Publications by authors named "Reis K"

Introduction: Varenicline is an α4β2 nicotinic acetylcholine receptor partial agonist with the highest therapeutic efficacy of any pharmacological smoking cessation aid and a 12-month cessation rate of 26%. Genetic variation may be associated with varenicline response, but to date no genome-wide association studies of varenicline response have been published.

Methods: In this study, we investigated the genetic contribution to varenicline effectiveness using two electronic health record-derived phenotypes.

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Purpose: Joint attention predicts later language in Down syndrome (DS) and autism. The co-occurrence of autism in children with DS is 6%-19%, which is higher than in the general population. However, little is known about how co-occurring autism in DS impacts the development of joint attention.

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Background/aims: The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).

Methods: In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits.

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Galactose oxidase, produced by fungi of the genus Fusarium, is an enzyme of great biotechnological importance. The gaoA gene has been recombinantly expressed in several hosts but has yet to be in Saccharomyces cerevisiae. This work aimed to express the Fusarium graminearum GaoA enzyme in S.

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Introduction: Inspiratory muscle training (IMT) has been used in sports to improve factors that can positively influence sports performance. However, the effects of IMT on athletes with disabilities are less well explored. This study aimed to investigate the effects of IMT on the pulmonary function, respiratory muscle strength, aerobic performance, sports skills, and quality of life (QoL) of wheelchair rugby (WCR) athletes.

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Background: Therapeutic targets supported by genetic evidence from genome-wide association studies (GWAS) show higher probability of success in clinical trials. GWAS is a powerful approach to identify links between genetic variants and phenotypic variation; however, identifying the genes driving associations identified in GWAS remains challenging. Integration of molecular quantitative trait loci (molQTL) such as expression QTL (eQTL) using mendelian randomization (MR) and colocalization analyses can help with the identification of causal genes.

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Article Synopsis
  • * The research identified 12 significant genetic markers linked to MG, with certain markers associated specifically with early-onset (under 50) and late-onset (50 and older) forms of the disease.
  • * Additionally, the study highlighted the potential role of genetic factors in determining the age of disease onset and demonstrated that polygenic risk scores could help predict MG status, explaining over 4% of the variation in disease presence.
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Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results.

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Ciprofibrate (CIP) is an active pharmaceutical ingredient (API) classified as class II on the basis of biopharmaceutical classification system (BCS), what indicates that it has low solubility in aqueous solvents. The use of API salts has attracted attention due to their improvements in solubility, tolerability, higher rate and extent of absorption, and faster onset of the therapeutic effect. In this work, a new crystalline CIP monohydrated calcium salt (Ca(CIP).

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Objective: To analyze nurses' practice in child health nursing consultations and the presence of care management competencies proposed for Advanced Practice Nurses (APN).

Method: Multicenter, exploratory sequential mixed methods research, carried out in 17 Basic Health Units in four Brazilian cities. Collection was carried out from May to July 2022 through filming of consultation and analysis of medical records.

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Article Synopsis
  • Psoriasis is a skin disease with about 70% heritability, and a large study with 925,649 individuals was conducted to identify genetic risk factors.
  • Researchers found 6 new risk loci linked to the NF-κB signaling pathway and immunity, highlighting correlations between psoriasis and factors like smoking, body weight, and education level.
  • The study also uncovered causal relationships between psoriasis and mood symptoms, as well as a reciprocal effect with lower education, which could inform future treatment strategies.
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The aim of this split-mouth randomized clinical trial was to evaluate the clinical outcomes (operative time, edema, trismus, and pain), the immediate histological effects, the alveolar repair (2 and 4 months), and the quality of life after the extraction of impacted third molars using high-speed pneumatic and electrical rotation. Sixteen patients underwent extraction of the two mandibular third molars with a minimum interval of 15 days. On one side of the participant's mouth, high-speed pneumatic rotation was used (Control Group-CG) while for the other side, high-speed electrical rotation was used (Study Group-SG).

