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1.
Int J Mol Sci ; 25(12)2024 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-38928064

RESUMEN

TGA transcription factors belong to Group D of the bZIP transcription factors family and play vital roles in the stress response of plants. Brassica napus is an oil crop with rich economic value. However, a systematic analysis of TGA gene family members in B. napus has not yet been reported. In this study, we identified 39 full-length TGA genes in B. napus, renamed TGA1~TGA39. Thirty-nine BnTGA genes were distributed on 18 chromosomes, mainly located in the nucleus, and differences were observed in their 3D structures. Phylogenetic analysis showed that 39 BnTGA genes could be divided into five groups. The BnTGA genes in the same group had similar structure and motif compositions, and all the BnTGA genes had the same conserved bZIP and DOG1 domains. Phylogenetic and synteny analysis showed that the BnTGA genes had a close genetic relationship with the TGA genes of the Brassica juncea, and BnTGA11 and BnTGA29 may play an important role in evolution. In addition, qRT-PCR revealed that three genes (BnTGA14/17/23) showed significant changes in eight experimental materials after drought treatment. Meanwhile, it can be inferred from the results of drought treatment on different varieties of rapeseed that the stress tolerance of parental rapeseed can be transmitted to the offspring through hybridization. In short, these findings have promoted the understanding of the B. napus TGA gene family and will contribute to future research aimed at B. napus resistant breeding.


Asunto(s)
Factores de Transcripción con Cremalleras de Leucina de Carácter Básico , Brassica napus , Sequías , Regulación de la Expresión Génica de las Plantas , Familia de Multigenes , Filogenia , Proteínas de Plantas , Estrés Fisiológico , Brassica napus/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Estrés Fisiológico/genética , Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/genética , Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/metabolismo , Genoma de Planta , Cromosomas de las Plantas/genética , Perfilación de la Expresión Génica , Sintenía/genética
2.
Adv Exp Med Biol ; 1441: 671-681, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38884741

RESUMEN

Although several genes underlying occurrence of transposition of the great arteries have been found in the mouse, human genetics of the most frequent cyanotic congenital heart defect diagnosed in neonates is still largely unknown. Development of the outflow tract is a complex process which involves the major genes of cardiac development, acting on myocardial cells from the anterior second heart field, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype. A precise description of the anatomic phenotypes is mandatory to achieve a better comprehension of the complex mechanisms responsible for transposition of the great arteries.


Asunto(s)
Transposición de los Grandes Vasos , Humanos , Transposición de los Grandes Vasos/genética , Transposición de los Grandes Vasos/patología , Animales , Fenotipo , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Regulación del Desarrollo de la Expresión Génica
3.
J Clin Med ; 13(11)2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38892838

RESUMEN

Background: Congenitally corrected transposition of the great arteries (cc-TGA) is a defect characterized by arterio-ventricular and atrioventricular disconcordance. Most patients have co-existing cardiac abnormalities that warrant further treatment. Some patients do not require surgical intervention, but most undergo physiological repair or anatomical surgery, which enables them to reach adulthood. Aims: We aimed to evaluate mortality risk factors in patients with cc-TGA. Results: We searched the PubMed database and included 10 retrospective cohort studies with at least a 5-year follow-up time with an end-point of cardiovascular death a minimum of 30 days after surgery. We enrolled 532 patients, and 83 met the end-point of cardiovascular death or equivalent event. As a risk factor for long-term mortality, we identified New York Heart Association (NYHA) class ≥III/heart failure hospitalization (OR = 10.53; 95% CI, 3.17-34.98) and systemic ventricle dysfunction (SVD; OR = 4.95; 95% CI, 2.55-9.64). We did not show history of supraventricular arrhythmia (OR = 2.78; 95% CI, 0.94-8.24), systemic valve regurgitation ≥moderate (SVR; OR = 4.02; 95% Cl, 0.84-19.18), and pacemaker implantation (OR = 1.48; 95% Cl, 0.12-18.82) to affect the long-term survival. In operated patients only, SVD (OR = 4.69; 95% CI, 2.06-10.71) and SVR (OR = 3.85; 95% CI, 1.5-9.85) showed a statistically significant impact on survival. Conclusions: The risk factors for long-term mortality for the entire cc-TGA population are NYHA class ≥III/heart failure hospitalization and systemic ventricle dysfunction. In operated patients, systemic ventricle dysfunction and at least moderate systemic valve regurgitation were found to affect survival.

