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1.
Int Ophthalmol ; 44(1): 323, 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38980416

RESUMO

BACKGROUND: Cataract is the leading cause of blindness worldwide and surgery can restore vision in most patients. Some patients have little access to surgical services due to lack of cataract surgeons and the unaffordable costs. In 2005 we built a service model that trained rural non-ophthalmologist physicians to perform cataract surgeries in rural China. This study evaluates the long-term impacts of this model. METHODS: We conducted a retrospective cohort study to analyze patients' hand-written medical records and electronic outpatient record between January 2005 and December 2019 at two rural health clinics in Southern China. RESULTS: In total, 34,601 patients (49,942 eyes) underwent cataract surgery by non-ophthalmologist physicians from 2005 to 2019.Visual acuity was clearly documented in 38,251 eyes. Before surgery, the unaided distance visual acuity (UDVA) of 60.7% (23,205/38,251) eyes was less than 0.05 decimal. On the first day after surgery, the percentage of UDVA < 0.05 eyes was reduced to 6.0%, and 96.7% (36,980/38,251) of the eyes achieved a better UDVA compared to pre-operation. Surgical-related complications occurred in 218 eyes. The most common complication was posterior capsule rupture (114, 0.23%). 44.3% (15,341/34,601) of the patients chose to have a second eye cataract surgery (SECS) in the same clinic. At one of the outpatient clinics, 21,595 patients received basic eye care apart from cataract surgery between 2018 and 2020. CONCLUSIONS: Non-ophthalmologist physicians trained for cataract surgeries in rural clinics can improve cataract related visual acuity and basic eye care to the local population.


Assuntos
Extração de Catarata , Catarata , Acuidade Visual , Humanos , Estudos Retrospectivos , Extração de Catarata/estatística & dados numéricos , Extração de Catarata/métodos , Masculino , Feminino , Idoso , Catarata/epidemiologia , Catarata/complicações , Pessoa de Meia-Idade , China/epidemiologia , População Rural/estatística & dados numéricos , Serviços de Saúde Rural/estatística & dados numéricos , Idoso de 80 Anos ou mais , Oftalmologistas/estatística & dados numéricos , Adulto
2.
Int Ophthalmol ; 44(1): 318, 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38972925

RESUMO

PURPOSE: This study aims to introduce the coefficient of spatial variance of choroidal thickness to describe the choroidal variation and investigate its associated factors in healthy eyes. METHODS: This retrospective cross-sectional study included 1031 eyes from 1031 subjects who received a swept-source optical coherence tomography examination. The mean choroidal thickness in the macular 6 × 6 mm region and 900 subregions of 0.2 × 0.2 mm were computed using the embedded algorithm. Before analysis, potential segmentation and magnification errors were corrected. The coefficient of spatial variance was defined as the standard deviation divided by the mean (multiplied by 100%) of the choroidal thicknesses across 900 grids. Potential factors associated with the coefficient of spatial variance were assessed using multiple linear regression. RESULTS: The mean choroidal thickness of the entire 6 × 6 mm macular region was 204.50 ± 72.88 µm. The mean coefficient of spatial variance was 26.58 ± 8.24%, ranging from 11.00 to 61.58%. Statistical analysis revealed that the means choroidal thickness (ß = - 0.08, R2 = 0.42, p < 0.001) and anterior chamber depth (ß = - 2.39, R2 = 0.05, p = 0.06) were associated with the coefficient of spatial variance. CONCLUSION: Our study first incorporated the coefficient of spatial variance to represent the spatial variation of the choroidal thickness and observed that the greater thinning of the choroid is correlated with a more pronounced spatial variation.


Assuntos
Corioide , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Corioide/diagnóstico por imagem , Corioide/anatomia & histologia , Estudos Retrospectivos , Estudos Transversais , Masculino , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Voluntários Saudáveis , Adulto Jovem
3.
Medicine (Baltimore) ; 103(27): e38742, 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38968482

