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1.
J R Soc Interface ; 21(213): 20230492, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38626806

ABSTRACT

We use data produced by industrial wood grading machines to train a machine learning model for predicting strength-related properties of wood lamellae from colour images of their surfaces. The focus was on samples of Norway spruce (Picea abies) wood, which display visible fibre pattern formations on their surfaces. We used a pre-trained machine learning model based on the residual network ResNet50 that we trained with over 15 000 high-definition images labelled with the indicating properties measured by the grading machine. With the help of augmentation techniques, we were able to achieve a coefficient of determination (R2) value of just over 0.9. Considering the ever-increasing demand for construction-grade wood, we argue that computer vision should be considered a viable option for the automatic sorting and grading of wood lamellae in the future.


Subject(s)
Picea , Wood
2.
J Ethnopharmacol ; 330: 118226, 2024 Aug 10.
Article in English | MEDLINE | ID: mdl-38670401

ABSTRACT

ETHNOPHARMACOLOGICAL RELEVANCE: Idiopathic pulmonary fibrosis (IPF) is a progressive fibrosing pulmonary disorder that has a poor prognosis and high mortality. Although there has been extensive effort to introduce several new anti-fibrotic agents in the past decade, IPF remains an incurable disease. Mimosa pudica L., an indigenous Vietnamese plant, has been empirically used to treat respiratory disorders. Nevertheless, the therapeutic effects of M. pudica (MP) on lung fibrosis and the mechanisms underlying those effects remain unclear. AIM OF THE STUDY: This study investigated the protective effect of a crude ethanol extract of the above-ground parts of MP against pulmonary fibrogenesis. MATERIALS AND METHODS: Inflammatory responses triggered by TNFα in structural lung cells were examined in normal human lung fibroblasts and A549 alveolar epithelial cells using Western blot analysis, reverse transcription-quantitative polymerase chain reaction assays, and immunocytochemistry. The epithelial-to-mesenchymal transition (EMT) was examined via cell morphology observations, F-actin fluorescent staining, gene and protein expression measurements, and a wound-healing assay. Anti-fibrotic assays including collagen release, differentiation, and measurements of fibrosis-related gene and protein expression levels were performed on TGFß-stimulated human lung fibroblasts and lung fibroblasts derived from mice with fibrotic lungs. Finally, in vitro anti-fibrotic activities were validated using a mouse model of bleomycin-induced pulmonary fibrosis. RESULTS: MP alleviated the inflammatory responses of A549 alveolar epithelial cells and lung fibroblasts, as revealed by inhibition of TNFα-induced chemotactic cytokine and chemokine expression, along with inactivation of the MAPK and NFκB signalling pathways. MP also partially reversed the TGFß-promoted EMT via downregulation of mesenchymal markers in A549 cells. Importantly, MP decreased the expression levels of fibrosis-related genes/proteins including collagen I, fibronectin, and αSMA; moreover, it suppressed collagen secretion and prevented myofibroblast differentiation in lung fibroblasts. These effects were mediated by FOXO3 stabilization through suppression of TGFß-induced ERK1/2 phosphorylation. MP consistently protected mice from the onset and progression of bleomycin-induced pulmonary fibrosis. CONCLUSION: This study explored the multifaceted roles of MP in counteracting the pathobiological processes of lung fibrosis. The results suggest that further evaluation of MP could yield candidate therapies for IPF.


Subject(s)
Epithelial-Mesenchymal Transition , Forkhead Box Protein O3 , MAP Kinase Signaling System , Mice, Inbred C57BL , Plant Extracts , Pulmonary Fibrosis , Animals , Humans , Plant Extracts/pharmacology , Plant Extracts/therapeutic use , A549 Cells , Mice , MAP Kinase Signaling System/drug effects , Epithelial-Mesenchymal Transition/drug effects , Pulmonary Fibrosis/drug therapy , Pulmonary Fibrosis/chemically induced , Forkhead Box Protein O3/metabolism , Fibroblasts/drug effects , Fibroblasts/metabolism , Male , Bleomycin , Antifibrotic Agents/pharmacology , Lung/drug effects , Lung/pathology , Lung/metabolism , Idiopathic Pulmonary Fibrosis/drug therapy , Idiopathic Pulmonary Fibrosis/chemically induced , Idiopathic Pulmonary Fibrosis/pathology
3.
ACS Nano ; 18(12): 8768-8776, 2024 Mar 26.
Article in English | MEDLINE | ID: mdl-38488038

