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The TixMo1-xC precursor was rendered porous through PUF foam replication using a slurry of TiC and Mo powders. Mo was incorporated to increase the strength of pressureless sintering (PS). The precursor served as a reinforcement for bicontinuous TixMo1-xC/Fe composites through pressureless infiltration. The interaction between Fe and TixMo1-xC was studied through experimental and theoretical analyses, establishing interfacial adhesion as a key determinant of wettability. At 1550 °C, the TiC/Fe interface exhibits non-reactive wetting, with a contact angle of 9.5°. Addition of 10 wt% Mo escalates interfacial adhesion to 3.768 J/m2and reduces the contact angle to 9.3° at 1400 °C. TixMo1-xC's precursor has a continuous structure, while composites exhibit slight continuity as predicated by convolutional neural networks (CNNs). The morphological classifications of TixMo1-xC/Fe composites were posited. Alteration from TiC to Ti0.95Mo0.05C increases Young's modulus and hardness from 449.74 GPa to 28.58 GPa–520.55 GPa and 32.32 GPa, respectively. Without heat treatment, the tensile strength of composites rises from 125 MPa to 208 MPa. Increased strain energy density increases the prominence of dimples.

ABSTRACT To meet the requirement of thermal insulation material in buildings, porous bricks with high porosity, high strength and low thermal conductivity were fabricated by foam-gelcasting technology using industrial waste [...]

In this article, we propose a new method to inpaint videos with removed regions. Our method was developed based on combining both short-term propagation-based inpainting (STPI) and long-term propagation-based inpainting (LTPI) modules. The STPI module is designed to in-fill an image from a single frame with local reference information, while the LTPI module uses multiple STPI modules to inpaint the whole video, giving high temporal consistency and low complexity. With both of the proposed modules, the correlated spatiotemporal information of frames can be propagated throughout the video, offering reliable short-long-term source information for inpainting. The experimental results demonstrate that our proposed method provides better results when compared with the state of the art.

Objective: The minimally invasive treatment of pelvic fractures is one of the most challenging trauma orthopedics surgeries, where preoperative planning is crucial for the performance and outcome of the surgery. However, planning the ideal position of fragments currently relies heavily on the experience of the surgeon. Methods: A pelvic fracture virtual reduction algorithm for target position is provided based on statistical shape models (SSM). First, according to sexual dimorphism, pelvic SSM based on point cloud curvature down-sampling are constructed as adaptive templates. Then, an optimization algorithm is designed to iteratively adjust the target pose of the fragments and the adaptive matching of the templates. Finally, the feasibility of the method is verified by simulating fractures and clinical data. Results: The pelvis has complex shape characteristics, which can be analyzed by SSM to clearly understand the pattern of change. Experiments showed that the SSM-based pelvic fracture reduction method had translation and rotation errors of 2.20±1.09 mm and 3.16±1.26° in simulated cases, and 2.78±0.95 mm and 3.10±0.53° in clinical cases, which has higher accuracy than methods based on mean shape models, and wider applicability than methods based on pelvic symmetry. Conclusion: The pelvic digital model created by SSM has good generalization properties, and the SSM-based virtual reduction algorithm can effectively reconstruct the target position of the fractured pelvis in preoperative planning. Significance: The proposed reduction method has the characteristics of high precision and wide application range, which provides a powerful tool for the surgeon's virtual preoperative planning.

High Cr white irons (HCWIs) are often used as high-temperature components exposed to the temperatures exceeding 500 °C. Improving oxidation resistance of HCWI components is necessary for engineering applications. In the present study, oxidation behaviors of high Cr white iron (HCWI) and its composites reinforced with 1–2 μm nonstoichiometric TiCxresulting from the decomposition of Ti3AlC2(in situ TiCx/HCWI), and 2–4 μm irregular-shape of TiC (TiC/HCWI) at 600 °C for 96 h in air were investigated. Results showed that the two composites exhibited better oxidation resistance than the pure HCWI material. The oxidation test revealed a weight loss for the unreinforced HCWI but a weight gain for the composites. Among these materials, the in situ TiCx/HCWI composite has the best oxidation resistance due to its dense and fine microstructure. Oxidative thermodynamics and oxidation mechanism were discussed. This work suggests that in situ formed TiCxis an effective reinforcement to improve the oxidation resistance of HCWIs.

TiO2semiconductor photocatalysis is an effective technology for the treatment of wastewater containing organic dye pollutants, which has been received extensive focus. However, the problems in the recovery and reutilization process impede the large-scale applications of particulate photocatalytic materials. Herein, a macro sized hydrogel bead loaded with nano TiO2powder was successfully prepared by taking advantage of the cross-linking and gel property of alginate salt, which could form egg-box structure naturally when Na+ions in sodium alginate (SA) were replaced by divalent ions such as Cu2+, Co2+, and Sr2+ions. The photocatalytic degradation rate of methyl orange (MO) solution in the presence of the hydrogel beads reaches 99% within 60 min under the ultraviolet light irradiation, which is competitive with that of TiO2nano powder. Furthermore, the hydrogel beads prepared by this strategy maintain over 95% photocatalytic degradation rate after 10 cycles of degradation process. The results indicate that the network structure of alginate could immobilize and disperse TiO2particle effectively, and it is readily for the spherical beads to contact and harvest the light, making the alginate beads have excellent photocatalytic functions. Also, the alginate based beads integrate good performance with high stability and excellent recyclability perfectly.