RESUMO

In orthodontic treatment of patients during the mixed dentition period, arch expansion and opening deep overbite are one of the objectives to achieve proper alignment of the teeth and correction of sagittal and vertical discrepancies. However, the expected outcomes of most therapeutic regimens are not clear, making it impossible to standardize early treatment effects. Therefore, this study was designed to evaluate the impact of the Invisalign® First System on the dental arch circumference and incisor inclination in patients during the mixed dentition period. A total of 21 children during the mixed dentition period (10 females and 11 males, with an average age of 8.76 years) were included in this study. The patients received non-extraction treatment through Invisalign® First System clear aligners, and no other auxiliary devices were used except Invisalign® accessories. Subsequently, the cooperation degree of patients during treatment and the oral measurement parameters at the beginning (T1) and the end (T2) of treatment were collected. All patients showed moderate/good cooperation degree during treatment. Besides, horizontal width of the maxillary first molar increased significantly; the designed arch expansion was 4.1 mm (±1.4 mm), while the actual arch expansion was 3.0 mm (±1.7 mm). Furthermore, the torque expression rate of upper anterior teeth reached 56.53%. Invisalign® First System clear aligners can effectively correct the teeth of patients during the mixed dentition period, widen the circumference of dental arch, and control the torque of incisors.


Assuntos
Dentição Mista , Incisivo , Má Oclusão , Dente Molar , Torque , Humanos , Masculino , Feminino , Criança , Má Oclusão/terapia , Aparelhos Ortodônticos Removíveis , Arco Dental , Desenho de Aparelho Ortodôntico , Técnicas de Movimentação Dentária/instrumentação , Técnicas de Movimentação Dentária/métodos
4.
Sci Total Environ ; 946: 174264, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38936716

RESUMO

Benzotriazole ultraviolet absorbents (BUAs) of emerging concern were recently monitored in seawater and sediments from the Bohai Sea (BS) and North Yellow Sea (NYS), which are impacted by human activities, to elucidate their regional occurrence patterns, phase distributions, and contamination profiles. Although environmental variables such as sedimentary organic carbon, particle size, and salinity, as well as hydrological conditions, affected the environmental occurrence of BUAs in the BS and NYS, the source dependence of BUA distributions associated with urban impacts and riverine inputs was highlighted. Substantial spatial variability in the composition patterns and contamination profiles of BUAs identified through correlation and principal component analyses were likely caused by region-specific sources and characteristics. The distribution of target BUAs between the sediment and seawater phases showed no dependence on the octanol-water partition coefficient (KOW) but exhibited marked spatial variations. The diversity of BUA sorption behaviors was further explained by the total organic carbon (TOC)-normalized distribution coefficient (KTOC). Classic logKTOC-logKOW linear relationships accurately predicted the phase distributions of UV-326, UV-328, and UV-234, but deviations were found for lighter and heavier BUAs, possibly due to the influences of physical disturbance and microparticle binding.

6.
Sci Adv ; 10(20): eadn9896, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38758785

RESUMO

Hydrodeoxygenation of oxygen-rich molecules toward hydrocarbons is attractive yet challenging in the sustainable biomass upgrading. The typical supported metal catalysts often display unstable catalytic performances owing to the migration and aggregation of metal nanoparticles (NPs) into large sizes under harsh conditions. Here, we develop a crystal growth and post-synthetic etching method to construct hollow chromium terephthalate MIL-101 (named as HoMIL-101) with one layer of sandwiched Ru NPs as robust catalysts. Impressively, HoMIL-101@Ru@MIL-101 exhibits the excellent activity and stability for hydrodeoxygenation of biomass-derived levulinic acid to gamma-valerolactone under 50°C and 1-megapascal H2, and its activity is about six times of solid sandwich counterparts, outperforming the state-of-the-art heterogeneous catalysts. Control experiments and theoretical simulation clearly indicate that the enrichment of levulinic acid and H2 by nanocavity as substrate regulator enables self-regulating the backwash of both substrates toward Ru NPs sandwiched in MIL-101 shells for promoting reaction with respect to solid counterparts, thus leading to the substantially enhanced performance.

