Relação entre o ruído e as variáveis do processo produtivo na indústria extractiva a céu aberto

O ruído está intimamente associado a todos os processos industriais, sendo os ligados à indústria extractiva dos mais ruidosos. O presente artigo pretende equacionar o estado da arte relativamente a relações entre a variável ocupacional – Ruído e as inerentes ao processo produtivo. Teve por base uma pesquisa bibliográfica, desenvolvida através da combinação de um conjunto de palavras-chave, pré-definidas, diretamente ligadas às varáveis a tratar. Da pesquiza efectuada pode-se concluir que as variáveis inerentes aos equipamentos e respetivas operações são as mais significativas. Foi também verificado que a variável ruído se encontra muitas vezes associada a vibrações transmitidas aos sistemas mão-braço e corpo inteiro e a substâncias ototóxicas. Tal, entre outras causas, faz com que aumente a dificuldade em classificar a PAIR como uma doença profissional. Por último, por envolver custos e redução na produtividade, verificou-se ainda que os trabalhadores com PAIR são mais vulneráveis a acidentes de trabalho

Plasma phospholipidomic profile differs between children with phenylketonuria and healthy children

Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy children (CT) was analysed by HILIC-MS/MS and GC-MS. Using this approach, 187 lipid species belonging to 9 different phospholipid classes and 3 ceramides were identified. Principal component analysis of the lipid species dataset showed a distinction between PKU and CT groups. Univariate analysis revealed that 146 species of phospholipids were significantly different between both groups. Lipid species showing significant variation included phosphatidylcholines, containing polyunsaturated fatty acids (PUFA), which were more abundant in PKU. The high level of PUFA-containing lipid species in children with PKU may be related to a diet supplemented with PUFA. This study was the first report comparing the plasma polar lipidome of PKU and healthy children, highlighting that the phospholipidome of PKU children is significantly altered compared to CT. However, further studies with larger cohorts are needed to clarify whether these changes are specific to phenylketonuric children.publishe

Lipids and phenylketonuria: current evidences pointed the need for lipidomics studies

Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism. The disease is due to the deficiency of phenylalanine (Phe) hydroxylase activity, which causes the accumulation of Phe. Early diagnosis through neonatal screening is essential for early treatment implementation, avoiding cognitive impairment and other irreversible sequelae. Treatment is based on Phe restriction in the diet that should be maintained throughout life. High dietary restrictions can lead to imbalances in specific nutrients, notably lipids. Previous studies in PKU patients revealed changes in levels of plasma/serum lipoprotein lipids, as well as in fatty acid profile of plasma and red blood cells. Most studies showed a decrease in important polyunsaturated fatty acids, namely DHA (22:6n-3), AA (20:4n-6) and EPA (20:5n-6). Increased oxidative stress and subsequent lipid peroxidation have also been observed in PKU. Despite the evidences that the lipid profile is changed in PKU patients, more studies are needed to understand in detail how lipidome is affected. As highlighted in this review, mass spectrometry-based lipidomics is a promising approach to evaluate the effect of the diet restrictions on lipid metabolism in PKU patients, monitor their outcome, namely concerning the risk for other chronic diseases, and find possible prognosis biomarkers.publishe

Mitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studies—a critical review

Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to life-threatening complications and comorbidities. Changes in the lipidome have been associated with several diseases, including some IEMs. In FAODs, the alteration of acylcarnitines (CARs) and FA profiles have been reported in patients and animal models, but changes in polar and neutral lipid profile are still scarcely studied. In this review, we present the main findings on FA and CAR profile changes associated with FAOD pathogenesis, their correlation with oxidative damage, and the consequent disturbance of mitochondrial homeostasis. Moreover, alterations in polar and neutral lipid classes and lipid species identified so far and their possible role in FAODs are discussed. We highlight the need of mass-spectrometry-based lipidomic studies to understand (epi)lipidome remodelling in FAODs, thus allowing to elucidate the pathophysiology and the identification of possible biomarkers for disease prognosis and an evaluation of therapeutic efficacyinfo:eu-repo/semantics/publishedVersio

Phenotyping GABA transaminase deficiency: a case description and literature review

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range  T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.info:eu-repo/semantics/publishedVersio

Mucopolysaccharidosis in the pediatric population: results of an early diagnosis approach in the scope of the FIND project

