[Efficacy evaluation of short-term personalized vestibular rehabilitation in the treatment of acute unilateral vestibulopathy].

Objective: To explore the efficacy and effective node of short-term personalized vestibular rehabilitation (ST-PVR) in treating acute unilateral vestibulopathy (AUVP). Methods: A randomized controlled trial was carried out. The AUVP patients who were admitted to the First Affiliated Hospital of Zhengzhou University from July 2022 to March 2023 were selected and randomized to the vestibular rehabilitation (VR) group and control group via computer-generated randomization. Standard care was the medical treatment with betahistine and prednisolone. Meanwhile, the VR group received ST-PVR. All the patients completed the baseline assessment and underwent follow-up assessments at 1 month and 3 months after the treatment. The assessments were consisted of spontaneous nystagmus (NYS), Romberg test (ROM), head thrust test (HTT), visual analogue scale (VAS) for vertigo, dizziness handicap inventory scale (DHI), activities-specific balance confidence scale (ABC), caloric test using video-electronystagmograph (VNG), and video-head impulse test (vHIT). The measurement data that did not conform to normal distribution were represented by M (Q1, Q3). Generalized estimating equation (GEE) was used to analyze the influence of the ST-PVR on the values of these clinical indicators and the VR grading score. The values of clinical indicators and the VR grading score were compared between the two groups at each follow-up point. Results: Seventy-one AUVP patients were included, with 35 cases in the VR group [14 males and 21 females, aged 51 (33, 55) years] and 36 cases in control group [17 males and 19 females, aged 46 (34, 59) years]. There were statistically significant differences in the impact of ST-PVR on the values of clinical indicators between the two groups (ABC: ß=10.89, P<0.001; VAS: ß=-1.64, P<0.001; DHI: ß=-8.70, P<0.001; NYS: ß=26.73, P<0.001; vHIT: ß=1.41, P=0.047; the VR grading score: ß=1.03, P=0.045). The assessments of the VR group in the positive rate of NYS [14.3% (5/35) vs 50.0% (18/36), P<0.001], ROM [48.6% (17/35) vs 55.6% (20/36), P<0.001], directional preponderance (DP) [34.3% (12/35) vs 75.0% (27/36), P<0.001] and DHI [26 (22, 32) vs 36 (30, 60), P=0.001] were significantly lower than that of the control group at 1 month after the treatment. The results showed a statistically significant difference in ABC [88 (80, 90) vs 76 (61, 88), P<0.001], VAS [2 (1, 3) vs 3 (2, 5), P<0.001] at 3-months after the treatment. The VR grading score of the VR group was improved significantly than those of the control group at 1 month after treatment [21 (17, 21) vs 16 (13, 20), P=0.001]. Conclusion: ST-PVR could improve the results of clinical indicators and VR grading score of the AUVP patients effectively after 1 month of the systematical treatment, and alleviate the symptoms and signs of dizziness in the acute phase as early as possible.

Sub-region based radiomics analysis for prediction of isocitrate dehydrogenase and telomerase reverse transcriptase promoter mutations in diffuse gliomas.

AIM: To enhance the prediction of mutation status of isocitrate dehydrogenase (IDH) and telomerase reverse transcriptase (TERT) promoter, which are crucial for glioma prognostication and therapeutic decision-making, via sub-regional radiomics analysis based on multiparametric magnetic resonance imaging (MRI). MATERIALS AND METHODS: A retrospective study was conducted on 401 participants with adult-type diffuse gliomas. Employing the K-means algorithm, tumours were clustered into two to four subregions. Sub-regional radiomics features were extracted and selected using the Mann-Whitney U-test, Pearson correlation analysis, and least absolute shrinkage and selection operator, forming the basis for predictive models. The performance of model combinations of different sub-regional features and classifiers (including logistic regression, support vector machines, K-nearest neighbour, light gradient boosting machine, and multilayer perceptron) was evaluated using an external test set. RESULTS: The models demonstrated high predictive performance, with area under the receiver operating characteristic curve (AUC) values ranging from 0.918 to 0.994 in the training set for IDH mutation prediction and from 0.758 to 0.939 for TERT promoter mutation prediction. In the external test sets, the two-cluster radiomics features and the logistic regression model yielded the highest prediction for IDH mutation, resulting in an AUC of 0.905. Additionally, the most effective predictive performance with an AUC of 0.803 was achieved using the four-cluster radiomics features and the support vector machine model, specifically for TERT promoter mutation prediction. CONCLUSION: The present study underscores the potential of sub-regional radiomics analysis in predicting IDH and TERT promoter mutations in glioma patients. These models have the capacity to refine preoperative glioma diagnosis and contribute to personalised therapeutic interventions for patients.