The signaling role of comprehensive Internet auction institutional features in addressing the adverse selection problem is studied. The effects of these features on consumer participation and bidding, factors behind the credibility of quality indicators, and the reactions of different buyers to these are studied.

This paper proposes a novel all-digital background calibration of timing mismatch for a time-interleaved analog-to-digital converter (TIADC). For two different calibration strategies, the absolute calibration and the relative calibration, the inductive expressions of modulation matrices are derived from the coefficient matrices provided by different estimation methods. Based on the modulation matrix, we develop a digital calibration architecture, which enables the output of TIADC to be modulated firstly before being corrected, so the costly matrix multiplication processing can be avoided. This calibration architecture also enables the estimation process of each channel to be independent and can be executed simultaneously, which accelerates the convergence speed of the timing mismatch. We show the efficiency of the calibration structure by simulations, including examples from the literature. Numerical simulation demonstrates that the convergence speed of the timing mismatch has been improved by at least 27%, compared with the estimation method depending on the specified reference channel. The result of FPGA-based hardware implementation shows that the spurious-free dynamic range (SFDR) is improved by 37.63dB. [ABSTRACT FROM AUTHOR]

Bisphenols (BPs), prevalent endocrine disruptors in daily life, have been widely studied in vitro for their potential to cause liver diseases, including liver cancer. However, there is a dearth of research exploring BP levels in clinical populations with liver issues. This study comprehensively analyzed the distribution and characteristics of ten BPs in paired serum, blood, and urine samples from 197 hepatocellular carcinoma (HCC) patients and 100 non-HCC patients. The study investigated the impact of sociodemographic factors, such as gender, BMI (Body Mass Index), age, drinking, and smoking habits, on BP distribution. Additionally, it analyzed the relationship between BPs and three liver function biomarkers: γ-glutamyl transferase (GGT), alanine aminotransferase (ALT) and alpha-fetoprotein (AFP). Notably, some BP levels were higher in non-HCC patients compared to HCC patients across all three sample types. For HCC patients, the BP concentrations followed the order of serum (29.12 ng/mL) > blood (18.36 ng/mL) > urine (14.91 ng/mL), whereas for non-HCC patients, the order was urine (30.79 ng/mL) > serum (29.51 ng/mL) > blood (24.34 ng/mL). Moreover, BP levels in all patient samples, regardless of HCC status, increased with age. Among HCC patients, females were found to have a higher exposure to BPs compared to males, while the opposite trend was observed in non-HCC patients. Furthermore, the study revealed positive correlations between BPs and liver function indicators, such as ALT and BPAF, BPAP, BPBP; GGT and BPF; and AFP and BPF. These findings suggest a potential association between BPs and liver disease. This comprehensive analysis of BP concentrations in bio-samples from liver disease patients provides valuable insights into the relationship between BPs and liver disease in clinical settings, serving as a reference for future research and clinical practice.

Novel MoAlB composites reinforced with 5–15 vol% SiC have been firstly prepared and characterized in the present study. The SiC reinforcement is stable with MoAlB at a sintering temperature of 1200 °C in Ar. The 5 vol% SiC/MoAlB composite exhibited improved mechanical properties and enhanced oxidation resistance. A flexural strength of 380 MPa and a Vickers hardness of 12.7 GPa were achieved and increased by 24% and 51%, respectively, as compared with those for MoAlB, indicating the enhanced strengthening effect of SiC. Cyclic oxidation tests at 1200 and 1300 °C for 10 h in air showed that the 5 vol% SiC/MoAlB composite has better oxidation resistance than MoAlB due to the formation of a dense and continuous scale composed of Al2O3and SiO2, which prevents the oxygen inward diffusion and the evaporation of oxides. We expect that the general strategy of second phase reinforcing for materials will help to widen the applications of MoAlB composites.

Ti2AlC, a MAX phase ceramic, has an attractive self-healing ability to restore performance via the oxidation-induced crack healing mechanism upon healing at high temperatures in air (high oxygen partial pressures). However, such healing ability to repair damages in vacuum or low oxygen partial pressure conditions remains unknown. Here, we report on the self-healing behavior of Ti2AlC at a low oxygen partial pressure of about 1 Pa. The experimental results showed that the strength recovery depends on both healing temperature and time. After healing at 1400 °C for 1–4 h, the healed samples exhibited the recovered strengths even exceeding the original strength of 375 MPa. The maximum recovered strength of ∼422 MPa was achieved in the healed Ti2AlC sample after healing at 1400 °C for 4 h, about 13% higher than the original strength. Damages were healed by the formed TiCxfrom the decomposition of Ti2AlC. The decomposition-induced crack healing as a new mechanism in the low oxygen partial pressure condition was disclosed for the MAX ceramics. The present study illustrates that key components made of Ti2AlC can prolong their service life and keep their reliability during use at high temperatures in low oxygen partial pressures.

