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2.
Nat Commun ; 15(1): 4000, 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38734667

RESUMO

Magnetic order typically emerges due to the short-range exchange interaction between the constituent electronic spins. Recent discoveries have found a crucial role for spin-phonon coupling in various phenomena from optical ultrafast magnetization switching to dynamical control of the magnetic state. Here, we demonstrate theoretically the emergence of a biquadratic long-range interaction between spins mediated by their coupling to phonons hybridized with vacuum photons into polaritons. The resulting ordered state enabled by the exchange of virtual polaritons between spins is reminiscent of superconductivity mediated by the exchange of virtual phonons. The biquadratic nature of the spin-spin interaction promotes ordering without favoring ferro- or antiferromagnetism. It further makes the phase transition to magnetic order a first-order transition, unlike in conventional magnets. Consequently, a large magnetization develops abruptly on lowering the temperature which could enable magnetic memories admitting ultralow-power thermally-assisted writing while maintaining a high data stability. The role of photons in the phenomenon further enables an in-situ static control over the magnetism. These unique features make our predicted spin-spin interaction and magnetism highly unconventional paving the way for novel scientific and technological opportunities.

3.
Nat Commun ; 15(1): 3295, 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38632230

RESUMO

Van der Waals semiconductors exemplified by two-dimensional transition-metal dichalcogenides have promised next-generation atomically thin optoelectronics. Boosting their interaction with light is vital for practical applications, especially in the quantum regime where ultrastrong coupling is highly demanded but not yet realized. Here we report ultrastrong exciton-plasmon coupling at room temperature in tungsten disulfide (WS2) layers loaded with a random multi-singular plasmonic metasurface deposited on a flexible polymer substrate. Different from seeking perfect metals or high-quality resonators, we create a unique type of metasurface with a dense array of singularities that can support nanometre-sized plasmonic hotspots to which several WS2 excitons coherently interact. The associated normalized coupling strength is 0.12 for monolayer WS2 and can be up to 0.164 for quadrilayers, showcasing the ultrastrong exciton-plasmon coupling that is important for practical optoelectronic devices based on low-dimensional semiconductors.

4.
Phys Rev Lett ; 132(10): 106902, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38518335

RESUMO

Despite significant theoretical efforts devoted to studying the interaction between quantized light modes and matter, the so-called ultrastrong coupling regime still presents significant challenges for theoretical treatments and prevents the use of many common approximations. Here we demonstrate an approach that can describe the dynamics of hybrid quantum systems in any regime of interaction for an arbitrary electromagnetic (EM) environment. We extend a previous method developed for few-mode quantization of arbitrary systems to the case of ultrastrong light-matter coupling, and show that even such systems can be treated using a Lindblad master equation where decay operators act only on the photonic modes by ensuring that the effective spectral density of the EM environment is sufficiently suppressed at negative frequencies. We demonstrate the validity of our framework and show that it outperforms current state-of-the-art master equations for a simple model system, and then study a realistic nanoplasmonic setup where existing approaches cannot be applied.

5.
Nutrients ; 16(5)2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38474818

RESUMO

Numerous factors concerning early breastfeeding abandonment have been described, including health literacy (HL). This study's objective was to analyze factors related to early breastfeeding abandonment (<6 months). This prospective multicentric study examined the duration of breastfeeding at 6 months postpartum and was conducted in four different regions of Spain from January 2021 to January 2023. A total of 275 women participated in this study, which focused on maternal HL and obstetric practices. A decrease in the breastfeeding rate was observed from hospital discharge (n = 224, 81.5%) to the sixth month postpartum (n = 117, 42.5%). A Cox regression analysis revealed that inadequate HL levels, lack of mobilization during labour, and induced labour were significantly associated with early breastfeeding cessation (p = 0.022, p = 0.019, and p = 0.010, respectively). The results highlight that women with adequate HL had a 32% lower risk of early breastfeeding abandonment. In comparison, mobilization during labour and induction of labour were linked to a 32.4% reduction and a 53.8% increase in this risk, respectively. These findings emphasize the importance of considering obstetric and HL factors when addressing the breastfeeding duration, indicating opportunities for educational and perinatal care interventions.


