An experimental study of a novel external fixator based on universal joints for the rapid initial stabilization of mandibular comminuted fractures.

PURPOSE: Shaping and assembling contemporary external fixators rapidly for the severe mandibular fractures remains a challenge, especially in emergency circumstance. We designed a novel external fixator that incorporates universal joints to provide the stabilization for mandibular comminuted fractures. This study aims to confirm the efficacy of this novel external fixator through biomechanical tests in vitro and animal experiments. METHODS: In vitro biomechanical tests were conducted using 6 fresh canine with mandibular defect to simulate critical comminuted fractures. Three mandibles were stabilized by the novel external fixator and other mandibles were fixed by 2.5 mm reconstruction plates. All fixed mandibles were subjected to loads of 350 N on the anterior regions of teeth and 550 N on the first molar of the unaffected side. The stability was evaluated based on the maximum displacement and the slope of the load-displacement curve. In animal experiments, 9 beagles with comminuted mandibular fractures were divided into 3 groups, which were treated with the novel external fixation, reconstruction plate, and dental arch bar, respectively. The general observation, the changes in animals' weight, and the surgical duration were recorded and compared among 3 groups. The CT scans were performed at various intervals of 0 day (immediately after the surgery), 3 days, 7 days, 14 days, 21 days, and 28 days to analyze the displacement of feature points on the canine mandible and situation of fracture healing at 28 days. The statistical significance was assessed by the two-way analysis of variance test followed by the Bonferroni test, enabling multiple comparisons for all tests using GraphPad Prism10.1.0 (GraphPad Inc, USA). RESULTS: The outcomes of the biomechanical tests indicated that no statistically significant differences were found in terms of the maximum displacement (p = 0.496, 0.079) and the slope of load displacement curves (p = 0.374, 0.349) under 2 load modes between the external and internal fixation groups. The animal experiment data showed that there were minor displacements of feature points between the external and internal fixation groups without statistic difference, while the arch bar group demonstrated inferior stability. The CT analysis revealed that the best fracture healing happened in the internal fixation group, followed by the external fixation and arch baring at 28 days after fixation. The external fixation group had the shortest fixation duration (25.67 ± 3.79) min compared to internal fixation ((70.67 ± 4.51) min, p < 0.001) and arch baring ((42.00 ± 3.00) min, p = 0.046). CONCLUSION: The conclusion of this study highlighted the efficacy and reliability of this novel external fixator in managing mandibular fractures rapidly, offering a viable option for the initial stabilization of comminuted mandibular fractures in the setting of emergency rescue.

Mine water cooperative optimal scheduling based on improved genetic algorithm.

This article addresses the issues of unreasonable water scheduling and high costs in coal mine shafts, proposing a hierarchical optimization scheduling strategy. Taking the water quality and quantity of a certain mining area in Inner Mongolia as the research object, it designs the objective function with the highest reuse efficiency and the lowest reuse cost of mine water resources, and establishes the constraint conditions of water quality and quantity for each water-using unit. In response to the problem that traditional genetic algorithms are prone to local optima, an adaptive autobiographical operator is proposed and improved based on Metropolis principle of simulated annealing algorithm. The improved algorithm is applied to the calculation of the scheduling model, and the results show that the recovery cost in the heating season is reduced by 66779.36 CNY/month, a decrease of 10.34%; the recovery cost in the non-heating season is reduced by 61469.28 CNY/month, a decrease of 9.91%. At the same time, the heating season and the non-heating season have reduced by 136.99 h/month and 154.52 h/month respectively, significantly reducing the recovery cost and time.

Analysis of macular vascular density and retinal thickness of school-age children / 中华眼底病杂志

Objective:To observe the correlation between retinal capillary density and retinal thickness in the macula and spherical equivalent (SE) in school-age children.Methods:A cross-sectional study. From May to December 2022, 182 school-age children who visited the ophthalmology department of the First Affiliated Hospital of Zhengzhou University were included. There were 95 males and 87 females. The age ranged from 6 to 12 years, and the spherical equivalent (SE) was +0.50 to -6.00 D. They were divided into three groups based on the SE of the right eyes: 54 eyes in emmetropia group (+0.50≤SE<-0.50 D), 71 eyes in low myopia group (-0.50≤SE<-3.00 D), and 57 eyes in moderate myopia group (-3.00≤SE≤-6.00 D). The macular area of 6 mm×6 mm was scanned using swept-source optical coherence tomography angiography and was divided into three concentric rings centered on the fovea, including the macular central fovea (0-1 mm diameter), inner ring (1-3 mm diameter) and outer ring (3-6 mm diameter). The retinal thickness and blood flow density of superficial vascular plexus (SVP) and deep vascular plexus (DVP) in different zones within 6 mm of the macular area were measured. The relationships between SE and SVP, DVP and retinal thickness in each ring region were investigated by univariate and multivariate linear regression analyses, smooth curve fitting, and threshold effects.Results:There were significant differences in the SVP ( F=6.64, 26.06, 22.69) and DVP ( F=7.97, 25.01, 5.09) of macular central fovea, inner ring and outer ring among the emmetropia, low myopia and moderate myopia groups ( P<0.05). Univariate linear regression analysis showed that the SVP ( β=-0.56,-1.17, -0.79) and DVP ( β=-1.03, -0.93, -0.45) of the three regions were positively correlated with SE ( P<0.05). After smooth curve fitting, threshold effect analysis and multivariate linear regression analysis, the SVP and DVP in the macular central fovea were linearly positively correlated with SE ( β=-0.91, -1.40; P<0.05), and SVP and DVP in the inner ring and outer ring showed an inverted U-shaped curve relationship with SE with the inflection (<3.00 D). When the SE was less than <3.00 D, the SVP and DVP in the inner ring and outer ring were positively correlated with SE ( P<0.05). When the SE was higher than -3.00 D, except for the DVP in the inner ring region, the other parameters were negatively correlated with SE ( P<0.05). There were significant differences in retinal thickness of the inner ring and outer ring ( F=5.47, 16.36; P<0.05), and no significant difference in the macular central fovea among the emmetropia, low and moderate myopia groups ( F=2.16, P>0.05). By using univariate and multivariate linear regression analyses, the retinal thickness in the inner ring and outer ring were negatively correlated with SE ( β =1.99, 3.05; P<0.05). However, no correlation was found between retinal thickness and SE in the macular central fovea ( β=-1.65, P>0.05). Conclusions:In school-age children with SE between +0.50 D and -6.00 D, the retinal capillaries density of the macular central fovea gradually increase, and increase first and then decrease in the inner ring and outer ring with increasing SE. The retinal thickness of inner ring and outer ring gradually decrease and not change significantly in the macular central fovea.