4.
Molecules ; 29(11)2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38893463

RESUMEN

Diverse methodologies exist to determine the chemical composition, proximate analysis, and calorific value of biomass. Researchers select and apply a specific methodology according to the lignocellulosic material they study and the budgetary resources available. In this project, we determined the primary chemical constitution and proximate analysis of Prosopis laevigata (Humb. & Bonpl.) Jonhst wood using a traditional chemical method and a novel procedure based on the deconvolution of the DTG signal produced by TGA. The highest calorific value was verified using a calorimetric pump based on mathematical models. We also conducted elemental analysis and a microanalysis of ash, and applied Fourier transform infrared spectroscopic analysis (FT-IR). The means of the results obtained by the chemical method and TGA-DTG, respectively, were: hemicelluloses 7.36%-(8.72%), cellulose 48.28%-(46.08%), lignin 30.57%-(32.44%), extractables 13.53%-(12.72%), moisture 2.03%-(4.96%), ash 1.77%-(1.90%), volatile matter 75.16%-(74.14%), and fixed carbon 23.05%-(18.93%). The procedure with the calorimetric pump generated a calorific value above 20.16 MJ/kg. The range generated by the various models was 18.23-21.07 MJ/kg. The results of the elemental analysis were: carbon 46.4%, hydrogen 6.79%, oxygen 46.43%, nitrogen 0.3%, and sulfur 0.5%. The microanalysis of ash identified 18 elements. The most abundant ones were potassium ˃ calcium ˃ sodium. Based on the infrared spectrum (FT-IR) of Prosopis laevigata wood, we detected the following functional groups: OH, C-H, C=O, CH2, CH3, C-O-C, C-OH, and C4-OH. Our conclusion is that the TGA-DTG method made it possible to obtain results in less time with no need for the numerous reagents that chemical procedures require. The calorific value of P. laevigata wood is higher than the standards. Finally, according to our results, proximate analysis provides the best model for calculating calorific value.


Asunto(s)
Lignina , Prosopis , Termogravimetría , Madera , Madera/química , Espectroscopía Infrarroja por Transformada de Fourier/métodos , Prosopis/química , Lignina/química , Lignina/análisis , Biomasa , Celulosa/química , Celulosa/análisis , Polisacáridos
5.
Polymers (Basel) ; 16(11)2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38891424

RESUMEN

Resin matrix composites (RCs) have better thermal and chemical stability, so they are widely used in engineering fields. In this study, the aging process and mechanism of two different types of resin-based three-dimensional four-way braided composites (H15 and S15) under different hygrothermal aging conditions were studied. The effect of aging behavior on the mechanical properties of RCs was also studied. Three different aging conditions were studied: Case I, 40 °C Soak; Case II, 70 °C Soak; and Case III, 70 °C-85% relative humidity (RH). It was found that the hygroscopic behavior of RCs in the process of moisture-heat aging conforms to Fick's second law. Higher temperatures and humidity lead to higher water absorption. The equilibrium hygroscopic content of H15 was 1.46% (Case II), and that of S15 was 2.51% (Case II). FT-IR revealed the different hygroscopic mechanisms of H15 and S15 in terms of aging behavior. On the whole, the infiltration behavior of water molecules is mainly exhibited in the process of wet and thermal aging. At the same time, the effect of the aging process on resin matrices was observed using SEM. It was found that the aging process led to the formation of microchannels on the substrate surface of S15, and the formation of these channels was the main reason for the better moisture absorption and lower mechanical strength of S15. At the same time, this study further found that temperature and oxygen content are the core influences on post-aging strength. The LVI experiment also showed that the structural changes and deterioration effects occurring after aging reduced the strength of the studied material.

