RESUMEN
Searching for positive selection signals across genomes has identified functional genetic variants responding to environmental change. In Native Americans of Mexico, we used the fixation index (Fst) and population branch statistic (PBS) to identify SNPs suggesting positive selection. The 103 most differentiated SNPs were tested for associations with metabolic traits, the most significant association was FADS2/rs174616 with body mass index (BMI). This variant lies within a linkage disequilibrium (LD) block independent of previously reported FADS selection signals and has not been clearly associated with metabolic phenotypes. We tested this variant in two independent cohorts with cardiometabolic data. In the Genetics of Atherosclerotic Disease (GEA) cohort, the derived allele (T) was associated with increased BMI, lower LDL-C levels and a decreased risk of subclinical atherosclerosis in women. Significant gene-diet interactions affected lipid, apolipoprotein and adiponectin levels with differences according to sex, involving mainly total and complex dietary carbohydrate%. In the Genotype-related Effects of PUFA trial, the derived allele was associated with lower Δ-6 desaturase activity and erythrocyte membrane dihomo-gamma-linolenic acid (DGLA) levels, and with increased Δ-5 desaturase activity and eicosapentaenoic acid levels. This variant interacted with dietary carbohydrate% affecting Δ-6 desaturase activity. Notably, the relationship of DGLA and other erythrocyte membrane LC-PUFA indices with HOMA-IR differed according to rs174616 genotype, which has implications regarding how these indices should be interpreted. In conclusion, this observational study identified rs174616 as a signal suggesting selection in an independent linkage disequilibrium block, was associated with cardiometabolic and erythrocyte measurements of LC-PUFA in two independent Mexican cohorts and showed significant gene-diet interactions.
RESUMEN
Introduction: School-based health centers (SBHCs) are an evidence-based model for providing contraceptives to adolescents. SBHCs ability to provide reproductive health services is often limited by school district policies, state laws, and health center policies. Methods: We used data from the Teens Exploring and Managing Prevention (TEMPO) study to document demographic characteristics and birth control methods among patients at four SBHCs in New Mexico. A total of 264 teens were included in the baseline data collection at SBHCs in New Mexico. A baseline survey was administered via iPad, that specifically focused on questions related to sexual experiences and sexual health topics. Baseline questions included demographic questions, gender identity, sexual orientation, reasons for visits, reproductive practices, and birth control methods. Descriptive statistics were calculated, including means and standard deviations for continuous variables and categorical frequencies. Results: Our findings present reproductive health behaviors among New Mexican patients attending schools with SBHCs. More than 74% of respondents were Hispanic or Latino. The most common reason teens went to the SBHC was for birth control, and just 62% of teens reported using birth control methods in the past. Discussion: These behaviors are essential for policymakers to consider as they address policy gaps, the complex landscape of parental permission, reproductive rights, and health as a human right.
RESUMEN
Genetic testing is crucial in inherited arrhythmogenic channelopathies; however, the clinical interpretation of genetic variants remains challenging. Incomplete penetrance, oligogenic, polygenic or multifactorial forms of channelopathies further complicate variant interpretation. We identified the KCNQ1/p.D446E variant in 2/63 patients with long QT syndrome, 30-fold more frequent than in public databases. We thus characterized the biophysical phenotypes of wildtype and mutant IKs co-expressing these alleles with the ß-subunit minK in HEK293 cells. KCNQ1 p.446E homozygosity significantly shifted IKs voltage dependence to hyperpolarizing potentials in basal conditions (gain of function) but failed to shift voltage dependence to hyperpolarizing potentials (loss of function) in the presence of 8Br-cAMP, a protein kinase A activator. Basal IKs activation kinetics did not differ among genotypes, but in response to 8Br-cAMP, IKs 446 E/E (homozygous) activation kinetics were slower at the most positive potentials. Protein modeling predicted a slower transition of the 446E Kv7.1 tetrameric channel to the stabilized open state. In conclusion, biophysical and modelling evidence shows that the KCNQ1 p.D446E variant has complex functional consequences including both gain and loss of function, suggesting a contribution to the pathogenesis of arrhythmogenic phenotypes as a functional risk allele.
