Multi-Trait GWAS and new candidate genes annotation for growth curve parameters in Brahman cattle

Understanding the genetic architecture of beef cattle growth cannot be limited simply to the genome-wide association study (GWAS) for body weight at any specific ages, but should be extended to a more general purpose by considering the whole growth trajectory over time using a growth curve approach. For such an approach, the parameters that are used to describe growth curves were treated as phenotypes under a GWAS model. Data from 1,255 Brahman cattle that were weighed at birth, 6, 12, 15, 18, and 24 months of age were analyzed. Parameter estimates, such as mature weight (A) and maturity rate (K) from nonlinear models are utilized as substitutes for the original body weights for the GWAS analysis. We chose the best nonlinear model to describe the weight-age data, and the estimated parameters were used as phenotypes in a multi-trait GWAS. Our aims were to identify and characterize associated SNP markers to indicate SNP-derived candidate genes and annotate their function as related to growth processes in beef cattle. The Brody model presented the best goodness of fit, and the heritability values for the parameter estimates for mature weight (A) and maturity rate (K) were 0.23 and 0.32, respectively, proving that these traits can be a feasible alternative when the objective is to change the shape of growth curves within genetic improvement programs. The genetic correlation between A and K was -0.84, indicating that animals with lower mature body weights reached that weight at younger ages. One hundred and sixty seven (167) and two hundred and sixty two (262) significant SNPs were associated with A and K, respectively. The annotated genes closest to the most significant SNPs for A had direct biological functions related to muscle development (RAB28), myogenic induction (BTG1), fetal growth (IL2), and body weights (APEX2); K genes were functionally associated with body weight, body height, average daily gain (TMEM18), and skeletal muscle development (SMN1). Candidate genes emerging from this GWAS may inform the search for causative mutations that could underpin genomic breeding for improved growth rates

Síndrome da Imunodeficiência adquirida em paciente psiquiátrico internado em Hospital Universitário: Acquired Immunodeficiency syndrome in a psychiatric patient admitted to a University Hospital

A Síndrome da Imunodeficiência Adquirida (SIDA/AIDS) leva a maior susceptibilidade de infecções oportunistas e a estigmatização da doença prejudica a adesão do tratamento. O paciente acometido pelo HIV tem muita suscetibilidade ao surgimento de depressões, alterações cognitivas, sinais e sintomas psiquiátricos e a terapia antirretroviral retarda o quadro de desorientação tempo espacial, assim, a psiquiatria e a neurologia estudam as consequências clínicas do HIV, patologias associadas, e suas complicações psiquiátricas. Objetivou-se avaliar a possível relação entre os transtornos psiquiátricos e o HIV em um paciente com doença psiquiátrica, em um Hospital Universitário, em Recife/Pernambuco. O presente estudo possui aprovação pelo Comitê de Ética em Pesquisa do Centro de Ciências da Saúde da Universidade Federal de Pernambuco (n° 06189212.6.0000.5208). Trata-se de um recorte do projeto sobre doenças infecciosas, realizado na enfermaria de doenças infecciosas e parasitárias, onde se realizou visitas ao paciente, consultando o prontuário e resultados de exames. Homem, 45 anos, portador de SIDA, deprimido com déficit cognitivo, recusa o tratamento, as medicações prescritas e orientações médicas, com alteração física. Faz-se necessário um diagnóstico e tratamento adequado, visando o bem-estar, retardo da evolução das doenças e aceitação de tratamento. O vírus acomete o sistema nervoso central, ocorrendo alterações psiquiátricas, sintomas são de origem psicológica ou relacionados à neuro-transmissão e fisiologia, tratados de forma adequada e separada. Dessa forma, na presença de comorbidades psiquiátricas em paciente soro positivo, o diagnóstico precoce juntamente com a terapia colaborou para retardo da evolução do quadro da infecção e déficit físico do paciente

A etiopatogênese do processo de Restrição de Crescimento Intra-Uterino: um estudo bibliográfico

Revisão bibliográfica, realizada junto aos bancos de dados MEDLINE, SciELO,  ScienceDirect e LILACS, com o objetivo de identificar a produção científica na área de saúde sobre os principais fatores envolvidos na etiopatogênese do processo de Restrição de Crescimento Intra-Uterino (RCIU), entre os anos de 1990 e 2008. A RCIU constitui a segunda causa de mortalidade perinatal. O recém-nascido com RCIU possui um aumento de duas a dez vezes nas porcentagens habituais de mortalidade perinatal e apresenta complicações associadas à prematuridade. A morbidade está diretamente relacionada às alterações metabólicas e imunológicas, desacelerações cardíacas, acidose fetal, baixo Índice de Apgar, hipóxia, hipoglicemia, hipotermia, asfixia, coagulação intravascular disseminada, hemorragia intracraniana e aspiração meconial. A identificação das principais alterações maternas, fetais e neonatais envolvidas no processo de RCIU é de fundamental importância para o planejamento de ações de prevenção e melhora da qualidade da assistência de enfermagem prestada às gestantes no pré-natal, pré-parto, parto e puerpério, bem como ao recém-nascido com RCIU durante o período neonatal. Palavras chave: Enfermagem pediátrica; Gestação; Prematuridade; Retardo do crescimento fetal

Fatores maternos e neonatais associados à prematuridade

A prematuridade representa a causa mais freqüente de morbidade neonatal. O objetivo desse estudo foi realizar um levantamento dos nascimentos de recém-nascidos vivos com menos de 37 semanas completas de gestação e relacionar com as alterações patológicas encontradas. Foram coletados dados referentes à história clínica materna e do neonato. A média da idade gestacional dos 104 RNs estudados foi de 31 semanas ± 4 dias. A média de peso dos prematuros foi de 2350 gramas. Os grupos de doenças de base maternas encontradas foram: hipertensão materna 51 casos (49%), alterações útero-placentárias 21 casos (20,1%), doenças infecciosas 12 casos (11,5%), cardiopatias 9 casos (5,7 %), diabetes 2 casos (1,9%), Síndrome da Imunodeficiência Adquirida 1 caso (0,9%) ainda 8 casos (7,6%) em que não havia registro de doença de base. Entre os grupos de doenças de base fetais o mais freqüente foi o grupo de doenças do aparelho respiratório, com 81 casos (78%). Em nosso estudo, houve diferença estatisticamente significante entre idade gestacional e doença de base materna (p=0,038). A prematuridade continua sendo a principal causa de morbidade e mortalidade neonatal, representando um dos maiores desafios para o fornecimento de uma assistência profissional de qualidade

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030