[Display omitted] • We report M2 macrophage targeted peptide (M2pep) functionalized SPIO nanoparticles. • SPIO-M2pep possesses targeting, magnetic hypothermia and MR imaging abilities. • SPIO-M2pep can selectively and effectively target to M2 macrophages in tumor. • SPIO-M2pep-based MRI-guided magnetic hyperthermia effectively hinders tumor growth. • SPIO-M2pep-based MHT can remodel the tumor immune microenvironment. Tumor-associated macrophages (TAMs) play an important role in tumor development and progression. In particular, M2 TAMs can promote tumor growth by facilitating tumor progression and malignant behaviors. Selectively targeted elimination of M2 TAMs to inhibit tumor progression is of great significance for cancer treatment. Iron oxide nanoparticles based magnetic hyperthermia therapy (MHT) is a classical approach to destroy tumor tissue with deep penetration depth. In this study, we developed a typical M2 macrophage-targeted peptide (M2pep) functionalized superparamagnetic iron oxide nanoparticle (SPIO) for magnetic resonance imaging (MRI)-guided MHT in an orthotopic breast cancer mouse model. The obtained multifunctional SPIO-M2pep with a hydrodynamic diameter of 20 nm showed efficient targeting capability, high transverse relaxivity (149 mM−1 s−1) and satisfactory magnetic hyperthermia performance in vitro. In vivo studies demonstrated that the SPIO-M2pep based MRI can monitor the distribution of nanoparticles in tumor and indicate the suitable timing for MHT. The M2 macrophage-targeted MHT significantly reduced the tumor volume and the population of pro-tumoral M2 TAMs in tumor. In addition, the SPIO-M2pep based MHT can remodel the tumor immune microenvironment (TIME). The multifunctional SPIO-M2pep with M2 macrophage-targeting ability, high magnetic hyperthermia efficiency, MR imaging capability and effective role in remodeling the TIME hold great potential to improve clinical cancer therapy outcomes. [ABSTRACT FROM AUTHOR]

Pt based materials are the most efficient electrocatalysts for the oxygen reduction reaction (ORR) and methanol oxidation reaction (MOR) in fuel cells. Maximizing the utilization of Pt based materials by modulating their morphologies to expose more active sites is a fundamental objective for the practical application of fuel cells. Herein, we report a new class of hierarchically skeletal Pt-Ni nanocrystals (HSNs) with a multi-layered structure, prepared by an inorganic acid-induced solvothermal method. The addition of H2SO4to the synthetic protocol provides a critical trigger for the successful growth of Pt-Ni nanocrystals with the desired structure. The Pt-Ni HSNs synthesized by this method exhibit enhanced mass activity of 1.25 A mgpt−1at 0.9 V (versus the reversible hydrogen electrode) towards ORR in 0.1-M HClO4, which is superior to that of Pt-Ni multi-branched nanocrystals obtained by the same method in the absence of inorganic acid; it is additionally 8.9-fold higher than that of the commercial Pt/C catalyst. Meanwhile, it displays enhanced stability, with only 21.6% mass activity loss after 10,000 cycles (0.6–1.0 V) for ORR. Furthermore, the Pt-Ni HSNs show enhanced activity and anti-toxic ability in CO for MOR. The superb activity of the Pt-Ni HSNs for ORR and MOR is fully attributed to an extensively exposed electrochemical surface area and high intrinsic activity, induced by strain effects, provided by the unique hierarchically skeletal alloy structure. The novel open and hierarchical structure of Pt-Ni alloy provides a promising approach for significant improvements of the activity of Pt based alloy electrocatalysts.

MAX phases (Ti3SiC2, Ti3AlC2, V2AlC, Ti4AlN3, etc.) are layered ternary carbides/nitrides, which are generally processed and researched as structure ceramics. Selectively removing A layer from MAX phases, MXenes (Ti3C2, V2C, Mo2C, etc.) with two-dimensional (2D) structure can be prepared. The MXenes are electrically conductive and hydrophilic, which are promising as functional materials in many areas. This article reviews the milestones and the latest progress in the research of MAX phases and MXenes, from the perspective of ceramic science. Especially, this article focuses on the conversion from MAX phases to MXenes. First, we summarize the microstructure, preparation, properties, and applications of MAX phases. Among the various properties, the crack healing properties of MAX phase are highlighted. Thereafter, the critical issues on MXene research, including the preparation process, microstructure, MXene composites, and application of MXenes, are reviewed. Among the various applications, this review focuses on two selected applications: energy storage and electromagnetic interference shielding. Moreover, new research directions and future trends on MAX phases and MXenes are also discussed.