6.
Polymers (Basel) ; 16(11)2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38891448

RESUMEN

Several series of new polymers were synthesized in this study: binary copolyesters of vanillic (VA) and 4'-hydroxybiphenyl-4-carboxylic (HBCA) acids, as well as ternary copolyesters additionally containing 4-hydroxybenzoic acid (HBA) and obtained via three different ways (in solution, in melt, and in solid state). The high values of logarithmic intrinsic viscosities and the insolubility of several samples proved their high molecular weights. It was found that the use of vanillic acid leads to the production of copolyesters with a relatively high glass transition temperature (~130 °C). Thermogravimetric analysis revealed that the onset of weight loss temperatures of ternary copolyesters occurred at 330-350 °C, and the temperature of 5% mass loss was in the range of 390-410 °C. Two-stage thermal destruction was observed for all aromatic copolyesters of vanillic acid: decomposition began with VA units at 420-480 °C, and then the decomposition of more heat-resistant units took place above 520 °C. The copolyesters were thermotropic and exhibited a typical nematic type of liquid crystalline order. The mechanical characteristics of the copolyesters were similar to those of semi-aromatic copolyesters, but they were much lower than the typical values for fully aromatic thermotropic polymers. Thus, vanillic acid is a mesogenic monomer suitable for the synthesis of thermotropic fully aromatic and semi-aromatic copolyesters, but the processing temperature must not exceed 280 °C.

7.
Polymers (Basel) ; 16(11)2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38891460

RESUMEN

Worldwide, environmental groups and policymakers are focusing on waste recycling to create economic value and on the decomposition of waste by leveraging on scarce resources. This work, therefore, explores the thermal decomposition of enhanced biodegradable polymer matrices made from a mixture of discarded Phoenix dactylifera L./high-density polyethylene (PD/HDPE) using the machine learning analysis of experimental data. The experimental results of these samples were obtained via thermogravimetric (TGA) analysis under an oxidation-free environment, with heating rates of 10, 20, and 40 °C·min-1 and a degradation temperature range from 25 to 600 °C. The TGA analyses revealed the continued dependence of the actual percentage weight loss by these materials as a test function of the degradation temperature, shifting thermograms to temperature maxima consistent with increasing heating rates. Although high-density polyethylene (HDPE) materials were found to be thermally more stable than Phoenix dactylifera L. (PD) materials, PD/HDPE composite materials contained a significant amount of residual ash. Using a machine learning deep neural network approach for this process, significantly improved learning algorithms have been developed, which reduces the overall cost function (residual error) to almost zero (0.025) after just over a million iterations (epochs) and provides predictions that overlap with the experimental results (R2~1). Learning algorithms, along with optimized synaptic weights and biases, were employed to predict the behaviour of PD materials based on experimental thermograms conducted at higher degradation temperatures, typically ranging between 600 and 1000 °C. Predicted data using the enhanced learning algorithms completely overlapped the experiments (R2~1) for these higher degradation temperatures with near unity correlation if the decomposition of the materials continued until the residue was attained. With this approach, it is possible to predict and optimize the thermal characteristics of PD and HDPE with greater efficiency, which reduces the need for multiple design iterations and experimentation.

8.
J Fluoresc ; 2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38913090

RESUMEN

Fluorescent cytotoxic compounds with readout delivery are crucial in chemotherapy. The growing demands of these treatment strategies require the novel heterocyclic molecules with better selectivity alongside fluorescence marker potential. In this context, a series of nine isatin Schiff base derivatives 4a-i were synthesized, characterized and evaluated for UV-visible, fluorescence, thermal and bioanalysis in order to explore the effect of structure on their bioprofiles. The analogue 4d exhibited maximum cytotoxic activity on Hella cells with percentage inhibition of 83% at 50 µM and 100% at 150 µM concentrations while 4c showed minimum cytotoxic activity with the value of 19% at 50 µM and 22% at 150 µM concentrations. Meanwhile, 4g was found to exhibit maximum inhibition potential towards Vero Cells with the percentage inhibition values of 83 at 50 µM concentration. The overall SAR study showed that the para-fluoro-substituted isatin moieties exhibited the appreciable percentage inhibition while the least activity was delivered by the isatin derivatives with para-bromo substitution.

9.
Adv Exp Med Biol ; 1441: 875-884, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38884756

RESUMEN

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled.


