11 documents found, page 1 of 2

Control of Stemphylium vesicarium in "Rocha" pear using encapsulated essential ...

[Excerpt] Introduction Stemphylium vesicarium is a plant-pathogenic fungus that poses a significant challenge to pear production, where it causes brown spot of pear (BSP) [1]. The "Rocha" pear, an exclusively Portuguese variety of high importance has been experiencing substantial losses due to BSP [2]. The rise of fungicide resistance and concerns about their environmental impact have driven the search for sust...

O fogo bacteriano na produção de peras e maçãs: caracterização da situação naci...

ACAN Pathogenic Variant as a Cause of Short Stature

Pathogenic variants of the aggrecan (ACAN) gene have been associated with a wide spectrum of growth modifications ranging from idiopathic short stature to severe skeletal dysplasia. We reported a case of an 8-year-old male observed in a pediatric endocrinology consultation for short stature (-3.46 standard deviation score). Investigation revealed a bone age advance of less than one year, somatotropin stimulatio...

Dealing with Overfitting in the Context of Liveness Detection Using FeatherNets...

With the increased use of machine learning for liveness detection solutions comes some shortcomings like overfitting, where the model adapts perfectly to the training set, becoming unusable when used with the testing set, defeating the purpose of machine learning. This paper proposes how to approach overfitting without altering the model used by focusing on the input and output information of the model. The inp...

Etiological Investigation of Autism Spectrum Disorders – State of The Art

Autism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the ra...

Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant

Introduction: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. Case Report: We report the case of a girl, the firs...

Etiological Investigation of Autism Spectrum Disorders – State of The Art

Autism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the ra...

Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar ...

The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given ...

Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendation...

In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics of...

Bases moleculares de los defectos en el complejo mitocondrial ETF/ETF-QO

Defectos en el complejo mitocondrial ETF/ETF-QO (ETF - flavoproteína transferidora de electrones; ETFQO - flavoproteína transferidora de electrones ubiquinona oxidorreductasa), resultan en la disfunción secundaria de 11 deshidrogenasas que utilizan este complejo para transferir los electrones a la cadena de transporte electrónico, bloqueando la β-oxidación de los ácidos grasos, de aminoácidos y de la colina. De...