Assuntos
Letramento em Saúde , Trabalho de Parto , Gravidez , Feminino , Humanos , Aleitamento Materno , Estudos Prospectivos , Período Pós-Parto , Mães
6.
ACS Nano ; 18(6): 4922-4931, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38301147

RESUMO

Strong coupling between lead halide perovskite materials and optical resonators enables both polaritonic control of the photophysical properties of these emerging semiconductors and the observation of fundamental physical phenomena. However, the difficulty in achieving optical-quality perovskite quantum dot (PQD) films showing well-defined excitonic transitions has prevented the study of strong light-matter coupling in these materials, central to the field of optoelectronics. Herein we demonstrate the formation at room temperature of multiple cavity exciton-polaritons in metallic resonators embedding highly transparent Cesium Lead Bromide quantum dot (CsPbBr3-QD) solids, revealed by a significant reconfiguration of the absorption and emission properties of the system. Our results indicate that the effects of biexciton interaction or large polaron formation, frequently invoked to explain the properties of PQDs, are seemingly absent or compensated by other more conspicuous effects in the CsPbBr3-QD optical cavity. We observe that strong coupling enables a significant reduction of the photoemission line width, as well as the ultrafast modulation of the optical absorption, controllable by means of the excitation fluence. We find that the interplay of the polariton states with the large dark state reservoir plays a decisive role in determining the dynamics of the emission and transient absorption properties of the hybridized light-quantum dot solid system. Our results should serve as the basis for future investigations of PQD solids as polaritonic materials.

7.
Midwifery ; 128: 103874, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37979550

RESUMO

PROBLEM: It is necessary to continue promoting breastfeeding rates. BACKGROUND: Information and communication technologies have significantly impacted healthcare services and are transforming the sector. There is little evidence of the usefulness of mobile applications to support breastfeeding and increase its duration. AIM: To assess whether mobile application-LactApp® (Barcelona, Spain)-usage compared with standard care increases the 6-month postpartum breastfeeding rate. METHODS: A multicentre, randomised, controlled clinical trial of parallel groups was conducted. The study was conducted in four public hospitals in Spain from January 2022 to January 2023. 270 Women were randomly assigned to each parallel group. The women in the intervention group received free access to the mobile application LactApp®, which provides personalised and convenient support to women about BF. Women in the control group received standard care, which included individual counselling about the benefits of maintaining BF for the first 6 months of the baby's life. FINDINGS: The rate of breastfeeding abandonment at 15 days was 6.4 % in the control group vs 0.0 % in the intervention group (p = 0.105). LactApp® usage did not increase the 6-month postpartum breastfeeding rate compared with standard care (CG = 41.6% vs. IG = 43.6 %; p = 0.826). DISCUSSION: Further studies must explore how technologies can help improve long-term breastfeeding maintenance. The mobile app seems to reduce early weaning in the first 15 days slightly. CONCLUSION: Mobile application usage did not increase the breastfeeding rate compared with standard practice but may reduce breastfeeding abandonment in the first 2 weeks postpartum.


Assuntos
Aleitamento Materno , Aplicativos Móveis , Lactente , Feminino , Humanos , Período Pós-Parto , Aconselhamento , Comunicação
8.
Nano Lett ; 24(1): 525-532, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38109687

RESUMO

The manipulation of coupled quantum excitations is of fundamental importance in realizing novel photonic and optoelectronic devices. We use electroluminescence to probe plasmon-exciton coupling in hybrid structures consisting of a nanoscale plasmonic tunnel junction and few-layer two-dimensional transition-metal dichalcogenide transferred onto the junction. The resulting hybrid states act as a novel dielectric environment that affects the radiative recombination of hot carriers in the plasmonic nanostructure. We determine the plexcitonic spectrum from the electroluminescence and find Rabi splittings exceeding 50 meV in the strong coupling regime. Our experimental findings are supported by electromagnetic simulations that enable us to explore systematically and in detail the emergence of plexciton polaritons as well as the polarization characteristics of their far-field emission. Electroluminescence modulated by plexciton coupling provides potential applications for engineering compact photonic devices with tunable optical and electrical properties.

