Browsing by Author "Oliveira, J"
Now showing 1 - 10 of 12
Results Per Page
Sort Options
- Aplicações Forenses da Impressão em 3DPublication . Marques, J; Durão, C; Miamoto, P; Oliveira, J; Cunha, E
- Atypical phenotype in two patients with LAMA2 mutationsPublication . Marques, J; Duarte, ST; Costa, S; Jacinto, S; Oliveira, J; Oliveira, ME; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Evangelista, T; Calado, ECongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients underwent clinical, histopathological, imaging and genetic studies. Both cases have two heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C (p.Thr821Pro) located in exon 18. Brain MRI was instrumental for the diagnosis, since muscular examination and motor achievements were normal in the first patient and there was a severe cardiac involvement in the second. The clinical phenotype of the patients is markedly different which could in part be explained by the different combination of mutations types (two missense versus a missense and a truncating mutation).
- Conflitos médico legais em artroplastias da ancaPublication . Durão, C; Oliveira, J; Lucas, F
- Endoscopic third ventriculostomy in the management of hydrocephalus: Outcome analysis of 168 consecutive procedures.Publication . Salvador, SF; Oliveira, J; Pereira, J; Barros, H; Vaz, RBACKGROUND: Endoscopic third ventriculostomy (ETV) is the treatment of choice for obstructive hydrocephalus, but the outcome is still controversial in terms of age and aetiology. METHODS: Between 1998 and 2011, 168 consecutive procedures were performed in 164 patients, primarily children (56%<18 years of age and 35%<2 years of age). The causes of obstructive hydrocephalus included tumoural pathology, Chiari malformation, congenital obstruction of the aqueduct, post-infectious and post-haemorrhagic membranes, and ventriculo-peritoneal shunt (VPS) malfunctions. Successful ETV was defined by the resolution of symptoms and the avoidance of a shunt. RESULTS: ETV was successful in 75.6% of patients, but 19% of the patients required VPS in the first month after ETV, and 5.4% required a VPS more than one month after ETV. Four patients were ultimately submitted for second ETVs. In this series, no major permanent morbidity or mortality was observed. CONCLUSIONS: ETV is a safe procedure and an effective treatment for obstructive hydrocephalus even following the dysfunction of previous VPSs and in children younger than two years.
- Hérnia discal pós traumática e o conflito médico legalPublication . Durão, C; Oliveira, J; Lucas, F
- Influenza vaccination in older adults and patients with chronic disorders: A position paper from the Portuguese Society of Pulmonology, the Portuguese Society of Cardiology, the Portuguese Society of Diabetology, the Portuguese Society of Infectious Diseases and Clinical Microbiology, the Portuguese Society of Geriatrics and Gerontology, and the Study Group of Geriatrics of the Portuguese Society of Internal MedicinePublication . Froes, F; Timóteo, A; Almeida, B; Raposo, JF; Oliveira, J; Carrageta, M; Duque, S; Morais, AInfluenza affects millions of people worldwide each year and can lead to severe complications, hospitalizations, and even death, especially among vulnerable populations such as older adults and those with chronic medical conditions. Annual vaccination is considered the most effective measure for preventing influenza and its complications. Despite the widespread availability of influenza vaccines, however, vaccination coverage rates remain suboptimal in several countries. Based on the latest scientific evidence and expert opinions on influenza vaccination in older people and patients with chronic disease, the Portuguese Society of Pulmonology (SPP), the Portuguese Society of Diabetology (SPD), the Portuguese Society of Cardiology (SPC), the Portuguese Society of Geriatrics and Gerontology (SPGG), the Study Group of Geriatrics of the Portuguese Society of Internal Medicine (NEGERMI-SPMI), and the Portuguese Society of Infectious Diseases and Clinical Microbiology (SPDIMC) discussed best practices for promoting vaccination uptake and coverage and drew up several recommendations to mitigate the impact of influenza. These recommendations focus on the efficacy and safety of available vaccines; the impact of influenza vaccination on older adults; patients with chronic medical conditions, namely cardiac and respiratory conditions, diabetes, and immunosuppressive diseases; and health care professionals, optimal vaccination timing, and strategies to increase vaccination uptake and coverage. The resulting position paper highlights the critical role that vaccinations play in promoting public health, raising awareness, and encouraging more people to get vaccinated.
- Lesões TalâmicasPublication . Morais, N; Oliveira, J; Afonso, M; Abreu-Lima, J; Moreira da Costa, JA; Serviço de Neurocirurgia, Hospital de Braga
- Pharmacological versus microvascular decompression approaches for the treatment of trigeminal neuralgia: clinical outcomes and direct costsPublication . Lemos, L; Alegria, C; Oliveira, J; Machado, A; Oliveira, P; Almeida, AIn idiopathic trigeminal neuralgia (TN) the neuroimaging evaluation is usually normal, but in some cases a vascular compression of trigeminal nerve root is present. Although the latter condition may be referred to surgery, drug therapy is usually the first approach to control pain. This study compared the clinical outcome and direct costs of (1) a traditional treatment (carbamazepine [CBZ] in monotherapy [CBZ protocol]), (2) the association of gabapentin (GBP) and analgesic block of trigger-points with ropivacaine (ROP) (GBP+ROP protocol), and (3) a common TN surgery, microvascular decompression of the trigeminal nerve (MVD protocol). Sixty-two TN patients were randomly treated during 4 weeks (CBZ [n = 23] and GBP+ROP [n = 17] protocols) from cases of idiopathic TN, or selected for MVD surgery (n = 22) due to intractable pain. Direct medical cost estimates were determined by the price of drugs in 2008 and the hospital costs. Pain was evaluated using the Numerical Rating Scale (NRS) and number of pain crises; the Hospital Anxiety and Depression Scale, Sickness Impact Profile, and satisfaction with treatment and hospital team were evaluated. Assessments were performed at day 0 and 6 months after the beginning of treatment. All protocols showed a clinical improvement of pain control at month 6. The GBP+ROP protocol was the least expensive treatment, whereas surgery was the most expensive. With time, however, GBP+ROP tended to be the most and MVD the least expensive. No sequelae resulted in any patient after drug therapies, while after MDV surgery several patients showed important side effects. Data reinforce that, (1) TN patients should be carefully evaluated before choosing therapy for pain control, (2) different pharmacological approaches are available to initiate pain control at low costs, and (3) criteria for surgical interventions should be clearly defined due to important side effects, with the initial higher costs being strongly reduced with time.
- Qual o melhor método de conservação para estudos biomecânicos? Protocolo entre a SPOT e o INMLPublication . Durão, C; Carpinteiro, D; Oliveira, J; Lucas, F
- Severe malaria: clinical casePublication . Pires, A; Capela, C; Gouveia, P; Mariz, J; Gomes, G; Oliveira, J