Research on the data validity of a coal mine solid backfill working face sensing system based on an improved transformer.

Solid backfilling in coal mining refers to filling the goaf with solid materials to form a support structure, ensuring safety in the ground and upper mining areas. This mining method maximizes coal production and addresses environmental requirements. However, in traditional backfill mining, challenges exist, such as limited perception variables, independent sensing devices, insufficient sensing data, and data isolation. These issues hinder the real-time monitoring of backfilling operations and limit intelligent process development. This paper proposes a perception network framework specifically designed for key data in solid backfilling operations to address these challenges. Specifically, it analyses critical perception objects in the backfilling process and proposes a perception network and functional framework for the coal mine backfilling Internet of Things (IoT). These frameworks facilitate rapidly concentrating key perception data into a unified data centre. Subsequently, the paper investigates the assurance of data validity in the perception system of the solid backfilling operation within this framework. Specifically, it considers potential data anomalies that may arise from the rapid data concentration in the perception network. To mitigate this issue, a transformer-based anomaly detection model is proposed, which filters out data that does not reflect the true state of perception objects in solid backfilling operations. Finally, experimental design and validation are conducted. The experimental results demonstrate that the proposed anomaly detection model achieves an accuracy of 90%, indicating its effective detection capability. Moreover, the model exhibits good generalization ability, making it suitable for monitoring data validity in scenarios involving increased perception objects in solid backfilling perception systems.

[Research Progress on the Interaction Between Microorganisms and Macrophages and Their Role in the Mediation of the Onset and Development of Oral Cancer].

Oral squamous cell carcinoma is the sixth most common malignant tumor in the world, and the clinical treatment effect is not satisfactory. Because of the special nature of its location, oral cancer is inextricably linked with a wide variety of microorganisms, and its pathogenesis and development are also extremely susceptible to microbial regulation. In addition, the mediating role of the immune system is also indispensable to the course of tumor pathogenesis and development, especially tumor-associated macrophages, which amplify the regulatory role of microorganisms, and in turn regulate the microbial population components--two complementary effects that jointly exacerbate oral cancer. Herein, we summarized the existing research on the relationship between microorganisms and macrophages, as well as the regulatory role of microorganisms and macrophages in the pathogenesis and development of oral cancer. We also discussed the current status of and gaps in research on the relationship between microorganisms and macrophages and oral cancer. Both microorganisms and macrophages are considered promising indicators for prognosis, showing potentials to be used as new therapeutic targets. Despite some research interest in the role of microorganisms and macrophages in oral cancer, very few studies have linked them to oral precancerous lesions, and the mutual regulatory relationship between microorganisms and macrophages remains unclear. Therefore, in-depth exploration of the relationship network of microorganisms, macrophages and oral cancer is expected to provide more possibilities for the early diagnosis and treatment of tumors.

Study on the mechanism of miR-23b-3p regulating osteogenic differentiation of renal interstitial fibroblasts and participating in Randall's plaque formation / 安徽医科大学学报