9.
Thromb Haemost ; 2023 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-38158197

RESUMO

INTRODUCTION: Investigation of the molecular basis of inherited bleeding disorders (IBD) is mostly performed with gene panel sequencing. However, the continuous discovery of new related genes underlies the limitation of this approach. This study aimed to identify genetic variants responsible for IBD in pediatric patients using whole-exome sequencing (WES), and to provide a detailed description and reclassification of candidate variants. MATERIAL AND METHODS: WES was performed for 18 pediatric patients, and variants were filtered using a first-line list of 290 genes. Variant prioritization was discussed in a multidisciplinary team based on genotype-phenotype correlation, and segregation studies were performed with available family members. RESULTS: The study identified 22 candidate variants in 17 out of 18 patients (94%). Eleven patients had complete genotype-phenotype correlation, resulting in a diagnostic yield of 61%, 5 (28%) were classified as partially solved, and 2 (11%) remained unsolved. Variants were identified in platelet (ACTN1, ANKRD26, CYCS, GATA1, GFI1B, ITGA2, NBEAL2, RUNX1, SRC, TUBB1), bleeding (APOLD1), and coagulation (F7, F8, F11, VWF) genes. Notably, 9 out of 22 (41%) variants were previously unreported. Variant pathogenicity was assessed according to the American College of Medical Genetics and Genomics guidelines and reclassification of three variants based on family segregation evidence, resulting in the identification of 10 pathogenic or likely pathogenic variants, 6 variants of uncertain significance, and 6 benign or likely benign variants. CONCLUSION: This study demonstrated the high potential of WES in identifying rare molecular defects causing IBD in pediatric patients, improving their management, prognosis, and treatment, particularly for patients at risk of malignancy and/or bleeding due to invasive procedures.

10.
Int J Mol Sci ; 24(22)2023 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-38003562

RESUMO

Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the presence of autoantibodies against factor VIII (FVIII). As with other autoimmune diseases, its etiology is complex and its genetic basis is unknown. The aim of this study was to identify the immunogenetic background that predisposes individuals to AHA. HLA and KIR gene clusters, as well as KLRK1, were sequenced using next-generation sequencing in 49 AHA patients. Associations between candidate genes involved in innate and adaptive immune responses and AHA were addressed by comparing the alleles, genotypes, haplotypes, and gene frequencies in the AHA cohort with those in the donors' samples or Spanish population cohort. Two genes of the HLA cluster, as well as rs1049174 in KLRK1, which tags the natural killer (NK) cytotoxic activity haplotype, were found to be linked to AHA. Specifically, A*03:01 (p = 0.024; odds ratio (OR) = 0.26[0.06-0.85]) and DRB1*13:03 (p = 6.8 × 103, OR = 7.56[1.64-51.40]), as well as rs1049174 (p = 0.012), were significantly associated with AHA. In addition, two AHA patients were found to carry one copy each of the low-frequency allele DQB1*03:09 (nallele = 2, 2.04%), which was completely absent in the donors. To the best of our knowledge, this is the first time that the involvement of these specific alleles in the predisposition to AHA has been proposed. Further molecular and functional studies will be needed to unravel their specific contributions. We believe our findings expand the current knowledge on the genetic factors involved in susceptibility to AHA, which will contribute to improving the diagnosis and prognosis of AHA patients.


Assuntos
Hemofilia A , Humanos , Hemofilia A/genética , Genótipo , Haplótipos/genética , Alelos , Frequência do Gene , Sequenciamento de Nucleotídeos em Larga Escala , Sistema Imunitário , Predisposição Genética para Doença
12.
Nature ; 620(7974): 533-537, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37587298

RESUMO

Controlling quantum materials with light is of fundamental and technological importance. By utilizing the strong coupling of light and matter in optical cavities1-3, recent studies were able to modify some of their most defining features4-6. Here we study the magneto-optical properties of a van der Waals magnet that supports strong coupling of photons and excitons even in the absence of external cavity mirrors. In this material-the layered magnetic semiconductor CrSBr-emergent light-matter hybrids called polaritons are shown to substantially increase the spectral bandwidth of correlations between the magnetic, electronic and optical properties, enabling largely tunable optical responses to applied magnetic fields and magnons. Our results highlight the importance of exciton-photon self-hybridization in van der Waals magnets and motivate novel directions for the manipulation of quantum material properties by strong light-matter coupling.

13.
iScience ; 26(7): 107214, 2023 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-37456859

RESUMO

Some HIV controllers experience immunologic progression with CD4+ T cell decline. We aimed to identify genetic factors associated with CD4+ T cell lost in HIV controllers. A total of 561 HIV controllers were included, 442 and 119 from the International HIV controllers Study Cohort and the Swiss HIV Cohort Study, respectively. No SNP or gene was associated with the long-term non-progressor HIV spontaneous control phenotype in the individual GWAS or in the meta-analysis. However, SNPs previously associated with natural HIV control linked to HLA-B (rs2395029 [p = 0.005; OR = 1.70], rs59440261 [p = 0.003; OR = 1.78]), MICA (rs112243036 [p = 0.011; OR = 1.45]), and PSORS1C1 loci (rs3815087 [p = 0.017; OR = 1.39]) showed nominal association with this phenotype. Genetic factors associated with the long-term HIV controllers without risk of immunologic progression are those previously related to the overall HIV controller phenotype.

