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1.
Arch Acad Emerg Med ; 12(1): e31, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38721446

RESUMO

Introduction: Aneurysmal subarachnoid hemorrhage (SAH) constitutes a life-threatening condition, and identifying the ruptured aneurysm is essential for further therapy. This study aimed to evaluate the diagnostic accuracy of hypo-attenuating berry sign (HBS) observed on computed tomography (CT) scan in distinguishing ruptured aneurysms. Methods: In this diagnostic accuracy study, patients who had SAH and underwent non-enhanced brain CT scan were recruited. The HBS was defined as a hypo-attenuating area with an identifiable border in the blood-filled hyper-dense subarachnoid space. The screening performance characteristics of HBS in identifying ruptured aneurysms were calculated considering the digital subtraction angiography (DSA) as the gold standard. Results: A total of 129 aneurysms in 131 patients were analyzed. The overall sensitivity and specificity of HBS in the diagnosis of aneurysms were determined to be 78.7% (95%CI: 73.1% - 83.4%) and 70.7% (95%CI: 54.3% - 83.4%), respectively. Notably, the sensitivity increased to 90.9% (95%CI: 84.3% - 95.0%) for aneurysms larger than 5mm. The level of inter-observer agreement for assessing the presence of HBS was found to be substantial (kappa=0.734). The diagnostic accuracy of HBS in individuals exhibited enhanced specificity, sensitivity, and reliability when evaluating patients with a solitary aneurysm or assessing ruptured aneurysms. The multivariate logistic regression analysis revealed a statistically significant relationship between aneurysm size and the presence of HBS (odds ratios of 1.667 (95%CI: 1.238 - 2.244; p < 0.001) and 1.696 (95%CI: 1.231 - 2.335; p = 0.001) for reader 1 and reader 2, respectively). Conclusions: The HBS can serve as a simple and easy-to-use indicator for identifying a ruptured aneurysm and estimating its size in SAH patients.  .

2.
Plant Cell ; 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38723161

RESUMO

The conserved microRNA (miRNA) miR408 enhances photosynthesis and compromises stress tolerance in multiple plants, but the cellular mechanism underlying its function remains largely unclear. Here, we show that in Arabidopsis (Arabidopsis thaliana), the transcript encoding the blue copper protein PLANTACYANIN (PCY) is the primary target for miR408 in vegetative tissues. PCY is preferentially expressed in the guard cells, and PCY is associated with the endomembrane surrounding individual chloroplasts. We found that the MIR408 promoter is suppressed by multiple abscisic acid (ABA)-responsive transcription factors, thus allowing PCY to accumulate under stress conditions. Genetic analysis revealed that PCY elevates reactive oxygen species (ROS) levels in the guard cells, promotes stomatal closure, reduces photosynthetic gas exchange, and enhances drought resistance. Moreover, the miR408-PCY module is sufficient to rescue the growth and drought tolerance phenotypes caused by gain- and loss-of-function of MYB44, an established positive regulator of ABA responses, indicating that the miR408-PCY module relays ABA signaling for regulating ROS homeostasis and drought resistance. These results demonstrate that miR408 regulates stomatal movement to balance growth and drought resistance, providing a mechanistic understanding of why miR408 is selected during land plant evolution and insights into the long-pursued quest of breeding drought-tolerant and high-yielding crops.

3.
Ecol Evol ; 14(4): e11322, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38651165

RESUMO

The western population of the red-crowned crane Grus japonensis in mainland China has been decreasing in the past few decades and wild population enhancement programmes have been launched in this country. First, 14 captive-bred red-crowned cranes were released into the core area of Yancheng National Nature Reserve for Rare Birds (YNNR), one of the most important wintering areas of this species, in 2013 (seven individuals) and 2015 (seven individuals) and then 8 more captive-bred cranes were released into YNNR from February 2022 to February 2023. We used satellite positioning and drone monitoring to study the status of released cranes. The results showed that two individuals (No. BJZ001 and BJZ008) from the first group of released cranes were found breeding in 6 of 7 years in the YNNR from 2017 to 2023. Three individuals (No. WNNR022, WNNR025 and WNNR026) from the second group of released cranes were recorded breeding in YNNR in 2023. All released cranes lived in the YNNR year round and did not migrate with wild cranes. Raccoon dogs, Nyctereutes procyonoides, were first recorded as red-crowned crane nest predators in the YNNR. Although these released cranes breed successfully in the YNNR, nestlings might face the threat of predators in non-traditional breeding areas. Further research is needed to determine whether offsprings of released individuals migrate with wild cranes and if breeding in their original wintering grounds is truly beneficial for population growth.

