Hypo-attenuating Berry Sign as a Novel Imaging Marker of Ruptured Aneurysm in Patients with Subarachnoid Hemorrhage; a Diagnostic Accuracy Study.

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

A Wnt10a-Notch signaling axis controls Hertwig's epithelial root sheath cell behaviors during root furcation patterning.

Human with bi-allelic WNT10A mutations and epithelial Wnt10a knockout mice present enlarged pulp chamber and apical displacement of the root furcation of multi-rooted teeth, known as taurodontism; thus, indicating the critical role of Wnt10a in tooth root morphogenesis. However, the endogenous mechanism by which epithelial Wnt10a regulates Hertwig's epithelial root sheath (HERS) cellular behaviors and contributes to root furcation patterning remains unclear. In this study, we found that HERS in the presumptive root furcating region failed to elongate at an appropriate horizontal level in K14-Cre;Wnt10afl/fl mice from post-natal day 0.5 (PN0.5) to PN4.5. EdU assays and immunofluorescent staining of cyclin D1 revealed significantly decreased proliferation activity of inner enamel epithelial (IEE) cells of HERS in K14-Cre;Wnt10afl/fl mice at PN2.5 and PN3.5. Immunofluorescent staining of E-Cadherin and acetyl-α-Tubulin demonstrated that the IEE cells of HERS tended to divide perpendicularly to the horizontal plane, which impaired the horizontal extension of HERS in the presumptive root furcating region of K14-Cre;Wnt10afl/fl mice. RNA-seq and immunofluorescence showed that the expressions of Jag1 and Notch2 were downregulated in IEE cells of HERS in K14-Cre;Wnt10afl/fl mice. Furthermore, after activation of Notch signaling in K14-Cre;Wnt10afl/fl molars by Notch2 adenovirus and kidney capsule grafts, the root furcation defect was partially rescued. Taken together, our study demonstrates that an epithelial Wnt10a-Notch signaling axis is crucial for modulating HERS cell proper proliferation and horizontal-oriented division during tooth root furcation morphogenesis.

Adsorbents prepared from epoxy-based porous materials of microcrystalline cellulose for excellent adsorption of anionic and cationic dyes.

It reported a porous material prepared from microcrystalline cellulose (MCC), to achieve rapid preparation of adsorbents. The porous material was characterized by several tools including 1H NMR, FTIR, XPS, and SEM. Two adsorbents were prepared and subjected to adsorption experiments. Dye adsorption experiments show that the adsorption driving is electrostatic interactions and the process is chemisorption. The maximum capacity of Microcrystalline cellulose-g-Poly (glycidyl methacrylate)-Tannins (MPT) reached 191.3 (Methylene blue), 123.7 mg g-1 (Rhodamine B), and Microcrystalline cellulose-g-Poly (glycidyl methacrylate)-Lysine (MPL) attained 425.8 (Methylene blue), 480.7 mg g-1 (Methyl orange). The results were followed the pseudo-second-order (PSO) and agreed with the Langmuir fit model. Adsorption-desorption cycling experiments further indicate that the adsorbent possesses outstanding reproducibility. At last, epoxidized bio-porous materials are positive in the preparation of dye adsorbents with critical adsorption properties.

Ultraviolet Circularly Polarized Luminescence in Chiral Perovskite Nanoplatelet-Molecular Hybrids: Direct Binding Versus Efficient Triplet Energy Transfer.

The development of ultraviolet circularly polarized light (UVCPL) sources has the potential to benefit plenty of practical applications but remains a challenge due to limitations in available material systems and a limited understanding of the excited state chirality transfer. Herein, by constructing hybrid structures of the chiral perovskite CsPbBr3 nanoplatelets and organic molecules, excited state chirality transfer is achieved, either via direct binding or triplet energy transfer, leading to efficient UVCPL emission. The underlying photophysical mechanisms of these two scenarios are clarified by comprehensive optical studies. Intriguingly, UVCPL realized via the triple energy transfer, followed by the triplet-triplet annihilation upconversion processes, demonstrates a 50-fold enhanced dissymmetry factor glum . Furthermore, stereoselective photopolymerization of diacetylene monomer is demonstrated by using such efficient UVCPL. This study provides both novel insights and a practical approach for realizing UVCPL, which can also be extended to other material systems and spectral regions, such as visible and near-infrared.

Pipkin Type I and II femoral head fractures: internal fixation or excision?-from the hip arthroscopy perspective.

