Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon. Here, we report two cases of CdLS associated with novel pathogenic variants in SMC3 from two Chinese families. METHODS: Clinical presentations of two patients with CdLS were evaluated, and specimens from the patients and other family members were collected for Trio-based whole-exome sequencing. Pyrosequencing, chip-based digital PCR, minigene splicing assay, and in silico analysis were carried out to elucidate the impact of novel variants. RESULTS: Novel heterozygous variants in SMC3 were identified in each proband. One harbored a novel splicing and mosaic variant (c.2535+1G>A) in SMC3. The mutated allele G>A conversion was approximately 23.1% by digital PCR, which indicated that 46.2% of peripheral blood cells had this variant. Additionally, in vitro minigene splicing analysis validated that the c.2535+1G>A variant led to an exon skipping in messenger RNA splicing. The other carried a heterozygous variant (c.435C>A), which was predicted to be pathogenic as well as significantly altered in local electrical potential. The former showed multiple abnormalities and marked clinical severity, and the latter mainly exhibited a speech developmental disorder and slightly facial anomalies. CONCLUSION: Both patients were clinically diagnosed with Cornelia de Lange syndrome 3 (CdLS3). The newly identified SMC3 gene variants can expand the understanding of CdLS3 and provide reliable evidence for genetic counseling to the affected family.

Research of wet string grid dust removal vehicle and creation of dust control area on tunnel working face.

The spread of blast dust throughout the tunnel becomes a common problem in drill and blast tunneling,the key to breaking through the problem is the creation of a dust control area on the working face.In view of this key problem, a wet string grid dust removal crawler vehicle was developed, the power of the vehicle came from the diesel generator, and further, the air cooler of the diesel generator was used to generate airflow, and the suction process formed by the on-board axial flow fan was coupled to create a dust control area of the working face after blasting.The results show that when the frequency of the axial flow fan is adjusted to 30 Hz, the airflow speed of the wet chord grid section reaches 3.34 m/s, and the dust removal efficiency is the highest, with a value of 94.3%.Compared with the non-use of the dust removal vehicle, when the air outlet of the air cooler is front, horizontal front, horizontal rear, the dust concentration is reduced by 74.37, 92.39 and 50.53%.Finally, the optimized wet grid dust removal crawler was installed in the Dading tunnel, and the actual dust reduction efficiency was about 78.49%. The results obtained provide an important technical way to improve the working environment of the drilling and blasting construction tunnel.

Comparative study of fault tree analysis and 24Model: taking the cause analysis of the Quanzhou Xinjia Hotel collapse accident as an example.

A comparative study was conducted to compare the accident cause analysis methods of fault tree analysis (FTA) and 24Model. A major accident - the Xinjia Hotel collapse accident - was selected as the research object, the causes of the accident were reanalysed and accident prevention countermeasures were designed based on 24Model and FTA, respectively, and the systematic characteristics of 24Model were summarized. The research shows that both 24Model and FTA can carry out risk assessment, accident cause analysis and preventive countermeasure design based on their own rules. Different from FTA, 24Model has static and dynamic structures of specific forms, the definition of causes and factors in the model is more comprehensive and the analysis method is more hierarchical and normative. 24Model can analyse the deep-level cultural and system causes, but the analysis process does not use quantitative methods, only qualitative methods. 24Model has eight systematic characteristics, such as integrity, hierarchy and dynamics.

ImTooth: Neural Implicit Tooth for Dental Augmented Reality.

The combination of augmented reality (AR) and medicine is an important trend in current research. The powerful display and interaction capabilities of the AR system can assist doctors to perform more complex operations. Since the tooth itself is an exposed rigid body structure, dental AR is a relatively hot research direction with application potential. However, none of the existing dental AR solutions are designed for wearable AR devices such as AR glasses. At the same time, these methods rely on high-precision scanning equipment or auxiliary positioning markers, which greatly increases the operational complexity and cost of clinical AR. In this work, we propose a simple and accurate neural-implicit model-driven dental AR system, named ImTooth, and adapted for AR glasses. Based on the modeling capabilities and differentiable optimization properties of state-of-the-art neural implicit representations, our system fuses reconstruction and registration in a single network, greatly simplifying the existing dental AR solutions and enabling reconstruction, registration, and interaction. Specifically, our method learns a scale-preserving voxel-based neural implicit model from multi-view images captured from a textureless plaster model of the tooth. Apart from color and surface, we also learn the consistent edge feature inside our representation. By leveraging the depth and edge information, our system can register the model to real images without additional training. In practice, our system uses a single Microsoft HoloLens 2 as the only sensor and display device. Experiments show that our method can reconstruct high-precision models and accomplish accurate registration. It is also robust to weak, repeating and inconsistent textures. We also show that our system can be easily integrated into dental diagnostic and therapeutic procedures, such as bracket placement guidance.

