37 documents found, page 1 of 4

Vinte anos de rastreio neonatal alargado de doenças metabólicas em Portugal (20...

Rastreio neonatal da deficiência em 3-metilcrotonil-CoA carboxilase em Portugal...

A deficiência de 3-methycrotonyl-CoA carboxylase (3-MCC) é uma acidúria orgânica autossómica recessiva que está incluída nos programas de rastreio neonatal de vários países. Neste estudo são apresentados resultados obtidos principalmente do Programa de Rastreio Neonatal, recolhidos ao longo de um período de 19 anos. A análise dos genes MCCC1 e MCCC2 em 67 casos, permitiram identificar 39 mutações novas das quai...

Differential tissue immune stimulation through immersion in bacterial and viral...

The genome evolution of Antarctic notothenioids has been modulated by their extreme environment over millennia and more recently by human -caused constraints such as overfishing and climate change. Here we investigated the characteristics of the immune system in Notothenia rossii and how it responds to 8 h immersion in viral (Poly I:C, polyinosinic: polycytidylic acid) and bacterial (LPS, lipopolysaccharide) pr...

Transcriptomic down-regulation of immune system components in barrier and hemat...

The environmental conditions and isolation in the Antarctic have driven the evolution of a unique biodiversity at a macro to microorganism scale. Here, we investigated the possible adaptation of the teleost Notothenia coriiceps immune system to the cold environment and unique microbial community of the Southern Ocean. The fish immune system was stimulated through an intraperitoneal injection of lipopolysacchari...

Toll-like receptor evolution: does temperature matter?

Toll-like receptors (TLRs) recognize conserved pathogen-associated molecular patterns (PAMPs) and are an ancient and well-conserved group of pattern recognition receptors (PRRs). The isolation of the Antarctic continent and its unique teleost fish and microbiota prompted the present investigation into Tlr evolution. Gene homologues of tlr members in teleosts from temperate regions were present in the genome of ...

Galanin isoforms by alternative splicing: structure, expression, and immunohist...

Galanin (Gal) is a neuropeptide with multiple functions that is widely expressed in the central and peripheral nervous systems of vertebrates. Anatomical and functional evidence suggests a possible role in regulating reproduction in fishes. To test this possibility, we have isolated and characterized two gal alternative transcripts in European sea bass (Dicentrarchus labrax) that encode two prepropeptides, resp...

Clinical, biochemical and molecular findings of 24 Brazilian patients with glut...

Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clinical, biochemical, and molecular findings. Patients were diagnosed by high levels of glutaric and/or 3-hydroxyglutaric and glutarylcarnitine. Diagnosis was confirmed...

LPS modulates the expression of iron-related immune genes in two Antarctic noto...

The non-specific immunity can induce iron deprivation as a defense mechanism against potential bacterial pathogens, but little information is available as to its role in Antarctic fish. In this study the response of iron metabolism related genes was evaluated in liver and head kidney of the Antarctic notothenoids Notothenia coriiceps and Notothenia rossii 7 days after lipopolysaccharide (LPS) injection. Average...

Maternal Glutaric aciduria type I and newborn screening

Introduction: Expanded Newborn Screening (NBS) programs based on MS/MS, result in a massive increase of screened metabolic disorders and detected patients. Alongside with the detection of classical forms of screened metabolic disorders, milder forms (many whose existence was unknown until now) are being detected, representing major challenges in respect to follow up protocols. Disease spectrum of screened disor...

Prematuridade e Rastreio Neonatal

Introdução: Os programas de rastreio neonatal são programas de saúde pública, com o objetivo de uma deteção precoce de recém-nascidos afetados por determinada patologia, com vista a um início atempado do tratamento, que conduza a uma diminuição da morbilidade e mortalidade. Em todo o mundo, a taxa média dos prematuros ao nascimento é estimada em cerca de 10%, tendo a evolução científica e tecnológica no campo d...