Browsing by Author "Coelho, J."
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- Anterior Chamber Flare as an Objective and Quantitative Noninvasive Method for Oculopathy in Transthyretin V30M Amyloidosis PatientsPublication . Beirão, J.; Miranda, V.; Pinheiro-Torres, B.; Coelho, J.; Menéres, M.; Menéres, P.Purpose. Assess the aqueous humor flare in transthyretin V30M amyloidosis patients (ATTRV30M). Materials and Methods. This is a retrospective, cross-sectional, noninterventional comparative study including 28 ATTRV30M patients with a unilateral scalloped iris. For comparative analysis, the fellow eye, the nonscalloped iris eye, from each patient was used as control. All patients underwent aqueous humor flare meter and intraocular pressure (IOP) measurements. Results. Mean aqueous humor flare was significantly higher in the eyes with the scalloped iris than the control group with the nonscalloped iris (14.1 ± 2.2 versus 6.5 ± 0.9 pc/ms, respectively). No significant differences in IOP were found in the scalloped iris eyes than those in the nonscalloped iris control group (17.1 ± 0.8 versus 16.8 ± 0.7 mmHg, respectively). No significant correlation was not found between the flare and the IOP value within groups. Conclusions. In this study, aqueous humor flare values in the scalloped iris eyes may be a valid marker for controlling the stage of the oculopathy in ATTRV30M patients.
- Blood in a Haab StriaPublication . Lages, V.; Coelho, J.; Abreu, C.; Menéres, M.; Barbosa, I.We describe a case of an asymptomatic and spontaneous intracorneal hemorrhage in an adult with congenital glaucoma and blood collected in a Haab stria.
- Perturbação de Hiperatividade e Défice de Atenção: casuística de um Centro SecundárioPublication . Coelho, J.; Melo, C.; Rocha, F.; Santos, S.; Barros, S.; Martins, C:Introdução: A Perturbação de Hiperatividade e Défice de Atenção (PHDA) é o distúrbio neuro comportamental mais frequente em crianças em idade escolar e caracteriza-se pela dificuldade em controlar a atividade motora, a impulsividade e dificuldade em controlar a atenção. Objetivos: Caracterização das crianças com PHDA seguidas num hospital distrital. Material e Métodos: Estudo retrospetivo de crianças com o diagnóstico de PHDA. Analisadas as variáveis: idade, sexo, antecedentes familiares e pessoais, sintomatologia, co morbilidades, tratamento e resposta terapêutica. Resultados: Analisadas 45 crianças, 75,5 % do sexo masculino. À data do diagnóstico, 62,2 % das crianças apresentavam entre cinco e oito anos. Antecedentes familiares relacionados com PHDA foram identificados em 40% dos casos. Em 44,5%, a referenciação foi efetuada pela consulta de Pediatria Geral, sendo os motivos mais frequentes as dificuldades da aprendizagem (37,8%) e as alterações do comportamento (35,5%). A maioria das crianças (55,5%) apresentava associação de hiperatividade e défice de atenção. Realizada avaliação cognitiva em 90%, sendo que 39% apresentaram coeficiente intelectual inferior ao normal. As co morbilidades mais frequentes foram: alterações da linguagem, ansiedade, distúrbios de oposição/desafio. O tratamento com metilfenidato foi iniciado em 95%, com efeitos laterais em 16,3 %. Em 80% a resposta ao tratamento foi favorável. Conclusão: A PHDA apresenta elevada incidência em rapazes com idades entre os cinco e os oito anos, com predomínio do tipo misto. As dificuldades da aprendizagem e as alterações do comportamento são habitualmente o motivo de consulta. A intervenção com abordagem multidisciplinar e farmacológica demonstrou resultados favoráveis.
- Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large familyPublication . Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeira, J.; Silveira, I.; Coutinho, P.Background: Different mutations in the 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. Objective: To identify the disease causing mutation in a large family of patients with phenotypes of hemiplegic migraine with or without cerebellar signs or permanent cerebellar ataxia without migraine inherited in a dominant manner. Patients and Methods: We examined 15 patients from a large family identified through a systematic survey of hereditary ataxias being conducted in Portugal. Linkage analysis was performed with CACNA1A gene markers, and mutation analysis was performed by single strand conformational polymorphism analysis and sequencing. Results: Genetic linkage analysis with CACNA1A intragenic markers showed positive LOD scores. The maximal LOD score was obtained with the polymorphic CAG repeat (Zmax=4.47, =0). By single-strand conformational polymorphism analysis, a shift in exon 13 of the CACNA1A gene was detected in all patients.AG-to-A substitution was then identified, resulting in an arginine-to-glutamine change at codon 583 of this calcium channel 1A-subunit. Conclusions: The disease-causing mutation in this family was identified, showing that a unique mutation in the CACNA1A gene causes several phenotypes, including those of SCA6 and FHM, thus suggesting that SCA6 and FHM are not only allelic diseases but are the same disorder with a large phenotypic variability.
- THE RED DOT SYSTEM: Emergency Diagnosis Impact and Digital Radiology Implementation - A reviewPublication . Coelho, J.; Rodrigues, P.Radiographer abnormality detection schemes (RADS) were introduced in the early 1980s to assist emergency departments. The development of PACS systems are affecting health professionals forcing them to evolve along, reviewing images on a computer monitor rather than on radiographic film. This article reviewed published articles that evaluated the impact of the use of a Red Dot System in patient outcome of emergency trauma patients and assessed the implementation of a Red Dot System in a Radiology Department with digital radiography and PACS. Few articles addressed the implementation issues and use of a Red Dot system in Computed Radiology. Radiographer skeletal red dot studies, had sensitivity and specificity of, respectively, 0.71 and 0.96 pre-training, and 0.81 and 0.95 post-training, compared with a reference standard. The use of radiographer abnormality detection schemes such as Red Dot and reporting has the potential to improve the diagnosis and outcome of emergency patients. The arrival of Information Technologies (IT) to healthcare and the introduction of Digital Radiography have limited the functionality of RADS due to incompatibility of new technology with the standard practice. New image technology solutions in Radiology should enhance the development and utilization of radiographer skills in RADS environments.