Among the most prevalent neurodevelopmental disorders, Autism Spectrum Disorder (ASD) is highly diverse showing a broad phenotypic spectrum. ASD also couples with a broad range of mutations, both de ...novo and inherited. In this study, we used a proprietary SNP genotyping chip to analyze the genomic DNA of 250 Vietnamese children diagnosed with ASD. Our Single Nucleotide Polymorphism (SNP) genotyping chip directly targets more than 800 thousand SNPs in the genome. Our primary focus was to identify pathogenic/likely pathogenic mutations that are potentially linked to more severe symptoms of autism. We identified and validated 23 pathogenic/likely pathogenic mutations in this initial study. The data shows that these mutations were detected in several cases spanning multiple biological pathways. Among the confirmed SNPs, mutations were identified in genes previously known to be strongly associated with ASD such as SLCO1B1, ACADSB, TCF4, HCP5, MOCOS, SRD5A2, MCCC2, DCC, and PRKN while several other mutations are known to associate with autistic traits or other neurodevelopmental disorders. Some mutations were found in multiple patients and some patients carried multiple pathogenic/likely pathogenic mutations. These findings contribute to the identification of potential targets for therapeutic solutions in what is considered a genetically heterogeneous neurodevelopmental disorder.
Multilevel converters have many power devices and drivers. Thus, a direct reliability calculation based only on the first failure occurrence on one of the components clearly leads them to be devalued ...compared to two-level converters. However, taking into account that symmetrical multilevel converters such as the X -level active neutral point clamped (ANPC) family are based on imbricated and/or stacked switching cells on the one hand, with an additional center tap at the dc bus in three-phase operation on the other hand, several redundancies clearly appear which can be managed to increase the global reliability. For the first time, a general and theoretical methodology used to calculate reliability laws and failure rates and applied to compare two-, three-, and five-level topologies is proposed. Results show that the fault handling of three- and five-level three-phase topologies permits a great increase in reliability over a "relatively" short time duration, in addition to other benefits.
Summary
Patients with type 2 diabetes have an increased risk of fracture despite having a higher areal bone mineral density. This meta-analysis showed that compared with controls, diabetic patients ...had a lower trabecular bone score (TBS) than non-diabetic individuals, suggesting that TBS can be a useful measurement for the assessment of fracture risk in diabetic patients.
Introduction
The association between type 2 diabetes and trabecular bone score (TBS) has not been clear. The present study sought to answer the specific question of whether patients with type 2 diabetes have a lower TBS than those without diabetes.
Methods
Using electronic and manual search, we identified 12 studies that had examined the association between type 2 diabetes and TBS between 2013 and 2019. These studies involved 35,546 women and 4962 men aged 30 years and older. We extracted the mean and standard deviation of TBS for patients with and without diabetes. The synthesis of effect sizes was done by the random effects meta-analysis model.
Results
Patients with diabetes had significantly lower TBS than those without diabetes, with standardized mean difference being − 0.31 (95% CI, − 0.45 to − 0.16). The difference was greater in women (− 0.50; 95% CI, − 0.69 to − 0.32) than in men (− 0.04; 95% CI, − 0.17 to 0.10). Compared with normal individuals, those with prediabetes had significantly lower TBS (
d
= − 0.13; 95% CI, − 0.23 to − 0.04;
P
= 0.005). There was heterogeneity between the studies, with the index of inconsistency (
I
2
) ranging from 92% (in women) to 69.5% (in men).
Conclusion
Patients with type 2 diabetes have a lower TBS than non-diabetic individuals, suggesting that TBS can be a useful measurement for the assessment of fracture risk in diabetic patients.
Stem cell-based therapy for human diseases Hoang, Duc M.; Pham, Phuong T.; Bach, Trung Q. ...