7.
Ann Surg Oncol ; 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38802711

RESUMO

PURPOSE: Robot-assisted radical cystectomy (RARC) has gained traction in the management of muscle invasive bladder cancer. Urinary diversion for RARC was achieved with orthotopic neobladder and ileal conduit. Evidence on the optimal method of urinary diversion was limited. Long-term outcomes were not reported before. This study was designed to compare the perioperative and oncological outcomes of ileal conduit versus orthotopic neobladder cases of nonmetastatic bladder cancer treated with RARC. PATIENTS AND METHODS: The Asian RARC consortium was a multicenter registry involving nine Asian centers. Consecutive patients receiving RARC were included. Cases were divided into the ileal conduit and neobladder groups. Background characteristics, operative details, perioperative outcomes, recurrence information, and survival outcomes were reviewed and compared. Primary outcomes include disease-free and overall survival. Secondary outcomes were perioperative results. Multivariate regression analyses were performed. RESULTS: From 2007 to 2020, 521 patients who underwent radical cystectomy were analyzed. Overall, 314 (60.3%) had ileal conduit and 207 (39.7%) had neobladder. The use of neobladder was found to be protective in terms of disease-free survival [Hazard ratio (HR) = 0.870, p = 0.037] and overall survival (HR = 0.670, p = 0.044) compared with ileal conduit. The difference became statistically nonsignificant after being adjusted in multivariate cox-regression analysis. Moreover, neobladder reconstruction was not associated with increased blood loss, nor additional risk of major complications. CONCLUSIONS: Orthotopic neobladder urinary diversion is not inferior to ileal conduit in terms of perioperative safety profile and long-term oncological outcomes. Further prospective studies are warranted for further investigation.

8.
BMC Neurol ; 24(1): 155, 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38714927

RESUMO

BACKGROUND: Chronic lung and heart diseases are more likely to lead an intensive end point after stroke onset. We aimed to investigate characteristics and outcomes of endovascular thrombectomy (EVT) in patients with acute large vessel occlusion stroke (ALVOS) and identify the role of comorbid chronic cardiopulmonary diseases in ALVOS pathogenesis. METHODS: In this single-center retrospective study, 191 consecutive patients who underwent EVT due to large vessel occlusion stroke in neurological intensive care unit were included. The chronic cardiopulmonary comorbidities and several conventional stroke risk factors were assessed. The primary efficacy outcome was functional independence (defined as a mRS of 0 to 2) at day 90. The primary safety outcomes were death within 90 days and the occurrence of symptomatic intracranial hemorrhage(sICH). Univariate analysis was applied to evaluate the relationship between factors and clinical outcomes, and logistic regression model were developed to predict the prognosis of ALVOS. RESULTS: Endovascular therapy in ALVOS patients with chronic cardiopulmonary diseases, as compared with those without comorbidity, was associated with an unfavorable shift in the NHISS 24 h after EVT [8(4,15.25) versus 12(7.5,18.5), P = 0.005] and the lower percentage of patients who were functionally independent at 90 days, defined as a score on the modified Rankin scale of 0 to 2 (51.6% versus 25.4%, P = 0.000). There was no significant between-group difference in the frequency of mortality (12.1% versus 14.9%, P = 0.580) and symptomatic intracranial hemorrhage (13.7% versus 19.4%, P = 0.302) or of serious adverse events. Moreover, a prediction model showed that existence of cardiopulmonary comorbidities (OR = 0.456, 95%CI 0.209 to 0.992, P = 0.048) was independently associated with functional independence at day 90. CONCLUSIONS: EVT was safe in ALVOS patients with chronic cardiopulmonary diseases, whereas the unfavorable outcomes were achieved in such patients. Moreover, cardiopulmonary comorbidity had certain clinical predictive value for worse stroke prognosis.


Assuntos
Comorbidade , Procedimentos Endovasculares , Trombectomia , Humanos , Masculino , Feminino , Idoso , Estudos Retrospectivos , Pessoa de Meia-Idade , Procedimentos Endovasculares/métodos , Trombectomia/métodos , Trombectomia/estatística & dados numéricos , Trombectomia/efeitos adversos , Cardiopatias/epidemiologia , Cardiopatias/complicações , Cardiopatias/cirurgia , Idoso de 80 Anos ou mais , Estudos de Coortes , Pneumopatias/epidemiologia , Pneumopatias/cirurgia , Resultado do Tratamento , AVC Isquêmico/cirurgia , AVC Isquêmico/epidemiologia , Acidente Vascular Cerebral/cirurgia , Acidente Vascular Cerebral/epidemiologia
9.
Med Image Anal ; 96: 103214, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38815358

