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1.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(6): 857-861, 2024 Jun 06.
Article in Chinese | MEDLINE | ID: mdl-38955733

ABSTRACT

Objective: To evaluate the disinfection effect of high-energy pulse ultraviolet disinfection equipment in medical institution settings. Methods: The disinfection effect was evaluated through field tests and laboratory tests. Among them, 135 high-frequency contact points were selected from nine departments in the field test. Samples were collected before and after disinfection, and the disinfection effects of 75% alcohol wipes wiping disinfection, high-energy pulse ultraviolet disinfection robot disinfection and high-energy pulse ultraviolet handheld disinfection instrument were compared. In the laboratory test, 30 infected areas of the simulated test table were exposed to vertical ultraviolet irradiation and the bacterial-killing rate before and after disinfection was calculated. Results: In the field test, the bacteria-killing rates of 75% alcohol wipes, high-energy pulse ultraviolet disinfection robot and high-energy pulse ultraviolet handheld disinfection instrument were 94.99%, 91.53% and 95.94%, respectively, and the difference was statistically significant. The disinfection effect of the high-energy pulse ultraviolet handheld disinfection instrument was better than that of the high-energy pulse ultraviolet disinfection robot (P values <0.05). In the laboratory test, the killing log value of Staphylococcus aureus and Escherichia coli on the carrier were both greater than 3.00. In the simulated field test, the killing log value of Staphylococcus aureus on the surface samples were 4.99. Conclusion: Both the high-energy pulse ultraviolet handheld disinfection instrument and the high-energy pulse ultraviolet disinfection robot have good disinfection effects, which are similar to the disinfection effects of conventional 75% alcohol wipes.


Subject(s)
Disinfection , Ultraviolet Rays , Disinfection/methods , Cross Infection/prevention & control
2.
Phys Rev Lett ; 132(23): 236401, 2024 Jun 07.
Article in English | MEDLINE | ID: mdl-38905662

ABSTRACT

Braiding is a geometric concept that manifests itself in a variety of scientific contexts from biology to physics, and has been employed to classify bulk band topology in topological materials. Topological edge states can also form braiding structures, as demonstrated recently in a type of topological insulators known as Möbius insulators, whose topological edge states form two braided bands exhibiting a Möbius twist. While the formation of Möbius twist is inspiring, it belongs to the simple Abelian braid group B_{2}. The most fascinating features about topological braids rely on the non-Abelianness in the higher-order braid group B_{N} (N≥3), which necessitates multiple edge bands, but so far it has not been discussed. Here, based on the gauge enriched symmetry, we develop a scheme to realize non-Abelian braiding of multiple topological edge bands. We propose tight-binding models of topological insulators that are able to generate topological edge states forming non-Abelian braiding structures. Experimental demonstrations are conducted in two acoustic crystals, which carry three and four braided acoustic edge bands, respectively. The observed braiding structure can correspond to the topological winding in the complex eigenvalue space of projective translation operator, akin to the previously established point-gap winding topology in the bulk of the Hatano-Nelson model. Our Letter also constitutes the realization of non-Abelian braiding topology on an actual crystal platform, but not based on the "virtual" synthetic dimensions.

3.
Nat Commun ; 15(1): 3787, 2024 May 06.
Article in English | MEDLINE | ID: mdl-38710685

ABSTRACT

The sublattice symmetry on a bipartite lattice is commonly regarded as the chiral symmetry in the AIII class of the tenfold Altland-Zirnbauer classification. Here, we reveal the spatial nature of sublattice symmetry and show that this assertion holds only if the periodicity of primitive unit cells agrees with that of the sublattice labeling. In cases where the periodicity does not agree, sublattice symmetry is represented as a glide reflection in energy-momentum space, which inverts energy and simultaneously translates some k by π, leading to substantially different physics. Particularly, it introduces novel constraints on zero modes in semimetals and completely alters the classification table of topological insulators compared to class AIII. Notably, the dimensions corresponding to trivial and nontrivial classifications are switched, and the nontrivial classification becomes Z 2 instead of Z . We have applied these results to several models, including the Hofstadter model both with and without dimerization.