Asunto(s)
Arritmias Cardíacas , Canalopatías , Canal de Potasio KCNQ1 , Humanos , Alelos , Arritmias Cardíacas/genética , Proteínas Quinasas Dependientes de AMP Cíclico , Células HEK293 , Canal de Potasio KCNQ1/genética , FenotipoRESUMEN
OBJECTIVES: There is minimal research eliciting teen reproductive desires and parenting attitudes. Behavioral, educational, and public health interventions to prevent teen pregnancy often highlight the negative consequences of teen pregnancy or benefits of delaying parenting. However, limited empirical information is available regarding what factors teens perceive to influence the desire to delay pregnancy. In this study, we sought to identify teen perspectives regarding factors that influence their desire to delay parenting. STUDY DESIGN: A consensual qualitative research approach was used to identify reproductive desires, parenting attitudes, and any factors that influence the desire to delay parenting expressed by at risk teens. Forty participants were randomly selected from a larger clinical trial testing the efficacy of a brief, motivational interviewing-based intervention. During the brief intervention, participants were asked about their parenting attitudes and reproductive desires and factors that influence decisions to avoid teen pregnancy. These recorded segments were extracted, transcribed, and thematically analyzed. RESULTS: The study collected qualitative data on overarching key themes regarding teen parenting attitudes and reproductive desires, as well as factors that influence the desire to delay pregnancy, including education, financial stability, partnership, maturity/responsibility, friendships, and family. Many participants indicated that they wanted to delay parenting due to wanting to pursue future goals and/or not feeling ready for the responsibility of children. CONCLUSION: Overall, teens have a variety of reasons for delaying parenting that may not be explicitly captured by the general gain/loss messaging of current interventions. Allowing teens to explore their own beliefs and values around factors that they perceive to influence their desire to delay parenting creates autonomy and places the focus on the teens themselves and not perceived future losses or gains. IMPLICATIONS: This study analyzed the parenting attitudes and reproductive desires of teens undergoing a parenting prevention motivational interviewing intervention. Through a qualitative assessment, this article identifies themes of teen perspectives regarding factors that influence their desire to delay parenting.
Asunto(s)
Responsabilidad Parental , Embarazo en Adolescencia , Investigación Cualitativa , Humanos , Femenino , Adolescente , Embarazo , Responsabilidad Parental/psicología , Responsabilidad Parental/etnología , Embarazo en Adolescencia/prevención & control , Embarazo en Adolescencia/psicología , Embarazo en Adolescencia/etnología , Embarazo no Planeado/psicologíaRESUMEN
The aims of this study were to 1) assess the association between erosive tooth wear (ETW) according to the BEWE (Basic Erosive Wear Examination) scoring system and salivary parameters and 2) compare salivary parameters according to ETW severity in the subgroup of children with ETW. This cross-sectional study included 52 preschool children aged 5 years paired by sex. A calibrated examiner assessed ETW using BEWE criteria, and stimulated saliva was collected to determine salivary flow, osmolality, pH, and buffering capacity. The children were divided into two groups: without ETW (n=26; BEWE score 0) and with ETW (n=26; BEWE scores 1 and 2). Logistic regression analysis was used to determine the magnitude of the association between ETW and salivary parameters and estimates of odds ratios (OR). In the unadjusted analysis, the ETW group was more likely to have lower salivary flow (OR = 0.079; 95%CI = 0.013-0.469; p = 0.005) and lower osmolality (OR = 0.993; 95%CI = 0.985-1.000; p = 0.049). In the adjusted analysis, salivary flow remained significantly associated with ETW (OR = 0.087; 95%CI = 0.014-0.533; p = 0.008). Lower salivary osmolality values were observed in ETW, especially in preschool children with more severe ETW (BEWE score 2). Receiver operating characteristic (ROC) determined a salivary osmolality cutoff point of < 201 for the presence of ETW. In conclusion, salivary flow rate was significantly associated with ETW prevalence. Lower values of salivary osmolality were observed in preschool children with distinct erosive lesions with significant loss of tooth structure (BEWE 2).