The treatment of patients with femoral head fractures with regard to fixation versus excision is controversial. This study aimed to compare the results of fixation and excision in hip arthroscopy-assisted surgery. This retrospective study included adult patients with femoral head fractures who were treated with hip arthroscopy surgery from March 2016 to April 2020, with a minimum follow-up of 24 months. The patients were divided into two groups: Group 1 (fixation group) and Group 2 (excision group). To compare the therapeutic effects between the two groups, clinical and radiographic outcomes, operative time, pain score, length of hospital stay after surgery and related complications were investigated. There were 13 (mean duration, 47.5 months; range, 24-72 months) and 8 (mean duration, 48.6 months; range, 26-74 months) patients in the fixation and excision groups, respectively. The excision group had better functional results than the fixation group in terms of the median modified Harris hip score (P = 0.009). No significant differences were observed in operative time, pain score or hospital stay after surgery between the two groups. Further, no osteonecrosis of the femoral head or traumatic arthritis occurred in either group. A piece of fracture fragment >2 cm can be considered for hip arthroscopy-assisted internal fixation, whereas the others can be removed. The excision group had better outcomes than the fixation group. Hence, hip arthroscopy-assisted internal fixation or excision of bony fragments led to satisfactory short-term clinical and radiological results for the treatment of Pipkin Type I and II femoral head fractures.

Differentiable Integrated Motion Prediction and Planning With Learnable Cost Function for Autonomous Driving.

Predicting the future states of surrounding traffic participants and planning a safe, smooth, and socially compliant trajectory accordingly are crucial for autonomous vehicles (AVs). There are two major issues with the current autonomous driving system: the prediction module is often separated from the planning module, and the cost function for planning is hard to specify and tune. To tackle these issues, we propose a differentiable integrated prediction and planning (DIPP) framework that can also learn the cost function from data. Specifically, our framework uses a differentiable nonlinear optimizer as the motion planner, which takes as input the predicted trajectories of surrounding agents given by the neural network and optimizes the trajectory for the AV, enabling all operations to be differentiable, including the cost function weights. The proposed framework is trained on a large-scale real-world driving dataset to imitate human driving trajectories in the entire driving scene and validated in both open-loop and closed-loop manners. The open-loop testing results reveal that the proposed method outperforms the baseline methods across a variety of metrics and delivers planning-centric prediction results, allowing the planning module to output trajectories close to those of human drivers. In closed-loop testing, the proposed method outperforms various baseline methods, showing the ability to handle complex urban driving scenarios and robustness against the distributional shift. Importantly, we find that joint training of planning and prediction modules achieves better performance than planning with a separate trained prediction module in both open-loop and closed-loop tests. Moreover, the ablation study indicates that the learnable components in the framework are essential to ensure planning stability and performance. Code and Supplementary Videos are available at https://mczhi.github.io/DIPP/.

Artifact removal for unpaired thorax CBCT images using a feature fusion residual network and contextual loss.

BACKGROUND AND OBJECTIVE: Cone-beam computed tomography (CBCT) has become a more and more active cutting-edge topic in the international computed tomography (CT) research due to its advantages of fast scanning speed, high ray utilization rate and high precision. However, scatter artifacts affect the imaging performance of CBCT, which hinders its application seriously. Therefore, our study aimed to propose a novel algorithm for scatter artifacts suppression in thorax CBCT based on a feature fusion residual network (FFRN), where the contextual loss was introduced to adapt the unpaired datasets better. METHODS: In the method we proposed, a FFRN with contextual loss was used to reduce CBCT artifacts in the region of chest. Unlike L1 or L2 loss, the contextual loss function makes input images which are not aligned strictly in space available, so we performed it on our unpaired datasets. The algorithm aims to reduce artifacts via studying the mapping between CBCT and CT images, where the CBCT images were set as the beginning while planning CT images as the end. RESULTS: The proposed method effectively removes artifacts in thorax CBCT, including shadow artifacts and cup artifacts which can be collectively referred to as uneven grayscale artifacts, in the CBCT image, and perform well in preserving details and maintaining the original shape. In addition, the average PSNR number of our proposed method achieved 27.7, which was higher than the methods this paper referred which indicated the significance of our method. CONCLUSIONS: What is revealed by the results is that our method provides a highly effective, rapid, and robust solution for the removal of scatter artifacts in thorax CBCT images. Moreover, as is shown in Table 1, our method has demonstrated better artifact reduction capability than other methods.

BMPR2 Variants Underlie Nonsyndromic Oligodontia.