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Introduction: For people living with HIV/AIDS, care is commonly delivered through Differentiated Service Delivery (DSD). Although people with multidrug-resistant tuberculosis (MDR-TB) and HIV/AIDS experience severe treatment associated challenges, there is no DSD model to support their treatment. In this study, we defined patterns of medication adherence and characterized longitudinal barriers to inform development of an MDR-TB/HIV DSD framework.

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Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide. GDM is related to an increased lifetime risk of type 2 diabetes (T2D), with over a third of women developing T2D within 15 years of their GDM diagnosis. The diseases are hypothesized to share a genetic predisposition, but few studies have sought to uncover the genetic underpinnings of GDM.

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Background: Highly effective, short-course, bedaquiline-containing treatment regimens for multidrug-resistant tuberculosis (MDR-TB) and integrase strand transfer inhibitor (INSTI)-containing fixed dose combination antiretroviral therapy (ART) have radically transformed treatment for MDR-TB and HIV. However, without advances in adherence support, we may not realize the full potential of these therapeutics. The primary objective of this study is to compare the effect of adherence support interventions on clinical and biological endpoints using an adaptive randomized platform.

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Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel).

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A central assumption in the behavioral sciences is that choice behavior generalizes enough across individuals that measurements from a sampled group can predict the behavior of the population. Following from this assumption, the unit of behavioral sampling or measurement for most neuroimaging studies is the individual; however, cognitive neuroscience is increasingly acknowledging a dissociation between neural activity that predicts individual behavior and that which predicts the average or aggregate behavior of the population suggesting a greater importance of individual differences than is typically acknowledged. For instance, past work has demonstrated that some, but not all, of the neural activity observed during value-based decision-making is able to predict not just individual subjects' choices but also the success of products on large, online marketplaces-even when those two behavioral outcomes deviate from one another-suggesting that some neural component processes of decision-making generalize to aggregate market responses more readily across individuals than others do.

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The best amylolytic activity production by Aspergillus clavatus UEM 04 occurred in submersed culture, with starch, for 72 h, at 25 °C, and 100 rpm. Exclusion chromatography partially purified two enzymes, which ran as unique bands in SDS-PAGE with approximately 84 kDa. LC-MS/MS identified a glucoamylase (GH15) and an α-amylase (GH13_1) as the predominant proteins and other co-purified proteins.

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Background: Highly effective, short course, bedaquiline-containing treatment regimens for multidrug-resistant tuberculosis (MDR-TB) and integrase strand transfer inhibitor (INSTI)-containing fixed dose combination antiretroviral therapy (ART) have radically transformed treatment for MDR-TB and HIV. However, without advances in adherence support, we may not realize the full potential of these therapeutics. The primary objective of this study is to compare the effect of adherence support interventions on clinical and biological endpoints using an adaptive randomized platform.

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Objectives: A frequently suggested approach to reduce greenhouse gas emissions (GHGEs) caused by food production is to reduce the intake of animal products, which can create nutritional deficiencies. This study aimed to identify culturally acceptable nutritional solutions for German adults that are both climate friendly and health promoting.

Methods: Linear programming was applied to optimize the food supply for omnivores, pescatarians, vegetarians, and vegans considering nutritional adequacy, health promotion, GHGEs, affordability, and cultural acceptability by approaching German national food consumption.

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Sampling plans are an essential part of integrated pest management programs. Sequential sampling plans enable rapid and low-cost assessment of pest densities. Thrips are emerging pests in soybean crops, and the main method used in pest control is chemical.

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Article Synopsis
  • Population isolates like Finland provide a unique advantage for genetic research by having concentrated deleterious alleles in low-frequency variants due to historical bottlenecks.
  • The FinnGen study aims to analyze data from 500,000 Finnish individuals, focusing on their genomes and health records, particularly as many participants are older and have disease-related data.
  • From the analysis of 224,737 participants and additional biobank data, researchers discovered 30 new associations and a total of 2,733 significant genetic links across various diseases, highlighting the importance of low-frequency variants in understanding common diseases.
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