Objective To explore the effect of miR-23b-3p regulation on osteogenic differentiation of renal intersti-tial fibroblasts(hRIFs)on the formation of Randall plaque and its possible mechanism.Methods qRT-PCR was used to detect the expression levels of miR-23b-3p and osteogenic marker:myocyte enhancer factor 2C(MEF2C),osteocalcin(OCN),osteopontin(OPN),runt-related transcription factor 2(Runx2)mRNA in Randall plaque tis-sue of CaOx stone patients(RP)and normal papillary tissue of kidney tumor patients undergoing nephrectomy(nRP).Isolation and culture of human normal hRIFs were isolated and cultured in vitro.The miR-23b-3p overex-pression plasmid pSi-miR-23b-3p and its negative no-load plasmid pSi-NC,the MEF2C lentivirus overexpression plasmid Lv-MEF2C and the no-load plasmid Lv-NC were transfected into hRIFs cells,and the cells were induced to osteogenic differentiation for 14 days.The activity of alkaline phosphatase(ALP)was determined by ELISA.Aliz-arin red staining was used to observe the formation of mineralized nodules.The expression levels of miR-23b-3p and MEF2C,OCN,OPN,Runx2 mRNA were detected by qRT-PCR.The expression level of MEF2C protein was de-tected by Western blot.Dual luciferase reporter gene assay verified the targeting relationship between miR-23b-3p and MEF2C.Results ① Compared with the nRP group,miR-23b-3p was low expressed and MEF2C,OCN,OPN,and Runx2 were highly expressed in the RP group.② 14 days after osteogenic induction of hRIFs cells,the activity of ALP in cells significantly increased,the ability of cells to form mineralized nodules was enhanced,the expression level of miR-23b-3p significantly decreased,the mRNA expression levels of MEF2C,OCN,OPN,and Runx2 significantly increased,and the expression level of MEF2C protein significantly increased.③ Overexpres-sion of miR-23b-3p decreased the activity of ALP in hRIFs cells after osteogenic induction,inhibited the formation of mineralized nodules in cells,and down-regulated the mRNA expression levels of OCN,OPN,and Runx2 in cells.④ Overexpression of MEF2C reversed the inhibitory effect of miR-23b-3p overexpression on osteoblast differ-entiation of hRIFs cells.⑤ MEF2C was the downstream target gene of miR-23b-3p.Conclusion miR-23b-3p is underexpressed in RP tissues and during osteoblastic differentiation of hRIFs cells.Up-regulation of miR-23b-3p in-hibits osteogenic differentiation of hRIFs cells,and its mechanism may be related to targeted silencing MEF2C.

Efficacy and safety of autologous hematopoietic stem cell transplantation in patients with multiple myeloma / 白血病·淋巴瘤

Objective:To investigate the efficacy and safety of autologous hematopoietic stem cell transplantation (ASCT) in the treatment of multiple myeloma (MM).Methods:The clinical data of 64 MM patients who received ASCT in the Second Affiliated Hospital of Xi'an Jiaotong University from October 2015 to March 2022 were retrospectively analyzed. The clinical characteristics, therapeutic effects and adverse reactions of the patients were summarized.Results:Of the 64 patients, 42 were male and 22 were female; the median age was 54 years old (37-69 years old). The median number of CD34 + cells collected from 46 patients in the CE (cyclophosphamide, etoposide) regimen mobilization group and 17 patients in the plerixafor mobilization group were 7.50×10 6/kg [(1.15-24.73)×10 6/kg] and 4.54×10 6/kg [(0.75-10.40)×10 6/kg], and the difference was statistically significant ( Z = 3.02, P = 0.024). Hematopoietic reconstitution was successful in all 64 patients, and the median time for white blood cell and platelet engraftment was 11 d (8-13 d) and 11 d (8-15 d), respectively. The patients' pretreatment regimens were all high-dose melphalan, the median white blood cell and platelet engraftment time of 29 patients in the oral group were 11 d (8-13 d) and 11 d (8-15 d), respectively, the median white blood cell and platelet engraftment time of 35 patients in the intravenous infusion group were 11 d (8-12 d) and 11 d (8-15 d), respectively, and there were no statistical differences (both P > 0.05). The ≥CR rate was 48.4% (31/64) before transplantation and 70.3% (45/64) three months after transplantation, and the difference was statistically significant ( χ2 = 6.35, P = 0.012). The median follow-up time of all patients was 27 months (2-67 months). The 3-year OS and PFS rates were 77.6% and 54.9%, and the median OS and PFS time were 67 and 52 months. The median hospitalization time was 20 d (15-37 d). There was no transplantation-related mortality, and the main adverse reactions were gastrointestinal reactions (100.0%, 64/64), grade 4 thrombocytopenia (98.4%, 63/64), grade 4 neutropenia, and agranulocytosis with fever (40.6%, 26/64). Conclusions:ASCT is effective for MM patients suitable for transplantation, which can further improve the remission rate and remission depth, prolong the PFS and OS time of patients, and the adverse reactions are controllable.

Pure single-port lumpectomy non-lipolysis breast-conserving surgery in the treatment of early-stage breast cancer / 中华内分泌外科杂志

Objective:To summarize the clinical data and experience of pure single-port lumpectomy non-lipolysis breast-conserving surgery (PSLN-BCS) in patients with early-stage breast cancer.Methods:A retrospective analysis was conducted on 400 patients who underwent breast-conserving surgery for early-stage breast cancer in the Second Department of Breast Surgery at Harbin Medical University Cancer Hospital from Jan. 2022 to Jan. 2023. Patients were divided into two groups: PSLN-BCS group ( n=200) and conventional breast-conserving surgery (C-BCS) group ( n=200). The surgical time, intraoperative blood loss, postoperative drainage within three days, and short-term (3 months to 6 months after surgery) complications, including the incidence of residual fluid after drain removal and incision infection were observed. Long-term (6 months after surgery) complications, including the incidence of skin and pectoralis major muscle adhesions in the surgical area and cosmetic results after breast-conserving surgery, were also evaluated. Statistical analysis was performed using R language, and quantitative data were expressed as mean ± standard deviation ( ± s) and analyzed using t-test, while count data were analyzed using χ2 test. A p-value less than 0.05 was considered statistically significant. Results:PSLN-BCS had a longer average surgical time than C-BCS (198.341min vs 62.961min, P<0.001, 95% CI:132.028 vs 138.732). PSLN-BCS had less intraoperative bleeding (18.824 ml vs 22.627 ml, P=0.003, 95% CI: -6.294 vs -1.311) and lower postoperative drainage volume (346.157 ml vs 406.191 ml, P<0.001, 95% CI: -70.571-a-49.496). There were no significant differences in short-term postoperative complications such as subcutaneous fluid accumulation ( χ2=2.33, P=0.127) or incisional infection ( χ2=0.14, P=0.708) between the two groups. The incidence of skin and muscle adhesions in the surgical area was lower in patients who underwent PSLN-BCS at 6 months postoperatively ( χ2=11.58, P<0.001). Patients who received PSLN-BCS achieved better cosmetic outcomes, with a statistically significant difference ( χ2=273.00, P<0.001) compared to those who received C-BCS. Conclusion:Pure single-port lumpectomy non-lipolysis breast-conserving surgery is a safe and effective treatment option for early-stage breast cancer and can be considered as a surgical option for patients with cosmetic requirements.