RESUMO

Multi-modal ophthalmic image classification plays a key role in diagnosing eye diseases, as it integrates information from different sources to complement their respective performances. However, recent improvements have mainly focused on accuracy, often neglecting the importance of confidence and robustness in predictions for diverse modalities. In this study, we propose a novel multi-modality evidential fusion pipeline for eye disease screening. It provides a measure of confidence for each modality and elegantly integrates the multi-modality information using a multi-distribution fusion perspective. Specifically, our method first utilizes normal inverse gamma prior distributions over pre-trained models to learn both aleatoric and epistemic uncertainty for uni-modality. Then, the normal inverse gamma distribution is analyzed as the Student's t distribution. Furthermore, within a confidence-aware fusion framework, we propose a mixture of Student's t distributions to effectively integrate different modalities, imparting the model with heavy-tailed properties and enhancing its robustness and reliability. More importantly, the confidence-aware multi-modality ranking regularization term induces the model to more reasonably rank the noisy single-modal and fused-modal confidence, leading to improved reliability and accuracy. Experimental results on both public and internal datasets demonstrate that our model excels in robustness, particularly in challenging scenarios involving Gaussian noise and modality missing conditions. Moreover, our model exhibits strong generalization capabilities to out-of-distribution data, underscoring its potential as a promising solution for multimodal eye disease screening.


Assuntos
Oftalmopatias , Humanos , Oftalmopatias/diagnóstico por imagem , Imagem Multimodal , Reprodutibilidade dos Testes , Interpretação de Imagem Assistida por Computador/métodos , Algoritmos , Aprendizado de Máquina
10.
Transl Vis Sci Technol ; 13(4): 24, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38630469

RESUMO

Purpose: To investigate the topographic characters of inter-individual variations of the macular choroidal thickness (CT). Methods: This was a retrospective study. Macular CT data for 900 0.2 × 0.2-mm grids from 410 healthy eyes were collected from swept-source optical coherence tomography. Following the analysis of factors associated with mean CT, the ß-coefficients of the included associated factors in each grid were summarized for choroidal thickness changes analysis. Additionally, the coefficient of variance (CoV), coefficient of determination (CoD), and coefficient of variance unexplained (CoVU) for CT were calculated in each individual grid to investigate the inter-individual choroidal variations pattern. Results: Sex (ß = -17.26, female vs. male), age (ß = -1.61, per 1 year), and axial length (ß = -18.62, per 1 mm) were associated with mean macular CT. Females had a thinner choroid in all 900 grids (0.5-26.9 µm). As age increased, the CT noticeably decreased (8.74-19.87 µm per 10 years) in the temporal regions. With axial length elongation, the thinning (7.94-24.91 µm per 1 mm) was more evident in subfoveal and nasal regions. Both the CoV (34.69%-58.00%) and CoVU (23.05%-40.78%) were lower in the temporal regions, whereas the CoD (18.41%-39.66%) was higher in the temporal regions. Conclusions: Choroidal thinning is more predominant in the subfoveal and nasal regions with axial length elongation, but in the temporal region with aging. The inter-individual variation of CT is higher and less determined by sex, age, or axial length in the nasal regions. Translational Relevance: Topographic variation should be considered when interpreting choroidal thickness.


Assuntos
Corioide , Tomografia de Coerência Óptica , Feminino , Masculino , Humanos , Criança , Estudos Retrospectivos , Corioide/diagnóstico por imagem
11.
Heliyon ; 10(8): e29382, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38660246

RESUMO

CRISPR-based screens have discovered novel functional genes involving in diverse tumor biology and elucidated the mechanisms of the cancer pathological states. Recently, with its randomness and unbiasedness, CRISPR screens have been used to discover effector genes with previously unknown roles for AML. Those novel targets are related to AML survival resembled cellular pathways mediating epigenetics, synthetic lethality, transcriptional regulation, mitochondrial and energy metabolism. Other genes that are crucial for pharmaceutical targeting and drug resistance have also been identified. With the rapid development of novel strategies, such as barcodes and multiplexed mosaic CRISPR perturbation, more potential therapeutic targets and mechanism in AML will be discovered. In this review, we present an overview of recent progresses in the development of CRISPR-based screens for the mechanism and target identification in AML and discuss the challenges and possible solutions in this rapidly growing field.