4.
Zhongguo Zhong Yao Za Zhi ; 49(3): 661-670, 2024 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-38621870

RESUMO

Scorpions, a group of oldest animals with wide distribution in the world, have a long history of medicinal use. Scorpio, the dried body of Buthus martensii, is a rare animal medicine mainly used for the treatment of liver diseases, spasm, and convulsions in children in China. The venom has been considered as the active substance of scorpions. However, little is known about the small molecules in the venom of scorpions. According to the articles published in recent years, scorpions contain amino acids, fatty acids, steroids, and alkaloids, which endow scorpions with antimicrobial, anticoagulant, metabolism-regulating, and antitumor activities. This paper summarizes the small molecule chemical components and pharmacological activities of scorpions, with a view to providing valuable information for the discovery of new active molecules and the clinical use of scorpions.


Assuntos
Animais Peçonhentos , Anti-Infecciosos , Venenos de Escorpião , Animais , Criança , Humanos , Peptídeos/química , Escorpiões/química , Escorpiões/metabolismo , DNA Complementar , Venenos de Escorpião/farmacologia
5.
BMC Ecol Evol ; 24(1): 54, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664655

RESUMO

BACKGROUND: Bolete cultivation is economically and ecologically valuable. Ectomycorrhizae are advantageous for plant development and productivity. This study investigated how boletes affect the formation of Pinus thunbergii and Quercus acutissima ectomycorrhizae using greenhouse-based mycorrhizal experiments, inoculating P. thunbergii and Q. acutissima with four species of boletes (Suillus bovinus, Suillus luteus, Suillus grevillei, and Retiboletus sinensis). RESULTS: Three months after inoculation, morphological and molecular analyses identified S. bovinus, S. luteus, S. grevillei and R. sinensis ectomycorrhizae formation on the roots of both tree species. The mycorrhizal infection rate ranged from 40 to 55%. The host plant species determined the mycorrhiza morphology, which was independent of the bolete species. Differences in plant growth, photosynthesis, and endogenous hormone secretion primarily correlated with the host plant species. Infection with all four bolete species significantly promoted the host plants' growth and photosynthesis rates; indole-3-acetic acid, zeatin, and gibberellic acid secretion increased, and the abscisic acid level significantly decreased. Indole-3-acetic acid was also detected in the fermentation broths of all bolete species. CONCLUSIONS: Inoculation with bolete and subsequent mycorrhizae formation significantly altered the morphology and hormone content in the host seedlings, indicating growth promotion. These findings have practical implications for culturing pine and oak tree species.


Assuntos
Micorrizas , Pinus , Quercus , Micorrizas/fisiologia , Quercus/microbiologia , Quercus/crescimento & desenvolvimento , Pinus/microbiologia , Pinus/crescimento & desenvolvimento , Basidiomycota/fisiologia , Raízes de Plantas/microbiologia , Raízes de Plantas/crescimento & desenvolvimento , Reguladores de Crescimento de Plantas/metabolismo , Fotossíntese
6.
World J Clin Cases ; 12(8): 1497-1503, 2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38576820