Asunto(s)
Erosión de los Dientes , Desgaste de los Dientes , Humanos , Preescolar , Erosión de los Dientes/epidemiología , Erosión de los Dientes/etiología , Estudios Transversales , Saliva , PrevalenciaRESUMEN
The herb of Trigonella caerulea (Fabaceae), commonly known as blue fenugreek, is used for the production of traditional cheese and bread varieties in the Alpine region. Despite its frequent consumption, only one study so far has focused on the constituent pattern of blue fenugreek, revealing qualitative information on some flavor-determining constituents. However, with regard to the volatile constituents present in the herb, the applied methods were insufficient and did not take relevant terpenoids into account. In the present study, we analyzed the phytochemical composition of T. caerulea herb applying a set of analytical methods, such as headspace-GC, GC-MS, LC-MS, and NMR spectroscopy. We thus determined the most dominant primary and specialized metabolites and assessed the fatty acid profile as well as the amounts of taste-relevant α-keto acids. In addition, eleven volatiles were quantified, of which tiglic aldehyde, phenylacetaldehyde, methyl benzoate, n-hexanal, and trans-menthone were identified as most significantly contributing to the aroma of blue fenugreek. Moreover, pinitol was found accumulated in the herb, whereas preparative works led to the isolation of six flavonol glycosides. Hence, our study shows a detailed analysis of the phytochemical profile of blue fenugreek and provides an explanation for its characteristic aroma and its health-beneficial effects.
RESUMEN
Abstract The aims of this study were to 1) assess the association between erosive tooth wear (ETW) according to the BEWE (Basic Erosive Wear Examination) scoring system and salivary parameters and 2) compare salivary parameters according to ETW severity in the subgroup of children with ETW. This cross-sectional study included 52 preschool children aged 5 years paired by sex. A calibrated examiner assessed ETW using BEWE criteria, and stimulated saliva was collected to determine salivary flow, osmolality, pH, and buffering capacity. The children were divided into two groups: without ETW (n=26; BEWE score 0) and with ETW (n=26; BEWE scores 1 and 2). Logistic regression analysis was used to determine the magnitude of the association between ETW and salivary parameters and estimates of odds ratios (OR). In the unadjusted analysis, the ETW group was more likely to have lower salivary flow (OR = 0.079; 95%CI = 0.013-0.469; p = 0.005) and lower osmolality (OR = 0.993; 95%CI = 0.985-1.000; p = 0.049). In the adjusted analysis, salivary flow remained significantly associated with ETW (OR = 0.087; 95%CI = 0.014-0.533; p = 0.008). Lower salivary osmolality values were observed in ETW, especially in preschool children with more severe ETW (BEWE score 2). Receiver operating characteristic (ROC) determined a salivary osmolality cutoff point of < 201 for the presence of ETW. In conclusion, salivary flow rate was significantly associated with ETW prevalence. Lower values of salivary osmolality were observed in preschool children with distinct erosive lesions with significant loss of tooth structure (BEWE 2).
RESUMEN
Major threats to the human lifespan include cancer, infectious diseases, diabetes, mental degenerative conditions and also reduced agricultural productivity due to climate changes, together with new and more devastating plant diseases. From all of this, the need arises to find new biopesticides and new medicines. Plants and microorganisms are the most important sources for isolating new metabolites. Lampedusa Island host a rich contingent of endemic species and subspecies. Seven plant species spontaneously growing in Lampedusa, i.e., Atriplex halimus L. (Ap), Daucus lopadusanus Tineo (Dl), Echinops spinosus Fiori (Es) Glaucium flavum Crantz (Gf) Hypericum aegypticum L: (Ha), Periploca angustifolia Labill (Pa), and Prasium majus L. (Pm) were collected, assessed for their metabolite content, and evaluated for potential applications in agriculture and medicine. The HPLC-MS analysis of n-hexane (HE) and CH2Cl2 (MC) extracts and the residual aqueous phases (WR) showed the presence of several metabolites in both organic extracts. Crude HE and MC extracts from Dl and He significantly inhibited butyrylcholinesterase, as did WR from the extraction of Dl and Pa. HE and MC extracts showed a significant toxicity towards hepatocarcinoma Huh7, while Dl, Ha and Er HE extracts were the most potently cytotoxic to ileocecal colorectal adenocarcinoma HCT-8 cell lines. Most extracts showed antiviral activity. At the lowest concentration tested (1.56 µg/mL), Dl, Gf and Ap MC extracts inhibited betacoronavirus HCoV-OC43 infection by> 2 fold, while the n-hexane extract of Pm was the most potent. In addition, at 1.56 µg/mL, potent inhibition (>10 fold) of dengue virus was detected for Dl, Er, and Pm HE extracts, while Pa and Ap MC extracts dampened infections to undetectable levels. Regarding to phytotoxicity, MC extracts from Er, Ap and Pm were more effective in inhibiting tomato rootlet elongation; the same first two extracts also inhibited seed cress germination while its radicle elongation, due to high sensitivity, was affected by all the extracts. Es and Gf MC extracts also inhibited seed germination of Phelipanche ramosa. Thus, we have uncovered that many of these Lampedusa plants displayed promising biopesticide, antiviral, and biological properties.