12.
IEEE Trans Biomed Eng ; PP2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38662563

RESUMO

OBJECTIVE: Optical Coherence Tomography (OCT) images can provide non-invasive visualization of fundus lesions; however, scanners from different OCT manufacturers largely vary from each other, which often leads to model deterioration to unseen OCT scanners due to domain shift. METHODS: To produce the T-styles of the potential target domain, an Orthogonal Style Space Reparameterization (OSSR) method is proposed to apply orthogonal constraints in the latent orthogonal style space to the sampled marginal styles. To leverage the high-level features of multi-source domains and potential T-styles in the graph semantic space, a Graph Adversarial Network (GAN) is constructed to align the generated samples with the source domain samples. To align features with the same label based on the semantic feature in the graph semantic space, Graph Semantic Alignment (GSA) is performed to focus on the shape and the morphological differences between the lesions and their surrounding regions. RESULTS: Comprehensive experiments have been performed on two OCT image datasets. Compared to state-of-the-art methods, the proposed method can achieve better segmentation. CONCLUSION: The proposed fundus lesion segmentation method can be trained with labeled OCT images from multiple manufacturers' scanners and be tested on an unseen manufacturer's scanner with better domain generalization. SIGNIFICANCE: The proposed method can be used in routine clinical occasions when an unseen manufacturer's OCT image is available for a patient.

13.
Nat Genet ; 56(5): 767-777, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38689000

RESUMO

We develop a method, SBayesRC, that integrates genome-wide association study (GWAS) summary statistics with functional genomic annotations to improve polygenic prediction of complex traits. Our method is scalable to whole-genome variant analysis and refines signals from functional annotations by allowing them to affect both causal variant probability and causal effect distribution. We analyze 50 complex traits and diseases using ∼7 million common single-nucleotide polymorphisms (SNPs) and 96 annotations. SBayesRC improves prediction accuracy by 14% in European ancestry and up to 34% in cross-ancestry prediction compared to the baseline method SBayesR, which does not use annotations, and outperforms other methods, including LDpred2, LDpred-funct, MegaPRS, PolyPred-S and PRS-CSx. Investigation of factors affecting prediction accuracy identifies a significant interaction between SNP density and annotation information, suggesting whole-genome sequence variants with annotations may further improve prediction. Functional partitioning analysis highlights a major contribution of evolutionary constrained regions to prediction accuracy and the largest per-SNP contribution from nonsynonymous SNPs.


Assuntos
Estudo de Associação Genômica Ampla , Anotação de Sequência Molecular , Herança Multifatorial , Polimorfismo de Nucleotídeo Único , Herança Multifatorial/genética , Estudo de Associação Genômica Ampla/métodos , Humanos , Anotação de Sequência Molecular/métodos , Genômica/métodos , Genoma Humano , Modelos Genéticos
14.
Mol Psychiatry ; 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-38575805

RESUMO

The dominant ('general') version of the diathesis-stress theory of depression views stressors and genetic vulnerability as independent risks. In the Australian Genetics of Depression Study (N = 14,146; 75% female), we tested whether polygenic scores (PGS) for major depression, bipolar disorder, schizophrenia, anxiety, ADHD, and neuroticism were associated with reported exposure to 32 childhood, past-year, lifetime, and accumulated stressful life events (SLEs). In false discovery rate-corrected models, the clearest PGS-SLE relationships were for the ADHD- and depression-PGSs, and to a lesser extent, the anxiety- and schizophrenia-PGSs. We describe the associations for childhood and accumulated SLEs, and the 2-3 strongest past-year/lifetime SLE associations. Higher ADHD-PGS was associated with all childhood SLEs (emotional abuse, emotional neglect, physical neglect; ORs = 1.09-1.14; p's < 1.3 × 10-5), more accumulated SLEs, and reported exposure to sudden violent death (OR = 1.23; p = 3.6 × 10-5), legal troubles (OR = 1.15; p = 0.003), and sudden accidental death (OR = 1.14; p = 0.006). Higher depression-PGS was associated with all childhood SLEs (ORs = 1.07-1.12; p's < 0.013), more accumulated SLEs, and severe human suffering (OR = 1.17; p = 0.003), assault with a weapon (OR = 1.12; p = 0.003), and living in unpleasant surroundings (OR = 1.11; p = 0.001). Higher anxiety-PGS was associated with childhood emotional abuse (OR = 1.08; p = 1.6 × 10-4), more accumulated SLEs, and serious accident (OR = 1.23; p = 0.004), physical assault (OR = 1.08; p = 2.2 × 10-4), and transportation accident (OR = 1.07; p = 0.001). Higher schizophrenia-PGS was associated with all childhood SLEs (ORs = 1.12-1.19; p's < 9.3-8), more accumulated SLEs, and severe human suffering (OR = 1.16; p = 0.003). Higher neuroticism-PGS was associated with living in unpleasant surroundings (OR = 1.09; p = 0.007) and major financial troubles (OR = 1.06; p = 0.014). A reversed pattern was seen for the bipolar-PGS, with lower odds of reported physical assault (OR = 0.95; p = 0.014), major financial troubles (OR = 0.93; p = 0.004), and living in unpleasant surroundings (OR = 0.92; p = 0.007). Genetic risk for several mental disorders influences reported exposure to SLEs among adults with moderately severe, recurrent depression. Our findings emphasise that stressors and diatheses are inter-dependent and challenge diagnosis and subtyping (e.g., reactive/endogenous) based on life events.