Stable color-tunable Ca3Y(GaO)3(BO3)4:Bi3+/Tb3+/Eu3+ phosphors for application in n-UV-pumped wLEDs.

For further development of light sources, white light-emitting diodes (wLEDs) have attracted widespread attention as promising next-generation light sources fabricated via the combination of phosphors and LED chips. However, latent defects, such as chemical/thermal instability, low color rendering index (CRI) and high correlated color temperature (CCT), of current mainstream wLEDs seriously hinder their further large-scale implementation. Herein, in order to overcome these limitations, single-phase color-tunable gaudefroyite (Ca3Y(GaO)3(BO3)4 (CYGB)) tridoped with Bi3+/Tb3+/Eu3+ ions was synthesized for the first time and detailed characterisation was performed via high-temperature solid-state reaction and structural/spectral analyses, respectively. Radius difference percentage calculations and Rietveld refinements indicate that dopants occupy both Y3+ and Ca2+ sites but preferably the Y3+ site over the Ca2+ site due to the same valence state. Through subtly regulating the (co)doping contents and skillfully utilizing the energy transfer (ET) strategy from the allowed transition of blue light-emitting Bi to the forbidden transition of green/red light-emitting Tb/Eu, the color hue (including white light) of highly efficient PL can be easily tuned according to the need. Meanwhile, composition/content-optimized white light-emitting CYGB:2%Bi/10%Tb/12%Eu also shows splendid chemical/thermal stability. Finally, as a proof-of-concept experiment, the CYGB:2%Bi/10%Tb/12%Eu phosphor-converted wLED (pc-wLED) was fabricated and encapsulated via the up-to-date remote 'capping' method, which imparted attractive performances. Altogether, the stable CYGB:Bi/Tb/Eu phosphor is a promising candidate for application in lighting/display fields.

Three-dimensional analysis of mandibular morphology asymmetry and temporomandibular joint position in patients with unilateral Brodie bite.

OBJECTIVE: Previous studies have shown unilateral posterior crossbite is associated with mandibular asymmetry in morphology and position. However, it remains unclear whether unilateral Brodie bite plays a similar role in mandibular development. Therefore, this study aims to investigate the morphological and positional symmetry of mandibles in patients with unilateral Brodie bite by three-dimensional anaylsis. METHODS: Fourteen patients with unilateral Brodie bite (mean age 18.43 ± 4.24 years) and fourteen sex- and age-matched patients with normal occlusion (mean age 18.07 ± 5.48 years) underwent cone-beam computed tomography (CBCT) scans. 3D surface mesh models of their mandibles were established using Mimics Research 19.0. The surface matching percentage was compared between the original and mirrored mandible by Geomagic Control X software. Furthermore, the dimension and position of the temporomandibular joint (TMJ) were determined for both groups using InVivoDental 5.0. RESULTS: For surface-to-surface deviation analysis, the percentage of mismatch in patients with unilateral Brodie bite was significantly higher than the control group at ±0.50 mm, ±0.75 mm, and ±1.00 mm tolerance (P < .001). In patients with unilateral Brodie syndrome, the condyles on the scissors-bite side showed a significantly more anterior position (P = .03), greater medial inclination (P < .01), and larger posterior TMJ space (P = .01) than the non-scissors-bite side. CONCLUSION: Patients with unilateral Brodie bite exhibit a more asymmetrical mandibular morphology, with a greater anterior condylar position and posterior joint space on the scissors-bite side, indicating that early diagnosis and treatment may be necessary for patients with unilateral Brodie bite.

DACH1 attenuated PA-induced renal tubular injury through TLR4/MyD88/NF-κB and TGF-ß/Smad signalling pathway.