4.
Article in Chinese | MEDLINE | ID: mdl-38677989

ABSTRACT

Objective: To investigate the clinical characteristics and prognosis of silicosis complicated with cavity-pulmonary tuberculosis. Methods: The clinical data of 63 patients with silicosis complicated with cavity-pulmonary tuberculosis (group A) and silicosis patients (group B) admitted to Yantaishan Hospital from July 2018 to July 2022 were collected and analyzed. Results: Patients in group A were all male, and the common symptoms were cough, expectoration, chest tightness, shortness of breath, and hemoptysis. CT cavity lesions involving the lung, often occurs in the lung after the tip section, after the back section and basal segment, thick-walled cavity, may be accompanied by satellite lesions, endobronchial spread focal, pneumothorax, pleural effusion, etc. 1225 cases of group B patients haemoptysis of 59 patients, cavity in 3 patients, haemoptysis and/or cavity rate was lower than that in group A, the difference was statistically significant (P<0.05) . In group A, CT reexamination 6-24 months after anti-tuberculosis treatment showed that 52 cases (82.5%) had cavity reduction/healing, 8 cases (12.7%) had recurrence, and 3 cases (4.8%) had damaged lung (2 died) . Conclusion: Silicosis patients with hemoptysis and/or CT in cavity should be more vigilant about combined tuberculosis, anti-tuberculosis treatment and/or dynamic CT follow-up helps laboratory diagnosis negative patients.


Subject(s)
Silicosis , Tuberculosis, Pulmonary , Humans , Silicosis/complications , Male , Tuberculosis, Pulmonary/complications , Follow-Up Studies , Middle Aged , Tomography, X-Ray Computed , Prognosis , Lung/diagnostic imaging , Lung/pathology , Hemoptysis/etiology , Antitubercular Agents/therapeutic use , Adult
5.
Zhonghua Liu Xing Bing Xue Za Zhi ; 45(1): 56-62, 2024 Jan 10.
Article in Chinese | MEDLINE | ID: mdl-38228525

ABSTRACT

Objective: To detect the prevalence of mosaic loss of chromosome Y in adult men in ten study areas in China, describe the epidemiological distribution of mosaic loss of chromosome Y (mLOY) carriers and assess its prospective association with lung cancer. Methods: Based on the data from baseline survey, genetic analysis and follow-up (as of December 31, 2018) from China Kadoorie Biobank, we used Mosaic Chromosomal Alterations pipeline to detect mLOY carriers in 10 areas in China and described the epidemiological characteristics of mLOY carriers in adult men, including age, area distribution, lifestyle and disease history. We used multivariate logistic regression model to identify the potential relevant factor of mLOY. Cox proportional hazard regression model was fitted to assess the prospective association of mLOY with lung cancer. Stratification analysis were conducted to evaluate the potential modification effects of smoking and age. We also conducted mediation analysis to assess the mediating effect of mLOY in the association between smoking and lung cancer. Results: A total of 42 859 adult men were included in our analysis, in whom 2 458 mLOY carriers were detected (5.7%). The detection rate increased with age (P<0.05). The detection rate was higher in urban area (7.3%±0.2%) than that in rural area (4.7%±0.1%). The results of logistic regression analysis indicated that smoking might be a risk factor for the detection of mLOY (OR=1.49, 95%CI:1.36-1.64). After follow-up for average 11.1 years, 1 041 lung cancer cases were observed. The prospective analysis showed that mLOY carriers had an increased risk for lung cancer by 24% compared with non-mLOY carriers (HR=1.24, 95%CI:1.01-1.52) and expanded mLOY carriers (mLOY cell proportion ≥10%) had an increased risk for lung cancer by 50% (HR=1.50, 95%CI:1.13-2.00). Stratification analysis showed no modification effects of smoking and age in the association between mLOY and lung cancer (interaction P>0.05). Mediation analysis showed that mLOY could be a mediating factor in the association between smoking and lung cancer, the estimated effect was 0.09 (0.01-0.17). Conclusions: There were significant differences in the detection rate of mLOY in adult men with different social-economic characteristics and lifestyles in ten areas in China. Besides, mLOY carriers, especially expanded mLOY carriers, had increased risk for lung cancer and mLOY might be a mediating factor in the association between smoking and lung cancer.