RESUMEN
Phenolic plant constituents are well known for their health-promoting and cancer chemopreventive properties, and products containing such constituents are therefore readily consumed. In the present work, we isolated 13 phenolic constituents of four different compound classes from the aerial parts of the Moldavian dragonhead, an aromatic and medicinal plant with a high diversity on secondary metabolites. All compounds were tested for their apoptotic effect on myeloma (KMS-12-PE) and AML (Molm-13) cells, with the highest activity observed for the flavone and flavonol derivatives. While diosmetin (6) exhibited the most pronounced effects on the myeloma cell line, two polymethylated flavones, namely cirsimaritin (1) and xanthomicrol (3), were particularly active against AML cells and therefore subsequently investigated for their antiproliferative effects at lower concentrations. At a concentration of 2.5 µM, cirsimaritin (1) reduced proliferation of Molm-13 cells by 72% while xanthomicrol (3) even inhibited proliferation to the extent of 84% of control. In addition, both compounds were identified as potent FLT3 inhibitors and thus display promising lead structures for further drug development. Moreover, our results confirmed the chemopreventive properties of flavonoids in general, and in particular of polymethylated flavones, which have been intensively investigated especially over the last decade.
Asunto(s)
Flavonas , Lamiaceae , Leucemia Mieloide Aguda , Lignanos , Mieloma Múltiple , Flavonoles/farmacología , Flavonoles/química , Mieloma Múltiple/tratamiento farmacológico , Línea Celular Tumoral , Flavonas/farmacología , Flavonas/química , Lamiaceae/química , Leucemia Mieloide Aguda/tratamiento farmacológico , FenolesRESUMEN
Background: Gender disparities are well documented in the academic medicine literature and have been shown to impact representation, rank, and leadership opportunities for women. Social media platforms, including electronic mailing lists (listservs), may contribute to disparities by differentially highlighting or promoting individuals' work in academic and public health settings. Because of this, they provide a record by which to assess the presence of gender disparities; therefore, they become tools to identify gender differences in the frequency or pattern of representation. This study examines the representation of women in academic medicine electronic communications by analyzing weekly email listserv announcements of the American Association of Medical Colleges (AAMC). Materials and Methods: A mixed methods approach was used to analyze listserv communications during two time periods, 2012-2014 and 2018-2019. Each email contained multiple announcements. Individual achievement messages were selected, categorized by gender, and coded with one of three action categories: departures, appointments, and other mentions. Additionally, each notice was coded by professional setting (media, professional organizations, medical school/research, health care systems, public health, and government). Results: We analyzed a total of 5701 announcements in the AAMC communication listserv. Men represented 73.2% (N = 4171) and women 26.8% (N = 1530) of the total announcements. During 2012-2014, 24.0% of announcements were about women, while in the 2018-2019 sample, 35.7% of announcements were about women (p < 0.001). Overall, women were underrepresented in departure-focused messages compared to messages with an appointment or other focus in the sample. The prevalence of women in announcements from the 2012-2014 and 2018-2019 samples also varied based on setting. Conclusions: Findings support the presence of gender disparities in these sets of listserv communications. While social media overall is not considered to be a source of complete information, this study analyzed the same listserv communication by the same organization over the entire period, thereby providing a window into the frequency and type of representation of women's professional activity in academic medicine.