Oligodontia manifests as a congenital reduction in the number of permanent teeth. Despite the major efforts that have been made, the genetic etiology of oligodontia remains largely unknown. Bone morphogenetic protein receptor type 2 (BMPR2) variants have been associated with pulmonary arterial hypertension (PAH). However, the genetic significance of BMPR2 in oligodontia has not been previously reported. In the present study, we identified a novel heterozygous variant (c.814C > T; p.Arg272Cys) of BMPR2 in a family with nonsyndromic oligodontia by performing whole-exome sequencing. In addition, we identified two additional heterozygous variants (c.1042G > A; p.Val348Ile and c.1429A > G; p.Lys477Glu) among a cohort of 130 unrelated individuals with nonsyndromic oligodontia by performing Sanger sequencing. Functional analysis demonstrated that the activities of phospho-SMAD1/5/8 were significantly inhibited in BMPR2-knockout 293T cells transfected with variant-expressing plasmids, and were significantly lower in BMPR2 heterozygosity simulation groups than in the wild-type group, indicating that haploinsufficiency may represent the genetic mechanism. RNAscope in situ hybridization revealed that BMPR2 transcripts were highly expressed in the dental papilla and adjacent inner enamel epithelium in mice tooth germs, suggesting that BMPR2 may play important roles in tooth development. Our findings broaden the genetic spectrum of oligodontia and provide clinical and genetic evidence supporting the importance of BMPR2 in nonsyndromic oligodontia.

Study of the Interfacial Oxidation of InP Quantum Dots Synthesized from Tris(dimethylamino)phosphine.

InP quantum dots (QDs) are the most competitive in terms of environmentally friendly QDs. However, the synthesis of InP QDs requires breakthroughs in low-cost and safe phosphorus precursors such as tri(dimethylamino)phosphine [(DMA)3P]. It is found that even if the oxygen is completely avoided, there are still oxidation state defects at the core/shell interface of InP QDs. Herein, the record-breaking (DMA)3P-based red InP QDs were synthesized with the assist of HF processing to eliminate the InPOx defect and improve the fluorescence efficiency. The maximum photoluminescence quantum yield was 97.7%, which is the highest of the red InP QDs synthesized by the aminophosphine. The external quantum efficiency and brightness of the QD light-emitting diode device are also improved accordingly from 0.6% and 1276 cd·m-2 to 3.5% and 2355 cd·m-2, respectively.

A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome.

The goal of the current study was to identify the pathogenic gene variant in a Chinese family with Blepharocheilodontic (BCD) syndrome. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variant. The harmfulness of the variant was predicted by bioinformatics. We identified a novel heterozygous missense variant c.1198G>A (p.Asp400Asn) in the CDH1 gene in the proband and his mother with BCD syndrome. The sequencing results of three healthy individuals in this family are wild type. This result is consistent with familial co-segregation. According to ReVe, REVEL, CADD, gnomAD, dbSNP, and the classification of pathogenic variants with the standards of the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG), c.1198G>A (p.Asp400Asn) is predicted to be a likely pathogenic. We observed that variant c.1198G>A (p.Asp400Asn) was located in the extracellular cadherin-type repeats in CDH1. Amino acid sequence alignment of the CDH1 protein among multiple species showed that Asp400 was highly evolutionarily conserved. The conformational analysis showed that this variant might cause structural damage to the CDH1 protein. Phenotypic analysis revealed unique dental phenotypes in patients with BCD syndrome, such as oligodontia, conical-shaped teeth, and notching of the incisal edges. Our results broaden the variation spectrum of BCD syndrome and phenotype spectrum of CDH1, which can help with the clinical diagnosis, treatment, and genetic counseling in relation to BCD syndrome.

Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.