Analysis of choroidal vascularity index distribution and influencing factors in normal children / 中华实验眼科杂志

Objective:To evaluate the distribution characteristics of choroidal vascularity index (CVI) in macula among normal children using swept-source optical coherence tomography (SS-OCT), and to investigate the influencing factors.Methods:A cross-sectional study was conducted.Sixty-three children aged 6 to 12 years were enrolled in The First Affiliated Hospital of Zhengzhou University from May 2021 to November 2021.Spherical equivalent refraction, axial length (AL) and other ocular biological parameters were measured.Macula-centered CVI and choroidal thickness (ChT) were measured by SS-OCT angiography.According to the ETDRS partition, the obtained image was divided into macular central fovea (0-1 mm diameter), inner ring (1-3 mm diameter) and outer ring (3-6 mm diameter) zones.Data from the right eye were selected for statistical analysis.CVI in the three rings and four zones (superior, temporal, inferior and nasal zones) of the inner and outer rings were compared.Univariate and multiple linear regression analyses were used to analyze the correlation between CVI and sex, AL, anterior chamber depth (ACD), ChT and pupil diameter.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of The First Affiliated Hospital of Zhengzhou University (No.2021-KY-0399-003). Written informed consent was obtained from each guardian.Results:The average CVI in the macular central fovea, inner ring and outer ring were 0.35±0.12, 0.32±0.10 and 0.27±0.08, respectively, with a significant difference ( F=10.96, P<0.001), and significant differences in CVI were found in pairwise comparisons of the three ring zones (all at P<0.05). Significant differences in CVI were found among superior, temporal, inferior and nasal zones in inner and outer rings ( Fring=11.60, P=0.001; Fzone=12.02, P<0.05). The CVI was smaller in superior and nasal zones in inner ring than in temporal zone, greater in superior, temporal and inferior zones in outer ring than in nasal zone, smaller in superior zone of outer ring than that of the inner ring, and the differences were statistically significant (all at P<0.001). The single factor linear regression analysis showed that ChT in the fovea, inner ring and outer ring were the influencing factors of CVI in the three ring zones (all at β=0.001, P<0.001). Pupil diameter ( β=0.034, P=0.038; β=0.040, P=0.003; β=0.024, P=0.011) and ACD ( β=0.097, P=0.034; β=0.097, P=0.013; β=0.061, P=0.032) were the influencing factors of CVI in fovea, inner ring and outer ring.After multiple linear regression analysis, the regression equations were established as follows: CVI in the macular fovea=0.001×ChT in the macular fovea + 0.001×ChT in the inner ring+ 0.001×ChT in the outer ring-0.301 ( R2=0.514, F=6.875, P<0.001); CVI in the inner ring=0.001×ChT in the macular fovea+ 0.001×ChT in the inner ring+ 0.001×ChT in the outer ring+ 0.088×AL-0.307 ( R2=0.603, F=9.870, P<0.001); CVI in the outer ring=0.001×ChT in the macular fovea+ 0.001×ChT in the inner ring+ 0.001×ChT in the outer ring-0.135 ( R2=0.601, F=9.781, P<0.001). Conclusions:In children aged 6-12 years old, the CVI is higher in the macular central fovea than in inner and outer rings, and the CVI in nasal zone is the smallest in both inner and outer rings.The thicker the ChT, the higher the CVI in all zones in the macular area; the deeper the anterior chamber, the higher the CVI in the inner ring.

Comparison of detection rates and time costs of different fundus imaging techniques for retinal neovascularization in optic disc and other area of proliferative diabetic retinopathy / 中华实验眼科杂志

