6 research outputs found
Chronic wasting disease risk assessment in Portugal: analysis of variability and genetic structure of the Portuguese roe deer population
Among the Transmissible Spongiform
Encephalopathies, Chronic Wasting Disease (CWD) in
cervids is now the rising concern in wildlife within
Europe after the first case detected in Norway in
2016. CWD shows a notable horizontal transmission,
affecting both free-ranging and captive cervids.
Furthermore, several genetic variants in the Prion
Protein (PRNP) gene coding sequence of the cervid
were identified, which increase the susceptibility to
the disease.This work was supported by the project
WastingPrionRisk [POCI-01-0145-FEDER-029,947/
PTDC/CVT-CVT/29947/2017] funded by the
Portuguese Foundation for Science and Technology
(FCT). FCT PhD grant [SFRH/BD/146961/2019]
financed by FCT through FSE (Fundo Social
Europeu). This work was also supported by national
funds [UIDB/CVT/00772/2020], [LA/P/0059/2020] and
[UIDB/04033/2020] by FCT.info:eu-repo/semantics/publishedVersio
Nonâinvasive ventilation in complex obstructive sleep apnea â A 15âyear experience of a pediatric tertiary center
Introduction: Obstructive sleep apnea (OSA) affects approximately 1â3% of pediatric population and is associated with significant morbidity. As adenotonsillar hypertrophy (ATH) is its primary cause in children, elective adenotonsillectomy is the first treatment of choice. Noninvasive ventilation (NIV) has been increasingly considered as an option, mainly for children with complex diseases, ineligible or waiting for surgeries, or after surgery failure. Objectives: To describe the experience in the management of children with complex OSA, and to evidence the feasibility and advantages of NIV. Methods: This was a retrospective cohort study of 68 children on NIV, in whom complex OSA was the main indication for ventilation, in a Pediatric Respiratory Unit at a University Hospital between January 1997 and March 2012. Demographic and clinical data were collected on the underlying diagnosis, therapeutic interventions prior to NIV, NIV related issues and outcome. Results: Forty (59%) children were male, median age at starting NIV was 6 years and 7 months, with interquartile range (IQR) of 15â171 months. Twentyâtwo (32%) were infants and 25 (37%) adolescents.The most common diagnosis was congenital malformations and genetic disorders in 34 (50%) patients. Nine patients had cerebral palsy, 8 were post treatment for central nervous system tumors and 6 had inborn errors of metabolism. Three children had ATH and three obesity. The majority of patients (76%) had exclusively obstructive OSA and started CPAP. Ten patients had minor complications. Twentyâtwo patients stopped NIV due to clinical improvement, 8 were nonâcompliant and 8 patients died. NIV median duration was 21.5 months (IQR: 7â72). Conclusions: NIV is feasible and well tolerated by children with OSA associated with complex disorders, and has been shown to have few complications even in infants and toddlers. Resumo: Introdução: A apneia obstrutiva do sono (OSA) afeta aproximadamente 1â3% da população pediátrica e está associada com uma morbidade significativa. Como a hipertrofia adenotonsiliana (ATH) é a sua principal causa, a adenocele eletiva é a primeira opção terapêutica. A ventilação não invasiva (VNI) tem sido cada vez mais considerada como uma opção, principalmente para as crianças com doenças complexas, inelegÃveis, à espera de cirurgias ou após falência do tratamento cirúrgico. Objetivos: Descrever a experiência no tratamento de crianças com OSA complexo e avaliação da viabilidade e das vantagens do NIV. Métodos: Estudo de coorte retrospetivo de 68 crianças em NIV, onde o complexo OSA foi a principal indicação para ventilação, numa Unidade Respiratória Pediátrica de um Hospital Universitário entre janeiro de 1997 e março de 2012. Os dados demográficos e clÃnicos recolhidos englobaram o diagnóstico subjacente, as intervenções terapêuticas prévias à NIV, as intercorrências relacionadas com a NIV e a evolução clÃnica. Resultados: Quarenta (59%) crianças eram do sexo masculino, idade média no inÃcio da NIV foi de 6 anos e 7 meses, com intervalo interquartil (IQR) de 15â171 meses. Vinte e duas (32%) eram crianças e 25 (37%) adolescentes.O diagnóstico mais comum foram as malformações congénitas e as doenças genéticas em 34 (50%) pacientes. Nove pacientes tiveram paralisia cerebral, 8 sequelas de pósâtratamento para tumores do sistema nervoso central e seis sofriam de erros inatos do metabolismo. Três crianças sofriam de ATH e três de obesidade. A maioria dos pacientes (76%) sofria exclusivamente de OSA obstrutiva e iniciou CPAP. Dois doentes sofriam complicações menores. Vinte e dois doentes pararam o NIV, devido a melhoria clÃnica, 8 eram nãoâconformes e 8 morreram. A duração média do NIV foi 21,5 meses (IQR: 7â72). Conclusões: A NIV é uma terapia viável e bem tolerada em crianças com OSA e doenças complexas, com poucas complicações, incluÃndo em bebés e crianças pequenas. Keywords: Noninvasive ventilation, Obstructive sleep apnea, Children, Palavrasâchave: Ventilação não invasiva, Apneia obstrutiva do sono, Criança
Are Western Iberian roe deer populations hotspots of genetic diversity?
Given its geographic isolation, and after the last glaciation, the Iberian Peninsula, become a sanctuary of
plants and animal’s diversification, being considered a hotspot of genetic diversity specially for mammal
species. The roe deer (Capreolus capreolus - CCR), an herbivore ungulate, has a widespread geographical
distribution which extends from the Iberian Peninsula to the north of Scandinavia, being found as well in
Turkey, Israel, and Jordan. C. capreolus populations have been subject to a significant number of fluctuations,
especially due to anthropogenic activities, which led to a decrease in size and distribution. These alterations
combined with translocations of animals of the same species, can lead to meaningful consequences on the
genetic structure, diversity, and fitness of populations.info:eu-repo/semantics/publishedVersio
Analysis of sequence variability of prion protein gene (PRNP) in Portuguese cervid populations species: red deer, fallow deer and roe deer
Transmissible Spongiform Encephalopathy (TSE) or prion diseases are a family of neurodegenerative diseases
caused by lethal infectious pathogens called Prions. Among the transmissible spongiform encephalopathies
(TSEs), chronic wasting disease (CWD) in cervids is now the rising concern in wildlife within Europe, after the
first case was detected in Norway in 2016, in a wild reindeer and until October 2021, a total of 40 cases were
described in Norway, Sweden and Finland. The study of the genetics of the prion protein gene, PRNP, has
been proved to be a valuable tool for determining the relative susceptibility to TSEs.info:eu-repo/semantics/publishedVersio