RESUMO

BACKGROUND: Patients rarely develop complicated infections in thyroid cysts. Here, we describe a patient with chronic infected unilateral giant thyroid cyst related to diabetes mellitus (DM). CASE SUMMARY: A 66-year-old male was admitted due to an evident neck lump for 5 d after approximately 40 years of gradually progressive neck mass and 7 years of DM. Doppler ultrasound and computed tomography scan showed a giant lump in the left thyroid gland lobe. He was diagnosed with a large thyroid nodule complicated by tracheal dislocation and had surgical indications. Surgical exploration revealed evident inflammatory edema and exudation between the left anterior neck muscles, the nodule and glandular tissue. Fortunately, inflammatory lesions did not affect major neck vessels. Finally, a left partial thyroidectomy was performed. Macroscopic observation showed that the cystic thyroid mass consisted of extensive cystic wall calcification and was rich in massive rough sand-like calculi content and purulent matter. Postoperative pathology confirmed benign thyroid cyst with chronic infection. CONCLUSION: The progression of this chronic infectious unilateral giant thyroid cyst may have been related to DM, and identifying blood vessels involvement can prevent serious complications during operation.

7.
J Alzheimers Dis ; 98(3): 1133-1143, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38578896

RESUMO

Background: Patients with transient ischemic attack (TIA) or ischemic stroke demonstrate an increased risk of cognitive dysfunction. Accumulating evidence indicates that ischemic cerebrovascular disease (ICVD) may interact with the amyloid/tau/neurodegeneration (AT[N]) biomarkers to promote dementia. However, the precise pathological mechanisms remain to be fully characterized. Objective: To elucidate the interrelationships among ICVD, ATN biomarkers in cerebrospinal fluid (CSF), and cognition. Methods: A total of 2524 participants were recruited from the CABLE study. ICVD referred to TIA/ischemic stroke. Cognitive performance was assessed by China Modified Mini-Mental State Examination (CM-MMSE) and Montreal Cognitive Assessment-b (MoCA-b). Multivariate linear regression analyses were performed to evaluate the associations of ICVD with CSF ATN biomarkers and cognition. Causal mediation analyses were used to identify whether the association was mediated by ATN biomarkers. Results: ICVD was associated with higher total-tau (t-tau) (p = 2.828×10-2) and poorer cognition (CM-MMSE: p = 1.539×10-5, MoCA-b: p = 4.552×10-6). Additionally, no discernible correlation surfaced between ICVD and amyloid-ß (Aß) 42 (p = 6.910×10-1) or phosphorylated tau (p-tau) (p = 4.324×10-1). The influence of ICVD on cognitive function was partially mediated by CSF t-tau (CM-MMSE: proportion: 2.74%, MoCA-b: proportion: 2.51%). Subgroup analyses revealed the influences of t-tau were especially evident in male (CM-MMSE: proportion: 5.45%, MoCA-b: proportion: 5.38%) and mid-life group (CM-MMSE: proportion: 9.83%, MoCA-b: proportion: 5.31%). Conclusions: These results delineated t-tau as a potential mediator for the influence of ICVD on cognition. Targeting brain ischemia and alleviating neuronal injury induced by ischemia may be a promising approach for preventing cognitive decline.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Ataque Isquêmico Transitório , AVC Isquêmico , Humanos , Masculino , Proteínas tau/líquido cefalorraquidiano , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Biomarcadores/líquido cefalorraquidiano , Doença de Alzheimer/psicologia
8.
J Alzheimers Dis ; 98(2): 629-642, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38427482

RESUMO

Background: Frailty is a vulnerability state increasing the risk of many adverse health outcomes, but little is known about the effects of frailty on neuropsychiatric health. Objective: To explore the associations between frailty and the risk of neuropsychiatric symptoms (NPSs) in Alzheimer's disease (AD), especially in its different clinical stages. Methods: We included 2,155 individuals assessed using modified frailty index-11 (mFI-11), Neuropsychiatric Inventory (NPI) and Neuropsychiatric Inventory Questionnaire (NPI-Q) in the Alzheimer's Disease Neuroimaging Initiative (ADNI). The relationships between frailty and NPSs were explored with logistic regression models and Cox proportional hazard regression models. Causal mediation analyses were conducted to explore the mediation factors between frailty and NPSs. Results: Among mild cognitive impairment (MCI) participants, frailty was cross-sectionally associated with an increased risk of apathy, and longitudinally associated with increased risk of depression and apathy. Among AD participants, frailty was cross-sectionally associated with increased risk of depression and anxiety, and longitudinally associated with an increased risk of apathy. Among participants with cognitive progression, frailty was associated with increased risk of depression and apathy. In MCI participants, the influence of frailty on NPSs was partially mediated by hippocampus volume, whole brain volume, and monocytes, with mediating proportions ranging from 8.40% to 9.29%. Conclusions: Frailty was associated with NPSs such as depression, anxiety, and apathy among MCI, AD, and cognitive progression participants. Atrophy of the hippocampus and whole brain, as well as peripheral immunity may be involved in the potential mechanisms underlying the above associations.