15.
Psychoneuroendocrinology ; 164: 107018, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38461634

RESUMO

Aging is associated with changes in face processing, including desensitization to face cues like gaze direction and an attentional preference to faces with positive over negative emotional valence. A parallel line of research has shown that acute administration of oxytocin (OT) increases visual attention to social stimuli such as human faces. The current study examined effects of chronic OT administration among older adults on fixation duration to faces that varied in emotional expression, gaze direction, age, and sex. One hundred and twelve generally healthy older adults (aged 55-95 years) underwent a randomized, placebo-controlled, double-blind, between-subject clinical trial in which they self-administered either OT or placebo (P) intranasally twice a day for 4 weeks. The behavioral task involved rating the trustworthiness of faces (i.e., social stimuli) and natural scenes (i.e., non-social control stimuli) during eye tracking and was conducted before and after the intervention. Fixation duration to both the faces and the natural scenes declined from pre- to post-intervention, however this decline was less pronounced among older adults in the OT compared to the P group for faces but not scenes. Further, face cues (emotional expression, gaze direction, age, sex) did not moderate the treatment effect. This study provides first evidence that chronic intranasal OT maintains salience of social cues over time in older adults, perhaps buffering effects of habituation. These findings enhance understanding of OT effects on social cognition among older adults, and would benefit from follow up with a young adult comparison group to directly speak to specificity of observed effects to older adults and reflection of the aging process.


Assuntos
Emoções , Ocitocina , Idoso , Humanos , Administração Intranasal , Envelhecimento/psicologia , Sinais (Psicologia) , Método Duplo-Cego , Ocitocina/farmacologia
16.
Nat Commun ; 15(1): 2713, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38548728

RESUMO

DNA methylation is an ideal trait to study the extent of the shared genetic control across ancestries, effectively providing hundreds of thousands of model molecular traits with large QTL effect sizes. We investigate cis DNAm QTLs in three European (n = 3701) and two East Asian (n = 2099) cohorts to quantify the similarities and differences in the genetic architecture across populations. We observe 80,394 associated mQTLs (62.2% of DNAm probes with significant mQTL) to be significant in both ancestries, while 28,925 mQTLs (22.4%) are identified in only a single ancestry. mQTL effect sizes are highly conserved across populations, with differences in mQTL discovery likely due to differences in allele frequency of associated variants and differing linkage disequilibrium between causal variants and assayed SNPs. This study highlights the overall similarity of genetic control across ancestries and the value of ancestral diversity in increasing the power to detect associations and enhancing fine mapping resolution.


Assuntos
Metilação de DNA , População do Leste Asiático , Humanos , Metilação de DNA/genética , Locos de Características Quantitativas/genética , Regulação da Expressão Gênica , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Estudo de Associação Genômica Ampla
17.
Cereb Cortex ; 34(3)2024 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-38436464

RESUMO

This study aimed to investigate network-level brain functional changes in breast cancer patients and their relationship with fear of cancer recurrence (FCR). Resting-state functional MRI was collected from 43 patients with breast cancer and 40 healthy controls (HCs). Graph theory analyses, whole-brain voxel-wise functional connectivity strength (FCS) analyses and seed-based functional connectivity (FC) analyses were performed to identify connection alterations in breast cancer patients. Correlations between brain functional connections (i.e. FCS and FC) and FCR level were assessed to further reveal the neural mechanisms of FCR in breast cancer patients. Graph theory analyses indicated a decreased clustering coefficient in breast cancer patients compared to HCs (P = 0.04). Patients with breast cancer exhibited significantly higher FCS in both higher-order function networks (frontoparietal, default mode, and dorsal attention systems) and primary somatomotor networks. Among the hyperconnected regions in breast cancer, the left inferior frontal operculum demonstrated a significant positive correlation with FCR. Our findings suggest that breast cancer patients exhibit less segregation of brain function, and the left inferior frontal operculum is a key region associated with FCR. This study offers insights into the neural mechanisms of FCR in breast cancer patients at the level of brain connectome.


