Intoxicação por chumbo e cádmio em trabalhadores de oficinas para reforma de baterias em Salvador, Brasil

A cross-sectional study on lead and cadmium poisoning among workers from the sector engaged in repairing batteries for motor vehicles was carried out. Thirty-nine workers from 19 small establishments, existent in the urban area of Salvador City, State of Bahia, Brazil, were studied. Conditions of hygiene at work place, biological characterization of the workforce and workers' perception of occupational hazards were evaluated and related to blood levels of cadmium, lead, erythroprotoporphyrin and hematocrit. Concentrations of cadmium and lead in blood were determined by flameless atomic absorption spectrophotometry techniques. Thirty-six (92.3%) out of the 39 workers mentioned that their job could be hazardous to their health. Brazilian legislation on safety, hygiene and occupational medicine considers lead and cadmium poisoning as being professional diseases when occurring among people working on repairing batteries. However, only 7 (17.9%) out the 39 workers knew that they were potentially eligible for benefits from present legislation. None of the 39 workers knew that they had been exposed to cadmium nor about the occupational risks arising from this exposure. Geometric mean and standard deviation of cadmium in blood levels was extremely high (0.074; 2.3 &#181mol/1), with 97.4% of the working population exceeding the reference limit of 0.009 &#181mol/1. Mean level of lead in blood was 2.06; 1.4 &#181mol/l. Only one worker presented blood lead level higher than 3.36 mmol/1, which placed him at a higher risk of presenting clinical lead poisoning. Mean level of erythroprotoporphyrin was 0.86; 3.1 &#181mol/l. Two workers had low hematocrit levels : 37 and 38%, respectively. In the whole group, hematocrit levels were poorly correlated with lead or with cadmium levels in blood. A brief, oriented clinical examination did not reveal any clear cases of lead or cadmium poisoning. Higher levels of cadmium and lead in blood were associated with workers' ages above 19 years of age, with amount of time spent in the activity of repairing batteries, poorly ventilated work place, working in establishments which were not incorporated by big bus enterprises and the lack of knowledge about preventive measures against lead poisoning.Realizou-se estudo de tipo transversal sobre intoxicação por chumbo e cádmio em trabalhadores no setor de reforma de baterias para veículos automotores. Foram estudados 39 trabalhadores procedentes de 19 estabelecimentos de pequeno porte, existentes na zona urbana de Salvador, Ba (Brasil). As condições higiênicas do ambiente de trabalho, características biológicas dos trabalhadores e suas percepções dos riscos ocupacionais foram avaliadas e correlacionadas com níveis hemáticos de cádmio, chumbo, eritroprotoporfirina e hematócrito. As concentrações de chumbo e cádmio no sangue foram determinadas por espectrofotometria de absorção atômica sem chama. Trinta e seis (92,3%) dentre os 39 operários consideraram que a atividade de reformar baterias poderia ser prejudicial à saúde. A legislação brasileira de segurança, higiene e medicina do trabalho considera as intoxicações por chumbo e cádmio como sendo doenças profissionais quando ocorrem em trabalhadores do setor de reforma de baterias. Entretanto, apenas 7 (17,9%) dos 39 operários sabiam que eram potenciais beneficiários desta legislação. Nenhum dos 39 operários sabia que estava exposto ao cádmio nem sobre os riscos ocupacionais decorrentes desta exposição. A média geométrica e o desvio padrão dos níveis de cádmio no sangue estavam extremamente elevados (0,074; 2,3 &#181mol/l), com 97,4% dos operários excedendo o limite de tolerância de 0,009 &#181mol/l. Os valores médios dos níveis de chumbo no sangue e de eritroprotoporfirina foram de 2,06 5; 1,4 e 0,86; 3,1 &#181mol/l, respectivamente. Níveis elevados de chumbo e cádmio no sangue estavam associados a maior idade do operário, maior tempo de serviço na atividade, ventilação insatisfatória do ambiente de trabalho, trabalhar em estabelecimento não incorporado a empresas de ônibus e com o desconhecimento de medidas preventivas contra a intoxicação pelo chumbo

The contribution of X-linked coding variation to severe developmental disorders

Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present. We collected data on clinical features with the use of Human Phenotype Ontology terms, undertook genome sequencing, applied automated variant prioritization on the basis of applied virtual gene panels and phenotypes, and identified novel pathogenic variants through research analysis. RESULTS: Diagnostic yields varied among family structures and were highest in family trios (both parents and a proband) and families with larger pedigrees. Diagnostic yields were much higher for disorders likely to have a monogenic cause (35%) than for disorders likely to have a complex cause (11%). Diagnostic yields for intellectual disability, hearing disorders, and vision disorders ranged from 40 to 55%. We made genetic diagnoses in 25% of the probands. A total of 14% of the diagnoses were made by means of the combination of research and automated approaches, which was critical for cases in which we found etiologic noncoding, structural, and mitochondrial genome variants and coding variants poorly covered by exome sequencing. Cohortwide burden testing across 57,000 genomes enabled the discovery of three new disease genes and 19 new associations. Of the genetic diagnoses that we made, 25% had immediate ramifications for clinical decision making for the patients or their relatives. CONCLUSIONS: Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.)

Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Purpose With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify genetic conditions in neonatal (NICU) and paediatric (PICU) intensive care populations. Methods We performed trio whole genome sequence (WGS) analysis on a prospective cohort of families recruited in NICU and PICU at a single site in the UK. We developed a research pipeline in collaboration with the National Health Service to deliver validated pertinent pathogenic findings within 2andndash;3andnbsp;weeks of recruitment. Results A total of 195 families had whole genome analysis performed (567 samples) and 21% received a molecular diagnosis for the underlying genetic condition in the child. The phenotypic description of the child was a poor predictor of the gene identified in 90% of cases, arguing for gene agnostic testing in NICU/PICU. The diagnosis affected clinical management in more than 65% of cases (83% in neonates) including modification of treatments and care pathways and/or informing palliative care decisions. A 2andndash;3andnbsp;week turnaround was sufficient to impact most clinical decision-making. Conclusions The use of WGS in intensively ill children is acceptable and trio analysis facilitates diagnoses. A gene agnostic approach was effective in identifying an underlying genetic condition, with phenotypes and symptomatology being primarily used for data interpretation rather than gene selection. WGS analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.</p

Effects of Saccharomyces cerevisiae use on ruminal modulation and health of feedlot sheep undergoing dietary changes

The intensification in the ruminant production model is closely linked to an increase in the use of high energy foods. However, the use of this tool triggers important changes in the rumen environment, making the animal susceptible to metabolic disorders. In this sense, the use of additives in the ruminant diet is an effective food strategy, as they act directly on ruminal modulation with performance optimization. The aim of this study was to evaluate the effects of using Saccharomyces cerevisiae-based products during changes in dietary starch concentration on ruminal pH maintenance, performance and metabolism of confined sheep. Twenty adult female sheep weighing 44,7±6,97 were kept in a confined system and divided into three groups: Control (without supplementation; n=6), Cultron X (yeast culture; n=7) and Cultron Pro (hydrolyzed yeast; n=7) administered at a dose of 5g/sheep/day. The diet provided consisted of corn silage and wheat bran, calculated to maintain the requirements of 3% of live weight. The experiment lasted 20 days divided into four periods (1, 2, 3 and 4), alternating between 40 and 60% concentrate with each diet change. The first period was characterized by a highly energetic diet (60% concentrate), followed by second period with a lower energy diet (40% concentrate) and the two subsequent periods following the same format. Blood and ruminal fluid collections were performed at the end of each period, as well as body weight measurements to determine the animals' daily average gain and daily dry matter intake. Blood tests included hematological analysis and biochemical parameters such as glucose, urea, PPT, liver enzymes, acute phase proteins and minerals. There was an increase in GMD in the Cultron X group compared to control, except in the second period. Although ruminal pH did not differ between groups, protozoan motility was better in supplemented animals. The Cultron Pro group showed an increase in PPT in periods 3 and 4 and AST in periods 2 and 3 compared to the control group. There was no difference in the other metabolites. Yeast supplementation was a potential tool in times of food challenge, being the most effective yeast culture in improving performance of confined sheep.Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPESA intensificação no modelo produtivo de ruminantes está intimamente ligada a um incremento na utilização de alimentos com alto teor de energia. Entretanto, o uso dessa ferramenta desencadeia alterações importantes no ambiente ruminal, tornando o animal suscetível a desordens metabólicas. Nesse sentido, a utilização de aditivos na dieta de ruminantes é uma estratégia alimentar eficaz, uma vez que atuam diretamente na modulação ruminal com otimização do desempenho. O objetivo do estudo foi avaliar os efeitos da utilização de produtos à base de Saccharomyces cerevisiae durante mudanças na concentração de amido da dieta sobre a manutenção do pH ruminal, desempenho e metabolismo de ovinos confinados. Para tanto, foram utilizadas 20 fêmeas ovinas adultas com peso médio de 44,7±6,97, as quais foram mantidas em sistema confinado e divididas em três grupos: Controle (sem suplementação; n=6), Cultron X (cultura de levedura; n=7) e Cultron Pro (levedura hidrolisada; n=7), administrados na dose de 5g/ovelha/dia. A dieta fornecida era composta por silagem de milho e farelo de trigo, calculada a fim de manter as exigências de 3% do peso vivo. O experimento teve duração de 20 dias divididos em quatro períodos (1, 2, 3 e 4), alternando entre 40 e 60% de concentrado a cada troca de dieta. O primeiro período foi caracterizado por uma dieta altamente energética (60% concentrado), seguido pelo período 2 com uma dieta com menor teor de energia (40% concentrado) e os dois períodos subsequentes seguindo o mesmo formato. Foram realizadas coletas de sangue e líquido ruminal ao final de cada período, bem como mensuração do peso corporal a fim de determinar o ganho médio diário dos animais e avaliação da ingestão de matéria seca diariamente. As análises sanguíneas incluíram hemograma e parâmetros bioquímicos como glicose, ureia, PPT, enzimas hepáticas, proteínas de fase aguda e minerais. Houve aumento no GMD no grupo Cultron X em relação ao controle, exceto no segundo período. Apesar do pH ruminal não diferir entre grupos, a motilidade de protozoários foi melhor nos animais suplementados. O grupo Cultron Pro apresentou aumento de PPT nos períodos 3 e 4 e AST nos períodos 2 e 3 em comparação ao grupo controle. Não houve diferença nos demais metabólitos. A suplementação com levedura apresentou-se como uma potencial ferramenta em momentos de desafio alimentar, sendo a cultura de levedura mais eficaz na melhora da performance de ovinos confinados