Subject(s)
Chromosomes, Human, Y , Lung Neoplasms , Adult , Humans , Male , Lung Neoplasms/epidemiology , Lung Neoplasms/genetics , Smoking , Mosaicism , Risk Factors , China/epidemiology
6.
Phys Rev Lett ; 131(17): 176402, 2023 Oct 27.
Article in English | MEDLINE | ID: mdl-37955479

ABSTRACT

Non-Hermiticity significantly enriches the concepts of symmetry and topology in physics. Particularly, non-Hermiticity gives rise to the ramified symmetries, where the non-Hermitian Hamiltonian H is transformed to H^{†}. For time-reversal (T) and sublattice symmetries, there are six ramified symmetry classes leading to novel topological classifications with various non-Hermitian skin effects. As artificial crystals are the main experimental platforms for non-Hermitian physics, there exists the symmetry barrier for realizing topological physics in the six ramified symmetry classes: while artificial crystals are in spinless classes with T^{2}=1, nontrivial classifications dominantly appear in spinful classes with T^{2}=-1. Here, we present a general mechanism to cross the symmetry barrier. With an internal parity symmetry P, the square of the combination T[over ˜]=PT can be modified by appropriate gauge fluxes. Using the general mechanism, we systematically construct spinless models for all non-Hermitian spinful topological phases in one and two dimensions, which are experimentally realizable. Our Letter suggests that gauge structures may significantly enrich non-Hermitian physics at the fundamental level.

7.
Cell Rep ; 42(11): 113364, 2023 11 28.
Article in English | MEDLINE | ID: mdl-37922312

ABSTRACT

Erythro-myeloid progenitors of the yolk sac that originates during early embryo development has been suggested to generate tissue-resident macrophage, mast cell, and even endothelial cell populations from fetal to adult stages. However, the heterogeneity of erythro-myeloid progenitors (EMPs) is not well characterized. Here, we adapt single-cell RNA sequencing to dissect the heterogeneity of EMPs and establish several fate-mapping tools for each EMP subset to trace the contributions of different EMP subsets. We identify two primitive and one definitive EMP subsets from the yolk sac. In addition, we find that primitive EMPs are decoupled from definitive EMPs. Furthermore, we confirm that primitive and definitive EMPs give rise to microglia and other tissue-resident macrophages, respectively. In contrast, only Kit+ Csf1r- primitive EMPs generate endothelial cells transiently during early embryo development. Overall, our results delineate the contribution of yolk sac EMPs more clearly based on the single-cell RNA sequencing (scRNA-seq)-guided fate-mapping toolkit.


Subject(s)
Endothelial Cells , Yolk Sac , Microglia , Myeloid Progenitor Cells , Sequence Analysis, RNA , Cell Lineage , Hematopoiesis/genetics
8.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(8): 1175-1182, 2023 Aug 10.
Article in Chinese | MEDLINE | ID: mdl-37661606

ABSTRACT

Objective: To evaluate the associations of meeting intensive systolic blood pressure (SBP) control goals with risk for incident cardiovascular and cerebrovascular diseases among the adult hypertensive patients in China. Methods: We used data from adult hypertensive patients from the China Kadoorie Biobank. logistic regression models evaluated the influencing factors of meeting intensive and standard SBP control goals. Cox proportional hazard models evaluated the associations between meeting intensive vs. standard SBP control goals and risk for incident cardiovascular and cerebrovascular diseases. Results: A total of 3 628 hypertensive patients who reported continuous medication use were included in this study, of which 5.0% of the participants met the goals of intensive SBP control (≤130 mmHg). Participants with higher educational attainment (OR=2.36,95%CI: 1.32-4.04), healthier diet (OR=2.09,95%CI: 1.45-2.96), daily intake of fresh fruit (OR=1.67,95%CI: 1.17-2.36) and combination treatment (OR=1.82,95%CI: 1.03-3.09) were more likely to meet intensive SBP control goal after adjustment of age, sex and urban/rural areas. During an average follow-up of (10.0±3.7) years, 1 278 cases of composite cardiovascular outcome were recorded. This study did not find a statistical correlation between achieving the goal of enhanced SBP control and the occurrence of composite cardiovascular and cerebrovascular outcomes (HR=0.89, 95%CI: 0.63-1.25). For major adverse cardiovascular events (MACE), cerebrovascular diseases, stroke, and ischemic stroke, we observed a trend of decrease in risk of outcomes with more intensive SBP control (trend test P<0.05). Conclusions: We observed decreased risk for MACE and cerebrovascular diseases with more intensive SBP control. However, there was no significant risk reduction for cardiovascular and cerebrovascular diseases when meeting the intensive SBP control goal, compared to the standard SBP control goal.