Asunto(s)
Medicina , Medios de Comunicación Sociales , Masculino , Femenino , Humanos , Estados Unidos , Correo Electrónico , Facultades de Medicina , Liderazgo , Docentes MédicosRESUMEN
INTRODUCTION AND OBJECTIVES: Metabolic-associated fatty liver disease (MAFLD) is defined by steatosis in more than 5% of hepatocytes without other liver diseases. Patients with this disease can progress to multiple stages like liver fibrosis, cirrhosis, and hepatocellular carcinoma. miRNAs are single-stranded molecules that regulate metabolic homeostasis; their differential expression postulates them as potential circulating biomarkers for MAFLD. Previous research reported that hsa-miR-140-5p, hsa-miR-148-5p, and hsa-miR-122-3p have a differential expression in patients with MAFLD. This study aimed to investigate the correlation between liver hsa-miR-140-5p, hsa-miR-148-5p, and hsa-miR-122-3p and serum biomarkers CK-18, APOB, IL-6, IL-32, and TNF-α in patients with MAFLD compared with control patients. MATERIALS AND METHODS: A cross-sectional study was carried out with 16 patients of both sexes, aged between 18-60 years, to determine the association between the levels of hsa-miR-140-5p, hsa-miR-148-5p, and hsa-miR-122-3p with MAFLD in liver biopsies of patients who underwent laparoscopic cholecystectomy. RESULTS: Twelve patients presented MAFLD, four without hepatic steatosis. Circulating levels of CK-18 showed a significant difference in patients with MAFLD, and a strong correlation was found between hsa-miR-122-3p, hsa-miR-140-5p, and hsa-miR-148b-5p versus the CAP value. CONCLUSION: There is a correlation between elevated tissue expression of hsa-miR-122-3p, hsa-miR-140-5p, and hsa-miR-148b-3p with plasma levels of CK-18 in patients with simple steatosis compared with patients without the disease.
Asunto(s)
Queratina-18 , MicroARNs , Enfermedad del Hígado Graso no Alcohólico , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Biomarcadores , Estudios Transversales , Queratina-18/genética , Hígado/metabolismo , MicroARNs/genética , MicroARNs/metabolismo , Enfermedad del Hígado Graso no Alcohólico/genéticaRESUMEN
RESUMEN: Se realizó un estudio descriptivo observacional, de corte transversal, con el objetivo de identificar la asociación del consumo de psicofármacos y el aumento del riesgo de padecer apnea obstructiva del sueño (A.O.S.), en pacientes internados y bajo tratamiento con psicofármacos en Hospital General (Hospital Pasteur, Montevideo, Uruguay) durante julio-septiembre de 2019. Se aplicó el cuestionario STOP BANG, hallándose riesgo elevado de A.O.S en el 59,4% de la muestra, del cual 75,6% corresponde al sexo masculino y el 24,4% corresponde al sexo femenino. El riesgo elevado para A.O.S fue: 54,3% para pacientes en tratamiento con un solo psicofármaco y 71,4% con dos. El grupo de antipsicóticos fue el que se asoció con mayor frecuencia al riesgo elevado de A.O.S.
SUMMARY A cross-sectional study was conducted with the objective of identifying the link between psychotropic medications and an increased risk of suffering from obstructive sleep apnea (OSA) in patients under treatment with psychotropic medication who were hospitalized in General Hospital (Hospital Pasteur, Montevideo, Uruguay) during the July-September 2019 period. The STOP BANG questionnaire was applied, elevated risk of OSA was found in 59.4% of the sample, of which 75.6% were male, while 24.4% were female. The elevated risk of OSA was: 54.4% for patients under treatment with a single psychotropic medication and 71.4% for patients under treatment with two psychotropic medications. Antipsychotics were the most frequently group of psychotropic drugs linked to an elevated OSA risk.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Adulto Joven , Psicotrópicos/efectos adversos , Síndromes de la Apnea del Sueño/epidemiología , Síndromes de la Apnea del Sueño/inducido químicamente , Estudios Transversales , Encuestas y Cuestionarios , Medición de Riesgo , Hospitalización , Hospitales Generales , Pacientes InternosRESUMEN
ABSTRACT Background: The inflammatory response in gout disease is induced by the activation of NLR family pyrin domain-containing 3 (NLPR3) signaling pathway mediated by IL-1β release. Objective: The objective of the study was to determine the association between single nucleotide polymorphisms (SNPs) within NLRP3 inflammasome genes and gout susceptibility. Methods: Mexican patients with gout from the National Rehabilitation Institute and General Hospital of Mexico were enrolled. A healthy control group was also included. We analyzed the frequency and allelic distribution of eight SNPs from seven different genes within the NLRP3 inflammasome signaling pathway: TLR4 rs2149356, CD14 rs2569190, NLRP3 rs3806268, NLRP3 rs10754558, CARD8 rs2043211, IL-1β rs1143623, P2RX7 rs3751142, and PPARGC1B rs45520937 SNPs. Results: We found that the SNP rs45520937 of PPARGC1B was associated with the risk of developing gout when it was analyzed using the dominant model (Odds ratio [OR] = 2.30; 95% confidence interval [CI]: 1.09-4.86; p = 0.030), and it is proposed that the adaptor molecule CD14 rs2569190 polymorphism could be associated with a lower risk of gout under an additive model (OR= 0.41;95% CI: 0.16-1.05; p = 0.064). No significant associations were identified for the remaining SNPs. Conclusion: Our findings suggest that the PPARGC1B rs45520937 SNP is associated with gout susceptibility.