ABSTRACT

In this work, we demonstrate the formation and electronic influence of lateral heterointerfaces in FeSn containing Kagome and honeycomb layers. Lateral heterostructures offer spatially resolved property control, enabling the integration of dissimilar materials and promoting phenomena not typically observed in vertical heterostructures. Using the molecular beam epitaxy technique, we achieve a controllable synthesis of lateral heterostructures in the Kagome metal FeSn. With scanning tunneling microscopy/spectroscopy in conjunction with first-principles calculations, we provide a comprehensive understanding of the bonding motif connecting the Fe3Sn-terminated Kagome and Sn2-terminated honeycomb surfaces. More importantly, we reveal a distance-dependent evolution of the electronic states in the vicinity of the heterointerfaces. This evolution is significantly influenced by the orbital character of the flat bands. Our findings suggest an approach to modulate the electronic properties of the Kagome lattice, which should be beneficial for the development of future quantum devices.

4.
Stem Cell Res ; 76: 103331, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38341988

ABSTRACT

We generated a human induced pluripotent stem cell (hiPSC) line from erythroid progenitor cells (EPCs) of a 20-year-old female healthy donor using Sendai virus vector encoding Yamanaka factors OCT3/4, SOX2, c-MYC, and KLF4. The established hiPSCs showed a standard morphology and expression of typical undifferentiated stem cell markers, a normal karyotype (46, XX), and demonstrated potential for differentiation in vitro. Furthermore, they were successfully differentiated into cardiomyocytes that expressed cardiomyocyte-specific markers. The iPSC line and iPSC-derived cardiomyocytes will provide new avenues for future drug testing/development and personalized cell therapy for cardiovascular diseases (CVDs).


Subject(s)
Cardiovascular Diseases , Induced Pluripotent Stem Cells , Female , Humans , Young Adult , Cell Differentiation , Cellular Reprogramming , Erythroid Precursor Cells , Induced Pluripotent Stem Cells/metabolism , Kruppel-Like Factor 4
5.
Cancer Epidemiol Biomarkers Prev ; 33(4): 525-533, 2024 Apr 03.
Article in English | MEDLINE | ID: mdl-38319289

ABSTRACT

BACKGROUND: Mailed fecal immunochemical test (FIT) outreach can improve colorectal cancer screening participation. We assessed the reach and effectiveness of adding notifications to mailed FIT programs. METHODS: We conducted secondary analyses of a stepped-wedge evaluation of an enhanced mailed FIT program (n = 15 clinics). Patients were stratified by prior FIT completion. Those with prior FIT were sent a text message (Group 1); those without were randomized 1:1 to receive a text message (Group 2) or live phone call (Group 3). All groups were sent automated phone call reminders. In stratified analysis, we measured reach and effectiveness (FIT completion within 6 months) and assessed patient-level associations using generalized estimating equations. RESULTS: Patients (n = 16,934; 83% Latino; 72% completed prior FIT) were reached most often by text messages (78%), followed by live phone calls (71%), then automated phone calls (56%). FIT completion was higher in patients with prior FIT completion versus without [44% (Group 1) vs. 19% (Group 2 + Group 3); P < 0.01]. For patients without prior FIT, effectiveness was higher in those allocated to a live phone call [20% (Group 3) vs. 18% (Group 2) for text message; P = 0.04] and in those who personally answered the live call (28% vs. 9% no call completed; P < 0.01). CONCLUSIONS: Text messages reached the most patients, yet effectiveness was highest in those who personally answered the live phone call. IMPACT: Despite the broad reach and low cost of text messages, personalized approaches may more successfully boost FIT completion.


