AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance

Dancing, which is integrally related to music, likely has its origins close to the birth of Homo sapiens, and throughout our history, dancing has been universally practiced in all societies. We hypothesized that there are differences among individuals in aptitude, propensity, and need for dancing that may partially be based on differences in common genetic polymorphisms. Identifying such differences may lead to an understanding of the neurobiological basis of one of mankind's most universal and appealing behavioral traits—dancing. In the current study, 85 current performing dancers and their parents were genotyped for the serotonin transporter (SLC6A4: promoter region HTTLPR and intron 2 VNTR) and the arginine vasopressin receptor 1a (AVPR1a: promoter microsatellites RS1 and RS3). We also genotyped 91 competitive athletes and a group of nondancers/nonathletes (n = 872 subjects from 414 families). Dancers scored higher on the Tellegen Absorption Scale, a questionnaire that correlates positively with spirituality and altered states of consciousness, as well as the Reward Dependence factor in Cloninger's Tridimensional Personality Questionnaire, a measure of need for social contact and openness to communication. Highly significant differences in AVPR1a haplotype frequencies (RS1 and RS3), especially when conditional on both SLC6A4 polymorphisms (HTTLPR and VNTR), were observed between dancers and athletes using the UNPHASED program package (Cocaphase: likelihood ratio test [LRS] = 89.23, p = 0.000044). Similar results were obtained when dancers were compared to nondancers/nonathletes (Cocaphase: LRS = 92.76, p = 0.000024). These results were confirmed using a robust family-based test (Tdtphase: LRS = 46.64, p = 0.010). Association was also observed between Tellegen Absorption Scale scores and AVPR1a (Qtdtphase: global chi-square = 26.53, p = 0.047), SLC6A4 haplotypes (Qtdtphase: chi-square = 2.363, p = 0.018), and AVPR1a conditional on SCL6A4 (Tdtphase: LRS = 250.44, p = 0.011). Similarly, significant association was observed between Tridimensional Personality Questionnaire Reward Dependence scores and AVPR1a RS1 (chi-square = 20.16, p = 0.01). Two-locus analysis (RS1 and RS3 conditional on HTTLPR and VNTR) was highly significant (LRS = 162.95, p = 0.001). Promoter repeat regions in the AVPR1a gene have been robustly demonstrated to play a role in molding a range of social behaviors in many vertebrates and, more recently, in humans. Additionally, serotonergic neurotransmission in some human studies appears to mediate human religious and spiritual experiences. We therefore hypothesize that the association between AVPR1a and SLC6A4 reflects the social communication, courtship, and spiritual facets of the dancing phenotype rather than other aspects of this complex phenotype, such as sensorimotor integration

Follow-Up of Patients With Axial Spondyloarthritis in Specialist Health Care With Remote Monitoring and Self-Monitoring Compared With Regular Face-to-Face Follow-Up Visits (the ReMonit Study) : Protocol for a Randomized, Controlled Open-Label Noninferiority Trial

Funding Information: The ReMonit study and the qualitative substudy received funding from the South-Eastern Norway Regional Health Authority (funding number 2021062) and the Centre for Treatment of Rheumatic and Musculoskeletal Diseases (REMEDY), Diakonhjemmet Hospital, Norway (funding number 328657).Peer reviewe

Efficacy of house dust mite sublingual immunotherapy in patients with atopic dermatitis: a randomized, double-blind, placebo-controlled trial