Assuntos
Doença de Alzheimer , Apatia , Disfunção Cognitiva , Fragilidade , Humanos , Doença de Alzheimer/complicações , Doença de Alzheimer/diagnóstico por imagem , Estudos Longitudinais , Fragilidade/complicações , Disfunção Cognitiva/psicologia , Testes Neuropsicológicos
9.
Chin J Dent Res ; 27(1): 53-63, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38546520

RESUMO

OBJECTIVE: To investigate FAM20A gene variants and histological features of amelogenesis imperfecta and to further explore the functional impact of these variants. METHODS: Whole-exome sequencing (WES) and Sanger sequencing were used to identify pathogenic gene variants in three Chinese families with amelogenesis imperfecta. Bioinformatics analysis, in vitro histological examinations and experiments were conducted to study the functional impact of gene variants, and the histological features of enamel, keratinised oral mucosa and dental follicle. RESULTS: The authors identified two nonsense variants c. 406C > T (p.Arg136*) and c.826C > T (p.Arg176*) in a compound heterozygous state in family 1, two novel frameshift variants c.936dupC (p.Val313Argfs*67) and c.1483dupC (p.Leu495Profs*44) in a compound heterozygous state in family 2, and a novel homozygous frameshift variant c.530_531insGGTC (p.Ser178Valfs*21) in family 3. The enamel structure was abnormal, and psammomatoid calcifications were identified in both the gingival mucosa and dental follicle. The bioinformatics and subcellular localisation analyses indicated these variants to be pathogenic. The secondary and tertiary structure analysis speculated that these five variants would cause structural damage to FAM20A protein. CONCLUSION: The present results broaden the variant spectrum and clinical and histological findings of diseases associated with FAM20A, and provide useful information for future genetic counselling and functional investigation.


Assuntos
Amelogênese Imperfeita , Proteínas do Esmalte Dentário , Humanos , Amelogênese Imperfeita/genética , Calcificação Fisiológica , Biologia Computacional , Esmalte Dentário , Proteínas do Esmalte Dentário/genética , População do Leste Asiático
10.
NPJ Parkinsons Dis ; 10(1): 70, 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38548756

RESUMO

This study aimed to investigate the association between irritable bowel syndrome (IBS) and Parkinson's disease (PD) utilizing prospective cohort study and Mendelian randomization. The dataset contained a substantial cohort of 426,911 participants from the UK Biobank, discussing the association between IBS and PD with Cox proportional hazards models and case-control analysis while adjusting for covariates such as age, gender, ethnicity and education level. In univariate Cox regression model, the risk of PD was reduced in IBS patients (HR: 0.774, 95%CI: 0.625-0.956, P = 0.017), but the statistical significance diminished in the three models after adjusting for other variables. In a few subgroup analyses, IBS patients are less likely to develop into PD, and patients diagnosed with IBS after 2000 also had a lower risk (HR: 0.633, 95%CI: 0.403-0.994, P = 0.047) of subsequently developing PD. In addition, we matched five healthy control participants based on gender and age at the end of the study for each IBS patient diagnosed during the follow-up period, and logistic regression results (OR:1.239, 95%CI: 0.896-1.680, P = 0.181) showed that IBS was not associated with the risk of PD. Mendelian randomization did not find significant evidence of the causal relationship between IBS and Parkinson's disease (OR: 0.801, 95%CI: 0.570-1.278, P = 0.204). Overall, we suggest that IBS status is not associated with the risk of developing PD, and that these findings provide valuable insights into the clinical management and resource allocation of patients with IBS.

