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, inelegíveis, 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 clínicos recolhidos englobaram o diagnóstico subjacente, as intervenções terapêuticas prévias à NIV, as intercorrências relacionadas com a NIV e a evolução clínica. Resultados: Quarenta (59%) crianças eram do sexo masculino, idade média no início 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 clínica, 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, incluíndo 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