Introdução: Sensibilização a ácaros da poeira domiciliar é frequente entre os pacientes com dermatite atópica (DA). Objetivos: Investigar a eficácia da imunoterapia sublingual (ITSL) com extrato de ácaro Dermatophagoides pteronyssinus (Dpt) em pacientes com DA e alérgicos a ácaros. Casuística e Método: Neste ensaio clínico randomizado, duplo-cego, placebo-controlado, recrutaram-se 91 pacientes com idade &ge; 3 anos, com SCORing Atopic Dermatitis (SCORAD) &ge; 15 e prick test e/ou IgE para Dpt positivos. Pacientes foram estratificados de acordo com a idade (<12 e &ge; 12 anos) para receber ITSL ou placebo por 18 meses. O desfecho primário foi a queda de &ge; 15 pontos no SCORAD. Desfechos secundários foram quedas no SCORAD e SCORAD objetivo (OSCORAD), Eczema Area and Severity Index (EASI), escala analógica de sintomas (VAS), escala de prurido; Avaliação global do investigador (IGA) 0/1; e queda &ge; 4 pontos no Dermatology Life Quality Index (DLQI). A terapêutica de base foi mantida, incluindo imunossupressores. Resultados: Sessenta e seis pacientes completaram o estudo (35 ITSL, 31 placebo). Após 18 meses, 74,2% e 58% pacientes em ITSL e placebo, respectivamente, atingiram queda no SCORAD &ge; 15 pontos (risco relativo [RR] 1,28, 95% intervalo de confiança [IC] 0,89-1,83). Queda significante no SCORAD inicial de 55,6% e 34,5% no grupo ITSL e placebo (diferença média 20,4; 95% IC 3,89-37,3); redução significante no O-SCORAD de 56,8% e 34,9% no grupo ITSL e placebo (diferença média 21,3; 95% IC 0,66-41,81); e mais pacientes com IGA 0/1 no grupo ITSL comparado ao placebo (14/35 vs 5/31; RR 2,63, 95% IC 1,09-6,39), foram observados aos 18 meses. Não foram observadas diferenças significantes nos valores de EASI, VAS e DLQI. Conclusão: Nossos resultados sugerem que a ITSL com extrato de ácaro pode ser efetiva como terapia adicional nos pacientes com DA e alérgicos a ácaros.Background: Sensitization to house dust mites (HDM) is frequent in patients with atopic dermatitis (AD). Objectives: The objective of this trial was to investigate the efficacy of sublingual immunotherapy (SLIT) with Dermatophagoides pteronyssinus (Dpt) extract in patients with AD allergic to HDM. Methods: In this randomized, double-blind, placebocontrolled trial, we enrolled 91 patients aged &ge; 3 years, with SCORing Atopic Dermatitis (SCORAD) &ge; 15 and positive skin test and/or IgE to Dpt. Patients were stratified according to age (<12 and &ge; 12 years) to receive HDM SLIT or placebo for 18 months. Primary outcome was a &ge; 15 point decrease in SCORAD. Secondary outcomes were decreases in SCORAD and objective SCORAD (O-SCORAD), Eczema Area and Severity Index (EASI), visual analog scale (VAS) for symptoms, pruritus scale; Investigator´s Global Assesment (IGA) 0/1; and decrease &ge; 4 points in Dermatology Life Quality Index (DLQI). Background therapy was maintained. Results: Sixty-six patients completed the study (35 HDM SLIT, 31 placebo). After 18 months, 74.2% and 58% patients in HDM SLIT and placebo groups, respectively, showed &ge; 15-point decrease in SCORAD (relative risk [RR] 1.28, 95% confidence interval [CI] 0.89-1.83). Significant SCORAD decreases from baseline of 55.6% and 34.5% in HDM SLIT and placebo groups (mean difference 20.4; 95% CI 3.89-37.3); significant O-SCORAD decreases of 56.8% and 34.9% in HDM SLIT and placebo groups (mean difference 21.3; 95% CI 0.66- 41.81); and more patients with IGA 0/1 in HDM SLIT group as compared to placebo group (14/35 vs 5/31; RR 2.63, 95% CI 1.09-6.39), were observed at 18 months. There was no significant difference in EASI, VAS, and DLQI values. Conclusion: Our results suggest that HDM SLIT may be effective in HDM allergic patients as an add-on treatment for AD

Follow-Up of Patients With Axial Spondyloarthritis in Specialist Health Care With Remote Monitoring and Self-Monitoring Compared With Regular Face-to-Face Follow-Up Visits (the ReMonit Study): Protocol for a Randomized, Controlled Open-Label Noninferiority Trial

Background: Patients with chronic inflammatory joint diseases such as axial spondyloarthritis have traditionally received regular follow-up in specialist health care to maintain low disease activity. The follow-up has been organized as prescheduled face-to-face visits, which are time-consuming for both patients and health care professionals. Technology has enabled the remote monitoring of disease activity, allowing patients to self-monitor their disease and contact health care professionals when needed. Remote monitoring or self-monitoring may provide a more personalized follow-up, but there is limited research on how these follow-up strategies perform in maintaining low disease activity, patient satisfaction, safety, and cost-effectiveness. Objective: The Remote Monitoring in Axial Spondyloarthritis (ReMonit) study aimed to assess the effectiveness of digital remote monitoring and self-monitoring in maintaining low disease activity in patients with axial spondyloarthritis. Methods: The ReMonit study is a 3-armed, single-site, randomized, controlled, open-label noninferiority trial including patients with axial spondyloarthritis with low disease activity (Ankylosing Spondylitis Disease Activity Score Results: The project is funded by the South-Eastern Norway Regional Health Authority and Centre for the treatment of Rheumatic and Musculoskeletal Diseases (REMEDY), Diakonhjemmet Hospital, Norway. Enrollment started in September 2021 and was completed with 242 patients by June 2022. The data collection will be completed in December 2023. Conclusions: To our knowledge, this trial will be among the first to evaluate the effectiveness, safety, and cost-effectiveness of remote digital monitoring and self-monitoring of patients with axial spondyloarthritis compared with usual care. Hence, the ReMonit study will contribute important knowledge to personalized follow-up strategies for patients with axial spondyloarthritis. These results may also be relevant for other patient groups with inflammatory joint diseases