Subject(s)
Colorectal Neoplasms , Text Messaging , Humans , Early Detection of Cancer , Reminder Systems , Mass Screening , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/prevention & control , Occult Blood
6.
bioRxiv ; 2024 Feb 17.
Article in English | MEDLINE | ID: mdl-38405742

ABSTRACT

Much of the complexity and diversity found in nature are driven by nonlinear phenomena, and this holds true for the brain. Nonlinear dynamics theory has been successfully utilized in explaining brain functions from a biophysics standpoint, and the field of statistical physics continues to make substantial progress in understanding brain connectivity and function. This study delves into complex brain functional connectivity using biophysical nonlinear dynamics approaches. We aim to uncover hidden information in high-dimensional and nonlinear neural signals, with the hope of providing a useful tool for analyzing information transitions in functionally complex networks. By utilizing phase portraits and fuzzy recurrence plots, we investigated the latent information in the functional connectivity of complex brain networks. Our numerical experiments, which include synthetic linear dynamics neural time series and a biophysically realistic neural mass model, showed that phase portraits and fuzzy recurrence plots are highly sensitive to changes in neural dynamics, and they can also be used to predict functional connectivity based on structural connectivity. Furthermore, the results showed that phase trajectories of neuronal activity encode low-dimensional dynamics, and the geometric properties of the limit-cycle attractor formed by the phase portraits can be used to explain the neurodynamics. Additionally, our results showed that the phase portrait and fuzzy recurrence plots can be used as functional connectivity descriptors, and both metrics were able to capture and explain nonlinear dynamics behavior during specific cognitive tasks. In conclusion, our findings suggest that phase portraits and fuzzy recurrence plots could be highly effective as functional connectivity descriptors, providing valuable insights into nonlinear dynamics in the brain.

7.
Comput Biol Med ; 170: 107976, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38219647

ABSTRACT

BACKGROUND: Pathological speech diagnosis is crucial for identifying and treating various speech disorders. Accurate diagnosis aids in developing targeted intervention strategies, improving patients' communication abilities, and enhancing their overall quality of life. With the rising incidence of speech-related conditions globally, including oral health, the need for efficient and reliable diagnostic tools has become paramount, emphasizing the significance of advanced research in this field. METHODS: This paper introduces novel features for deep learning in the analysis of short voice signals. It proposes the incorporation of time-space and time-frequency features to accurately discern between two distinct groups: Individuals exhibiting normal vocal patterns and those manifesting pathological voice conditions. These advancements aim to enhance the precision and reliability of diagnostic procedures, paving the way for more targeted treatment approaches. RESULTS: Utilizing a publicly available voice database, this study carried out training and validation using long short-term memory (LSTM) networks learning on the combined features, along with a data balancing strategy. The proposed approach yielded promising performance metrics: 90% accuracy, 93% sensitivity, 87% specificity, 88% precision, an F1 score of 0.90, and an area under the receiver operating characteristic curve of 0.96. The results surpassed those obtained by the networks trained using wavelet-time scattering coefficients, as well as several algorithms trained with alternative feature types. CONCLUSIONS: The incorporation of time-frequency and time-space features extracted from short segments of voice signals for LSTM learning demonstrates significant promise as an AI tool for the diagnosis of speech pathology. The proposed approach has the potential to enhance the accuracy and allow for real-time pathological speech assessment, thereby facilitating more targeted and effective therapeutic interventions.


Subject(s)
Speech-Language Pathology , Speech , Humans , Reproducibility of Results , Memory, Short-Term , Quality of Life , Speech Disorders
8.
R Soc Open Sci ; 11(1): 231166, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38234434

ABSTRACT

The mandible or lower jaw is the largest and hardest bone in the human facial skeleton. Fractures of the mandible are reported to be a common facial trauma in emergency medicine and gaining insights into mandibular morphology in different facial types can be helpful for trauma treatment. Furthermore, features of the mandible play an important role in forensics and anthropology for identifying gender and individuals. Thus, discovering hidden information of the mandible can benefit interdisciplinary research. Here, for the first time, a method of artificial intelligence-based nonlinear dynamics and network analysis are used for discovering dissimilar and similar radiographic features of mandibles between male and female subjects. Using a public dataset of 10 computed tomography scans of mandibles, the results suggest a difference in the distribution of spatial autocorrelation between genders, uniqueness in network topologies among individuals and shared values in recurrence quantification.

