Screening and Analysis of SARS-CoV-2 Antibody Among Unvaccinated Blood Donors in Chongqing, China.

OBJECTIVE: To investigate the rate of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antibody among unvaccinated voluntary blood donors in Chongqing, and to provide evidence for epidemic surveillance. METHODS: A total of 10,208 voluntary blood donors from January 5 to January 20, 2021, in the Chongqing area were collected, and the SARS-CoV-2 immunoglobulin (Ig) G and IgM antibodies were detected by chemiluminescence, and the differences of antibody-positive rate in different gender, age, ABO blood group, and different risk areas were analyzed. RESULTS: Among 10208 blood donors, 10 were found to be positive for SARS-COV-2 IgG antibody, giving a positivity rate of SARS-COV-2 IgG at 0.10%, and 29 were positive for SARS-CoV-2 IgM antibody, with a positivity rate of SARS-CoV-2 IgM at 0.28%. There was no statistical difference in the positive rate of antibody among different genders, ages, and ABO blood types, but it was related to the number of confirmed coronavirus disease 2019 (COVID-19) cases in each city. CONCLUSIONS: The SARS-CoV-2 seroprevalence rate in Chongqing was low and correlated with the number of confirmed COVID-19 cases.

Comparison of the clinical outcomes between proximal femoral nail anti-rotation with cement enhancement and hemiarthroplasty among elderly osteoporotic patients with intertrochanteric fracture.

BACKGROUND: The proximal femoral nail anti-rotation (PFNA) with cement enhancement enhances the anchorage ability of internal fixation in elderly with osteoporotic intertrochanteric fracture. However, whether it is superior to hemiarthroplasty is still controversial. The present study aimed to determine which treatment has better clinical outcomes among older patients. METHODS: We retrospectively analyzed 102 elderly patients with osteoporosis who developed intertrochanteric fractures and underwent PFNA combined with cement-enhanced internal fixation (n = 52, CE group), and hemiarthroplasty (n = 50, HA group) from September 2012 to October 2018. All the intertrochanteric fractures were classified according to the AO/OTA classification. Additionally, the operative time, intraoperative blood loss, intraoperative and postoperative blood transfusion rates, postoperative weight-bearing time, hospitalization time, Barthel Index of Activities Daily Living, Harris score of hip function, visual analog (VAS) pain score, and postoperative complications were compared between the two groups. RESULTS: The CE group had significantly shorter operative time, lesser intraoperative blood loss, lower blood transfusion rate, and longer postoperative weight-bearing time than the HA group. The CE group had lower Barthel's Index of Activities of Daily Living, lower Harris' score, and higher VAS scores in the first and third months after surgery than the HA group, but no difference was observed between the two groups from 6 months to 12 months. There was no significant difference in the total post-operative complications between the two groups. CONCLUSION: The use of PFNA combined with a cement-enhanced internal fixation technique led to shorter operative time and lesser intraoperative blood loss and trauma in elderly patients as compared to HA.

Feasibility of a family-oriented mHealth intervention for Chinese Americans with type 2 diabetes: A pilot randomized control trial.

OBJECTIVES: To test the feasibility, acceptability, and potential efficacy of a mHealth intervention tailored for Chinese immigrant families with type 2 diabetes (T2D). METHODS: We conducted a pilot randomized controlled trial (RCT) with baseline, 3-, and 6-month measurements. Participating dyads, T2D patients and families/friends from NYC, were randomized into the intervention group (n = 11) or the wait-list control group (n = 12). Intervention includes 24 videos covering T2D self-management, behavioral techniques, and family-oriented sessions. Feasibility and acceptability were measured respectively by the retention rate and video watch rate, and a satisfaction survey. Patients' HbA1c, weight, and self-management were also assessed to test potential efficacy. RESULTS: Most T2D patients (n = 23; mean age 56.2±9.4 years; 52.2% male) and families/friends (n = 23, mean age 54.6±11.2 years; 52.2% female) had high school education or less (69.6% and 69.6%), annual household income < $25,000 (65.2% and 52.2%), and limited English proficiency (95.7% and 95.7%). The retention rates were not significantly different between the intervention and the control groups for both the patients (90.91% vs 83.3%, p = 0.589); and their families/friends (3-month: 90.9% vs 75%, p = 0.313; 6-month: 90.9% vs 83.3%, p = 0.589). The mean video watch rate was 76.8% (7%). T2D patients and families/friends rated satisfaction as 9.4 and 10 out of 10, respectively. Despite no between-group differences, the intervention group had significantly lower HbA1c (p = 0.014) and better self-management (p = 0.009), and lost 12 lbs. on average at 6 months (p = 0.079), compared to their baseline levels. CONCLUSIONS: A culturally-tailored, family-based mHealth intervention is feasible and acceptable among low-income, limited English-proficient Chinese families with T2D in NYC. Significant changes in HbA1c and self-management within the intervention group indicate this intervention may have potential efficacy. Given the small sample size of this study, a future RCT with adequate power is needed to test efficacy.