BACKGROUND: Palmitic acid (PA), the major saturated fatty acid in the blood, often induces the initiation and progression of diabetic kidney disease (DKD). However, the underlying mechanism remains unclear. DACH1 is an important regulator of kidney functions. Herein, we investigated the roles of DACH1 in PA-induced kidney injury. METHODS: Clinical data from the NHANES database were subjected to analyse the association between serum PA (sPA), blood glucose and kidney function. Molecular docking of PA was performed with DACH1. Immunohistochemistry, cell viability, annexin V/7-AAD double staining, TUNEL assay, immunofluorescent staining, autophagic flux analysis, qRT-PCR and western blot were performed. RESULTS: Clinical data confirmed that sPA was increased significantly in the pathoglycemia individuals compared with controls and correlated negatively with renal function. Our findings suggested that PA could dock with DACH1. DACH1 enhances cell viability by inhibiting apoptosis and attenuating autophagy blockage induced by PA. Furthermore, the results demonstrated that DACH1 ameliorated inflammation and fibrosis through TLR4/MyD88/NF-κB and TGF-ß/Smad signalling pathway in PA-treated renal tubular epithelial cell line (HK-2). CONCLUSIONS: This study proved that sPA presents a risk factor for kidney injuries and DACH1 might serve as a protective target against renal function deterioration in diabetic patients.

[A case of metastatic breast cancer complicated by pulmonary tumor thrombotic microangiopathy].

Pulmonary tumor thrombotic microangiopathy is a malignancy-related complication with rapid progression and high mortality. To improve the understanding of the disease, early diagnosis and treatment are key to successful treatment. A 39-year-old patient with pulmonary hypertension transferred from another hospital was admitted to the First Affiliated Hospital of Guangzhou Medical University on September 26, 2021. The patient developed shortness of breath and progressive exacerbation over the past month. No pulmonary artery embolism was seen on computed tomography pulmonary angiography (CTPA) at the outside hospital where the breast cancer was diagnosed. Pulmonary tumor thrombotic microangiopathy was immediately considered on admission and oncological endocrine therapy was started. After treatment, the patient's dyspnoea improved, PET-CT showed significant tumor regression, and cardiac ultrasound showed a significant decrease in pulmonary artery pressure. The successful treatment experience of this case was summarized for reference.

Effects of nursing intervention based on a positive motivational model on cardiac function, self-management and quality of life in elderly patients with coronary heart disease.

OBJECTIVE: The aim of this study was to analyze the effects of nursing intervention based on a positive motivational model on cardiac function, self-management, and life quality in elderly patients with coronary heart disease (CHD). PATIENTS AND METHODS: A total of 112 elderly CHD patients were picked as the subjects of this research from August 2021 to August 2022. All patients were randomized to the observation group and regular group by a two-color sampling method, with 56 cases in each group. Subjects in the regular group and observation group received traditional interventions and additional positive motivational model nursing interventions, respectively. The cardiac function [left ventricular ejection fraction (LVEF), left ventricular end-systolic diameter (LVESD), left ventricular end-diastolic diameter (LVEDD)], sports endurance, self-management ability, psychological status [depression self-assessment scale (SDS), anxiety self-assessment scale (SAS)], and life quality before and after the intervention were compared between two groups. The readiness for discharge scores and satisfaction with nursing care were compared between the two groups after the intervention. RESULTS: After the intervention, the LVEF levels of the patients in both groups were elevated, and the LVESD and LVEDD levels were sharply decreased (p < 0.05). The improvement in cardiac function indexes was more evident in the observation group than in the regular group (p < 0.001). The readiness for discharge score of patients was markedly higher in the observation group than in the regular group (p < 0.01). After the intervention, the self-management score and sports endurance score of patients in both groups were evidently elevated (p < 0.05), which were much higher in the observation group than in the control (p < 0.001). The nursing satisfaction of patients in the observation group was 92.86%, much higher than 73.21% in the regular group (p < 0.05). The observation group had much lower SDS and SAS scores than the regular group after the intervention (p < 0.001). After the intervention, the observation group had a much higher life quality score than the regular group (p < 0.001). CONCLUSIONS: The nursing intervention model based on the positive motivation model could significantly improve the cardiac function, discharge readiness, sports endurance, and self-management behavior of elderly patients with CHD, thereby improving their quality of life and achieving higher patient satisfaction.

[Choice of immediate breast reconstructive methods after modified radical mastectomy].