The goal of this study was to identify the pathogenic gene variants in patients with odonto-onycho-dermal dysplasia syndrome (OODD) or nonsyndromic tooth agenesis. Four unrelated individuals with tooth agenesis and their available family members were recruited. Peripheral blood was collected from four probands and five family members. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variants. The harmfulness of these variations was predicted by bioinformatics. We identified four biallelic variants of the WNT10A gene in four patients, respectively: the proband#660: c.1176C > A (p.Cys392*) and c.812G > A (p.Cys271Tyr); the proband#681: c.637G > A (p.Gly213Ser) and c.985C > T (p.Arg329*); the proband#829: c.511C > T (p.Arg171Cys) and c.637G > A (p.Gly213Ser); and the proband#338: c.926A> G (p.Gln309Arg) and c.511C > T (p.Arg171Cys). Among them, two variants (c.812G > A; p.Cys271Tyr and c.985C > T; p.Arg329*) were previously unreported. Bioinformatics analysis showed that the pathogenicity of these six variants was different. Tertiary structure analysis showed that these variants were predicted to cause structural damage to the WNT10A protein. Genotype−phenotype analysis showed that the biallelic variants with more harmful effects, such as nonsense variants, caused OODD syndrome (#660 Ⅱ-1) or severe nonsyndromic tooth agenesis (NSTA) (#681 Ⅱ-1); the biallelic variants with less harmful effects, such as missense variants, caused a mild form of NSTA (#829 Ⅱ-2 and #338 Ⅱ-1). Individuals with a heterozygous variant presented a mild form of NSTA or a normal state. Our results further suggest the existence of the dose dependence of WNT10A pathogenicity on the tooth agenesis pattern, which broadens the variation spectrum and phenotype spectrum of WNT10A and could help with clinical diagnosis, treatment, and genetic counseling.

Hot-Injection Synthesis Protocol for Green-Emitting Cesium Lead Bromide Perovskite Nanocrystals.

All-inorganic cesium lead bromide (CsPbBr3) nanocrystals are one of the prominent members of the metal halide perovskite family of semiconductor materials, which possess considerable stability and excellent optoelectronic properties leading to a multitude of their potential applications in solar cells, light-emitting devices, photodetectors, and lasers. Hot-injection strategy is a popular method used to synthesize CsPbBr3 nanocrystals, which provides a convenient route to produce them in the shape of rather monodisperse nanocubes. As in any synthetic procedure, there are different factors like temperature, surface ligands, precursor concentration, as well as necessary postpreparation purification steps. Herein, we provide a comprehensive hot-injection synthesis protocol for CsPbBr3 nanocrystals, outlining intrinsic and extrinsic factors that affect its reproducibility and elucidating in detail the precursor solution preparation, nanocrystal formation and growth, and postpreparative purification and storage conditions to allow for the fabrication of high-quality green-emitting material.

Revealing the Hidden Mechanism of Enhanced Responsivity of Doped p-i-n Perovskite Photodiodes via Coupled Opto-Electronic Model.

Organic-inorganic halide perovskites have demonstrated preeminent optoelectronic performance in recent years due to their unique material properties, and have shown great potential in the field of photodetectors. In this study, a coupled opto-electronic model is constructed to reveal the hidden mechanism of enhancing the performance of perovskite photodetectors that are suitable for both inverted and regular structure doped p-i-n perovskite photodiodes. Upon illumination, the generation rate of photogenerated carriers is calculated followed by carrier density distribution, which serves as a coupled joint to further analyze the recombination rate, electric field strength, and current density of carriers under different doping types and densities. Moreover, experiments were carried out in which the doping types and densities of the active layer were regulated by changing the precursor ratios. With optimal doping conditions, the inverted and regular perovskite photodiodes achieved an external quantum efficiency of 74.83% and 73.36%, and a responsivity of 0.417 and 0.404 A/W, respectively. The constructed coupled opto-electronic model reveals the hidden mechanism and along with the doping strategy, this study provides important guidance for further analysis and improvement of perovskite-based photodiodes.

Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern.

The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic gene variants. The harmfulness of these variations was predicted by bioinformatics. Then, skewed X-chromosome inactivation (XCI) was measured by PCR analysis of the CAG repeat region in the human androgen receptor (AR) gene in peripheral blood cells. Two novel Ectodysplasin-A (EDA) heterozygous variants (c.588_606del19bp and c.837G>A) and one heterozygous variant (c.1045G>A, rs132630317) were identified in the three female XLHED patients. The bioinformatics analysis showed that these variants might be pathogenic. The tertiary structure analysis showed that these variants could cause structural damage to EDA proteins. Analysis of the skewed X-chromosome inactivation revealed that extreme skewed X-chromosome inactivation was found in patient #35 (98:2), whereas it was comparatively moderate in patients #347 and #204 (21:79 and 30:70). Our results broaden the variation spectrum of EDA and the phenotype spectrum of XLHED, which could help with clinical diagnosis, treatment, and genetic counseling.

Clinical and radiologic outcomes of the modified phemister procedure with coracoclavicular ligament augmentation using mersilene tape versus hook plate fixation for acute acromioclavicular joint dislocation.

