Browsing by Author "Lopes, R."
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- Caso hematológico: trombocitemia essencialPublication . Lopes, R.; Araújo, L.; Costa, E.; Soares, S.; Barbot, J.Essential Thrombocythemia (ET) is a rare disease in pediatric age. The dominant clinical manifestations are thrombotic (arterial or venous) and/or hemorrhagic, but most of the cases are asymptomatic, and diagnosis made by routine hemogram. A previously healthy adolescent, federated football player, was oriented to the paediatric haematology consultation, at the age of 15 years, because of the presence of sustained thrombocytosis. It was established the diagnosis of Essential Thrombocythemia based on the criteria of the World Health Organization (WHO) 2008. The authors highlight the importance of establishing this diagnosis, even in pediatric age, to set the earliest possible a strategy of clinical surveillance, prevention of associated complications and the most adequate therapeutic approach.
- Corino de Andrade disease: mechanisms and impact on reproductionPublication . Lopes, R.; Coelho, T.; Barros, A.; Sousa, M.Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references. In this review, we briefly summarize the epidemiology and the mechanisms involved on amyloid deposition; we detailed how to evaluate the mechanisms implicated on the development of the major signs and symptoms associated with reproductive dysfunction; and we discuss the mechanisms involved in secondary sexual dysfunction after psychological treatments. Treatment of the disease is directed towards relieving specific symptoms in association with liver transplant, and molecular and genetic therapeutics. Although the current clinical trials indicate symptoms relief, no data on the reproductive function was reported. Thus, preimplantation genetic diagnosis is presently the only available technique that eradicates the disease as it avoids the birth of new patients.