OBJECTIVE: To investigate the choice of immediate breast reconstructive methods and asso-ciated outcomes after modified radical mastectomy. METHODS: Retrospective analysis of patients undergoing immediate breast reconstruction after modified radical mastectomy in Peking University Third Hospital from January 2009 to May 2019. The reconstructive methods were summarized, and the clinical outcomes and the safety of immediate breast reconstruction were evaluated. RESULTS: One hundred and twenty-three patients were enrolled in this study. Different reconstructive methods were applied according to the clinical stage, the amount of skin removal, the size of contralateral breasts, the physical condition and the preference of the patients. Seventy-nine cases were performed with tissue expander/implant two-stage reconstruction, twenty-three cases received direct breast implant insertion, seven cases were applied for latissimus dorsi (LD) myocutaneous flap transfer combined with implant insertion, five cases were provided transverse rectus abdominis myocutaneous (TRAM) flap transfer, six cases underwent tissue expander/implant combined with endoscopic LD muscle flap transfer, and three cases chose tissue expander/deep inferior epigastric artery perforator (DIEP) flap transfer. The average follow-up time was (12.3±9.0) months (3.5-41.0 months). One patient with direct implant insertion had partial blood supply distur-bance of the mastectomy flap. One case had necrosis of distal end of TRAM zone Ⅳ. One patient with expander/DIEP reconstruction had partial fat liquefaction. And two cases had expander leakage at the end of the expansion period. The tumor local recurrence occurred in one patient, and the implant was finally removed. The outcomes were evaluated by Harris method, and 90.2% patients were good or above in shape evaluation. Among the patients with implant based reconstruction, there was no obvious capsular contracture, and most of the implants had good or fair mobility. CONCLUSION: It is safe and feasible of immediate breast reconstruction after modified radical mastectomy for appropriate cases. The reconstructive methods can be individualized according to the individual's different conditions. The appropriate reconstructive methods could achieve satisfactory results.

[Effect of miR-96-5p targeting IRS1 on apoptosis of PC12 cells induced by aluminum maltol].

Objective: To investigate the effect and mechanism of miR-96-5p on apoptosis of PC12 cells induced by maltol aluminum. Methods: In January 2021, PC12 cells at logarithmic growth phase were divided into blank control group and low, medium and high dose group. Cells in each group were treated with 0, 100, 200 and 400 µmol/L maltol aluminum for 24 hours respectively. Cells were collected and cell apoptosis rates were detected by flow cytometry, miR-96-5p and insulin receptor substrate 1 (IRS1) mRNA expressions were detected by qRT-PCR, and the protein expression levels of cysteine protease 3 (Caspase3) 、activated cysteine protease 3 (Cleaved-caspase3) 、IRS1、phosphorylated protein kinase B (p-AKT) and phosphorylated glucose synthesis kinase 3ß (p-GSK3ß) were detected by western blotting. The target binding relationship between miR-96-5p and IRS1 was detected by double luciferase reporter gene experiment. The miR-96-5p inhibitor cells and negative control cells were constructed after transfecting PC12 cells with miR-96-5p inhibitor for 24 hours. The cells were divided into blank control group, negative control group, aluminum exposure group, aluminum exposure+negative control group, aluminum exposure+miR-96-5p inhibition group, and miR-96-5p inhibition group. After transfecting PC12 cells with miR-96-5p inhibition and IRS1 siRNA for 24 h, the cells were divided into aluminum exposure+miR-96-5p inhibition+negative control group and aluminum exposure+miR-96-5p inhibition+IRS1 inhibition group. The control group was cultured in complete culture medium, and cells in the aluminum exposure group were treated with 200 µmol/L maltol aluminum for 24 hours. Cells in each group were collected and the apoptosis rate, miR-96-5p and IRS1 mRNA expression levels, as well as protein expression levels of Caspase3, Cleaved-caspase3, IRS1, p-AKT, and p-GSK3ß were measured. Results: After 24 hours of exposure, compared with blank control group and low-dose group, the apoptosis rates, relative expressions of Caspase3 and Cleaved-caspase3 proteins, and relative expressions of miR-96-5p in the medium and high-dose groups of PC12 cells were significantly increased, while the relative expression levels of IRS1 mRNA, IRS1, p-AKT and p-GSK3ß proteins were significantly decreased (P<0.05). Targetscan prediction and double luciferase report experiment both proved that IRS1 was a direct target gene of miR-96-5p. In the transfection experiment, compared with the aluminum exposure group, the apoptosis rate, the relative expressions of Caspase3 and Cleaved-caspase3 proteins, the relative expression of miR-96-5p in the aluminum exposure+miR-96-5p inhibition group were significantly decreased, while the relative expression levels of IRS1 mRNA and IRS1, p-AKT and p-GSK3ß proteins were significantly increased (P<0.05). In the IRS1 low expression experiment, compared with the aluminum exposure+miR-96-5p inhibition+negative control group, the apoptosis rate, the relative expressions of Caspase3 and Cleaved-caspase3 proteins in the aluminum exposure+miR-96-5p inhibition+IRS1 inhibition group were significantly increased, while the relative expression levels of IRS1 mRNA and IRS1, p-AKT and p-GSK3ß proteins were significantly decreased (P<0.05) . Conclusion: The increased expression of miR-96-5p and the targeted inhibition of IRS1 may be one of the mechanisms of apoptosis of PC12 cells induced by maltol aluminum exposure.