Joint-GWAS, Linkage Mapping, and Transcriptome Analysis to Reveal the Genetic Basis of Plant Architecture-Related Traits in Maize.

Plant architecture is one of the key factors affecting maize yield formation and can be divided into secondary traits, such as plant height (PH), ear height (EH), and leaf number (LN). It is a viable approach for exploiting genetic resources to improve plant density. In this study, one natural panel of 226 inbred lines and 150 family lines derived from the offspring of T32 crossed with Qi319 were genotyped by using the MaizeSNP50 chip and the genotyping by sequence (GBS) method and phenotyped under three different environments. Based on the results, a genome-wide association study (GWAS) and linkage mapping were analyzed by using the MLM and ICIM models, respectively. The results showed that 120 QTNs (quantitative trait nucleotides) and 32 QTL (quantitative trait loci) related to plant architecture were identified, including four QTL and 40 QTNs of PH, eight QTL and 41 QTNs of EH, and 20 QTL and 39 QTNs of LN. One dominant QTL, qLN7-2, was identified in the Zhangye environment. Six QTNs were commonly identified to be related to PH, EH, and LN in different environments. The candidate gene analysis revealed that Zm00001d021574 was involved in regulating plant architecture traits through the autophagy pathway, and Zm00001d044730 was predicted to interact with the male sterility-related gene ms26. These results provide abundant genetic resources for improving maize plant architecture traits by using approaches to biological breeding.

Coexistence of Ferroelectricity and Ferromagnetism in Atomically Thin Two-Dimensional Cr2S3/WS2 Vertical Heterostructures.

Two-dimensional (2D) heterostructures with ferromagnetism and ferroelectricity provide a promising avenue to miniaturize the device size, increase computational power, and reduce energy consumption. However, the direct synthesis of such eye-catching heterostructures has yet to be realized up to now. Here, we design a two-step chemical vapor deposition strategy to growth of Cr2S3/WS2 vertical heterostructures with atomically sharp and clean interfaces on sapphire. The interlayer charge transfer and periodic moiré superlattice result in the emergence of room-temperature ferroelectricity in atomically thin Cr2S3/WS2 vertical heterostructures. In parallel, long-range ferromagnetic order is discovered in 2D Cr2S3 via the magneto-optical Kerr effect technique with the Curie temperature approaching 170 K. The charge distribution variation induced by the moiré superlattice changes the ferromagnetic coupling strength and enhances the Curie temperature. The coexistence of ferroelectricity and ferromagnetism in 2D Cr2S3/WS2 vertical heterostructures provides a cornerstone for the further design of logic-in-memory devices to build new computing architectures.

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting.

Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to imprinting effects, low-level mosaic aneuploidies and homozygosity for pathogenic variants. In the present study, UPD events were detected in 5 women with FGR by trio exome sequencing (trio-WES) of a cohort of 150 FGR cases. Furthermore, noninvasive prenatal testing results of the 5 patients revealed a high risk of rare autosomal trisomy. Trio-WES showed no copy-number variations (CNVs) or nondisease-causing mutations associated with FGR. Among the 5 women with FGR, two showed gene imprinting, and two exhibited confined placental mosaicism (CPM) by copy number variant sequencing (CNV-seq). The present study showed that in FGR patients with UPD, the detection of imprinted genes and CPM could enhance the genetic diagnosis of FGR.

Robust multiferroic in interfacial modulation synthesized wafer-scale one-unit-cell of chromium sulfide.