11.
Sensors (Basel) ; 24(5)2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38475050

RESUMO

Latent Low-Rank Representation (LatLRR) has emerged as a prominent approach for fusing visible and infrared images. In this approach, images are decomposed into three fundamental components: the base part, salient part, and sparse part. The aim is to blend the base and salient features to reconstruct images accurately. However, existing methods often focus more on combining the base and salient parts, neglecting the importance of the sparse component, whereas we advocate for the comprehensive inclusion of all three parts generated from LatLRR image decomposition into the image fusion process, a novel proposition introduced in this study. Moreover, the effective integration of Convolutional Neural Network (CNN) technology with LatLRR remains challenging, particularly after the inclusion of sparse parts. This study utilizes fusion strategies involving weighted average, summation, VGG19, and ResNet50 in various combinations to analyze the fusion performance following the introduction of sparse parts. The research findings show a significant enhancement in fusion performance achieved through the inclusion of sparse parts in the fusion process. The suggested fusion strategy involves employing deep learning techniques for fusing both base parts and sparse parts while utilizing a summation strategy for the fusion of salient parts. The findings improve the performance of LatLRR-based methods and offer valuable insights for enhancement, leading to advancements in the field of image fusion.

12.
Metabolites ; 14(2)2024 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-38392977

RESUMO

Live prey is characterized by balanced rich nutrients and high palatability and is widely used for the seedling cultivation of freshwater dark sleeper (Odontobutis potamophila) larvae. In this study, we evaluated the effects of four groups of paired feeding regimens (group C (Daphnia magna), group L (Limnodrilus hoffmeisteri), group H (Hypophthalmichthys molitrix fry), and group M (mixed groups C, L, and H)) on glycolipid and energy metabolism in O. potamophila larvae. We observed that fatty acid synthase (FAS) and sterol-regulatory-element-binding protein-1 (SREBP-1) mRNA levels were significantly lower in group H when compared to mRNA levels in the other three groups (p < 0.05) and that carnitine palmitoyltransferase 1α (CPT1-α) mRNA levels were significantly lower in group L when compared to group M (p < 0.05). Relative glucokinase (GK) expression levels were significantly lower in group M when compared to the other three groups (p < 0.05). Using proteomics, we analyzed and compared groups H and L and identified 457 differentially expressed proteins (DEPs), of which 151 were significantly up-regulated and 306 were significantly down-regulated. In the comparison of group M with groups C, L, and H, we found significant enrichment in glycolytic processes, the endoplasmic reticulum lumen, NAD binding, intermediate filaments, and nutrient reservoir activity. Our results provide a theoretical guidance for bait selection during larvae cultivation stages in carnivorous fish.

13.
J Trop Pediatr ; 70(2)2024 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-38366669

RESUMO

OBJECTIVE: This study aims to investigate determinants impacting the surgical management of splenic trauma in paediatric patients by scrutinizing age distribution, etiological factors and concomitant injuries. The analysis seeks to establish a foundation for delineating optimal operative timing. METHODS: A cohort of 262 paediatric cases presenting with splenic trauma at our institution from January 2011 to December 2021 underwent categorization into either the conservative or operative group. RESULTS: Significantly disparate attributes between the two groups included age, time of presentation, blood pressure, haemoglobin levels, blood transfusion requirements, thermal absorption, American Association for the Surgery of Trauma (AAST) classification and associated injuries. Logistic regression analysis revealed age, haemoglobin levels, AAST classification and blood transfusion as autonomous influencers of surgical intervention (OR = 1.024, 95% CI: 1.011-1.037; OR = 1.067, 95% CI: 1.01-1.127; OR = 0.2760, 95% CI: 0.087-0.875; OR = 7.873, 95% CI: 2.442-25.382; OR = 0.016, 95% CI: 0.002-0.153). The AAST type and age demonstrated areas under the receiver operating characteristic (ROC) curve of 0.782 and 0.618, respectively. CONCLUSION: Age, haemoglobin levels, AAST classification and blood transfusion independently influence the decision for surgical intervention in paediatric patients with splenic trauma. Age and AAST classification emerge as viable parameters for assessing and prognosticating the likelihood of surgical intervention in this patient cohort.