[Honokiol reduces oxidative stress by activating the SIRT3-MnSOD2 pathway to alleviate hypertriglyceridemia-induced acute pancreatitis in rats].

OBJECTIVE: To determine how honokiol affects the sirtuin-3 (SIRT3)-MnSOD2 pathway and oxidative stress in rats with hypertriglyceridemia-induced acute pancreatitis (HTGP). METHODS: Thirty 4-week-old male SD rats were randomly divided into two groups for normal feeding and high-fat feeding for 4 weeks, after which the rats with normal feeding were randomized into control group and acute pancreatitis (AP) group (n=6), and those with high-fat feeding were divided into hypertriglyceridemia group, HTGP group, and honokiol treatment group (n=6). In AP, HTGP, and honokiol groups, AP models were established by intraperitoneal injection of cerulean; in honokiol group, the rats received an intraperitoneal injection of 5 mg/kg honokiol 15 min after cerulean injection. Serum TG, IL-6, and TNF-α levels were measured 24 h after the treatments, and pathological changes in the pancreas were observed with HE staining; The levels of reactive oxygen species (ROS), malondialdehyde (MDA), and glutathione peroxidase (GSH) were measured, and SIRT3 and manganese superoxide dismutase (MnSOD2) expressions were detected using Western blotting and immunohistochemistry. Transmission electron microscopy was used to examine the ultrastructure of pancreatic acinar cells and mitochondria. RESULTS: Compared with the those with normal feeding, the rats with high-fat feeding had significantly elevated serum TG level (P < 0.05). The rat models of AP showed significantly increased serum levels of IL-6, TNF-α, and MDA and decreased GSH level and expressions of SIRT3 and MnSOD2, with obvious edema and inflammatory cell infiltration and enhanced ROS fluorescence intensity in the pancreas and ultrastructural damages of the acinar cells and mitochondria. In rats with HTGP, honokiol treatment significantly decreased serum levels of IL-6, TNF-α, and MDA, increased GSH level and SIRT3 and MnSOD2 expressions, reduced ROS production, and alleviated ultrastructural damage of the acinar cells and mitochondria in the pancreas. CONCLUSION: Honokiol reduce oxidative stress and alleviates pancreatic injuries in HTGP rats possibly by activating the SIRT3-MnSOD2 pathway.

Release of Interface Confined Water Significantly Improves Dentin Bonding.

Water residue and replacement difficulty cause insufficient adhesive infiltration in demineralized dentin matrix (DDM), which produces a defective hybrid layer and thus a bonding durability problem, severely plaguing adhesive dentistry for decades. In this study, we propose that the unique properties of a highly hydrated interface of the porous DDM can give rise to 1 new type of interface, confined liquid water, which accounts for most of the residue water and may be the main cause of insufficient infiltration. To prove our hypothesis, 3 metal ions with increasing binding affinity and complex stability (Na+, Ca2+, and Cu2+) were introduced respectively to coordinate negatively charged groups such as -PO43-, -COO- abundant in the DDM interface. Strong chelation of Ca2+ and Cu2+ rapidly released the confined water, significantly improving penetration of hydrophobic adhesive monomers, while Na+ had little effect. A significant decrease of defects in the hybrid layer and a much decreased modulus gap between the hybrid layer and the adhesive layer greatly optimized the microstructure and micromechanical properties of the tooth-resin bonding interface, thus improving the effectiveness and durability of dentin bonding substantially. This study paves the way for a solution to the core scientific issue of contemporary adhesive dentistry: water residue and replacement in dentin bonding, both theoretically and practically.

Could immune-related hepatitis rapidly progress to immune-related cirrhosis?