Objective:To compare the detection rate and time cost of different imaging methods for retinal and optic disc neovascularization in proliferative diabetic retinopathy (PDR).Methods:A cross-sectional study was conducted.Thirty-eight patients (48 eyes) with PDR were enrolled in Henan Eye Hospital from October 2019 to February 2021, including 22 males (28 eyes) and 16 females (20 eyes). The average age of the patients was (51.08±13.35) years.All patients underwent ultra-widefield imaging (UWFI), fundus fluorescein angiography (FFA), optical coherence tomography angiography (OCTA), en face optical coherence tomography (OCT), near-infrared fundus imaging (IR) combined with spectral domain OCT (SD-OCT). Wide field swept-source OCTA (WF-SS-OCTA) was performed in the patients who were unsuitable for FFA.The time required for each examination in one eye and the detection rate of neovascularization at the optic disc (NVD) and retinal neovascularization elsewhere (NVE) were recorded.This study adhered to the Declaration of Helsinki.The study protocol was approved by Henan Eye Hospital (No.HNEECKY-2021[22]). All patients were informed about the method and purpose of the study and voluntarily signed the informed consent form.Results:The mean monocular examination time costs of UWFI, IR+ SD-OCT, OCTA+ en face OCT, FFA and WF-SS-OCT was (0.51±0.13), (2.08±0.57), (5.79±0.68), (17.66±1.83) and (13.38±1.23)min, respectively.There was a significant overall difference in the mean monocular examination time among the five methods ( F=2 077.960, P<0.001). The detection rates of UWFI, IR+ SD-OCT, OCTA+ en face OCT, FFA+ WF-SS-OCT for NVE and NVD were 52.1%(25/48) and 12.5%(6/48), 81.3%(39/48) and 20.8%(10/48), 83.3%(40/48) and 27.1%(13/48), 93.8%(45/48) and 29.2%(14/48), respectively.There were significant differences in the detection rates of NVE ( χ2=26.460, P<0.001) but not in the detection rates of NVD ( χ2=4.645, P=0.200) among the various methods.Five neovascular buds were detected by OCTA in 3 eyes, but not by FFA. Conclusions:UWFI and IR+ SD-OCT are faster and non-invasive methods for the screening of NVD and NVE in PDR eyes.Compared with FFA, OCTA and en face OCT can show the shape of neovascularization more clearly.FFA provides a wide-range retinal image, but it is time-consuming and invasive.WF-SS-OCTA extends the examination range of OCTA and detects neovascularization non-invasively and faster than FFA.

VPS13B gene variation and clinical phenotype of Cohen syndrome in a Chinese Han family / 中华实验眼科杂志

Objective:To analyze the pathogenicity and clinical characteristics of patients with Cohen syndrome caused by a compound heterozygous variation of VPS13B gene. Methods:A pedigree investigation was conducted.A Chinese Han family with Cohen syndrome was recruited from Henan Eye Hospital in September 2021.There were three members of two generations in this family, including one patient.The clinical data of the proband and his parents were collected, and the relevant ophthalmic and general examinations were performed to evaluate the clinical phenotype.The peripheral venous blood samples of the family members were collected to extract whole genomic DNA, and the whole exome sequencing was performed.Sanger sequencing and pedigree co-segregation analysis were performed among the family members.According to the ACMG guidelines, the pathogenicity of the selected variants was evaluated and the online tools were used to predict the pathogenicity of the variants.Relevant literature of Cohen syndrome were retrieved in Online Mendelian Inheritance in Man (OMIM) and PubMed, China National Knowledge Infrastructure and Wanfang databases by taking Cohen syndrome and VPS13B gene as the searching keywords.The clinical manifestations and pathogenic variants of patients in the literature were summarized, and the relationship between genotype and clinical phenotype was analyzed.This study protocol adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[15]). Both the subject and the patient's guardian were aware of the study purpose and method.Written informed consent was obtained. Results:The family was consistent with autosomal recessive inheritance.The proband, a 5-year-old male, had bilateral night blindness with photophobia, ptosis, lower eyelid entropion, and trichiasis; high myopia in both eyes; osteoblastoid pigmentation in the peripheral retina, atrophy and thinning of the outer layer of the peripheral retina, extinguished flashing electroretinogram; global growth retardation, typical facial features, slender fingers and toes, flatfoot, foot valgus, dystonia, no cardiac abnormalities; excessively cheerful personality.The clinical manifestations of the proband were consistent with Cohen syndrome.No obvious abnormality was found in the clinical phenotype and the auxiliary examination of the proband's parents.Whole exon sequencing revealed that the proband carried two heterozygous variations, a nonsense variation c. 11713C>T(p.Gln3905*) and a splicing variation c. 6940+ 1G>T.Sanger sequencing confirmed that the above variations were co-segregated in this family.c.11713C>T(p.Gln3905*) was a novel variant, which prematurely terminated the protein encoded by it and affected the normal function of the protein.The two variations were pathogenic variants according to the ACMG guidelines.A total of 12 articles on variants and clinical characteristics of Cohen syndrome in China were retrieved.Combined with the results of this study, a total of 24 VPS13B variants were found in Chinese patients, of which the incidence of frameshift variation was 41.7%(10/24), missense variation 20.8%(5/24), splicing variation 20.8%(5/24) and nonsense variation 16.7%(4/24), respectively.The onset age of patients with Cohen syndrome was from 28 days to 12 years old.The symptoms such as nerve system, eye, brain, and bone were sporadic, and the clinical manifestations were highly heterogeneous. Conclusions:A novel pathogenic variation c. 11713C>T is found in the VPS13B gene of the Cohen syndrome pedigree in this study, and expands the pathogenic variation spectrum of the VPS13B gene.The clinical manifestations of Cohen syndrome are highly heterogeneous.