Subject(s)
Cerebrovascular Disorders , Stroke , Humans , Adult , Goals , Blood Pressure , Cerebrovascular Disorders/epidemiology , Cerebrovascular Disorders/prevention & control , China/epidemiology
9.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(7): 1021-1026, 2023 Jul 10.
Article in Chinese | MEDLINE | ID: mdl-37482702

ABSTRACT

Objective: To describe the epidemiological distribution characteristics of peripheral blood mosaic chromosomal alteration (mCA) in community adults aged 30-79 years in 10 regions of China. Methods: A total of 100 297 participants with complete baseline information (demographic characteristics, lifestyle, physical examination, etc.) and genotyping data of blood-derived DNA in ten regions of the China Kadoorie Biobank study were included. The mCAs were detected with the Mosaic Chromosomal Alterations pipeline, and logistic regression models were used to compare the differences in the detection rate of mCAs in different regions and populations. Results: A total of 5 810 mCA carriers were detected, with the detection rate of 5.8%. The standardized detection rate was 5.1%. The baseline detection rate of mCA increased with age, which were 3.4%, 5.0%, and 9.4% in those aged 30-, 51-, and >60 years, respectively (trend test P<0.001). A more significant proportion of mCAs were found in men (8.0%) than women (4.0%), as well as in urban areas (6.4%) than in rural areas (5.3%), the difference was significant (P<0.001). After adjusting for age and gender, the detection rate of mCA was higher in current smokers or people quitting smoking due to illness and people with low physical activity level, and the mCA detection rate was lower in obesy people (5.3%) than that in people with normal body weight (5.9%) (P=0.006). Conclusions: The detection rate of mCAs varied with region and population in community adults aged 30-79 years in 10 regions of China. The study results might contribute to the molecular identification of aging populations and guide precision prevention of age-related diseases such as cancers.


Subject(s)
Life Style , Smoking , Adult , Female , Humans , Male , Middle Aged , China/epidemiology , Risk Factors , Smoking/epidemiology , Aged
10.
Zhonghua Liu Xing Bing Xue Za Zhi ; 44(7): 1146-1150, 2023 Jul 10.
Article in Chinese | MEDLINE | ID: mdl-37482720

ABSTRACT

Mosaic chromosomal alteration (mCA) is referred to as large-scale somatic mutations on chromosomes, which results in diverse karyotypes in body. The mCA is regarded as one of the phenotypes of aging. Studies have revealed its associations with many chronic diseases such as hematopoietic cancers and cardiovascular diseases, but its genetic basis (e.g. genetic susceptibility variants) is still under-investigated. This paper reviews GWAS studies for mCA on autosomal chromosomes and sex chromosomes [mosaic loss of the Y chromosome (mLOY) and mosaic loss of the X chromosome (mLOX)] based on large population, respectively. Most of the genetic susceptibility loci found in studies for autosomal mCA were associated with copy-neutral loss of heterozygosity. The study of sex chromosome mCA focused on mosaic loss mutations. The number of genetic susceptibility loci for mLOY was high (up to 156), but it was relatively less for mLOX.


Subject(s)
Genome-Wide Association Study , Mosaicism , Humans , Male , Genome-Wide Association Study/methods , Genetic Predisposition to Disease , Chromosomes, Human, Y , Mutation
11.
Phys Rev Lett ; 130(25): 256601, 2023 Jun 23.
Article in English | MEDLINE | ID: mdl-37418718