Multiferroic materials offer a promising avenue for manipulating digital information by leveraging the cross-coupling between ferroelectric and ferromagnetic orders. Despite the ferroelectricity has been uncovered by ion displacement or interlayer-sliding, one-unit-cell of multiferroic materials design and wafer-scale synthesis have yet to be realized. Here we develope an interface modulated strategy to grow 1-inch one-unit-cell of non-layered chromium sulfide with unidirectional orientation on industry-compatible c-plane sapphire. The interfacial interaction between chromium sulfide and substrate induces the intralayer-sliding of self-intercalated chromium atoms and breaks the space reversal symmetry. As a result, robust room-temperature ferroelectricity (retaining more than one month) emerges in one-unit-cell of chromium sulfide with ultrahigh remanent polarization. Besides, long-range ferromagnetic order is discovered with the Curie temperature approaching 200 K, almost two times higher than that of bulk counterpart. In parallel, the magnetoelectric coupling is certified and which makes 1-inch one-unit-cell of chromium sulfide the largest and thinnest multiferroics.

Guiding the Path to Healing: CuO2 -Laden Nanocomposite Membrane for Diabetic Wound Treatment.

Diabetic chronic wounds pose significant clinical challenges due to their characteristic features of impaired extracellular matrix (ECM) function, diminished angiogenesis, chronic inflammation, and increased susceptibility to infection. To tackle these challenges and provide a comprehensive therapeutic approach for diabetic wounds, the first coaxial electrospun nanocomposite membrane is developed that incorporates multifunctional copper peroxide nanoparticles (n-CuO2 ). The membrane's nanofiber possesses a unique "core/sheath" structure consisting of n-CuO2 +PVP (Polyvinylpyrrolidone)/PCL (Polycaprolactone) composite sheath and a PCL core. When exposed to the wound's moist environment, PVP within the sheath gradually disintegrates, releasing the embedded n-CuO2 . Under a weakly acidic microenvironment (typically diabetic and infected wounds), n-CuO2 decomposes to release H2 O2 and Cu2+ ions and subsequently produce ·OH through chemodynamic reactions. This enables the anti-bacterial activity mediated by reactive oxygen species (ROS), suppressing the inflammation while enhancing angiogenesis. At the same time, the dissolution of PVP unveils unique nano-grooved surface patterns on the nanofibers, providing desirable cell-guiding function required for accelerated skin regeneration. Through meticulous material selection and design, this study pioneers the development of functional nanocomposites for multi-modal wound therapy, which holds great promise in guiding the path to healing for diabetic wounds.

Propelling Multi-Modal Therapeutics of PEEK Implants through the Power of NO evolving Covalent Organic Frameworks (COFs).

The design and fabrication of NO-evolving core-shell nanoparticles (denoted as NC@Fe), comprised of BNN6-laden COF@Fe3 O4 nanoparticles, are reported. This innovation extends to the modification of 3D printed polyetheretherketone scaffolds with NC@Fe, establishing a pioneering approach to multi-modal bone therapy tailored to address complications such as device-associated infections and osteomyelitis. This work stands out prominently from previous research, particularly those relying on the use of antibiotics, by introducing a bone implant capable of simultaneous NO gas therapy and photothermal therapy (PPT). Under NIR laser irradiation, the Fe3 O4 NP core (photothermal conversion agent) within NC@Fe absorbs photoenergy and initiates electron transfer to the loaded NO donor (BNN6), resulting in controlled NO release. The additional heat generated through photothermal conversion further propels the NC@Fe nanoparticles, amplifying the therapeutic reach. The combined effect of NO release and PPT enhances the efficacy in eradicating bacteria over a more extensive area around the implant, presenting a distinctive solution to conventional challenges. Thorough in vitro and in vivo investigations validate the robust potential of the scaffold in infection control, osteogenesis, and angiogenesis, emphasizing the timeliness of this unique solution in managing complicated bone related infectious diseases.

Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.

Complex chromosomal rearrangements (CCRs) can result in spontaneous abortions, infertility, and malformations in newborns. In this study, we explored a familial CCR involving chromosome 6 by combining optical genomic mapping (OGM) and molecular cytogenetic methodologies. Within this family, the father and the paternal grandfather were both asymptomatic carriers of an identical balanced CCR, while the two offspring with an unbalanced paternal-origin CCR and two microdeletions presented with clinical manifestation. The first affected child, a 5-year-old boy, exhibited neurodevelopmental delay, while the second, a fetus, presented with hydrops fetalis. SNP-genotype analysis revealed a recombination event during gamete formation in the father that may have contributed to the deletion in his offspring. Meanwhile, the couple's haplotypes will facilitate the selection of normal gametes in the setting of assisted reproduction. Our study demonstrated the potential of OGM in identifying CCRs and its ability to work with current methodologies to refine precise breakpoints and construct accurate haplotypes for couples with a CCR.