BACKGROUND: The clinical superiority of surgical treatment for acromioclavicular (AC) joint dislocation remains controversial. The aim of this study was to compare the clinical and radiological outcomes of the modified Phemister procedure with CC ligament augmentation using Mersilene tape to those of hook plate fixation for acute AC joint dislocation. METHODS: In this study, patients who received modified Phemister surgery with CC ligament augmentation using Mersilene tape (PM group) or hook plate fixation (HK group) for acute unstable AC joint dislocation with a minimum 5-year follow-up period were retrospectively reviewed. The clinical outcomes were evaluated according to blood loss during surgery, surgical duration, visual analogue scale (VAS), Constant-Murley score (CMS), University of California at Los Angeles (UCLA) shoulder rating scale, and the occurrence of complications. Radiological outcomes were assessed from radiographs according to multiple parameters, including CC distance maintenance, acromion osteolysis, and the presence of distal clavicle osteolysis. RESULTS: A total of 35 patients completed follow-up for more than 5 years and were analyzed in this study (mean = 74.08 months). There were 18 patients in the PM group and 17 in the HK group. The PM group exhibited similar improvement in functional outcome to the HK group. Regarding radiological outcomes, the HK group had a superior performance in terms of CC distance maintenance, of statistical significance (CCDR: 94.29 ± 7.01% versus 111.00 ± 7.69%, p < 0.001) after a one-year follow-up period. However, there were 4 cases of acromion osteolysis and 2 cases of distal clavicle osteolysis in the HK group. CONCLUSION: Hook plate fixation was found to be superior to the modified Phemister technique with CC ligament augmentation using Mersilene tape in terms of CC distance maintenance, but there was no significant difference in the functional outcome after 5 years of follow-up. Both surgical methods are reliable options for the treatment of acute AC joint dislocation. Modified Phemister surgery with CC ligament augmentation using Mersilene tape is a relatively lower-cost option for acute AC joint dislocation without the need of a second surgery for implant removal.

KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.

Keratinocyte differentiation factor 1 (KDF1) is a recently identified and rare candidate gene for human tooth agenesis; however, KDF1-related morphological characteristics and pathological changes in dental tissue and the oral epithelium remain largely unknown. Here, we employed whole-exome sequencing (WES) and Sanger sequencing to screen for the suspected variants in a cohort of 151 tooth agenesis patients, and we segregated a novel KDF1 heterozygous missense variation, c.920G>C (p.R307P), in a non-syndromic tooth agenesis family. Essential bioinformatics analyses and tertiary structural predictions were performed to analyze the structural changes and functional impacts of the novel KDF1 variant. The subsequent functional assessment using a TOP-flash/FOP-flash luciferase reporter system demonstrated that KDF1 variants suppressed the activation of canonical Wnt signaling in 293T cells. To comprehensively investigate the KDF1-related oral morphological anomalies, we performed scanning electron microscopy and ground section of the lower right lateral deciduous incisor extracted from #285 proband, and histopathological assessment of the gingiva. The phenotypic analyses revealed a series of tooth morphological anomalies related to the KDF1 variant R307P, including a shovel-shaped lingual surface of incisors and cornicione-shaped marginal ridges with anomalous morphological occlusal grooves of premolars and molars. Notably, keratinized gingival epithelium abnormalities were revealed in the proband and characterized by epithelial dyskeratosis with residual nuclei, indistinct stratum granulosum, epithelial hyperproliferation, and impaired epithelial differentiation. Our findings revealed new developmental anomalies in the tooth and gingival epithelium of a non-syndromic tooth agenesis individual with a novel pathogenic KDF1 variant, broadening the phenotypic spectrum of KDF1-related disorders and providing new evidence for the crucial role of KDF1 in regulating human dental and oral epithelial development.

Rare compound heterozygous variants of LAMB3 and histological features of enamel and oral mucosa.