RESUMEN
An infectious process into the uterine cavity represents a major endangered condition that compromises the immune privilege of the maternal-fetal unit and increases the risk for preterm birth (PTB) and premature rupture of membranes (PROM). Fetal membranes are active secretors of antimicrobial peptides (AMP), which limit bacterial growth, such as Escherichia coli. Nevertheless, the antibacterial responses displayed by chorioamniotic membranes against a choriodecidual E. coli infection have been briefly studied. The objective of this research was to characterize the profile of synthesis, activity, and spatial distribution of a broad panel of AMPs produced by fetal membranes in response to E. coli choriodecidual infection. Term human chorioamniotic membranes were mounted in a two independent compartment model in which the choriodecidual region was infected with live E. coli (1 × 105 CFU/mL). Amnion and choriodecidual AMP tissue levels and TNF-α and IL-1ß secretion were measured by the enzyme-linked immunosorbent assay. The passage of bacterium through fetal membranes and their effect on structural continuity was followed for 24 h. Our results showed that E. coli infection caused a progressive mechanical disruption of the chorioamniotic membranes and an activated inflammatory environment. After the challenge, the amnion quickly (2-4 h) induced production of human beta defensins (HBD)-1, HBD-2, and LL-37. Afterwards (8-24 h), the amnion significantly produced HBD-1, HBD-2, HNP-1-3, S100A7, sPLA2, and elafin, whereas the choriodecidua induced LL-37 synthesis. Therefore, we noticed a temporal- and tissue-specific pattern regulation of the synthesis of AMPs by infected fetal membranes. However, fetal membranes were not able to contain the collagen degradation or the bacterial growth and migration despite the battery of produced AMPs, which deeply increases the risk for PTB and PROM. The mixture of recombinant HBDs at low concentrations resulted in increased bactericidal activity compared to each HBD alone in vitro, encouraging further research to study AMP combinations that may offer synergy to control drug-resistant infections in the perinatal period.
Asunto(s)
Infecciones por Escherichia coli , Nacimiento Prematuro , beta-Defensinas , Femenino , Humanos , Recién Nacido , Embarazo , beta-Defensinas/metabolismo , Escherichia coli/metabolismo , Infecciones por Escherichia coli/metabolismo , Membranas Extraembrionarias/metabolismo , Inmunidad Innata , Nacimiento Prematuro/metabolismoRESUMEN
Background: The inflammatory response in gout disease is induced by the activation of NLR family pyrin domain-containing 3 (NLPR3) signaling pathway mediated by IL-1ß release. Objective: The objective of the study was to determine the association between single nucleotide polymorphisms (SNPs) within NLRP3 inflammasome genes and gout susceptibility. Methods: Mexican patients with gout from the National Rehabilitation Institute and General Hospital of Mexico were enrolled. A healthy control group was also included. We analyzed the frequency and allelic distribution of eight SNPs from seven different genes within the NLRP3 inflammasome signaling pathway: TLR4 rs2149356, CD14 rs2569190, NLRP3 rs3806268, NLRP3 rs10754558, CARD8 rs2043211, IL-1ß rs1143623, P2RX7 rs3751142, and PPARGC1B rs45520937 SNPs. Results: We found that the SNP rs45520937 of PPARGC1B was associated with the risk of developing gout when it was analyzed using the dominant model (Odds ratio [OR] = 2.30; 95% confidence interval [CI]: 1.09-4.86; p = 0.030), and it is proposed that the adaptor molecule CD14 rs2569190 polymorphism could be associated with a lower risk of gout under an additive model (OR= 0.41;95% CI: 0.16-1.05; p = 0.064). No significant associations were identified for the remaining SNPs. Conclusion: Our findings suggest that the PPARGC1B rs45520937 SNP is associated with gout susceptibility.