Tracing magnetically labeled cells with magnetic resonance imaging (MRI) is an emerging and promising approach to uncover in vivobehaviors of cells in cell therapy. Today, existing methods for the magnetic labeling of cells are cumbersome and time-consuming, which has greatly limited the progress of such studies on cell therapy. Thus, in this study, using the flow cytometric loading technology, we develop a sonoporation-based microfluidic chip (i.e., a microfluidic chip integrated with ultrasound; MCU), to achieve the safe, instant, convenient, and continuous magnetic labeling of cells. For the MCU we designed, a suitable group of operating conditions for safely and efficiently loading superparamagnetic iron oxide (SPIO) nanoparticles into DC2.4 cells was identified experimentally. Under the identified operating conditions, the DC2.4 cells could be labeled in approximately 2 min with high viability (94%) and a high labeling quantity of SPIO nanoparticles (19 pg of iron per cell). In addition, the proliferative functions of the cells were also well maintained after labeling. Furthermore, the in vivoimaging ability of the DC2.4 cells labeled using the MCU was verified by injecting the labeled cells into the leg muscle of the C57BL/6 mice. The results show that the excellent imaging outcome can be continuously achieved for 7 days at a density of 106cells/mL. This work can provide insight for the design of magnetic cell labeling devices and promote the MRI-based study of cell therapies.

Two kinds of high Cr white iron (HCWI) composites reinforced with directly added TiC (TiC/HCWI) and in situ formed TiCx(TiCx/HCWI) have been successfully synthesized by powder metallurgy method. The directly added TiC grains are irregular in shape with a mean size of about 2−4 μm, but the in situ formed TiCx grains from the decomposition of Ti3AlC2are spherical and about 1–2 μm in size. The microstructure, mechanical properties and wear resistance of the two composites were compared. The in situ TiCx/HXCWI composite possesses finer microstructures and superior mechanical and wear resistant properties than TiC/HCWI composite. The phase composition and microstructure were characterized with X-ray diffraction analysis, scanning electron microscopy and transmission electron microscopy.

Ti3C2Txreinforced Al matrix composites exhibit improved mechanical and frictional properties due to the homogeneous distribution of Ti3C2Txand the formation of strong bonding interfaces in the composites.

Haemopoietic stem-cell transplantation (HSCT) eradicates host haemopoiesis before venous infusion of haemopoietic stem cells (HSCs). The pathway to cellular recovery has been difficult to study in human beings because of risks associated with interventions during aplasia. We investigated whether 18F-fluorothymidine (18F-FLT) imaging was safe during allogenic HSCT and allowed visualisation of early cellular proliferation and detection of patterns of cellular engraftment after HSCT.

ABSTRACT(Cr,Mn)2AlC solid solutions have attracted much attention due to their magnetic property which will be enhanced with increasing Mn solubility. So far, only 3 at.-% Mn solubility in (Cr,Mn)2AlC bulk materials has been reported. This work reports on the synthesis of (Cr,Mn)2AlC solid solutions via a new reaction route with AlCr2, C and Mn as starting materials. The Mn solubility increases with increasing the starting Mn content. The maximum solubility of Mn in (Cr,Mn)2AlC was 8.3 at.-%, corresponding to a resultant solid solution (Cr0.83Mn0.17)2AlC. However, increasing the Mn content in the starting mixture caused the formation of impurities in the sintered samples. A dense (Cr0.95Mn0.05)2AlC ceramic has been achieved by hot-pressing the mixture of AlCr2/C/0.1Mn. The mechanical properties and thermal expansion coefficient of (Cr0.95Mn0.05)2AlC were measured.

With the emergence of various cutting-edge micromachining technologies, lab on a chip is growing rapidly, but it is always a challenge to realize the on-chip separation of living cells from cell samples without affecting cell activity and function. Herein, we report a novel on-chip label-free method for sorting living and dead cells by integrating the hypertonic stimulus and tilted-angle standing surface acoustic wave (T-SSAW) technologies. On a self-designed microfluidic chip, the hypertonic stimulus is used to distinguish cells by producing volume differences between living and dead cells, while T-SSAW is used to separate living and dead cells according to the cell volume difference. Under the optimized operation conditions, for the sample containing 50% of living human umbilical vein endothelial cells (HUVECs) and 50% of dead HUVECs treated with paraformaldehyde, the purity of living cells after the first separation can reach approximately 80%, while after the second separation, it can be as high as 93%; furthermore, the purity of living cells after separation increases with the initial proportion of living cells. In addition, the chip we designed is safe for cells and can robustly handle cell samples with different cell types or different causes of cell death. This work provides a new design of a microfluidic chip for label-free sorting of living and dead cells, greatly promoting the multi-functionality of lab on a chip.

Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2was identified. The mother had the same mutation and the father did not. The mother had decreased vision, congenitally missing teeth, and required jaw surgery as a child. Her asymptomatic parents elected to be tested and were negative for the mutation. The mutation, NM_153427.2:c.272G>A (p.Arg91Gln), is predicted to be damaging by PolyPhen-2 (score of 0.997), identified as a missense mutation with an allele frequency of 1.648e-05 by the Exome Aggregation Consortium, and has been reported in ClinVar once, by the laboratory that analyzed our patient's sample. Due to the in silico predictions and the results of family studies, it is suggested that this variant can be classified as pathogenic according to the American College of Medical Genetics and Genomics 2015 rule Pathogenic(iii)(b), specifically rules PS2, PM2, PM5, PP1, and PP3.

Fluorescence in situ hybridization (FISH) technology provides a promising molecular imaging tool to detect cervical cancer. Since manual FISH analysis is difficult, time-consuming, and inconsistent, the automated FISH image scanning systems have been developed. Due to limited focal depth of scanned microscopic image, a FISH-probed specimen needs to be scanned in multiple layers that generate huge image data. To improve diagnostic efficiency of using automated FISH image analysis, we developed a computer-aided detection (CAD) scheme. In this experiment, four pap-smear specimen slides were scanned by a dual-detector fluorescence image scanning system that acquired two spectrum images simultaneously, which represent images of interphase cells and FISH-probed chromosome X. During image scanning, once detecting a cell signal, system captured nine image slides by automatically adjusting optical focus. Based on the sharpness index and maximum intensity measurement, cells and FISH signals distributed in 3-D space were projected into a 2-D con-focal image. CAD scheme was applied to each con-focal image to detect analyzable interphase cells using an adaptive multiple-threshold algorithm and detect FISH-probed signals using a top-hat transform. The ratio of abnormal cells was calculated to detect positive cases. In four scanned specimen slides, CAD generated 1676 con-focal images that depicted analyzable cells. FISH-probed signals were independently detected by our CAD algorithm and an observer. The Kappa coefficients for agreement between CAD and observer ranged from 0.69 to 1.0 in detecting/counting FISH signal spots. The study demonstrated the feasibility of applying automated FISH image and signal analysis to assist cyto-geneticists in detecting cervical cancers.

Fluorescence in situ hybridization (FISH) tests provide promising molecular imaging biomarkers to more accurately and reliably detect and diagnose cancers and genetic disorders. Since current manual FISH signal analysis is low-efficient and inconsistent, which limits its clinical utility, developing automated FISH image scanning systems and computer-aided detection (CAD) schemes has been attracting research interests. To acquire high-resolution FISH images in a multi-spectral scanning mode, a huge amount of image data with the stack of the multiple three-dimensional (3-D) image slices is generated from a single specimen. Automated preprocessing these scanned images to eliminate the non-useful and redundant data is important to make the automated FISH tests acceptable in clinical applications. In this study, a dual-detector fluorescence image scanning system was applied to scan four specimen slides with FISH-probed chromosome X. A CAD scheme was developed to detect analyzable interphase cells and map the multiple imaging slices recorded FISH-probed signals into the 2-D projection images. CAD scheme was then applied to each projection image to detect analyzable interphase cells using an adaptive multiple-threshold algorithm, identify FISH-probed signals using a top-hat transform, and compute the ratios between the normal and abnormal cells. To assess CAD performance, the FISH-probed signals were also independently visually detected by an observer. The Kappa coefficients for agreement between CAD and observer ranged from 0.69 to 1.0 in detecting/counting FISH signal spots in four testing samples. The study demonstrated the feasibility of automated FISH signal analysis that applying a CAD scheme to the automated generated 2-D projection images.

The purpose of this paper is to report a new automatic scanning scheme for high throughput microscopic systems aiming to facilitate disease diagnosis in genetic laboratories. To minimize the impact of the random vibration and mechanical drifting of the scanning stage in microscopic image acquisition, auto-focusing operations are usually applied repeatedly during the scanning process. Such methods ensure the acquisition of well focused images for clinical diagnosis, but are time consuming. The technique investigated in this preliminary study applies the auto-focusing operations at a limited number of locations on the slide. For the rest of the imaging field, the focusing position is quickly adjusted through linear interpolation. In this initial validation study, blood pathological slides containing both metaphase and interphase cells are scanned. For a selected area of 6.9mm×6.9mm, a number of 2×2, 3×2, 3×3, and 4×4 positions are evenly sampled for auto-focusing operations. Respectively, 25, 29, 40, and 41 clinically meaningful cells are identified for each sampling scheme. For the specific case investigated, the results demonstrate that the 4 position auto-focusing scheme could obtain the adequate number of clinically meaningful cells for the diagnosis. The schemes with more auto-focusing operations provide an option for high reliability diagnosis when clinically necessary. More comprehensive research is planned, and that may lead to optimal design of trade-off for developing the scanning scheme of the high throughput microscopic systems.