ABSTRACT

As a fundamental concept of all crystals, space groups are partitioned into symmorphic groups and nonsymmorphic groups. Each nonsymmorphic group contains glide reflections or screw rotations with fractional lattice translations, which are absent in symmorphic groups. Although nonsymmorphic groups ubiquitously exist on real-space lattices, on the reciprocal lattices in momentum space, the ordinary theory only allows symmorphic groups. In this work, we develop a novel theory for momentum-space nonsymmorphic space groups (k-NSGs), utilizing the projective representations of space groups. The theory is quite general: Given any k-NSGs in any dimensions, it can identify the real-space symmorphic space groups (r-SSGs) and construct the corresponding projective representation of the r-SSG that leads to the k-NSG. To demonstrate the broad applicability of our theory, we show these projective representations and therefore all k-NSGs can be realized by gauge fluxes over real-space lattices. Our work fundamentally extends the framework of crystal symmetry, and therefore can accordingly extend any theory based on crystal symmetry, for instance, the classification crystalline topological phases.

12.
Nat Commun ; 14(1): 4563, 2023 Jul 28.
Article in English | MEDLINE | ID: mdl-37507388

ABSTRACT

Band topology of materials describes the extent Bloch wavefunctions are twisted in momentum space. Such descriptions rely on a set of topological invariants, generally referred to as topological charges, which form a characteristic class in the mathematical structure of fiber bundles associated with the Bloch wavefunctions. For example, the celebrated Chern number and its variants belong to the Chern class, characterizing topological charges for complex Bloch wavefunctions. Nevertheless, under the space-time inversion symmetry, Bloch wavefunctions can be purely real in the entire momentum space; consequently, their topological classification does not fall into the Chern class, but requires another characteristic class known as the Stiefel-Whitney class. Here, in a three-dimensional acoustic crystal, we demonstrate a topological nodal-line semimetal that is characterized by a doublet of topological charges, the first and second Stiefel-Whitney numbers, simultaneously. Such a doubly charged nodal line gives rise to a doubled bulk-boundary correspondence-while the first Stiefel-Whitney number induces ordinary drumhead states of the nodal line, the second Stiefel-Whitney number supports hinge Fermi arc states at odd inversion-related pairs of hinges. These results experimentally validate the two Stiefel-Whitney topological charges and demonstrate their unique bulk-boundary correspondence in a physical system.

13.
J Dent Res ; 102(6): 689-698, 2023 06.
Article in English | MEDLINE | ID: mdl-36942967

ABSTRACT

Periodontitis is a prevalent inflammatory oral disease associated with an increased risk of colorectal cancer. Experimental animal models are critical tools to investigate the effects and mechanisms of periodontitis on colorectal cancer. Several murine periodontitis models have been used in research, including oral gavage, periodontal pathogen injection, and ligature models. The role of experimental periodontitis caused by silk ligation in colorectal cancer remains unclear. In this study, we used an experimental periodontitis model on a colitis-associated colorectal cancer model and a spontaneous model, respectively. We observed the promotion of colorectal cancer in ligature-induced periodontitis mice compared to those control mice in 2 different models, as assessed by tumor number, tumor size, and tumor load. Since bacterial dysbiosis is an important feature of periodontitis, we next analyzed the oral and gut microbiomes using 16S ribosomal RNA gene sequencing. We found that the experimental periodontitis model reshaped the microbial community in the oral cavity and gut. In addition, we found a higher extent of programmed death 1 (PD-1)-positive CD8+ T-cell infiltration in tumor samples of the periodontitis group than in controls by immunofluorescence staining. Regarding the potential molecular mechanism, we transplanted the fecal microbiota of the periodontitis patient into mice and observed a tumor-promoting effect in the periodontitis group, assessed by tumor volume and tumor weight, together with a low level of INF-γ+ CD8+ T-cell infiltration in subcutaneous tumor mice. Taken together, we show that ligature-induced periodontitis model promotes colorectal cancer by microbiota remodeling and suppression of the immune response.


