The Experiences of Late-diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism Phenotype

We used Framework Analysis to investigate the female autism phenotype and its impact upon the under-recognition of autism spectrum conditions (ASC) in girls and women. Fourteen women with ASC (aged 22-30 years) diagnosed in late adolescence or adulthood gave in-depth accounts of: 'pretending to be normal'; of how their gender led various professionals to miss their ASC; and of conflicts between ASC and a traditional feminine identity. Experiences of sexual abuse were widespread in this sample, partially reflecting specific vulnerabilities from being a female with undiagnosed ASC. Training would improve teachers' and clinicians' recognition of ASC in females, so that timely identification can mitigate risks and promote wellbeing of girls and women on the autism spectrum

Estimating the success of enzyme bioprospecting through metagenomics: current status and future trends

Recent reports have suggested that the establishment of industrially relevant enzyme collections from environmental genomes has become a routine procedure. Across the studies assessed, a mean number of approximately 44 active clones were obtained in an average size of approximately 53 000 clones tested using naie screening protocols. This number could be significantly increased in shorter times when novel metagenome enzyme sequences obtained by direct sequencing are selected and subjected to high-throughput expression for subsequent production and characterization. The pre-screening of clone libraries by naive screens followed by the pyrosequencing of the inserts allowed for a 106-fold increase in the success rate of identifying genes encoding enzymes of interest. However, a much longer time, usually on the order of years, is needed from the time of enzyme identification to the establishment of an industrial process. If the hit frequency for the identification of enzymes performing at high turnover rates under real application conditions could be increased while still covering a high natural diversity, the very expensive and time-consuming enzyme optimization phase would likely be significantly shortened. At this point, it is important to review the current knowledge about the success of fine-tuned naie-and sequence-based screening protocols for enzyme selection and to describe the environments worldwide that have already been subjected to enzyme screen programmes through metagenomic tools. Here, we provide such estimations and suggest the current challenges and future actions needed before environmental enzymes can be successfully introduced into the market

A clinical case of mesenteric panniculitis associated with chronic gastritis and biliary lithiasis – diagnosis, treatment and morbidity

A paniculite mesentérica é uma doença inflamatória crónica fibrosante, rara, que afecta o tecido adiposo do mesentério. A sua etiologia é desconhecida e a apresentação clínica variável, o que torna o diagnóstico particularmente difícil, sendo habitual- mente sugerido por tomografia computorizada e confirmado por biópsia. O tratamento é essencialmente empírico, médico (in- cluindo corticóides) ou cirúrgico. Apesar de ter, geralmente, um curso benigno, pode estar associada a morbilidade significativa. Apresentamos o caso de uma doente de 84 anos, internada por estado confusional agudo, dor abdominal difusa, recusa alimentar e vómitos pós-prandiais. Ao exame objectivo, sem alterações valorizáveis, além da dor à palpação abdominal. A investigação subsequente revelou a existência de anemia perniciosa, gastrite crónica, angiodisplasia duodenal e também paniculite mesentérica, Após 2 meses medicada com prednisolona 40 mg/dia, verificou-se resolução sintomática e imagiológica. Infelizmente, a doente veio a falecer na sequência de pneumonia associada aos cuidados de saúde

The role of vitamin d in insulin resistance in the elderly

Introdução: A hipovitaminose D tem grande impacto a nível mundial estimando-se a sua prevalência em 52 a 77%. Vários estudos têm demonstrado haver correlação entre baixos níveis séricos de 25-hidroxivitamina D e o risco aumentado de diabetes mellitus tipo 2. Este estudo teve como objectivo investigar o efeito da correcção da hipovitaminose D na insulinorresistência. Métodos: Foi utilizada uma amostra de conveniência com 10 doentes (6 mulheres e 4 homens) suplementados com vitamina D durante 4 meses. Como critérios de inclusão foram consideradas: idade superior a 65 anos, insulinorresistência – homeostasis model assesment 1 (HOMA-1) superior a 2 e hipovitaminose D (25-hidroxivitamina D sérica inferior a 30 ng/ml). Como critérios de exclusão foram considerados: diagnóstico prévio de diabetes mellitus tipo 2, glicémia em jejum superior ou igual a 126 mg/dl, terapêutica com antidiabéticos ou corticoterapia, suplementação com vitamina D nos últimos 6 meses e hipercalcémia (cálcio corrigido para a albumina ≥10,5 mg/dl). Resultados: Verificou-se um aumento estatisticamente significativo nos níveis séricos de 25-hidroxivitamina D após suplementação, mas não no HOMA-1. Discussão: Dada a pequena dimensão da amostra e a restrição dos critérios de inclusão, serão necessários mais estudos para perceber a relação da hipovitaminose D com a insulinorresistência e assim com o aumento do risco para diabetes mellitus tipo 2.info:eu-repo/semantics/publishedVersio

An oportunity to treat

A neurocisticercose é a infecção parasitária mais comum do sistema nervoso central e a principal causa de epilepsia nos países em desenvolvimento. As manifestações clínicas mais comuns são convulsões, cefaleia, hipertensão intracraniana, demência, meningite, síndrome medular e alterações psíquicas. Apresenta-se o caso de um homem de 39 anos com hábitos etanólicos, admitido no Serviço de Urgência (SU) por agitação psicomotora e tremor dos membros superiores. Ao exame objectivo encontrava-se orientado, sem sinais focais ou outras alterações a destacar. Na avaliação neuroimagiológica objectivadas múltiplas formações quísticas nodulares com imagem punctiforme central, favorecendo a presença de neurocisticercose em fase quístico nodulares. O quadro foi interpretado como manifestações de privação etanólica, sem relação com os achados imagiológicos. Iniciou terapêutica com albendazol e foi encaminhado à consulta de Neurologia. Este caso demonstra que a admissão no SU, por motivos alheios à neurocistiscercose, constituiu um vector para o seu diagnóstico, investigação e tratamento.info:eu-repo/semantics/publishedVersio