14.
Healthcare (Basel) ; 11(10)2023 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-37239720

RESUMO

PURPOSE: The primary aim of this study is to determine the influence of an intervention in women based on a free mobile application (LactApp®, Barcelona, Spain) in maintaining breastfeeding (BF) up to 6 months postpartum. The secondary aim is to assess the effect of health literacy (HL) on breastfeeding duration. METHODS: A multicenter, randomized controlled clinical trial of parallel groups will be carried out. Women will be randomly assigned to each of the parallel groups. In the control group, usual clinical practice will be followed from the third trimester of pregnancy to promote BF. In the intervention group, and in addition to usual clinical practice, the women will use a free mobile application (LactApp®) from the third trimester to 6 months postpartum. The type of BF at birth, at 15 days and at 3 and 6 months postpartum and the causes of cessation of BF in both groups will be monitored. The hypothesis will be tested using inferential analysis, considering an alpha of 5%. The study protocol was approved by the Clinical Research Ethics Committee of Hospital de la Ribera (Alzira, Valencia, Spain) in February 2021. A per protocol analysis and an intention-to-treat analysis will be performed. DISCUSSION: This study will identify the influence of a mobile application on improving BF rates. If the application proves effective, we will have a tool with free information available to any user at any time of day, which may be complemented by normal clinical practice and be integrated into our health care system. TRIAL REGISTRATION: ClinicalTrials.gov ID: NCT05432700.

15.
Int J Mol Sci ; 24(9)2023 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-37175573

RESUMO

Since the first description of a commensal seminal microbiome using sequencing, less than a decade ago, interest in the composition of this microbiome and its relationship with fertility has been growing. Articles using next-generation sequencing techniques agree on the identification of the most abundant bacterial phyla. However, at the genus level, there is still no consensus on which bacteria are most abundant in human seminal plasma. This discrepancy may be due to methodological variability such as sample collection, bacterial DNA extraction methodology, which hypervariable regions of 16S rRNA gene have been amplified, or bioinformatic analysis. In the present work, seminal microbiota of 14 control samples and 42 samples of idiopathic infertile patients were characterized based on full-length sequencing of the 16S rRNA gene using MinION platform from Oxford Nanopore. These same samples had been analyzed previously using Illumina's MiSeq sequencing platform. Comparison between the results obtained with the two platforms has been used to analyze the impact of sequencing method on the study of the seminal microbiome's composition. Seminal microbiota observed with MinION were mainly composed of the phyla Firmicutes, Proteobacteria, Bacteroidetes and Actinobacteria, with the most abundant genera being Peptoniphilus, Finegoldia, Staphylococcus, Anaerococcus, Campylobacter, Prevotella, Streptococcus, Lactobacillus, Ezakiella and Enterococcus. This composition was similar to that found by the Illumina platform, since these 10 most abundant genera were also among the most abundant genera detected by the Nanopore platform. In both cases, the top 10 genera represented more than 70% of the classified reads. However, relative abundance of each bacterium did not correlate between these two platforms, with intraindividual variations of up to 50 percentage points in some cases. Results suggest that the effect of the sequencing platform on the characterization of seminal microbiota is not very large at the phylum level, with slightly variances in Firmicutes and Actinobacteria, but presents differences at the genus level. These differences could alter the composition and diversity of bacterial profiles or posterior analyses. This indicates the importance of conducting multi-platform studies to better characterize seminal microbioma.


Assuntos
Actinobacteria , Microbiota , Humanos , RNA Ribossômico 16S/genética , Microbiota/genética , Bactérias/genética , Firmicutes/genética , Proteobactérias/genética , Actinobacteria/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Clostridiales/genética
16.
Coimbra; s.n; maio 2023. 72 p. tab..
Tese em Português | BDENF - enfermagem (Brasil) | ID: biblio-1531617