[Study of a fetus with confined placental mosaicism for trisomy 2 in conjunct with fetal uniparental disomy and a literature review].

OBJECTIVE: To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD). METHODS: Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq). RESULTS: The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23+4 weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq. CONCLUSION: T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.

Markerless head motion tracking and event-by-event correction in brain PET.

Objective.Head motion correction (MC) is an essential process in brain positron emission tomography (PET) imaging. We have used the Polaris Vicra, an optical hardware-based motion tracking (HMT) device, for PET head MC. However, this requires attachment of a marker to the subject's head. Markerless HMT (MLMT) methods are more convenient for clinical translation than HMT with external markers. In this study, we validated the United Imaging Healthcare motion tracking (UMT) MLMT system using phantom and human point source studies, and tested its effectiveness on eight18F-FPEB and four11C-LSN3172176 human studies, with frame-based region of interest (ROI) analysis. We also proposed an evaluation metric, registration quality (RQ), and compared it to a data-driven evaluation method, motion-corrected centroid-of-distribution (MCCOD).Approach.UMT utilized a stereovision camera with infrared structured light to capture the subject's real-time 3D facial surface. Each point cloud, acquired at up to 30 Hz, was registered to the reference cloud using a rigid-body iterative closest point registration algorithm.Main results.In the phantom point source study, UMT exhibited superior reconstruction results than the Vicra with higher spatial resolution (0.35 ± 0.27 mm) and smaller residual displacements (0.12 ± 0.10 mm). In the human point source study, UMT achieved comparable performance as Vicra on spatial resolution with lower noise. Moreover, UMT achieved comparable ROI values as Vicra for all the human studies, with negligible mean standard uptake value differences, while no MC results showed significant negative bias. TheRQevaluation metric demonstrated the effectiveness of UMT and yielded comparable results to MCCOD.Significance.We performed an initial validation of a commercial MLMT system against the Vicra. Generally, UMT achieved comparable motion-tracking results in all studies and the effectiveness of UMT-based MC was demonstrated.

Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.

Objective: Mosaicism is a common biological phenomenon in organisms and has been reported in many types of chromosome abnormalities, including the absence of heterozygosity (AOH). Due to the detection limitations of the sequencing approach, mosaic AOH events are rarely assessed in clinical cases. Herein, we report the performance of mosaic AOH identification using a low-pass (5~8-fold) WGS method (termed 'CMA-seq', an abbreviation for 'Chromosome Analysis by Sequencing') in fetal genetic diagnosis. Methods: Thirty AOH-negative, eleven constitutional AOH, and three mosaic AOH samples were collected as training data sets to develop the algorithm and evaluate the suitable thresholds for distinguishing mosaic AOH. Twenty-four new chromosomal aberrant cases, along with sixteen constitutional AOH samples, which were previously ascertained via the SNP-array-based method, were used as a validation data set to measure the performance in terms of sensitivity and specificity of this algorithm. Results: A new statistic, 'D-value', was implemented to identify and distinguish constitutional and mosaic AOH events. The reporting thresholds for constitutional and mosaic AOH were also established. In the validation set consisting of 24 new cases, seven constitutional AOH cases and 1 mosaic AOH case were successfully identified, indicating that the results were consistent with those of the SNP-array-based method. The results of all sixteen constitutional AOH validation samples also met the threshold requirements. Conclusions: In this study, we developed a new bioinformatic algorithm to accurately distinguish mosaic AOH from constitutional AOH by low-pass WGS. However, due to the small sample size of the training data set, the algorithm proposed in this manuscript still needs further refinements.

Changes of cropping structure lead diversity decline in China during 1985-2015.