Correction: AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance.

[This corrects the article DOI: 10.1371/journal.pgen.0010042.]

Nefrolitíase em pacientes pediátricos: investigação metabólica e anatômica

Desordens metabólicas são frequentes em pacientes com nefrolitíase pediátrica. OBJETIVOS: Estudar as alterações metabólicas e anatômicas e a análise química dos cálculos encontrados em pacientes da nossa região. MÉTODOS: Este é um estudo retrospectivo em 158 crianças com evidência de formação recente de cálculos, destes apenas 109 concluíram a investigação metabólica. A investigação laboratorial consistiu de duas amostras de urina de 24 horas com dosagem de cálcio, ácido úrico, citrato, oxalato, sódio e creatinina, cistinúria qualitativa, pH urinário seguido de 12 horas de jejum e restrição hídrica, cultura da urina e análise química quando os cálculos foram disponíveis. As técnicas de imagem incluíram ultrassonografia do trato urinário e urografia excretora. RESULTADOS: Em 96,3% das crianças alguma causa foi detectada. A principal alteração metabólica encontrada foi a hipercalciúria (73,4%). Análise química dos cálculos mostrou oxalato de cálcio em 90,9% dos casos. Alterações anatômicas foram encontradas em 18,0% dos pacientes investigados, e a mais frequente foi a duplicação pieloureteral (28,6%). CONCLUSÕES:Hipercalciúria foi a desordem mais encontrada, a alteração anatômica mais comum foi a duplicação pieloureteral e oxalato de cálcio foi o constituinte químico mais frequente. Este trabalho serviu para o conhecimento das características dos pacientes pediátricos portadores de nefrolitíase em nossa região

Distribution of TAS in Female Dancers and Nondancers/Nonathletes

<p>Distribution of TAS in Female Dancers and Nondancers/Nonathletes</p

Epistatic Interaction between <i>AVPR1a</i> and <i>SLC6A4</i> Contributes to the Creative Dance Phenotype

<p>Promoter region polymorphisms in the AVPR1a receptor region possibly contribute to regional differences in brain arginine receptor 1a expression patterns [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0010042#pgen-0010042-b42" target="_blank">42</a>]. Vasopressin release, and subsequent AVPR1a receptor activation, is partially regulated by serotonin (5-HT) [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0010042#pgen-0010042-b28" target="_blank">28</a>]. 5-HT is removed from the synapse by the serotonin transporter <i>(SLC6A4),</i> which plays a major role in regulation of synaptic levels of this neurotransmitter. In turn, synaptic <i>SLC6A4</i> mRNA and protein levels are controlled in part by the presence or absence of a promoter region 44-bp insertion/deletion [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0010042#pgen-0010042-b19" target="_blank">19</a>]. Subjects with polymorphic variants of these two genes are therefore predicted to show differences in serotonergic and vasopressin tone that contribute to differences in higher psychological constructs including TPQ Reward Dependence (associated with <i>AVPR1a</i> and <i>AVPR1a</i> × <i>SLC6A4</i> gene × gene interaction) and TAS (associated with <i>SLC6A4</i> and <i>AVPR1a</i> × <i>SLC6A4</i> gene × gene interaction). Dancers score high on these two personality constructs, suggesting the hypothesis that the association between <i>AVPR1a</i> and <i>SLC6A4</i> polymorphisms and dancing is likely mediated by the action of these two genes primarily on social communication (measured by TPQ Reward Dependence scores) and spirituality (measured by TAS scores). Similar to genes contributing to other complex traits, there are no “dancing” genes but rather common polymorphisms that contribute to simpler endophenotypes [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0010042#pgen-0010042-b77" target="_blank">77</a>], such as TPQ Reward Dependence and TAS, that constitute some of the critical psychological underpinnings of the dance phenotype.</p