RESUMO

Enquadramento teórico: A lesão vertebro medular causa um grande impacto na vida das pessoas. A sexualidade é uma parte integrante da vida do ser humano. Quando acometido por uma lesão medular, a pessoa sofre sequelas sensório motoras que condicionam a vivência da atividade sexual. Considerando que, após uma lesão vertebro medular, o ser humano não passa a ser assexuado, é necessário estabelecer um plano de intervenção de Enfermagem de Reabilitação para facilitar a adaptação e conduzir à nova realidade. Objetivos: identificar as dificuldades a nível da sexualidade dos indivíduos que sofrem uma Lesão Vertebro Medular (LVM); identificar as intervenções do Enfermeiro Especialista em Enfermagem de Reabilitação (EEER) para potencializar a funcionalidade, relativamente à sexualidade, das pessoas com LVM. Metodologia: estudo de natureza exploratória, descritiva com abordagem qualitativa do tipo fenomenológico. Nele participaram nove pessoas, duas do sexo feminino e sete do sexo masculino, com idades entre os 20 e os 50 anos. Foi solicitado o preenchimento de um questionário, via email, para os participantes que reuniam os critérios de inclusão. Dos inquiridos que aceitaram fazer parte da amostra, foi realizada a análise das suas respostas, que permitiu entender a vivência da sexualidade no regresso a casa e a intervenção do Enfermeiro Especialista em Enfermagem de Reabilitação (EEER). Resultados: do estudo emergiram quatro áreas principais: a adaptação e as novas aprendizagens; a autoestima; a resposta física; e o papel dos EEER. Conclusões: Os/as participantes expõem que a LVM é um acontecimento devastador e que trouxe grandes alterações/dificuldades relativamente à sua sexualidade. Reconhecendo as limitações inerentes à LVM e analisando as dificuldades e sugestões obtidas, é premente mudar paradigmas da Enfermagem de Reabilitação em relação ao papel do EEER no campo da sexualidade. Deste estudo, fica patente a necessidade de implementar medidas baseadas numa abordagem sem tabus em relação ao sexo, com informações precisas, claras e baseadas na evidência científica que permitam à pessoa e à família uma transição eficaz.


Assuntos
Comportamento Sexual , Traumatismos da Coluna Vertebral , Sexualidade , Enfermagem em Reabilitação
17.
Artigo em Inglês | MEDLINE | ID: mdl-36900817

RESUMO

BACKGROUND: Despite international efforts to protect and promote exclusive breastfeeding (EBF) for infants up to six months of age, global rates of EBF continue to fall short of the targets proposed by the WHO for 2025. Previous studies have shown a relationship between the level of health literacy and the duration of EBF, although this relationship was not determinant, probably due to the use of a generic health literacy questionnaire. Therefore, this study aims to design and validate the first specific breastfeeding literacy instrument. METHODS: A Breastfeeding Literacy instrument was developed. Content validation was carried out by a group of 10 experts in health literacy, breastfeeding or instrument validation, obtaining a Content Validity index in Scale (S-CVI/Ave) of 0.912. A multicentre cross-sectional study was carried out in three Spanish hospitals to determine the psychometric properties (construct validity and internal consistency). The questionnaire was administered to 204 women during the clinical puerperium. RESULTS: The Kaiser-Meier-Oklin Test (KMO = 0.924) and Bartlett's Test of Sphericity (X2 = 3119.861; p ≤ 0.001) confirmed the feasibility of the Exploratory Factor Analysis, which explained 60.54% of the variance with four factors. CONCLUSIONS: The Breastfeeding Literacy Assessment Instrument (BLAI) consisting of 26 items was validated.


Assuntos
Aleitamento Materno , Letramento em Saúde , Gravidez , Humanos , Feminino , Estudos Transversais , Reprodutibilidade dos Testes , Período Pós-Parto , Inquéritos e Questionários , Psicometria
18.
J Thromb Haemost ; 21(7): 1779-1788, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36940803

RESUMO

BACKGROUND: Congenital factor XI (FXI) deficiency is a probably underestimated coagulopathy that confers antithrombotic protection. Characterization of genetic defects in F11 is mainly focused on the identification of single-nucleotide variants and small insertion/deletions because they represent up to 99% of the alterations accounting for factor deficiency, with only 3 gross gene defects of structural variants (SVs) having been described. OBJECTIVES: To identify and characterize the SVs affecting F11. METHODS: The study was performed in 93 unrelated subjects with FXI deficiency recruited in Spanish hospitals over a period of 25 years (1997-2022). F11 was analyzed by next-generation sequencing, multiplex ligand probe amplification, and long-read sequencing. RESULTS: Our study identified 30 different genetic variants. Interestingly, we found 3 SVs, all heterozygous: a complex duplication affecting exons 8 and 9, a tandem duplication of exon 14, and a large deletion affecting the whole gene. Nucleotide resolution obtained by long-read sequencing revealed Alu repetitive elements involved in all breakpoints. The large deletion was probably generated de novo in the paternal allele during gametogenesis, and despite affecting 30 additional genes, no syndromic features were described. CONCLUSION: SVs may account for a high proportion of F11 genetic defects implicated in the molecular pathology of congenital FXI deficiency. These SVs, likely caused by a nonallelic homologous recombination involving repetitive elements, are heterogeneous in both type and length and may be de novo. These data support the inclusion of methods to detect SVs in this disorder, with long-read-based methods being the most appropriate because they detect all SVs and achieve adequate nucleotide resolution.