China's agriculture is in the transformation and development stage to adapt to the influences of climate change, technological progress and the requirements for resources and environmental protection. Optimization of cropping structure variation in the new stage is urgent. Our study systematically described the spatiotemporal variation in crop patterns in China from 1985 to 2015 and further analyzed the changes in cropping diversity and dominant cropping structure based on a county-level agricultural database. The results showed that the planted areas of staple crops and oil crops had expanded in three major grain-producing areas. Coarse crop planting has been gradually replaced by staple and oil crops. A slight increasing trend occurred in tuber crop planting in southwestern China, and fiber crop planting had already transferred from eastern to northwestern China. Moreover, cropping diversity has decreased in northern China, especially in the Northeast China Plain and North China Plain, while a slight increase has occurred in the south. Cropping structure has been simplified in past decades and it basically formed a single cropping structure dominated by staple or oil crops. Further cropping structure adjustments should focus on resource-saving, ecofriendly, intensive and efficient industrial coordination goals, adapting to the mechanization, scale and precision developments of agricultural production. It is important to develop a multifunctional innovative farming system and technology to ensure national food security.

Injectable mesoporous bioactive glass/sodium alginate hydrogel loaded with melatonin for intervertebral disc regeneration.

Intervertebral disc degeneration (IDD) is a major contributing factor to both lower back and neck pain. As IDD progresses, the intervertebral disc (IVD) loses its ability to maintain its disc height when subjected to axial loading. This failure in the weight-bearing capacity of the IVD is a characteristic feature of degeneration. Natural polymer-based hydrogel, derived from biological polymers, possesses biocompatibility and is able to mimic the structure of extracellular matrix, enabling them to support cellular behavior. However, their mechanical performance is relatively poor, thus limiting their application in IVD regeneration. In this study, we developed an injectable composite hydrogel, namely, Mel-MBG/SA, which is similar to natural weight-bearing IVD. Mesoporous bioactive glasses not only enhance hydrogels, but also act as carriers for melatonin (Mel) to suppress inflammation during IDD. The Mel-MBG/SA hydrogel further provides a mixed system with sustained Mel release to alleviate IL-1ß-induced oxidative stress and relieve inflammation associated with IDD pathology. Furthermore, our study shows that this delivery system can effectively suppress inflammation in the rat tail model, which is expected to further promote IVD regeneration. This approach presents a novel strategy for promoting tissue regeneration by effectively modulating the inflammatory environment while harnessing the mechanical properties of the material.

A hydrogel reservoir as a self-contained nucleus pulposus cell delivery vehicle for immunoregulation and repair of degenerated intervertebral disc.

The strategies for modulating the local inflammatory microenvironment to inhibit intervertebral disc degeneration (IVDD) have garnered significant interest in recent years. In this study, we developed a "self-contained" injectable hydrogel capable of storing Mg2+ while carrying nucleus pulposus (NP) cells, with the aim of inhibiting IVDD through immunoregulation. The hydrogel consists of sodium alginate (SA), poly(N-isopropylacrylamide) (PNIPAAm), silicate ceramics (SC), and NP cells. When injected into the NP site, PNIPAAm gelates instantly under body temperature, forming an interpenetrating network (IPN) hydrogel with SA. Ca2+ released from the SC can crosslink the SA in situ, forming a SA/PNIPAAm hydrogel with an interpenetrating network (IPN) encapsulating the NP cells. Moreover, inside the hydrogel, Mg2+ released from SC are effectively encapsulated and maintained at a desirable concentration. These Mg2+ facilitates the local cell matrix synthesis and promotes immunomodulation (upregulating M2 / downregulating M1 macrophage polarization), thus inhibiting the IVDD progression. The proposed hydrogel has biocompatibility and is shown to enhance the expression of collagen II (COL II) and aggrecan. The potential of the injectable hydrogel in IVD repair has also been successfully demonstrated by in vivo studies. STATEMENT OF SIGNIFICANCE.

Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.

BACKGROUND: Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds. CASE PRESENTATION: A woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 weeks. Autopsy confirmed DFIM with involvement of the heart and kidney. All cases of prenatally detected IM were reviewed, revealing an association of high mortality with DFIM. CONCLUSIONS: Prenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality. The germline p.R561C mutation in PDGFRB may cause fetal demise due to severe visceral involvement of IM. Prenatal genetic testing provides a diagnosis before pathological results are available, leading to better counseling and management of pregnancy with a fetus with IM.

Radially Electrospun Fibrous Membrane Incorporated with Copper Peroxide Nanodots Capable of Self-Catalyzed Chemodynamic Therapy for Angiogenesis and Healing Acceleration of Diabetic Wounds.

