyl-d-aspartate receptor (NMDAR). Immunotherapy treatment led to a very significant improvement with the patient presenting only slight frontal lobe dysfunction after one year of recovery. To the best of our knowledge this is the first report of a patient with anti-NMDAR encephalitis first presenting with total insomnia. Our aim is to alert that anti-NMDAR encephalitis must be considered in the differential diagnosis of FI, especially in sporadic cases. Distinguishing the two conditions is very important as, contrarily to the fatal disclosure of FI, anti-NMDAR encephalitis is potentially reversible with adequate treatment even after severe and prolonged disease.
- Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosisPublication . Soares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, EDilated fetal bowel is a sonographic fi nding that is associated to meconium ileus, a feature of cystic fi brosis (CF). Prenatal diagnosis of CF is possible through analysis of the cystic fi brosis transmembrane regulator gene mutations. A male infant is described, who was referred to our Prenatal Diagnosis Center a 17th week of gestation with a dilated bowel loop on a prenatal scan. Amniocentesis was performed at 23rd week gestation and a homozygous F508del mutation was found. He was born at 38 weeks gestation, after an otherwise unremarkable pregnancy, and admitted to Neonatal Intensive Care Unit. He showed progressive abdominal distension without stools and was transferred to another Hospital to surgery. A total occlusion of terminal ileum with meconium and a microcolon were found, and resection of 8 cm of ileum and an ileostomy were performed. The characteristic sonographic fi nding of a dilated bowel is an indication to search for CF mutations.
- Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approachPublication . Oliveira, PH; Cunha, C; Almeida, S; Ferreira, R; Maia, S; Saraiva, JM; Lopes, MFJuvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6years of age. A 3.34Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.
- MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's diseasePublication . Guedes, JR; Santana, I; Cunha, C; Duro, D; Almeida, MR; Cardoso, AM; Pedroso de Lima, MC; Cardoso, ALINTRODUCTION: Mononuclear phagocytes play a critical role during Alzheimer's disease (AD) pathogenesis due to their contribution to innate immune responses and amyloid beta (Aβ) clearance mechanisms. METHODS: Blood-derived monocytes (BDMs) and monocyte-derived macrophages (MDMs) were isolated from blood of AD, mild cognitive impairment (MCI) patients, and age-matched healthy controls for molecular and phenotypic comparisons. RESULTS: The chemokine/chemokine receptor CCL2/CCR2 axis was impaired in BDMs from AD and MCI patients, causing a deficit in cell migration. Changes were also observed in MDM-mediated phagocytosis of Aβ fibrils, correlating with alterations in the expression and processing of the triggering receptor expressed on myeloid cells 2 (TREM2). Finally, immune-related microRNAs (miRNAs), including miR-155, -154, -200b, -27b, and -128, were found to be differentially expressed in these cells. DISCUSSION: This work provides evidence that chemotaxis and phagocytosis, two crucial innate immune functions, are impaired in AD and MCI patients. Correlations with miRNA levels suggest an epigenetic contribution to systemic immune dysfunction in AD.
- MÓDULO 4 - Cirurgia, Anestesiologia, Ortopedia, Neurocirurgia, Oftalmologia e ORLPublication . Brito, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Ribeiro, P; Neves, S; Cunha, C; Horta, P; Seabra, J; Conceição, V; Paiva, C; Monteiro, M; Silva, L
- MÓDULO 6 - Especialidades Cirúrgicas: 3º CURSO DE FORMAÇÃO PARA INTERNOS 2015 - 2016Publication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Silva, P; Pires, A; Gata, L; Mação, P; Félix, M; Santos, L; Cunha, C; Piedade, C
- New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndromePublication . Lopes, D; Gomes, AM; Cunha, C; Pinto, CS; Fidalgo, T; Fernandes, JCAtypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.