Assuntos
Neoplasias Encefálicas , Neoplasias da Mama , Conectoma , Humanos , Feminino , Neoplasias da Mama/diagnóstico por imagem , Neoplasias Encefálicas/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Medo
19.
High Alt Med Biol ; 25(2): 129-135, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38511279

RESUMO

Lin, Tian, Huaping Jia, Yunming Li, Yongxing Xu, Bei Zhao, Dong Zheng, Hongfeng Yan, Meihui Zhao, Yanlei Li, Liping Xia, Fengxia Zhou, Cuiping Liu, Ke Ma, Ma Mi, and Jianwen Gu. Epidemiological survey of congenital heart disease among children aged from 2 to 18 in Suo County, Nagqu, Tibet. High Alt Med Biol. 00:000-000, 2024. Background: Studies have reported the prevalence of congenital heart disease (CHD) in parts of Tibet, but relative epidemiological surveys are rare. We aimed to explore the prevalence of CHD in children and its relationship with family history in Suo County, Nagqu, Tibet, an altitude of 3,980 meters. Methods: We recruited 4,002 children aged 2-18 years. Subjects underwent a family history investigation, cardiac auscultation, and clinical manifestation examination and then received echocardiographic screening. Results: The prevalence of CHD among children in Suo County was 0.97% (39 cases), much higher than the prevalence at sea level. The most common subtype was atrial septal defect, accounting for 53.9% of CHD, followed by patent ductus arteriosus (33.3%) and ventricular septal defect (12.8%). We also found that children whose mothers had previously borne children with CHD had a higher risk of CHD than those without (p = 0.002); other factors related to CHD during pregnancy, such as smoking, drinking, drug use, and viral infection, showed no statistical differences between children with and without CHD. Conclusions: The prevalence of CHD in children in Suo County is much higher than at low altitude, consisting mostly of simple forms with left-to-right shunt, with rare complex CHD. These results support implementing diagnostic and treatment plans to prevent CHD in Suo County.


Assuntos
Altitude , Cardiopatias Congênitas , Humanos , Tibet/epidemiologia , Feminino , Masculino , Cardiopatias Congênitas/epidemiologia , Criança , Prevalência , Adolescente , Pré-Escolar , Fatores de Risco , Comunicação Interatrial/epidemiologia , Ecocardiografia
20.
Environ Sci Technol ; 58(9): 4392-4403, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38362876

RESUMO

Unraveling the mysterious pathways of pollutants to the deepest oceanic realms holds critical importance for assessing the integrity of remote marine ecosystems. This study tracks the transport of pollutants into the depths of the oceans, a key step in protecting the sanctity of these least explored ecosystems. By analyzing hadal trench samples from the Mariana, Mussau, and New Britain trenches, we found the widespread distribution of organophosphate ester (OPE) flame retardants but a complex transport pattern for the OPE in these regions. In the Mariana Trench seawater column, OPE concentrations range between 17.4 and 102 ng L-1, with peaks at depths of 500 and 4000 m, which may be linked to Equatorial Undercurrent and topographic Rossby waves, respectively. Sediments, particularly in Mariana (422 ng g-1 dw), showed high OPE affinity, likely due to organic matter serving as a transport medium, influenced by "solvent switching", "solvent depletion", and "filtering processes". Amphipods in the three trenches had consistent OPE levels (29.1-215 ng g-1 lipid weight), independent of the sediment pollution patterns. The OPEs in these amphipods appeared more linked to surface-dwelling organisms, suggesting the influence of "solvent depletion". This study highlights the need for an improved understanding of deep-sea pollutant sources and transport, urging the establishment of protective measures for these remote marine habitats.


Assuntos
Anfípodes , Poluentes Ambientais , Retardadores de Chama , Animais , Ecossistema , Organofosfatos , Ésteres , Solventes
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