Asunto(s)
Atresia Tricúspide , Humanos , Aberraciones Cromosómicas , Fenotipo , Atresia Tricúspide/genética , Corazón Univentricular/genética
10.
Plant Physiol Biochem ; 212: 108784, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38823093

RESUMEN

TGA-binding (TGA) transcription factors, characterized by the basic region/leucine zipper motif (bZIP), have been recognized as pivotal regulators in plant growth, development, and stress responses through their binding to the as-1 element. In this study, the TGA gene families in melon, watermelon, cucumber, pumpkin, and zucchini were comprehensively characterized, encompassing analyses of gene/protein structures, phylogenetic relationships, gene duplication events, and cis-acting elements in gene promoters. Upon transient expression in Nicotiana benthamiana, the melon CmTGAs, with typical bZIP and DOG1 domains, were observed to localize within the nucleus. Biochemical investigation revealed specific interactions between CmTGA2/3/5/8/9 and CmNPR3 or CmNPR4. The CmTGA genes exhibited differential expression patterns in melon plants in response to different hormones like salicylic acid, methyl jasmonate, and ethylene, as well as a fungal pathogen, Stagonosporopsis cucurbitacearum that causes gummy stem blight in melon. The overexpression of CmTGA3, CmTGA8, and CmTGA9 in Arabidopsis plants resulted in the upregulation of AtPR1 and AtPR5 expression, thereby imparting enhanced resistance to Pseudomonas syringae pv. Tomato DC3000. In contrast, the overexpression of CmTGA7 or CmTGA9 resulted in a compromised resistance to Botrytis cinerea, coinciding with a concomitant reduction in the expression levels of AtPDF1.2 and AtMYC2 following infection with B. cinerea. These findings shed light on the important roles of specific CmTGA genes in plant immunity, suggesting that genetic manipulation of these genes could be a promising avenue for enhancing plant immune responses.


Asunto(s)
Arabidopsis , Cucurbitaceae , Resistencia a la Enfermedad , Regulación de la Expresión Génica de las Plantas , Enfermedades de las Plantas , Proteínas de Plantas , Arabidopsis/genética , Arabidopsis/microbiología , Resistencia a la Enfermedad/genética , Enfermedades de las Plantas/microbiología , Enfermedades de las Plantas/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Cucurbitaceae/genética , Cucurbitaceae/microbiología , Plantas Modificadas Genéticamente , Familia de Multigenes , Filogenia , Expresión Génica Ectópica , Genoma de Planta , Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/genética , Factores de Transcripción con Cremalleras de Leucina de Carácter Básico/metabolismo
12.
Acta Crystallogr C Struct Chem ; 80(Pt 6): 212-220, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38700936

RESUMEN

The crystal structures of three mixed-valence copper cyanide alkanolamine polymers are presented, together with thermogravimetric analysis (TGA) and electron spin resonance (ESR) data. In all three structures, a CuII moiety on a crystallographic center of symmetry is coordinated by two alkanolamines and links two CuICN chains via cyanide bridging groups to form diperiodic sheets. The sheets are linked together by cuprophilic CuI-CuI interactions to form a three-dimensional network. In poly[bis(µ-3-aminopropanolato)tetra-µ-cyanido-dicopper(I)dicopper(II)], [Cu4(CN)4(C3H8NO)2]n, 1, propanolamine bases have lost their hydroxyl H atoms and coordinate as chelates to two CuII atoms to form a dimeric CuII moiety bridged by the O atoms of the bases with CuII atoms in square-planar coordination. The ESR spectrum is very broad, indicating exchange between the two CuII centers. In poly[bis(2-aminopropanol)tetra-µ-cyanido-dicopper(I)copper(II)], [Cu3(CN)4(C3H9NO)2]n, 2, and poly[bis(2-aminoethanol)tetra-µ-cyanido-dicopper(I)copper(II)], [Cu3(CN)4(CH7NO)2]n, 3, a single CuII atom links the CuICN chains together via CN bridges. The chelating alkanolamines are not ionized, and the OH groups form rather long bonds in the axial positions of the octahedrally coordinated CuII atoms. The coordination geometries of CuII in 2 and 3 are almost identical, except that the Cu-O distances are longer in 2 than in 3, which may explain their somewhat different ESR spectra. Thermal decomposition in 2 and 3, but not in 1, begins with the loss of HCN(g), and this can be correlated with the presence of OH protons on the ligands in 2 and 3, which are not present in 1.