Subject(s)
Colorectal Neoplasms , Gastrointestinal Microbiome , Periodontitis , Mice , Animals , Periodontitis/microbiology , Bacteria/genetics , Colorectal Neoplasms/complications , Disease Models, Animal , Mice, Inbred C57BL , RNA, Ribosomal, 16S/genetics
14.
Nat Commun ; 14(1): 743, 2023 Feb 10.
Article in English | MEDLINE | ID: mdl-36765052

ABSTRACT

A peculiar feature of quantum states is that they may embody so-called projective representations of symmetries rather than ordinary representations. Projective representations of space groups-the defining symmetry of crystals-remain largely unexplored. Despite recent advances in artificial crystals, whose intrinsic gauge structures necessarily require a projective description, a unified theory is yet to be established. Here, we establish such a unified theory by exhaustively classifying and representing all 458 projective symmetry algebras of time-reversal-invariant crystals from 17 wallpaper groups in two dimensions-189 of which are algebraically non-equivalent. We discover three physical signatures resulting from projective symmetry algebras, including the shift of high-symmetry momenta, an enforced nontrivial Zak phase, and a spinless eight-fold nodal point. Our work offers a theoretical foundation for the field of artificial crystals and opens the door to a wealth of topological states and phenomena beyond the existing paradigms.

15.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(12): 2026-2029, 2022 Dec 10.
Article in Chinese | MEDLINE | ID: mdl-36572480

ABSTRACT

Somatic mosaicism is defined as the occurrence and accumulation of somatic mutations in humans, and mosaic chromosomal alterations (mCA) are recognized as one of the aging phenotypes due to their impact on genome integrity. With the coming acceleration of global population aging, understanding the prevalence and influencing factors of mCA will help to explore the "genomic instability" of human aging and its biological mechanisms and provide the scientific basis for the primary prevention of age-related diseases. This review aims to summarize the epidemiological distribution and influencing factors of autosomal mCA in peripheral blood based on previous large-scale population-based studies.


Subject(s)
Aging , Mosaicism , Humans , Aging/genetics
16.
Animal ; 16(12): 100672, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36410176

ABSTRACT

Litter traits are critical economic variables in the pig industry as they represent a production indicator that can serve to determine sow fertility. In this study, a genome-wide association study on litter traits, including total number born (TNB), number born alive (NBA), litter birth weight (LBW), average birth weight (ABW), and piglet uniformity (PU), was carried out on two pig breeds (Yorkshire and Landrace). A total of 3 637 pigs of both breeds were genotyped using the GeneSeek GGP Porcine 50K SNP BeadChip. A mixed linear model (MLM) and fixed and random model circulating probability unification (FarmCPU) were employed in the genome-wide association studies for litter traits using combined data from the two pig breeds and data from each breed separately. Additionally, the heritability of traits was estimated using three methods-pedigree-based best linear unbiased prediction (PBLUP), genomic best linear unbiased prediction (GBLUP), and single-step best linear unbiased prediction (ssGBLUP)-and was found to lie between 0.065 and 0.1289, 0.0478 and 0.0938, 0.0793 and 0.0935, 0.1862 and 0.2163, and 0.0327 and 0.0419 for TNB, NBA, LBW, ABW, and PU, respectively. We also compared the genomic prediction accuracies and unbiasedness for litter traits of the three BLUP models. Our results indicated that the ssGBLUP method provided higher predictive accuracies and more rational unbiasedness compared with the PBLUP and GBLUP methodologies. Furthermore, based on their possible roles, eight candidate genes (INHBA, LEPR, HDHD2, CTNND2, RNF216, HMX1, PAPPA2, and NTN1) were identified as being linked with litter traits. In the middle of the test, these genes were found to be connected with pig metabolism and ovulation rate. Our results provide the insights into the genetic architecture of litter traits in pigs, and the potential single nucleotide polymorphisms (SNPs) and candidate genes identified may benefit economic profits in pig-breeding industry and contribute to improve litter traits.


Subject(s)
Genome-Wide Association Study , Parturition , Pregnancy , Swine/genetics , Animals , Female , Genome-Wide Association Study/veterinary , Birth Weight/genetics , Phenotype , Genotype , Polymorphism, Single Nucleotide , Litter Size/genetics
17.
Article in Chinese | MEDLINE | ID: mdl-36058666