Evaluation of clinical efficacy and prognostic factors in multiple myeloma patients treated with auto-HSCT: A single-center real-world study / 西安交通大学学报(医学版)

【Objective】 To evaluate the clinical efficacy and prognostic factors in multiple myeloma (MM) patients treated with autologous hematopoietic stem cell transplantation (auto-HSCT). 【Methods】 The clinical data of 155 MM patients newly diagnosed and suitable for transplantation in our hospital from 2014 to 2021 were retrospectively analyzed. They were divided into auto-HSCT group and non-auto-HSCT group according to the treatment mode. The clinical efficacy, overall survival (OS) and progression-free survival (PFS) of the two groups were compared. Furthermore, the prognostic factors of auto-HSCT group were analyzed. 【Results】 ① There were 51 patients in auto-HSCT group and 104 patients in non-auto-HSCT group. There was no statistical difference in baseline characteristics except age between the two groups. ② Hematopoietic reconstruction was achieved in all patients in auto-HSCT group, and no transplantation-related mortality was found. ③ The clinical efficacy of pre-and post-transplantation was compared in auto-HSCT group. sCR/CR rate was significantly increased after transplantation (P=0.041). The effective remission rate (≥VGPR) was also higher (P=0.05). As for the best efficacy, sCR/CR rate and effective remission rate were both significantly higher in auto-HSCT group than in non-auto-HSCT group (P=0.001). ④ In auto-HSCT group, by the end of follow-up, the median OS was not reached, the median PFS was 30.5 months, and 3-year OS and PFS was 87% and 40.3%, respectively. In non-auto-HSCT group, the median OS was 61 months, the median PFS was 21 months, and 3-year OS and PFS was 65.3% and 33.1%, respectively. It indicated that OS was significantly prolonged in auto-HSCT group (P=0.004). PFS was also prolonged but without significant difference (P=0.065). ⑤ Analysis of prognostic factors in auto-HSCT group showed that decreased PLT (P=0.038) and increased serum-adjusted calcium (P=0.017) were independent risk factors for OS, decreased PLT (P=0.005), female (P=0.018) and disease status of PR or worse before transplantation (P=0.012) were independent risk factors for PFS. 【Conclusion】 Auto-HSCT can improve the remission rate, prolong OS in MM patients, and possibly prolong PFS. Increased serum-corrected calcium and decreased PLT are independent prognostic factors for OS in patients treated with auto-HSCT. Decreased PLT, female, and disease status of PR or worse before transplantation are independent prognostic factors for PFS.

Research on Multi-Level Scheduling of Mine Water Reuse Based on Improved Whale Optimization Algorithm.

Aiming at the problem of the inefficiency of coal mine water reuse, a multi-level scheduling method for mine water reuse based on an improved whale optimization algorithm is proposed. Firstly, the optimization objects of mine water reuse time and reuse cost are used to establish the optimal scheduling model of mine water. Secondly, in order to overcome the defect that the whale optimization algorithm (WOA) is prone to local convergence, the opposition-based learning strategy is introduced to speed up the convergence speed, the Levy flight strategy is used to enhance the ability of the algorithm to jump out of the local optimization, the nonlinear convergence factor is used to balance the global and local search ability, and the adaptive inertia weight is used to improve the optimization accuracy of the algorithm. Finally, the improved whale optimization algorithm (IWOA) is applied to the mine water optimization scheduling model with multiple objects and constraints. The results show that the reuse efficiency of the multi-level scheduling method of mine water reuse is increased by 30.2% and 31.9%, respectively, in the heating and nonheating seasons, which can significantly improve the reuse efficiency of mine water and realize the efficient utilization of mine water reuse deployment. At the same time, experiments show that the improved whale optimization algorithm has higher convergence accuracy and speed, which proves the feasibility and superiority of its improvement strategies.

Optimal Reuse Design Scheduling of Mine Water Based on Improved Whale Algorithm.

The optimal scheduling of mine water is a multi-objective, multi-constraint, nonlinear, multi-stage combination of optimization problems, in view of the traditional solution methods with the increase in decision-making variable dimensions facing a large amount of computation, "dimensional disaster" and other problems, the introduction of a new intelligent simulation algorithm-the Whale Optimization Algorithm to solve the optimal scheduling problem of mine water. Aiming at the problem that the Whale Optimization Algorithm itself is prone to local optimization and slow convergence, it has been improved by improving its own parameters and introducing the inertia weight of the particle swarm and has achieved more obvious results. According to the actual situation of Nalinhe No. 2 Mine, the mathematical model of multi-target optimization of mine water is established based on the function of reuse time and reuse cost of mine water as the target function, and the balance of supply and demand of mine water, the water quality requirements of water use points at all levels, the water quantity requirements of reservoirs and the priority of water supply as the constraints. The improved Whale Optimization Algorithm was used to search optimal solution, and the results showed that the adaptability value of the improved Whale Optimization Algorithm was significantly improved compared with before, of which 8.65% and 7.69% were increased in the heating season and non-heating season, and the rate of cost reduction was 46.80% and 36.92%, and the iteration efficiency was also significantly improved, which improved the decision-making efficiency of optimal scheduling and became more suitable for the actual scheduling needs of Nalinhe No. 2 mine.

Economic Optimal Allocation of Mine Water Based on Two-Stage Adaptive Genetic Algorithm and Particle Swarm Optimization.

The waste mine water is produced in the process of coal mining, which is the main cause of mine flood and environmental pollution. Therefore, economic treatment and efficient reuse of mine water is one of the main research directions in the mining area at present. It is an urgent problem to use an intelligent algorithm to realize optimal allocation and economic reuse of mine water. In order to solve this problem, this paper first designs a reuse mathematical model according to the mine water treatment system, which includes the mine water reuse rate, the reuse cost at different stages and the operational efficiency of the whole mine water treatment system. Then, a hybrid optimization algorithm, GAPSO, was proposed by combining genetic algorithm (GA) and particle swarm optimization (PSO), and adaptive improvement (TSA-GAPSO) was carried out for the two optimization stages. Finally, simulation analysis and actual data detection of the mine water reuse model are carried out by using four algorithms, respectively. The results show that the hybrid improved algorithm has better convergence speed and precision in solving the mine water scheduling problem. TSA-GAPSO algorithm has the best effect and is superior to the other three algorithms. The cost of mine water reuse is reduced by 9.09%, and the treatment efficiency of the whole system is improved by 5.81%, which proves the practicability and superiority of the algorithm.

