Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report

Background@#Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of ventricular arrhythmias triggered by adrenergic stimuli, usually diagnosed in the first two decades of life. Genetic variants in the cardiac ryanodine receptor gene are the most frequently occurring that cause an increase in intracellular calcium concentration and thus induce ventricular arrhythmias due to a delayed after depolarisation-induced triggered activity.Case presentationWe present the case of a 74-year-old male, a regular athlete with no relevant family history who suffered from sinus dysfunction and frequent premature ventricular complexes with no symptoms. A treadmill test revealed severe polymorphic ventricular arrhythmias which led to the suspicion of CPVT. A genetic study was undertaken, and it identified a rare genetic variant in the RYR2 gene which was possibly associated with its development in heterozygosity: c.14465G > A, p.Arg4822His. While evaluating the co-segregation, we observed that most of his relatives exhibit polymorphic ventricular arrhythmias with exertion without symptoms and carried the same variant. @*Conclusions@#We described, for the first time, the clinical characteristics and co-segregation of a family diagnosed with CPVT secondary to a little-known genetic variant of the RYR2 gene. It is a variant that, in our case study, suggests an association with a very good prognosis.

Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report

Background@#Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of ventricular arrhythmias triggered by adrenergic stimuli, usually diagnosed in the first two decades of life. Genetic variants in the cardiac ryanodine receptor gene are the most frequently occurring that cause an increase in intracellular calcium concentration and thus induce ventricular arrhythmias due to a delayed after depolarisation-induced triggered activity.Case presentationWe present the case of a 74-year-old male, a regular athlete with no relevant family history who suffered from sinus dysfunction and frequent premature ventricular complexes with no symptoms. A treadmill test revealed severe polymorphic ventricular arrhythmias which led to the suspicion of CPVT. A genetic study was undertaken, and it identified a rare genetic variant in the RYR2 gene which was possibly associated with its development in heterozygosity: c.14465G > A, p.Arg4822His. While evaluating the co-segregation, we observed that most of his relatives exhibit polymorphic ventricular arrhythmias with exertion without symptoms and carried the same variant. @*Conclusions@#We described, for the first time, the clinical characteristics and co-segregation of a family diagnosed with CPVT secondary to a little-known genetic variant of the RYR2 gene. It is a variant that, in our case study, suggests an association with a very good prognosis.

Coccidian parasites from birds at rehabilitation centers in Portugal, with notes on Avispora bubonis in Old World / Coccídios parasitas de aves em centros de reabilitação em Portugal, com notas sobre Avispora bubonis no Velho Mundo

Abstract Portugal has some rehabilitation centers for wild animals, which are responsible for the rehabilitation and reintroduction of birds, among other animals, into the wild. Coccidian parasites of these wild birds in rehabilitation centers are especially important because these centers can introduce coccidian species into new environments through the reintroduction of their respective hosts. In this context, the current study aimed to identify intestinal coccidia from wild birds at two rehabilitation centers for wild animals located in two municipalities of Portugal. Eighty-nine wild birds of 9 orders and 11 families were sampled, of which 22 (25%) were positive for Coccidia. Avispora spp. were found in raptors. Sporocysts of Sarcocystinae subfamily were recovered from owls. An Isospora sp. was found in Turdus merula Linnaeus, 1758, and an Eimeria sp. was found in Fulica atra Linnaeus, 1758. Among the coccidian species, Avispora bubonis (Cawthorn, Stockdale, 1981) can be highlighted. The finding of this species indicates that transmission of coccidians from the New World to the Old World may be occurring, potentially through dispersion by Bubo scandiacus (Linnaeus, 1758) through Arctic regions or by means of anthropic activities, and/or through other unknown mechanisms.

Resumo Portugal possui alguns centros de reabilitação de animais silvestres, responsáveis ​​pela reabilitação e reintrodução de aves, entre outros animais, na natureza. Os coccídios parasitas dessas aves silvestres em centros de reabilitação são especialmente importantes porque esses centros podem introduzir espécies de coccídios em novos ambientes através da reintrodução de seus respectivos hospedeiros. Neste contexto, o presente estudo visou identificar coccídios intestinais de aves silvestres em dois centros de reabilitação de animais silvestres localizados em dois municípios de Portugal. Oitenta e nove aves silvestres de 9 ordens e 11 famílias foram amostradas, das quais 22 (25%) foram positivas para coccídios. Avispora spp. foram encontradas em aves de rapina. Esporocistos de coccídios da subfamilia Sarcocystinae foram encontrados em corujas. Uma Isospora sp. foi encontrada em Turdus merula Linnaeus, 1758 e uma Eimeria sp. foi encontrada em Fulica atra Linnaeus, 1758. Entre as espécies de coccídios, Avispora bubonis (Cawthorn, Stockdale, 1981) pode ser destacada. O encontro dessa espécie indica que a transmissão de coccídios do Novo Mundo para o Velho Mundo pode estar ocorrendo, potencialmente através da dispersão por Bubo scandiacus (Linnaeus, 1758) pelas regiões árticas ou por meio de atividades antrópicas, e/ou através de outros mecanismos desconhecidos.

Neurofibromatose Plexiforme Lombosacral ­ Relato de Caso e Revisão da Literatura / Plexiforms Neurofibromatosis ­ Case Report and Review of Literature

Objetivo: Os autores apresentam um caso de neurofibromatose, com múltiplos neurofibromas nos plexos lombar e sacral. Material e Métodos: Relato de caso de Neurofibromatose de plexo lombar. A tomografia demonstrou lesões hipoatenuantes acometendo as regiões supracitadas. Conclusão: o diagnóstico diferencial deve ser feito com linfoadenopatias ou abscessos, sendo que, a RMN foi útil para a melhor caracterização dos neurofibromas e diagnóstico diferencial

Objective: The author report a case of neurofibromatosis with multiple plexiform neurofibromes in lombar and sacral plexus. Method: Case report of plexus neurofibromatosis. Computed tomography showed markedly hypodense lesions involving both plexus, wich could mimic other diseases. Conclusion: Magnetic resonance imaging was useful to better evaluate the extension of neurofibromas