Browsing by Issue Date, starting with "2009"
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- A articulação esternoclavicular na artrite psoriáticaPublication . Ambrósio, C; Alexandre, M; Malcata, AB
- Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boyPublication . Carreira, IM; Melo, JB; Rodrigues, C; Backx, L; Vermeesch, J; Weise, A; Kosyakova, N; Oliveira, G; Matoso, EBACKGROUND: Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. Associated mosaicism could be the consequence of a post-zygotic event or could result from the correction of a trisomic conception. Tetrasomies of distal segments of the chromosome 3q are rare genetic events and their phenotypic manifestations are diverse. To our knowledge, there are only 12 cases reported with partial 3q tetrasomy. Generally, individuals with this genomic imbalance present mild to severe developmental delay, facial dysmorphisms and skin pigmentary disorders. RESULTS: We present the results of the molecular cytogenetic characterization of an unbalanced mosaic karyotype consisting of mos 46,XY,add(12)(p13.3) [56]/46,XY [44] in a previously described 11 years old autistic boy, re-evaluated at adult age. The employment of fluorescence in situ hybridization (FISH) and multicolor banding (MCB) techniques identified the extra material on 12p to be derived from chromosome 3, defining the additional material on 12p as an inv dup(3)(qter --> q26.3::q26.3 --> qter). Subsequently, array-based comparative genomic hybridization (aCGH) confirmed the breakpoint at 3q26.31, defining the extra material with a length of 24.92 Mb to be between 174.37 and 199.29 Mb. CONCLUSION: This is the thirteenth reported case of inversion-duplication 3q, being the first one described as an inv dup translocated onto a non-homologous chromosome. The mosaic terminal inv dup(3q) observed could be the result of two proposed alternative mechanisms. The most striking feature of this case is the autistic behavior of the proband, a characteristic not shared by any other patient with tetrasomy for 3q26.31 --> 3qter. The present work further illustrates the advantages of the use of an integrative cytogenetic strategy, composed both by conventional and molecular techniques, on providing powerful information for an accurate diagnosis. This report also highlights a chromosome region potentially involved in autistic disorders.
- Identification of 'super-responders' to cardiac resynchronization therapy: the importance of symptom duration and left ventricular geometryPublication . António, N; Teixeira, R; Coelho, L; Lourenço, C; Monteiro, P; Ventura, M; Cristovão, J; Elvas, L; Gonçalves, L; Providência, LAAIMS: Some patients show such an important clinical improvement and reverse remodelling after cardiac resynchronization therapy (CRT) that anatomy and function approach normal. These patients have been called 'super-responders'. The aim of our study was to identify predictors of becoming a super-responder after CRT. METHODS AND RESULTS: Eighty-seven consecutive patients who underwent CRT were prospectively studied. Before CRT and 6 months after, clinical and echocardiographic evaluation was performed. Patients with a decrease in New York Heart Association functional class >or=1, a two-fold or more increase of left ventricular ejection fraction (LVEF) or a final LVEF >45%, and a decrease in LV end-systolic volume >15% were classified as super-responders. There were 12% super-responders. At baseline, there were no significant differences between super-responders and the other patients, except for the fact that super-responders had significantly smaller mitral regurgitation and LV end-diastolic diameter (LVEDD) and a shorter duration of heart failure symptoms. Mitral regurgitation jet area, LVEDD, and duration of heart failure symptoms were correlated with this super-response. Moreover, an evolution of symptoms for <12 months was an independent predictor of super-response to CRT. CONCLUSION: Patients in earlier phases of the cardiomyopathy, with a less altered ventricular geometry, seem to have a greater probability of becoming super-responders.
- Allergic respiratory diseases in the elderlyPublication . Todo-Bom, A; Mota-Pinto, AIn industrialized countries there has been a significant increase in life expectancy, but chronic diseases are still important causes of death and disability in the elderly. Individuals over 65 years of age have a decrease in organic functions and lungs can lose more than 40% of their capacity. Although asthma and allergic rhinitis are more common in young people their prevalence in the elderly is increasing and the mortality reported in these patients is high. Asthmatic airways show an accumulation of activated eosinophils and lymphocytes determining structural changes of the bronchi. Local allergic inflammation, changes in T cell phenotypes and in apoptosis contribute to systemic inflammation. An increased risk of respiratory infections and neoplasic diseases has been recognized. These patients have increased susceptibility to atherosclerosis and cardiovascular diseases. Metabolic diseases are associated with an impairment of lung function and with systemic inflammation. Summing up older asthmatic patients have an increased risk to premature disability and death. A proper therapeutic approach to asthma can minimize this evolution. To identify the triggers is an important goal that allows reducing medication needs. Corticosteroids dampen allergic inflammation; therefore, they are the first choice in the treatment of patients with persistent asthma and rhinitis. Second-generation H1 receptor antagonists have reduced side effects and can be used if necessary. The elderly may have difficult access to health care. They should be educated about their disease and receive a written treatment plan. This information improves the quality of life, socialization and disease outcome in older people.
- Contributo da neurorradiologia: para o diagnóstico das doenças hereditárias do metabolismoPublication . Casimiro, C; Garcia, P; Fineza, F; Melo Freitas, P; Diogo, L
- Tumor de células de Leydig do ovário: caso clínicoPublication . Saleiro, S; Gonçalves, S; Marinho, C; Rebelo, T; Manarte, A; Oliveira, CFLeydig cell tumours account for 0.1% of all ovarian tumours and are a type of steroid cell tumour. According to the World Health Organisation they are classified in the group of sex cord stromal tumours. The clinical presentation is usually a hyperandrogenic state with signs of virilisation, but occasionally patients may exhibit a hyperestrogenic state. The tumour has a benign behaviour, with an excellent prognosis and reversion of symptoms after treatment. The authors present the case of a 61 year-old woman with signs of virilisation that started 8 months before. Abdomino-pelvic computerized tomography showed an enlarged left ovary, while blood hormone analisys revealed increased levels of testosterone, androstenedione and 17-OH progesterone. The patient was submitted to laparoscopic bilateral oophorectomy. Histological examination revealed a Leydig cell tumour of the left ovary. After surgery there was complete regression of symptoms and normalisation of sex hormone levels.
- Multiple focal nodular hyperplasia of the liver associated with spinal and pulmonary arteriovenous malformationsPublication . Cordeiro, MN; Cunha, GN; Freitas, PM; Alves, FCFocal nodular hyperplasia (FNH) is frequently found incidentally in liver imaging but multiple FNH, especially when associated with systemic vascular malformations, are rare. We report on the case of a patient with lumbar sciatalgia and paraparesis. Spinal magnetic resonance angiography (MRA) showed a spinal cord arteriovenous shunt (SCAVS), its arterial feeders and venous drainage, which were later confirmed by digital subtraction angiography (DSA). MRA of the spine offers promising results in the characterization of SCAVS. Thoracoabdominal CT and MRI revealed multiple hepatic FNH and a pulmonary arteriovenous malformation (AVM). Indeed, this is the first reported case of the rare multiple FNH syndrome associated with a spinal AVM.
- Fissura Anal Parte I - Fundamentos TeóricosPublication . Amaro, P; Duarte, A
- Levothyroxine treatment in chronic urticaria associated with thyroid autoimmunityPublication . Machado, D; Pereira, C; Tavares, B; Loureiro, G; Calado, G; Ribeiro, C; Chieira, C