Asunto(s)
Gota , Inflamasomas , Proteínas Adaptadoras de Señalización CARD/genética , Proteínas Adaptadoras de Señalización CARD/metabolismo , Predisposición Genética a la Enfermedad , Genotipo , Gota/genética , Humanos , Inflamasomas/genética , Inflamasomas/metabolismo , Interleucina-1beta/genética , Interleucina-1beta/metabolismo , Proteína con Dominio Pirina 3 de la Familia NLR/genética , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , Proteínas de Neoplasias/genética , Proteínas de Neoplasias/metabolismo , Polimorfismo de Nucleótido Simple , Proteínas de Unión al ARN/genéticaRESUMEN
Vatairea guianenis Aubl. (Fabaceae) is an Amazonian medicinal plant species traditionally used for treating skin diseases. In an initial screening, a V. guianensis leaf extract and its subextracts showed antibacterial and antifungal activities. The EtOAc subextract was selected for chemical workup and afforded five known (1-4 and 8) and six undescribed isoflavones, vatairenones C-H (5-7 and 9-11). All isoflavones are prenylated in position C-8, displaying either chain-prenylated (1-7) or ring-closed forms (8-11). The most bioactive compound (3) exhibited in vitro activity against clinically relevant bacteria and fungi with IC50 values ranging from 6.8 to 26.9 µM. Due to its broad antimicrobial activity and low general toxicity, compound 3 is a potential lead compound for structural modifications. The results of the present study support the ethnomedicinal use of V. guianensis in the treatment of dermatological disorders. 1H NMR spectra of some of the isolated compounds showed intricate signal patterns, which might explain repeated errors in assigning the correct structure of the isoflavonoid B-ring in the literature and which we resolved by higher order spectra simulations.
Asunto(s)
Antiinfecciosos , Fabaceae , Isoflavonas , Plantas Medicinales , Antibacterianos/farmacología , Fabaceae/química , Isoflavonas/química , Isoflavonas/farmacología , Extractos Vegetales , Hojas de la PlantaRESUMEN
BACKGROUND: The COVID-19 pandemic has led to increased stress, anxiety, and depression in children. A six-session, parent-led, transdiagnostic, cognitive-behavioral teletherapy program was adapted from an established protocol to help youth aged between 5 and 13 years manage emotional problems during the pandemic. METHODS: One-hundred twenty-nine parents of youth struggling with emotional problems during the COVID-19 pandemic participated in the program. Parents reported on their children's psychosocial functioning before and after treatment using validated assessments. They also reported on treatment satisfaction. Clinician-rated global improvement was assessed at each session to determine clinically significant treatment response. RESULTS: Significant improvements in parent proxy-reported anxiety (d = 0.56), depression (d = 0.69), stress (d = 0.61), anger (d = 0.69), family relationships (d = 0.32), and COVID-19-related distress (d = 1.08) were found, with 62% of participants who completed the program being classified as treatment responders. Parents reported high levels of satisfaction with the program. LIMITATIONS: This study was limited by use of primarily parent-report assessments and a lack of a control group. CONCLUSIONS: Brief, parent-led, transdiagnostic cognitive-behavioral teletherapy appeared to be an effective way to help youth cope with the pandemic and may be a scalable framework in response to large-scale mental health crises.