The purpose of this study is to investigate the impact of the depth of field (DOF) of microscopic systems on cytogenetic image qualities. Due to the narrow DOF of high magnification, large numerical aperture (N.A.) objective lenses, random vibrations of even high precision scanning stages may result in large amount of off focused images. In this study, the DOF of microscopic systems with various objective magnifications/numerical apertures (N.A.) is first measured using standard resolution targets. The impact of DOF on cytogenetic image qualities is then subjectively evaluated with clinical samples, by comparing the band shape and sharpness of analyzable chromosomes. For a specific digital microscopic system with 100× objective lens (N.A. = 1.25), the results of observational studies revealed that chromosomal bands are still recognizable when the images are obtained approximately +/- 1 m from the focusing plane. The chromosomal bands become fuzzy and unrecognizable when the system is 1.5 m away from the focusing position. The results of this preliminary experimental study may provide useful design trade-off parameters for developing optimal scanning microscopic systems for cytogenetic applications.

Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy.

OBJECTIVE: Systemic lupus erythematosus (SLE) is more common among women than men, a ratio of about 10 to 1. We undertook this study to describe familial male SLE within a large familial SLE cohort. METHODS: SLE families (2 or more patients) were identified from the Lupus Multiplex Registry and Repository. Genomic DNA and blood samples were obtained using standard methods. Autoantibodies were determined by multiple methods. Medical records were abstracted for SLE clinical data. Fluorescent in situ hybridization (FISH) was performed with X and Y centromere-specific probes, and a probe specific for the Toll-like receptor 7 gene on the X chromosome. RESULTS: Among 523 SLE families, we found 5 families in which all the SLE patients were male. FISH found no yaa gene equivalent in these families. SLE-unaffected primary female relatives from the 5 families with only-male SLE patients had a statistically increased rate of positive antinuclear antibodies compared to SLE-unaffected female relatives in other families. White men with SLE were 5 times more likely to have an offspring with SLE than White women with SLE, but there was no difference in this likelihood among Black men. CONCLUSION: Because women in the all-male families had positive antinuclear antibodies, and men are more likely to have children with SLE, these data suggest genetic susceptibility factors that act only in men.

The numerical and/or structural deviation of some chromosomes (i.e., monosomy and polysomy of chromosomes 3 and X) are routinely used as positive genetic biomarkers to diagnose cervical cancer and predict the disease progression. Among the available diagnostic methods to analyze the aneusomy of chromosomes 3 and X, fluorescence in situ hybridization (FISH) technology has demonstrated significant advantages in assisting clinicians to more accurately detect and diagnose cervical carcinoma at an early stage, in particular for the women at a high risk for progression of low-grade and high-grade squamous intraepithelium lesions (LSIL and HSIL). In order to increase the diagnostic accuracy, consistency, and efficiency from that of manual FISH analysis, this study aims to develop and test an automated FISH analysis method that includes a two-stage scheme. In the first stage, an interactive multiple-threshold algorithm is utilized to segment potential interphase nuclei candidates distributed in different intensity levels and a rule-based classifier is implemented to identify analyzable interphase cells. In the second stage, FISH labeled biomarker spots of chromosomes 3 and X are segmented by a top-hat transform. The independent FISH spots are then detected by a knowledge-based classifier, which enables recognition of the splitting and stringy FISH signals. Finally, the ratio of abnormal interphase cells with numerical changes of chromosomes 3 and X is calculated to detect positive cases. The experimental results of four test cases showed high agreement of FISH analysis results between the automated scheme and the cytogeneticist's analysis including 92.7% to 98.7% agreement in cell segmentation and 4.4% to 11.0% difference in cell classification. This preliminary study demonstrates the feasibility of potentially applying the automatic FISH analysis method to expedite the screening and detecting cervical cancer at an early stage.

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast‐specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fontanel closure, hypoplastic clavicles and pubic rami, and supernumerary dentition. Additional abnormalities of bone growth and connective tissue, including easy bruisability, scarring, bleeding, joint hypermobility, and developmental delay were also observed. Molecular cytogenetic studies identified a de novo apparently balanced three‐way translocation 46,XY,t(4;6;21)(p16;p21.1;q21). Further mapping revealed the breakpoint on 6p21 to be ∼50 kb upstream of exon 1 of the RUNX2 gene, with RUNX2 being intact on the derivative chromosome 6. We hypothesize that the proband's CCD has arisen from disruption of the developmentally regulated gene RUNX2 at the 6p21 breakpoint, due to a position effect mutation which may have altered the expression of the gene. Further studies might unravel a new regulatory element for RUNX2. © 2008 Wiley‐Liss, Inc.

This study presented a fully-automated computer-aided method (scheme) to detect metaphase chromosomes depicted on microscopic digital images, count the total number of chromosomes in each metaphase cell, compute the DNA index, and correlate the results to the prognosis of childhood acute lymphoblastic leukemia (ALL). The computer scheme first uses image filtering, threshold, and labeling algorithms to segment and count the number of the suspicious “chromosome,” and then computes a feature vector for each “detected chromosome.” Based on these features, a knowledge-based classifier is used to eliminate those “non-chromosome” objects (i.e., inter-phase cells, stain debris, and other kinds of background noises). Due to the possible overlap of the chromosomes, a classification criterion was used to identify the overlapped chromosomes and adjust the initially counted number of the total chromosomes in each image. In this preliminary study with 60 testing images (depicting metaphase chromosome cells) acquired from three pediatric patients, the computer scheme generated results matched with the diagnostic results provided by the clinical cytogeneticists. The results demonstrated the feasibility or potential of using a computerized method to replace the tedious and the reader-dependent diagnostic methods commonly used in genetic laboratories to date.