Signal transduction and targeted therapy,
08/2022, Letnik:
7, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Abstract
Recent advancements in stem cell technology open a new door for patients suffering from diseases and disorders that have yet to be treated. Stem cell-based therapy, including human ...pluripotent stem cells (hPSCs) and multipotent mesenchymal stem cells (MSCs), has recently emerged as a key player in regenerative medicine. hPSCs are defined as self-renewable cell types conferring the ability to differentiate into various cellular phenotypes of the human body, including three germ layers. MSCs are multipotent progenitor cells possessing self-renewal ability (limited in vitro) and differentiation potential into mesenchymal lineages, according to the International Society for Cell and Gene Therapy (ISCT). This review provides an update on recent clinical applications using either hPSCs or MSCs derived from bone marrow (BM), adipose tissue (AT), or the umbilical cord (UC) for the treatment of human diseases, including neurological disorders, pulmonary dysfunctions, metabolic/endocrine-related diseases, reproductive disorders, skin burns, and cardiovascular conditions. Moreover, we discuss our own clinical trial experiences on targeted therapies using MSCs in a clinical setting, and we propose and discuss the MSC tissue origin concept and how MSC origin may contribute to the role of MSCs in downstream applications, with the ultimate objective of facilitating translational research in regenerative medicine into clinical applications. The mechanisms discussed here support the proposed hypothesis that BM-MSCs are potentially good candidates for brain and spinal cord injury treatment, AT-MSCs are potentially good candidates for reproductive disorder treatment and skin regeneration, and UC-MSCs are potentially good candidates for pulmonary disease and acute respiratory distress syndrome treatment.
AbstractConstruction projects are capital-intensive and risk-prone, which can lead to serious claims and disputes. Thus, early identification and intervention of potential risks in contracts play ...significant roles in preventing conflicts in advance. However, traditional approaches are mostly limited to the simple task of predicting fragmentary information (e.g., a type of risk) from contracts. This study aims to predict comprehensive information to determine risk-handling actions by simultaneously performing three classification tasks (i.e., risk identification, risk allocation, and risk response). Specifically, the proposed multitask model is designed to integrate shared layers extracting general features for all three tasks with task-specific layers extracting relevant features of each individual task. Thus, this approach allows learning both common and specific features within a single network. For performance evaluation, experiments were performed on a data set of 2,586 contractual clauses from 10 construction projects, in which performance was compared with single-task models not only on the entire data set but also on the smaller number of data. The results revealed that the proposed model exhibited higher performance (mean weighted F1 score of 0.90 and accuracy of 0.78) than single-task models; furthermore, shared layers may better recognize hidden patterns for each classification task with the smaller data set (e.g., 0.04 higher mean F1 score and 0.09 higher accuracy for 250 samples). Thus, the proposed model can successfully implement three tasks simultaneously. When such information (e.g., risk types, responsible parties, and corresponding response strategies) is available in an early contract review, contracting parties shall determine specific risk-handling actions for proactive risk assessment and management in construction contracts.
Inter-rater agreement in the interpretation of chest X-ray (CXR) films is crucial for clinical and epidemiological studies of tuberculosis. We compared the readings of CXR films used for a survey of ...tuberculosis between raters from two Asian countries.
Of the 11,624 people enrolled in a prevalence survey in Hanoi, Viet Nam, in 2003, we studied 258 individuals whose CXR films did not exclude the possibility of active tuberculosis. Follow-up films obtained from accessible individuals in 2006 were also analyzed. Two Japanese and two Vietnamese raters read the CXR films based on a coding system proposed by Den Boon et al. and another system newly developed in this study. Inter-rater agreement was evaluated by kappa statistics. Marginal homogeneity was evaluated by the generalized estimating equation (GEE).
CXR findings suspected of tuberculosis differed between the four raters. The frequencies of infiltrates and fibrosis/scarring detected on the films significantly differed between the raters from the two countries (P < 0.0001 and P = 0.0082, respectively, by GEE). The definition of findings such as primary cavity, used in the coding systems also affected the degree of agreement.