Assuntos
Traumatismos Abdominais , Ferimentos não Penetrantes , Humanos , Criança , Baço/cirurgia , Estudos Retrospectivos , Ferimentos não Penetrantes/cirurgia , Traumatismos Abdominais/cirurgia , Hemoglobinas , Escala de Gravidade do Ferimento
14.
Sci Rep ; 14(1): 2986, 2024 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-38316914

RESUMO

Cattle dung treatments in Taiwan have developed a process called Black soldier fly larvae (BSFL) treatment, which can digest cow dung and generate the frass (larvae drops), the residue fiber in cow dung. This study aims to assess frass for its potential in pulp and papermaking, considering its chemical compositions, appearance, and fiber morphology, and also evaluate its suitability for pulping by soda method to create added value. The frass exhibits favorable material properties for pulping and papermaking, including a high holocellulose (67.37%) and α-cellulose (48.00%) content, along with a lower ash content (4.61%); the microstructure and surface mesoporous pores benefit for pulping; and the nonwood-fiber-like fiber morphology. The pulping experiment shows that 7% NaOH and 75 min of pulping conditions result in proper disintegration of fiber, and the highest accepts ratio (34.06%). The NaOH causes fiber disintegration during pulping, resulting in a higher strength property of the handsheet. The frass pulp blended with TOCC can achieve the ring crush index standards required for cardboard products. In summary, the frass from BSFL treatment of cattle dung can be utilized in pulp and papermaking to enhance circular utilization value.


Assuntos
Dípteros , Feminino , Bovinos , Animais , Larva , Hidróxido de Sódio/química , Celulose/química , Fezes
15.
Cancer Immunol Immunother ; 73(1): 1, 2024 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-38175202

RESUMO

BACKGROUND: Tumor-associated macrophages (TAMs) are the predominant immune cells in the tumor microenvironment and portend poor prognosis. However, the molecular mechanisms underlying the tumor promotion of TAMs have not been fully elucidated. METHODS: Coculture of gastric cancer cells with U937 cells was performed to investigate the impact of TAMs on cancer cell behavior. MicroRNA (miRNA) microarray and bioinformatics were applied to identify the involved miRNAs and the functional target genes. The regulation of the miRNA on its target gene was studied using anti-miRNA and miRNA mimic. RESULTS: Coculture with CD204+ M2-like TAMs increased proliferation, migration, and epithelial-mesenchymal transition of gastric cancer cells. MiR-210 was the most upregulated miRNA in cancer cells identified by miRNA microarray after coculture. In gastric cancer tissues, miR-210 expression was positively correlated with CD204+ M2-like TAM infiltration. Inactivation of miR-210 by antimir attenuated CD204+ M2-like TAMs-induced cancer cell migration. Using pharmacological inhibitors and neutralizing antibodies, CD204+ M2-like TAMs-secreted TNFα was found to upregulate miR-210 through NF-κB/HIF-1α signaling. Bioinformatics analysis showed netrin-4 (NTN4) as a potential target of miR-210 to suppress gastric cancer cell migration. We also found an inverse expression between miR-210 and NTN4 in cancer cells after coculture or in tumor xenografts. Anti-miR-210 increased NTN4 expression, while miR-210 mimics downregulated NTN4 in cancer cells. Reporter luciferase assays showed that MiR-210 mimics suppressed NTN4 3' untranslated region-driven luciferase activity in cancer cells, but this effect was blocked after mutating miR-210 binding site. CONCLUSIONS: CD204+ M2-like TAMs can utilize the TNF-α/NF-κB/HIF-1α/miR-210/NTN4 pathway to facilitate gastric cancer progression.