13.
Materials (Basel) ; 17(9)2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38730747

RESUMEN

Cementitious materials are used to construct an engineered barrier in repositories for radioactive waste. The cement matrix may contain a variety of organic compounds, some of which are polymeric admixtures used as plasticizers. Superplasticizers (SPs) are highly effective organic cement additives for reducing water amount, increasing workability, homogeneity, plasticity and the non-segregation of mortars and grouts, improving mechanical properties and resistance to destructive environments. SPs in cement could have an impact on the long-term safety of the disposals of radioactive waste. These organic agents can leach from the cementitious matrix into groundwater and may affect the migration behaviour of radionuclides. The detailed chemical composition and other characteristics of the cement (CEM I 42.5 R, Sweden) used for the leaching experiments were evaluated. It contained mainly CaO (52.51 ± 1.37, %), and the surface area of the cement particles was 13.2 ± 1.3 m2/g. An insignificant increase in pH (from 12.6 ± 0.1 to 12.8 ± 0.1) was observed for the leachates over 10 days. A commercially available cement superplasticizer based on polymelamine sulphonate (PMS) Peramin SMF10 (Peramin AB, Sweden) was chosen for the research. The product's chemical composition was analysed using wavelength-dispersive X-ray fluorescence (WD-XRF) spectroscopy, while other physico-chemical properties of the PMS superplasticizer were assessed by Raman spectroscopy and thermo-gravimetric analysis. In aqueous solutions and powders of PMS, the same most intensive features were observed at 774 cm-1 (ring out-of-plane deformation), 977 cm-1 (C-N-C bending, SO stretching) and 1055 cm-1 (C-N=C bending) in the Raman spectra. At up to 270 °C, the polymer was thermally stable. Raman and UV/Vis spectroscopies were used to assess the rate of the alkaline degradation of PMS superplasticizer in different aqueous solutions. No changes were observed in the hydrolytic solutions with any of the above analytical methods over a period of 3 years. The results obtained revealed a good thermal and chemical stability (in highly alkaline media, pH = 9.9-12.9) of the PMS polymer.

14.
Polymers (Basel) ; 16(9)2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38732659

RESUMEN

Nanoparticles of spinel ferrites with a composition of Co0.9Cu0.1Fe2O4 (AM NPs) were effectively synthesized via a hydrothermal route. The structure of ferrite nanoparticles was characterized with X-ray diffraction, which showed a single cubic spinel phase. Energy-dispersive X-ray (EDX) spectroscopy and field emission-scanning electron microscopy (FE-SEM) were employed to analyse elemental composition and surface morphology, respectively. Moreover, the effects of the Co0.9Cu0.1Fe2O4 on the morphology of [PLA = polylactic acid] nanocomposites were examined through polarized light optical microscopy (POM) and X-ray diffraction (XRD). The thermal behaviours for tested samples were studied through [DSC = differential scanning calorimetry] and [TGA = thermal gravimetric analysis]. A great number of minor PLA spherulites were detected using POM in the presence of the Co0.9Cu0.1Fe2O4 ceramic magnetic nanoparticles (AM), increasing with AM nanoparticle contents. X-ray diffraction (XRD) analysis showed that the presence of nanoparticles led to an increase in the intensity of diffraction peaks. The DSC findings implied that the crystallization behaviours for the efficient PLA as well as its nanocomposites were affected by the addition of AM nanoparticles. They act as efficient nucleating agents because they shift the temperature of crystallization to a lower value. The Avrami models were used to analyse kinetics data. The experimental data were well described using the Avrami method for all samples tested. The addition of AM to the PLA matrix resulted in a decrease in the crystallization half-time t1/2 values, indicating a faster crystallization rate. TGA data showed that the occurrence of AM nanoparticles decreased the thermal stability of PLA.