Microbial diversity of a disused copper mine site (Parys Mountain, UK), dominated by intensive eukaryotic filamentous growth

The Parys Mountain copper mine (Wales, UK) contains a wide range of discrete environmental microniches with various physicochemical conditions that shape microbial community composition. Our aim was to assess the microbial community in the sediments and overlying water column in an acidic mine drainage (AMD) site containing abundant filamentous biogenic growth via application of a combination of chemical analysis and taxonomic profiling using 16S rRNA gene amplicon sequencing. Our results were then compared to previously studied sites at Parys Mt. Overall, the sediment microbiome showed a dominance of bacteria over archaea, particularly those belonging to Proteobacteria (genera Acidiphilium and Acidisphaera), Acidobacteriota (subgroup 1), Chloroflexota (AD3 cluster), Nitrospirota (Leptospirillum) and the uncultured Planctomycetota/CPIa-3 termite group. Archaea were only present in the sediment in small quantities, being represented by the Terrestrial Miscellaneous Euryarchaeota Group (TMEG), Thermoplasmatales and Ca. Micrarchaeota (Ca. Micracaldota). Bacteria, mostly of the genera Acidiphilium and Leptospirillum, also dominated within the filamentous streamers while archaea were largely absent. This study found pH and dissolved solutes to be the most important parameters correlating with relative proportions of bacteria to archaea in an AMD environment and revealed the abundance patterns of native acidophilic prokaryotes inhabiting Parys Mt sites and their niche specificities

A common problem with a tragic end

info:eu-repo/semantics/publishedVersio

Controlled manipulation of enzyme specificity through immobilization-induced flexibility constraints

It is thought that during immobilization enzymes, as dynamic biomolecules, may become distorted and this may alter their catalytic properties. However, the effects of different immobilization strategies on enzyme rigidity or flexibility and their consequences in specificity and stereochemistry at large scale has not been yet clearly evaluated and understood. This was here investigated by using as model an ester hydrolase, isolated from a bacterium inhabiting a karstic lake, with broad substrate spectrum (72 esters being converted; 61.5 U mg$^{-1}$ for glyceryl tripropionate) but initially non-enantiospecific. We found that the enzyme (7 nm × 4.4 nm × 4.2 nm) could be efficiently ionic exchanged inside the pores (9.3 nm under dry conditions) of amino-functionalized ordered mesoporous material (NH$_{2}$-SBA-15), achieving a protein load of 48 mg g−1, and a specific activity of 4.5 ± 0.1 U mg$^{-1}$. When the enzyme was site-directed immobilized through His interaction with an immobilized cationon the surface of two types of magnetic micro-particles through hexahistidine-tags, protein loads up to 10.2 μg g$^{-1}$ and specific activities of up to 29.9 ± 0.3 U mg$^{-1}$, were obtained. We found that ionically exchanged enzyme inside pores of NH2-SBA-15 drastically narrowed the substrate range (17 esters), to an extent much higher than ionically exchanged enzyme on the surface of magnetic micro-particles (up to 61 esters). This is attributed to differences in surface chemistry, particle size, and substrate accessibility to the active site tunnel. Our results also suggested, for the first time, that immobilization of enzymes in pores of similar size may alter the enzyme structures and produce enzyme active centers with different configuration which promote stereochemical conversions in a manner different to those arising from surface immobilization, where the strength of the ionic exchange also has an influence. This was shown by demonstrating that when the enzyme was introduced inside pores with a diameter (under dry conditions) slightly higher than that of the enzyme crystal structure a biocatalyst enantiospecific for ethyl (R)-4-chloro-3-hydroxybutyrate was produced, a feature not found when using wider pores. By contrast, immobilization on the surface of ferromagnetic microparticles produced selective biocatalysts for methyl (S)-(+)-mandelate or methyl (S)-lactate depending on the functionalization. This study illustrates the benefits of extensive analysis of the substrate spectra to better understand the effects of different immobilization strategies on enzyme flexibility/rigidity, as well as substrate specificity and stereochemistry. Our results will help to design tunable materials and interfaces for a controlled manipulation of specificity and to transform non-enantiospecific enzymes into stereo-chemically substrate promiscuous biocatalysts capable of converting multiple chiral molecules

The victorious English language: hegemonic practices in the management academy

This study explores hegemonic linguistic processes, that is, the dominant and unreflective use of the English language in the production of textual knowledge accounts. The authors see the production of management knowledge as situated in central or peripheral locations, which they examine from an English language perspective. Their inquiry is based on an empirical study based on the perspectives of 33 management academics (not English language speakers) in (semi) peripheral locations, who have to generate and disseminate knowledge in and through the English language. Although the hegemony of the center in the knowledge production process has long been acknowledged, the specific contribution of this study is to explore how the English language operates as part of the “ideological complex” that produces and maintains this hegemony, as well as how this hegemony is manifested at the local level of publication practices in peripherally located business and management schools