CXR findings were inconsistent between the raters with different backgrounds. High inter-rater agreement is a component necessary for an optimal CXR coding system, particularly in international studies. An analysis of reading results and a thorough discussion to achieve a consensus would be necessary to achieve further consistency and high quality of reading.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Microgels are often discussed as well-suited model system for soft colloids. In contrast to rigid spheres, the microgel volume and, coupled to this, the volume fraction in dispersion can be ...manipulated by external stimuli. This behavior is particularly interesting at high packings where phase transitions can be induced by external triggers such as temperature in the case of thermoresponsive microgels. A challenge, however, is the determination of the real volume occupied by these deformable, soft objects and consequently, to determine the boundaries of the phase transitions. Here we propose core-shell microgels with a rigid silica core and a crosslinked, thermoresponsive poly-
N
-isopropylacrylamide (PNIPAM) shell with a carefully chosen shell-to-core size ratio as ideal model colloids to study fluid-solid transitions that are inducible by millikelvin changes in temperature. Specifically, we identify the temperature ranges where crystallization and melting occur using absorbance spectroscopy in a range of concentrations. Slow annealing from the fluid to the crystalline state leads to photonic crystals with Bragg peaks in the visible wavelength range and very narrow linewidths. Small-angle X-ray scattering is then used to confirm the structure of the fluid phase as well as the long-range order, crystal structure and microgel volume fraction in the solid phase. Thanks to the scattering contrasts and volume ratio of the cores with respect to the shells, the scattering data do allow for form factor analysis revealing osmotic deswelling at volume fractions approaching and also exceeding the hard sphere packing limit.
Absorbance spectroscopy and SAXS provide insights into fluid-solid transitions of core-shell microgels in dense packings.
This study presents the removal of phosphate from aqueous solution using a new silver nanoparticles-loaded tea activated carbon (AgNPs-TAC) material. In order to reduce costs, the tea activated ...carbon was produced from tea residue. Batch adsorption experiments were conducted to evaluate the effects of impregnation ratio of AgNPs and TAC, pH solution, contact time, initial phosphate concentration and dose of AgNPs-AC on removing phosphate from aqueous solution. Results show that the best conditions for phosphate adsorption occurred at the impregnation ratio AgNPs/TAC of 3% w/w, pH 3, and contact time lasting 150 min. The maximum adsorption capacity of phosphate on AgNPs-TAC determined by the Langmuir model was 13.62 mg/g at an initial phosphate concentration of 30 mg/L. The adsorption isotherm of phosphate on AgNPs-TAC fits well with both the Langmuir and Sips models. The adsorption kinetics data were also described well by the pseudo-first-order and pseudo-second-order models with high correlation coefficients of 0.978 and 0.966, respectively. The adsorption process was controlled by chemisorption through complexes and ligand exchange mechanisms. This study suggests that AgNPs-TAC is a promising, low cost adsorbent for phosphate removal from aqueous solution.
Durability and long-term performance of concrete exposed to deleterious ions and environmental conditions are major concerns. The rapid chloride permeability (RCP) test is commonly used in ...specifications in the United States to evaluate the permeability of concrete. To evaluate the critical factors that control the service life of structures, the investigation of various concrete mixtures is required. In this paper, the performance of 54 concrete mixtures containing three types of water-reducing admixtures, two types of aggregates, and two levels of cement contents are evaluated in the RCP and freezing-and-thawing tests and the air void structure of selected mixtures are analyzed. It was found that the use of supplementary cementitious materials (SCMs) significantly enhances the performance of concrete mixtures in the RCP test. In addition, mixtures containing up to 30% of Class C fly ash and 50% slag content achieved exceptional durability performance in both RCP and freezing-and-thawing (F-T) tests. The "very-low" RCP values were found for mixtures containing Class F fly ash and polycarboxylate ether (PCE) admixture. Keywords: air void analysis; chemical admixtures; durability; freezing and thawing (F-T); rapid chloride permeability (RCP); supplementary cementitious materials (SCMs).
PDF