Asunto(s)
COVID-19 , Pandemias , Adolescente , Niño , Preescolar , Cognición , Depresión , Humanos , Padres , SARS-CoV-2RESUMEN
Objectives: U.S. Hispanic teens experience higher rates of unintended pregnancy than white teens. Limited research has been done to explore the sociocultural factors that impact Hispanic teens and their decisions about birth control and long-acting reversible contraception (LARC). The theory of planned behavior served as a framework for this study and teen perspectives about contraceptive decision making. This study aimed to identify the sociocultural factors that impact Hispanic teens when they make decisions about birth control and LARC. Study Design and Methods: We interviewed Hispanic teens from school-based health centers in New Mexico during their schedule medical appointments. Interviews were audio recorded, transcribed, and coded using content analysis coding methods and a descriptive qualitative design. Results: A total of 20 Hispanic teens participated in this study, all were female and between the ages of 14 and 19 years. Themes: Five themes emerged from the analysis process that impact Hispanic teen contraceptive choice, these are family, religion, culture, peer influence, and other factors. Conclusions and Implications: Among both LARC and non-LARC groups, peer influence was the most frequently cited reason for contraceptive decision making. Relationships with family were cited as barriers for Hispanic teens, where lack of communication and abstinence-only beliefs made it difficult to seek contraception. Findings demonstrate that teens selected LARCs because of the impacts on menstrual cycles and clinician influence. Teens who did not self-select LARC discussed ease of protection and the utilization of birth control as a transition to LARC.
RESUMEN
Mental healthcare professionals often have limited awareness of different obsessive-compulsive disorder (OCD) symptom presentations, which may contribute to years between OCD symptom onset and treatment initiation. While research has identified high rates of OCD misdiagnosis among clinicians from the United States and Canada, research on OCD symptom awareness among healthcare providers in Latin American (LATAM) regions is limited. In this study, LATAM mental healthcare providers (N = 83) provided diagnostic impressions based on five OCD vignettes: three with symptoms centered on taboo thoughts (sexual, harming others, and religion/scrupulosity) and two about contamination or symmetry obsessions. Rates of incorrect (non-OCD) diagnoses were significantly higher for the taboo thoughts vignettes (sexual, 52.7%; harm/aggression, 42.0%; and religious, 34.7%) vs. contamination obsessions (11.0%) and symmetry obsessions (6.9%). The OCD vignette depicting sexual obsessions was often attributed to a paraphilic disorder (36.5%). Bachelor's level clinicians had significantly lower odds of accurately identifying all three vignettes related to taboo thoughts compared to respondents with a graduate degree. Accurate identification of the three taboo vignettes was also associated with first-line psychological treatment recommendations (i.e., cognitive-behavioral therapy) even when controlling for respondents' theoretical orientation. Exposure was rarely mentioned when clinicians were prompted to provide treatment recommendations for each vignette (8-9% of the time for symmetry and contamination vignettes, 5-7% for taboo though vignettes). Like clinicians in the United States and Canada, mental health professionals in LATAM may misidentify OCD symptom presentations, particularly sexual obsessions, highlighting a need for education and training.
RESUMEN
Objective: Low HDL-C (high-density lipoprotein cholesterol) is the most frequent dyslipidemia in Mexicans, but few studies have examined the underlying genetic basis. Our purpose was to identify genetic variants associated with HDL-C levels and cardiovascular risk in the Mexican population. Approach and Results: A genome-wide association studies for HDL-C levels in 2335 Mexicans, identified four loci associated with genome-wide significance: CETP, ABCA1, LIPC, and SIDT2. The SIDT2 missense Val636Ile variant was associated with HDL-C levels and was replicated in 3 independent cohorts (P=5.9×10−18 in the conjoint analysis). The SIDT2/Val636Ile variant is more frequent in Native American and derived populations than in other ethnic groups. This variant was also associated with increased ApoA1 and glycerophospholipid serum levels, decreased LDL-C (low-density lipoprotein cholesterol) and ApoB levels, and a lower risk of premature CAD. Because SIDT2 was previously identified as a protein involved in sterol transport, we tested whether the SIDT2/Ile636 protein affected this function using an in vitro site-directed mutagenesis approach. The SIDT2/Ile636 protein showed increased uptake of the cholesterol analog dehydroergosterol, suggesting this variant affects function. Finally, liver transcriptome data from humans and the Hybrid Mouse Diversity Panel are consistent with the involvement of SIDT2 in lipid and lipoprotein metabolism. Conclusions: This is the first genome-wide association study for HDL-C levels seeking associations with coronary artery disease in the Mexican population. Our findings provide new insight into the genetic architecture of HDL-C and highlight SIDT2 as a new player in cholesterol and lipoprotein metabolism in humans.