Junctional epidermolysis bullosa (JEB) is a group of autosomal recessive disorders characterized by amelogenesis imperfecta (AI) and fragility of the skin and mucous membranes. The purpose of this study was to identify pathogenic gene variants and investigate the phenotypic characteristics of abnormal enamel structure and mucocutaneous lesions in a patient with JEB. Clinical examination of the patient revealed hypoplastic AI, skin lesions, and oral ulcers, whereas her parents were normal. Whole-exome sequencing (WES) and cDNA cloning identified compound heterozygous variants of LAMB3 in the proband: c.125G>C in exon 3, c.1288 + 1G>A in intron 11, and c.1348C>T in exon 12. Among these, c.125G>C was inherited from her father, and the other two variants were inherited from her mother. Functional prediction indicated that the variants might change protein structure and cause disease. Scanning electron microscopy (SEM) examination of the primary and permanent teeth revealed abnormal enamel morphology and microstructures. Hematoxylin-eosin (HE) and immunofluorescence (IF) staining showed significantly abnormal and disorganized epithelial cells in the gingival mucosa. Our results showed that this was a case of intermediate JEB1A (OMIM #226650) with autosomal recessive inheritance. The proband carried rare compound heterozygous variants of LAMB3. Our results broaden the variant spectrum of the LAMB3 gene and JEB cases. Moreover, this is the first study to identify histological malformations of the primary teeth and oral mucosa in LAMB3-related patients.

Enhancing the stability of environmental resistance of alloyed CdZnSeS@ZnS quantum dots by doping Ti ions into shell layer.

Colloidal quantum dots (QDs) are promising luminescent materials for display and lighting, but their stability has long been an issue. Here, we designed a passivation strategy of doping Ti ions into the shell of alloyed CdZnSeS@ZnS QDs. The results showed that Ti ions were successfully doped into the ZnS shell and the stability of QDs was improved. In the aging test, the Ti ions doped QDs maintained 51.4% of the initial performance after 90 h of aging, while the pristine QDs decreased to less than 25% of the initial value. In addition, we discuss the reasons why Ti ions doping improves the stability of QDs. Ti ions are found to form Ti-S bonds in the ZnS shell, which has high binding energy and strong oxidation resistance. Most importantly, since there is no external physical insulating coating, the optimized QDs can also be directly used in electroluminescent devices, showing great potential in electroluminescence applications.

Design and Fabrication of a Liver-on-a-chip Reconstructing Tissue-tissue Interfaces.

Despite the rapid advances in the liver-on-a-chip platforms, it remains a daunting challenge to construct a biomimetic liver-on-a-chip for in vitro research. This study aimed to reconstruct the tissue-tissue interfaces based on bilayer microspheres and form vascularized liver tissue. Firstly, we designed a tri-vascular liver-on-a-chip (TVLOC) comprising a hepatic artery, a portal vein and a central vein, and theoretically analyzed the distribution of velocity and concentration fields in the culture area. Secondly, we designed a bilayer microsphere generating microsystem based on the coaxial confocal principle, which is primarily used to produce bilayer microspheres containing different kinds of cells. Finally, the bilayer microspheres were co-cultured with endothelial cells in the cell culture area of the TVLOC to form vascularized liver tissue, and the cell viability and vascular network growth were analyzed. The results revealed that the TVLOC designed in this study can provide a substance concentration gradient similar to that of the liver microenvironment, and the bilayer microspheres can form a three-dimensional (3D) orderly liver structure with endothelial cells. Such a liver-on-a-chip is capable of maintaining the function of hepatocytes (HCs) pretty well. This work provides full insights into further simulation of the liver-on-a-chip.

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns.

The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified pathogenic gene variants by whole-exome sequencing (WES) and Sanger sequencing and then studied the effects of these variants on function by bioinformatics analysis and in vitro experiments. Four novel PAX9 heterozygous variants were identified: two missense variants (c.191G > T (p.G64V) and c.350T > G (p.V117G)) and two frameshift variants (c.352delC (p.S119Pfs*2) and c.648_649insC(p.Y217Lfs*100)). The bioinformatics analysis showed that these variants might be pathogenic. The tertiary structure analysis showed that these four variants could cause structural damage to PAX9 proteins. In vitro functional studies demonstrated that (1) the p.Y217Lfs*100 variant greatly affects mRNA stability, thereby affecting endogenous expression; (2) the p. S119Pfs* 2 variant impairs the subcellular localization of the nuclear expression of the wild-type PAX9 protein; and (3) the four variants (p.G64V, p.V117G, p.S119Pfs*2, and p.Y217Lfs*100) all significantly affect the downstream transcriptional activity of the BMP4 gene. In addition, we summarized and analyzed tooth missing positions caused by PAX9 variants and found that the maxillary second molar (84.11%) and mandibular second molar (84.11%) were the most affected tooth positions by summarizing and analyzing the PAX9-related non-syndromic tooth agenesis positions. Our results broaden the variant spectrum of the PAX9 gene related to non-syndromic tooth agenesis and provide useful information for future genetic counseling.