9.
Mol Biotechnol ; 2024 Jan 10.
Article in English | MEDLINE | ID: mdl-38198050

ABSTRACT

Chitin, the second most abundant biomolecule after cellulose in nature, is a significant aquaculture by-product, and is estimated at 6-8 million tons annually. Chitin is composed of monomeric N-acetylglucosamine (NAG) which can be seen as an alternative feedstock for biotechnology. Microbial functional lipids have gained attention due to their bioactivity and sustainable production. In this study, a new oleaginous yeast strain named Sakaguchia sp. HKC2 was found to be able to use NAG as the carbon source for growth and accumulate functional lipids such as PUFAs and carotenoids. When cultured on the NAG-containing medium, strain HKC2 exhibited slower growth and slower intracellular lipid accumulation compared to those on a glucose-containing medium. However, the lipids obtained from HKC2 grown on NAG medium were richer in PUFAs. Notably, torularhodin-a powerful bioactive carotenoid-was found in all HKC2 cultures on NAG, while torulene was abundant in glucose medium. These findings highlight a novel avenue for utilizing aquatic by-products and unlocking their potential.

10.
ArXiv ; 2024 Jan 22.
Article in English | MEDLINE | ID: mdl-37873012

ABSTRACT

Neuroscience research has evolved to generate increasingly large and complex experimental data sets, and advanced data science tools are taking on central roles in neuroscience research. Neurodata Without Borders (NWB), a standard language for neurophysiology data, has recently emerged as a powerful solution for data management, analysis, and sharing. We here discuss our labs' efforts to implement NWB data science pipelines. We describe general principles and specific use cases that illustrate successes, challenges, and non-trivial decisions in software engineering. We hope that our experience can provide guidance for the neuroscience community and help bridge the gap between experimental neuroscience and data science.

11.
BMJ Case Rep ; 16(12)2023 Dec 09.
Article in English | MEDLINE | ID: mdl-38087480

ABSTRACT

A healthy man in his 50s was hospitalised after presenting with chest pain and dyspnoea. An echocardiogram revealed asymmetrical septal hypertrophy, leading to a diagnosis of hypertrophic cardiomyopathy. Due to progressive conduction abnormalities during his hospitalisation, further evaluation was performed. Cardiac MRI revealed dense late gadolinium enhancement of the septum in the area of hypertrophy. Additionally, fluorodeoxyglucose-positron emission tomography demonstrated increased uptake within the same region, suggestive of active inflammation. Subsequent endomyocardial biopsy showed non-caseating granulomatous inflammation, consistent with cardiac sarcoidosis. Treatment with prednisone and methotrexate was initiated, and an implantable cardioverter-defibrillator was placed following thorough risk stratification. This case highlights the importance of multimodality imaging and the pursuit of a tissue diagnosis in the evaluation of cardiomyopathy.


Subject(s)
Cardiomyopathy, Hypertrophic , Myocarditis , Sarcoidosis , Humans , Male , Cardiomyopathy, Hypertrophic/diagnostic imaging , Contrast Media , Gadolinium , Hypertrophy , Inflammation , Sarcoidosis/pathology , Middle Aged
12.
Front Nutr ; 10: 1251601, 2023.
Article in English | MEDLINE | ID: mdl-38099185