Vascular dysfunction severely hinders the healing process of diabetic wounds. Therefore, a radially structured fibrous membrane was fabricated through electrospinning by using a polycaprolactone (PCL) and polyvinylpyrrolidone (PVP) mixed solution containing copper peroxide nanoparticles (CPs) as the chemodynamic therapy (CDT) agents, aiming to simultaneously accelerate tissue regeneration and angiogenesis. The fabricated membrane allowed for the in situ H2O2 generation activated by the acidic diabetic microenvironment and the subsequent Fenton-type reactions to realize 99.4% elimination against Staphylococcus aureus. Besides, the released Cu2+ ions significantly enhanced the expression of hypoxia-inducible factor-1α (HIF-1α) and vascular endothelial growth factor (VEGF) in human umbilical vein endothelial cells (HUVECs), and they showed enhanced in vitro angiogenesis. Interestingly, the CP-embedded membrane also guided cell spreading and orientated migration of L929 fibroblasts along the fiber distribution through the radially aligned topology. The in vivo implantation indicated that the raidally structured membrane modified by CPs not only dramatically accelerated wound healing of diabetic Sprague-Dawley (SD) rats in 14 days but also promoted angiogenesis in wound sites. The combination of the in situ CDT with the radially structured morphology of the functional membrane is highly promising in applications to promote diabetic wound healing through anti-infection and revascularization.

The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.

(1) Background: Optical genome mapping (OGM) is a novel approach to identifying genomic structural variations with high accuracy and resolution. We report a proband with severe short stature caused by 46, XY, der (16) ins (16;15) (q23; q21.3q14) that was detected by OGM combined with other tests and review the clinical features of patients with duplication within 15q14q21.3; (2) Methods: OGM, whole exon sequencing (WES), copy number variation sequencing (CNV-seq), and karyotyping were used; (3) Results: The proband was a 10.7-year-old boy with a complaint of severe short stature (-3.41SDS) and abnormal gait. He had growth hormone deficiency, lumbar lordosis, and epiphyseal dysplasia of both femurs. WES and CNV-seq showed a 17.27 Mb duplication of chromosome 15, and there was an insertion in chromosome 16 found by karyotyping. Furthermore, OGM revealed that duplication of 15q14q21.3 was inversely inserted into 16q23.1, resulting in two fusion genes. A total of fourteen patients carried the duplication of 15q14q21.3, with thirteen previously reported and one from our center, 42.9% of which were de novo. In addition, neurologic symptoms (71.4%,10/14) were the most common phenotypes; (4) Conclusions: OGM combined with other genetic methods can reveal the genetic etiology of patients with the clinical syndrome, presenting great potential for use in properly diagnosing in the genetic cause of the clinical syndrome.

Construction of a Ni(OH)2@CaTiO3 heterostructure on a Ti implant for enhanced osseointegration through NIR photoactivated bacterial inactivation and microenvironment optimization.

Desirable antibacterial and osseointegration abilities are essentially important for long-term survival of a Ti-orthopedic implant. Herein, a near-infrared light (NIR) excited antibacterial platform with excellent osseointegration composed of perovskite calcium titanate/nickel hydroxide on a Ti implant (Ni(OH)2@CaTiO3/Ti) was designed and successfully fabricated. The construction of the heterostructure efficiently separated the photogenerated electron-hole pairs to produce sufficient reactive oxygen species (ROS), which enabled the photoactivated bacterial inactivation (PBI) of Ti implants. The results showed that the surface-modified Ti implant displayed remarkable antibacterial ability with bacterial inhibition rates of 95.5% for E. coli and 93.8% for S. aureus under NIR excitation. Also, the intervention of Ni(OH)2 could create a slightly alkaline surface on the Ti implant, which synchronized with Ca-rich CaTiO3 to regulate the osteogenic microenvironment in favor of the adhesion, proliferation and differentiation of MC3T3-E1 cells as well as the up-regulation of osteogenesis-related gene expressions. The in vivo implantation experiments further confirmed that the heterostructured coating prominently accelerated the formation of new bone and promoted the osseointegration of Ti implants. Our work may provide a novel concept for improving the antibacterial and osseointegration abilities of Ti implants in orthopedic and dental applications.