BACKGROUND: Immune-related hepatitis is one of the prevalent adverse events associated with immunotherapy, especially immune checkpoint inhibitors (ICIs). For patients without a history of liver disease, autoimmune disease, or alcohol consumption, it is not clear whether immune-related hepatitis could rapid progress to immune-related cirrhosis. CASE REPORT: We report the case of a 54-year-old female with stage IIIB primary pulmonary lymphoepithelioma-like carcinoma (PLELC) diagnosed with immune-related hepatitis. After 15 months, a liver biopsy demonstrated the rapid progression of liver cirrhosis although systematic corticosteroid administration. CONCLUSIONS: Long-term immune activation caused by ICIs may exacerbate the process of cirrhosis. Great attention should be paid to the rapid progression to liver cirrhosis of immune-related hepatitis in the clinic.

TRAF3IP2-IL-17 Axis Strengthens the Gingival Defense against Pathogens.

Recent genome-wide association studies have suggested novel risk loci associated with periodontitis, which is initiated by dysbiosis in subgingival plaque and leads to destruction of teeth-supporting structures. One such genetic locus was the tumor necrosis factor receptor-associated factor 3 interacting protein 2 (TRAF3IP2), a gene encoding the gate-keeping interleukin (IL)-17 receptor adaptor. In this study, we first determined that carriers of the lead exonic variant rs13190932 within the TRAF3IP2 locus combined with a high plaque microbial burden was associated with more severe periodontitis than noncarriers. We then demonstrated that TRAF3IP2 is essential in the IL-17-mediated CCL2 and IL-8 chemokine production in primary gingival epithelial cells. Further analysis suggested that rs13190932 may serve a surrogate variant for a genuine loss-of-function variant rs33980500 within the same gene. Traf3ip2 null mice (Traf3ip2-/-) were more susceptible than wild-type (WT) mice to the Porphyromonas gingivalis-induced periodontal alveolar bone loss. Such bone loss was associated with a delayed P. gingivalis clearance and an attenuated neutrophil recruitment in the gingiva of Traf3ip2-/- mice. Transcriptomic data showed decreased expression of antimicrobial genes, including Lcn2, S100a8, and Defb1, in the Traf3ip2-/- mouse gingiva in comparison to WT mice prior to or upon P. gingivalis oral challenge. Further 16S ribosomal RNA sequencing analysis identified a distinct microbial community in the Traf3ip2-/- mouse oral plaque, which was featured by a reduced microbial diversity and an overabundance of Streptococcus genus bacteria. More P. gingivalis was observed in the Traf3ip2-/- mouse gingiva than WT control animals in a ligature-promoted P. gingivalis invasion model. In agreement, neutrophil depletion resulted in more local gingival tissue invasion by P. gingivalis. Thus, we identified a homeostatic IL-17-TRAF3IP2-neutrophil axis underpinning host defense against a keystone periodontal pathogen.

[Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes].

Objective: To investigate the molecular etiology of Perrault syndrome by analyzing the clinical phenotype and pathogenic gene variants of 2 male patients with bilateral severe sensorineural deafness. Methods: Two male patients with Perrault syndrome characterized by severe sensonrineual deafness adimitted to the First Affiliated Hospital of Zhengzhou University between February 2021 and March 2022 were selected, and the clinical phenotype and pathogenic gene variants of them and their family members were summarized. The whole exome sequencing technology was used to screen the pathogenic variants of the probands, and the candidate variants were determined by combining with clinical phenotype. The probands and their family members were verified by the Sanger sequencing method. Results: The whole exome sequencing results showed that the proband of family 1 had a compound heterozygous variants of the LARS2 (NM_015340.4) gene c.1565C>A (p.Thr522Asn) and c.1079T>C (p.Ile360Thr). The reported pathogenic variant c.1565C>A came from the mother, and the novel variant c.1079T>C came from the father. The second proband harbored compound heterozygous variants of HARS2 gene (NM_012208.4) c.1273C>T (p.Arg425Trp) and c.1403G>C (p.Gly468Ala), with the former from the proband's mother, the latter from the father. The c.1273C>T was novel and c.1403G>C was the reported pathogenic variant. All above variants were respectively classified as pathogenic, uncertain significance, uncertain significance and likely pathogenic based on the ACMG guidelines. Conclusion: This study expands the mutational spectrum of LARS2 and HARS2 genes, which highlights that genetic testing plays an important role in the early diagnosis of syndromic deafness.

[Periodic dynamic observation and analysis of cellular and humoral immunity indexes of adults infected with Omicron BA.1].