ABSTRACT

Background: Insufficient data exists regarding the relationship between body mass index (BMI) and the prognosis of chronic heart failure (CHF) specifically within low- and middle-income Asian countries. The objective of this study was to evaluate the impact of BMI on adverse outcomes of ambulatory patients with CHF in Vietnam. Methods: Between 2018 and 2020, we prospectively enrolled consecutive outpatients with clinically stable CHF in an observational cohort, single-center study. The participants were stratified according to Asian-specific BMI thresholds. The relationships between BMI and adverse outcomes (all-cause death and all-cause hospitalization) were analyzed by Kaplan-Meier survival curves and Cox proportional-hazards model. Results: Among 320 participants (age 63.5 ± 13.3 years, 57.9% male), the median BMI was 21.4 kg/m2 (IQR 19.5-23.6), and 10.9% were underweight (BMI <18.50 kg/m2). Over a median follow-up time of 32 months, the cumulative incidence of all-cause mortality and hospitalization were 5.6% and 19.1%, respectively. After multivariable adjustment, underweight patients had a significantly higher risk of all-cause mortality than patients with normal BMI (adjusted hazard ratios = 3.03 [95% CI: 1.07-8.55]). Lower BMI remained significantly associated with a worse prognosis when analyzed as a continuous variable (adjusted hazard ratios = 1.27 [95% CI: 1.03-1.55] per 1 kg/m2 decrease for all-cause mortality). However, BMI was not found to be significantly associated with the risk of all-cause hospitalization (p > 0.05). Conclusion: In ambulatory patients with CHF in Vietnam, lower BMI, especially underweight status (BMI < 18.5 kg/m2), was associated with a higher risk of all-cause mortality. These findings suggest that BMI should be considered for use in risk classification, and underweight patients should be managed by a team consisting of cardiologists, nutritionists, and geriatricians.

13.
Cancer Med ; 12(23): 21502-21518, 2023 12.
Article in English | MEDLINE | ID: mdl-38014709

ABSTRACT

BACKGROUND: Cancer biomarkers play a pivotal role in the diagnosis, prognosis, and treatment response prediction of the disease. In this study, we analyzed the expression levels of RhoB and DNp73 proteins in rectal cancer, as captured in immunohistochemical images, to predict the 5-year survival time of two patient groups: one with preoperative radiotherapy and one without. METHODS: The utilization of deep convolutional neural networks in medical research, particularly in clinical cancer studies, has been gaining substantial attention. This success primarily stems from their ability to extract intricate image features that prove invaluable in machine learning. Another innovative method for extracting features at multiple levels is the wavelet-scattering network. Our study combines the strengths of these two convolution-based approaches to robustly extract image features related to protein expression. RESULTS: The efficacy of our approach was evaluated across various tissue types, including tumor, biopsy, metastasis, and adjacent normal tissue. Statistical assessments demonstrated exceptional performance across a range of metrics, including prediction accuracy, classification accuracy, precision, and the area under the receiver operating characteristic curve. CONCLUSION: These results underscore the potential of dual convolutional learning to assist clinical researchers in the timely validation and discovery of cancer biomarkers.


Subject(s)
Deep Learning , Rectal Neoplasms , Humans , Sweden , Neural Networks, Computer , Rectal Neoplasms/diagnosis , Rectal Neoplasms/therapy , Rectal Neoplasms/pathology , Biomarkers, Tumor
14.
Sci Rep ; 13(1): 17160, 2023 10 11.
Article in English | MEDLINE | ID: mdl-37821491

ABSTRACT

We use a comprehensive longitudinal dataset on criminal acts over 6 years in a European country to study specialization in criminal careers. We present a method to cluster crime categories by their relative co-occurrence within criminal careers, deriving a natural, data-based taxonomy of criminal specialization. Defining specialists as active criminals who stay within one category of offending behavior, we study their socio-demographic attributes, geographic range, and positions in their collaboration networks relative to their generalist counterparts. Compared to generalists, specialists tend to be older, are more likely to be women, operate within a smaller geographic range, and collaborate in smaller, more tightly-knit local networks. We observe that specialists are more intensely embedded in criminal networks, suggesting a potential source of self-reinforcing dynamics in criminal careers.


Subject(s)
Criminals , Humans , Female , Male , Crime , Criminal Behavior , Specialization , Europe
15.
Viruses ; 15(9)2023 09 08.
Article in English | MEDLINE | ID: mdl-37766303

ABSTRACT

Bats are a major reservoir of zoonotic viruses, including coronaviruses. Since the emergence of SARS-CoV in 2002/2003 in Asia, important efforts have been made to describe the diversity of Coronaviridae circulating in bats worldwide, leading to the discovery of the precursors of epidemic and pandemic sarbecoviruses in horseshoe bats. We investigated the viral communities infecting horseshoe bats living in Northern Vietnam, and report here the first identification of sarbecoviruses in Rhinolophus thomasi and Rhinolophus siamensis bats. Phylogenetic characterization of seven strains of Vietnamese sarbecoviruses identified at least three clusters of viruses. Recombination and cross-species transmission between bats seemed to constitute major drivers of virus evolution. Vietnamese sarbecoviruses were mainly enteric, therefore constituting a risk of spillover for guano collectors or people visiting caves. To evaluate the zoonotic potential of these viruses, we analyzed in silico and in vitro the ability of their RBDs to bind to mammalian ACE2s and concluded that these viruses are likely restricted to their bat hosts. The workflow applied here to characterize the spillover potential of novel sarbecoviruses is of major interest for each time a new virus is discovered, in order to concentrate surveillance efforts on high-risk interfaces.