Assuntos
MicroRNAs , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/genética , NF-kappa B , Macrófagos Associados a Tumor , MicroRNAs/genética , Luciferases , Microambiente Tumoral , Netrinas
16.
Acta Neuropathol ; 147(1): 13, 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38194050

RESUMO

The development of the cerebral cortex involves a series of dynamic events, including cell proliferation and migration, which rely on the motor protein dynein and its regulators NDE1 and NDEL1. While the loss of function in NDE1 leads to microcephaly-related malformations of cortical development (MCDs), NDEL1 variants have not been detected in MCD patients. Here, we identified two patients with pachygyria, with or without subcortical band heterotopia (SBH), carrying the same de novo somatic mosaic NDEL1 variant, p.Arg105Pro (p.R105P). Through single-cell RNA sequencing and spatial transcriptomic analysis, we observed complementary expression of Nde1/NDE1 and Ndel1/NDEL1 in neural progenitors and post-mitotic neurons, respectively. Ndel1 knockdown by in utero electroporation resulted in impaired neuronal migration, a phenotype that could not be rescued by p.R105P. Remarkably, p.R105P expression alone strongly disrupted neuronal migration, increased the length of the leading process, and impaired nucleus-centrosome coupling, suggesting a failure in nucleokinesis. Mechanistically, p.R105P disrupted NDEL1 binding to the dynein regulator LIS1. This study identifies the first lissencephaly-associated NDEL1 variant and sheds light on the distinct roles of NDE1 and NDEL1 in nucleokinesis and MCD pathogenesis.


Assuntos
Lisencefalia , Humanos , Lisencefalia/genética , Movimento Celular/genética , Proliferação de Células , Córtex Cerebral , Dineínas/genética , Proteínas de Transporte , Proteínas Associadas aos Microtúbulos/genética
17.
NPJ Parkinsons Dis ; 10(1): 23, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38233432

RESUMO

Inconsistent findings exist regarding the potential association between polluted air and Parkinson's disease (PD), with unclear insights into the role of inherited sensitivity. This study sought to explore the potential link between various air pollutants and PD risk, investigating whether genetic susceptibility modulates these associations. The population-based study involved 312,009 initially PD-free participants with complete genotyping data. Annual mean concentrations of PM2.5, PM10, NO2, and NOx were estimated, and a polygenic risk score (PRS) was computed to assess individual genetic risks for PD. Cox proportional risk models were employed to calculate hazard ratios (HR) and 95% confidence intervals (CI) for the associations between ambient air pollutants, genetic risk, and incident PD. Over a median 12.07-year follow-up, 2356 PD cases (0.76%) were observed. Compared to the lowest quartile of air pollution, the highest quartiles of NO2 and PM10 pollution showed HRs and 95% CIs of 1.247 (1.089-1.427) and 1.201 (1.052-1.373) for PD incidence, respectively. Each 10 µg/m3 increase in NO2 and PM10 yielded elevated HRs and 95% CIs for PD of 1.089 (1.026-1.155) and 1.363 (1.043-1.782), respectively. Individuals with significant genetic and PM10 exposure risks had the highest PD development risk (HR: 2.748, 95% CI: 2.145-3.520). Similarly, those with substantial genetic and NO2 exposure risks were over twice as likely to develop PD compared to minimal-risk counterparts (HR: 2.414, 95% CI: 1.912-3.048). Findings suggest that exposure to air contaminants heightens PD risk, particularly in individuals genetically predisposed to high susceptibility.