Objective: To analyze the immunological characteristics and antibody changes of patients infected with the Omicron BA.1 and evaluate the possibility of secondary infection. Methods: A total of 104 patients infected with Omicron BA.1 in the Jinnan District of Tianjin from January 8 to February 2, 2022, were included in the study. The control group and case group were matched 1∶1 based on age, sex and vaccination status. Serum was collected from the case group and control group at 3, 6 and 9 months after infection. The serum levels of interleukin4 (IL-4), IL-5 and interferon-gamma (IFN-γ), as well as the positive rates of IgG, IgG1 and IgG2, were detected by ELISA. Results: The highest concentration of IFN-γ in the case group at 6 months after infection was 145.4 pg/ml, followed by a decrease in concentration. The concentrations of IL-4 and IL-5 began to decrease at 6 months after infection (all P<0.001). There was no significant difference in the IgG2 positive rate between the case group and the control group at 6 months after BA.1 infection. However, at 9 months, there was a significant decrease compared to the control group (P=0.003). The ratio of IFN-γ/IL4 at 3 months after infection in the case group was lower than that in the control group (P<0.001). There was no significant difference in the ratio between the case group and the control group at 9 months after infection. Conclusion: The cellular immune function has been impaired at 3 months after infection with BA.1, and the specific cellular immune and humoral immune functions decrease significantly after 6 months, and the risk of secondary infection increases.

[A case of autologous corneal stromal lenticule transplantation and vision function training in the correction of hyperopia].

Hypermetropic anisometropia is often accompanied by visual fatigue, and the higher hyperopia is prone to form amblyopia. To avoid Wear glasses fatigue, the higher hyperopia is often under corrected and regulative spasm. Pseudomyopia may occur in the early stage after refractive surgery. In this case, autologous corneal stromal lenticule transplantation was used to correct hyperopia. After standard visual cognitive training, the Uncorrected Distance Visual Acuity was rapidly improved, and the binocular vision was normal.

[Effects of composite laser technique combined with multipoint microinjection of triamcinolone acetonide in the treatment of hypertrophic scars in burn children].

Objective: To explore the effects of pulsed dye laser (PDL) and ultra-pulsed fractional carbon dioxide laser (UFCL) combined with multipoint microinjection of triamcinolone acetonide in the treatment of red hypertrophic scar at early stage in burn children. Methods: A retrospective cohort before-after control study in the same patients was conducted. From February 2019 to December 2020, a total of 67 burn children who met the inclusion criteria (32 males and 35 females, aged 1 to 12 years) with red hyperplastic scar at early stage, were treated in Hunan Provincial People's Hospital (1st Affiliated Hospital of Hunan Normal University). All the children were treated with composite laser technique (PDL and UFCL) combined with triamcinolone acetonide (hereinafter referred to as combined treatment). After 2 months, they received the second combined treatment. Before the first combined treatment and 6 months after the last combined treatment, the scar of children was evaluated with the patient and observer scar assessment scale (POSAS) by physicians and family members. Six months after the last combined treatment, the satisfaction of the patients' family members with the efficacy was recorded and the overall satisfaction rate was calculated. Adverse reactions were recorded throughout the treatment process. Data were statistically analyzed with paired sample t test. Results: Six months after the last combined treatment, the POSAS scores of children on the thickness, blood vessels distribution, color, surface roughness, texture, scope, and overall evaluation of scar evaluated by the physicians, and the POSAS scores of children on the color, degree of pain, degree of itching, hardness, thickness, shape and size, and overall evaluation of scar evaluated by the family members were significantly lower than those before the first combined treatment (with t values of 17.32, 16.73, 15.00, 14.91, 19.62, 28.74, 29.83, 17.43, 20.52, 29.01, 28.82, 24.91, 20.30, and 42.13, respectively, P<0.01). Six months after the last combined treatment, 62 (93%), 3 (4%), and 2 (3%) children's family members were very satisfied, satisfied, and relatively satisfied with the treatment effect, respectively, and the overall satisfaction rate was 97% (65/67). Six months after the last combined treatment, no scar thickening or infection occurred in all the wounds of children. Conclusions: Composite laser technique combined with multipoint microinjection of triamcinolone acetonide in the treatment of red hypertrophic scar at early stage in burn children can improve the appearance and texture of scar, reduce scar pain and pruritus, with high satisfaction of children's family members to the treatment effect and less adverse reactions.