15.
Cureus ; 16(4): e57518, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38707058

RESUMEN

Transposition of the great arteries (TGA) is the second most common cyanotic congenital cardiac defect and affects around 4.7 in 10,000 live births. Patients present at birth with profound cyanosis due to inadequate oxygen delivery to the systemic circulation. Typical management after birth involves the administration of prostaglandins and oxygen while awaiting surgical repair. Balloon atrial septostomy may be performed depending on the adequacy of the interatrial communication. In this case report, we present a challenging case of TGA ventricular septal defect (VSD) and pulmonary stenosis (PS), demonstrating the importance of bedside clinical examination along with applying basic management principles. The patient underwent a right modified Blalock-Taussig-Thomas shunt (BTT) along with left pulmonary artery (LPA) reconstruction and main pulmonary artery band as an initial palliative procedure. The patient deteriorated post-operatively, with increasing desaturations and oxygen requirements. Though imaging suggested sufficient inter-circulatory mixing, the clinical picture of desaturation without respiratory distress and lack of response to oxygen and pulmonary vasodilatory therapy strongly suggested otherwise. The child therefore underwent a balloon atrial septostomy. Their clinical condition improved and they were discharged three days later. We describe this case's clinical course, medical and surgical management, and learning points.

16.
Int J Mol Sci ; 25(10)2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38791509

RESUMEN

Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families. We performed clinical phenotyping for two newborn infants with complex congenital heart defects. For genetic investigations, we employed next-generation sequencing strategies including whole-genome Single-Nucleotide Polymorphism (SNP) microarray for infant A with valvular insufficiency, aortic sinus dilatation, hydronephrosis, and dysmorphic features, and Trio whole-exome sequencing (WES) for infant B with dextro-transposition of the great arteries (D-TGA) and both parents. Infant A is a term male with neonatal marfanoid features, left-sided hydronephrosis, and complex congenital heart defects including tricuspid regurgitation, aortic sinus dilatation, patent foramen ovale, patent ductus arteriosus, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and pulmonary sinus dilatation. He developed severe persistent pulmonary hypertension and worsening acute hypercapnic hypoxemic respiratory failure, and subsequently expired on day of life (DOL) 10 after compassionate extubation. Cytogenomic whole-genome SNP microarray analysis revealed a deletion within the FBN1 gene spanning exons 7-30, which overlapped with the exon deletion hotspot region associated with neonatal Marfan syndrome. Infant B is a term male prenatally diagnosed with isolated D-TGA. He required balloon atrial septostomy on DOL 0 and subsequent atrial switch operation, atrial septal defect repair, and patent ductus arteriosus ligation on DOL 5. Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the FBN2 gene. Zygosity analysis confirmed each of the variants was inherited from one of the parents who were healthy heterozygous carriers. Since his cardiac repair at birth, he has been growing and developing well without any further hospitalization. Our study highlights novel FBN1/FBN2 variants and signifies the phenotype-genotype association in two infants affected with complex congenital heart defects with and without dysmorphic features. These findings speak to the importance of next-generation high-throughput genomics for novel variant detection and the phenotypic variability associated with FBN1/FBN2 variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling.


Asunto(s)
Fibrilina-1 , Fibrilina-2 , Cardiopatías Congénitas , Síndrome de Marfan , Humanos , Fibrilina-1/genética , Síndrome de Marfan/genética , Fibrilina-2/genética , Masculino , Recién Nacido , Cardiopatías Congénitas/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Femenino , Polimorfismo de Nucleótido Simple , Mutación , Genómica/métodos , Fenotipo , Secuenciación del Exoma , Adipoquinas
17.
Anal Sci ; 2024 May 13.
Artículo en Inglés | MEDLINE | ID: mdl-38740714

RESUMEN

Herein, a ratiometric fluorimetric nanosensor is introduced for the sensitive and selective analysis of chlorpromazine (CPZ) via employing blue-emitting B-doped carbon dots (B-CDs) as the reference fluorophore and green-emitting CdTe capped thioglycolic acid (TGA) quantum dots (TGA-CdTe-QDs) as the specific recognition probe. The sensor exhibits dual emission centered at 440 and 560 nm, under a single excitation wavelength of 340 nm. Upon the addition of ultra-trace amount of CPZ, the fluorescence signal of TGA-CdTe-QDs declines due to electron transfer process from excited TGA-CdTe-QDs to CPZ molecules, whereas the fluorescence peak of B-CDs is unaffected. Therefore, a new fluorimetric platform was prepared for the assay of CPZ in the range of 2.2 × 10-10 to 5.0 × 10-9 M with a detection limit of 1.3 × 10-10 M. Moreover, the practicability of the designed strategy was investigated for the detection of CPZ in biological samples and the results demonstrate that it possesses considerable potential to be utilized in practical applications.