18.
International Eye Science ; (12): 158-161, 2024.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-1003527

RESUMO

AIM: To compare the binocular and monocular accommodation among normal group, premyopia group and mild myopia group, and to study the characteristics of accommodation in the premyopia group, thus providing clinical evidence for the delay/prevention of myopia and the effective decrease of the incidence of myopia.METHODS: Cross-sectional descriptive study. A total of 179 children who had abnormal/high-risk visual acuity indicated by the vision screening in school from October 2021 to February 2023 were selected, including 92 males and 87 females, aged from 6 to 12(mean 8.55±1.66)years old, then they were referred to the Juvenile Myopia Prevention and Control Center in Cuizu Community Health Service Center. They were divided into normal group(+0.75 D&#x0026;#x003C;SE≤+2.00 D), the premyopia group(-0.50 D&#x0026;#x003C;SE≤+0.75 D)and the mild myopia group(-3.00 D≤SE≤-0.50 D)according to the diopters after cycloplegia, and binocular myopia grouping is defined by the eye with lower diopter. Binocular positive relative accommodation(PRA), negative relative accommodation(NRA), accommodative facility(AF), and monocular AF and amplitude of accommodation(AA)were examined. The age, binocular and monocular accommodation of different groups were compared.RESULTS: There were no difference in the sex ratio of different groups(χ2=0.167, P=0.920). There was no difference in age between the normal group and the premyopia group(P=0.310), but there were differences between the mild myopia group and the normal group and premyopia group(P=0.018, &#x0026;#x003C;0.01); Binocular NRA, PRA, and AF had significance between the normal group and the premyopia group(P&#x0026;#x003C;0.01), while there was no significance between the premyopia group and the mild myopia(P&#x0026;#x003E;0.05). Monocular AF had significance between the normal group and the premyopia group(P&#x0026;#x003C;0.01), while there was no significance between the premyopia group and the mild myopia group(P&#x0026;#x003E;0.05); The monocular AA had significance among the three groups(P&#x0026;#x003C;0.05).CONCLUSION: Although the diopters was normal, binocular NRA, PRA, monocular and binocular AF had significantly decreased in the premyopia group, and there was no significant difference compared with mild myopia group; monocular AA had decreased in the premyopia group and it was also significantly different from the mild myopia group. The accommodation function should be examined in premyopic children. Recovering the abnormal visual function through visual training may be a way to prevent and control premyopia from progressing to myopia.

19.
Nano Lett ; 24(1): 67-73, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38149785

RESUMO

Two-dimensional transition metal nitrides offer intriguing possibilities for achieving novel electronic and mechanical functionality owing to their distinctive and tunable bonding characteristics compared to other 2D materials. We demonstrate here the enabling effects of strong bonding on the morphology and functionality of 2D tungsten nitrides. The employed bottom-up synthesis experienced a unique substrate stabilization effect beyond van-der-Waals epitaxy that favored W5N6 over lower metal nitrides. Comprehensive structural and electronic characterization reveals that monolayer W5N6 can be synthesized at large scale and shows semimetallic behavior with an intriguing indirect band structure. Moreover, the material exhibits exceptional resilience against mechanical damage and chemical reactions. Leveraging these electronic properties and robustness, we demonstrate the application of W5N6 as atomic-scale dry etch stops that allow the integration of high-performance 2D materials contacts. These findings highlight the potential of 2D transition metal nitrides for realizing advanced electronic devices and functional interfaces.

20.
Artigo em Inglês | MEDLINE | ID: mdl-38082656

RESUMO

Assessment of patient eligibility is an essential process in the clinical trial but there are a lot of manual processes involved. Natural Language Processing (NLP) is a promising technique to automate analysing of the massive volume of Electronic Medical Records (EMRs) hence it can assist in the assessment of patient eligibility, especially in clinical trials that require complex inclusion/exclusion criteria. In this paper, we proposed a hybrid model which utilized both rule-based and NLP technologies to automate the assessment of patient eligibility. The result showed that the hybrid model had a better trade-off between sensitivity and precision compared to the rule-based model and NLP similarity model. Moreover, the accuracy of the hybrid model was validated on the larger dataset and it reached an accuracy of 87.3%. Therefore, this technique potentially can improve the efficiency of patient recruitment by eliminating the manual processes that involve in the assessment of patient eligibility.


Assuntos
Registros Eletrônicos de Saúde , Processamento de Linguagem Natural , Humanos , Tecnologia
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