Incidence of Voice Disorders among Private School Teachers in Taiwan: A Nationwide Longitudinal Study.

Background: Teachers are more likely to use a loud voice at work than the general working population, but few longitudinal studies have been conducted on their risk of voice disorders. The occurrence of voice disorders in private school teachers was assessed by using the Longitudinal Health Insurance Database 2000 of Taiwan, which contains information on a random sample of 1 million beneficiaries of National Health Insurance. Methods: This study included private school teachers who were under 35 years old and newly employed between 2000 and 2010, and used workers with other occupations as the comparison cohort. Patients with voice disorders were identified using diagnostic codes on insurance claims. Cox proportional hazards regressions were applied to obtain relative risk estimates. Results: After adjusting for age, sex, income, and comorbidities of sinusitis and laryngitis, private school teachers had a higher risk of developing voice disorders (hazard ratio [HR] = 1.58; 95% confidence intervals: 1.43-1.75). In addition, the finding that elementary and high-school teachers had a higher risk than college teachers (HR: 2.56 vs. 1.44) and the pattern of increases in cumulative incidence over time supported a dose-response relationship between teaching and voice disorders. Conclusions: Private school teachers had higher risks of voice disorders. The results support the causality between occupation and voice disorders in teachers.

Is subfibular ossicle excision necessary in the modified Brostr?m procedure for chronic lateral ankle instability? / 中华创伤骨科杂志

Objective:To investigate the effect of subfibular ossicle excision on the clinical efficacy of Brostr?m procedure for chronic lateral ankle instability (CLAI).Methods:From March 2014 to December 2018, 76 patients were treated by the modified Brostr?m procedure using the suture anchor technique for CLAI at Department of Foot & Ankle Surgery, Wuhan Fourth Hospital. Of them, 33 had subfibular ossicles (SFO group) and 43 did not (NSFO group). In the SFO group, there were 19 males and 14 females, aged (28.4±8.6) years; in the NSFO group, there were 21 males and 22 females, aged (27.8±7.4) years. Subfibular ossicles were excised in the SFO group. The 2 groups were compared in terms of American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot scores and visual analogue scale (VAS) pain scores at preoperation and the final follow-up.Results:The 2 groups were comparable due to insignificant differences between them in their preoperative general data ( P>0.05). All the patients were followed up for 24 to 72 months (average, 28 months). The AOFAS ankle-hindfoot scores improved significantly from 54.5±3.4 to 95.7±2.1 in the SFO group and significantly from 56.2±2.7 to 95.2±2.4 in the NSFO group at the final follow-up; the VAS scores reduced significantly from 5.7±1.8 to 1.6±1.4 in the SFO group and significantly from 5.7±1.6 to 1.7±1.2 in the NSFO group at the final follow-up (all P<0.05). No significant differences were found between the 2 groups in terms of AOFAS or VAS scores at the final follow-up ( P>0.05). Conclusion:Since the modified Brostr?m procedure plus subfibular ossicle excision may result in similar good clinical efficacy as merely the modified Brostr?m procedure may for the CLAI patients without subfibular ossicle, subfibular ossicle excision should be suggested for the CLAI patients with subfibular ossicle.

Research hot spots of ophthalmology-related coronavirus disease 2019 / 中华眼底病杂志

Objective:To study the research hot spots of ophthalmology-related coronavirus disease 2019 (COVID-19).Methods:PubMed database as the data source, the literatures of ophthalmology-related COVID-19 published on January 1, 2020 to February 22, 2022 were collected, limited to Medline included, the language type was limited to English and Chinese, and 1 592 literatures were included. By reading the titles and abstracts, the literatures of meeting notice, editor's note, etc. and the literature that was not quite relevant with ophthalmology-related COVID-19 were removed, and finally 1 547 literatures were included. Bibliographic Items Co-occurrence Matrix Builder (BICOMB 2.02 software) was used to collect the frequency of major Mesh terms/subheadings and the frequency of major Mesh terms after removing the subheadings, and the number of included articles published in the top 10 journals by the number of ophthalmology-related COVID-19 articles was recorded. VosViewer 1.6.18 software was used for cluster analysis of collaborator network and major Mesh terms, and the publication status and country or region distribution of active authors of ophthalmology-related COVID-19 were recorded.Results:Of the 1 547 literatures, the active authors were mainly from India, Italy, Singapore, Spain, and Hong Kong, China, and so on; the top 10 journals published 617 articles in total (39.88%, 617/1 547). The high frequency major Mesh terms/subheadings included COVID-19, viral pneumonia, coronavirus infection, eye diseases/epidemiology, complications, prevention & control, diagnosis, virology, and Severe acute respiratory syndrome coronavirus 2, betacoronavirus/isolation & purification, ophthalmology/education, organization & administration, telemedicine, delivery of health care/organization & administration, and mucormycosis/diagnosis, etc. After taking out the subheadings, the high frequency of major Mesh terms also included conjunctivitis, orbital disease, retinal diseases, neuromyelitis optica, retinal vein occlusion, myopia and other eye diseases, eye diseases-related systemic diseases, such as multiple sclerosis and Miller Fisher syndrome, therapy and prevention-related drugs, such as hydroxyl chloroquine, angiogenesis inhibitors, and vaccination.Conclusions:Ophthalmology-related COVID-19 researches have received extensive attention worldwide, COVID-19 is associated with multiple ocular diseases of anterior and posterior segments. COVID-19-related mucormycosis, hydroxychloroquine and possible retinal toxicity, and possible ocular adverse effects associated with vaccination are also noteworthy.