Multiprocessing Quantum Computing through Hyperfine Couplings in Endohedral Fullerene Derivatives.

Magnetic molecules have shown great potential in quantum information processing due to the chemical tunablity of their quantum behaviors. Chemical derivatives of endohedral nitrogen fullerenes with long coherence time and rich energy levels were synthesized and studied to demonstrate the ability of multiprocessing in quantum information using electron magnetic resonance. After initialization of the 12-levelled spin system, subgroups of spin energy levels coursed by the hyperfine couplings can be selectively manipulated. The cooperatively combining of the parallel calculations enabled quantum error correction, increasing the correct rate by up to 17.82 %. Also, different subgroups of transitions divided by hyperfine coupling can be treated as independent qubits, and multi-task quantum computing were realized by performing Z-gate and X-gate simultaneously, which accelerates the overall gating speed.

Research progress on the etiology, clinical examination and treatment of peri-implantitis / 口腔疾病防治

@#Peri-implantitis is an inflammatory disease that occurs around dental implants and damages both soft and hard tissues, the characteristic feature of which is bone loss. The major etiology of peri-implantitis is dental plaque, including implant overload implants, a history of periodontitis, smoking and diabetes as risk factors. The standards for the clinical diagnosis of peri-implantitis are bleeding on probing, suppuration, a peri-implant pocket depth ≥5 mm, and X-ray evidence. Treatment includes mechanical debridement, drug therapy, laser treatment and surgical treatment. Regular supportive peri-implant therapy can be effective for curing and preventing peri-implantitis. In this paper, the etiology, clinical examination and treatment of periodontitis are reviewed.

Clinical study of cerebral palsy in 408 children with periventricular leukomalacia.

This study aimed to investigate the high risk factors, cerebral palsy (CP) subtypes and comorbidities of periventricular leukomalacia (PVL). Based on treatment conditions at a specialist hospital, a cross-sectional clinical study and retrospective analysis of computed tomography and magnetic resonance imaging examinations was conducted to evaluate the risk factors, subtypes and comorbidities of CP in children with PVL. Among the 408 children with PVL, 8.58% were born with a weight of ≤1,500 g and 44.36% were born with a weight of ≥2,500 g. In addition, 36.76% of these children had a gestational age of ≤32 weeks and 37.75% had a gestational age of ≥37 weeks. The proportion of the children born with various high risk factors was 95.59%, including perinatal infections and hypoxia. Severe PVL was observed in preterm infants (63.41% with a gestational age of <28 weeks and 21.95% with a gestational age of 28-30 weeks) and low-birth weight infants, which were prone to quadriplegia (43.90%). The common comorbidities included visual and auditory disorders, epilepsy, mental retardation and language barriers. Visual and auditory disorders (26.96%) were the most common comorbidities. PVL was identified primarily in premature and low-birth weight infants. The degree of PVL was found to be negatively correlated with gestational age and birth weight. The degree of PVL in the full-term infants correlated with exposure to infections or hypoxia. Quadriplegia is common among the various subtypes of CP. Visual and hearing disorders are the most common comorbidities of CP; these comorbidities occurred most frequently with quadriplegia.

Dopamine depresses immunity in the tiger shrimp Penaeus monodon.

The total haemocyte count (THC), differential haemocyte count (DHC), phenoloxidase activity, respiratory bursts (release of superoxide anion), superoxide dismutase activity, phagocytic activity and clearance efficiency to the pathogen Photobacterium damsela were measured when tiger shrimp Penaeus monodon (13.5+/-1.5 g) were individually injected with saline or dopamine at 10(-8), 10(-7), or 10(-6)mol shrimp(-1). Results showed that a transient period of immunosuppression occurred between 2 and 8h after injection of dopamine for all immune parameters except circulating haemocytes, and all immune parameters had returned to control values within 8-16 h after receiving dopamine. The injection of dopamine also significantly increased the mortality of P. monodon challenged with the pathogen Pho. damsela. These results suggest that stress-inducing dopamine suppresses the immune system, which in turn promotes the susceptibility of P. monodon to Pho. damsela.