18.
Polymers (Basel) ; 16(10)2024 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-38794556

RESUMEN

In this study, the objective was to optimize energy consumption in the fused deposition modeling (FDM) 3D printing process via a detailed analysis of printing parameters. By utilizing thermal analysis techniques, this research aimed to identify lower printing temperatures that could lead to reduced energy usage. Experimental analysis was conducted using a three-level L9 Taguchi orthogonal array, which involved a systematic combination of different extruder temperatures and cooling fan capacities. Furthermore, the research incorporated differential scanning calorimetry (DSC) and X-ray diffraction (XRD) methods to analyze the thermal properties and crystallinity of the 3D-printed specimens. The results indicated that temperature was a key factor affecting crystallinity, with samples printed at 190 °C and 60% fan capacity showing the highest mean values. By conducting a multi-objective desirability analysis, the optimal conditions for maximizing ultimate tensile strength (UTS), tensile modulus, and elongation at break while minimizing energy consumption for PLA 3D-printed samples were determined to be a temperature of 180 °C and a fan speed of 80%.

19.
Waste Manag Res ; : 734242X241241604, 2024 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-38600728

RESUMEN

In this study, the thermal behaviours of Cannabis sativa (CS), coal and their five different blends at a heating rate (ß) of 10, 20, 30, 40 and 50°C min-1; the synergistic effects between CS and coal; and the distribution of gases formed during pyrolysis and combustion were investigated by using the thermogravimetric analysis/Fourier transform infrared spectrometer (TGA/FTIR) integrated system. The TG and DTG curves showed that the thermal decomposition of pyrolysis and combustion of all feedstocks at all ß values had three main decomposition stages. The synergistic effect was observed for DTGmax, mass loss (ML), or final residue (FR) at least once at a given ß of each blend; and the synergy was more effective for DTGmax and ML in pyrolysis than in combustion, whereas the opposite was true for FR. The lowest emissions of CO2, CH4, NOx and SO2 except CO during pyrolysis occurred at the blend of 0% CS + 100% Coal. However, the highest emissions of CO, CH4, NOx and SO2 except CO2 during combustion were observed at the blend of 80% CS + 20% Coal. The emissions of CO, CO2, NOx and SO2 from all samples during pyrolysis were lower than that of combustion, indicating that pyrolysis can be preferred due to its lower emission to the environment. Different structural properties of CS, coal and their blends caused different thermal behaviours, synergistic effects and gas products during pyrolysis and combustion by TGA/FTIR, suggesting detailed further investigation for upper-scale pyrolysis and combustion applications.

20.
Polymers (Basel) ; 16(7)2024 Apr 04.
Artículo en Inglés | MEDLINE | ID: mdl-38611250

RESUMEN

This study addresses the challenge of enhancing the transverse mechanical properties of oriented polyacrylonitrile (PAN) nanofibers, which are known for their excellent longitudinal tensile strength, without significantly compromising their inherent porosity, which is essential for effective filtration. This study explores the effects of doping PAN nanofiber composites with varying concentrations of polyvinyl alcohol (PVA) (0.5%, 1%, and 2%), introduced into the PAN matrix via a dip-coating method. This approach ensured a random distribution of PVA within the nanofiber mat, aiming to leverage the synergistic interactions between PAN fibers and PVA to improve the composite's overall performance. This synergy is primarily manifested in the structural and functional augmentation of the PAN nanofiber mats through localized PVA agglomerations, thin films between fibers, and coatings on the fibers themselves. Comprehensive evaluation techniques were employed, including scanning electron microscopy (SEM) for morphological insights; transverse and longitudinal mechanical testing; a thermogravimetric analysis (TGA) for thermal stability; and differential scanning calorimetry (DSC) for thermal behavior analyses. Additionally, a finite element method (FEM) analysis was conducted on a numerical simulation of the composite. Using our novel method, the results demonstrated that a minimal concentration of the PVA solution effectively preserved the porosity of the PAN matrix while significantly enhancing its mechanical strength. Moreover, the numerical simulations showed strong agreement with the experimental results, validating the effectiveness of PVA doping in enhancing the mechanical properties of PAN nanofiber mats without sacrificing their functional porosity.

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