Assuntos
Deficiência do Fator XI , Fator XI , Humanos , Éxons , Fator XI/genética , Deficiência do Fator XI/diagnóstico , Deficiência do Fator XI/genética , Heterozigoto , Nucleotídeos
19.
Artigo em Inglês | MEDLINE | ID: mdl-36833878

RESUMO

BACKGROUND: The World Health Organization (WHO) recommends early initiation of breastfeeding (EIBF) within the first hour after birth. However, certain perinatal factors, namely caesarean section, may prevent this goal from being achieved. The aim of our study was to examine the relationship between EIBF (maternal lactation in the first hours and degree of latching before hospital discharge) and the maintenance of exclusive breastfeeding (MBF) up to the recommended 6 months of age (as advocated by the WHO). METHODS: This observational, retrospective cohort study included a random sample of all births between 2018 and 2019, characterising the moment of breastfeeding initiation after birth and the infant's level of breast latch (measured by LATCH assessment tool) prior to hospital discharge. Data were collected from electronic medical records and from follow-up health checks of infants up to 6 months postpartum. RESULTS: We included 342 women and their newborns. EIBF occurred most often after vaginal (p < 0.001) and spontaneous births with spontaneous amniorrhexis (p = 0.002). LATCH score <9 points was associated with a 1.4-fold relative risk of abandoning MBF (95%CI: 1.2-1.7) compared with a score of 9-10 points. CONCLUSIONS: Although we were unable to find a significant association between EIBF in the first 2 h after birth and MBF at 6 months postpartum, low LATCH scores prior to discharge were associated with low MBF, indicating the importance of reinforcing the education and preparation efforts of mothers in the first days after delivery, prior to the establishment of an infant feeding routine upon returning home.


Assuntos
Aleitamento Materno , Cesárea , Lactente , Gravidez , Feminino , Recém-Nascido , Humanos , Estudos Retrospectivos , Mães , Lactação
20.
Thromb Haemost ; 123(4): 438-452, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36696913

RESUMO

Venous thromboembolism (VTE) is a common disease with high heritability. However, only a small portion of the genetic variance of VTE can be explained by known genetic risk factors. Neutrophil extracellular traps (NETs) have been associated with prothrombotic activity. Therefore, the genetic basis of NETs could reveal novel risk factors for VTE. A recent genome-wide association study of plasma cell-free DNA (cfDNA) levels in the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT-2) Project showed a significant associated locus near ORM1. We aimed to further explore this candidate region by next-generation sequencing, copy number variation (CNV) quantification, and expression analysis using an extreme phenotype sampling design involving 80 individuals from the GAIT-2 Project. The RETROVE study with 400 VTE cases and 400 controls was used to replicate the results. A total of 105 genetic variants and a multiallelic CNV (mCNV) spanning ORM1 were identified in GAIT-2. Of these, 17 independent common variants, a region of 22 rare variants, and the mCNV were significantly associated with cfDNA levels. In addition, eight of these common variants and the mCNV influenced ORM1 expression. The association of the mCNV and cfDNA levels was replicated in RETROVE (p-value = 1.19 × 10-6). Additional associations between the mCNV and thrombin generation parameters were identified. Our results reveal that increased mCNV dosages in ORM1 decreased gene expression and upregulated cfDNA levels. Therefore, the mCNV in ORM1 appears to be a novel marker for cfDNA levels, which could contribute to VTE risk.


Assuntos
Variações do Número de Cópias de DNA , Orosomucoide , Trombofilia , Tromboembolia Venosa , Humanos , Estudo de Associação Genômica Ampla , Fenótipo , Fatores de Risco , Trombofilia/diagnóstico , Trombofilia/genética , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/genética , Orosomucoide/genética , Ácidos Nucleicos Livres/genética
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