Subject(s)
Chiroptera , Coronavirus Infections , Coronavirus , Severe acute respiratory syndrome-related coronavirus , Humans , Animals , Coronavirus/genetics , Vietnam/epidemiology , Phylogeny , Genotype , Phenotype , Coronavirus Infections/epidemiology , Coronavirus Infections/veterinary , Pandemics
16.
Appl Opt ; 62(18): 4921-4927, 2023 Jun 20.
Article in English | MEDLINE | ID: mdl-37707269

ABSTRACT

A new digital coherent holographic system that works as a spatial-frequency shifter for measuring three-dimensional (3D) vibration of an object is proposed. The spatial-frequency shifter is constructed by a system of three mirrors inclined with different small angles to shift the object wave to three different frequencies in the spatial-frequency domain. By applying the Fourier transform method and appropriate filters to the hologram recorded by the camera of the system, a three-phase set of object waves corresponding to three shifted frequencies was obtained. From the relation between the phases and the relative position of the object, the position of each point on the surface of the object along the x, y, and z directions was extracted from each hologram. The same process was repeatedly applied to a series of holograms recorded by a fast camera, allowing the 3D vibration of the object to be precisely observed.

17.
Article in English | MEDLINE | ID: mdl-37699599

ABSTRACT

Studies of anger treatment have often reported on reappraisal and relaxation techniques delivered in person to forensic and psychiatric samples. The present study evaluated an integrative programme of cognitive-behavioural affective therapy (CBAT) delivered remotely to chronic pain sufferers with comorbid anger. Volunteers (N = 54) were randomly assigned to either CBAT or an Emotional Education (EE) group, both receiving hour-long videorecorded sessions twice a week for 4 weeks plus weekly calls by telephone. At 1-month post-treatment, follow-up was conducted. Outcomes were measured using the Anger Parameters Scale (APS) and its five subscales (frequency, duration, intensity, latency and threshold) as well as daily self-monitored anger logs. As hypothesized, pre- to post-treatment decline in APS total scores was significant for CBAT, Hedges' g = 0.65, 95% CI [0.14, 1.16] but nonsignificant and small for EE, g = 0.17, CI [-0.41, 0.75]. At the primary endpoint (post-treatment), APS total scores were significantly lower for CBAT than for EE. Treatment gains were maintained till follow-up. On all five APS subscales, pre-post effect sizes were medium-sized for CBAT and generally small for EE. This picture was mirrored in the self-monitored frequency, duration and intensity of anger. Findings support the efficacy of CBAT over time, its comparative efficacy over EE and its ecological generalizability. Future research could expand sample size, reduce sample imbalance, extend follow-up and strengthen treatment potency with more sessions. The present study renews enthusiasm for teletherapy and is the first to demonstrate CBAT efficacy in treating maladaptive anger in the chronic pain population.