ABSTRACT

Objective: To diagnose a large family of patients with hereditary angioedema, and to study its inheritance pattern and gene locus. Methods: A retrospective analysis was carried out from August 2021 to February 2022 in a proband (female, 48 years old) and 12 family members who underwent medical history collection and laboratory examinations in the Department of Otorhinolaryngology and Head and Neck Surgery, the Second Hospital of Shanxi Medical University. The clinical data of members and non-affected members [including 7 males and 5 females, aged 12-78 (median 24) years old], were drawn a family map while confirming the diagnosis. Whole exome sequencing technology was used to detect the genetic sequence of the proband and to verify its family members to map the genetic pedigree of the mutation. Results: The inheritance pattern of the family was autosomal dominant, and 8 members of the family were diagnosed with hereditary angioedema by laboratory examination, including 7 cases of type I and 1 case of type Ⅱ. Whole exome sequencing analysis was performed on 2 patients with 2 phenotypes, and it was found that they both carried the same pathogenic mutation locus, which was c.890-2A>G. The family members were verified by next-generation sequencing, and it was found that all members of the family who had a history of edema contained this mutation site, while the younger brother of the proband who had no history of edema did not have this mutation. Conclusion: Both type Ⅰ and type Ⅱ phenotypes are present in this hereditary angioedema family, and the mutation of SERPING1 gene c.890-2A>G causes the onset of each patient in this family.


Subject(s)
Angioedemas, Hereditary , Angioedemas, Hereditary/genetics , Asian People , Female , Humans , Male , Mutation , Pedigree , Retrospective Studies
18.
Zhonghua Liu Xing Bing Xue Za Zhi ; 43(8): 1338-1342, 2022 Aug 10.
Article in Chinese | MEDLINE | ID: mdl-35982000

ABSTRACT

"Active health" has been emphasized in "Healthy China 2030" in dealing with the challenges of population aging, so the anti-aging strategies are requires to be more precise and effective at both individual and population levels. Aging is influenced by both genetic and environmental factors. In the recent 20 years, the research of genetics of human ageing has been greatly facilitated owning to the development of high-throughput sequencing techniques, statistical methodology for multi-omics data, as well as the growing qualified evidence of large-scale population-based genomic research. This paper provides a review of genome-wide association research of aging.


Subject(s)
Aging , Genome-Wide Association Study , Aging/genetics , Genome-Wide Association Study/methods , Genomics/methods , High-Throughput Nucleotide Sequencing , Humans , Phenotype
19.
Int J Pharm ; 623: 121913, 2022 Jul 25.
Article in English | MEDLINE | ID: mdl-35710073

ABSTRACT

The structural transition to generate amorphous translucent grains in Poria cocos dry extract (PCE) composite particles was found and studied as a new direct compression mechanism. The pressure and displacement sensing techniques were used to obtained stress-strain profiles during compression. The Exponential function, Kawakita model, Shapiro model and Heckel model were used to analysis mechanical properties of powders. 12 parameters derived from compression models and powder physical properties were applied to partial least squares method (PLS) for analyzing powder compression mechanism. It was found that only the oven-dried PCE composite particles undergoes the structural transition and generate translucent grains scattered and embedded in tablet, and these tablets have excellent mechanical stability. The structural transition in plant dry extract as the PCE composite particles could be exploited to improve powder compression and tabletability.


Subject(s)
Chemistry, Pharmaceutical , Wolfiporia , Chemistry, Pharmaceutical/methods , Particle Size , Plant Extracts , Powders , Tablets/chemistry
20.
Nat Commun ; 13(1): 2215, 2022 Apr 25.
Article in English | MEDLINE | ID: mdl-35468905

ABSTRACT

A Brillouin zone is the unit for the momentum space of a crystal. It is topologically a torus, and distinguishing whether a set of wave functions over the Brillouin torus can be smoothly deformed to another leads to the classification of various topological states of matter. Here, we show that under [Formula: see text] gauge fields, i.e., hopping amplitudes with phases ±1, the fundamental domain of momentum space can assume the topology of a Klein bottle. This drastic change of the Brillouin zone theory is due to the projective symmetry algebra enforced by the gauge field. Remarkably, the non-orientability of the Brillouin Klein bottle corresponds to the topological classification by a [Formula: see text] invariant, in contrast to the Chern number valued in [Formula: see text] for the usual Brillouin torus. The result is a novel Klein bottle insulator featuring topological modes at two edges related by a nonlocal twist, radically distinct from all previous topological insulators. Our prediction can be readily achieved in various artificial crystals, and the discovery opens a new direction to explore topological physics by gauge-field-modified fundamental structures of physics.

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