Genotypes and phenotypes analysis of a novel complex heterozygous mutation of CEP290 related isolated cone-rod dystrophy / 中华眼底病杂志

Objective:The clinical phenotypes and pathogenicity of isolated cone-rod dystrophy (CORD) caused by two novel complex heterozygous variants of the CEP290 gene were analyzed using high-resolution multi-mode imaging and gene detection techniques. Methods:A retrospective study. Two patients and two family members from a CORD family who were diagnosed by genetic testing at Henan Provincial People's Hospital in December 2021 were included in the study. All subjects underwent best-corrected visual acuity (BCVA), color fundus photography, autofluorescence, swept-source optical coherence tomography (SS-OCT), adaptive optics fundus imaging, static threshold field, full field and multiple electroretinogram (ERG) examination, as well as other systemic examinations throughout the body. The peripheral venous blood of the subjects was collected, and the whole genome DNA was extracted. DNA sequencing was performed using the Inherited Retinal Disease Kit PS400, and Sanger verification and pedigree co-segregation analysis were performed on the suspected pathogenic mutation sites. Validation was performed by Sanger sequencing, pathogenicity analysis was performed in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Conservation of variation among different species was analyzed by GERP++, Clustal Omega and Weblogo.Results:Both patients were male, and their ages were 21 and 29 years old, respectively. The right eye and left eye about BCVAs were 0.7, 0.4 and 0.3, 0.4, respectively. The full field and multiple electroretinogram ERG showed a decreased function of cones and rods, especially cones. SS-OCT showed thinning of the outer nuclear layer of macular, and attenuation of ellipsoid zone reflectivity in B-scan. Adaptive optics fundus imaging examination showed that the arrangement of cone cells in the fovea of the fovea was disordered and the density decreased, and the retinal pigment epithelial cells were seen through the atrophy of cone cells in some areas at 10°visual angle. No obvious abnormality was found in other systemic examinations of the whole body. Genetic testing showed that 2 novel compound heterozygous variants c.950T >A (p.Leu317*) (M1) and c.4144_4149del (p.Tyr1382_Glu1383del) (M2) in CEP290 were found in two patients. The first variant was predicted to be harmful in MutationTaster and CADD. GERP++ showed highly conserved among different species. The pathogenicity of the variant was suspected to be likely pathogenic according to ACMG guidelines. The pathogenicity of the second variant was uncertain significance. The parents of the proband had no similar ocular abnormalities. Verified by Sanger sequencing, it was consistent with co-separation in the family. Conclusions:Patients with pure CORD caused by CEP290 gene mutation still retain better vision when the cone structure is abnormal, the density is decreased, and the function of cone and rod cells is decreased. CEP290 M1 and M2 are newly discovered nonsense mutations and newly discovered deletion mutations, which expanded the causative gene spectrum of pure CORD.

Skin fibroblasts derived from Leber's hereditary optic neuropathy patients present mitochondrial dysfunction / 中华眼底病杂志

Objective:To investigate the feasibility of immoribund skin fibroblast cell line derived from Leber's hereditary optic neuropathy (LHON) patients as a cell model.Methods:A basic research. Two LHON patients and 2 healthy volunteers were recruited from Department of Ophthalmology of Genetic Clinic of Henan Provincial Eye Hospital. The skin tissue of participants was obtained, and the 4 immortalized skin fibroblasts were constructed by SV40 virus infection, including 2 LHON patient cells (LHON-1 and LHON-2 cells) and 2 healthy volunteers cells (NC-1 and NC-2 cells). Mitochondrial morphology in cells was observed by electron microscope. The levels of reactive oxygen species (ROS), nicotinamide adenine dinucleotide-oxidation state (NAD +), nicotinamide adenine dinucleotide-reduction state (NADH) and adenosine triphosphate (ATP) in fibroblasts were detected. Cellular oxygen consumption was measured by seahorse mitochondrial pressure assay. Cell viability was detected using cell counting kit-8 (CCK8). One-way ANOVA was performed to compare the levels of ROS, NAD +, NADH and ATP in LHON and NC cells, as well as basal oxygen consumption, maximal oxygen consumption, ATP-coupled oxygen consumption, and cell viability. Results:Compared with NC-1 and NC-2, the number of mitochondrial crest in LHON fibroblasts was significantly reduced, indicating abnormal mitochondrial morphology. Biochemical analysis showed that ROS levels in LHON cells increased, but NAD +/NADH and ATP levels decreased, and the oxygen consumption was significantly inhibited, indicating the presence of mitochondrial damage and respiratory dysfunction. The results of CCK-8 detection showed that the survival ability of LHON-1 and LHON-2 cells was worse under stress conditions. Conclusion:Immortalized skin fibroblast cell lines from LHON patients presented mitochondrial dysfunction.