We report clinical and molecular cytogenetic studies in two patients with ring chromosome 9. Cytogenetics and fluorescent in situ hybridization (FISH) analysis using the p16 gene probe on 9p21, the ABL gene on 9q34, chromosome 9 alpha satellite‐centromeric probes, and TelVision 9p and 9q probes which identify subtelomere‐specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34).ish r(9)(305J7‐T7‐,p16+,ABL+, D9S325−) and 46XY,r(9)(p24q34).ish r(9)(305J7‐T7‐,p16+,ABL+, D9S325−). Based on FISH analysis at least 115 kb was deleted on terminal 9p, and at least 95 kb from terminal 9q. In comparison with other reports of r(9), deletion 9p, and deletion 9q, both patients had clinical characteristics of ring 9 and additional features of deletion 9q or deletion 9p syndrome. The variability between the two cases with r(9) despite similar breakpoints identified by GTG‐banding and FISH may be explained by submicroscopic differences between deletion breakpoints, ring instability, interaction of other genes on the phenotype, and variation in fetal environmental conditions. © 2005 Wiley‐Liss, Inc.

To date, most ring formations of chromosome 4 lose distal 4p and usually include the Wolf–Hirschhorn syndrome region [WHS]. We describe a case with r(4) in a girl who presented without features of WHS; she had mild developmental delay, deafness, short stature, obesity, and the onset of type 2 diabetes in adolescence, a distinctive phenotype. Although 4p was significantly deleted on Giemsa banding, the 4p junction was distal to the WHS and FGFR3 but proximal to the D4S3360 marker. The 4q breakpoint was close to the telomere. The phenotype appears different from previous patients with 4p‐ or r(4), which have had more extensive 4p deletion. © 2005 Wiley‐Liss, Inc.

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic‐like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling. © 2004 Wiley‐Liss, Inc.

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare tumor of reproductive-age and postmenopausal women. We present the first case of UTROSCT with cytogenetic analysis. The tumor occurred in a 34-year-old woman who presented with menorrhagia and a uterine mass. Histologic examination showed tumor with features of sex cord-like epithelium and abundant fibromuscular stroma without an endometrial stromal sarcoma component. The tumor cells expressed cytokeratin, CD99, vimentin, desmin, smooth muscle actin, and estrogen and progesterone receptors. The majority of the cells analyzed by cytogenetic studies showed two balanced chromosomal translocations t(X;6)(p22.3;q23.1) and t(4;18)(q21.1;q21.3). Several known tumor-related genes (bcl-2, MALT-1, FVT1, SCCA1, SCCA2, and DCC at 18q21; RAP1 at 4q21; and STL at 6q23) and a gonadal-development related gene (H-Y regulator gene at Xp22.3) are located at or near the translocation breakpoints. The tumor cells of sex cord–like elements were strongly and diffusely immunoreactive for bcl-2 antibody. These cytogenetic and immunohistochemical data may suggest potential molecular mechanisms of tumorigenesis of UTROSCT.

A four-month-old white female, who was referred to us for genetic evaluation because of severe developmental delay, dysmorphic features, and bilateral cataracts, was found by routine cytogenetic analysis to have ring chromosome 16 in almost all cells analyzed. Ring chromosome 16 was confirmed and further delineated by fluorescence in situ hybridization (FISH). Breakpoints between loci D16S521 and KG8 on the short arm and D16S3121 and D16S303 on the long arm of chromosome 16 were determined by polymerase chain reaction (PCR) analysis. The deleted chromosome was of maternal origin. To our knowledge, this is the first case of ring chromosome 16 associated with bilateral cataracts. Comparison of previously reported cases with deletion of chromosome 16 and our case suggests the presence of cataract locus within 1 Mb of the terminus of 16q. © 2001 Wiley-Liss, Inc.

Purpose: To illustrate the use of bacterial artificial chromosome (BAC) clone panels for molecular cytogenetic analysis of complex chromosome rearrangements (CCRs).

We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major malformations. Am. J. Med. Genet. 80:487–490, 1998. © 1998 Wiley-Liss, Inc.

We report on two adolescent boys with Kenny-Caffey syndrome and microorchidism. The first patient had elevated levels of serum follicle-stimulating hormone, but normal levels of luteinizing hormone and testosterone. There was no evidence of a microdeletion of the Y chromosome. The second patient had Leydig cell hyperplasia with normal seminiferous tubules and spermatogenesis, and normal pituitary histologic findings at autopsy. The presence of microorchidism in these patients confirms the previous observations and suggests subfertility, but does not fully clarify the pathogenesis. Am. J. Med. Genet. 80:107–111, 1998. © 1998 Wiley-Liss, Inc.