18.
ACS Synth Biol ; 12(9): 2750-2763, 2023 09 15.
Article in English | MEDLINE | ID: mdl-37671922

ABSTRACT

We show that in silico design of DNA secondary structures is improved by extending the base pairing alphabet beyond A-T and G-C to include the pair between 2-amino-8-(1'-ß-d-2'-deoxyribofuranosyl)-imidazo-[1,2-a]-1,3,5-triazin-(8H)-4-one and 6-amino-3-(1'-ß-d-2'-deoxyribofuranosyl)-5-nitro-(1H)-pyridin-2-one, abbreviated as P and Z. To obtain the thermodynamic parameters needed to include P-Z pairs in the designs, we performed 47 optical melting experiments and combined the results with previous work to fit free energy and enthalpy nearest neighbor folding parameters for P-Z pairs and G-Z wobble pairs. We find G-Z pairs have stability comparable to that of A-T pairs and should therefore be included as base pairs in structure prediction and design algorithms. Additionally, we extrapolated the set of loop, terminal mismatch, and dangling end parameters to include the P and Z nucleotides. These parameters were incorporated into the RNAstructure software package for secondary structure prediction and analysis. Using the RNAstructure Design program, we solved 99 of the 100 design problems posed by Eterna using the ACGT alphabet or supplementing it with P-Z pairs. Extending the alphabet reduced the propensity of sequences to fold into off-target structures, as evaluated by the normalized ensemble defect (NED). The NED values were improved relative to those from the Eterna example solutions in 91 of 99 cases in which Eterna-player solutions were provided. P-Z-containing designs had average NED values of 0.040, significantly below the 0.074 of standard-DNA-only designs, and inclusion of the P-Z pairs decreased the time needed to converge on a design. This work provides a sample pipeline for inclusion of any expanded alphabet nucleotides into prediction and design workflows.


Subject(s)
Algorithms , DNA , Base Pairing , Thermodynamics , Nucleotides
19.
Mol Genet Genomic Med ; 11(11): e2244, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37548407

ABSTRACT

BACKGROUND: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management. METHODS: In this study, both somatic and germline mutations were detected in blood and tumour samples of 42 RB patients using direct sequencing and multiplex ligation-dependent probe amplification. RESULTS: In total, 34 different mutations were found in 36 patients, including 1 SNP, 4 large deletions, 5 splicing sites, 1 missense, 7 frameshifts and 17 nonsense mutations. There were five novel mutations and one unreported which have not been found in large databases such as Leiden Open Variation Database (LOVD) and ClinVar. CONCLUSION: A higher rate of RB patients carrying heterozygous germline mutation and highly prevalent with pathogenic truncated mutation, hence, early detection of RB is essential for vision salvation and genetic counselling.


Subject(s)
Retinal Neoplasms , Retinoblastoma , Child , Humans , Retinoblastoma/genetics , Retinoblastoma/pathology , Vietnam , Mutation , Genetic Testing , Retinal Neoplasms/genetics , Retinal Neoplasms/pathology
20.
Sci Rep ; 13(1): 10859, 2023 07 05.
Article in English | MEDLINE | ID: mdl-37407622

ABSTRACT

Seizures have a significant impact on the quality of life of those who suffer. This study aimed to evaluate the variables that influence the incidence of seizures during the perioperative period and effective measures to enhance epilepsy outcomes among individuals undergoing surgical resection of brain tumors. The authors carried out a prospective observational analysis of all patients who experienced seizures before their brain tumor surgery at UMC, HCMC between 2020 and 2022. 54 cases presented with seizures were enrolled for the study, generalized seizure was the most prevalent seizure type (61.1%), followed by focal seizure (29.6%). The majority of patients presented with seizures are those who were diagnosed with glioma. Low-grade gliomas and frontotemporal lobe tumors increase the postoperative risk of seizure. Other predictive factors are a prolonged history of seizure, especially resistant epilepsy and major peritumoral edema. In contrast, gross total resection reduces postoperative seizure incidence. There was correlation between Ki67 proliferation index and seizure incidence in both low-grade and high-grade gliomas. ECoG made insubstantial difference in enhancing the epilepsy surgery outcome. Overall, 88.9% of patients were seizure-free at 6 months of follow-up (Engel Class I), 7.4% were almost seizure-free (Class II), and 3.7% had significant improvement (Class III), figures for 12-month follow-up were 87.0%, 9.3%, and 3.7% respectively. A shorter history of seizure and gross-total resection appear to be associated with a favorable prognosis for seizure control.


Subject(s)
Brain Neoplasms , Epilepsy , Glioma , Humans , Quality of Life , Vietnam , Tertiary Care Centers , Treatment Outcome , Retrospective Studies , Glioma/pathology , Seizures/etiology , Epilepsy/epidemiology , Epilepsy/surgery , Epilepsy/complications , Brain Neoplasms/pathology
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