As Mucopolissacaridoses (MPSs), constituem um subgrupo das Doenças Lisossomais de Sobrecarga, causadas por deficiências em enzimas lisos somais, que catalisam a degradação dos glicosaminoglicanos. As MPSs têm apresentação multissistémica, heterogénea e consequentemente de diagnóstico difícil. O projeto FIND tem como objetivo alertar os clínicos para sinais e sintomas de risco ao mesmo tempo que disponibiliza uma ferramenta de diagnóstico. Este estudo pretende descrever uma abordagem desenvolvida no âmbito do projeto FIND para identificar doentes com mucopolissacaridoses (MPSs) em idade pediátrica, antes do aparecimento dos sintomas mais graves. A identificação atempada permitirá uma intervenção terapêutica precoce, assim como oferecer aconselhamento genético às famílias afetadas. O projeto FIND permitiu a identificação de 12 doentes de MPSs e a sua refe renciação para os respetivos centros de tratamento. Este estudo, para além da sua vertente educativa, coloca à disposição dos clínicos um ótimo meio para a identificação e caraterização de casos sinto máticos de MPS em idade pediátrica.Mucopolysaccharidoses are a subgroup of Lysosomal Storage Disorders characterized by the accumulation of glycosaminoglycans in cells, tissues, and organs due to specific enzyme deficiencies. In early disease stages, diagnosis can be postponed for years or even missed in late onset forms. This study aims to describe an approach developed within the scope of the FIND project to identify patients with mucopolysaccharidoses (MPSs) a in pediatric age, before the appearance of the most severe symptoms, allowing early therapeutic intervention, as well as offering genetic counseling to affected families. The FIND project was designed to claim awareness to the red flags of MPS at pediatric age and to provide a tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy. The clinical suspicion was addressed by performing seven distinct enzymatic assays in dried blood spots. In the cases of a deficiency, the quantification and identification of the glycosaminoglycans were performed and the genetic study carried out. In the first eight years of the project, we have identified twelve patients among the 385 samples received. FIND project allows an early identifica tion and characterization of symptomatic MPSs patient, as well as other related pathologies at pediatric age.info:eu-repo/semantics/publishedVersio

MAMMALS IN PORTUGAL : A data set of terrestrial, volant, and marine mammal occurrences in P ortugal

Mammals are threatened worldwide, with 26% of all species being includedin the IUCN threatened categories. This overall pattern is primarily associatedwith habitat loss or degradation, and human persecution for terrestrial mam-mals, and pollution, open net fishing, climate change, and prey depletion formarine mammals. Mammals play a key role in maintaining ecosystems func-tionality and resilience, and therefore information on their distribution is cru-cial to delineate and support conservation actions. MAMMALS INPORTUGAL is a publicly available data set compiling unpublishedgeoreferenced occurrence records of 92 terrestrial, volant, and marine mam-mals in mainland Portugal and archipelagos of the Azores and Madeira thatincludes 105,026 data entries between 1873 and 2021 (72% of the data occur-ring in 2000 and 2021). The methods used to collect the data were: live obser-vations/captures (43%), sign surveys (35%), camera trapping (16%),bioacoustics surveys (4%) and radiotracking, and inquiries that represent lessthan 1% of the records. The data set includes 13 types of records: (1) burrowsjsoil moundsjtunnel, (2) capture, (3) colony, (4) dead animaljhairjskullsjjaws, (5) genetic confirmation, (6) inquiries, (7) observation of live animal (8),observation in shelters, (9) photo trappingjvideo, (10) predators dietjpelletsjpine cones/nuts, (11) scatjtrackjditch, (12) telemetry and (13) vocalizationjecholocation. The spatial uncertainty of most records ranges between 0 and100 m (76%). Rodentia (n=31,573) has the highest number of records followedby Chiroptera (n=18,857), Carnivora (n=18,594), Lagomorpha (n=17,496),Cetartiodactyla (n=11,568) and Eulipotyphla (n=7008). The data setincludes records of species classified by the IUCN as threatened(e.g.,Oryctolagus cuniculus[n=12,159],Monachus monachus[n=1,512],andLynx pardinus[n=197]). We believe that this data set may stimulate thepublication of other European countries data sets that would certainly contrib-ute to ecology and conservation-related research, and therefore assisting onthe development of more accurate and tailored conservation managementstrategies for each species. There are no copyright restrictions; please cite thisdata paper when the data are used in publications.info:eu-repo/semantics/publishedVersio