Duplication within Xp21 causes female or intersexual development in human embryos with an XY chromosome complement. We have mapped the responsible gene, SRVX (sex reversal X), in XY-sex-reversed maternal half siblings who had inherited the duplication from their mother. The limited size of the duplication in our cases, relative to its extent in other similar cases, allows assignment of the SRVX locus to Xp21.2→p22.11. We infer that SRVX is part of a pathway of sex-determining genes that includes SRY and SRA1, the latter recently assigned to chromosome 17q. If mutation of SRA1 or SRVX can reverse the sex of the XY fetus, this would explain why mutation within SRY is found only sporadically in women with XY gonadal dysgenesis.

The clonal origin has sometimes been disputed in advanced epithelial cancers when multiple sites of peritoneal tumors were present because of the developmental similarity of the surface epithelium of the ovary and the peritoneal mesothelium. We have taken two independent approaches to study the clonality of advanced epithelial carcinoma. Tumor samples of both ovaries, and/or omentum, and/or peritoneum from nine patients were examined. The analysis of loss of heterozygosity (LOH) at 86 polymorphic chromosomal loci distributed on every chromosome revealed the loss of the same allele in every tumor of each patient when LOH was detected. In addition, we used a restriction-fragment-length polymorphism in an X-linked sequence (DXS255) to examine the pattern of X-chromosome inactivation based on the differential methylation of DXS255 in active and inactive X chromosomes. Inactivation of the same X chromosome in various tumors from the same patient was observed in each of the five informative patients. Our results strongly suggest that the advanced epithelial cancers are monoclonal in origin. Copyright 1993, 1999 Academic Press

Dicentrics are among the most common structural abnormalities of the human Y chromosome. Predicting the phenotypic consequences of different duplications and deletions of dicentric Y chromosomes is usually complicated by varying degrees of mosaicism (45,X cell lines), which may, in some cases, remain undetected. Molecular studies in patients with dicentric Y chromosomes have been few, and only two studies have attempted to determine the presence of SRY (the putative testis-determining factor gene). We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y)(p11.32)/47,X,idic(Y)(p11.32),idic(Y) (p11.32) karyotype. Southern analysis using Y-specific probes (Y97, 2D6, 1F5, pY3.4) and polymerase chain reaction (PCR) analysis using primers for ZFY and SRY were positive for all loci tested, indicating that almost all of the Y chromosome was present. Our findings and an extensive review of the literature emphasize the importance of molecular analyses of abnormal Y chromosomes before any general conclusions can be reached concerning the relative effects of the Y-chromosome abnormality and mosaicism on sexual differentiation.

Several potent neutralizing antibodies against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus have been identified. However, antibody-dependent enhancement (ADE) has not been comprehensively studied for SARS-CoV-2, and the relationship between enhancing versus neutralizing activities and antibody epitopes remains unknown. Here, we select a convalescent individual with potent IgG neutralizing activity and characterize his antibody response. Monoclonal antibodies isolated from memory B cells target four groups of five non-overlapping receptor-binding domain (RBD) epitopes. Antibodies to one group of these RBD epitopes mediate ADE of entry in Raji cells via an Fcγ receptor-dependent mechanism. In contrast, antibodies targeting two other distinct epitope groups neutralize SARS-CoV-2 without ADE, while antibodies against the fourth epitope group are poorly neutralizing. One antibody, XG014, potently cross-neutralizes SARS-CoV-2 variants, as well as SARS-CoV-1, with respective IC50(50% inhibitory concentration) values as low as 5.1 and 23.7 ng/mL, while not exhibiting ADE. Therefore, neutralization and ADE of human SARS-CoV-2 antibodies correlate with non-overlapping RBD epitopes.

MXene sheets, as new 2D nanomaterials, have been used in many advanced applications due to their superior thin-layered architecture, as well as their capability to be employed as novel nanocontainers for advanced applications. In this research, intercalated Ti3C2MXene sheets were synthesized through an etching method, and then they were modified with 3-aminopropyltriethoxysilane (APTES). Cerium cations (Ce3+) as an eco-friendly corrosion inhibitor were encapsulated within Ti3C2MXene sheets to fabricate novel self-healing epoxy nanocomposite coatings. The corrosion protection performance (CPP) of Ce3+-doped Ti3C2MXene nanosheets (Ti3C2MXene-Ce3+) in a 3.5 wt % sodium chloride (NaCl) solution was studied on bare mild steel substrates using electrochemical impedance spectroscopy (EIS) and potentiodynamic polarization measurements. The self-healing CPP of epoxy coatings loaded with 1 wt % undoped and doped Ti3C2MXene was evaluated using EIS, salt spray, and field emission scanning electron microscopy (FE-SEM) techniques. The introduction of Ti3C2MXene-Ce3+into the corrosive solution and artificially scribed epoxy coating enhanced the total impedance from 717 to 6596 Ω cm2and 8876 to 32092 Ω cm2, respectively, after 24 h of immersion compared to the control samples.